RS# (dbSNP)	#AlleleID	Name	GeneSymbol	LastEvaluated	PhenotypeIDS	PhenotypeList	Origin	Chromosome	Start	Flank
121434259	18324	NM_000268.3(NF2):c.169C>T (p.Arg57Ter)	NF2	Jul 18, 2016	Human Phenotype Ontology:HP:0002858,MedGen:C0025286,Orphanet:ORPHA2495;MedGen:CN517202	Meningioma;not provided	germline;somatic	22	29636805	TTTGATTTGGTGTGCCGGACTCTGGGGCTCCGAGAAACCTGGTTCTTTGGACTGCAGTACA
-1	481233	NM_172349.2(NSD1):c.3964C>T (p.His1322Tyr)	NSD1	Oct 04, 2017	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	unknown	5	177256956	AATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGG
587781363	150621	NM_000051.3(ATM):c.8473C>T (p.Gln2825Ter)	ATM	Jul 31, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108345797	GAGAAATATGAAGTCTTCATGGATGTTTGCCAAAATTTTCAACCAGTTTTCCGTTACTTCT
1057519501	362229	NM_003165.3(STXBP1):c.1006C>T (p.Gln336Ter)	STXBP1	Dec 16, 2015	MedGen:C2677326,OMIM:612164	Early infantile epileptic encephalopathy 4	unknown	9	127672093	GACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGC
797044929	205276	NM_000217.2(KCNA1):c.1202C>T (p.Ala401Val)	KCNA1	Jul 30, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	12	4912580	TGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTT
104893884	22568	NM_004465.1(FGF10):c.577C>T (p.Arg193Ter)	FGF10	Feb 01, 2005	MedGen:C0158667,OMIM:180920,Orphanet:ORPHA86815,SNOMED CT:22589009	Congenital absence of salivary gland	germline	5	44305045	AAAGGAGCTCCAAGGAGAGGACAGAAAACACGAAGGAAAAACACCTCTGCTCACTTTCTTC
-1	457078	NM_000238.3(KCNH2):c.2062C>T (p.Gln688Ter)	KCNH2	Jun 16, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007	Long QT syndrome	germline	7	150951004	CTGCGGGTGCGGGAGTTCATCCGCTTCCACCAGATCCCCAATCCCCTGCGCCAGCGCCTCG
-1	478499	NM_002878.3(RAD51D):c.178C>T (p.Gln60Ter)	RAD51D	Jun 07, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	35118586	CTGGTTGCCCTGAGGCGGGTGCTGCTGGCTCAGTTCTCGGCTTTCCCCGTGAATGGCGCTG
80356774	24102	NM_001876.3(CPT1A):c.298C>T (p.Gln100Ter)	CPT1A	Sep 10, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline	11	68807622	GTCTGTCTCCACAGCAACTGCATGTCCAGCCAGACGAAGAACGTGGTCAGCGGCGTGCTGT
1064794260	407780	NM_000264.4(PTCH1):c.2833C>T (p.Arg945Ter)	PTCH1	Nov 22, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	9	95459654	GCTGCCTCCCAGGCCAACATCCGGCCACACCGACCAGAATGGGTCCACGACAAAGCCGACT
398123888	100411	NM_004006.2(DMD):c.2419C>T (p.Gln807Ter)	DMD	May 06, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32491480	AATGCAGATAGCATCAAACAAGCCTCAGAACAACTGAACAGCCGGTGGATCGAATTCTGCC
104894538	22473	NM_002968.2(SALL1):c.967C>T (p.Gln323Ter)	SALL1	Feb 15, 2004	MedGen:C1862683	Townes-Brocks-branchiootorenal-like syndrome	germline	16	51141255	GTGAAACAGCTACCCCCAATCCAGCTACCTCAGAGCAGTTCTGGCAACACCATCATTCCAT
121434332	16725	NM_000528.3(MAN2B1):c.1915C>T (p.Gln639Ter)	MAN2B1	Oct 01, 1998	MedGen:C0024748,OMIM:248500,Orphanet:ORPHA61,SNOMED CT:124466001	Deficiency of alpha-mannosidase	germline	19	12652376	ATGAATCAGCAACTCCTGCTGCCTGTTCGCCAGACCTTCTTCTGGTAAGGGAAGATCACCA
132630262	26215	NM_000117.2(EMD):c.130C>T (p.Gln44Ter)	EMD	Jul 25, 2016	MedGen:CN069573,Orphanet:ORPHA98863;MedGen:CN517202	Emery-Dreifuss muscular dystrophy, X-linked;not provided	germline;unknown	X	154379737	TACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGT
137853310	26786	NM_001110556.1(FLNA):c.544C>T (p.Gln182Ter)	FLNA	Jan 11, 2010	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154367920	CTCCTGGGCTGGATCCAGAACAAGCTGCCGCAGCTGCCCATCACCAACTTCAGCCGGGACT
587777490	143196	NM_001199835.1(SNX10):c.46C>T (p.Arg16Ter)	SNX10	Jan 01, 2013	MedGen:C3554478,OMIM:615085	Osteopetrosis, autosomal recessive 8	germline	7	26360996	CCATTACAGGAATTTGTAAGTGTCTGGGTTCGAGATCCTAGGATTCAGAAGGAGGACTTCT
387907279	45772	NM_014967.4(FAN1):c.2245C>T (p.Arg749Ter)	FAN1	Sep 13, 2012	MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996	Interstitial nephritis, karyomegalic	germline	15	30925199	AGAACGGGACACCGCCTTTCACTGTATCAGCGAGCCGTGCGCCTGCGAGAGTCTCCGAGCT
-1	481772	NM_004415.3(DSP):c.4999C>T (p.Gln1667Ter)	DSP	Dec 28, 2017	MedGen:CN517202	not provided	germline	6	7581189	CTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAAC
67120076	26039	NM_000531.5(OTC):c.674C>T (p.Pro225Leu)	OTC	May 09, 2016	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;inherited;unknown	X	38408752	TTAAATTCTTCCTCCTTTAGGGTTATGAGCCGGATGCTAGTGTAACCAAGTTGGCAGAGCA
104893847	31075	NM_000406.2(GNRHR):c.959C>T (p.Pro320Leu)	GNRHR	Jul 01, 2004	Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004	Hypogonadotropic hypogonadism 7 with or without anosmia	germline	4	67740508	TCTTTGCCTTTTTAAACCCATGCTTTGATCCACTTATCTATGGATATTTTTCTCTGTGATT
863224999	213864	NM_004006.2(DMD):c.4729C>T (p.Arg1577Ter)	DMD	Apr 18, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Duchenne muscular dystrophy;not provided	germline	X	32380626	GAGAAATGCTTGAAATTGTCCCGTAAGATGCGAAAGGAAATGAATGTCTTGACAGAATGGC
267606718	15095	NM_001194998.1(CEP152):c.2959C>T (p.Arg987Ter)	CEP152	Jul 09, 2010	MedGen:C3553886,OMIM:614852	Primary autosomal recessive microcephaly 9	germline	15	48756289	CAAGATTACCGGCAATTTTTAGATGATCACCGAAATAAAATTAATGAGGTGCTTGCGGCAG
121913601	29227	NM_000530.7(MPZ):c.233C>T (p.Ser78Leu)	MPZ	Jun 19, 2017	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:C4016266;MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009;MedGen:CN517202	Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths;Charcot-Marie-Tooth disease, type I;not provided	germline	1	161307259	ACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGG
773404494	229815	NM_033056.3(PCDH15):c.3358C>T (p.Arg1120Ter)	PCDH15	Feb 24, 2015	MedGen:C1865885,OMIM:602083	Usher syndrome, type 1F	germline	10	53938830	GATTCCCTGGAAGTGGTCCTTGCCAATCTCCGAGTTCCTTCAAAAAGTAAGTTATACTACT
-1	433234	NM_000267.3(NF1):c.334C>T (p.Gln112Ter)	NF1	Sep 14, 2016	MedGen:CN169374	not specified	germline	17	31163231	ATGAGATTAGATGAAACGATGCTGGTCAAACAGTTGCTGCCAGAAATCTGCCATTTTCTTC
128626247	26295	NM_004006.2(DMD):c.4213C>T (p.Gln1405Ter)	DMD	Jan 01, 1994	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32411772	GCTTATATTGCAGACAAGGTGGACGCAGCTCAAATGCCTCAGGAAGCCCAGGCAAGTACAT
80358419	65760	NM_000059.3(BRCA2):c.1261C>T (p.Gln421Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline;somatic	13	32332739	ATACCCCTATTGCATATTTCTTCATGTGACCAAAATATTTCAGAAAAAGACCTATTAGACA
-1	434539	NM_001256442.1(PRRT2):c.959C>T (p.Ala320Val)	PRRT2	-	MedGen:C1868682,OMIM:128200;Gene:81865,MedGen:C1853995,OMIM:605751	Dystonia 10;Seizures, benign familial infantile, 2	paternal	16	29814412	GCCGGGTAGCCAAGCTCTTAAGCATCGTGGCGCTGGTGGGGGGAGTCCTCATCATCATCGC
200053119	201795	NM_005506.3(SCARB2):c.361C>T (p.Arg121Ter)	SCARB2	Mar 07, 2016	MedGen:C0751779,OMIM:254900,Orphanet:ORPHA163696;MedGen:CN517202	Epilepsy, progressive myoclonic 4, with or without renal failure;not provided	germline	4	76181016	GCTGTTAGCAACAAGGCCTATGTTTTTGAACGAGACCAATCTGTTGGAGACCCTAAAATTG
387906689	38848	NM_005213.3(CSTA):c.256C>T (p.Gln86Ter)	CSTA	Oct 07, 2011	MedGen:C1842797,OMIM:607936	Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like	germline	3	122341526	CAAAATGAGGACTTGGTACTTACTGGATACCAGGTTGACAAAAACAAGGATGACGAGCTGA
587784482	168985	NM_006009.3(TUBA1A):c.1148C>T (p.Ala383Val)	TUBA1A	Oct 31, 2014	Human Phenotype Ontology:HP:0002269,MedGen:C1837249;MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011	Abnormality of neuronal migration;Lissencephaly 3	de novo;germline	12	49185218	GAGCTGTGTGCATGCTGAGCAACACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCA
368085185	215173	NM_015909.3(NBAS):c.409C>T (p.Arg137Trp)	NBAS	Oct 18, 2015	MedGen:C3809651,OMIM:616483,Orphanet:ORPHA464724	Infantile liver failure syndrome 2	germline	2	15539327	GTTCCGAAAGACCCGAAACCCCAGTGGAGACGGGTAGCATGGAGTTACGATTGTACCCTAC
1060500759	397472	NM_020975.4(RET):c.2689C>T (p.Arg897Ter)	RET	Mar 13, 2017	MedGen:CN073359,Orphanet:ORPHA653,SNOMED CT:61808009	Multiple endocrine neoplasia, type 2	germline	10	43120162	AAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGA
772229371	264988	NM_013275.5(ANKRD11):c.1801C>T (p.Arg601Ter)	ANKRD11	Jul 07, 2017	MedGen:CN517202	not provided	germline	16	89284741	CCAGTGAGGAAGAGGCAGGAGCACAGGAAGCGAGCCTCCCTGTCGGAGAAGAAGAGCCCCT
121913323	22494	NM_000455.4(STK11):c.508C>T (p.Gln170Ter)	STK11	Jul 14, 2015	Gene:1243,MedGen:C1835047,OMIM:155600;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006	Cutaneous malignant melanoma 1;Neoplasm	somatic	19	1220416	CTGATTGACGGCCTGGAGTACCTGCATAGCCAGGGCATTGTGCACAAGGACATCAAGCCGG
794726790	187829	NM_001165963.1(SCN1A):c.1516C>T (p.Gln506Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166045189	GAAAGAAGAAATCGGAGGAAGAAAAGAAAACAGAAAGAGCAGTCTGGTGGGGAAGAGAAAG
267607084	16150	NM_025137.3(SPG11):c.118C>T (p.Gln40Ter)	SPG11	Nov 10, 2015	Gene:255,MedGen:C1865864,OMIM:602099;MedGen:C4225253,OMIM:616668,Orphanet:ORPHA466775;MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease, axonal type 2X;Spastic paraplegia 11, autosomal recessive	germline	15	44663530	TTGGTGCCAGTCCCCGCCGAGGCGATGGGGCAGCTCGGCTCCCGGGCGCAGCTGCGCACAC
926027867	424457	NM_171825.2(CAMK2A):c.635C>T (p.Pro212Leu)	CAMK2A	Jul 03, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Intellectual disability	de novo	5	150251808	TCCTGTACATCCTGCTGGTTGGGTACCCCCCGTTCTGGGATGAGGACCAGCACCGCCTGTA
11543022	26114	NM_001128834.2(PLP1):c.44C>T (p.Pro15Leu)	PLP1	Dec 01, 1989	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000	Pelizaeus-Merzbacher disease	germline	X	103785621	AGTGCTGTGCAAGATGTCTGGTAGGGGCCCCCTTTGCTTCCCTGGTGGCCACTGGATTGTG
786203570	222618	NM_000267.3(NF1):c.5458C>T (p.Gln1820Ter)	NF1	Jul 18, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31327751	TGGGAACTGTCACAGCCCGACTCTATCCCCCAACACACCAAGATTCGGCCAAAAGATGTCC
104893794	28089	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	RHO	May 15, 1994	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129531025	TGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACT
397517963	228349	NM_206933.2(USH2A):c.1000C>T (p.Arg334Trp)	USH2A	Apr 27, 2015	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216325448	GCAGGAGACACAGCTGATAATAGAGTGTCACGGTTGAATCCTGAAGCCCATCCTCTCTCTT
72549326	31347	NM_006894.5(FMO3):c.458C>T (p.Pro153Leu)	FMO3	Jun 14, 2016	Human Phenotype Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED CT:237959005	Trimethylaminuria	germline	1	171107811	TAATGGTTTGTTCCGGACATCATGTGTATCCCAACCTACCAAAAGAGTCCTTTCCAGGTAA
137853071	22506	NM_002241.4(KCNJ10):c.889C>T (p.Arg297Cys)	KCNJ10	Mar 21, 2016	MedGen:C2748572,OMIM:612780,Orphanet:ORPHA199343;MedGen:CN517202	SeSAME syndrome;not provided	germline	1	160041644	GTGGAGTCCACCAGTGCCACCTGTCAGGTGCGCACTTCCTACCTGCCAGAGGAGATCCTTT
80338756	23301	NM_201380.3(PLEC):c.6328C>T (p.Arg2110Trp)	PLEC	Oct 04, 2017	MedGen:C0432317,OMIM:131950,Orphanet:ORPHA79401,SNOMED CT:398071000;MedGen:CN517202	Epidermolysis bullosa simplex, Ogna type;not provided	germline	8	143924012	GAGCAGGCCGAGCTGGAGGCTGCGAGGCAGCGGCAGCTGGCGGCGGAGGAGGAGCGGCGGC
587783089	166462	NM_003159.2(CDKL5):c.700C>T (p.Gln234Ter)	CDKL5	Aug 07, 2013	MedGen:CN517202	not provided	germline	X	18588099	CAGAAGGTGCTAGGACCACTTCCATCTGAGCAGATGAAGCTTTTCTACAGTAATCCTCGCT
28937282	25268	NM_000132.3(F8):c.1730C>T (p.Ser577Phe)	F8	Feb 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154956979	TTGGCCCTCTCCTCATCTGCTACAAAGAATCTGTAGATCAAAGAGGAAACCAGGTGAGTTC
63751438	29295	NM_016835.4(MAPT):c.1852C>T (p.Pro618Ser)	MAPT	Dec 01, 2005	Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:CN517202	Frontotemporal dementia;not provided	germline	17	46010388	TGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACAC
373462792	54936	NM_016239.3(MYO15A):c.8767C>T (p.Arg2923Ter)	MYO15A	Feb 04, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	17	18157209	CGCAGGAAGGTGGTGTACCTGGAGGAGCTGCGACGTAGAGGCCCCGACTTTGGTGTGTGCC
121908915	21400	NM_002977.3(SCN9A):c.4391C>T (p.Thr1464Ile)	SCN9A	Dec 07, 2006	MedGen:C1833661,OMIM:167400,Orphanet:ORPHA46348	Paroxysmal extreme pain disorder	germline	2	166204439	TTTACCTTGGAGGTCAAGACATCTTTATGACAGAAGAACAGAAGAAATACTATAATGCAAT
755117226	389197	NM_000508.4(FGA):c.502C>T (p.Arg168Ter)	FGA	Sep 26, 2015	MedGen:C2584774,OMIM:202400,Orphanet:ORPHA98880	Afibrinogenemia, congenital	germline	4	154587520	AATGTTAGAGCTCAGTTGGTTGATATGAAACGACTGGAGGTAAGTATGTGGCTGTGGTCCC
141945265	48394	NM_012472.5(LRRC6):c.574C>T (p.Gln192Ter)	LRRC6	Nov 16, 2012	MedGen:C3543826,OMIM:614935	Ciliary dyskinesia, primary, 19	germline	8	132632819	AAACTCAAGGAAGAGGCTCAGAGGAAACACCAAGAAGAGGATAAAAATGAAGACAAGAGAA
104894902	26467	NM_001129765.1(NSDHL):c.628C>T (p.Gln210Ter)	NSDHL	Feb 14, 2000	MedGen:C0265267,OMIM:308050,Orphanet:ORPHA139,SNOMED CT:17608003	Child syndrome	germline	X	152865903	CCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCA
773317399	187657	NM_003673.3(TCAP):c.410C>T (p.Thr137Ile)	TCAP	Apr 21, 2015	MedGen:C1843791,OMIM:607487	Dilated cardiomyopathy 1N	germline	17	39666015	GTGTGGACCGCCAGGAGGTGGCTGAGATCACAAAGCAGCTGCCCCCTGTGGTGCCTGTCAG
104894648	22895	NM_018488.3(TBX4):c.184C>T (p.Gln62Ter)	TBX4	Jun 01, 2004	MedGen:C1840061,OMIM:147891,Orphanet:ORPHA1509	Ischiopatellar dysplasia	germline	17	61456674	GCCGACGTCGTCGCCGCCGCCGCCGCGGAGCAGGTAGGGCTGCGCCAGCCGTCGGGTAGAA
-1	469414	NM_001127221.1(CACNA1A):c.4429C>T (p.Gln1477Ter)	CACNA1A	Aug 07, 2017	MedGen:C4310716,OMIM:617106;MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	germline	19	13257514	AAGCATTCGGTGGACGCCACCTTTGAGAACCAGGGCCCCAGCCCCGGGTACCGCATGGAGA
121912593	17459	NM_001875.4(CPS1):c.130C>T (p.Gln44Ter)	CPS1	Jan 01, 2007	MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004	Congenital hyperammonemia, type I	germline	2	210573301	CTAAGATTCATGCAACTGTTTCTTCAGGCACAGACAGCACACATTGTCCTGGAAGATGGAA
104894333	32876	NM_000486.5(AQP2):c.374C>T (p.Thr125Met)	AQP2	Sep 01, 1998	MedGen:C4015884	Diabetes insipidus, nephrogenic, autosomal recessive	germline	12	49954168	CTCTTCTCTGTCCCCAGCTCAGCAACAGCACGACGGCTGGCCAGGCGGTGACTGTGGAGCT
137852927	18425	NM_001166136.1(EVC2):c.3025C>T (p.Gln1009Ter)	EVC2	Dec 01, 2002	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	germline	4	5576247	AGCAAGAGCCAGACATTACTGGAGCAACATCAGCAGTGGTATGCCGTGTGCCCCGTAGCAC
80338933	17521	NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter)	SH3TC2	Jul 27, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949;MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949;MedGen:CN043578;MedGen:C3150596,OMIM:613353;MedGen:C3150596,OMIM:613353;MedGen:CN239303;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, type 4C;Charcot-Marie-Tooth disease, type 4C;Charcot-Marie-Tooth disease, type IV;Mononeuropathy of the median nerve, mild;Mononeuropathy of the median nerve, mild;SH3TC2-Related Disorders;not provided	biparental;germline;unknown	5	149026872	GAAATGGCATTGCTGTTTGGCTTAAGGCATCGACATCTAAAGAGTAAGTATGTCCCATGCT
-1	461382	NM_000051.3(ATM):c.3673C>T (p.Gln1225Ter)	ATM	Jul 18, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108282806	GATTATCTGGTTTTGGAATGGCTAAATCTTCAAGATACTGAATACAACTTATCTTCTTTTC
587777297	132056	NM_152305.2(POGLUT1):c.835C>T (p.Arg279Trp)	POGLUT1	Jan 02, 2014	MedGen:C3810313,OMIM:615696	Dowling-degos disease 4	germline	3	119490588	TTTAATTTTCGAGGCGTAGCTGCAAGTTTCCGGTTTAAACACCTCTTCCTGTGTGGCTCAC
587778913	95212	NM_000249.3(MLH1):c.142C>T (p.Gln48Ter)	MLH1	Jan 20, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	3	36996644	GCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGT
1085307902	415562	NM_007294.3(BRCA1):c.376C>T (p.Gln126Ter)	BRCA1	Aug 20, 2015	MedGen:CN517202	not provided	germline	17	43104187	GAACATCTAAAAGATGAAGTTTCTATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAA
774005569	247581	NM_031307.3(PUS3):c.1303C>T (p.Arg435Ter)	PUS3	Jul 25, 2016	MedGen:C4310745,OMIM:617051	Mental retardation, autosomal recessive 55	germline	11	125893928	TCCCGGATCCAGCATTTTGTACGTAGGGGACGAATTGAGCACCCACATTTATTCCATGAGG
74315369	27822	NM_003000.2(SDHB):c.79C>T (p.Arg27Ter)	SDHB	Jul 20, 2017	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;MedGen:C1861848,OMIM:115310;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Gastrointestinal stroma tumor;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Paragangliomas 4;Pheochromocytoma;Pheochromocytoma	germline	1	17044882	TTTGTGAACTTTAAAAAATTTCAGGCCTCCCGAGGAGCCCAGACAGCTGCAGCCACAGCTC
1085307166	414093	NM_001204.6(BMPR2):c.124C>T (p.Q42*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464856	CGGCTATGTGCGTTTAAAGATCCGTATCAGCAAGACCTTGGGATAGGTGAGAGTAGAATCT
267606878	16091	NM_022489.3(INF2):c.652C>T (p.Arg218Trp)	INF2	Jan 01, 2010	MedGen:C2750475,OMIM:613237	Focal segmental glomerulosclerosis 5	germline	14	104703439	CCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCT
886041149	264940	NM_000061.2(BTK):c.1573C>T (p.Arg525Ter)	BTK	Sep 29, 2016	MedGen:CN517202	not provided	germline	X	101354688	CACTGGTCTCTGTTTGCACTACAGGCAGCTCGAAACTGTTTGGTAAACGATCAAGGAGTTG
373075574	360002	NM_017547.3(FOXRED1):c.406C>T (p.Arg136Trp)	FOXRED1	Nov 15, 2017	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline;inherited	11	126273068	CAGCTCTCCCTCTTTTCAGCCAGCTTTCTACGGAACATCAATGTAGGTGCAATGATATCCG
-1	484616	NM_000051.3(ATM):c.6181C>T (p.Gln2061Ter)	ATM	Aug 11, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108316096	CTCGAAACAGCAATCCCCTCATCAACACGCCAGGCAGGAATCATTCAGGTACATTTTTTCC
63750623	96458	NM_000251.2(MSH2):c.2470C>T (p.Gln824Ter)	MSH2	Dec 25, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47480707	TTCCCCAAATTTCTTATAGGTGTCTGTGATCAAAGTTTTGGGATTCATGTTGCAGAGCTTG
864309548	215123	NM_001271.3(CHD2):c.4921C>T (p.Gln1641Ter)	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	93020026	CTTTCTTTTCCTGCAGATCGAGGAGACTGGCAGAGGGAAAGAAAGTTCAACTATGGTGGTG
864321629	216918	NM_004606.4(TAF1):c.3736C>T (p.Arg1246Trp)	TAF1	Dec 03, 2015	MedGen:C4225418,OMIM:300966	Mental retardation, X-linked, syndromic 33	germline	X	71398627	CAACATCGGGAAGAGATGCGAAAAGAACGGCGGAGGATTCAAGAGCAACTGAGGCGGCTTA
80338716	34367	NM_014251.2(SLC25A13):c.550C>T (p.Arg184Ter)	SLC25A13	Jan 05, 2012	MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598	Neonatal intrahepatic cholestasis caused by citrin deficiency	not provided	7	96193102	AGGACTGGGAGAGTCACAGCCATCGACTTCCGAGACATCATGGTCACCATCCGCCCCCATG
28929483	16792	NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu)	MSH2	Nov 14, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I	germline	2	47475130	CAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAAT
104894621	23472	NM_000304.3(PMP22):c.215C>T (p.Ser72Leu)	PMP22	Apr 21, 2017	MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009;MedGen:C0011195,OMIM:145900,Orphanet:ORPHA64748,SNOMED CT:111499002;MedGen:CN069174;MedGen:CN517202	Charcot-Marie-Tooth disease, type I;Dejerine-Sottas disease;Dejerine-Sottas syndrome, autosomal dominant;not provided	germline	17	15239575	TGCAGTCTGTCCAGGCCACCATGATCCTGTCGATCATCTTCAGCATTCTGTCTCTGTTCCT
587777173	106766	NM_012229.4(NT5C2):c.85C>T (p.Arg29Ter)	NT5C2	Jan 31, 2014	Gene:100322879,MedGen:C3888209,OMIM:613162	Spastic paraplegia 45, autosomal recessive	germline	10	103174874	ATGGATAAGCATGCCCTGAAAAAGTATCGTCGAGAAGCCTATCATCGGTAAGTATTTTGTC
80358851	66685	NM_000059.3(BRCA2):c.6124C>T (p.Gln2042Ter)	BRCA2	Oct 26, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	13	32340479	GCTATACGTACTCCAGAACATTTAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATT
1057518900	360823	NM_002977.3(SCN9A):c.1642C>T (p.Arg548Ter)	SCN9A	Apr 21, 2015	Human Phenotype Ontology:HP:0007021,MedGen:C0344307	Pain insensitivity	unknown	2	166284785	AGCATTCGTGGCTCCTTGTTTTCTGCAAGGCGAAGCAGCAGAACAAGTCTTTTTAGTTTCA
80358663	46445	NM_000059.3(BRCA2):c.4222C>T (p.Gln1408Ter)	BRCA2	May 25, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32338577	GCATGTCATGGTAATACTTCAAATAAAGAACAGTTAACTGCTACTAAAACGGAGCAAAATA
-1	457447	NM_000083.2(CLCN1):c.220C>T (p.Gln74Ter)	CLCN1	Mar 10, 2017	MedGen:C0751360,OMIM:255700,SNOMED CT:20305008	Congenital myotonia, autosomal recessive form	germline	7	143319794	CATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAGAAGACAGGCT
886039480	260102	NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter)	PALB2	May 06, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002;MedGen:C1333600;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Fanconi anemia;Hereditary cancer;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	16	23629786	GGCAGCCCAGCAAAACCACATACCACCCTGCAAGTGTCAGGCAGGCAAGGACAACCTACCT
781764920	205718	NM_004168.3(SDHA):c.223C>T (p.Arg75Ter)	SDHA	Nov 02, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3279992,OMIM:614165;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Paragangliomas 5;not provided	germline	5	224432	GTGGTGGTAGGCGCTGGAGGGGCAGGCTTGCGAGCTGCATTTGGCCTTTCTGAGGCAGGGT
63750726	95433	NM_000249.3(MLH1):c.1961C>T (p.Pro654Leu)	MLH1	Sep 16, 2015	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	3	37048581	ACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGT
121918259	16913	NM_020376.3(PNPLA2):c.584C>T (p.Pro195Leu)	PNPLA2	Nov 01, 2011	MedGen:C1853136,OMIM:610717,Orphanet:ORPHA98908	Neutral lipid storage disease with myopathy	germline	11	822494	CCCCCTTCTCGGGCGAGAGTGACATCTGTCCGCAGGACAGCTCCACCAACATCCACGAGCT
387906875	39354	NM_004281.3(BAG3):c.367C>T (p.Arg123Ter)	BAG3	May 27, 2017	MedGen:CN230736;MedGen:C3151293,OMIM:613881;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Cardiovascular phenotype;Dilated cardiomyopathy 1HH;Primary dilated cardiomyopathy;not provided	germline	10	119670037	GTCTATCCCCAGCCTGGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGA
-1	485829	NM_000044.4(AR):c.217C>T (p.Gln73Ter)	AR	Dec 08, 2003	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67545363	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTA
80358971	67007	NM_000059.3(BRCA2):c.7471C>T (p.Gln2491Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline;somatic	13	32356463	ATTACAAGTCTTCAGAATGCCAGAGATATACAGGATATGCGAATTAAGAAGAAACAAAGGC
1057517657	359026	NM_032667.6(BSCL2):c.142C>T (p.Leu48Phe)	BSCL2	Dec 08, 2016	MedGen:C1720863,OMIM:269700	Congenital generalized lipodystrophy type 2	germline	11	62705371	ATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTATATGC
397515466	76944	NM_018127.6(ELAC2):c.1267C>T (p.Leu423Phe)	ELAC2	Aug 08, 2013	MedGen:C3809526,OMIM:615440,Orphanet:ORPHA369913	Combined oxidative phosphorylation deficiency 17	germline	17	13002311	AGTGTGCCCATGGTTCAGGGTGAATGCCTCCTCAAGTACCAGCTCCGTCCCAGGAGGGAGT
80356559	34245	NM_004085.3(TIMM8A):c.112C>T (p.Gln38Ter)	TIMM8A	Feb 06, 2003	MedGen:C0796074,OMIM:304700,Orphanet:ORPHA52368	Mohr-Tranebjaerg syndrome	not provided	X	101348553	CAAAAGCAGCGCTTCCAGCAGCTGGTGCACCAGATGACTGAACTTTGTTGGGTGAGGAGCC
766420907	391354	NM_001128425.1(MUTYH):c.1240C>T (p.Gln414Ter)	MUTYH	Sep 25, 2016	MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798	MYH-associated polyposis	germline	1	45331503	TTCCCGTCCGTGACCTGGGAGCCCTCAGAGCAGCTTCAGCGCAAGGCCCTGCTGCAGGAAC
104894860	25529	NM_000202.7(IDS):c.514C>T (p.Arg172Ter)	IDS	Aug 14, 2017	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline	X	149498301	TGTTATATTATTTTGTTTTGAAAGACATGTCGAGGGCCAGATGGAGAACTCCATGCCAACC
121918330	16157	NM_017875.3(SLC25A38):c.349C>T (p.Arg117Ter)	SLC25A38	Jun 01, 2009	MedGen:C2673914,OMIM:205950,Orphanet:ORPHA255132	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive	germline	3	39391513	ACTCTCTACTCTTTGAAGCAGTATTTCTTGCGAGGCCATCCCCCAACCGCCCTGGAGTCAG
1057520053	363661	NM_001197104.1(KMT2A):c.11230C>T (p.Arg3744Ter)	KMT2A	Dec 06, 2016	MedGen:CN517202	not provided	de novo;germline	11	118519701	ATTGAGCAGCTGTCTGGTGCCAAGCACTGTCGAAATTACAAATTCCGTTTCCACAAGCCAG
80358807	66607	NM_000059.3(BRCA2):c.5791C>T (p.Gln1931Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32340146	TTTGCTGACATTCAGAGTGAAGAAATTTTACAACATAACCAAAATATGTCTGGATTGGAGA
121909012	22180	NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117594990	CCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTT
796052728	201918	NM_002397.4(MEF2C):c.43C>T (p.Arg15Cys)	MEF2C	Jan 03, 2017	MedGen:CN517202	not provided	germline	5	88823746	AAGATTCAGATTACGAGGATTATGGATGAACGTAACAGACAGGTGAGTGGAGTAAACTTTT
886052321	344037	NM_021615.4(CHST6):c.892C>T (p.Gln298Ter)	CHST6	Jun 14, 2016	MedGen:C1636149,OMIM:217800,Orphanet:ORPHA98969,SNOMED CT:418054005	Macular corneal dystrophy Type I	germline	16	75478937	TACGCCTTCACTGGGCTCAGTCTCACGCCACAGCTCGAGGCCTGGATCCATAACATCACCC
1060502761	401133	NM_024675.3(PALB2):c.1435C>T (p.Gln479Ter)	PALB2	Oct 11, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	16	23635111	TGCACAGGACAACCAAGTTCAAGAACCTCTCAGAAACTTCTCTCATTAACTAAAGTCAGCT
371214841	440178	NM_001080463.1(DYNC2H1):c.7966C>T (p.Arg2656Cys)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	maternal	11	103199354	TTCCCTGGAGGTTCACTTCTATTAGCAGGACGCAGTGGTGTAGGTCGTCGGACCATCACTT
928945364	486874	NM_001271208.1(NEB):c.11164C>T (p.Arg3722Ter)	NEB	Sep 09, 2016	MedGen:C0206157,Orphanet:ORPHA607,SNOMED CT:75072002	Nemaline myopathy	germline	2	151617381	ACACCAGAAATCATGTTAGCCAAACTCAACCGAATAAACTACAGTGATGTAAGTAAACTGT
398123373	98863	NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter)	LAMA2	Jul 03, 2017	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008;MedGen:CN517202	Merosin deficient congenital muscular dystrophy;not provided	germline	6	129316089	GATGATCCTCGAGTCCATAGAACTGTGACCCGAGAAGACTTCTTGGATATACTATATGATA
-1	441805	NM_000296.3(PKD1):c.12028C>T (p.Gln4010Ter)	PKD1	Oct 21, 2016	MedGen:CN517202	not provided	germline	16	2090781	CAGGCTGCCCAGCAGCTACGCTTCGTGCGCCAGTGGTCCGTCTTTGGCAAGACATTATGCC
1057517700	359330	NM_000350.2(ABCA4):c.1834C>T (p.Gln612Ter)	ABCA4	Jul 20, 2015	MedGen:CN517202	not provided	germline	1	94062680	CGGTACATCTGGGGCGGGTTTGCCTATCTGCAGGACATGGTTGAACAGGGGATCACAAGGA
104894159	31789	NM_000399.4(EGR2):c.1225C>T (p.Arg409Trp)	EGR2	Oct 18, 2012	MedGen:C1843247,OMIM:607678,Orphanet:ORPHA101084	Charcot-Marie-Tooth disease, demyelinating, type 1d	germline	10	62813413	GCCTGTGACTACTGTGGCCGAAAGTTTGCCCGGAGTGATGAGAGGAAGCGCCACACCAAGA
77103971	76972	NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp)	RNASEH2A	Mar 13, 2014	MedGen:C1835912,OMIM:610333	Aicardi Goutieres syndrome 4	germline	19	12810323	TCCAGGTGCCTGTTTTGCCCACAGGTGGCCCGGGACCAGGCCGTGAAGAAATGGCAGTTCG
119485089	20070	NM_022041.3(GAN):c.1447C>T (p.Gln483Ter)	GAN	Nov 01, 2000	MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:128207002	Giant axonal neuropathy	germline	16	81365423	TTTGGGGGAGTCCGAAGTCGTGAGGACGCCCAGGGTAGCGAGATGGTAACTTGCAAGTCCG
119473038	19215	NM_014140.3(SMARCAL1):c.1756C>T (p.Arg586Trp)	SMARCAL1	Jan 01, 2009	MedGen:C0877024,OMIM:242900,Orphanet:ORPHA1830	Schimke immunoosseous dysplasia	germline	2	216447063	ATCCTGTTGTCGGGCACACCAGCCATGTCCCGGCCCGCAGAGCTCTACACGCAGATCATCG
28939085	19911	NM_000197.1(HSD17B3):c.695C>T (p.Ser232Leu)	HSD17B3	May 01, 1994	MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006	Testosterone 17-beta-dehydrogenase deficiency	germline	9	96240885	CGTTGTAGGTGCTGACCCCATATGCTGTCTCGACTGCAATGACAAAGTATCTAAATACAAA
104894149	16833	NM_000102.3(CYP17A1):c.1039C>T (p.Arg347Cys)	CYP17A1	Dec 01, 2002	MedGen:C3277851	Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102832611	GGTTTCAGCCGCACACCAACTATCAGTGACCGTAACCGTCTCCTCCTGCTGGAGGCCACCA
138671904	482113	NM_003119.3(SPG7):c.1369C>T (p.Arg457Ter)	SPG7	Aug 16, 2017	MedGen:CN517202	not provided	germline	16	89544692	GACCATGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGATGA
876659539	233080	NM_000038.5(APC):c.3211C>T (p.Gln1071Ter)	APC	Aug 22, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112838805	AAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGA
376823689	214419	NM_004366.5(CLCN2):c.2386C>T (p.Gln796Ter)	CLCN2	Sep 09, 2015	MedGen:C3810242,OMIM:615651,Orphanet:ORPHA363540	Leukoencephalopathy with ataxia	germline	3	184352042	AGTGACTGCAAAATTGATCCTGCTCCCTTCCAGCTGGTGGAGCGGACCTCTTTGCACAAGG
869025314	223697	NM_173471.3(SLC25A26):c.305C>T (p.Ala102Val)	SLC25A26	Oct 20, 2017	MedGen:C4225206,OMIM:616794,Orphanet:ORPHA466784	Combined oxidative phosphorylation deficiency 28	germline	3	66262055	AGGATATAATCAAATTTGTCTTTTAGGTTGCCTGCCTGATTCGAGTTCCATCTGAAGTGGT
746709222	205750	NM_018238.3(AGK):c.409C>T (p.Arg137Ter)	AGK	Sep 18, 2017	MedGen:C1859317,OMIM:212350,Orphanet:ORPHA1369;MedGen:CN517202	Cataract and cardiomyopathy;not provided	germline;paternal	7	141614164	TTACATTTGTAGGTTGTTACTGGTGTTCTTCGACGAACAGATGAGGTGAGCATTAAAGAGT
28940872	18868	NM_000017.3(ACADS):c.1147C>T (p.Arg383Cys)	ACADS	Aug 14, 2017	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007;MedGen:CN517202	Deficiency of butyryl-CoA dehydrogenase;not provided	germline;unknown	12	120739356	GTGACAGAGATGCCGGCAGAGCGGCACTACCGCGACGCCCGCATCACTGAGATCTACGAGG
1057524391	375131	NM_152641.3(ARID2):c.2872C>T (p.Gln958Ter)	ARID2	Jan 13, 2017	MedGen:CN517202	not provided	germline	12	45850995	CTTGCTAATCCAGCAGCTCTTCCAGCTGGTCAGACAGTTCAGCTAACTGGACAACCTAACA
-1	442146	NM_000435.2(NOTCH3):c.1261C>T (p.Arg421Cys)	NOTCH3	Aug 27, 2014	MedGen:CN517202	not provided	germline	19	15189106	ACGCAGGGCTCCTTCCTGTGCCAGTGCGGTCGTGGCTACACTGGACCTCGCTGTGAGACCG
180177182	200451	NM_000030.2(AGXT):c.205C>T (p.Gln69Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869209	GAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCT
768831533	424477	NM_025145.6(CFAP43):c.4132C>T (p.Arg1378Ter)	CFAP43	Jul 25, 2017	MedGen:CN349872,OMIM:617592	SPERMATOGENIC FAILURE 19	germline	10	104143452	TTGGTCTGGAATCATTTCTGCATGACAAGACGAGCAAAAGTGGAAAATGAACAGAAAGTAT
794728165	197808	NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter)	FBN1	Aug 17, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48520716	ACCAAAATGCAGTGCTGCTGTGATGCCGGCCGATGCTGGTCTCCAGGGGTCACTGTCGCCC
587778992	95568	NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter)	MLH1	Jan 13, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37050606	AAACATTTCACAGAAGATGGAAATATCCTGCAGCTTGCTAACCTGCCTGATCTATACAAAG
121913281	48304	NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;MedGen:C0153368;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;MedGen:C1865285,OMIM:602501;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adrenocortical carcinoma;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Malignant tumor of floor of mouth;Medulloblastoma;Megalencephaly cutis marmorata telangiectatica congenita;Neoplasm of brain;Neoplasm of the breast;Non-small cell lung cancer;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;Uterine cervical neoplasms	somatic	3	179234296	GAGTATTTCATGAAACAAATGAATGATGCACATCATGGTGGCTGGACAACAAAAATGGATT
119468010	18665	NM_000250.1(MPO):c.1705C>T (p.Arg569Trp)	MPO	Aug 18, 2016	MedGen:C0398595,OMIM:254600,Orphanet:ORPHA2587,SNOMED CT:129644003,SNOMED CT:234433009;MedGen:CN517202	Myeloperoxidase deficiency;not provided	germline;paternal	17	58272835	CGTCAGAACCAAATTGCAGTGGATGAGATCCGGGAGCGATTGTTTGAGCAGGTCATGAGGA
1057520585	365204	NM_006015.4(ARID1A):c.1390C>T (p.Gln464Ter)	ARID1A	Apr 03, 2015	MedGen:CN517202	not provided	germline	1	26731191	TATGGACAACAAGGCCCCAGCGGGTATGGTCAACAGGGCCAGACTCCATATTACAACCAGC
121908316	19652	NM_032383.4(HPS3):c.1189C>T (p.Arg397Trp)	HPS3	Oct 11, 2012	MedGen:C3888001,OMIM:614072	Hermansky-Pudlak syndrome 3	germline	3	149150624	CTCAGTAACAACCTGCAGTGTTTCACTGTGCGGTGCAGTGCGGCGGCAGCTCGTGAGGAGG
368260932	45639	NM_001277115.1(DNAH11):c.8698C>T (p.Arg2900Ter)	DNAH11	Dec 16, 2015	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C2678473,OMIM:611884	Ciliary dyskinesia;Ciliary dyskinesia, primary, 7	germline	7	21749702	TTACAGGTAGATCTTGCCAATTTGTACATCCGAACTGGAGCCAAGAACATGCCCACTGTGT
886042045	264322	NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter)	COL5A1	Oct 14, 2016	MedGen:CN517202	not provided	germline	9	134809213	GGCGAGAAAGGCCCACAAGGCCCAGCTGGCCGAGACGGTCTCCAGGGGCCTGTGGGGCTCC
398123708	100051	NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter)	KMT2D	Jul 30, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49033013	AAACTGAGCGCTCAGCCCATGGGCTCTTTACAGCAGCTTCAGCAGCAGCAGCAGCTGCAAC
121434594	28997	NM_002880.3(RAF1):c.781C>T (p.Pro261Ser)	RAF1	Oct 06, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1969057,OMIM:611553;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Noonan syndrome 5;Primary familial hypertrophic cardiomyopathy;Rasopathy;not provided	germline;somatic	3	12604189	CTCTCCCAGAGGCAGAGGTCGACATCCACACCTAATGTCCACATGGTCAGCACCACCCTGC
369879957	200154	NM_000048.3(ASL):c.649C>T (p.Arg217Ter)	ASL	Sep 29, 2016	MedGen:CN517202	not provided	germline	7	66087380	AATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCC
748653573	227079	NM_001904.3(CTNNB1):c.2128C>T (p.Arg710Cys)	CTNNB1	Aug 15, 2017	MedGen:CN321863,OMIM:617572;MedGen:C1851402,OMIM:133780	EXUDATIVE VITREORETINOPATHY 7;Exudative vitreoretinopathy 1	germline	3	41238067	ATTGGTGCCCAGGGAGAACCCCTTGGATATCGCCAGGATGGTATGTGTCTCATATTTCTCG
886038075	248937	NM_000059.3(BRCA2):c.2548C>T (p.Gln850Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32336903	ATGAGAGTAGCATCACCTTCAAGAAAGGTACAATTCAACCAAAACACAAATCTAAGAGTAA
202193201	15077	NM_001201543.1(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A	Oct 18, 2016	MedGen:C1853734,OMIM:606068	Retinitis pigmentosa 28	germline;unknown	2	61839437	CCTCCCGTGCCCACGGTATCTTCCAGAGGACGAGAACAAGCCGTAAGGTAAGTAAGTAGGA
72554645	209250	NM_000052.6(ATP7A):c.2383C>T (p.Arg795Ter)	ATP7A	Nov 20, 2017	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007;MedGen:CN517202	Menkes kinky-hair syndrome;not provided	germline	X	78013089	CCTATGCTGTTTGTGTTTATTGCACTAGGCCGATGGCTGGAACATATAGCAAAGGTAAAGT
-1	479651	NM_058216.2(RAD51C):c.277C>T (p.Gln93Ter)	RAD51C	Jan 06, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	58695062	AAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCT
587776977	59815	NM_001242896.1(DEPDC5):c.982C>T (p.Arg328Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31802739	GATAAGCACTACATCAACCGCAACTTTGACCGAACTGGGCAGATGTCAGTGGTGATCACGC
1131692216	424330	NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11116897	AGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACG
67418243	103043	NM_000531.5(OTC):c.274C>T (p.Arg92Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369853	TTAGGCATGATTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAGGTAAGT
193919340	19014	NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter)	ALMS1	Oct 01, 2007	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome	germline	2	73490120	TTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTG
387906668	38784	NM_001111035.2(ACP5):c.266C>T (p.Thr89Ile)	ACP5	Feb 01, 2011	MedGen:C1842763,OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	germline	19	11576839	AGGCCTGCCCTATCTGTTTGCTACAGGAGACCTTTGAGGACGTATTCTCTGACCGCTCCCT
121918386	32926	NM_000384.2(APOB):c.6253C>T (p.Arg2085Ter)	APOB	Jun 15, 1989	MedGen:C1862596,Orphanet:ORPHA426,SNOMED CT:60193003	Familial hypobetalipoproteinemia	germline	2	21010615	GAGACCTTGCAAGAATATTTTGAGAGGAATCGACAAACCATTATAGTTGTACTGGAAAACG
113993973	34189	NM_002863.4(PYGL):c.280C>T (p.Arg94Ter)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	not provided	14	50937801	TATTACCTCTCTCTGGAATTTTACATGGGCCGAACATTACAGAACACCATGATCAACCTCG
267608663	153540	NM_003159.2(CDKL5):c.2593C>T (p.Gln865Ter)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo;germline	X	18628467	TCAGATCCCCGCTTCCAGCCCTTAACAGCTCAACAAACCAAAAATTCCTTCTCAGAAATTC
181860632	202934	NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp)	POLG	Oct 09, 2017	MedGen:CN517202	not provided	germline	15	89319065	CAGTGGAAGAAGTGGGAGGTGGTTGCTGAACGGGCATGGAAGGGGGGCACAGAGTCAGAAA
587783695	168909	NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter)	KMT2D	Jan 02, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49026905	GAGTTTATGGAGCAGCTTGGCACAGCCTTGCGACCTGACAAGGTACCGCGAGACATGCGTC
587777198	106832	NM_006612.5(KIF1C):c.505C>T (p.Arg169Trp)	KIF1C	Mar 06, 2014	MedGen:C1969796,OMIM:611302,Orphanet:ORPHA397946	Ataxia, spastic, 2, autosomal recessive	germline	17	5002539	AACCCCAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTACGTGC
121912869	32399	NM_001844.4(COL2A1):c.625C>T (p.Arg209Ter)	COL2A1	Nov 09, 2017	MedGen:C2020284,OMIM:108300;MedGen:CN517202	Stickler syndrome type 1;not provided	germline	12	47995904	TCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTG
587783685	168920	NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter)	KMT2D	Aug 22, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49032113	GTTGGAATCATGCCTACGGTGGGTCAGCTTCGAGCACAGCTCCAAGGAGTCCTGGCCAAAA
376788209	424479	NM_025145.6(CFAP43):c.253C>T (p.Arg85Trp)	CFAP43	Jul 25, 2017	MedGen:CN349872,OMIM:617592	SPERMATOGENIC FAILURE 19	germline	10	104230656	ATCCCCTGTGAAGTTGTGGCTTTTTCTGACCGGAAGCTAAAACCTCTCATCTACGTATACA
-1	428130	NM_032638.4(GATA2):c.1084C>T (p.Arg362Ter)	GATA2	Sep 24, 2015	MedGen:CN118027	Leukemia, acute myeloid, susceptibility to	germline	3	128481878	TGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACG
773740590	481337	NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter)	ARID1B	Sep 08, 2017	MedGen:CN029606,OMIM:135900;MedGen:CN517202	Coffin-Siris syndrome 1;not provided	de novo;germline	6	157196311	CAGCAGTTTCCCTATGGAGCCAGTTACGACCGAAGGTGAGTATTTTTTAAGATGACAATAT
727503912	177085	NM_003494.3(DYSF):c.5266C>T (p.Gln1756Ter)	DYSF	Feb 20, 2017	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;not provided	germline	2	71667441	GTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGG
121913303	132350	NM_000321.2(RB1):c.1654C>T (p.Arg552Ter)	RB1	Sep 15, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline;somatic	13	48381402	TTGACAAGAGAAATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCTTG
587783478	169267	NM_004380.2(CREBBP):c.316C>T (p.Gln106Ter)	CREBBP	Jun 27, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3850779	CAGCAGGGCCTGGGTGGCCAGGCTCAAGGGCAGCCGAACAGTGCTAACATGGCCAGCCTCA
34667348	28657	NM_000293.2(PHKB):c.1969C>T (p.Gln657Ter)	PHKB	Jun 14, 2016	MedGen:C0268147,Orphanet:ORPHA370,SNOMED CT:235908005;MedGen:C0543514,OMIM:261750,Orphanet:ORPHA79240	Glycogen phosphorylase kinase deficiency;Glycogen storage disease IXb	germline	16	47650919	GGAGGAGTCAAAGTTCATGTGGATCGTCTACAGGTAGCCTTCTGATTTTCAGTATGCATCT
104894608	21733	NM_005450.4(NOG):c.668C>T (p.Pro223Leu)	NOG	Mar 01, 1999	Human Phenotype Ontology:HP:0100264,MedGen:C1861385,OMIM:185800,Orphanet:ORPHA3250	Cushing's symphalangism	germline	17	56594891	AGCGCTGCGGCTGGATTCCCATCCAGTACCCCATCATTTCCGAGTGCAAGTGCTCGTGCTA
587779350	132700	NM_001111283.2(IGF1):c.292C>T (p.Arg98Trp)	IGF1	-	MedGen:C1837475,OMIM:608747,Orphanet:ORPHA73272	Insulin-like growth factor I deficiency	germline	12	102419619	CAGACAGGCATCGTGGATGAGTGCTGCTTCCGGAGCTGTGATCTAAGGAGGCTGGAGATGT
863225362	214662	NM_000038.5(APC):c.487C>T (p.Gln163Ter)	APC	Jul 18, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;not provided	germline;unknown	5	112775693	AAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTC
74315432	20286	NM_014588.5(VSX1):c.496C>T (p.Arg166Trp)	VSX1	May 01, 2002	MedGen:C1835677,OMIM:148300	Keratoconus 1	germline	20	25079443	TCCCCCACCTTGGGCAAGAGGAAGAAGCGGCGGCACAGGTATAGGGCCAGGCAGTCCCCTC
-1	472522	NM_000465.3(BARD1):c.1744C>T (p.Gln582Ter)	BARD1	Feb 29, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214745788	CTTATAGGCAGTGGGCTGTCTTCAGAACAACAGAAAATGCTCAGTGAGCTTGCAGTAATTC
587784286	169373	NM_000430.3(PAFAH1B1):c.730C>T (p.Gln244Ter)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2674118	AGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCA
60580541	29552	NM_170707.3(LMNA):c.1586C>T (p.Ala529Val)	LMNA	Sep 01, 2005	MedGen:C0432291,OMIM:248370,Orphanet:ORPHA2457,SNOMED CT:109419009;MedGen:CN517202	Mandibuloacral dysostosis;not provided	germline	1	156137210	CCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAG
121434256	18349	NM_000383.3(AIRE):c.415C>T (p.Arg139Ter)	AIRE	Nov 30, 2016	MedGen:C0085859,OMIM:240300,Orphanet:ORPHA3453,SNOMED CT:11244009;MedGen:CN517202	Polyglandular autoimmune syndrome, type 1;not provided	germline;unknown	21	44287085	CCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAA
786204536	186985	NM_000018.3(ACADVL):c.685C>T (p.Arg229Ter)	ACADVL	Feb 02, 2016	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202	Very long chain acyl-CoA dehydrogenase deficiency;not provided	germline;unknown	17	7222014	CCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAA
281865118	20552	NM_014363.5(SACS):c.7504C>T (p.Arg2502Ter)	SACS	Sep 03, 2015	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	germline;unknown	13	23336372	GTAGCAGTAAAACTAGGAGCAGTCCCAAAGCGACACAAAGCCTTAGAAAGATATGCATCCA
61751296	15338	NM_000552.4(VWF):c.7603C>T (p.Arg2535Ter)	VWF	Jun 26, 2016	MedGen:CN517202;MedGen:C1264041,Orphanet:ORPHA166096,SNOMED CT:128108002	not provided;von Willebrand disease type 3	germline	12	5969337	GAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAA
749066913	31908	NM_000031.5(ALAD):c.165-11C>T	ALAD	Jan 01, 2004	MedGen:C0268328,OMIM:612740,Orphanet:ORPHA95157,SNOMED CT:64081000	Porphobilinogen synthase deficiency	germline	9	113391634	GGACCTGCCTTCCTTCAACCCCTCTACCCACACCCACACAGGTATGGTGTGAAGCGGCTGG
63749795	95218	NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter)	MLH1	Jun 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	3	37028833	TCTGATGTGGAAATGGTGGAAGATGATTCCCGAAAGGAAATGACTGCAGCTTGTACCCCCC
-1	439324	NM_130838.2(UBE3A):c.1444C>T (p.Arg482Ter)	UBE3A	Sep 06, 2017	MedGen:CN517202	not provided	germline	15	25370670	TATGACAATAGAATTCGCATGTACAGTGAACGAAGAATCACTGTTCTCTACAGCTTAGTTC
35878526	46992	NM_024312.4(GNPTAB):c.832C>T (p.Gln278Ter)	GNPTAB	May 10, 2012	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006	Mucopolysaccharidosis, MPS-III-A	not provided	12	101771097	CTTCTAAAACTGAATAACCCCAAGGATTTTCAAGAATTGAATAAGCAAACTAAGAAGAACA
886039429	259674	NM_005595.4(NFIA):c.361C>T (p.Arg121Cys)	NFIA	Mar 20, 2017	MedGen:CN517202	not provided	germline	1	61088482	AAAGGCAAGATGCGAAGAATTGACTGCCTCCGCCAGGCAGATAAAGTCTGGAGGTTGGACC
587783268	167720	NM_018136.4(ASPM):c.7612C>T (p.Gln2538Ter)	ASPM	Feb 08, 2013	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197101639	ATCAGACAATGGCATTCTGCTGTGGTTATTCAGGCTGCATATAAAGGAATGAAAGCAAGAC
28933383	33979	NM_000217.2(KCNA1):c.677C>T (p.Thr226Met)	KCNA1	Aug 16, 2012	MedGen:C1719788,OMIM:160120,Orphanet:ORPHA37612,SNOMED CT:421182009	Episodic ataxia type 1	not provided	12	4912055	TCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCT
143441644	187092	NM_016035.4(COQ4):c.718C>T (p.Arg240Cys)	COQ4	Oct 19, 2017	MedGen:C4225392,OMIM:616276,Orphanet:ORPHA457185;MedGen:CN517202	Coenzyme Q10 deficiency, primary, 7;not provided	germline;maternal	9	128333565	CCATGTGTCCTCAACCTGTACTATGAGCGGCGCTGGGAGCAGTCCCTGAGGGCTCTGCGGG
1057519338	362081	NM_015365.2(AMMECR1):c.502C>T (p.Arg168Ter)	AMMECR1	Jan 25, 2018	MedGen:C4310810,OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	germline;maternal	X	110264571	AGCCCACTGTTTGTAACATGGAAGATTGGTCGAGACAAAAGATTACGTGGATGCATAGGTA
121965085	26899	NM_000260.3(MYO7A):c.1996C>T (p.Arg666Ter)	MYO7A	Jan 15, 2014	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:C1848638	Usher syndrome, type 1;Usher syndrome, type 1B	germline	11	77174816	CTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCT
267607046	15229	NM_001017995.2(SH3PXD2B):c.127C>T (p.Arg43Trp)	SH3PXD2B	Feb 12, 2010	MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834	Frank Ter Haar syndrome	germline	5	172422445	TGGTCCAGCGGCTCCACCGAGGCCATTTACCGGCGCTACAGCAAGTTTTTTGACCTCCAGG
794728381	197234	NM_000238.3(KCNH2):c.2026C>T (p.Gln676Ter)	KCNH2	Feb 02, 2014	MedGen:CN517202	not provided	germline	7	150951040	CTGTACTCGGGCACAGCCCGCTACCACACACAGATGCTGCGGGTGCGGGAGTTCATCCGCT
796053248	201157	NM_006516.2(SLC2A1):c.667C>T (p.Arg223Trp)	SLC2A1	Aug 11, 2017	MedGen:C3149117;MedGen:CN517202	GLUT1 deficiency syndrome 1, autosomal recessive;not provided	germline	1	42929885	TTCCTGCTCATCAACCGCAACGAGGAGAACCGGGCCAAGAGTGGTACGGGCATGGCCCTGC
562139820	397593	NM_001080463.1(DYNC2H1):c.10606C>T (p.Arg3536Ter)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:CN674505	Jeune thoracic dystrophy;Short-rib polydactyly syndrome type III	germline;unknown	11	103257731	AGTTTGGCTGCTTTTCTCCGACTTTTCCAACGAGCTCTACAAAACAAACAGGTAAGCTGTT
1064793890	406930	NM_004415.3(DSP):c.8014C>T (p.Gln2672Ter)	DSP	Jul 13, 2015	MedGen:CN517202	not provided	germline	6	7585276	CACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACC
118203893	24591	m.5877C>T	MT-TY	Oct 01, 2001	MedGen:C0022541,OMIM:530000,Orphanet:ORPHA480	Kearns Sayre syndrome	somatic	MT	5877	CTGTCTTTAGATTTACAGTCCAATGCTTCACTCAGCCATTTTACCTCACCCCCACTGATGT
587777419	137062	NM_139242.3(MTFMT):c.73C>T (p.Gln25Ter)	MTFMT	Mar 01, 2014	MedGen:C3554182,OMIM:614947,Orphanet:ORPHA319524	Combined oxidative phosphorylation deficiency 15	germline	15	65029541	CATGGCGCCAGGCGTGGGAGGCCGAGTCCCCAGTGGCGAGCACTGGCCCGACTCGGCTGGG
45469298	58805	NM_000548.4(TSC2):c.1831C>T (p.Arg611Trp)	TSC2	Apr 18, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2070570	AGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCA
121434287	18576	NM_130849.3(SLC39A4):c.599C>T (p.Pro200Leu)	SLC39A4	Jul 01, 2002	MedGen:C0221036,OMIM:201100,Orphanet:ORPHA37,SNOMED CT:37702000	Hereditary acrodermatitis enteropathica	germline	8	144415295	TCAGGAGCGGGTCTTGCTTCCACGCCTTGCCGAGCCCTCAGTACTTCGTGGACTTTGTGTT
28919570	38853	NM_000616.4(CD4):c.793C>T (p.Arg265Trp)	CD4	Sep 01, 1993	MedGen:C3151379,OMIM:613949	Okt4 epitope deficiency	germline	12	6816241	GACCTGAAGAACAAGGAAGTGTCTGTAAAACGGGTTACCCAGGACCCTAAGCTCCAGATGG
72653793	426934	NM_001171.5(ABCC6):c.2419C>T (p.Arg807Trp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16177623	TGTAACTTCTACCCCTTCCCTGCCCAGACACGGATTCTCGTGACGCACGCACTCCACATCC
769350713	429646	NM_001211.5(BUB1B):c.340C>T (p.Arg114Ter)	BUB1B	Oct 12, 2016	MedGen:CN031748,OMIM:257300	Mosaic variegated aneuploidy syndrome 1	germline	15	40170637	AGAGCTGTAGAAGCACTACAAGGAGAAAAACGATATTATAGTGATCCTCGATTTCTCAATC
587783455	168630	NM_017780.3(CHD7):c.7252C>T (p.Arg2418Ter)	CHD7	Apr 18, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60856532	GAAATTGAGGCCGAAAGAGCTGCCAAGAGGCGAAATCTCATGGAGATGGTTGCCCAGCTTC
1057518414	359925	NM_003070.4(SMARCA2):c.3484C>T (p.Arg1162Cys)	SMARCA2	Dec 06, 2016	MedGen:CN517202	not provided	germline	9	2115849	CAGGATCTGCAGGCCCAAGACCGAGCTCACCGCATCGGGCAGCAGAACGAGGTCCGGGTAC
797045584	207085	NM_032682.5(FOXP1):c.1507C>T (p.Arg503Ter)	FOXP1	Jan 09, 2017	MedGen:C3150923,OMIM:613670;MedGen:CN517202	Mental retardation with language impairment and with or without autistic features;not provided	germline	3	70976964	AACTGGTTCACACGAATGTTTGCTTACTTCCGACGCAACGCGGCCACGTGGAAGGTAAGCT
587783698	168904	NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter)	KMT2D	Feb 08, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49024887	GCTGCCATGAGAAAAGAGGCTGACATGCTGCGACTCTTCCCTGAGTATCTGAAGGGCGAGG
267606623	24149	NM_001287174.1(ABCC8):c.134C>T (p.Pro45Leu)	ABCC8	Aug 01, 2007	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	germline	11	17476643	CGCACGTCTTCCTACTCTTCATCACCTTCCCCATCCTCTTCATTGGTGAGTGCGCGCAGCG
121913569	29329	NM_000426.3(LAMA2):c.3718C>T (p.Gln1240Ter)	LAMA2	Apr 03, 2013	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129315638	TTGGAACCTTTTTATTGGAAACTTCCAGAACAATTTGAAGGAAAGAAGGTAAGCACAAGAA
28940314	17088	NM_152443.2(RDH12):c.146C>T (p.Thr49Met)	RDH12	Dec 15, 2005	MedGen:C2675186,OMIM:612712	Leber congenital amaurosis 13	germline	14	67724550	GCAAGGTAGTGGTGATCACTGGCGCCAACACGGGCATTGGCAAGGAGACGGCCAGAGAGCT
34315806	404644	NM_002111.8(HTT):c.3785C>T (p.Thr1262Met)	HTT	Apr 15, 2017	MedGen:CN643601,OMIM:617435	Lopes-Maciel-Rodan syndrome	germline	4	3160307	CCAAGGTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTTGGAGGGTTTCTCCGCTCAGC
797045046	205793	NM_000516.5(GNAS):c.34C>T (p.Gln12Ter)	GNAS	Oct 07, 2014	Human Phenotype Ontology:HP:0000852,MedGen:C0033806,OMIM:103580,Orphanet:ORPHA97593;MedGen:C0033835,OMIM:612463,Orphanet:ORPHA79445,SNOMED CT:237659007	Pseudohypoparathyroidism type 1A;Pseudopseudohypoparathyroidism	germline	20	58891760	GGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGG
180177184	200456	NM_000030.2(AGXT):c.242C>T (p.Ser81Leu)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869246	GGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGT
879254898	246151	NM_000527.4(LDLR):c.1426C>T (p.Pro476Ser)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113602	GACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACA
398123478	99225	NM_000543.4(SMPD1):c.1624C>T (p.Arg542Ter)	SMPD1	Aug 30, 2012	MedGen:C0268243,OMIM:607616,Orphanet:ORPHA77293,SNOMED CT:39390005	Niemann-Pick disease, type B	germline	11	6394335	ATACCGCACTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGCCCAACACACTGC
749995448	187134	NM_021956.4(GRIK2):c.592C>T (p.Arg198Ter)	GRIK2	Mar 01, 2015	MedGen:C1970198,OMIM:611092	Mental retardation, autosomal recessive 6	germline	6	101676673	CTCATCAAAGCTCCATCAAGGTATAATCTTCGACTCAAAATTCGTCAGTTACCTGCTGATA
121913003	31865	NM_001927.3(DES):c.1216C>T (p.Arg406Trp)	DES	Feb 10, 2017	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;MedGen:CN517202	Myofibrillar myopathy 1;not provided	germline;unknown	2	219421532	ATGGCCCTGGATGTGGAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGCCGGT
397514744	75288	NM_022114.3(PRDM16):c.872C>T (p.Pro291Leu)	PRDM16	Jul 11, 2013	MedGen:CN178850	Dilated cardiomyopathy 1LL	germline	1	3402986	ACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAGGTGCCACGCCCTCCTCTG
121912561	23621	NM_004999.3(MYO6):c.2545C>T (p.Arg849Ter)	MYO6	Apr 15, 2008	MedGen:C1853441,OMIM:606346	Deafness, autosomal dominant 22	germline	6	75886881	GGTCTGGTTAAGGTGGGCACACTGAAAAAACGACTTGATAAATTTAATGAGGTAGTCAGTG
121434489	23120	NM_000430.3(PAFAH1B1):c.22C>T (p.Arg8Ter)	PAFAH1B1	Mar 31, 2014	MedGen:C1843916,OMIM:607432;MedGen:C1848201,Orphanet:ORPHA99796	Lissencephaly 1;Subcortical band heterotopia	germline;unknown	17	2638310	ACAGCCAAGATGGTGCTGTCCCAGAGACAACGAGATGAACTGTAAGTTTCTTTGTTTTGTG
397515509	76428	m.4025C>T	MT-ND1	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	4025	ACATTATTATAATAAACACCCTCACCACTACAATCTTCCTAGGAACAACATATGACGCACT
28937907	19148	NM_138694.3(PKHD1):c.4991C>T (p.Ser1664Phe)	PKHD1	Mar 01, 2002	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52024819	AGGCCTTTACCCCAGAATTGATCTCTATTTCTCAGAGCGATGACATCTTAACCTTTGCAGT
193922185	44706	NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)	FBN1	Sep 19, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202;MedGen:CN169374	Marfan syndrome;not provided;not specified	germline	15	48505037	TTCCCTGGACTGGCTGTGGGTCTGGATGGCCGTGTGTGTGTTGGTAAGAAAACATCATGGC
587777621	153714	NM_001759.3(CCND2):c.841C>T (p.Pro281Ser)	CCND2	Aug 08, 2016	MedGen:C4014742,OMIM:615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	germline	12	4299980	TCGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGTGAG
748394238	264085	NM_201548.4(CERKL):c.1012C>T (p.Arg338Ter)	CERKL	Mar 21, 2016	MedGen:CN517202	not provided	germline	2	181548741	GGAAGAACTTTGGCTCTGGCAGAAAAATATCGATGGATGTCCCCTAACCAACGGAGAGATT
121909131	22630	NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu)	CLCNKB	Oct 01, 1997	MedGen:C1846343,OMIM:607364,Orphanet:ORPHA93605	Bartter syndrome type 3	germline	1	16047917	CTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGT
1135402755	424954	NM_173543.2(DZIP1L):c.463C>T (p.Gln155Ter)	DZIP1L	Aug 07, 2017	MedGen:CN381221,OMIM:617610	POLYCYSTIC KIDNEY DISEASE 5	germline	3	138103509	CGGCGTCGCAAGATGATCAGCACCCTGCAGCAGCTGCTAATGCAGACAGGCACCCACAGCT
-1	444496	NM_003995.3(NPR2):c.2761C>T (p.Arg921Ter)	NPR2	Jul 20, 2017	MedGen:CN517202	not provided	germline	9	35808557	GCTTACATGGTGGTATCTGGCCTCCCAGGCCGAAATGGTCAACGCCATGCACCAGAAATTG
756908183	186682	NM_000128.3(F11):c.400C>T (p.Gln134Ter)	F11	Jun 26, 2016	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	germline;unknown	4	186274190	AACTATAACAGCTCAGTTGCCAAGAGTGCTCAAGAATGCCAAGAAAGATGCACGGATGACG
80359247	67579	NM_000059.3(BRCA2):c.9883C>T (p.Gln3295Ter)	BRCA2	Nov 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	germline	13	32398396	CCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTG
-1	444733	NM_001197104.1(KMT2A):c.7438C>T (p.Arg2480Ter)	KMT2A	Jul 12, 2017	MedGen:CN517202	not provided	germline	11	118503330	GAGGTTTTGACTCCTGAGTATATGGGCCAACGACCATGTAACAATGTTTCTTCTGATAAGA
137852472	25371	NM_000132.3(F8):c.6956C>T (p.Pro2319Leu)	F8	Oct 01, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154837697	TCACACCTGTGGTGAACTCTCTAGACCCACCGTTACTGACTCGCTACCTTCGAATTCACCC
1057518216	360346	NM_000346.3(SOX9):c.1180C>T (p.Arg394Ter)	SOX9	Jun 29, 2017	MedGen:C1861922,OMIM:114290,Orphanet:ORPHA140,SNOMED CT:74928006;MedGen:CN517202	Camptomelic dysplasia;not provided	germline	17	72124037	ACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCC
397514623	48455	NM_015295.2(SMCHD1):c.2068C>T (p.Pro690Ser)	SMCHD1	Dec 18, 2012	Gene:2490,MedGen:C1834671,OMIM:158901	Facioscapulohumeral muscular dystrophy 2	germline	18	2707567	ACATTAATATGCTGGTTTCATAACAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAG
398124561	102456	NM_000056.4(BCKDHB):c.1016C>T (p.Ser339Leu)	BCKDHB	Apr 22, 2015	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	6	80273199	ACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTA
-1	453998	NM_000038.5(APC):c.5341C>T (p.Gln1781Ter)	APC	May 11, 2017	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112840935	AAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAA
-1	482207	NM_175914.4(HNF4A):c.514C>T (p.Gln172Ter)	HNF4A	Jun 05, 2017	MedGen:CN517202	not provided	germline	20	44414594	ATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGT
-1	451498	NM_000179.2(MSH6):c.1423C>T (p.Gln475Ter)	MSH6	Jul 14, 2017	MedGen:C0009405,Orphanet:ORPHA443090	Hereditary nonpolyposis colon cancer	germline	2	47799406	GCATTTGGCCGTTATTCAGATTCCCTGGTGCAGAAGGGCTATAAAGTAGCACGAGTGGAAC
72559722	186816	NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter)	ABCC8	Jun 24, 2016	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005;MedGen:CN517202	Persistent hyperinsulinemic hypoglycemia of infancy;not provided	germline;unknown	11	17412716	GGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGC
796052335	203268	NM_001042432.1(CLN3):c.949C>T (p.Gln317Ter)	CLN3	Apr 18, 2014	MedGen:CN517202	not provided	germline	16	28482340	TTTTTCTGGAACACTTCCCTGAGTCACGCTCAGCAATACCGCTGGTAAGAGGAGCGAGGGC
9924755	426928	NM_001171.5(ABCC6):c.2490C>T (p.Ala830=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16177552	TGATTGGATCATAGTGCTGGCAAATGGGGCCATCGCAGAGATGGGTTCCTACCAGGAGCTT
773446161	362131	NM_000520.5(HEXA):c.316C>T (p.Gln106Ter)	HEXA	Jun 17, 2014	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72356555	GTTGTCTCTGTAGTCACACCTGGATGTAACCAGCTTCCTACTTTGGAGTCAGTGGAGAATT
769455	32890	NM_000041.3(APOE):c.487C>T (p.Arg163Cys)	APOE	Nov 01, 1992	MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005;MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005	Familial type 3 hyperlipoproteinemia;Familial type 3 hyperlipoproteinemia	germline	19	44908783	GTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACC
-1	426477	NM_006306.3(SMC1A):c.2272C>T (p.Arg758Ter)	SMC1A	Jun 01, 2017	MedGen:CN517202	not provided	germline	X	53403818	ATTAATGATATCAAGAGGATCATTCAGAGCCGAGAGAGGGAAATGAAAGACTTGAAGGAGA
113905529	51543	NM_000138.4(FBN1):c.493C>T (p.Arg165Ter)	FBN1	Feb 13, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48596328	CTCAATGGAGGAAGGTGTGTGGCCCCAAATCGATGTGCATGCACTTACGGATTTACTGGAC
863224650	420474	NM_000264.4(PTCH1):c.1804C>T (p.Arg602Ter)	PTCH1	Jan 28, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	9	95469856	TTTCCTGCAATTCTCAGCATGGATTTATATCGACGCGAGGACAGGAGACTGGATATTTTCT
80356519	21435	NM_001457.3(FLNB):c.2452C>T (p.Arg818Ter)	FLNB	Oct 09, 2008	MedGen:C1848934,OMIM:272460,Orphanet:ORPHA3275	Spondylocarpotarsal synostosis syndrome	germline	3	58110138	ACAGTCAAATATGTGCCTCCTGCTGCTGGGCGATACACTATCAAAGTTCTCTTTGCATCTC
104893755	28642	NM_001122757.2(POU1F1):c.889C>T (p.Arg297Trp)	POU1F1	Aug 01, 2005	MedGen:C2751608,OMIM:613038	Pituitary hormone deficiency, combined 1	germline	3	87259959	TGGTTTTGCAACCGGAGGCAGAGAGAAAAACGGGTGAAAACAAGTCTGAATCAGAGTTTAT
137852623	24478	NM_000023.3(SGCA):c.850C>T (p.Arg284Cys)	SGCA	Mar 16, 2017	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2D;not provided	germline;unknown	17	50170245	TTCTTCTGCCCACCCACTGAGGCCCCAGACCGTGACTTCTTGGTGGATGCTCTGGTCACCC
-1	424467	NM_172079.2(CAMK2B):c.416C>T (p.Pro139Leu)	CAMK2B	Dec 08, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:CN679648,OMIM:617799	Intellectual disability;MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	de novo;germline	7	44243526	GCACCCTTGTGCCGGTCACCTCCCTGCAGCCGGAGAACCTGCTTCTGGCCAGCAAGTGCAA
121908924	21694	NM_005677.3(COLQ):c.943C>T (p.Arg315Ter)	COLQ	Nov 04, 2016	MedGen:C1864233,OMIM:603034,Orphanet:ORPHA98915;MedGen:CN517202	Endplate acetylcholinesterase deficiency;not provided	germline	3	15458197	GGGGAATCTGTGTATGGGCCCAGTTCCCCGCGAGTTCCTGTGGTAAGGCTTTCTGGGAGAA
387906512	27251	NM_000490.4(AVP):c.56C>T (p.Ala19Val)	AVP	Feb 01, 1998	Human Phenotype Ontology:HP:0000863,MedGen:C0687720,OMIM:125700,Orphanet:ORPHA178029,SNOMED CT:45369008	Neurohypophyseal diabetes insipidus	germline	20	3084619	GCTTCCTCGGCCTACTGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCCCGAGGGGCGG
781252161	214172	NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter)	CC2D2A	Jun 14, 2016	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C2676788,OMIM:612285;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005	Joubert syndrome;Joubert syndrome 9;Meckel-Gruber syndrome	germline;unknown	4	15533284	ATAAAAGTTTGGAAAGAGATGAAATCCCTTCGAGAGTTCCAGAGATTTACAAATACTCCCT
121913612	29196	NM_005373.2(MPL):c.1904C>T (p.Pro635Leu)	MPL	Jun 01, 2008	MedGen:C1327915,OMIM:604498,Orphanet:ORPHA3319	Congenital amegakaryocytic thrombocytopenia	germline	1	43352768	CCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCC
121912852	32498	NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter)	COL7A1	Oct 21, 2016	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;MedGen:CN517202	Recessive dystrophic epidermolysis bullosa;not provided	germline	3	48570304	GGAGACCCTGGAGTAGGGCTGCCTGGGCCCCGAGGCGAGCGTGGGGAGCCAGGCATCCGGG
886039343	259846	NM_004415.3(DSP):c.268C>T (p.Gln90Ter)	DSP	May 01, 2017	MedGen:C1843896,OMIM:607450;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided	germline	6	7555815	GACTGCTTGATGCGAGCAGAGCTCATCGTGCAGCCTGTAAGCTTTCCCTGTTCCCATCGCT
794727511	193635	NM_016180.4(SLC45A2):c.856C>T (p.Gln286Ter)	SLC45A2	Jan 22, 2015	MedGen:C1847836,OMIM:606574,Orphanet:ORPHA79435	Oculocutaneous albinism type 4	germline	5	33963723	AATGGTTACGTAAATCCAGAGCTGGCAATGCAGGGAGCAAAAAACAAAAATCATGCTGAAC
-1	483201	NM_000465.3(BARD1):c.2143C>T (p.Gln715Ter)	BARD1	Jul 05, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214728867	AGAAAGCCCAAGCCAGACAGTGACGTGACTCAGACCATCAATACAGTCGCATACCATGCGA
794726870	190189	NM_138395.3(MARS2):c.424C>T (p.Arg142Trp)	MARS2	Jun 01, 2015	MedGen:C4225329,OMIM:616430,Orphanet:ORPHA447954	Combined oxidative phosphorylation deficiency 25	germline	2	197705829	TGCACAGATTTCATCCGCACCACGGAGGCCCGGCACCGGGTGGCTGTGCAGCACTTCTGGG
587781682	151069	NM_000143.3(FH):c.697C>T (p.Arg233Cys)	FH	Aug 14, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Fumarase deficiency;Hereditary cancer-predisposing syndrome;Multiple cutaneous leiomyomas;not provided	germline	1	241508644	AAAGAGTTTGCACAGATCATCAAGATTGGACGTACTCATACTCAGGATGCTGTTCCACTTA
28940895	18131	NM_000487.5(ARSA):c.1229C>T (p.Thr410Ile)	ARSA	Jul 01, 2001	MedGen:C0751279,Orphanet:ORPHA309271,SNOMED CT:24326000	Metachromatic leukodystrophy, adult type	germline	22	50625446	CCCCCTCCCCAGGCTCTGCCCACAGTGATACCACTGCAGACCCTGCCTGCCACGCCTCCAG
118192224	34613	NM_172107.3(KCNQ2):c.1288C>T (p.Pro430Ser)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63419632	CCGTGCAGAGGGCCCCTGTGTGGATGCTGCCCCGGACGCTCTAGGTACCGCGGAACACGCC
80356947	70087	NM_007294.3(BRCA1):c.514C>T (p.Gln172Ter)	BRCA1	Jul 21, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43099808	GTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAAT
397514364	36351	NM_000060.4(BTD):c.485C>T (p.Ala162Val)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644341	TCTAGGTGCTCCAGCGCCTGAGTTGTATGGCCATCAGGGGAGATATGTTCTTGGTGGCCAA
121918670	27726	NM_000549.4(TSHB):c.205C>T (p.Gln69Ter)	TSHB	Sep 01, 2001	MedGen:C0271789,OMIM:275100,Orphanet:ORPHA90674,SNOMED CT:82598004	Secondary hypothyroidism	germline	1	115034015	AAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTTCATCT
794728416	197373	NM_000238.3(KCNH2):c.31C>T (p.Gln11Ter)	KCNH2	Feb 15, 2012	MedGen:CN517202	not provided	germline	7	150977883	ATGCCGGTGCGGAGGGGCCACGTCGCGCCGCAGAACACCTTCCTGGACACCATCATCCGCA
199473161	78626	NM_198056.2(SCN5A):c.2440C>T (p.Arg814Trp)	SCN5A	Jul 06, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN230736;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Brugada syndrome;Cardiovascular phenotype;Primary dilated cardiomyopathy;not provided	germline	3	38586038	GGTCCCCTCCTCTTCCTCCTTCCCCAGCTGCGGGTCTTCAAGCTGGCCAAATCATGGCCCA
879255031	246345	NM_000527.4(LDLR):c.1813C>T (p.Leu605=)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11116966	CGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTG
199422227	25525	NM_000202.7(IDS):c.1327C>T (p.Arg443Ter)	IDS	Dec 13, 2012	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline;maternal	X	149483072	AGAGAAGGCAAGAACCTTCTGAAGCATTTTCGATTCCGTGACTTGGAAGAGGATCCGTACC
-1	481838	NM_003165.3(STXBP1):c.1075C>T (p.Gln359Ter)	STXBP1	Jun 27, 2017	MedGen:CN517202	not provided	germline	9	127673226	CACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGG
145119918	259934	NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)	MMP21	Mar 08, 2016	MedGen:CN517202	not provided	germline	10	125767570	CCAAGTCCCCTAGACACGGCGTTTTATGACCGAAGACAGAAGTTAATTTACTTCTTCAAGG
148617572	186706	NM_138694.3(PKHD1):c.10444C>T (p.Arg3482Cys)	PKHD1	Aug 05, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	51659682	TGCTTCATGGATCAAACTCCTCAAGTTTTGCGCTTTTTTCTATTGGGGAACAAAAGTACCT
192732174	98814	NM_000404.3(GLB1):c.442C>T (p.Arg148Cys)	GLB1	Jul 08, 2013	MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002;MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	germline	3	33068245	TGGCTGCTAGAGAAAGAGTCTATTCTTCTCCGCTCCTCCGACCCAGGTAGGTTGTTACAGA
187930476	406825	NM_005670.3(EPM2A):c.163C>T (p.Gln55Ter)	EPM2A	Jun 29, 2015	MedGen:CN517202	not provided	germline	6	145735336	ACCGCGGCGGGCGACGGGGCCCTGGCCCTGCAGGAGCCGGGCCTGTGGCTCGGGGAGGTGG
267606939	33498	NM_024411.4(PDYN):c.643C>T (p.Arg215Cys)	PDYN	Nov 12, 2010	MedGen:C1853250,OMIM:610245,Orphanet:ORPHA101108	Spinocerebellar ataxia 23	germline	20	1980445	AAACGCTATGGGGGCTTCTTGCGGCGCATTCGTCCCAAGCTCAAGTGGGACAACCAGAAGC
-1	455058	NM_002890.2(RASA1):c.2707C>T (p.Arg903Ter)	RASA1	May 09, 2017	MedGen:C1842180,OMIM:608354,Orphanet:ORPHA137667	Capillary malformation-arteriovenous malformation	germline	5	87383729	TCCCTCCCATTCAGTGGTTTTGTTTTTCTTCGACTCATCTGTCCTGCCATCCTGAATCCAC
-1	431323	NM_012160.4(FBXL4):c.316C>T (p.Gln106Ter)	FBXL4	Nov 16, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98926673	GTGTTTCGAACTTATGGGACATGGTGGGATCAGTGTCCTAGTGCTTCCTTGCCATTCAAGA
111033848	36448	NM_000155.3(GALT):c.25C>T (p.Gln9Ter)	GALT	Jun 28, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	unknown	9	34646729	GGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACG
121913015	31838	NM_000281.3(PCBD1):c.292C>T (p.Gln98Ter)	PCBD1	Oct 01, 2014	MedGen:C1849700,OMIM:264070,Orphanet:ORPHA1578	Hyperphenylalaninemia, BH4-deficient, D	germline	10	70883973	CGGGACATAAACCTGGCCAGCTTCATCGAACAAGTAGCAGTGTCCATGACATAGACCCTGC
587782750	152540	NM_004360.4(CDH1):c.1921C>T (p.Gln641Ter)	CDH1	Oct 06, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68822210	ACACACGGGGCGAGTGCCAACTGGACCATTCAGTACAACGACCCAAGTGGGTACCTGAGTT
555811074	440115	NM_052844.3(WDR34):c.544C>T (p.Arg182Trp)	WDR34	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	9	128636919	ACTGGCTCTGTGGTGGCCTGTGCCTACGGCCGGTGAGTGGCAGCGGGGCAGGTGAGGGGCA
1060499834	390701	NM_000348.3(SRD5A2):c.211C>T (p.Gln71Ter)	SRD5A2	Oct 30, 2015	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	paternal	2	31580690	TTCGCGGTGCCCGCGGGGATCCTCGCCCGGCAGCCCCTCTCCCTCTTCGGGCCACCTGGGA
151340616	27174	NM_000387.5(SLC25A20):c.496C>T (p.Arg166Ter)	SLC25A20	May 01, 1999	MedGen:C0342791,OMIM:212138,Orphanet:ORPHA159,SNOMED CT:238003000	Carnitine acylcarnitine translocase deficiency	germline	3	48862581	GCAAAGAAGCTGTACCAGGAGTTTGGGATCCGAGGCATCTACAAAGGGACTGTGCTTACCC
773729410	194345	NM_001128227.2(GNE):c.829C>T (p.Arg277Trp)	GNE	May 19, 2016	MedGen:C1833373,OMIM:600737;MedGen:C0342853,OMIM:269921,Orphanet:ORPHA3166,SNOMED CT:238051008	Inclusion body myopathy 2;Sialuria	germline	9	36236865	ACATTGGATGCACTTATCTCATTTAACAAGCGGACCCTAGTCCTGTTTCCAAATATTGACG
28942071	18945	NM_000520.5(HEXA):c.1510C>T (p.Arg504Cys)	HEXA	Apr 18, 2014	MedGen:CN068774;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Gm2-gangliosidosis, chronic;Tay-Sachs disease	germline;unknown	15	72345462	ACATTTGCCTATGAACGTTTGTCACACTTCCGCTGTGAATTGCTGAGGTAAGCAAGCTGTG
63750909	94668	NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter)	MSH6	Jun 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1833477,OMIM:614350;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided	germline;unknown	2	47799427	TCCCTGGTGCAGAAGGGCTATAAAGTAGCACGAGTGGAACAGACTGAGACTCCAGAAATGA
119103271	17292	NM_000265.5(NCF1):c.271C>T (p.Gln91Ter)	NCF1	Dec 01, 2006	MedGen:C1856251,OMIM:233700	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1	germline	7	74779298	TTTGACGGGCAGCGGGCCGCCGAGAACCGCCAGGGCACACTTACCGAGTACTGCAGCACGC
587782446	152126	NM_024675.3(PALB2):c.1258C>T (p.Gln420Ter)	PALB2	May 11, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009	Familial cancer of breast;Hereditary cancer-predisposing syndrome	germline	16	23635288	GTTAGAACAACACGAAGCATGTCCAATTGCCAGAGGAAAGTAGCCGTGGAGGCTGTCATTC
267607158	27696	NM_001256850.1(TTN):c.12157C>T (p.Gln4053Ter)	TTN	Feb 22, 2002	MedGen:C1858763,OMIM:604145	Dilated cardiomyopathy 1G	germline	2	178740125	AAAAGAGAGCCCGTGGCAATAAAGAAAGTGCAGGAGGTACAGGGAAGGGACCTTCTTTCTA
398122965	96871	NM_001199107.1(TBC1D24):c.724C>T (p.Arg242Cys)	TBC1D24	Jan 01, 2018	MedGen:C1857345,OMIM:220500;MedGen:C3809173,OMIM:615338,Orphanet:ORPHA352596;MedGen:CN517202	Digitorenocerebral syndrome;Early infantile epileptic encephalopathy 16;not provided	germline	16	2496872	TTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCC
121909138	22629	NM_004070.3(CLCNKA):c.778C>T (p.Gln260Ter)	CLCNKA	Mar 01, 2008	MedGen:C2751312,OMIM:613090	Bartter syndrome, type 4b	germline	1	16027432	TTCCGGCTCCTGGCAGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTG
886042000	264380	NM_006766.4(KAT6A):c.3505C>T (p.Arg1169Ter)	KAT6A	Oct 23, 2017	MedGen:C4225396,OMIM:616268,Orphanet:ORPHA457193;MedGen:CN517202	Mental retardation, autosomal dominant 32;not provided	germline;paternal	8	41934715	AAACCAATCCACTGGAAGAAAAGACCTGGTCGAAAACCAGGATTTAAGTTGAGTCGGGAAA
104894192	20053	NM_021926.3(ALX4):c.736C>T (p.Gln246Ter)	ALX4	Jan 01, 2001	MedGen:C1865044,OMIM:609597	Parietal foramina 2	germline	11	44275389	ACCCACTACCCAGACGTGTATGCGCGGGAACAGCTGGCCATGAGGACAGACCTCACTGAGG
45465195	58402	NM_000548.4(TSC2):c.3094C>T (p.Arg1032Ter)	TSC2	May 25, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2079159	CTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCC
121909153	22822	NM_000288.3(PEX7):c.694C>T (p.Arg232Ter)	PEX7	Mar 03, 2016	MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789;MedGen:CN517202	Rhizomelic chondrodysplasia punctata type 1;not provided	germline;unknown	6	136869950	AGTTTGAGAGGCTGGGACTTAAGGAATGTACGACAACCAGTGTTTGAACTTCTTGGTCATA
886041718	265033	NM_020717.3(SHROOM4):c.3739C>T (p.Gln1247Ter)	SHROOM4	Apr 21, 2016	MedGen:CN517202	not provided	germline	X	50607403	GGCATTGGTGGGCTTTGGAGGACATCGGGACAGGAAGCCACTGAATCCGCCAAGTAAGTAC
121912845	32490	NM_000094.3(COL7A1):c.5096C>T (p.Pro1699Leu)	COL7A1	Dec 01, 2002	MedGen:C4015945	Epidermolysis bullosa, pretibial, autosomal recessive	germline	3	48580301	CATCTGGACCCAAGGGTGACCGTGGGGAGCCGGTGAGTAGGGCTGGTGTCCTGGGCTCAGA
878853123	237482	NM_001567.3(INPPL1):c.2071C>T (p.Arg691Trp)	INPPL1	Jan 08, 2013	MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:254068007	Opsismodysplasia	inherited	11	72233471	GTCCGGACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGAAACTC
-1	433018	NM_022650.2(RASA1):c.1003C>T (p.Arg335Ter)	RASA1	Sep 16, 2016	MedGen:CN169374	not specified	germline	5	87363428	GCCCAACTTATTTATTTTGAAAGCGAAAAACGAGCTACCAAACCAAAAGGATTAATAGATC
111033725	36548	NM_000155.3(GALT):c.556C>T (p.His186Tyr)	GALT	Jan 27, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN517202	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided	germline	9	34648163	GCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAG
-1	446680	NM_000377.2(WAS):c.961C>T (p.Arg321Ter)	WAS	Aug 21, 2017	MedGen:CN517202	not provided	germline	X	48688689	GAGCCACTTCCGCCGCCCCCACCGCCATCTCGAGGAGGGAACCAGCTCCCCCGGCCCCCTA
267606955	33463	NM_016341.3(PLCE1):c.3736C>T (p.Arg1246Ter)	PLCE1	Jul 01, 2010	MedGen:C1853124,OMIM:610725	Nephrotic syndrome, type 3	germline	10	94259072	CTGTTTGATGTCTATGCAGTGCCCTGCAACCGATCTGGCTCCGAGTCAGCCCCACTCTACA
398123942	100497	NM_004006.2(DMD):c.3580C>T (p.Gln1194Ter)	DMD	May 06, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32454685	GATTTTGAATATAAAACTCCAGATGAATTACAGAAAGCAGTTGAAGAGATGAAGGTAAAAA
113994102	20340	NM_004715.4(CTDP1):c.863+389C>T	CTDP1	Mar 16, 2015	MedGen:C1858726,OMIM:604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	germline	18	79710825	CTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCCGGCCTAGAGCAGTA
121964986	27019	NM_000481.3(AMT):c.574C>T (p.Gln192Ter)	AMT	Jun 01, 2000	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49419382	GGCCCAGGCCCCACTGCAGCCCAGGTACTACAGGCCGGCGTGGCAGATGACCTGAGGAAAC
397507447	47625	NM_024312.4(GNPTAB):c.1123C>T (p.Arg375Ter)	GNPTAB	Jun 15, 2017	MedGen:CN239375;MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	GNPTAB-Related Disorders;I cell disease	germline	12	101770182	TTTGTTTGTTGTTGTTAAAAGGATGTTTTTCGAAATTTGAGCCACTTGCCTACCTTTAGTT
875989786	227705	NM_205768.2(ZBTB18):c.1183C>T (p.Gln395Ter)	ZBTB18	Oct 04, 2017	MeSH:D030342,MedGen:C0950123;Gene:100190984,MedGen:C2676727,OMIM:612337	Inborn genetic diseases;Mental retardation, autosomal dominant 22	de novo;germline	1	244054957	AACAAGGTCTTCCCCAGCCCCCACATCCTGCAGATCCACCTGAGCACGCACTTCCGCGAGC
371642222	431970	NM_014141.5(CNTNAP2):c.3046C>T (p.Arg1016Ter)	CNTNAP2	Sep 07, 2017	MedGen:C2750246	Pitt-Hopkins-like syndrome 1	germline	7	148217323	GGTGCATTTTTTGAAGAAGGGATGTGGCTACGATATAACTTTCAGGCACCAGCAACAAATG
267606854	16862	NM_013296.4(GPSM2):c.379C>T (p.Arg127Ter)	GPSM2	Jun 04, 2016	MedGen:CN206424,Orphanet:ORPHA90636;MedGen:C1858695,OMIM:604213,Orphanet:ORPHA314597	Autosomal recessive non-syndromic sensorineural deafness type DFNB;Chudley-McCullough syndrome	germline	1	108897592	AATTTTGACGAAGCCATAGTTTGTTGTCAGCGACACCTAGATATTTCCAGAGAGCTTAATG
1057524017	368344	NM_004100.4(EYA4):c.1537C>T (p.Gln513Ter)	EYA4	Dec 13, 2016	MedGen:CN517202	not provided	germline	6	133515356	CTTGGCCCTGCCAAGAGGGATGCCTGGCTACAGTTAAGGGCAGAGATTGAAGGTCTGACAG
74315414	28454	NM_000311.4(PRNP):c.313C>T (p.Pro105Ser)	PRNP	Dec 18, 2008	MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C0017495,OMIM:137440,Orphanet:ORPHA356,SNOMED CT:67155006	Genetic prion diseases;Gerstmann-Straussler-Scheinker syndrome	germline	20	4699533	ACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTG
-1	485734	NM_001204399.1(PITX2):c.148C>T (p.Gln50Ter)	PITX2	Jan 02, 2018	Human Phenotype Ontology:HP:0000558,MedGen:C0265341,SNOMED CT:47507006	Rieger syndrome	germline	4	110621268	AGGCGGCAGCGGACTCACTTTACCAGCCAGCAGCTCCAGGAGCTGGAGGCCACTTTCCAGA
61749715	26880	NM_004992.3(MECP2):c.674C>T (p.Pro225Leu)	MECP2	Apr 26, 2016	MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Mental retardation, X-linked, syndromic 13;Rett syndrome	germline;unknown	X	154031154	AAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGA
746235533	233887	NM_000051.3(ATM):c.67C>T (p.Arg23Ter)	ATM	Oct 19, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108227691	CGTCAACTAGAACATGATAGAGCTACAGAACGAAAGGTAGTAAATTACTTAAATTCAATTT
-1	480767	NM_006180.4(NTRK2):c.2159C>T (p.Thr720Ile)	NTRK2	Jan 22, 2018	MedGen:C3151303,OMIM:613886	Obesity, hyperphagia, and developmental delay	germline	9	84955504	ACTTTGGGATGTCCCGGGACGTGTACAGCACTGACTACTACAGGGTGAGTAGCTGTGCAGA
119103245	17369	NM_033071.3(SYNE1):c.22156C>T (p.Gln7386Ter)	SYNE1	Jul 01, 2007	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644	Spinocerebellar ataxia, autosomal recessive 8	germline	6	152213737	TCTTTCAGCAAGTTGCAGTCATTTTTGCTACAACATCAGACTTTCTTGGAAAAATGTGAAA
111033739	36560	NM_001258332.1(GALT):c.274C>T (p.Arg92Cys)	GALT	Feb 14, 2017	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN169374	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified	germline	9	34648370	GCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGA
121912508	29467	NM_000238.3(KCNH2):c.1744C>T (p.Arg582Cys)	KCNH2	Jul 31, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 2;not provided	germline	7	150951649	GGCAACATGGAGCAGCCACACATGGACTCACGCATCGGCTGGCTGCACAACCTGGGCGACC
587784338	169781	NM_003560.3(PLA2G6):c.1754C>T (p.Thr585Ile)	PLA2G6	Feb 08, 2013	Human Phenotype Ontology:HP:0012675,MedGen:C4021076	Iron accumulation in brain	germline	22	38116200	CTGCCTCATTTCTCTCCAGGGTGATGCTGACAGGGACACTGTCTGACCGGCAGCCGGCTGA
886041581	265172	NM_005120.2(MED12):c.5125C>T (p.Arg1709Ter)	MED12	Feb 26, 2016	MedGen:CN517202	not provided	germline	X	71136380	CCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGG
972579811	359220	NM_002016.1(FLG):c.5230C>T (p.Gln1744Ter)	FLG	Oct 13, 2016	MedGen:CN517202	not provided	germline	1	152309656	GTGTCAGCCCACGGACAGGCTGGGCCCCATCAGCAGAGCCACCAAGAGTCCACACGTGGCC
886044718	141316	NM_005676.4(RBM10):c.448C>T (p.Gln150Ter)	RBM10	Jan 01, 2014	MedGen:C1839463,OMIM:311900,Orphanet:ORPHA2886	TARP syndrome	germline	X	47173143	TATCTCCCCGTATAGATCCGTGGCCAGCTGCAGTCGCACGGCGTGCAAGCACGGGAGGTTC
766209297	198430	NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp)	PKP2	Jun 18, 2015	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;not provided	germline	12	32868935	CAGCACGAGTGCTTCCAGAAATCTGAAGCTCGGAAGAGGGTGAGTGTCATCTTCAGTCCAT
137852452	25339	NM_000132.3(F8):c.5953C>T (p.Arg1985Ter)	F8	Apr 01, 1994	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154903951	ATTCATTTCAGTGGACATGTGTTCACTGTACGAAAAAAAGAGGAGTATAAAATGGCACTGT
797045873	208822	NM_001184880.1(PCDH19):c.490C>T (p.Gln164Ter)	PCDH19	May 20, 2014	MedGen:C1848137,OMIM:300088,Orphanet:ORPHA101039	Early infantile epileptic encephalopathy 9	germline	X	100408108	TACGATCCAGACTCAGGAAGCTTTGGCGTGCAGACTTACGAGCTCACGCCCAACGAGCTGT
111033688	45908	NM_000155.3(GALT):c.394C>T (p.His132Tyr)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647848	CCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCA
398124247	101367	NM_007171.3(POMT1):c.793C>T (p.Arg265Ter)	POMT1	Mar 27, 2017	MedGen:CN033898,OMIM:236670;MedGen:CN517202	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;not provided	germline	9	131510287	CAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCG
1057520589	375155	NM_004380.2(CREBBP):c.2659C>T (p.Gln887Ter)	CREBBP	Apr 02, 2015	MedGen:CN517202	not provided	germline	16	3770791	ATGACTCCTCCCCAGCCAGCAGCTCCCACTCAGCCATCAACTCCTGTGTCGTCTTCCGGGC
-1	462028	NM_005055.4(RAPSN):c.370C>T (p.Gln124Ter)	RAPSN	Aug 16, 2016	MedGen:C4225367,OMIM:616326;MedGen:C1276035,OMIM:208150,SNOMED CT:401138005	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I	germline	11	47447973	GGTACCAGGGCAGGTGCCCAGCTCGGAGGCCAGGTCAGCCTGAGCATGGGCAATGCCTTCC
869312842	226611	NM_006734.3(HIVEP2):c.2905C>T (p.Gln969Ter)	HIVEP2	Jul 20, 2015	MedGen:CN517202	not provided	germline	6	142771834	ACAGGCACAGGCCTCTCCCGCAGCCCCAGCCAAGAAAGCAACTTGTCCCACAGCTCCAGTT
1131691733	421682	NM_017780.3(CHD7):c.310C>T (p.Gln104Ter)	CHD7	Sep 24, 2015	MedGen:CN517202	not provided	germline	8	60741742	CCTGGGAACGGACTCGCGTCTCCGCACTCGCAGTATCACACCCCTCCCGTTCCTCAGGTGC
367543031	51255	NM_000057.3(BLM):c.3847C>T (p.Gln1283Ter)	BLM	Feb 06, 2017	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006	Bloom syndrome	germline	15	90809232	AAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGGTT
267606735	21087	NM_004273.4(CHST3):c.422C>T (p.Thr141Met)	CHST3	Apr 01, 2009	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72007453	CCCGGCGCCACGTGCTGCTCATGGCCACCACGCGCACCGGCTCCTCGTTCGTGGGCGAGTT
28942108	18015	NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys)	NPC1	Jun 13, 2016	MedGen:C3179455,OMIM:257220;MedGen:CN517202	Niemann-Pick disease type C1;not provided	germline;unknown	18	23538651	TCTCCGCCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAAGGCAAAC
867410737	446893	NM_001687.4(ATP5F1D):c.245C>T (p.Pro82Leu)	ATP5F1D	Jun 01, 2017	Human Phenotype Ontology:HP:0011925,MedGen:C4020737	Decreased activity of mitochondrial ATP synthase complex	inherited	19	1242559	CCCACGTGCCCACGCTGCAGGTCCTGCGGCCGGGGCTGGTCGTGGTGCATGCAGAGGACGG
780320724	413171	NM_001110219.2(GJB6):c.119C>T (p.Ala40Val)	GJB6	Dec 22, 2016	MedGen:C2675237,OMIM:612643	Deafness, autosomal dominant 3b	germline	13	20223362	TTTTCCGAGTCATGATCCTCGTGGTGGCTGCCCAGGAAGTGTGGGGTGACGAGCAAGAGGA
143492730	226292	NM_212552.2(BOLA3):c.136C>T (p.Arg46Ter)	BOLA3	Dec 22, 2017	MedGen:C3280378,OMIM:614299,Orphanet:ORPHA401874	Multiple mitochondrial dysfunctions syndrome 2	germline	2	74145222	GTGACCCAAATTCTCAAAGAAAAGTTTCCACGAGCTACAGCTATAAAAGTCACTGACATTT
-1	425905	NM_001197104.1(KMT2A):c.3190C>T (p.Arg1064Ter)	KMT2A	Jun 08, 2017	MedGen:CN517202	not provided	germline	11	118476838	CAAGAAAGTGACTCATCAGAGACCTCTGTGCGAGGACCCCGGATTAAACATGTCTGCAGAA
119462981	18278	NM_007171.3(POMT1):c.907C>T (p.Gln303Ter)	POMT1	Nov 01, 2002	MedGen:CN033898,OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	germline	9	131510401	CCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGG
137854453	31762	NM_000501.3(ELN):c.1621C>T (p.Arg541Ter)	ELN	Sep 01, 2017	Human Phenotype Ontology:HP:0004381,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED CT:268185002;MedGen:CN517202	Supravalvar aortic stenosis;not provided	germline	7	74060184	GCTGCCAAGGTGGCTGCCAAAGCCCAGCTCCGTGAGTGCCTCGCCCACCTTTCTCTCCTCT
779803851	259752	NM_001041.3(SI):c.5110C>T (p.Arg1704Ter)	SI	Jun 16, 2016	MedGen:CN517202	not provided	germline	3	164987225	GGGTAAAATTATATATTTCTTTCTTATAGTCGACAAAAACACATGAAGCTCATTGTTGCTG
869312903	226714	NM_001135599.2(TGFB2):c.988C>T (p.Arg330Cys)	TGFB2	Oct 27, 2016	MedGen:C3553762,OMIM:614816;MedGen:CN517202	Loeys-Dietz syndrome 4;not provided	de novo;germline	1	218436119	GAGTCACAACAGACCAACCGGCGGAAGAAGCGTGCTTTGGATGCGGCCTATTGCTTTAGGT
529008617	152318	NM_001128425.1(MUTYH):c.1214C>T (p.Pro405Leu)	MUTYH	Jun 22, 2017	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Carcinoma of colon;Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline;unknown	1	45331529	CAGGTCTGCTGGCAGGACTGTGGGAGTTCCCGTCCGTGACCTGGGAGCCCTCAGAGCAGCT
786201801	182404	NM_000038.5(APC):c.4621C>T (p.Gln1541Ter)	APC	Jul 12, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112840215	AATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGA
587783682	168926	NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter)	KMT2D	Feb 08, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49033415	CAGCAGCAACAGCAGCAGGGTCCTGGAGTACAGACAAACCAAGCTCTGGGTCCCAAGCCCC
587777178	106801	NM_006767.3(LZTR1):c.2062C>T (p.Arg688Cys)	LZTR1	Mar 04, 2014	MedGen:C3810283,OMIM:615670	Schwannomatosis 2	unknown	22	20995865	CGGCCAGCCCACAAGGCTATCCTGGCCGCCCGCTCCAGGTGGGTGGGGGCTGGACAGGAGG
368313959	362591	NM_016023.3(OTUD6B):c.433C>T (p.Arg145Ter)	OTUD6B	Jan 22, 2018	MedGen:CN235126;MedGen:CN243958,OMIM:617452;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C0014544,Orphanet:ORPHA166463;MedGen:CN517202	Dysmorphic features;Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies;Intellectual disability;Seizure Disorders;not provided	germline	8	91078383	TAGGAAAAGAAAGCTGCATTGGAAAAGGAGCGAGAAGAACGGATAGCTGAAGCTGAAATTG
387906606	38593	NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter)	COL5A1	Mar 27, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:CN517202	Ehlers-Danlos syndrome, classic type;not provided	germline	9	134805044	CCTCCAGGATTACGTGGTTTCCCTGGGGACCGAGGGCTTCCTGGTCCAGTGGTGAGTGAGA
104894793	26529	NM_006579.2(EBP):c.523C>T (p.Gln175Ter)	EBP	Oct 02, 2000	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48528287	TACTTCCTGACAGAGCACCGCGACGGATTCCAGCACGGAGAGCTGGGCCACCCTCTCTACT
765432081	421907	NM_000545.6(HNF1A):c.475C>T (p.Arg159Trp)	HNF1A	Sep 29, 2015	MedGen:CN517202	not provided	germline	12	120988981	AACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCCGCCCTGTACACCTGGTACGTCCGCA
878854957	261597	NM_007294.3(BRCA1):c.5161C>T (p.Gln1721Ter)	BRCA1	Dec 20, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43063365	GTCTTTTCTATGATCTCTTTAGGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATG
25403	51465	NM_000138.4(FBN1):c.184C>T (p.Arg62Cys)	FBN1	Jan 14, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48613073	TTTTGTTTTAGACCCAATGTCTGTGGATCACGTTATAATGCTTACTGTTGCCCTGGATGGA
119488099	20477	NM_005097.3(LGI1):c.406C>T (p.Arg136Trp)	LGI1	Jan 12, 2015	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046;MedGen:CN517202	Epilepsy, lateral temporal lobe, autosomal dominant;not provided	germline	10	93777592	AACATCAAGTCAATTTCAAGACATACTTTCCGGGGACTAAAGTCATTAATTCACTTGTAAG
748459670	194664	NM_001844.4(COL2A1):c.3106C>T (p.Arg1036Ter)	COL2A1	Oct 03, 2017	MedGen:C2020284,OMIM:108300;MedGen:CN517202	Stickler syndrome type 1;not provided	germline	12	47978015	GGCCTGACGGGTCCTGCAGGTGAACCTGGACGAGAGGTGAGCAGTGAGACCCCCTGGGGTG
886041037	199915	NM_000417.2(IL2RA):c.301C>T (p.Gln101Ter)	IL2RA	Feb 01, 2007	MedGen:C1853392,OMIM:606367,Orphanet:ORPHA169100	Interleukin 2 receptor, alpha, deficiency of	germline	10	6024310	ACGAAACAAGTGACACCTCAACCTGAAGAACAGAAAGAAAGGAAAACCACAGAAATGCAAA
781939614	446881	NM_003846.2(PEX11B):c.277C>T (p.Arg93Ter)	PEX11B	Jun 26, 2016	MedGen:C3554055,OMIM:614920	Peroxisome biogenesis disorder 14B	de novo	1	145916914	AGATTCTGCATCACTGTTAGTCACCTCAATCGAGCCTTGTACTTCGCCTGTGACAATGTCC
121912951	32167	NM_080680.2(COL11A2):c.3991C>T (p.Arg1331Ter)	COL11A2	Jan 01, 2005	MedGen:C0432210,OMIM:215150,SNOMED CT:254060000	Otospondylomegaepiphyseal dysplasia	germline	6	33167822	GGTCCTGCTGGCTCGCCTGGTTCCGAGGGGCGACAAGGAGGGAAGGGAGCCAAGGTGAGGG
80100937	17889	NM_020184.3(CNNM4):c.1690C>T (p.Gln564Ter)	CNNM4	Feb 01, 2009	MedGen:C1857588,OMIM:217080,Orphanet:ORPHA1021	Cone-rod dystrophy amelogenesis imperfecta	germline	2	96799065	TCTCTTCTCTCTCCTCCTACAGAGGTCTCTCAGTTTAGCCCCTCCCTGATATCAGAGAAGA
62638214	20879	NM_000843.3(GRM6):c.1861C>T (p.Arg621Ter)	GRM6	Mar 29, 2005	MedGen:C1850362,OMIM:257270;MedGen:CN517202	Congenital stationary night blindness, type 1B;not provided	germline	5	178986393	AACAACACGCCCATCGTCCGGGCCTCGGGCCGAGAGCTCAGCTACGTCCTCCTCACCGGCA
-1	471986	NM_005198.4(CHKB):c.400C>T (p.Gln134Ter)	CHKB	Feb 16, 2017	MedGen:C1865233,OMIM:602541,Orphanet:ORPHA280671	Muscular dystrophy, congenital, megaconial type	germline	22	50581796	GCCATACTTGCGGAGCGGTCGCTGGGGCCCCAGCTGTACGGAGTCTTCCCAGAGGGCCGGC
886043792	272277	NM_000263.3(NAGLU):c.694C>T (p.Gln232Ter)	NAGLU	Jun 04, 2016	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	germline	17	42538685	CTTCTGTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGC
104894069	16218	NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser)	CYP11B1	Oct 02, 2015	Human Phenotype Ontology:HP:0008258,MedGen:C0001627,Orphanet:ORPHA418,SNOMED CT:237751000;MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007	Congenital adrenal hyperplasia;Deficiency of steroid 11-beta-monooxygenase	germline	8	142879690	CCCAGGACAGTGCTGCCCTTTGAAGCCATGCCCCGGCGTCCAGGCAACAGGTGGCTGAGGC
121909668	31263	NM_004960.3(FUS):c.1561C>T (p.Arg521Cys)	FUS	Aug 31, 2010	MedGen:C1842675,OMIM:608030	Amyotrophic lateral sclerosis type 6	germline	16	31191418	TTTTTTTGCAGGGGTGAGCACAGACAGGATCGCAGGGAGAGGCCGTATTAATTAGCCTGGC
886039560	260334	NM_005183.3(CACNA1F):c.148C>T (p.Arg50Ter)	CACNA1F	Feb 16, 2016	MedGen:CN517202	not provided	germline	X	49231805	AGTGGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAG
118203955	16239	NM_020381.3(PDSS2):c.964C>T (p.Gln322Ter)	PDSS2	Jun 07, 2016	MedGen:C3553358,OMIM:614652	Coenzyme Q10 deficiency, primary, 3	germline	6	107210483	AATCTAAACTCAGCTCCTGTAGTCTTACATCAGGAATTTCTTGGAAGAGATTTGTGGATTA
1057518410	359539	NM_014159.6(SETD2):c.4774C>T (p.Arg1592Ter)	SETD2	Dec 05, 2016	MedGen:CN517202	not provided	germline	3	47106062	GAGGTACTCGATCATAAAGAGTTTAAAGCTCGAGTGAAGGAGTATGCACGAAACAAAAACA
72552735	21458	NM_003060.3(SLC22A5):c.1433C>T (p.Pro478Leu)	SLC22A5	Dec 04, 2012	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline	5	132392598	CAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTTCGTTTACCTTGGTAAGTCCCATGA
80356544	19665	NM_021830.4(TWNK):c.1370C>T (p.Thr457Ile)	TWNK	Jul 22, 2010	MedGen:C1849096,OMIM:271245,Orphanet:ORPHA1186;MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);Mitochondrial DNA-depletion syndrome 3, hepatocerebral	germline	10	100989770	GCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCA
794727208	192022	NM_007171.3(POMT1):c.1864C>T (p.Arg622Ter)	POMT1	Feb 09, 2015	MedGen:C1836373,OMIM:609308,Orphanet:ORPHA86812;MedGen:CN033898,OMIM:236670	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	germline	9	131521445	CTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTT
397515485	77869	NM_005334.2(HCFC1):c.344C>T (p.Ala115Val)	HCFC1	Sep 05, 2013	MedGen:C0796208,OMIM:309541,Orphanet:ORPHA369962	Mental retardation 3, X-linked	germline	X	153964283	GGTTCAGTCTCCAGGTCTTGATTTTGCAGGCGAGCCGGTGGGAGTGGAAGAGACTCAAAGC
387906964	39603	NM_024513.3(FYCO1):c.2206C>T (p.Gln736Ter)	FYCO1	Jun 10, 2011	MedGen:C1864908,OMIM:610019	Cataract, autosomal recessive congenital 2	germline	3	45967128	CGGCACAGAGAGCTTAGGGCTCTCGAGAGCCAGTGCCAGCAGCAGACCCAGCTGATTGAGG
119477053	19724	NM_033305.2(VPS13A):c.622C>T (p.Arg208Ter)	VPS13A	Nov 01, 2002	MedGen:C0393576,OMIM:200150,Orphanet:ORPHA2388	Choreoacanthocytosis	germline	9	77213240	ACATCTAATAAATTTTATTTTCAGTTAATCCGATTGGATAACCTGTTTGCCTATTGGAATG
886039388	259649	NM_006147.3(IRF6):c.226C>T (p.Pro76Ser)	IRF6	Aug 27, 2015	MedGen:CN517202	not provided	germline	1	209796501	AAGTACCAGGAAGGGGTGGATGACCCTGACCCAGCTAAATGGAAGGCCCAGCTGCGCTGTG
137852996	20001	NM_018136.4(ASPM):c.349C>T (p.Arg117Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197144049	TCTGTTAACTGGACACCACTCAAAGAAGGCCGAGTAAGAGAGATTATGACATTTCTTGTAA
281875333	38554	NM_001101.4(ACTB):c.586C>T (p.Arg196Cys)	ACTB	Apr 03, 2017	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995;MedGen:CN517202	Baraitser-Winter syndrome 1;not provided	germline	7	5528497	ACTGACTACCTCATGAAGATCCTCACCGAGCGCGGCTACAGCTTCACCACCACGGCCGAGC
121912504	29459	NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val)	KCNH2	Jun 30, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 2;not provided	germline	7	150951711	TCTTGCTCATGTGCACCTTTGCGCTCATCGCGCACTGGCTAGCCTGCATCTGGTACGCCAT
104894659	18298	NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)	MC2R	Jul 01, 1994	MedGen:C4049650,OMIM:202200	ACTH resistance	germline	18	13884918	TGCCTCTATGTGCACATGTTCCTGCTGGCTCGATCCCACACCAGGAAGATCTCCACCCTCC
-1	481803	NM_000127.2(EXT1):c.913C>T (p.Gln305Ter)	EXT1	Mar 22, 2017	MedGen:CN517202	not provided	germline	8	118110134	CTCACCACCTGCAAGCATGGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAG
200427211	415785	NM_001193416.2(DDX3X):c.1493C>T (p.Thr498Ile)	DDX3X	May 15, 2017	MedGen:CN517202	not provided	germline	X	41346406	GCTCAGGAAAAAGCCCAATTTTAGTGGCTACAGCAGTATGTATAAACATCTTTCTTTTATT
119103229	16948	NM_000411.6(HLCS):c.1522C>T (p.Arg508Trp)	HLCS	Nov 01, 2001	MedGen:C0268581,OMIM:253270,Orphanet:ORPHA79242	Holocarboxylase synthetase deficiency	germline	21	36765170	ATGTTTCCCACTGTGGCCTGTGTTCCAGGACGGGGAGGGAATGTGTGGCTGAGCCCTGTGG
886041918	264720	NM_015295.2(SMCHD1):c.1030C>T (p.Arg344Ter)	SMCHD1	Aug 12, 2016	MedGen:CN517202	not provided	germline	18	2694683	TACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGTAAGTAATTATATTTGGCT
1057524248	378303	NM_001039590.2(USP9X):c.643C>T (p.Arg215Ter)	USP9X	Jan 04, 2017	MedGen:CN517202	not provided	germline	X	41137011	GATGAACTCTTTGCTCGTTCTCCAGATCCTCGATCACCAAAGGTGTGTTGGTTTGTTATTT
879255584	205713	NM_001830.3(CLCN4):c.2152C>T (p.Arg718Trp)	CLCN4	Mar 22, 2016	MedGen:CN232948	CLCN4-related disorder	de novo	X	10220837	ACTCCGATGGAAACGGTGGTGGATATCTTCCGGAAACTGGGGCTTCGGCAGTGCCTGGTGA
1060499974	398266	NM_130799.2(MEN1):c.1243C>T (p.Arg415Ter)	MEN1	Mar 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1;not provided	germline	11	64805141	CAGGACCCTGAGTGCTTCGCCCACCTGCTGCGATTCTACGACGGCATCTGCAAATGGGAGG
121434410	21385	NM_003690.4(PRKRA):c.665C>T (p.Pro222Leu)	PRKRA	Oct 01, 2014	MedGen:C2677567,OMIM:612067,Orphanet:ORPHA210571	Dystonia 16	germline	2	178436264	GATGTACTTGGCATTCCTTGAGGAATTCTCCTGGTGAAAAGATCAACTTACTGAAAAGAAG
33941377	44951	NM_000518.4(HBB):c.-137C>T	HBB	May 14, 2015	MedGen:C0472767,Orphanet:ORPHA231222,SNOMED CT:191189009;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000	Beta thalassemia intermedia;beta Thalassemia	germline	11	5227158	TCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCA
137854855	132465	NM_000428.2(LTBP2):c.1642C>T (p.Arg548Ter)	LTBP2	-	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	not provided	14	74551108	CGGCCACTGCCCCCAGCAGCACCCAGGCCTCGAGGACTGCTGGGCCGGTGTTACCTGAACA
150974575	173633	NM_001927.3(DES):c.1285C>T (p.Arg429Ter)	DES	Aug 04, 2016	Human Phenotype Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED CT:699269005;MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909	Myofibrillar myopathy;Myofibrillar myopathy 1	germline	2	219423817	CCCATCCAGACCTACTCTGCCCTCAACTTCCGAGGTGAGTGTCTGCTGGCAGGCGGAGGCT
587777146	106547	NM_024790.6(CSPP1):c.652C>T (p.Gln218Ter)	CSPP1	Feb 17, 2014	MedGen:C3810212,OMIM:615636	Joubert syndrome 21	germline	8	67095434	CCTTCAGAGGCATATGAAGAACTTCTGAACCAAAGACGACTAGAGGAGGACAGATACCGAC
141178995	172094	NM_002335.3(LRP5):c.3562C>T (p.Arg1188Trp)	LRP5	Feb 21, 2018	Human Phenotype Ontology:HP:0006557,MedGen:C0158683,OMIM:174050,SNOMED CT:72925005;MedGen:CN818987,OMIM:617875	Congenital cystic disease of liver;POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS	germline	11	68426112	GAGCGTGTGGAGAAGACCACCGGGGACAAGCGGACTCGCATCCAGGGCCGTGTCGCCCACC
397515486	77870	NM_005334.2(HCFC1):c.218C>T (p.Ala73Val)	HCFC1	Dec 23, 2015	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C0796208,OMIM:309541,Orphanet:ORPHA369962;MedGen:CN517202	Intellectual disability;Mental retardation 3, X-linked;not provided	germline;maternal	X	153964702	CCCCAGCAACCAACCAGTGGTTCATCCCAGCCGTGAGGGGGGACATTCCCCCTGGGTGTGC
730881411	179970	NM_000465.3(BARD1):c.448C>T (p.Arg150Ter)	BARD1	Sep 08, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	2	214781426	AAGAATTCAATTAAAATGTGGTTTAGCCCTCGAAGTAAGAAAGTCAGATATGTTGTGAGTA
527236137	152890	NM_206933.2(USH2A):c.13010C>T (p.Thr4337Met)	USH2A	May 14, 2015	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215674901	CCACCTATAGCTATGCACTCCAAGCCTGCACGAGTGGAGGATGCTCCACCAGCAAACCCAC
121909490	22045	NM_002316.3(LMX1B):c.691C>T (p.Arg231Ter)	LMX1B	Nov 29, 2016	MedGen:C0027341,OMIM:161200,SNOMED CT:22199006;MedGen:CN517202	Nail-patella syndrome;not provided	germline	9	126693273	CGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCT
397507395	46684	NM_000059.3(BRCA2):c.7963C>T (p.Gln2655Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32362680	AGATGCCTAAGCCCAGAAAGGGTGCTTCTTCAACTAAAATACAGGCAAGTTTAAAGCATTA
121912553	29876	NM_000883.3(IMPDH1):c.568C>T (p.Arg190Trp)	IMPDH1	Jan 01, 2006	MedGen:C1840284,OMIM:613837	Leber congenital amaurosis 11	germline	7	128400828	TGCACCCCAGAGTTCCAGGCCAACGAGGTGCGGAAGGTCAAGGCAAGTACCAGGCCTGTCC
1135401825	424694	NM_001304815.1(CIC):c.5701C>T (p.Gln1901Ter)	CIC	Aug 02, 2017	MedGen:CN368509,OMIM:617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	germline	19	42292173	AGCCCAGCCACACTCCCTGGACCCACCTCTCAGCCTCAGAAGGTCCTGTTGCCCTCCTCCA
121918609	27987	NM_003035.2(STIL):c.3715C>T (p.Gln1239Ter)	STIL	Sep 01, 2009	MedGen:C2675187,OMIM:612703	Primary autosomal recessive microcephaly 7	germline	1	47251285	AACCTTCGAACCGGGAAAGCAGAGTTCACTCAACATCCTGAGAAAGAAAATGAAGGGGACA
1057519573	362378	NM_032578.3(MYPN):c.3214C>T (p.Arg1072Ter)	MYPN	Feb 08, 2017	MedGen:CN240509,OMIM:617336	Nemaline myopathy 11, autosomal recessive	germline	10	68197407	GACAAAGAGCCCCTACAGGAACGCTTTTTCCGACCACATTTCCTGCAGGCTCCTGGGGATA
80359058	67179	NM_000059.3(BRCA2):c.8140C>T (p.Gln2714Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32363342	TCTAGCAATAAAACTAGTAGTGCAGATACCCAAAAAGTGGCCATTATTGAACTTACAGATG
387906913	39443	NM_014339.6(IL17RA):c.850C>T (p.Gln284Ter)	IL17RA	Apr 01, 2011	MedGen:C3151402,OMIM:613953	Immunodeficiency 51	germline	22	17104729	CCCTTTTCCTGCCCTCTCTGCCCGCAGATCCAGCCCTTCTTCAGCAGCTGCCTCAATGACT
61750074	106210	NM_000552.4(VWF):c.4135C>T (p.Arg1379Cys)	VWF	Dec 08, 2016	MedGen:CN517202	not provided	germline	12	6019283	TTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCACCCTGCTCCTGATGGCCAGCCAGG
587778835	132307	NM_000321.2(RB1):c.2197C>T (p.His733Tyr)	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48463821	ATCATTGTAACAGCATACAAGGATCTTCCTCATGCTGTTCAGGAGGTAGGTAATTTTCCAT
387906818	39169	NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys)	GATA6	Mar 01, 2014	Human Phenotype Ontology:HP:0030680,MedGen:C4049796;Human Phenotype Ontology:HP:0000776,MedGen:C0235833,Orphanet:ORPHA2140;MedGen:C1838780,OMIM:600001	Abnormality of cardiovascular system morphology;Congenital diaphragmatic hernia;Pancreatic agenesis and congenital heart disease	de novo;germline	18	22181516	AACTGTCACACCACAACTACCACCTTATGGCGCAGAAACGCCGAGGGTGAACCCGTGTGCA
121912304	26630	NM_001363.4(DKC1):c.146C>T (p.Thr49Met)	DKC1	Apr 27, 2015	MedGen:C1148551,OMIM:305000;MedGen:CN517202	Dyskeratosis congenita X-linked;not provided	germline	X	154765505	AACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGGTATG
121918278	17224	NM_022370.3(ROBO3):c.2317C>T (p.Gln773Ter)	ROBO3	Mar 01, 2006	MedGen:C1846496,OMIM:607313,Orphanet:ORPHA2744	Gaze palsy, familial horizontal, with progressive scoliosis	germline	11	124875581	CACCCTGGCCCAGCCCCCAGTGGCCCCCCACAGGGAGTGGCGGTGGCCTTGGGGGGTGATG
111033451	53895	NM_004004.5(GJB2):c.19C>T (p.Gln7Ter)	GJB2	Feb 11, 2016	MedGen:C2673759,OMIM:220290;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness	germline;unknown	13	20189563	CCAGAGTAGAAGATGGATTGGGGCACGCTGCAGACGATCCTGGGGGGTGTGAACAAACACT
-1	426490	NM_001145408.1(NONO):c.217C>T (p.Arg73Ter)	NONO	May 17, 2017	MedGen:CN517202	not provided	germline	X	71291841	AGAAAACCAGGAGAGAAGACCTTCACCCAACGAAGCCGTCTTTTTGTGGGAAATCTTCCTC
387906854	39268	NM_005902.3(SMAD3):c.335C>T (p.Ala112Val)	SMAD3	Sep 02, 2011	MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984	Loeys-Dietz syndrome 3	germline	15	67165023	AGCTACGGGCCATGGAGCTGTGTGAGTTCGCCTTCAATATGAAGAAGGACGAGGTCTGCGT
587783457	168636	NM_017780.3(CHD7):c.7891C>T (p.Arg2631Ter)	CHD7	Apr 04, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60862256	CAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTT
756854513	269221	NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter)	LAMA2	Nov 20, 2015	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129316161	CTTATCAAAGCTACTTATGGAAATTTCATGCGACAAAGCAGGTAAACTCTAATAGAAAATA
281874682	47364	NM_000495.4(COL4A5):c.1883C>T (p.Pro628Leu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598805	GGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGG
1064796882	411485	NM_001008537.2(NEXMIF):c.766C>T (p.Gln256Ter)	NEXMIF	Mar 16, 2017	MedGen:CN517202	not provided	germline	X	74743791	ACAGAAGAAGCTTTGCTTGCAAATTCCAATCAGGATTGGGGTTACTTCGAGACTTTTATTA
74315521	22442	NM_006941.3(SOX10):c.748C>T (p.Gln250Ter)	SOX10	Dec 01, 2002	MedGen:C1836727,OMIM:609136,Orphanet:ORPHA163746	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	germline	22	37974148	ACCCCTCCAACCACCCCGAAGACAGAGCTGCAGTCGGGCAAGGCAGACCCGAAGCGGGACG
-1	482160	NM_005993.4(TBCD):c.988C>T (p.Gln330Ter)	TBCD	Nov 21, 2017	MedGen:CN517202	not provided	germline	17	82805912	CGTGGCTGCCGATCTTTGGCTGCAAATCTGCAGCTCCTCACTCAGGGTCAGAGTGAGCAGA
727505104	176706	NM_144612.6(LOXHD1):c.3169C>T (p.Arg1057Ter)	LOXHD1	May 15, 2014	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	18	46559495	TACGGCGAGGAGTATGGAGACACGGGCGAACGACCCCTGAAGAAGTCAGACAAGTCCAACA
104894952	24961	NM_003336.3(UBE2A):c.382C>T (p.Gln128Ter)	UBE2A	Sep 01, 2006	MedGen:C3275464,OMIM:300860,Orphanet:ORPHA163956	Syndromic mental retardation, Nascimento type, X-linked	germline	X	119583178	CCCAATAGTCCAGCAAACAGCCAGGCTGCTCAGCTGTACCAGGAGAACAAACGGGAATATG
762771340	420434	NM_014804.2(KIAA0753):c.943C>T (p.Gln315Ter)	KIAA0753	Jun 21, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Jeune thoracic dystrophy;Joubert syndrome	inherited;not applicable	17	6623043	GCTGCCCATCGAGGAGCCATTCGGGCCTTACAGATGTTTGTCACTCAGTTTACTGACCGAG
121909765	21828	NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile)	DHCR7	May 02, 2016	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71437909	TCTACGTGATTGACTTCTTCTGGAACGAAACCTGGTACCTGAAGACCATTGACATCTGCCA
863224471	213502	NM_000166.5(GJB1):c.547C>T (p.Arg183Cys)	GJB1	Mar 28, 2017	MedGen:CN118851;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;not provided	germline	X	71224254	TGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCT
63751099	96530	NM_000251.2(MSH2):c.28C>T (p.Gln10Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47403219	GACATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCG
267608493	153555	NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp)	CDKL5	May 16, 2017	MedGen:CN128785;MedGen:C2748910,Orphanet:ORPHA3095;MedGen:C1839333,OMIM:300672;MedGen:C1839333,OMIM:300672;MedGen:CN517202	Angelman syndrome-like;Atypical Rett syndrome;Early infantile epileptic encephalopathy 2;Early infantile epileptic encephalopathy 2;not provided	de novo;germline;unknown	X	18584331	TACACAGAGTACGTTGCCACCAGATGGTATCGGTCCCCAGAACTCTTACTTGGGTGAGTTA
398124074	100710	NM_004006.2(DMD):c.8608C>T (p.Arg2870Ter)	DMD	Mar 16, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31479043	CCTGTAATCATGAGTACTCTTGAGACTGTACGAATATTTCTGACAGAGCAGCCTTTGGAAG
886039539	260225	NM_000214.2(JAG1):c.148C>T (p.Gln50Ter)	JAG1	Jan 04, 2017	MedGen:CN517202	not provided	germline	20	10672940	CTGTCCATGCAGAACGTGAACGGGGAGCTGCAGAACGGGAACTGCTGCGGCGGCGCCCGGA
-1	446041	NM_001127221.1(CACNA1A):c.6400C>T (p.Arg2134Ter)	CACNA1A	Nov 03, 2017	MedGen:CN517202	not provided	germline	19	13209441	CGTTCAGCCTCCGTGCTGGGCCCCAAGGCCCGACGCCTGGACGATTACTCGCTGGAGCGGG
727503979	177139	NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter)	KMT2D	Jun 28, 2017	MedGen:CN030661,OMIM:147920;MedGen:CN517202	Kabuki syndrome 1;not provided	germline	12	49026710	GCACTGATGAATGTGGAGGTTGCCCTGCACCGAGGACTGCTAACCAAGTGCTCCCTGTGCC
869025315	223698	NM_173471.3(SLC25A26):c.596C>T (p.Pro199Leu)	SLC25A26	Feb 11, 2016	MedGen:C4225206,OMIM:616794,Orphanet:ORPHA466784	Combined oxidative phosphorylation deficiency 28	germline	3	66369505	CAGGTGGATTTGCCGCTGCAGTCACCACCCCTCTAGACGTGGCAAAGACAAGAATTACGCT
61748421	26867	NM_004992.3(MECP2):c.502C>T (p.Arg168Ter)	MECP2	Jul 31, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;MedGen:CN517202	Intellectual disability;Mental retardation, X-linked, syndromic 13;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;not provided	de novo;germline;maternal;unknown	X	154031326	ACGGTAACTGGGAGAGGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAAT
137854466	31478	NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter)	FBN1	Aug 10, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48411280	TTCAATATTTCCCACGTCAGTAACAAGGTTCGAATCCTAGAACTCCTTCCAGCTCTTACAA
104893762	28648	NM_001122757.2(POU1F1):c.793C>T (p.Pro265Ser)	POU1F1	Jun 01, 1998	MedGen:C2751608,OMIM:613038	Pituitary hormone deficiency, combined 1	germline	3	87260055	CTGGAGAGACACTTTGGAGAACAGAATAAACCTTCTTCTCAAGAGATCATGAGGATGGCTG
371427844	260065	NM_002225.3(IVD):c.1183C>T (p.Arg395Cys)	IVD	Feb 26, 2016	MedGen:CN517202	not provided	germline	15	40418165	AATGGCTACATCAATGACTTTCCCATGGGCCGCTTTCTTCGAGATGCCAAGCTGTATGAGA
121908043	228164	NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113307	GGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACC
-1	446873	NM_001142966.2(GREB1L):c.3295C>T (p.Gln1099Ter)	GREB1L	Dec 18, 2017	MedGen:CN703737,OMIM:617805	RENAL HYPODYSPLASIA/APLASIA 3	germline	18	21496602	ACTGTTGCCCTGGACCTCAGCGGGAAGGAGCAGGAGAGAGCTGCTGTCAGTGAGAATGACT
397514640	48596	NM_000280.4(PAX6):c.112C>T (p.Arg38Trp)	PAX6	Feb 22, 2013	MedGen:C0344542,OMIM:106210	Aniridia 1	germline	11	31802733	AAGATTGTAGAGCTAGCTCACAGCGGGGCCCGGCCGTGCGACATTTCCCGAATTCTGCAGG
137852893	17830	NM_000158.3(GBE1):c.784C>T (p.Arg262Cys)	GBE1	Nov 15, 2016	MedGen:C1856304,Orphanet:ORPHA308670;MedGen:C1849722,OMIM:263570,Orphanet:ORPHA206583	Glycogen storage disease IV, congenital neuromuscular;Polyglucosan body disease, adult	germline;maternal	3	81642989	CTTCTTTTTGCTGTGTTCTTCATTGTTAGCCGTTATGGAACACCTGAAGAGCTACAAGAAC
137852608	24518	NM_001298.2(CNGA3):c.1228C>T (p.Arg410Trp)	CNGA3	Jul 01, 1998	MedGen:C1857618,OMIM:216900	Achromatopsia 2	germline	2	98396398	GGCTCCATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGATTCCA
-1	470077	NM_007194.3(CHEK2):c.247C>T (p.Gln83Ter)	CHEK2	Jan 17, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	22	28734475	TCTATTCCTGAGGACCAAGAACCTGAGGACCAAGAACCTGAGGAGCCTACCCCTGCCCCCT
869025203	213912	NM_032682.5(FOXP1):c.1540C>T (p.Arg514Cys)	FOXP1	Feb 16, 2017	MedGen:C3150923,OMIM:613670	Mental retardation with language impairment and with or without autistic features	de novo;germline;not applicable	3	70972667	TCTCTTTTATACTTGCTGCAGAATGCAGTGCGTCATAATCTTAGTCTTCACAAGTGTTTTG
397515561	76605	NM_005982.3(SIX1):c.334C>T (p.Arg112Cys)	SIX1	Jun 20, 2013	MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Melnick-Fraser syndrome	not provided	14	60648856	CCCCTGGGCGCCGTGGGCAAATATCGGGTGCGCCGAAAATTTCCACTGCCGCGCACCATCT
-1	452357	NM_145860.1(PDCD10):c.322C>T (p.Arg108Ter)	PDCD10	Jun 15, 2017	MedGen:C1864040,OMIM:603285;MedGen:CN517202	Cerebral cavernous malformations 3;not provided	germline	3	167695669	CCAGAATTCCAAGACCTAAACGAAAAGGCACGAGCACTTAAACAAATTCTCAGTAAGATCC
878853280	214799	NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter)	FRRS1L	Aug 25, 2016	Human Phenotype Ontology:HP:0002072,MedGen:C0008489,Orphanet:ORPHA306715;MedGen:C4310770,OMIM:616981;Human Phenotype Ontology:HP:0002448,MedGen:C1838578;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Chorea;Epileptic encephalopathy, early infantile, 37;Progressive encephalopathy;Seizures	germline;inherited	9	109137529	GAAGACATTTTTATGCCATCAGCTGCCTATCAAACCTTCTCATCTCCATTTTGTTTGCTTC
63750973	33139	NM_000484.3(APP):c.2141C>T (p.Thr714Ile)	APP	Jan 25, 2005	MedGen:C1863052;MedGen:CN517202	Alzheimer disease, type 1;not provided	germline	21	25891792	GACTCATGGTGGGCGGTGTTGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGAA
137853202	28243	NM_198843.2(SFTPB):c.742C>T (p.Arg248Cys)	SFTPB	Dec 01, 1995	MedGen:C1968602,OMIM:265120,Orphanet:ORPHA217563	Surfactant metabolism dysfunction, pulmonary, 1	germline	2	85663814	GCGCTAGCTGTGGCAGTGGCCCAGGTGTGCCGCGTGGTACCTCTGGTGGCGGGCGGCATCT
587776577	18539	NM_024426.4(WT1):c.1432+4C>T	WT1	Mar 31, 2017	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002;MedGen:C0950122,OMIM:136680,Orphanet:ORPHA347,SNOMED CT:445431000;MedGen:CN043611;MedGen:CN517202	Diffuse mesangial sclerosis;Frasier syndrome;Hereditary nephrotic syndrome;not provided	germline	11	32391968	ACACCAGGACTCATACAGGTAAAACAAGTGCGTAAACTTTTCTTCACATTTATTTTTCATT
767713084	226968	NM_001242875.2(ELP2):c.1579C>T (p.Arg527Trp)	ELP2	Dec 23, 2016	MeSH:D030342,MedGen:C0950123;MedGen:C4310641,OMIM:617270;MedGen:CN517202	Inborn genetic diseases;Mental retardation, autosomal recessive 58;not provided	germline	18	36156574	TTTGTATCTGGAGCAGATGAAAAAGTTCTTCGGGTTTTTTCTGCACCTCGGAATTTTGTGG
121908255	21865	NM_005189.2(CBX2):c.293C>T (p.Pro98Leu)	CBX2	May 01, 2009	MedGen:C2751317,OMIM:613080	46,XY sex reversal, type 5	germline	17	79783736	AGCCAACTTCTCCTTTATCTTTCCAGGAACCCGATGCTCCCTCCAAATCCAAGTCCAGCAG
281865104	34670	NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter)	HPS5	Aug 02, 2017	MedGen:C3888004,OMIM:614074	Hermansky-Pudlak syndrome 5	germline	11	18287659	TTGTATGAAAAGTTTGGGGAGTCTGCTCTTCGATCCTTAATCAAGTTCTTTCCATCCATTT
878853865	242637	NM_000267.3(NF1):c.1381C>T (p.Arg461Ter)	NF1	Aug 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	de novo;germline	17	31206360	GTGCAAGGTTGTGGAGCACACCCAGCAATACGAATGGCACCGGTAAGATAAATCACGAATT
387906843	39241	NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter)	RAD51D	Sep 27, 2017	MedGen:C3280345,OMIM:614291;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 4;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	35106406	TTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGC
121918354	22642	NM_000299.3(PKP1):c.910C>T (p.Gln304Ter)	PKP1	Oct 01, 1997	MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668	Ectodermal dysplasia skin fragility syndrome	germline	1	201317635	GACCTCCTCCGCAGCCCCAACCAGAACGTCCAGCAGGCCGCGGCAGGGGCCCTGCGCAACC
199469662	44121	NM_006726.4(LRBA):c.5047C>T (p.Arg1683Ter)	LRBA	Jul 06, 2012	MedGen:C3553512,OMIM:614700,Orphanet:ORPHA445018	Common variable immunodeficiency 8, with autoimmunity	germline	4	150828304	TCAAAAAACGTCAATGTGAAAGACATTCTCCGAAGCTTGGTTAACATACCAGCAGATGGAG
121908578	21210	NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys)	BCS1L	Oct 06, 2016	MedGen:C4016851;MedGen:C1852372,OMIM:124000;MedGen:CN517202	Bjornstad syndrome with mild mitochondrial complex III deficiency;Mitochondrial complex III deficiency;not provided	germline	2	218661848	TCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTAC
765468034	230729	NM_016239.3(MYO15A):c.5896C>T (p.Arg1966Ter)	MYO15A	Jun 08, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	17	18142826	CGGTCCCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCTACCCT
748089700	358799	NM_004168.3(SDHA):c.1534C>T (p.Arg512Ter)	SDHA	Oct 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3279992,OMIM:614165;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Paragangliomas 5;not provided	germline;unknown	5	240459	GCTGATGGAAGCATAAGAACATCGGAACTGCGACTCAGCATGCAGAAGGTAAGAGCCTGGA
80356595	34692	NM_194248.2(OTOF):c.2887C>T (p.Arg963Ter)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26476018	TTCCCCACAGAGAAGCAGGCGTTCCAGCTCCGAGCGCACATGTACCAGGCCCGCAGCCTCT
797045969	207916	NM_024698.5(SLC25A22):c.418C>T (p.Gln140Ter)	SLC25A22	Sep 07, 2017	MedGen:C0270855,OMIM:609304,Orphanet:ORPHA1935,SNOMED CT:44423001;MedGen:CN517202	Early myoclonic encephalopathy;not provided	germline	11	792722	GAGACAGCAGCCTCTTTGTCCCCAGCCGCCCAGAGGAAGATCCTGGCTGCCCAGGGCCAGC
559979281	214737	NR_023343.1(RNU4ATAC):n.13C>T	RNU4ATAC	Nov 02, 2015	Gene:57788,MedGen:C1846059,OMIM:616651,Orphanet:ORPHA353298	Roifman syndrome	germline	2	121530892	CCAGGGACTTTCTATTATAACCATCCTTTTCTTGGGGTTGCGCTACTGTCCAATGAGCGCA
786202023	184620	NM_001042492.2(NF1):c.3208C>T (p.Gln1070Ter)	NF1	Jun 18, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31232083	TTTTTTTTTTTTTTTTTCAGAGATTTGGACCAGGCAAGCATGGAAGCAGTAGTTTCACTTC
781368899	195475	NM_138694.3(PKHD1):c.10219C>T (p.Gln3407Ter)	PKHD1	May 23, 2014	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51659907	CAATTTCTGATGCAAGGATTCATCTGCAAACAGACTGACCAAGTGGTCCTAATTCTTGATA
201257588	409576	NM_001199107.1(TBC1D24):c.58C>T (p.Gln20Ter)	TBC1D24	Jan 30, 2017	MedGen:CN517202	not provided	germline	16	2496206	GTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCA
118203631	58047	NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter)	TSC1	Feb 23, 2017	MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009;MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Malignant tumor of urinary bladder;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	germline	9	132903785	TCTCCTCCTTCAGATGAGATCCGCACCCTCCGAGACCAGTTGCTTTTACTGCACAACCAGT
398123721	100076	NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter)	KMT2D	Feb 08, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49027256	TATACCTACAATGTCTCCAATCTGGATGTGCGACAGCTCTCGGCCCCACCTCCTGAAGAAC
137852766	23785	NM_000076.2(CDKN1C):c.139C>T (p.Gln47Ter)	CDKN1C	Mar 01, 1999	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002	Beckwith-Wiedemann syndrome	germline	11	2885351	GTGGACCACGAGGAGCTGAGCCGCGAGCTGCAGGCCCGCCTGGCCGAGCTGAACGCCGAGG
754051090	244007	NM_002437.4(MPV17):c.106C>T (p.Gln36Ter)	MPV17	May 31, 2016	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229	Navajo neurohepatopathy	inherited	2	27313074	CTGATGGGCCTGGGTGACATTATCTCACAGCAGCTGGTGGAGAGGCGGGGTCTGCAGGAAC
72558451	103227	NM_000531.5(OTC):c.808C>T (p.Gln270Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408966	TTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGAAGAAAAAGCGGCTCCAGG
63750114	95517	NM_000249.3(MLH1):c.2101C>T (p.Gln701Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37049015	ATATCTGAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCC
179363889	79109	NM_000383.3(AIRE):c.1616C>T (p.Pro539Leu)	AIRE	Feb 25, 2016	MedGen:C0085859,OMIM:240300,Orphanet:ORPHA3453,SNOMED CT:11244009;MedGen:CN517202	Polyglandular autoimmune syndrome, type 1;not provided	germline;unknown	21	44297705	TGCAGTGGGCCATCCAGAGCATGGCCCGTCCGGCGGCCCCCTTCCCCTCCTGACCCCAGAT
775080726	439495	NM_153223.3(CEP120):c.1646C>T (p.Ala549Val)	CEP120	Nov 06, 2017	MedGen:CN593637,OMIM:617761	JOUBERT SYNDROME 31	germline	5	123385068	AAATGAGTAAAGATTTACTTCTGGGAATTGCGAGAATCCAGCTTTCTAACATCTTGTCTTC
137852433	25281	NM_000132.3(F8):c.1988C>T (p.Ala663Val)	F8	Oct 01, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154947823	TGGCATACTGGTACATTCTAAGCATTGGAGCACAGACTGACTTCCTTTCTGTCTTCTTCTC
1060500122	397489	NM_000314.6(PTEN):c.445C>T (p.Gln149Ter)	PTEN	Nov 23, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	germline	10	87933204	TTATTACATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAA
377357931	213812	NM_014845.5(FIG4):c.1141C>T (p.Arg381Ter)	FIG4	Jan 16, 2014	MedGen:C1970011,OMIM:611228,Orphanet:ORPHA139515	Charcot-Marie-Tooth disease, type 4J	germline	6	109760253	ACTGAAAATGTTTAATTTTTGATAAAGGAACGAGAGAAAAGAAAGCATGAAAGAATTCTGA
587777167	106652	NM_012414.3(RAB3GAP2):c.1276C>T (p.Arg426Cys)	RAB3GAP2	May 01, 2013	MedGen:C0796037,OMIM:212720,Orphanet:ORPHA1387	Martsolf syndrome	germline	1	220191279	ACTTCCCTTTACCTCTGTCTCTAAGGGTACCGCGACGCACAAATTGGATGGATTCAAACTG
747993448	181710	NM_001128425.1(MUTYH):c.544C>T (p.Arg182Cys)	MUTYH	Sep 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline;unknown	1	45332795	CAACTCTGGGCTGGCCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAGCTCGGA
80358631	66218	NM_000059.3(BRCA2):c.3871C>T (p.Gln1291Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline;unknown	13	32338226	AAAACTGTAAGTGAAAAAAATAATAAATGCCAACTGATATTACAAAATAATATTGAAATGA
76871093	24203	NM_000344.3(SMN1):c.821C>T (p.Thr274Ile)	SMN1	Jul 31, 2017	MedGen:C0152109,OMIM:253400,Orphanet:ORPHA83419,SNOMED CT:54280009;MedGen:C0393538,OMIM:253550,Orphanet:ORPHA83418,SNOMED CT:128212001;MedGen:CN517202	Kugelberg-Welander disease;Spinal muscular atrophy, type II;not provided	germline	5	70946163	TAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATGGTAAGTAATCACTCAGC
587778773	76731	NM_000142.4(FGFR3):c.791C>T (p.Thr264Met)	FGFR3	Sep 26, 2013	MedGen:C0410529,OMIM:146000,Orphanet:ORPHA429,SNOMED CT:205468002	Hypochondroplasia	not provided	4	1801886	TCCTGCAGGCGGGGCTGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCA
-1	481274	NM_001288653.1(CLTC):c.2681C>T (p.Pro894Leu)	CLTC	Feb 02, 2018	MedGen:CN787270,OMIM:617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	germline	17	59677061	CCAAAATCTACATAGACAGTAATAACAACCCGGAGAGATTTCTTCGTGAAAATCCCTACTA
1085307150	414076	NM_001204.6(BMPR2):c.28C>T (p.Arg10Trp)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377502	GGGATGACTTCCTCGCTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGC
748529285	206735	NM_018136.4(ASPM):c.10060C>T (p.Arg3354Ter)	ASPM	Jul 23, 2015	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197088357	GATATACTATTGGAGCTTTTGCAGATATACCGAGAAAAGCCTGGTAATAAAGTTGCAGACA
373273223	200708	NM_024741.2(ZNF408):c.1363C>T (p.His455Tyr)	ZNF408	Jun 11, 2013	MedGen:C4225316,OMIM:616468	Exudative vitreoretinopathy 6	germline	11	46705063	GCCTTTGCCCGCCGGCCCTCCCTGCGGCTGCATCGCAAGACCCACCAGGTGCCAGCTGCCC
121908538	21017	NM_003850.2(SUCLA2):c.850C>T (p.Arg284Cys)	SUCLA2	Mar 01, 2007	MedGen:C2749864,OMIM:612073,Orphanet:ORPHA1933	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	germline	13	47954510	AAGATCAATTTTGACTCTAATTCAGCCTATCGCCAAAAGAAAATCTTTGATCTACAGGACT
28937882	20065	NM_020638.2(FGF23):c.535C>T (p.Arg179Trp)	FGF23	Nov 20, 2015	MedGen:C0342642,OMIM:193100,Orphanet:ORPHA89937,SNOMED CT:237889002;MedGen:CN517202	Autosomal dominant hypophosphatemic rickets;not provided	germline	12	4370564	TTCAACACCCCCATACCACGGCGGCACACCCGGAGCGCCGAGGACGACTCGGAGCGGGACC
373585652	100252	NM_003494.3(DYSF):c.610C>T (p.Arg204Ter)	DYSF	Nov 02, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline;unknown	2	71513868	CCGCCCCACTACCCCGGGATCAAAAGAAAGCGAAGTGCGCCTACATCTAGAAAGCTGCTGT
752362727	214282	NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1853153,OMIM:610688;Human Phenotype Ontology:HP:0001562,MedGen:C0079924;Human Phenotype Ontology:HP:0000107,MedGen:C0022679	Joubert syndrome;Joubert syndrome 6;Oligohydramnios;Renal cyst	unknown	8	93786255	AGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTCTTAGTGGATGCAGTAAGTGGAC
786202500	181840	NM_000465.3(BARD1):c.496C>T (p.Gln166Ter)	BARD1	Jul 20, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	2	214781378	TATGTTGTGAGTAAAGCTTCAGTGCAAACCCAGCCTGCAATAAAAAAAGATGCAAGTGCTC
749083759	421167	NM_002016.1(FLG):c.10969C>T (p.Arg3657Ter)	FLG	Sep 08, 2015	MedGen:CN517202	not provided	germline	1	152303917	GCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTCCAGTGGTAGTCAGGCCAGTGACA
1131691647	421198	NM_001005337.2(PKP1):c.1840C>T (p.Gln614Ter)	PKP1	Oct 14, 2015	MedGen:CN517202	not provided	germline	1	201324946	GTGCCCCAACTCGTTCCTCTCCCAGGGAACCAGGTGTTCCCGGAGGTGACCAGGCTCCTCA
869312668	225815	NM_001005463.2(EBF3):c.530C>T (p.Pro177Leu)	EBF3	Feb 07, 2017	MedGen:C4310618,OMIM:617330	Hypotonia, ataxia, and delayed development syndrome	de novo;germline	10	129957282	AGAAAAGTTGTGGCAATAGAAACGAAACGCCCTCAGACCCTGTAATCATTGACAGGTAAGG
28929469	33061	NM_000488.3(SERPINC1):c.166C>T (p.Arg56Cys)	SERPINC1	Oct 07, 2016	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005;MedGen:CN517202	Antithrombin III deficiency;not provided	germline	1	173914795	GACATTCCCATGAATCCCATGTGCATTTACCGCTCCCCGGAGAAGAAGGCAACTGAGGATG
72653743	426873	NM_001171.5(ABCC6):c.3427C>T (p.Gln1143Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163072	GGCAGCACAGTGGTCCGGGCATTCCGAACCCAGGCCCCCTTTGTGGCTCAGAACAATGCTC
281865008	47667	NM_024312.4(GNPTAB):c.3061C>T (p.Gln1021Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101761201	TCTCAAGTCTTTGATGAAGTTGATACAGATCAATCTGGTGTCTTGTCTGACAGAGAAATCC
104894708	19833	NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter)	PRX	Nov 01, 2012	MedGen:C3540453,OMIM:614895,Orphanet:ORPHA99952;MedGen:C0011195,OMIM:145900,Orphanet:ORPHA64748,SNOMED CT:111499002	Charcot-Marie-Tooth disease, demyelinating, type 4f;Dejerine-Sottas disease	germline;inherited	19	40395144	AAGCTGAAGATGCCTTCCTTTGGGCTGGCTCGAGGGAAGGAAGCAGAAGTTCAAGGTGATC
1131690865	420569	NM_000321.2(RB1):c.2104C>T (p.Gln702Ter)	RB1	Sep 18, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48459831	TATGAACTCATGAGAGACAGGCATTTGGACCAAGTAAGAAAATCAAGCACTTCACCTTCTC
-1	481212	NM_017780.3(CHD7):c.925C>T (p.Gln309Ter)	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	unknown	8	60742357	GTCCCCTCTCCTACTATAAACAACTCAGGGCAGTATTCTCGATATCCTTACAGTAACCTAA
369656775	237796	NM_016111.3(TELO2):c.779C>T (p.Pro260Leu)	TELO2	Jun 17, 2016	MedGen:C4310778,OMIM:616954	You-Hoover-Fong syndrome	germline	16	1497457	GCGTCTGCTGGCGCCTGGTGGAGCAAGTGCCGGACCGGGCCATGGAGGCTGTGCTGACCGG
104894074	24071	NM_002052.4(GATA4):c.155C>T (p.Ser52Phe)	GATA4	May 15, 2005	MedGen:C1842778,OMIM:607941	Atrial septal defect 2	germline	8	11708467	CGCGGGTGCCCTCCTCCGTGCTGGGCCTGTCCTACCTCCAGGGCGGAGGCGCGGGCTCTGC
121918185	15947	NM_000181.3(GUSB):c.1069C>T (p.Arg357Ter)	GUSB	Nov 01, 2014	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584;MedGen:C0455988,OMIM:236750,Orphanet:ORPHA363999,SNOMED CT:276509008	Mucopolysaccharidosis type VII;Non-immune hydrops fetalis	germline	7	65974701	GGGTCACTTGGCTCTGCTATCTCCTAGATCCGAGGGAAGGGCTTCGACTGGCCGCTGCTGG
398122939	65653	NM_018684.3(ZC4H2):c.601C>T (p.Pro201Ser)	ZC4H2	May 02, 2013	MedGen:C0796200,OMIM:314580,Orphanet:ORPHA3454	Wieacker syndrome	germline	X	64917857	TCATGTCACCAGCAAATTCACCGGAATGCACCTATATGCCCTCTTTGCAAGGCCAAGAGTC
730881333	180387	NM_000051.3(ATM):c.538C>T (p.Gln180Ter)	ATM	Sep 07, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:CN517202	Ataxia-telangiectasia syndrome;not provided	germline	11	108243994	GTGTACTTCAGGCTCTATCTGAAACCTTCACAAGATGTTCATAGAGTTTTAGTGGCTAGAA
1034327724	455810	NM_001010892.2(RSPH4A):c.1453C>T (p.Arg485Ter)	RSPH4A	Apr 05, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	6	116628160	CCTTTCCCAGGAAATGAGAGTAATTATTTACGAGCACAAATTGCCCGAATTTCAGCAGGAA
267607022	21226	NM_001014.4(RPS10):c.337C>T (p.Arg113Ter)	RPS10	Aug 01, 2013	MedGen:C2750081,OMIM:613308	Diamond-Blackfan anemia 9	germline	6	34421793	GGTTTGATTTACATAGGTCTGGAGGGTGAGCGACCTGCGAGACTCACAAGAGGGGAAGCTG
28940286	17440	NM_001024943.1(ASL):c.1153C>T (p.Arg385Cys)	ASL	Feb 02, 2017	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline;unknown	7	66092566	ATCTTCCTCCCTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGAAAGCTG
777652245	264397	NM_017780.3(CHD7):c.5029C>T (p.Arg1677Ter)	CHD7	Jun 09, 2016	MedGen:CN517202	not provided	germline	8	60845042	CTGATCACACCCACAGCGGATGGCCAGACTCGAGCCTTGGTCAACCATTCCGGTAGGTCTC
1057516953	357529	NM_000441.1(SLC26A4):c.281C>T (p.Thr94Ile)	SLC26A4	Jun 10, 2016	MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Pendred's syndrome	unknown	7	107663412	TGCTTAGTGACGTCATTTCGGGAGTTAGTACTGGGCTAGTGGCCACGCTGCAAGGTAAGAT
121912496	29563	NM_170707.3(LMNA):c.745C>T (p.Arg249Trp)	LMNA	Oct 19, 2017	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Congenital muscular dystrophy, LMNA-related;not provided	germline	1	156134910	AGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGT
29001637	28054	NM_000539.3(RHO):c.1039C>T (p.Pro347Ser)	RHO	Nov 26, 1996	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129533710	GTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGC
104893952	23494	NM_001453.2(FOXC1):c.67C>T (p.Gln23Ter)	FOXC1	Feb 01, 2001	MedGen:C2678503,OMIM:602482	Axenfeld-Rieger syndrome type 3	germline	6	1610512	CTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGG
113994143	17136	NM_000920.3(PC):c.1351C>T (p.Arg451Cys)	PC	Jul 21, 2011	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001	Pyruvate carboxylase deficiency	germline	11	66863791	ACCAAGATGAGCAGGGCCCTTGCGGAGTTCCGCGTCCGAGGTGTGAAGGTGAGAGGCTGCA
56699480	29553	NM_170707.3(LMNA):c.1477C>T (p.Gln493Ter)	LMNA	Jan 22, 2018	MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264;MedGen:CN517202	Limb-girdle muscular dystrophy, type 1B;not provided	germline	1	156137017	TTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTG
-1	433055	NM_000118.3(ENG):c.1306C>T (p.Gln436Ter)	ENG	Feb 24, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN169374	Osler hemorrhagic telangiectasia syndrome;not specified	germline;somatic	9	127819627	GTGGTCAATATCCTGTCGAGCTCATCACCACAGCGGGTGAGATGGACAGTCACGTGCTAAC
759363072	407938	NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter)	BMPR1A	Aug 23, 2016	MedGen:CN517202	not provided	germline	10	86917188	ATTCAGATGGTCCGGCAAGTTGGTAAAGGCCGATATGGAGAAGTATGGATGGGCAAATGGC
797045058	205744	NM_022455.4(NSD1):c.7966C>T (p.Gln2656Ter)	NSD1	Mar 20, 2014	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	de novo	5	177295334	GCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTG
202100019	406034	NM_006463.5(STAMBP):c.938C>T (p.Thr313Ile)	STAMBP	Mar 24, 2017	MedGen:CN517202	not provided	germline	2	73850446	AGCAAAGTGCTGGGTCTGATTACTGCAACACAGAGAACGAAGAAGAACTTTTCCTCATACA
886040711	261415	NM_000059.3(BRCA2):c.7501C>T (p.Gln2501Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32356493	CAGGATATGCGAATTAAGAAGAAACAAAGGCAACGCGTCTTTCCACAGCCAGGCAGTCTGT
863225387	214580	NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter)	MSH2	Jul 01, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	2	47429902	GATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAA
80338672	17818	NM_000158.3(GBE1):c.1543C>T (p.Arg515Cys)	GBE1	Aug 30, 2013	MedGen:C1856301;MedGen:C0017923,OMIM:232500,SNOMED CT:11179002;MeSH:D030342,MedGen:C0950123	Glycogen storage disease IV, classic hepatic;Glycogen storage disease, type IV;Inborn genetic diseases	germline	3	81578000	GTCCTGACTCCTTTTACTCCAGTTATTGATCGTGGAATACAGCTTCATAAAATGATTCGAC
-1	482012	NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter)	MED13L	Jan 02, 2018	MedGen:CN517202	not provided	germline	12	115991485	CTTTACATCCCCGATTCTTCCAATGAGGACCAGTACCGCTGTACCTGTGGGTTTAGTGCGA
398122405	94424	NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter)	DNAJC6	Nov 21, 2013	MedGen:C3809811,OMIM:615528	Parkinson disease 19a, juvenile-onset	germline	1	65406052	CCTCAGCCCAGCATGCCCCACTCCTCTCCCCAGAACCGACCCAACTACAACGTGAGCTTCT
121908607	21152	NM_176806.3(MOCS2):c.16C>T (p.Gln6Ter)	MOCS2	Nov 22, 2001	MedGen:C1854989,OMIM:252160,Orphanet:ORPHA308393	Molybdenum cofactor deficiency, complementation group B	germline	5	53109714	GCTGTCCTAGGCGGGATGGTGCCGCTGTGCCAGGTAAGGGTGGCGGGTGTGCGTGCGGGCC
397514622	48451	NM_001170961.1(IGSF1):c.2588C>T (p.Ser863Phe)	IGSF1	Dec 01, 2012	MedGen:C3550963,OMIM:300888,Orphanet:ORPHA329235	Hypothyroidism, central, and testicular enlargement	germline	X	131276974	GCTGCCGATATTATGACTTTTCTATCTGGTCTGAGCCCAGCGACCCTGTGGAGCTCGTGGT
121918419	31088	NM_021957.3(GYS2):c.736C>T (p.Arg246Ter)	GYS2	Aug 01, 1998	MedGen:C1855861,OMIM:240600,Orphanet:ORPHA2089	Hypoglycemia with deficiency of glycogen synthetase in the liver	germline	12	21568952	AGGCAGATTTACCACCGGTACTGCATGGAGCGAGCTTCCGTTCATTGCGCTCACGTGTTCA
796052515	201901	NM_000816.3(GABRG2):c.1336C>T (p.Arg446Trp)	GABRG2	May 02, 2013	MedGen:CN517202	not provided	germline	5	162153300	ATCCGCATTGCCAAAATGGACTCCTATGCTCGGATCTTCTTCCCCACTGCCTTCTGCCTGT
879255260	205421	NM_000445.4(PLEC):c.1486C>T (p.Gln496Ter)	PLEC	Jan 14, 2014	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403	Epidermolysis bullosa junctionalis with pyloric atresia	germline	8	143933210	CTCAAGGATGGACGGCACCCGCAGGGCGAGCAGATGTACCGCAGGTGGGCCCCGCCCTGCC
587777444	141321	NM_000414.3(HSD17B4):c.1538C>T (p.Pro513Leu)	HSD17B4	Mar 18, 2014	MedGen:C0685838,OMIM:233400,Orphanet:ORPHA2855,SNOMED CT:93466004	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	germline	5	119525250	CTTTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGATCCTAACTTTGCTAGTCT
587782400	152065	NM_004329.2(BMPR1A):c.817C>T (p.Arg273Ter)	BMPR1A	Sep 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome;not provided	germline	10	86917275	TTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGTGCTAA
794727279	192405	NM_001128227.2(GNE):c.79C>T (p.Arg27Ter)	GNE	May 22, 2016	MedGen:C1833373,OMIM:600737	Inclusion body myopathy 2	germline	9	36249370	CAGGAACTCTATTTTAAGAACCTCTCAAAACGAAACAAGCAAATCATGGAGAAGAATGGAA
587783712	168963	NM_003482.3(KMT2D):c.3553C>T (p.Gln1185Ter)	KMT2D	Feb 08, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49050035	ACAGCAGGGCAGGGCTCACCATGTGAAGAACAGGAAGAGCCACGTGCACCGGTGGCCCCCA
748416758	456937	NM_001458.4(FLNC):c.6976C>T (p.Arg2326Ter)	FLNC	Jun 29, 2017	MedGen:CN239310	Dilated Cardiomyopathy, Dominant	germline	7	128854661	AAGGTGCGGGCCGGAGGCACAGGGCTGGAGCGAGGTGTGGCCGGCGTGCCAGGTAAGGGGC
886040193	261679	NM_007294.3(BRCA1):c.4066C>T (p.Gln1356Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43091465	GAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAG
104894698	29870	NM_005543.3(INSL3):c.304C>T (p.Arg102Cys)	INSL3	Sep 01, 2003	Human Phenotype Ontology:HP:0000028,MedGen:C0010417,OMIM:219050	Cryptorchidism, unilateral or bilateral	germline	19	17816946	CAGCCCCTGCCCCAGACCTCTCACCATCACCGCCACCACCGTGCAGCTGCCACCAACCCTG
730882249	181423	NM_004722.3(AP4M1):c.952C>T (p.Arg318Ter)	AP4M1	Dec 01, 2014	Human Phenotype Ontology:HP:0012444,MedGen:C0235946;Human Phenotype Ontology:HP:0003429,MedGen:C0544820;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0002079,MedGen:C0344482;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:C2752008,OMIM:612936	Brain atrophy;CNS hypomyelination;Global developmental delay;Hypoplasia of the corpus callosum;Microcephaly;Spastic paraplegia 50, autosomal recessive	germline	7	100105981	TCATCCAGGCTCCAGGTTTATCTAAAGTTGCGATGTGACCTGCTCTCAAAGAGGTAAGAGT
201065226	199958	NM_000098.2(CPT2):c.370C>T (p.Arg124Ter)	CPT2	Oct 02, 2017	MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305;MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308;MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302;MedGen:CN517202	Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;not provided	germline;unknown	1	53210044	GGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCAT
587776960	59478	NM_001001937.1(ATP5F1A):c.985C>T (p.Arg329Cys)	ATP5F1A	May 15, 2013	MedGen:C3808899,OMIM:615228	Mitochondrial complex v (atp synthase) deficiency, nuclear type 4	germline	18	46087199	GTTGCTTACCGTCAGATGTCTCTGTTGCTCCGCCGACCCCCTGGTCGTGAGGCCTATCCTG
121908409	20237	NM_054027.4(ANKH):c.14C>T (p.Pro5Leu)	ANKH	Oct 01, 2002	MedGen:C0856830,OMIM:118600	Chondrocalcinosis 2	germline	5	14871434	AGCCCACGGCGGGGACTATGGTGAAATTCCCGGCGCTCACGCACTACTGGCCCCTGATCCG
397518460	94271	NM_013335.3(GMPPA):c.295C>T (p.Arg99Ter)	GMPPA	Oct 03, 2013	MedGen:C3809738,OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	germline	2	219501903	CTAGGCACAGGGGGTGGTCTTTACCATTTTCGAGACCAGATCCTGGCTGGGAGCCCCGAGG
111033737	36562	NM_000155.3(GALT):c.610C>T (p.Arg204Ter)	GALT	Sep 03, 2014	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline;unknown	9	34648379	TTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATG
104894927	25590	NM_006915.2(RP2):c.358C>T (p.Arg120Ter)	RP2	Jan 01, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C2681923,OMIM:312600	Retinal dystrophy;Retinitis pigmentosa 2	unknown	X	46853731	TGCACATTAGCCTGCCAACAATTTCGTGTGCGAGATTGTAGAAAGCTGGAAGTCTTTTTGT
121908002	18878	NM_016123.3(IRAK4):c.877C>T (p.Gln293Ter)	IRAK4	Dec 01, 2006	MedGen:C1843256,OMIM:607676,Orphanet:ORPHA70592	IRAK4 deficiency	germline	12	43778238	CTTTCTTGGCACATGAGATGCAAGATTGCTCAGGGTGCAGCTAATGGCATCAATTTTCTAC
876658166	235282	NM_024675.3(PALB2):c.1378C>T (p.Gln460Ter)	PALB2	Apr 07, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23635168	AATTTAAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCACATGCA
1057519296	361799	NM_138773.3(SLC25A46):c.425C>T (p.Thr142Ile)	SLC25A46	Jan 14, 2017	MedGen:C4225302,OMIM:616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	germline	5	110746309	ATGCTCAGCATTACCATCTCACTCCATTTACAGTCATCAATATTATGTACAGTTTCAACAA
180177097	132093	NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter)	PALB2	Aug 04, 2017	MedGen:CN068448;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:C3150547,OMIM:613348	Breast cancer, susceptibility to;Familial cancer of breast;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3	germline	16	23635519	ACCTACAATAACTTACCAGCAAATGAAAACCAAAACTTAAAAGAACAAAATCAAACAGAGA
397514763	75612	NM_002295.5(RPSA):c.172C>T (p.Leu58Phe)	RPSA	May 24, 2013	MedGen:C1849084,OMIM:271400	Asplenia, isolated congenital	germline	3	39408644	ATCATAAATCTCAAGAGGACCTGGGAGAAGCTTCTGCTGGCAGCTCGTGCAATTGTTGCCA
1085307371	414333	NM_001204.6(BMPR2):c.1969C>T (p.Q657*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202555634	CAGTCAATTGGGCCAACCCCTGTCTGCTTACAGCTGACAGAAGAAGACTTGGAAACCAACA
267606751	15470	NM_020312.3(COQ9):c.730C>T (p.Arg244Ter)	COQ9	Jun 07, 2016	MedGen:C3553374,OMIM:614654,Orphanet:ORPHA319678	Coenzyme Q10 deficiency, primary, 5	germline	16	57459583	GTTTCTTTACAGTTTAACTGGTACACCCGCCGAGCCATGCTGGCTGCCATCTACAACACAA
370879515	269903	NM_000486.5(AQP2):c.763C>T (p.Gln255Ter)	AQP2	Jan 21, 2016	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	12	49955555	GATTGGGAGGAGCGCGAGGTGCGACGGCGGCAGTCGGTGGAGCTGCACTCGCCGCAGAGCC
587778787	76758	NM_000784.3(CYP27A1):c.1402C>T (p.Pro468Ser)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218814683	CCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGG
746681765	359147	NM_138773.3(SLC25A46):c.1018C>T (p.Arg340Cys)	SLC25A46	Jan 14, 2017	MedGen:C4225302,OMIM:616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	germline	5	110761543	ATACTTTACCCATTGGAAACAGTTTTGCACCGCCTTCACATTCAAGGAACACGCACAATAA
80338908	24332	NM_000459.4(TEK):c.2545C>T (p.Arg849Trp)	TEK	Aug 23, 2012	MedGen:C1838437,OMIM:600195,Orphanet:ORPHA2451	Multiple Cutaneous and Mucosal Venous Malformations	unknown	9	27206762	CTTAAGGCGCGCATCAAGAAGGATGGGTTACGGATGGATGCTGCCATCAAAAGAATGAAAG
267606648	33299	NM_013411.4(AK2):c.307C>T (p.Arg103Trp)	AK2	Jan 01, 2009	MedGen:C0272167,OMIM:267500,Orphanet:ORPHA33355,SNOMED CT:111584000	Reticular dysgenesis	germline	1	33021616	AAAAATGGTTTTCTTCTGGATGGCTTCCCTCGGACTGTGAGGCAGGCAGAAATGGTGGGTA
147103714	98502	NM_000182.4(HADHA):c.157C>T (p.Arg53Ter)	HADHA	Jun 02, 2017	MedGen:CN074230,OMIM:609016;MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency	germline	2	26238957	TATGGAGTCAAAGGGGATGTGGCAGTTGTTCGAATTAACTCTCCCAATTCAAAGGTATCTC
121912601	17384	NM_016341.3(PLCE1):c.1477C>T (p.Arg493Ter)	PLCE1	Dec 01, 2006	MedGen:C1853124,OMIM:610725	Nephrotic syndrome, type 3	germline	10	94132444	CTTCTCAGTACTTTTGGAGGATCCACTGGACGAATGATGCTGAAAGGTAATGCCTGAAATT
587783490	169235	NM_004380.2(CREBBP):c.4078C>T (p.Arg1360Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3740454	AATCACCCTGAAGCCGGGGAGGTTTTTGTCCGAGTGGTGGCCAGCTCAGACAAGACGGTGG
74315379	27453	NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp)	TNNT2	May 30, 2017	Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;MedGen:C1861864,OMIM:115195;MedGen:C1832243,OMIM:601494;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiomyopathy;Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	1	201364336	CGGGCAGAGCGGGCCGAGCAGCAGCGCATCCGGAATGAGCGGGAGAAGGAGCGGCAGAACC
199624796	152914	NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp)	ATP13A2	-	MedGen:C1847640,OMIM:606693,Orphanet:ORPHA306674	Parkinson disease 9	biparental;inherited	1	17004399	CTCCTCTCTCCCACCCAGAAGCGGGTGCTGCGGTATTACCTCTTCCAGGGCCAGCGCTATA
104886213	35941	NM_000495.4(COL4A5):c.3181C>T (p.Gln1061Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108626284	GGACAACCTGGCTCCCCAGGATTACCTGGACAGAAAGGCGACAAAGGTGATCCTGGTATTT
886041858	264073	NM_015025.3(MYT1L):c.1699C>T (p.Arg567Ter)	MYT1L	Jul 18, 2016	MedGen:CN517202	not provided	germline	2	1912024	GGGCATGTCAACAGCAACAGGAACTCCCACCGAAGGTAAGCCACGCGTGGGTCACTGGTGT
80338708	33997	NM_000303.2(PMM2):c.710C>T (p.Thr237Met)	PMM2	Aug 24, 2017	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002;MedGen:CN517202	Carbohydrate-deficient glycoprotein syndrome type I;not provided	germline;unknown	16	8847794	TGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTA
28939679	22550	NM_002496.3(NDUFS8):c.236C>T (p.Pro79Leu)	NDUFS8	Jul 22, 2016	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline	11	68033147	GCATGACCCTGAGCTACCTGTTCCGGGAACCGGCCACCATCAACTACCCGTTCGAGAAGGG
754391973	226531	NM_001142763.1(PCDH15):c.2986C>T (p.Arg996Ter)	PCDH15	Aug 28, 2015	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	53961790	GTGGAAGAAGATTCTGGAAGAGTAATAACACGAGTCAATCTTAATGAAGAACCTACAACAA
104894101	33302	NM_000476.2(AK1):c.382C>T (p.Arg128Trp)	AK1	Jun 15, 1989	MedGen:C2675459,OMIM:612631,Orphanet:ORPHA86817	Adenylate kinase deficiency, hemolytic anemia due to	germline	9	127868455	GTGGACGCAGGCCCTGAGACCATGACCCAGCGGCTCTTGAAACGTGGAGAGACCAGCGGGC
200561967	223315	NM_018297.3(NGLY1):c.622C>T (p.Gln208Ter)	NGLY1	Jan 07, 2016	MedGen:C3808991,OMIM:615273,Orphanet:ORPHA404454	Congenital disorder of deglycosylation	inherited	3	25751134	ATTCCGGTCCAAGAACTAAAAAGGAAATCACAAGAAAAGTTATCGAGAGCTAGAAAATTGG
-1	458293	NM_004260.3(RECQL4):c.925C>T (p.Gln309Ter)	RECQL4	Apr 21, 2017	MedGen:C0265308,OMIM:218600,Orphanet:ORPHA1225,SNOMED CT:77608001	Baller-Gerold syndrome	germline	8	144516194	CCAGGGGAACCTGTACAGGCACAGCCACCTCAGCCCTGCAGCAGCCCATCGAACCCCAGGT
-1	432100	NM_001008537.2(NEXMIF):c.964C>T (p.Arg322Ter)	NEXMIF	Sep 13, 2017	MedGen:C3806730,OMIM:300912,Orphanet:ORPHA85277	Mental retardation, X-linked 98	germline	X	74743593	ATTCGATATGAATCCTTTCAGGACAATGTTCGAGACAAGACTACTCTTTTGATGCAGGAAG
777668842	214252	NM_001134831.1(AHI1):c.1267C>T (p.Gln423Ter)	AHI1	Sep 07, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1837713,OMIM:608629;MedGen:CN517202	Joubert syndrome;Joubert syndrome 3;not provided	germline;unknown	6	135455811	TTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATT
80359210	67493	NM_000059.3(BRCA2):c.9376C>T (p.Gln3126Ter)	BRCA2	Nov 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32394808	CCTCATATGTTAATTGCTGCAAGCAACCTCCAGTGGCGACCAGAATCCAAATCAGGCCTTC
201620629	185944	NM_004608.3(TBX6):c.844C>T (p.Arg282Ter)	TBX6	Nov 15, 2015	MedGen:C1852521,OMIM:122600	Spondylocostal dysostosis 5	germline	16	30086847	TCATCATCACCACCACTGTTCCCCAGGGAGCGAGACGCCCGTGTGAAGAGGAAACTGCGGG
869312833	226507	NM_015100.3(POGZ):c.3001C>T (p.Arg1001Ter)	POGZ	Mar 23, 2016	MedGen:C4225351,OMIM:616364,Orphanet:ORPHA468678;MedGen:CN517202	White-sutton syndrome;not provided	germline	1	151406034	CAGGCAGCTGAACACTTCCGAAATCCCCAGCGACGTATTCGCCGTTGGCTTCGACGTTTCC
769896492	214064	NM_000287.3(PEX6):c.1930C>T (p.Arg644Trp)	PEX6	Oct 01, 2015	MedGen:C4225267,OMIM:616617	Heimler syndrome 2	germline	6	42966813	GATCTCTATGCCCTTCTGACCCACAGCAGCCGGGCAGCCTGCACCAGGATCAAGAACTCAG
119456964	17677	NM_153240.4(NPHP3):c.3340C>T (p.Gln1114Ter)	NPHP3	Apr 01, 2008	MedGen:C2673883,OMIM:208540,Orphanet:ORPHA294415	Renal-hepatic-pancreatic dysplasia	germline	3	132684784	TTTTGGGATTGTGTTCACAGAACAGCTGACCAGTTTCTGAAGCGTTCCTTAGAAATGAGGG
767215758	188057	NM_002485.4(NBN):c.1030C>T (p.Gln344Ter)	NBN	Sep 21, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009;MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;Microcephaly, normal intelligence and immunodeficiency;not provided	germline;maternal;paternal;unknown	8	89958819	AAGACAACAACTCCAGGACCAAGCCTTTCACAAGGCGTGTCAGTTGATGAAAAACTAATGC
397514686	57811	NM_032415.5(CARD11):c.2833C>T (p.Gln945Ter)	CARD11	May 01, 2013	MedGen:C3554686,OMIM:615206,Orphanet:ORPHA357237	Immunodeficiency 11	germline	7	2915243	CTGGACGCCACCAAGCTCTTGACTGAGAAGCAGGAAGGTACATGGGGACCGCCTGGCCCCT
104894267	31731	NM_130799.2(MEN1):c.1378C>T (p.Arg460Ter)	MEN1	Nov 23, 2016	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1;not provided	germline	11	64804789	CAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGC
80338855	34126	NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu)	DHCR7	Jun 14, 2015	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	unknown	11	71441347	TTGCAAACGCTCATCTCCTGTCCTGGTTCTCGCCCACCATCATCTTCGACAACTGGATCCC
121912759	32822	NM_000342.3(SLC4A1):c.2603C>T (p.Pro868Leu)	SLC4A1	Jul 15, 1993	MedGen:C4015904	Acanthocytosis due to band 3 ht	germline	17	44251211	CCCTGCCCTTCGTCCTCATCCTCACTGTGCCGCTGCGGCGCGTCCTGCTGCCGCTCATCTT
768090444	267496	NM_000070.2(CAPN3):c.2242C>T (p.Arg748Ter)	CAPN3	May 23, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42410645	CAGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGA
730880544	179309	NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)	MYBPC3	Sep 01, 2016	MedGen:CN517202	not provided	germline	11	47342680	ACCTTCAAATACCGGTTCAAGAAGGACGGGCAGAGACACCACCTGATCATCAACGAGGCCA
398123532	99360	NM_001005741.2(GBA):c.625C>T (p.Arg209Cys)	GBA	Jul 18, 2012	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155238270	CTGATTCACCGAGCCCTGCAGTTGGCCCAGCGTCCCGTTTCACTCCTTGCCAGCCCCTGGA
-1	440239	NM_004766.2(COPB2):c.760C>T (p.Arg254Cys)	COPB2	Dec 07, 2017	MedGen:CN677079,OMIM:617800	MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE	germline	3	139373800	GTATTTACATTGTTCTTTTTAGGAACAGTACGTATTTGGCATTCAAGCACCTACCGGCTTG
-1	485409	NM_007194.3(CHEK2):c.100C>T (p.Gln34Ter)	CHEK2	Feb 21, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	22	28734622	AGCGTTACCCAGTCCCAAGGCTCCTCCTCACAGTCCCAGGGCATATCCAGCTCCTCTACCA
72657321	240040	NM_001277115.1(DNAH11):c.4438C>T (p.Arg1480Ter)	DNAH11	Mar 22, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21620016	ACCATGAAGTTTTCTTACGAAGTTCACTATCGAACAGGCATTCCATTACTAAAGTCTGATG
370627877	267083	NM_001101426.3(ISPD):c.643C>T (p.Gln215Ter)	ISPD	Aug 19, 2015	MedGen:C3553330,OMIM:614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	germline	7	16376133	CGTGCCAGACACAGAGCAAGTGAAATGCCCCAAGCTTTTCTATTTGATGTGATTTATGAAG
28942096	18429	NM_147196.2(TMIE):c.241C>T (p.Arg81Cys)	TMIE	Sep 01, 2002	MedGen:C1832992,OMIM:600971	Deafness, autosomal recessive 6	germline	3	46709155	GTCATCACGCTGTGCTGTGTCTTCAACTGTCGTGTGCCACGGACCCGGAAGGAGATCGAAG
369384363	48460	NM_001080414.3(CCDC88C):c.934C>T (p.Arg312Ter)	CCDC88C	Dec 18, 2012	MedGen:C0020255,OMIM:236600,SNOMED CT:230745008	Hydrocephalus	germline	14	91338121	GCGGCAGACGCCCGGTCTGCTCGTGCCTATCGAGACGAGCTGGATTCCCTGCGGGAGAAGG
141577476	152364	NM_000535.6(PMS2):c.88C>T (p.Gln30Ter)	PMS2	Oct 06, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	7	6005967	CGGAAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTAAGCACTGCGGTAA
587777138	106538	NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter)	CSPP1	Jan 02, 2014	MedGen:C3810212,OMIM:615636	Joubert syndrome 21	germline	8	67158540	GAAGAAAGACGGCTTGCAGAACAGAGGGCACGAATTCAGCAGGAGTATGAAGAGGAACAGG
768384031	232143	NM_007194.3(CHEK2):c.205C>T (p.Gln69Ter)	CHEK2	Jan 05, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	22	28734517	ACACTGAGCTCCTTAGAGACAGTGTCCACTCAGGAACTCTATTCTATTCCTGAGGACCAAG
794726730	187817	NM_001165963.1(SCN1A):c.2134C>T (p.Arg712Ter)	SCN1A	Jul 14, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166042334	GACTTTCTAGAAGATCCTTCCCAAAGGCAACGAGCAATGAGTATAGCCAGCATTCTAACAA
786205703	188295	NM_001242896.1(DEPDC5):c.418C>T (p.Gln140Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31778103	AATAACTTGTGTGTGTATTCTTTCAGAGCACAGGCTGGTGAACTGTGGGTTAAGAATGAGA
104894629	21562	NM_018129.3(PNPO):c.685C>T (p.Arg229Trp)	PNPO	Apr 15, 2005	MedGen:C1864723,OMIM:610090,Orphanet:ORPHA79096	Pyridoxal 5'-phosphate-dependent epilepsy	germline	17	47946681	TGGCAAGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCCACAG
774294963	481748	NM_014845.5(FIG4):c.793C>T (p.Arg265Ter)	FIG4	Dec 26, 2017	MedGen:CN517202	not provided	germline	6	109741461	CTTGATTTCCAAGAGCTGTTGATCTATGGACGACCAGTGTATGTCACTCTAATAGCTAGAA
63750857	96471	NM_000251.2(MSH2):c.2536C>T (p.Gln846Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47480773	TTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGT
5030858	15616	NM_000277.2(PAH):c.1222C>T (p.Arg408Trp)	PAH	Aug 07, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102840493	GGTCTTAGGAACTTTGCTGCCACAATACCTCGGCCCTTCTCAGTTCGCTACGACCCATACA
768521444	444003	NM_004415.3(DSP):c.250C>T (p.Arg84Ter)	DSP	Aug 17, 2017	MedGen:CN517202	not provided	germline	6	7555797	CTGCTGCAGAACTGCTCCGACTGCTTGATGCGAGCAGAGCTCATCGTGCAGCCTGTAAGCT
886037841	244104	NM_001161563.2(TNIK):c.538C>T (p.Arg180Ter)	TNIK	Jul 26, 2016	MedGen:C4310755,OMIM:617028	Mental retardation, autosomal recessive 54	germline	3	171188803	GTGGACTTTGGAGTCAGTGCTCAGCTTGATCGAACAGTGGGCAGGAGGAATACTTTCATTG
587777872	166441	NM_017696.2(MCM9):c.394C>T (p.Arg132Ter)	MCM9	Dec 04, 2014	MedGen:C4015409,OMIM:616185,Orphanet:ORPHA444048;MedGen:C2749126,OMIM:311360	Ovarian dysgenesis 4;Premature ovarian failure 1	germline;inherited	6	118924038	CACTTTTTATCTGTCACTGGGACAGTGATTCGAACAAGTCTGGTGAAGGTTCTGGAGTTTG
121909078	22384	NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe)	RAB7A	Mar 01, 2003	MedGen:C1833219,OMIM:600882,Orphanet:ORPHA99936;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal, type 2b;not provided	germline	3	128806576	CCATTTGTTGTGTTGGGAAACAAGATTGACCTCGAAAACAGACAAGTAAGTACCAACGATG
368631447	433515	NM_001080463.1(DYNC2H1):c.10163C>T (p.Pro3388Leu)	DYNC2H1	Jun 01, 2017	MedGen:CN674505;MedGen:CN169374	Short-rib polydactyly syndrome type III;not specified	germline;maternal;paternal;unknown	11	103253384	CAACAAGAAACCCAAATCCTTTTATTCCACCGGATGCAGCTTCCATTGTTACTGAGGTTAA
776800006	446212	NM_001042472.2(ABHD12):c.874C>T (p.Arg292Ter)	ABHD12	Oct 16, 2017	MedGen:CN517202	not provided	germline	20	25306909	AAATGGTTTCCATCTTGTCTCCAGATATATCGATACTTCCCTGGGTTTGACTGGTTCTTCC
137853218	31040	NM_002890.2(RASA1):c.853C>T (p.Arg285Ter)	RASA1	May 01, 2008	MedGen:C2675370	Capillary malformation without arteriovenous malformation	germline	5	87333291	TTCTAGCCAGTAGAAGATAGAAGGCGTGTACGAGCTATTCTACCTTACACAAAAGTACCAG
876659900	233487	NM_000535.6(PMS2):c.2137C>T (p.Gln713Ter)	PMS2	Dec 27, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	5982861	ACGGACGAGAAGTATAACTTCGAGATGCTGCAGCAGCACACCGTGCTCCAGGGGCAGAGGC
104893918	19130	NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val)	SLC26A2	Feb 01, 1996	MedGen:C1850554,OMIM:256050,Orphanet:ORPHA56304	Atelosteogenesis type 2	germline	5	149981737	AAAACCTTCTCTTCTATAGTGTGTATGAAGCGATGGCTTTTGCAGAAGTATCTAAAAATCA
61755806	28203	NM_000322.4(PRPH2):c.647C>T (p.Pro216Leu)	PRPH2	May 20, 2015	MedGen:C1842475,OMIM:608133;MedGen:CN517202	Retinitis pigmentosa 7;not provided	germline	6	42704546	TGGACGGCGTCCCTTTCAGCTGCTGCAATCCTAGCTCGCCACGGCCCTGCATCCAGTATCA
80356683	29594	NM_005562.2(LAMC2):c.283C>T (p.Arg95Ter)	LAMC2	Jun 06, 2015	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006	Junctional epidermolysis bullosa gravis of Herlitz	germline;unknown	1	183215467	ACCTTGTGGGTTTCAGGTTCTCTTAGTGCTCGATGTGACAACTCCGGACGGTGCAGCTGTA
398123126	98273	NM_000048.3(ASL):c.544C>T (p.Arg182Ter)	ASL	Mar 28, 2017	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004;MedGen:CN517202	Argininosuccinate lyase deficiency;not provided	germline	7	66086763	GCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGA
180177356	71289	NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter)	VPS13B	May 26, 2015	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99156609	TTCCAGTCTCTTCGGCCTTTGCCATCCATTCGAATATTGGTGGATAAAATTAATCTGGAAC
121913618	29178	NM_002470.3(MYH3):c.2014C>T (p.Arg672Cys)	MYH3	May 01, 2006	MedGen:C0265224,OMIM:193700,SNOMED CT:52616002	Freeman-Sheldon syndrome	germline	17	10641318	AATTTAAGAACTACTCACCCTCATTTTGTGCGTTGTATAATTCCCAATGAAACCAAAACTC
886043247	270133	NM_000321.2(RB1):c.1510C>T (p.Gln504Ter)	RB1	Jan 28, 2016	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	germline	13	48381258	TTTTTTTTTTCATTTTTAGGAAGTACATCTCAGAATCTTGATTCTGGAACAGATTTGTCTT
1064793000	404656	NM_015318.3(ARHGEF18):c.1522C>T (p.Arg508Ter)	ARHGEF18	Apr 07, 2017	MedGen:CN241844,OMIM:617433	Retinitis pigmentosa 78	germline	19	7462259	ATGGGCGGCCTCGAAGACCTGCCCCAGCCCCGAGGCCTATTCCGTGGAGGGGACCCATCCG
281860290	46969	NM_018713.2(SLC30A10):c.922C>T (p.Gln308Ter)	SLC30A10	Aug 30, 2012	OMIM:613280	Hypermanganesemia with dystonia 1	not provided	1	219918291	CTTATCAAGGAGACCGCTGCCATTCTGCTACAGATGGTCCCAAAAGGAGTCAACATGGAAG
587777876	165480	NM_000166.5(GJB1):c.77C>T (p.Ser26Leu)	GJB1	Dec 30, 2016	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71223784	ATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCT
11570112	179222	NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)	MYBPC3	Apr 21, 2014	MedGen:CN517202	not provided	germline	11	47333924	GGGGAGCCTGTGAACCTTCTCATCCCTTTCCAGGTGGGACTGGCCCCCTTCCCTGTCCCCC
121909063	22061	NM_005422.2(TECTA):c.5668C>T (p.Arg1890Cys)	TECTA	Jun 01, 2006	MedGen:C1832187,OMIM:601543	Deafness, autosomal dominant 12	germline	11	121168135	AACAACACTGGCAACATCATCACCAGGGACCGCACGATCAATGTGGAATTTTCATGTGCTT
876661305	188288	NM_002582.3(PARN):c.529C>T (p.Gln177Ter)	PARN	May 01, 2015	MedGen:C4225347,OMIM:616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	germline	16	14610669	TCAAAATGTCCTGTCACGATTCCTGAGGATCAAAAGAAGTTTATTGACCAAGTGGTGTAAG
863224993	213868	NM_004006.2(DMD):c.3427C>T (p.Gln1143Ter)	DMD	Jun 30, 2012	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32463444	GAACTTAACACTCAGTGGGATCACATGTGCCAACAGGTATAGACAATCTCTTTCACTGTGG
191295403	422115	NM_000303.2(PMM2):c.367C>T (p.Arg123Ter)	PMM2	May 01, 2017	MedGen:CN517202	not provided	germline	16	8811098	TTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTG
1057524677	375928	NM_001170629.1(CHD8):c.1690C>T (p.Arg564Ter)	CHD8	Apr 30, 2017	MedGen:CN517202	not provided	germline	14	21426154	GATGTGGAAGTCATGCCTGCACAGTCACCTCGAGAAGATGAAGAAAGCAGCATTCAGGTAA
80359159	46763	NM_000059.3(BRCA2):c.9076C>T (p.Gln3026Ter)	BRCA2	Apr 18, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32379872	TCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATC
771961377	186639	NM_000642.2(AGL):c.118C>T (p.Gln40Ter)	AGL	Sep 22, 2017	MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008;MedGen:CN517202	Glycogen storage disease type III;not provided	germline;unknown	1	99861538	GAGCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATT
80356771	19334	NM_000157.3(GBA):c.1504C>T (p.Arg502Cys)	GBA	Aug 25, 2017	MedGen:C0268250,OMIM:230900,Orphanet:ORPHA77260,SNOMED CT:12246008;MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:C3160718,OMIM:168600,SNOMED CT:49049000;MedGen:C0268251,OMIM:231000,Orphanet:ORPHA77261,SNOMED CT:5963005;MedGen:CN517202	Acute neuronopathic Gaucher's disease;Gaucher disease;Gaucher's disease, type 1;Parkinson disease, late-onset;Subacute neuronopathic Gaucher's disease;not provided	germline;unknown	1	155235196	GATGGCTCTGCTGTTGTGGTCGTGCTAAACCGGTGAGGGCAATGGTGAGGTCTGGGAAGTG
104893804	27859	NM_003106.3(SOX2):c.163C>T (p.Gln55Ter)	SOX2	May 01, 2006	MedGen:C1859773,OMIM:206900,Orphanet:ORPHA77298	Microphthalmia syndromic 3	germline	3	181712523	ATGAATGCCTTCATGGTGTGGTCCCGCGGGCAGCGGCGCAAGATGGCCCAGGAGAACCCCA
866242631	259918	NM_020822.2(KCNT1):c.1420C>T (p.Arg474Cys)	KCNT1	Jul 03, 2017	MedGen:CN517202	not provided	germline	9	135768847	CCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCA
1064796919	409348	NM_001145358.1(SIN3A):c.2689C>T (p.Arg897Ter)	SIN3A	Mar 16, 2017	MedGen:CN517202	not provided	germline	15	75392404	TATGTCAACAACAACTGGTATATTTTTATGCGACTGCACCAGATTCTCTGCCTGAGGCTGC
104894061	16212	NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met)	CYP11B1	Jul 01, 2009	MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007	Deficiency of steroid 11-beta-monooxygenase	germline	8	142876242	CTATGGAACTCACTGCAGGGAGCGTGGACACGGTCAGGCCGGCAACCAGCCCCACCCAGAG
387907115	40077	NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu)	NBEAL2	Jul 17, 2011	MedGen:C0272302,OMIM:139090,SNOMED CT:51720005	Gray platelet syndrome	germline	3	47004976	CAGCCCCTGCTCGGGTGGGTGGCCAGTTCCCCTGGGTCCTGCAGGACTACGTGTCCCCAAC
-1	481214	NM_017780.3(CHD7):c.2440C>T (p.Gln814Ter)	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	maternal	8	60801591	AAAATTATGAGCAGTCGTTCAGTAAAAAAGCAGGTGAGTGCCATTGGAGCCATTAAAATCT
281875329	38544	NM_001614.3(ACTG1):c.766C>T (p.Arg256Trp)	ACTG1	Dec 02, 2015	MedGen:C3281235,OMIM:614583;MedGen:CN517202	Baraitser-Winter Syndrome 2;not provided	germline	17	81511224	CAGGTCATCACCATTGGCAATGAGCGGTTCCGGTGTCCGGAGGCGCTGTTCCAGCCTTCCT
137852614	24505	NM_000211.4(ITGB2):c.533C>T (p.Pro178Leu)	ITGB2	Mar 15, 1992	MedGen:C0272187	Leukocyte adhesion deficiency	germline	21	44901700	TCGGGTCCTTCGTGGACAAGACCGTGCTGCCGTTCGTGAACACGCACCCTGATAAGCTGCG
-1	434925	NM_000944.4(PPP3CA):c.1333C>T (p.Gln445Ter)	PPP3CA	Jan 22, 2018	MedGen:CN547334,OMIM:617711	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	germline	4	101032273	GGAGTACTTTCTGGAGGGAAGCAAACCCTGCAAAGCGGTAAGCAGGCTGATGGGTATGACT
80358763	66524	NM_000059.3(BRCA2):c.5404C>T (p.Gln1802Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32339759	TCCAATGTAAAAGATGCAAATGCATACCCACAAACTGTAAATGAAGATATTTGCGTTGAGG
769116796	432403	NM_003506.3(FZD6):c.346C>T (p.Arg116Ter)	FZD6	Nov 24, 2017	MedGen:CN865585;MedGen:CN517202	Wilms Tumor;not provided	germline;somatic	8	103318758	TGCAAAAAATTAATTGACACTTTTGGGATCCGATGGCCTGAGGAGCTTGAATGTGACAGGT
587777327	132613	NM_001080517.2(SETD5):c.3001C>T (p.Arg1001Ter)	SETD5	Apr 03, 2014	MedGen:C3810406,OMIM:615761,Orphanet:ORPHA404440	Mental retardation, autosomal dominant 23	germline	3	9470735	AATGCTATGCCTCGAGCAGATGGACTGTATCGAGGATCTCCTCTAGTGGGGGATAGGAAGC
121918600	27996	NM_001035.2(RYR2):c.13489C>T (p.Arg4497Cys)	RYR2	Apr 27, 2017	MedGen:C1631597,Orphanet:ORPHA3286;MedGen:C4053736,OMIM:604772;MedGen:CN517202	Catecholaminergic polymorphic ventricular tachycardia;Catecholaminergic polymorphic ventricular tachycardia type 1;not provided	germline	1	237791441	AATGTTTTTCACCCTCAGAACTATTTTGCTCGCAACTTTTACAACATGAGAATGTTAGCCT
121434306	16863	NM_005767.5(LPAR6):c.463C>T (p.Gln155Ter)	LPAR6	Mar 01, 2008	MedGen:C1848435,OMIM:278150	Hypotrichosis 8	germline	13	48411961	ATCGGAGGAAGTGCACCCGCCGTTTTTGTTCAGTCTACCCACTCTCAGGGTAACAATGCCT
863223532	209960	NM_000118.3(ENG):c.247C>T (p.Gln83Ter)	ENG	Aug 26, 2014	MedGen:CN517202	not provided	germline	9	127829800	CAGGGCCCGTCACAGCTGGAGCTGACTCTCCAGGCATCCAAGCAAAATGGCACCTGGCCCC
121908006	18874	NM_000017.3(ACADS):c.973C>T (p.Arg325Trp)	ACADS	Aug 03, 2017	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007;MedGen:CN517202	Deficiency of butyryl-CoA dehydrogenase;not provided	germline	12	120738859	GCAGACATGGCCCTGGCCCTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCATGCTGA
727503861	177254	NM_017780.3(CHD7):c.1369C>T (p.Gln457Ter)	CHD7	Dec 11, 2013	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60742801	CAGAGGAATATGGGCCCCAGAAACATGCAGCAGTCTCGTCCATTTATAGGCATGTCCTCGG
587776415	153696	NM_024675.3(PALB2):c.2074C>T (p.Gln692Ter)	PALB2	Aug 28, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	16	23630080	TCACATCCCAAAAGGCCAAACTCGCAAAGCCAGCATACAAAGACGGGCCTTTCTTCATCCA
121913331	239564	NM_000038.5(APC):c.3340C>T (p.Arg1114Ter)	APC	Jun 13, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MeSH:D015179,MedGen:CN236642;MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Adenocarcinoma of lung;Colorectal Neoplasms;Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline;somatic	5	112838934	TCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAA
121917929	79397	NM_006920.4(SCN1A):c.1177C>T (p.Arg393Cys)	SCN1A	Aug 11, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	germline;unknown	2	166046970	TAATTCTGATATTTTTGTTTGCAGACATTACGTGCTGCTGGGAAAACGTACATGATATTTT
193929374	33928	NM_000162.3(GCK):c.1133C>T (p.Ala378Val)	GCK	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	7	44145617	GCCGCGCCTGCGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGGG
766169193	373190	NM_013382.5(POMT2):c.1762C>T (p.Arg588Ter)	POMT2	Jan 11, 2017	MedGen:CN517202	not provided	germline	14	77280044	CGCTTCTCAGGGGTCAATGACACAGATTTCCGAGTCTATCTGCTTGGCAACCCGGTGAGTG
76353203	32943	NM_000040.2(APOC3):c.55C>T (p.Arg19Ter)	APOC3	Jun 12, 2015	MedGen:C0010068;MedGen:C3151467,OMIM:614028;MedGen:CN517202	Coronary heart disease;Hyperalphalipoproteinemia 2;not provided	germline	11	116830637	GTTGCCCTCCTGGCGCTCCTGGCCTCTGCCCGTAAGCACTTGGTGGGACTGGGCTGGGGGC
769327864	193658	NM_001276378.1(LZTFL1):c.271C>T (p.Arg91Ter)	LZTFL1	Feb 12, 2015	MedGen:C3714980,OMIM:615994	Bardet-Biedl syndrome 17	germline	3	45835591	CTACAGACAGACATCTCTGAACTTGAAAACCGGTAATAAAATTTGAACTTGCAACTGTGAC
751517725	214288	NM_153704.5(TMEM67):c.2290C>T (p.Arg764Ter)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93803652	TTTTATGAGAGATTTATAGAAGATAAAATTCGACAGTTCGTTGATTTATGCTCTATGAGTA
781371665	481844	NM_000368.4(TSC1):c.2380C>T (p.Gln794Ter)	TSC1	Jan 10, 2018	MedGen:CN517202	not provided	germline	9	132902616	CATGACCGAGAGGAATTCTACAACCAGAGCCAGGAATTACAGGTATAAACTGCAGCACCAG
878854417	243879	NM_020760.3(HECW2):c.3988C>T (p.Arg1330Trp)	HECW2	Jan 10, 2018	MedGen:C4310643,OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	germline	2	196225800	CACCAGTATTTGTTGGATGCCTTCTTCACACGGCCCTTTTATAAGGCTCTTCTCAGAATGT
121434545	32654	NM_000070.2(CAPN3):c.328C>T (p.Arg110Ter)	CAPN3	Apr 07, 1995	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42384501	TTTGTTTCACAGGAAATTTGCGAGAATCCCCGATTTATCATTGATGGAGCCAACAGAACTG
750831299	211549	NM_007103.3(NDUFV1):c.365C>T (p.Pro122Leu)	NDUFV1	Mar 26, 2013	MedGen:CN517202	not provided	germline	11	67609490	ATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACG
121908661	21308	NM_002335.3(LRP5):c.1282C>T (p.Arg428Ter)	LRP5	Nov 16, 2001	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68386582	CCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGG
1085307466	415621	NM_000455.4(STK11):c.904C>T (p.Gln302Ter)	STK11	May 02, 2017	MedGen:CN517202	not provided	germline	19	1221990	TACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTG
606231153	19946	NM_022458.3(LMBR1):c.423+4909C>T	LMBR1	Jul 01, 2009	MedGen:C1868114,OMIM:174500,Orphanet:ORPHA93336	Polydactyly, preaxial II	germline	7	156791480	TCCCTTTTGGCAAACTTACATAAAAGTGACCTTGTACTGTATTTTATGACCAGATGACTTT
779422412	410166	NM_000789.3(ACE):c.412C>T (p.Gln138Ter)	ACE	Mar 10, 2017	MedGen:CN517202	not provided	germline	17	63478093	GGCTCTGCCAACCTGCCCCTGGCTAAGCGGCAGCAGGTGGGCTGAGGGCTGAGGCAGAGCT
72558435	103197	NM_000531.5(OTC):c.725C>T (p.Thr242Ile)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408883	ACCAGCGTGTTTATGTATGCTAGAATGGTACCAAGCTGTTGCTGACAAATGATCCATTGGA
397516894	53977	NM_004333.4(BRAF):c.1720C>T (p.His574Tyr)	BRAF	Apr 02, 2013	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008	Cardio-facio-cutaneous syndrome	germline	7	140754208	TTCAGTTACTTACACGCCAAGTCAATCATCCACAGAGACCTCAAGAGTAATAGTATCCTTC
72653703	426925	NM_001171.5(ABCC6):c.2524C>T (p.Gln842Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16177518	GCAGAGATGGGTTCCTACCAGGAGCTTCTGCAGAGGAAGGGGGCCCTCATGTGTCTTCTGG
397509338	70425	NM_007294.3(BRCA1):c.928C>T (p.Gln310Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43094603	GAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAACA
886041411	264537	NM_020529.2(NFKBIA):c.25C>T (p.Gln9Ter)	NFKBIA	Mar 12, 2016	MedGen:CN517202	not provided	germline	14	35404620	CGCGCCATGTTCCAGGCGGCCGAGCGCCCCCAGGAGTGGGCCATGGAGGGCCCCCGCGACG
772468452	454545	NM_005732.3(RAD50):c.2116C>T (p.Arg706Ter)	RAD50	Jun 05, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132595719	GAAGTCATCAGTGATTTGCAGTCTAAACTGCGACTTGCTCCAGATAAACTCAAGTCAACAG
119481076	19914	NM_000197.1(HSD17B3):c.608C>T (p.Ala203Val)	HSD17B3	Jan 23, 2015	MedGen:C0033804;MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006	Pseudohermaphroditism;Testosterone 17-beta-dehydrogenase deficiency	germline	9	96244393	GCCTCAGGTGTCTCTCCTTCTTGCTCCAGGCGTTTGTGTGCGCATTTTCCAAGGCCCTGCA
267607095	33445	NM_024592.4(SRD5A3):c.424C>T (p.Arg142Ter)	SRD5A3	Jul 23, 2010	MedGen:C3150191,OMIM:612379,Orphanet:ORPHA324737	Congenital disorder of glycosylation type 1Q	germline	4	55364133	GTGCTAGTATTTCTGTGGCTGCACAGCTTACGAAGACTCTTCGAGTGCCTCTACGTCAGTG
121913598	29224	NM_000530.7(MPZ):c.131C>T (p.Ser44Phe)	MPZ	Mar 26, 2015	MedGen:C1843251,OMIM:607677;MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease type 2I;Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161307361	CCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTC
755253527	390687	NM_000152.4(GAA):c.1082C>T (p.Pro361Leu)	GAA	Oct 06, 2016	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80108495	CATGAAGTCGGCGTTGGCCTGCAGGATACCCGTTCATGCCGCCATACTGGGGCCTGGGCTT
587777451	141333	NM_022068.3(PIEZO2):c.8056C>T (p.Arg2686Cys)	PIEZO2	Jun 04, 2014	MedGen:C0796033,OMIM:248700,Orphanet:ORPHA2461	Marden-Walker syndrome	de novo;germline	18	10671730	TCAGTTGTCCTTGTGATTGGGAAATTTGTCCGTGAATTCTTCAGTGGGATTTCTCACTCCA
386833986	71189	NM_007035.3(KERA):c.835C>T (p.Arg279Ter)	KERA	Apr 21, 2016	MedGen:C1857574,OMIM:217300	Cornea plana 2	germline	12	91055447	CTGTCGCACAATCAACTCACAAAGGTTCCCCGAATCAGTGCTCATCTGCAGCACCTTCACC
397514665	48772	NM_002335.3(LRP5):c.731C>T (p.Thr244Met)	LRP5	Mar 14, 2013	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68363791	AGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGA
587777662	153792	NM_001288767.1(ARMC5):c.2062C>T (p.Arg688Trp)	ARMC5	Jun 06, 2014	MedGen:C4014803,OMIM:615954	Acth-independent macronodular adrenal hyperplasia 2	germline	16	31464800	TTCGTGCGCAGCTATGGCGCGGCGCTGCTGCGGGCCTGGCTGGTGCTGGGGGTGGCGCCTG
587779139	96384	NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter)	MSH2	Apr 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	2	47476513	ATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTG
869312955	226901	NM_006772.2(SYNGAP1):c.3718C>T (p.Arg1240Ter)	SYNGAP1	Oct 01, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	6	33446710	ACCAGCAAAATCCTGATGCAGTATCAGGCCCGACTGGAGCAGAGTGAGAAGAGGCTAAGGC
137854588	25962	NM_000397.3(CYBB):c.217C>T (p.Arg73Ter)	CYBB	Apr 07, 2016	MedGen:C1844376,OMIM:306400;MedGen:CN517202	Chronic granulomatous disease, X-linked;not provided	germline	X	37783565	AACTGCATGCTGATTCTCTTGCCAGTCTGTCGAAATCTGCTGTCCTTCCTCAGGGGTTCCA
886042478	267020	NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu)	CAPN3	Apr 04, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42360050	AAGTTCTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAA
104894391	31679	NM_000115.4(EDNRB):c.601C>T (p.Arg201Ter)	EDNRB	Mar 15, 2002	MedGen:C1838099,OMIM:600501	ABCD syndrome	germline	13	77903356	AAATACAATTCTATTTTTATCTTCAGATATCGAGCTGTTGCTTCTTGGAGTAGAATTAAAG
72554640	209229	NM_000052.6(ATP7A):c.1933C>T (p.Arg645Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78011239	GATCGGTCAGCAAGTCACTTAGATCATAAACGAGAAATAAGACAGTAAGTACTTTGGAGTG
387907274	45746	NM_004960.3(FUS):c.868C>T (p.Gln290Ter)	FUS	Aug 10, 2012	MedGen:C3539195,OMIM:614782	Tremor, hereditary essential, 4	germline	16	31189158	GATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGT
1057520647	378193	NM_000167.5(GK):c.514C>T (p.Arg172Ter)	GK	Apr 15, 2015	MedGen:CN517202	not provided	germline	X	30694499	AGAAAAGTTCAAAAGGCCGTTGAAGAAAAACGAGCTCTTTTTGGGACTATTGATTCATGGC
748010262	185680	NM_030813.5(CLPB):c.1772C>T (p.Ala591Val)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72294125	CAGGCATGCTTCTATCTGACCCATCTCAGGCCAAGCAAAGGCACAACATCACGCTGCTCTG
587777302	132073	NM_199189.2(MATR3):c.460C>T (p.Pro154Ser)	MATR3	Mar 30, 2014	MedGen:C3807521,OMIM:606070	Amyotrophic lateral sclerosis 21	germline	5	139307875	CAGCTTAAAAGGAGGAGAACTGAAGAAGGCCCTACCTTGAGTTATGGTAGAGATGGCAGAT
794729144	198196	NM_001134363.2(RBM20):c.1183C>T (p.Gln395Ter)	RBM20	Oct 27, 2014	MedGen:CN517202	not provided	germline	10	110781792	GACCAGGCGTTGCTATCTGTGCGGCCCCTGCAGGCTCATGAGCTGAACGACTTTCACGGTG
145192716	361787	NM_016011.3(MECR):c.772C>T	MECR	Jan 07, 2017	MedGen:C4310634,OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	germline	1	29200574	TTTGTTGTTTTCCAGGACATGCCCCAGCCACGGCTTGCTCTCAACTGTGTTGGTGGGAAAA
794726760	187726	NM_001165963.1(SCN1A):c.4997C>T (p.Ser1666Phe)	SCN1A	Jan 01, 2018	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	165992278	TCCGCACGCTGCTCTTTGCTTTGATGATGTCCCTTCCTGCGTTGTTTAACATCGGCCTCCT
199690076	195771	NM_001177317.1(SLC34A3):c.575C>T (p.Ser192Leu)	SLC34A3	Sep 30, 2017	MedGen:C0342645,OMIM:241530,SNOMED CT:237891005	Autosomal recessive hypophosphatemic bone disease	germline;maternal	9	137233223	CTCTCTGCGGCCACAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCAC
727503940	259817	NM_000806.5(GABRA1):c.640C>T (p.Arg214Cys)	GABRA1	Mar 10, 2015	MedGen:CN517202	not provided	germline	5	161882638	CGCTCAGTGGTTGTAGCAGAAGATGGATCACGTCTAAACCAGTATGACCTTCTTGGACAAA
104886207	35929	NM_000495.4(COL4A5):c.3046C>T (p.Gln1016Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108625734	GGTCCCAAAGGTAACCCTGGTCTCCCTGGACAGCCAGGTCTTATAGGACCTCCTGGACTTA
587777448	141327	NM_022168.3(IFIH1):c.2335C>T (p.Arg779Cys)	IFIH1	Jan 05, 2016	MedGen:C3888244,OMIM:615846;MedGen:CN517202	Aicardi-goutieres syndrome 7;not provided	germline	2	162273914	AATGAACAAAAAGAAGTCATTAGTAAATTTCGCACTGGAAAAATAAATCTGCTTATCGCTA
121964890	27255	NM_000490.4(AVP):c.260C>T (p.Ser87Phe)	AVP	Nov 01, 1998	Human Phenotype Ontology:HP:0000863,MedGen:C0687720,OMIM:125700,Orphanet:ORPHA178029,SNOMED CT:45369008	Neurohypophyseal diabetes insipidus	germline	20	3083039	AGGAGAACTACCTGCCGTCGCCCTGCCAGTCCGGCCAGAAGGCGTGCGGGAGCGGGGGCCG
780441716	410863	NM_001396.4(DYRK1A):c.691C>T (p.Arg231Ter)	DYRK1A	Feb 14, 2017	MedGen:CN517202	not provided	germline	21	37490201	TCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGC
758543580	361216	NM_207036.1(TCF12):c.1876C>T (p.Arg626Ter)	TCF12	May 01, 2016	MedGen:C3715051,OMIM:615314	Craniosynostosis 3	paternal	15	57273160	GATATTAATGAAGCATTCAAAGAGCTTGGCCGAATGTGTCAGCTTCACTTGAAGAGTGAAA
137852852	17714	NM_182760.3(SUMF1):c.1033C>T (p.Arg345Cys)	SUMF1	Mar 01, 2011	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003	Multiple sulfatase deficiency	germline	3	4362236	CTCTCTACACAGTCTTATTGTTACAGGTATCGCTGTGCTGCTCGGAGCCAGAACACACCTG
397514510	48076	NM_001567.3(INPPL1):c.1975C>T (p.Pro659Ser)	INPPL1	Feb 04, 2013	MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:254068007	Opsismodysplasia	germline	11	72233098	TCCTTAGGTGAGGAGGAGATCTCCTTCCCACCCACCTACCGCTATGAGCGGGGTTCCCGGG
-1	470871	NM_033453.3(ITPA):c.304C>T (p.Gln102Ter)	ITPA	Aug 09, 2017	MedGen:C1840173,OMIM:613850	Inosine triphosphatase deficiency	germline	20	3218525	AGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAG
104894023	29026	NM_000230.2(LEP):c.313C>T (p.Arg105Trp)	LEP	Mar 30, 2004	MedGen:C3554224,OMIM:614962,Orphanet:ORPHA66628	Leptin deficiency or dysfunction	germline	7	128254572	ATCCAAATATCCAACGACCTGGAGAACCTCCGGGATCTTCTTCACGTGCTGGCCTTCTCTA
1085307500	414831	NM_021007.2(SCN2A):c.3703C>T (p.Arg1235Ter)	SCN2A	Apr 26, 2017	MedGen:CN517202	not provided	germline	2	165370153	CAGGCCTTTGAAGATATATACATTGAGCAGCGAAAAACCATTAAGACCATGTTAGAATATG
1057518907	361065	NM_001077488.3(GNAS):c.85C>T (p.Gln29Ter)	GNAS	May 29, 2014	Human Phenotype Ontology:HP:0001156,MedGen:CN001088;Human Phenotype Ontology:HP:0100543,MedGen:C0683322;Human Phenotype Ontology:HP:0002901,MedGen:C0020598;Human Phenotype Ontology:HP:0001513,MedGen:C1963185;Human Phenotype Ontology:HP:0000311,MedGen:C1856468;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Human Phenotype Ontology:HP:0001482,MedGen:C0151811;Human Phenotype Ontology:HP:0001281,MedGen:C0039621	Brachydactyly syndrome;Cognitive impairment;Hypocalcemia;Obesity;Round face;Short stature;Subcutaneous nodule;Tetany	unknown	20	58891811	CAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGG
144023803	359454	NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter)	COL7A1	Aug 30, 2017	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;MedGen:CN517202	Recessive dystrophic epidermolysis bullosa;not provided	germline;maternal	3	48590721	GGGCTTAGCTACACTGTGCGGGTGTCTGCTCGAGTGGGTCCCCGTGAGGGCAGTGCCAGTG
387906619	38628	NM_000791.3(DHFR):c.238C>T (p.Leu80Phe)	DHFR	Feb 11, 2011	MedGen:C3151205,OMIM:613839,Orphanet:ORPHA319651	Megaloblastic anemia due to dihydrofolate reductase deficiency	germline	5	80649393	GGTAGAATTAATTTAGTTCTCAGCAGAGAACTCAAGTAAGTACCTTAACATAAATTCACCA
387906938	39533	NM_014762.3(DHCR24):c.307C>T (p.Arg103Cys)	DHCR24	Sep 01, 2011	MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107	Desmosterolosis	germline	1	54883698	GGGCGCCCTGGCTGGCTCACTGTCTCACTACGTGTCGGGAAGTACAAGAAGACACACAAAA
121913327	15840	NM_000038.5(APC):c.4012C>T (p.Gln1338Ter)	APC	Mar 22, 2016	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;MeSH:D015179,MedGen:CN236642;MedGen:C2713442,OMIM:175100	Carcinoma of colon;Colorectal Neoplasms;Familial adenomatous polyposis 1	germline;somatic;unknown	5	112839606	CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCA
80357260	69792	NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter)	BRCA1	Jul 24, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43090946	CTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATG
121912603	17387	NM_016341.3(PLCE1):c.4846C>T (p.Gln1616Ter)	PLCE1	Dec 01, 2006	MedGen:C1853124,OMIM:610725	Nephrotic syndrome, type 3	germline	10	94283840	CCTGAAAATAAATCATGTAATGACAAGCTTCAGTTTGAATATAATGAAGAAATCCCAAAGA
-1	439900	NM_000441.1(SLC26A4):c.226C>T (p.Pro76Ser)	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791	Enlarged vestibular aqueduct	germline	7	107663357	AAGACTCTTGTGCCCATCTTGGAGTGGCTCCCCAAATACCGAGTCAAGGAATGGCTGCTTA
80358429	65789	NM_000059.3(BRCA2):c.1414C>T (p.Gln472Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32332892	GAAACAGTGGTAAATAAGAGAGATGAAGAGCAGCATCTTGAATCTCATACAGACTGCATTC
587777089	102940	NM_014754.2(PTDSS1):c.805C>T (p.Pro269Ser)	PTDSS1	Jan 01, 2014	MedGen:C0432269,OMIM:151050,Orphanet:ORPHA2658,SNOMED CT:1393001	Lenz-Majewski hyperostosis syndrome	germline	8	96304092	AAGATCAAGAGAGCTGTTCTGCAGTTCACTCCTGCTAGCTGGACCTATGTTCGATGGTTTG
869320709	227146	NM_000409.4(GUCA1A):c.250C>T (p.Leu84Phe)	GUCA1A	Apr 12, 2016	MedGen:C1865869,OMIM:602093	Cone dystrophy 3	germline	6	42178328	ATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCT
368790049	76721	NM_194248.2(OTOF):c.5815C>T (p.Arg1939Trp)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26460204	CTCTGCGCTCTCTACCCTTCATACTCCAGCCGGCCCGACACGAGCTTCATCTGGTTCCTGA
587776931	48264	NM_020699.3(GATAD2B):c.1408C>T (p.Gln470Ter)	GATAD2B	Nov 15, 2012	MedGen:C3554448,OMIM:615074,Orphanet:ORPHA363686	Mental retardation, autosomal dominant 18	germline	1	153813261	CGGCTGAAAAATGCATTTGTGAAAGCCCTACAGCAGGAACAGGTAAGAATTCTGACTGCTC
121912876	32407	NM_001844.4(COL2A1):c.823C>T (p.Arg275Cys)	COL2A1	Oct 01, 2009	MedGen:C1836683,OMIM:609162,Orphanet:ORPHA137678	Czech dysplasia metatarsal type	germline	12	47994041	GAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTG
121908464	20870	NM_005682.6(ADGRG1):c.1693C>T (p.Arg565Trp)	ADGRG1	Sep 27, 2016	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070;MedGen:CN517202	Polymicrogyria, bilateral frontoparietal;not provided	germline	16	57661707	CCTCCTGCCTTTGCCCGCAGGTGCTGGATCCGGGACTCCCTGGTCAGCTACATCACCAACC
1060505021	404633	NM_000368.4(TSC1):c.610C>T (p.Arg204Cys)	TSC1	Apr 11, 2017	MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994	Focal cortical dysplasia type II	somatic	9	132921872	ATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAAGAAAACCTGG
753101269	268035	NM_001277115.1(DNAH11):c.9706C>T (p.Arg3236Ter)	DNAH11	Oct 08, 2015	MedGen:C2678473,OMIM:611884	Ciliary dyskinesia, primary, 7	germline	7	21786732	CTGGCTCCTCGGGGAAGAGTGCCCAAAGACCGAAGTTGGAAAGCAGCTAAAGTCTTCATGG
118203542	57958	NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter)	TSC1	May 18, 2017	MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994;MedGen:C0751674,OMIM:606690,Orphanet:ORPHA538,SNOMED CT:73017001;MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009;MedGen:C1854465,OMIM:191100;MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Focal cortical dysplasia type II;Lymphangiomyomatosis;Malignant tumor of urinary bladder;Tuberous sclerosis 1;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	germline;unknown	9	132906053	CCTCGAGGAGGCTTTGACTCTCCCTTTTACCGAGACAGTCTCCCAGGTTCTCAGCGGAAGA
727503762	150326	NM_031229.3(RBCK1):c.553C>T (p.Gln185Ter)	RBCK1	Dec 01, 2012	MedGen:C4014605,OMIM:615895,Orphanet:ORPHA397937	Polyglucosan body myopathy 1 with or without immunodeficiency	germline	20	419439	CCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCGG
886039523	259900	NM_017780.3(CHD7):c.151C>T (p.Gln51Ter)	CHD7	Jun 15, 2016	MedGen:CN517202	not provided	germline	8	60741583	ATGCCAATAGACCAAGGCTTTGCCTCTTTACAGCCATCCCTTCATCATCCTTCAACTAATC
387906862	39319	NM_002420.5(TRPM1):c.1870C>T (p.Arg624Cys)	TRPM1	Mar 18, 2016	MedGen:C2750747,OMIM:613216	Congenital stationary night blindness, type 1C	germline	15	31042102	GAGCTGATGGTGTGGGCAGTGCTGATGAAACGCCAGAAAATGGCAGTGTTCCTCTGGCAGC
749633059	264774	NM_004782.3(SNAP29):c.85C>T (p.Arg29Ter)	SNAP29	Sep 01, 2016	MedGen:CN517202	not provided	germline	22	20859195	GGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCG
766090540	263991	NM_015284.3(SZT2):c.4225C>T (p.Arg1409Ter)	SZT2	Mar 04, 2016	MedGen:CN517202	not provided	germline	1	43430098	TACTTCTTCTATTGCCCTCCATCCAGCAGGCGAGAAGTGAGTGGCTCTCTTCCTTACCTCT
121912821	32551	NM_020549.4(CHAT):c.1493C>T (p.Ser498Leu)	CHAT	Feb 13, 2001	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49649618	CCCCGGAAATTCAAGGCCACTTAGCCTCCTCGGCAGAAAAACTTCAACGGTAAGGATAACC
201196733	268974	NM_031885.3(BBS2):c.1864C>T (p.Arg622Ter)	BBS2	Jun 27, 2017	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C2936863,OMIM:615981;MedGen:CN517202	Bardet-Biedl syndrome;Bardet-Biedl syndrome 2;not provided	germline;unknown	16	56497013	GCTGATATGGCTGATCATTCTAATTTGATCCGAAGTTTGCTGGTCGGAGCTGAGGATGCTC
28941785	17978	NM_001902.5(CTH):c.200C>T (p.Thr67Ile)	CTH	Jun 14, 2016	MedGen:C0220993,OMIM:219500,Orphanet:ORPHA212,SNOMED CT:13003007	Cystathioninuria	germline	1	70415987	GTTTTGAATATAGCCGTTCTGGAAATCCCACTAGGAATTGCCTTGAAAAAGCAGTGGCAGC
201714423	441051	NM_000083.2(CLCN1):c.1129C>T (p.Arg377Ter)	CLCN1	Oct 31, 2016	MedGen:CN517202	not provided	germline	7	143331615	TATCTGCATCGCCAAGTCATGCTCGGTGTCCGAAAGCACAAGGCCCTCAGCCAGTTTCTTG
397514874	75759	NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter)	TSC1	Aug 31, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	9	132903731	AACCAGTTACTCTATGAGCGTTTTAAGAGGCAGCAGCATGCCCTCCGGAACAGGCGGCTCC
201967266	246148	NM_000527.4(LDLR):c.1420C>T (p.Gln474Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113596	TCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGA
104894787	26252	NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter)	DMD	Oct 25, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31178784	CCCTTTTAGACTACATCAGGAGAAGATGTTCGAGACTTTGCCAAGGTACTAAAAAACAAAT
137852915	18139	NM_005670.3(EPM2A):c.322C>T (p.Arg108Cys)	EPM2A	Oct 01, 2005	MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:230425004	Lafora disease	germline	6	145686276	CTTGTTCTAGGCAATGGACCTCATCATGACCGTTGCTGTACTTACAATGAAAACAACTTGG
886039494	260118	NM_020988.2(GNAO1):c.625C>T (p.Arg209Cys)	GNAO1	Sep 28, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN244050,OMIM:617493;MedGen:CN517202	Early infantile epileptic encephalopathy;Neurodevelopmental disorder with involuntary movements;not provided	germline	16	56336762	CTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACG
727503844	177178	NM_004006.2(DMD):c.2956C>T (p.Gln986Ter)	DMD	Nov 10, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;not provided	germline	X	32468704	TGTATTTAAAAAATTGTTTTTTAGGCTTTACAAAGTTCTCTGCAAGAGCAACAAAGTGGCC
587783541	169907	NM_178151.2(DCX):c.304C>T (p.Arg102Cys)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410095	TCTGACAACATCAACCTGCCTCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGA
1057517944	360048	NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1	Mar 26, 2017	MedGen:C1838163,OMIM:600376;MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:C1832529;MedGen:CN517202;MedGen:CN169374	Hereditary hemorrhagic telangiectasia type 2;Osler hemorrhagic telangiectasia syndrome;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not provided;not specified	germline;somatic	12	51920816	CGGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACAC
397518485	94347	NM_147686.3(TRAF3IP2):c.1580C>T (p.Thr527Ile)	TRAF3IP2	Oct 17, 2013	MedGen:C3714992,OMIM:615527	Candidiasis, familial, 8	germline	6	111559523	AGGAGCATGTGCCCACCTGGCTTCAGAACACTCATGTCTACAGCTGGCCCAAGAATAAAAA
137852673	24144	NM_000352.4(ABCC8):c.4135C>T (p.Arg1379Cys)	ABCC8	Mar 01, 2016	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885;MedGen:C1835887,OMIM:610374	Diabetes mellitus type 2;Permanent neonatal diabetes mellitus;Transient neonatal diabetes mellitus 2	germline	11	17395915	CTTCTCTCTTTCCAGATCGGGATCTGCGGCCGCACCGGCAGTGGGAAGTCCTCCTTCTCTC
587783795	170063	NM_000252.2(MTM1):c.1456C>T (p.Arg486Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150660473	GGTACTTTCTTATTCAACTGTGAATCTGCTCGAGAAAGACAGGTGAGTTAAAATGCTATTT
267607077	22967	NM_014014.4(SNRNP200):c.3260C>T (p.Ser1087Leu)	SNRNP200	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C1835895,OMIM:610359	Retinitis pigmentosa;Retinitis pigmentosa 33	germline;unknown	2	96287968	AACAGTGGGAATGCTGCTTCTTTGCTTAGTCGGCTGGCCGGTTGATGCGAGCGATATTTGA
118203917	15680	NM_001136194.1(FASTKD2):c.1294C>T (p.Arg432Ter)	FASTKD2	Sep 01, 2008	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	2	206774264	ATCCTCATTTTATTTGAAAACCTTGGCTTTCGACCTGTTGGTTTAATGGACCTGTTTATGA
767570081	359724	NM_032119.3(ADGRV1):c.11410C>T (p.Arg3804Ter)	ADGRV1	Jun 02, 2015	MedGen:CN517202	not provided	germline	5	90755015	AACACCACCACTCTTCAGTTACAAATAGCTCGAGATAAAGGACTACTTGGGGATATTGCCA
121907909	18533	NM_024426.4(WT1):c.1372C>T (p.Arg458Ter)	WT1	Jul 03, 2017	MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009;MedGen:C0950122,OMIM:136680,Orphanet:ORPHA347,SNOMED CT:445431000;MedGen:C0950122,OMIM:136680,Orphanet:ORPHA347,SNOMED CT:445431000;MedGen:CN033288,OMIM:194070;MedGen:CN033288,OMIM:194070;Gene:100528024,MedGen:C0206115,OMIM:194072,Orphanet:ORPHA893,SNOMED CT:4135001;MedGen:CN517202	Drash syndrome;Frasier syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not provided	germline;unknown	11	32392032	GTGAAACCATTCCAGTGTAAAACTTGTCAGCGAAAGTTCTCCCGGTCCGACCACCTGAAGA
11555096	26907	NM_000137.2(FAH):c.1021C>T (p.Arg341Trp)	FAH	Sep 14, 2016	MedGen:C4017342;MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006;MedGen:CN517202	Fumarylacetoacetase pseudodeficiency;Tyrosinemia type I;not provided	germline	15	80180184	ACTCACCACTCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGGCTTCTGGGACCA
118192147	76860	NM_000540.2(RYR1):c.14659C>T (p.His4887Tyr)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38584955	TGTGCTCCCCTCCCTCAGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAG
773359554	59544	NM_001256240.1(PGAP2):c.46C>T (p.Arg16Trp)	PGAP2	Apr 04, 2013	Gene:100689013,MedGen:C3280153,OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	germline	11	3811305	CTACCACTGGATCGGGATGGGACCCTGGTACGGCTCCGCTTCACCATGGTGGCCCTGGTCA
146538906	39622	NM_147127.4(EVC2):c.2653C>T (p.Arg885Ter)	EVC2	Sep 01, 2011	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	germline	4	5618531	GTTCTGCTGCAGCAATTTCAGACTGCGTGGCGAGAAGCAGAGTTCGTGAAGCTGGACCAGG
886044332	274259	NM_025114.3(CEP290):c.2668C>T (p.Gln890Ter)	CEP290	Aug 08, 2016	MedGen:C1857780,OMIM:610188	Joubert syndrome 5	germline	12	88106824	GCAGAAAATAGTAGGAAAATTACTGTTTTGCAAGTGAATGAAAAATCACTTATAAGGCAAT
397514511	48078	NM_001567.3(INPPL1):c.1201C>T (p.Arg401Trp)	INPPL1	Feb 04, 2013	MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:254068007	Opsismodysplasia	germline	11	72230799	GCCCCTGAGTGGCTGCTGTTCCCCCAGAAGCGGGAGGCCTTCTGCCAGCTGTTGCAGCTCA
140813121	44257	NM_000066.3(C8B):c.820C>T (p.Arg274Ter)	C8B	Sep 01, 2009	MedGen:C3151080,OMIM:613789	Complement component 8 deficiency type 2	germline	1	56949599	TTTGAACTTGGCATCAGTAGTCAAAGTGATCGAGGCAAACACTATATTAGGAGAACCAAAC
61750643	105319	NM_000350.2(ABCA4):c.6112C>T (p.Arg2038Trp)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94005476	ACAGGACGAGAACATCTTTACCTTTATGCCCGGCTTCGAGGTGTACCAGCAGAAGAAATCG
119455952	17691	NM_152281.2(GORAB):c.859C>T (p.Arg287Ter)	GORAB	Dec 01, 2008	MedGen:C0432255,OMIM:231070,Orphanet:ORPHA2078,SNOMED CT:254116003	Geroderma osteodysplastica	germline	1	170552136	CTTTGTACGATCATACAGCAAAATGAGCTCCGAAAGGCCAAGAAGTTGGAGGAGTTGATGC
185919705	94338	NM_152336.3(AGBL1):c.3220C>T (p.Arg1074Ter)	AGBL1	Oct 03, 2013	MedGen:C3809798,OMIM:615523	Corneal dystrophy, Fuchs endothelial, 8	germline	15	86674435	GAGGAGGACGCTCTGGACCAGCACCTCCAACGGTAAGATGCTCCCAAGGGCTCAGAGAAAT
74598136	19363	NM_001005741.2(GBA):c.1319C>T (p.Pro440Leu)	GBA	Jun 04, 1999	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155235750	CCAATTGGGTGCGTAACTTTGTCGACAGTCCCATCATTGTAGACATCACCAAGGACACGTT
267607517	77344	NM_002055.4(GFAP):c.1148C>T (p.Thr383Ile)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44910638	TTTCTTTCAGGATCACCATTCCCGTGCAGACCTTCTCCAACCTGCAGATTCGAGGTCAGTA
182923857	99242	NM_000709.3(BCKDHA):c.1036C>T (p.Arg346Cys)	BCKDHA	Aug 25, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	19	41423038	CACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATA
120074127	18032	NM_000543.4(SMPD1):c.1327C>T (p.Arg443Ter)	SMPD1	May 24, 2016	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006;MedGen:C0268243,OMIM:607616,Orphanet:ORPHA77293,SNOMED CT:39390005;MedGen:CN517202	Niemann-Pick disease, type A;Niemann-Pick disease, type B;not provided	germline;unknown	11	6393680	TGTCTGAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGATGAGG
587777501	143227	NM_021147.4(CCNO):c.961C>T (p.Gln321Ter)	CCNO	Sep 03, 2015	MedGen:C4014534,OMIM:615872;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia, primary, 29;Kartagener syndrome	germline	5	55231467	GCGGCGCTGGAGGACTGTATGGGCAAGTTGCAGCTGCTGGTGGCCATAAACAGTACTTCCT
796052118	200887	NM_031924.5(RSPH3):c.1192C>T (p.Arg398Ter)	RSPH3	Jul 02, 2015	MedGen:C4225311,OMIM:616481	Ciliary dyskinesia, primary, 32	germline	6	158980867	CACAACGAGACATCACAAAAAATCGCCGCCCGAGCATTTGCACAGCGTTACCTGGCTGACC
121434337	17098	NM_152443.2(RDH12):c.464C>T (p.Thr155Ile)	RDH12	Dec 15, 2005	MedGen:C2675186,OMIM:612712	Leber congenital amaurosis 13	germline	14	67726996	TGGCTCTCCTCACAGGCCACTTCCTCCTCACCTACCTGCTCCTGGAGCGGCTAAAGGTGTC
757782702	421065	NM_000051.3(ATM):c.850C>T (p.Gln284Ter)	ATM	Nov 05, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108244975	TCTTTAAAAGAAGTCATTATTGAATTATTTCAACTGCAAATTTATATCCATCATCCGAAAG
200177031	485963	NM_001145079.1(COG6):c.511C>T (p.Arg171Ter)	COG6	Feb 22, 2018	MedGen:C3553230,OMIM:614576,Orphanet:ORPHA464443	Congenital disorder of glycosylation type 2L	germline	13	39677550	CAACTGACTTCTGATGAAATGAGTCTTCTCCGAGGTACAAGAGAAGGACCCATTACTGAGG
727504410	176124	NM_000138.4(FBN1):c.6886C>T (p.Gln2296Ter)	FBN1	Jan 29, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48428457	CAATAAAATCAAACAGATGAGAATGAATGTCAGACGAAGCCAGGGATCTGTGAGAATGGGC
1057520569	364847	NM_006147.3(IRF6):c.352C>T (p.Gln118Ter)	IRF6	Mar 19, 2015	MedGen:CN517202	not provided	germline	1	209796375	GTGAAGATATATCAAGTGTGTGACATCCCTCAGCCCCAGGGCTCGATCATTAACCCAGGTG
387907365	59493	NM_002290.4(LAMA4):c.2828C>T (p.Pro943Leu)	LAMA4	Jul 31, 2007	MedGen:C3808935,OMIM:615235	Dilated cardiomyopathy 1JJ	germline	6	112140887	GAAAACATGGAAAGGTGTTTTTAACAGTCCCGAGTCTAAGTAGCACAGCAGAGGAAAAGTT
121909017	22194	NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117559546	TTAAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGCACCAT
34599082	33435	NM_002036.3(ACKR1):c.265C>T (p.Arg89Cys)	ACKR1	Jun 01, 2001	na	DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE	germline	1	159205704	GTCCTCTTCATGCTTTTCAGACCTCTCTTCCGCTGGCAGCTCTGCCCTGGCTGGCCTGTCC
387906887	39375	NM_006059.3(LAMC3):c.1156C>T (p.Gln386Ter)	LAMC3	Jun 01, 2011	MedGen:C3279875,OMIM:614115,Orphanet:ORPHA280640	Cortical malformations, occipital	germline	9	131039043	CCGCGGATGCCATGCCAGCCCTGTGACTGCCAGTCGGCAGGTGAGTGGACTCCACATCCCC
397515848	51592	NM_000138.4(FBN1):c.7180C>T (p.Arg2394Ter)	FBN1	Jul 05, 2011	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48427591	GTGGCTTTCAAGAAACTCTGTCCCCATGGCCGAGGATTCATGACCAATGGAGCAGGTACTT
199476101	23246	NM_001009944.2(PKD1):c.5764C>T (p.Gln1922Ter)	PKD1	Jul 01, 1999	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	Polycystic kidney disease, adult type	germline	16	2109403	GCTGCCGGCTCAGCTGTCACCTTCCGCCTGCAGGTCGGCGGGGCCAACCCCGAGGTGCTCC
878854594	241050	NM_003002.3(SDHD):c.361C>T (p.Gln121Ter)	SDHD	Jun 30, 2017	MedGen:C1868633,OMIM:168000	Paragangliomas 1	germline	11	112094851	GTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCAC
964711006	440181	NM_001080463.1(DYNC2H1):c.7984C>T (p.Arg2662Trp)	DYNC2H1	Jun 01, 2017	MedGen:CN674506;MedGen:CN674505	Short-rib polydactyly syndrome type I;Short-rib polydactyly syndrome type III	unknown	11	103199372	CTATTAGCAGGACGCAGTGGTGTAGGTCGTCGGACCATCACTTCTTTAGTCAGTCACATGC
199472844	78120	NM_000238.3(KCNH2):c.164C>T (p.Ser55Leu)	KCNH2	Sep 15, 2011	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150974854	ACGACGGCTTCTGCGAGCTGTGCGGCTACTCGCGGGCCGAGGTGATGCAGCGACCCTGCAC
137852471	25369	NM_000132.3(F8):c.6865C>T (p.Gln2289Ter)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154860467	TTCCTCATCTCCAGCAGTCAAGATGGCCATCAGTGGACTCTCTTTTTTCAGAATGGCAAAG
1060501082	400216	NM_000138.4(FBN1):c.2089C>T (p.Gln697Ter)	FBN1	May 15, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48503811	AGCACTGAGTATGCATTTGGGGAACCTTGCCAGCCGTGTCCTGCACAGAATTCAGGTATGT
-1	442707	NM_172362.2(KCNH1):c.1465C>T (p.Leu489Phe)	KCNH1	Aug 22, 2017	MedGen:CN517202	not provided	germline	1	210804164	TTCTTTTGCTCCTCCTCCTCACCTCTAGCACTTCTCTATGCCACCATCTTCGGGAATGTGA
875989879	227917	NM_017780.3(CHD7):c.6292C>T (p.Arg2098Ter)	CHD7	Mar 29, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	de novo	8	60853017	CCAGAGTGGTGGGAGTGTGGACGGCATGACCGAGACTTGCTGGTTGGTGCTGCTAAACACG
886044837	269319	NM_000202.7(IDS):c.1591C>T (p.Gln531Ter)	IDS	Nov 23, 2015	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline	X	149482808	GAACTGTATTTTGTGGATTCTGACCCATTGCAGGATCACAATATGTATAATGATTCCCAAG
797045947	206782	NM_006642.4(SDCCAG8):c.481C>T (p.Gln161Ter)	SDCCAG8	Apr 09, 2015	MedGen:C3150877,OMIM:613615	Senior-Loken syndrome 7	germline	1	243286332	CAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGACAAGAGG
60035576	38719	NM_000421.3(KRT10):c.1300C>T (p.Gln434Ter)	KRT10	Apr 01, 2006	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	17	40819590	GAAACCGAGTGCCAGAATACTGAATACCAACAACTCCTGGATATTAAGATCCGACTGGAGA
387907191	40338	NM_017755.5(NSUN2):c.1114C>T (p.Gln372Ter)	NSUN2	May 04, 2012	MedGen:C1970199,OMIM:611091	Mental retardation, autosomal recessive 5	germline	5	6611067	GTGGTTCTGCAGGTAATGACGAAAGATGGGCAGTGGTTTACAGACTGGGACGCTGTTCCTC
72555372	15980	NM_000404.3(GLB1):c.1051C>T (p.Arg351Ter)	GLB1	Jul 01, 2000	MedGen:C1968747	GM1-gangliosidosis, type I, with cardiac involvement	germline	3	33046137	GGGGACCTCACTGAGAAGTATTTTGCTCTGCGAAACATCATCCAGAAGGTGGGTGCTTTGT
863223792	209442	NM_003238.3(TGFB2):c.895C>T (p.Arg299Trp)	TGFB2	Feb 06, 2017	MedGen:C3553762,OMIM:614816;MedGen:CN517202	Loeys-Dietz syndrome 4;not provided	germline	1	218436110	TACAGACTTGAGTCACAACAGACCAACCGGCGGAAGAAGCGTGCTTTGGATGCGGCCTATT
137852841	17720	NM_031443.3(CCM2):c.319C>T (p.Gln107Ter)	CCM2	Nov 30, 2016	MedGen:C1864041,OMIM:603284;MedGen:CN517202	Cerebral cavernous malformations 2;not provided	germline	7	45064493	AGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTG
758026399	231821	NM_000431.3(MVK):c.643C>T (p.Arg215Ter)	MVK	Nov 16, 2015	MedGen:CN517202	not provided	germline	12	109586765	CACTGGTTTTTCTCTTTAGGAGGAGCCCTCCGATACCATCAAGGGAAGATTTCATCCTTAA
1057519455	362145	NM_203290.3(POLR1C):c.88C>T (p.Pro30Ser)	POLR1C	-	MedGen:C4225305,OMIM:616494	Leukodystrophy, hypomyelinating, 11	germline	6	43517324	CCTTTGCTCTAGGTCCATACTACTGACTTTCCCGGTAACTATTCCGGTTATGATGATGCCT
886042421	266790	NM_033071.3(SYNE1):c.21721C>T (p.Gln7241Ter)	SYNE1	Aug 14, 2015	MedGen:C2751807,OMIM:612998;MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	germline	6	152219113	TTTCTCCATGAGCTGGGAGAGCAACTGAAGCAACAAGTGGATGCTTCCGCAGCATCAGCTA
80356517	34132	NM_001457.3(FLNB):c.1945C>T (p.Arg649Ter)	FLNB	Apr 01, 2015	MedGen:C1848934,OMIM:272460,Orphanet:ORPHA3275	Spondylocarpotarsal synostosis syndrome	inherited	3	58108461	GAGACTTACTATCTGCCTTTGCTTCAGGTTCGAGCATACGGGCCAGGTTTGGAGAAATCTG
137852649	24239	NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe)	ACADSB	Feb 01, 2006	MedGen:C1864912,OMIM:610006,Orphanet:ORPHA79157,SNOMED CT:444838008	Deficiency of 2-methylbutyryl-CoA dehydrogenase	germline	10	123043127	CATATAGGGAAACCTGAAAACAAATTGGGGCTCAGAGCTTCTTCCACCTGCCCGTTAACAT
1060503288	427299	NM_000038.5(APC):c.4405C>T (p.Gln1469Ter)	APC	-	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112839999	ACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGG
373764886	181524	NM_017831.3(RNF125):c.488C>T (p.Ser163Leu)	RNF125	Mar 11, 2015	MedGen:C4015710,OMIM:616260	Tenorio syndrome	germline	18	32045716	TGCTGGATCATTGTATTACTCATCACAGATCGGAACGGAGGCCTGTGGTAAGGATTTTTGT
766028970	443706	NM_006846.3(SPINK5):c.2215C>T (p.Gln739Ter)	SPINK5	Sep 11, 2017	MedGen:CN517202	not provided	germline	5	148118539	CGTGATGCTGATGGCAAATCGTACAACAATCAGTGTACCATGTGTAAAGCAAAATTGTAAG
121913659	29095	NM_007103.3(NDUFV1):c.1268C>T (p.Thr423Met)	NDUFV1	May 18, 2017	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline;maternal;unknown	11	67612225	GGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTG
137852978	19509	NM_177438.2(DICER1):c.2830C>T (p.Arg944Ter)	DICER1	May 03, 2017	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100528,MedGen:C1266144,Orphanet:ORPHA64742	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome;Pleuropulmonary blastoma	germline	14	95106198	TTTAGATATCGCAATTTTGATCAGCCTCATCGATTTTATGTAGCTGATGTGTACACTGATC
-1	425340	NM_001100.3(ACTA1):c.821C>T (p.Ala274Val)	ACTA1	Jun 22, 2017	MedGen:CN517202	not provided	germline	1	229431890	CCCCGCCGCGGTCCCCAGGTATGGAGTCGGCGGGCATTCACGAGACCACCTACAACAGCAT
1114167307	247356	NM_021954.3(GJA3):c.56C>T (p.Thr19Met)	GJA3	Jul 29, 2016	Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Congenital cataract	inherited	13	20143233	GACTCTTAGAAAATGCACAGGAGCACTCCACGGTCATCGGCAAGGTTTGGCTGACCGTGCT
-1	434159	NM_000384.2(APOB):c.13135C>T (p.Gln4379Ter)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21002287	GAAGCTTCTCAAGAGTTACAGCAGATCCATCAATACATTATGGCCCTTCGTGAAGAATATT
387906802	39130	NM_000445.4(PLEC):c.6955C>T (p.Arg2319Ter)	PLEC	Jan 25, 2011	MedGen:C2931072,OMIM:226670,Orphanet:ORPHA257	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	germline	8	143923055	CGGCTGAGTGTGGCGGCCCAAGAGGCTGCGCGACTGCGGCAGCTGGCAGAGGAGGACCTGG
80356520	21436	NM_001457.3(FLNB):c.4819C>T (p.Arg1607Ter)	FLNB	Oct 09, 2008	MedGen:C1848934,OMIM:272460,Orphanet:ORPHA3275	Spondylocarpotarsal synostosis syndrome	germline	3	58136126	GACGACATCCCACTTTCTCCTTATCGCATCCGAGCCACACAGACGGGTGATGCCAGCAAGT
267607128	27473	NM_000363.4(TNNI3):c.61C>T (p.Arg21Cys)	TNNI3	Nov 01, 2005	MedGen:C1860752,OMIM:613690	Familial hypertrophic cardiomyopathy 7	germline	19	55157097	GAACCTCGCCCTGCACCAGCCCCAATCAGACGCCGCTCCTCCAACTACCGCGCTTATGCCA
939722027	440216	NM_014714.3(IFT140):c.70C>T (p.His24Tyr)	IFT140	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	16	1607197	GCAGCAGGGTCACCCTCATTTATCAGCTGGCACCCTGTCCATCCATTCTTGGCAGTTGCTT
1060500357	402194	NM_000267.3(NF1):c.2848C>T (p.Gln950Ter)	NF1	Aug 04, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31229463	ACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTT
797044747	194799	NM_000169.2(GLA):c.661C>T (p.Gln221Ter)	GLA	Jul 11, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398925	TTTTCACAGCCCAATTATACAGAAATCCGACAGTACTGCAATCACTGGCGAAATTTTGCTG
1057519589	362423	NM_018713.2(SLC30A10):c.460C>T (p.Gln154Ter)	SLC30A10	Feb 09, 2017	OMIM:613280	Hypermanganesemia with dystonia 1	germline	1	219927981	TGCCTCCGGGGACGCAGTCGCCGCCTGCAGCAGCGGCAGCAGCTGGCGGAGGGCTGTGTCC
397509247	70157	NM_007294.3(BRCA1):c.5266C>T (p.Gln1756Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43057063	CACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAA
132630266	26193	NM_000390.3(CHM):c.877C>T (p.Arg293Ter)	CHM	Dec 12, 2017	Human Phenotype Ontology:HP:0001139,MedGen:C0008525,OMIM:303100,Orphanet:ORPHA180,SNOMED CT:75241009;MedGen:CN517202	Choroideremia;not provided	germline	X	85957918	AATAGCAAACAACTTACTATGGTAGAAAAGCGAATGCTAATGAAATTTCTTACATTTTGTA
797045201	206606	NM_024531.4(SLC52A2):c.865C>T (p.Leu289=)	SLC52A2	Mar 17, 2015	MedGen:C3553538,OMIM:614707	Brown-Vialetto-Van Laere syndrome 2	germline	8	144360357	CTGCTGGGCCTGTTGGCCGCCACCAACGCGCTGACCAATGGCGTGCTGCCTGCCGTGCAGA
187063864	247519	NM_007255.2(B4GALT7):c.421C>T (p.Arg141Trp)	B4GALT7	Dec 22, 2017	MedGen:C1869122,OMIM:130070,Orphanet:ORPHA75496;MedGen:CN517202	Ehlers-Danlos syndrome progeroid type;not provided	germline	5	177607309	CCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGG
377153250	232383	NM_000465.3(BARD1):c.1216C>T (p.Arg406Ter)	BARD1	Jul 12, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009	Familial cancer of breast;Hereditary cancer-predisposing syndrome	germline	2	214780658	CCTTCTACATTAAGTAGTTCAAGTTACAGGCGAGTGATGTCTAGTCCCTCAGCAATGAAGC
80356476	21403	NM_002977.3(SCN9A):c.2572C>T (p.Leu858Phe)	SCN9A	Aug 26, 2008	MedGen:C0014805,OMIM:133020,Orphanet:ORPHA90026,SNOMED CT:403390002	Primary erythromelalgia	unknown	2	166277252	ATTGGTAACTCAGTAGGGGCTCTAGGTAACCTCACCTTAGTGTTGGCCATCATCGTCTTCA
1114167319	247441	NM_003483.4(HMGA2):c.193C>T (p.Gln65Ter)	HMGA2	-	Gene:140821,MedGen:C0175693,OMIM:180860,Orphanet:ORPHA813,SNOMED CT:15069006	Russell-Silver syndrome	de novo	12	65828082	AGCAAAAACAAGAGTCCCTCTAAAGCAGCTCAAAAGGTGAGATTTCTCAAGTCAAGCTCTC
398124478	102281	NM_138694.3(PKHD1):c.2341C>T (p.Arg781Ter)	PKHD1	Dec 07, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;maternal	6	52048558	TCTGGACTGGTCCTGGTGACGACACAGAGACGACAGCGGACAAGTCCACCTCTAGGAGGAC
104886286	36096	NM_000495.4(COL4A5):c.4687C>T (p.Arg1563Ter)	COL4A5	Jan 25, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108692924	AAGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTA
1064797027	407633	NM_007327.3(GRIN1):c.1955C>T (p.Ala652Val)	GRIN1	Mar 21, 2017	MedGen:CN517202	not provided	germline	9	137162681	TCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGA
141913727	376530	NM_002734.4(PRKAR1A):c.535C>T (p.Gln179Ter)	PRKAR1A	Jun 04, 2015	MedGen:C0406810,Orphanet:ORPHA1359;MedGen:CN517202	Carney complex;not provided	germline;unknown	17	68524944	GATGAAGGGGATAACTTCTATGTGATTGATCAAGGAGAGACGGATGTAAGATTTACCAATA
199422209	33004	NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	SERPINA1	Sep 09, 2016	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007;na	Alpha-1-antitrypsin deficiency;PI M(HEERLEN)	germline;unknown	14	94378528	CTATCCCCCCCGAGGTCAAGTTCAACAAACCCTTTGTCTTCTTAATGATTGAACAAAATAC
146579504	170943	NM_030777.3(SLC2A10):c.691C>T (p.Arg231Trp)	SLC2A10	Oct 06, 2014	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342;MedGen:CN517202	Arterial tortuosity syndrome;not provided	germline	20	46725727	CTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCT
754914260	185692	NM_005215.3(DCC):c.823C>T (p.Arg275Ter)	DCC	Jul 03, 2017	MedGen:C0175754,OMIM:217990,Orphanet:ORPHA200;MedGen:C1834870,OMIM:157600	Corpus callosum agenesis;Mirror movements 1	germline	18	52923832	GGCTATCCTCCACCAAGTTTTACCTGGTTACGAGGCGAGGAAGTCATCCAACTCAGGTATT
63750635	29301	NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe)	MAPT	Mar 01, 2002	MedGen:C0236642,OMIM:172700,SNOMED CT:13092008;MedGen:CN517202	Pick's disease;not provided	germline	17	46014286	ACAAACCAGTTGACCTGAGCAAGGTGACCTCCAAGTGTGGCTCATTAGGCAACATCCATCA
397516672	53372	NM_001399.4(EDA):c.730C>T (p.Arg244Ter)	EDA	Apr 22, 2015	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468;MedGen:CN517202	Hypohidrotic ectodermal dysplasia;not provided	germline	X	70029527	TTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCT
104893678	17079	NM_032146.5(ARL6):c.364C>T (p.Arg122Ter)	ARL6	Sep 01, 2004	MedGen:C1859564,OMIM:600151	Bardet-Biedl syndrome 3	germline	3	97788004	TTATTTTCTCTTTTAGATATTAAACACCGTCGAATTCCAATCTTATTCTTTGCAAATAAAA
397514392	36386	NM_000060.4(BTD):c.896C>T (p.Ala299Val)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644752	CTGTTGCCTTTGGCATCAACGTTCTGGCAGCTAATGTCCACCACCCAGTTCTGGGGATGAC
397515625	79352	NM_000394.3(CRYAA):c.61C>T (p.Arg21Trp)	CRYAA	Jan 09, 2015	MedGen:CN071376;Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Cataract, autosomal dominant, multiple types, with microcornea;Congenital cataract	germline;inherited	21	43169160	AAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCC
121907924	18515	NM_000280.4(PAX6):c.613C>T (p.Gln205Ter)	PAX6	Feb 20, 2017	MedGen:C1833797,OMIM:165550;MedGen:CN517202	Optic nerve hypoplasia, bilateral;not provided	germline	11	31794699	GAAGATTCAGATGAGGCTCAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAAATAGAA
121909091	22320	NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp)	DNM2	Jun 21, 2017	MedGen:CN221282;MedGen:C1834558,OMIM:160150,Orphanet:ORPHA169189;MedGen:CN517202	Myopathy, centronuclear;Myopathy, centronuclear, 1;not provided	germline	19	10798543	GAGACAGAGCGAATCGTCACCACTTACATCCGGGAACGGGAGGGGAGAACGAAGGACCAGG
794728364	197300	NM_000238.3(KCNH2):c.1096C>T (p.Arg366Ter)	KCNH2	Jan 03, 2017	MedGen:CN517202	not provided	germline	7	150957323	CGTGAGATCATAGCACCTAAGATAAAGGAGCGAACCCACAATGTCACTGAGAAGGTCACCC
-1	474701	NM_002485.4(NBN):c.2041C>T (p.Gln681Ter)	NBN	Aug 31, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	8	89946169	AATCCATCTGGCATAAATGATGATTATGGTCAACTAAAAAATTTCAAGAAATTCAAAAAGG
869025495	224184	NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu)	NPHS2	Sep 28, 2015	Human Phenotype Ontology:HP:0000093,MedGen:C0033687	Proteinuria	germline	1	179564715	TTTCCCTGCTCTTCATCATCATGACCTTCCCTTTTTCCATCTGGTTCTGCGTAAAGGTGAG
387907313	45875	NM_006516.2(SLC2A1):c.694C>T (p.Arg232Cys)	SLC2A1	May 15, 2014	MedGen:C3553859,OMIM:614847;MedGen:CN517202	Epilepsy, idiopathic generalized, susceptibility to, 12;not provided	germline	1	42929766	CCTCCGGTCCCCCCAGTGCTAAAGAAGCTGCGCGGGACAGCTGACGTGACCCATGACCTGC
137853312	26800	NM_001110556.1(FLNA):c.3557C>T (p.Ser1186Leu)	FLNA	Nov 01, 2015	MedGen:C0265293,OMIM:305620,Orphanet:ORPHA1826,SNOMED CT:62803002;MedGen:CN517202	Frontometaphyseal dysplasia;not provided	germline	X	154360238	GGGAGGTGGGCCAATTCCAAGTGGACTGCTCGAGCGCGGGCAGCGCGGAGCTGACCATTGA
864622636	221821	NM_000077.4(CDKN2A):c.148C>T (p.Gln50Ter)	CDKN2A	Apr 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1512419;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;not provided	germline	9	21974680	GCACCGAATAGTTACGGTCGGAGGCCGATCCAGGTGGGTAGAGGGTCTGCAGCGGGAGCAG
-1	417139	NM_019098.4(CNGB3):c.301C>T (p.Gln101Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86726568	GCAGCAGAACCAACTGGAACAGTGCCAGAGCAGAAGGAAATGGACCCCGGGAAAGAAGGTC
568609861	264724	NM_001942.3(DSG1):c.724C>T (p.Arg242Ter)	DSG1	Feb 28, 2017	MedGen:CN517202	not provided	germline	18	31333628	CAGTATGCTCTTGCTGTAAGAGGCTCTGACCGAGATGGCGGGGCAGATGGCATGTCAGCGG
377046630	195022	NM_025074.6(FRAS1):c.370C>T (p.Arg124Ter)	FRAS1	Feb 04, 2015	MedGen:C0265233,OMIM:219000,SNOMED CT:204102004	Cryptophthalmos syndrome	germline	4	78252452	AGTGTGTGCTCTTGCAATCATGGGGAAGTCCGATGTACCCCCCAACCATGCCCACCGCTGT
797044874	205228	NM_015265.3(SATB2):c.847C>T (p.Arg283Ter)	SATB2	Oct 24, 2017	MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Inborn genetic diseases;not provided	germline	2	199349027	CACAGCCAAATTCACCACAGTACTCCAATCCGAAACCAAGTGCCCGCATTACAGCCCATCA
-1	433019	NM_022650.2(RASA1):c.1504C>T (p.Arg502Ter)	RASA1	Sep 26, 2016	MedGen:CN169374	not specified	germline	5	87376416	TCCCAAGTATTTATGCGCTGCCAGTTGAGCCGATTACAGAAAGGGCATGCCACAGATGAAT
786203986	185671	NM_052867.3(NALCN):c.1768C>T (p.Leu590Phe)	NALCN	May 19, 2015	MedGen:C4225398,OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	de novo;germline	13	101176371	TTTCATTGTTATTTCACCATTTTATAGATCCTCCTGAGTTTGTTTGTTGCTGTTATTTTGG
-1	482043	NM_014252.3(SLC25A15):c.22C>T (p.Gln8Ter)	SLC25A15	Nov 16, 2017	MedGen:CN517202	not provided	germline	13	40793248	TGGGCAAACATGAAATCCAATCCTGCTATCCAGGCTGCCATTGACCTCACAGCGGGGGCTG
398123017	51188	NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter)	RTEL1	Jun 16, 2016	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008;MedGen:C3554656,OMIM:615190;MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000	Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive, 5;Idiopathic fibrosing alveolitis, chronic form	germline;inherited	20	63693211	TTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCA
1057520734	369983	NM_017780.3(CHD7):c.1123C>T (p.Gln375Ter)	CHD7	May 12, 2015	MedGen:CN517202	not provided	germline	8	60742555	CAGCCCATCCACCCCAGTGGCTCACTTAACCAAATGAACACACAAACTATGCATCCTTCAC
923052172	360079	NM_002834.4(PTPN11):c.1051C>T (p.Arg351Ter)	PTPN11	Jul 23, 2015	MedGen:CN517202	not provided	germline	12	112477974	TTTTGGCGGATGGTGTTCCAAGAAAACTCCCGAGTGATTGTCATGACAACGAAAGAAGTGG
387906686	38843	NM_021007.2(SCN2A):c.788C>T (p.Ala263Val)	SCN2A	Jun 05, 2017	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927;MedGen:C3150987,OMIM:613721;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;Epileptic encephalopathy;not provided	de novo;germline	2	165310413	TCTTGACTGTGTTCTGTCTAAGCGTGTTTGCGCTAATAGGATTGCAGTTGTTCATGGGCAA
532757890	188955	NM_004826.3(ECEL1):c.1210C>T (p.Arg404Cys)	ECEL1	Jun 01, 2016	MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457;MedGen:CN517202	Arthrogryposis, distal, type 5d;not provided	germline	2	232484198	CCCAGGGTCCTGCACAACTACCTGGTGTGGCGCGTGGTGGTGGTCCTGAGTGAACACCTGT
794729277	199168	NM_001256850.1(TTN):c.55198C>T (p.Gln18400Ter)	TTN	Aug 12, 2013	MedGen:CN517202	not provided	germline	2	178591698	ACAAACTTAGAGTGTGTGGTTACTGGACTACAACAAGGAAAGACCTATAGATTCCGTGTAA
587777576	150465	NM_022168.3(IFIH1):c.1114C>T (p.Leu372Phe)	IFIH1	Jul 03, 2014	MedGen:C3888244,OMIM:615846	Aicardi-goutieres syndrome 7	germline	2	162282558	CATTTTTTTAAGGTACTGCTAGTTGAACAGCTCTTCCGCAAGGAGTTCCAACCATTTTTGA
587779774	132666	NM_001101.4(ACTB):c.359C>T (p.Thr120Ile)	ACTB	Sep 17, 2015	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995	Baraitser-Winter syndrome 1	germline	7	5529165	TGAACCCCAAGGCCAACCGCGAGAAGATGACCCAGGTGAGTGGCCCGCTACCTCTTCTGGT
-1	483643	NM_004656.3(BAP1):c.1174C>T (p.Gln392Ter)	BAP1	Jul 11, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	52404529	GGCCGCAGCCGAGTTCCAGTCCGCCCACCCCAGCAGTACTCAGATGATGAGGATGACTATG
746887949	424412	NM_003901.3(SGPL1):c.1513C>T (p.Arg505Ter)	SGPL1	Jul 21, 2017	MedGen:CN339707,OMIM:617575	NEPHROTIC SYNDROME 14	germline	10	70876608	CGAGTAGCTATACAATTCCTAAAGGACATTCGAGAATCTGTCACTCAAATCATGAAGAATC
775946081	239732	NM_001369.2(DNAH5):c.8029C>T (p.Arg2677Ter)	DNAH5	Jul 31, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13793710	TGTCTTTTGTAGGTTACGAATGAGATAGTGCGACAGCTGATGGAACAAAATGGATTCTATA
749341977	488000	NM_004646.3(NPHS1):c.802C>T (p.Arg268Ter)	NPHS1	Jul 14, 2016	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	germline	19	35849274	GGACAGAGCTTGGAGCTGCCGTGCGTGGCCCGAGGGGGTAATCCCTTAGCCACACTGCAGT
767707248	259728	NM_173076.2(ABCA12):c.178C>T (p.Arg60Ter)	ABCA12	Apr 06, 2016	MedGen:CN517202	not provided	germline	2	215064205	GTTTTTTTAATTTTAGGTTACCTCGCACCTCGAAACCTTCCTAGTACTGGATTCTTTCCAT
886043831	272452	NM_000346.3(SOX9):c.1249C>T (p.Gln417Ter)	SOX9	Jun 16, 2016	MedGen:C1861922,OMIM:114290,Orphanet:ORPHA140,SNOMED CT:74928006	Camptomelic dysplasia	germline	17	72124106	TACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCAC
730880297	178850	NM_000888.4(ITGB6):c.1846C>T (p.Arg616Ter)	ITGB6	Feb 13, 2015	MedGen:C4015557,OMIM:616221	Amelogenesis imperfecta, type IH	germline	2	160126416	AACCCTGGAGCCTCAGGACCAACCTGTGAACGATGTCCTACCTGTGGTGACCCCTGTAACT
876659802	236459	NM_000546.5(TP53):c.833C>T (p.Pro278Leu)	TP53	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;MedGen:C0027672,SNOMED CT:699346009;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006739,MedGen:C0553723	Adenocarcinoma of lung;Carcinoma of esophagus;Colorectal Neoplasms;Hereditary cancer-predisposing syndrome;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin	germline;somatic	17	7673787	ACAGCTTTGAGGTGCGTGTTTGTGCCTGTCCTGGGAGAGACCGGCGCACAGAGGAAGAGAA
121909084	22347	NM_004560.3(ROR2):c.550C>T (p.Arg184Cys)	ROR2	Sep 01, 2005	MedGen:C1849334,OMIM:268310,Orphanet:ORPHA1507	Robinow syndrome, autosomal recessive	germline	9	91737463	TGCCAGCCTTACCGGGGAATTGCCTGTGCACGCTTCATTGGCAACCGGACCATTTATGTGG
763481375	259723	NM_173076.2(ABCA12):c.2140C>T (p.Arg714Ter)	ABCA12	Mar 16, 2017	MedGen:CN517202	not provided	germline	2	215011631	TTTGTCTCACAGGCAATGTACAGAAGCAACCGAATGAACACACCACAAGGATCATTTAGCA
1057520746	365423	NM_000969.4(RPL5):c.535C>T (p.Arg179Ter)	RPL5	Jun 03, 2015	MedGen:CN517202	not provided	germline	1	92837463	AAATATGAATAACTTTATTTTAGTACCAAACGATTCCCTGGTTATGATTCTGAAAGCAAGG
121908665	21314	NM_002335.3(LRP5):c.1708C>T (p.Arg570Trp)	LRP5	Nov 16, 2001	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68403606	TGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACG
376128990	215031	NM_052845.3(MMAB):c.571C>T (p.Arg191Trp)	MMAB	Oct 20, 2016	MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311;MedGen:CN517202	Methylmalonic aciduria cblB type;not provided	germline	12	109561053	GCGCTGCATTTCTGCCGGGCCGTGTGCCGCCGGGCCGAGAGACGGTAAGAGGGCTGGAGAG
387906977	39649	NM_014679.4(CEP57):c.241C>T (p.Arg81Ter)	CEP57	Jun 01, 2011	MedGen:C3279843,OMIM:614114	Mosaic variegated aneuploidy syndrome 2	germline	11	95812970	TCTGCTCTTAAGAATCTTCAAGATAAGATTCGACGCTTGGAACTTGAGAGGATTCAGGCAG
782308324	232151	NM_001456.3(FLNA):c.7231C>T (p.Arg2411Ter)	FLNA	Jan 08, 2016	MedGen:CN517202	not provided	germline	X	154350109	ACCCACATCCCTGGAAGCCCCTTCAAGATCCGAGTTGGGGAGCCTGGGCATGGAGGGGACC
138228629	264740	NM_018451.4(CENPJ):c.1696C>T (p.Arg566Ter)	CENPJ	Dec 30, 2015	MedGen:CN517202	not provided	germline	13	24906342	TCTCTTCAGAAAAAGTTAGAGACTTGGGAACGAGAAAAGGAAAAGGAAAATTTGGAATTAG
121918540	22897	NM_006949.3(STXBP2):c.1430C>T (p.Pro477Leu)	STXBP2	Sep 01, 2010	MedGen:C2751293,OMIM:613101	Hemophagocytic lymphohistiocytosis, familial, 5	germline	19	7646322	AGCCCACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTACTGGG
104894546	33357	NM_001614.3(ACTG1):c.791C>T (p.Pro264Leu)	ACTG1	Nov 01, 2003	MedGen:C1858172,OMIM:604717	Deafness, autosomal dominant 20	germline	17	81511199	GGTTCCGGTGTCCGGAGGCGCTGTTCCAGCCTTCCTTCCTGGGTAGGTGTTGTGAGCTAAA
121917715	28869	NM_000168.5(GLI3):c.1486C>T (p.Gln496Ter)	GLI3	Oct 01, 1997	MedGen:C0265306,OMIM:175700,SNOMED CT:32985001	Greig cephalopolysyndactyly syndrome	germline	7	42023479	GGCTGCGCGAGGGAGTTCGACACCCAAGAGCAGCTTGTGCACGTAAGTGGATGGTATTCAG
28942097	18430	NM_147196.2(TMIE):c.250C>T (p.Arg84Trp)	TMIE	Jun 01, 2009	MedGen:C1832992,OMIM:600971	Deafness, autosomal recessive 6	germline	3	46709164	CTGTGCTGTGTCTTCAACTGTCGTGTGCCACGGACCCGGAAGGAGATCGAAGCCCGGTACC
398123275	98585	NM_000252.2(MTM1):c.70C>T (p.Arg24Ter)	MTM1	Feb 27, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150596504	CTGATGCATCTGTTTTGTTTCTAGACGTCTCGAGATGGAGTCAATCGAGATCTCACTGAGG
17860403	22803	NM_032977.3(CASP10):c.853C>T (p.Leu285Phe)	CASP10	Sep 08, 2011	MedGen:C1858968,OMIM:603909	Autoimmune lymphoproliferative syndrome, type 2A	germline	2	201208114	GTGTACAGGATGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAACCACAGCTTTA
45544633	175594	NM_000257.3(MYH7):c.4498C>T (p.Arg1500Trp)	MYH7	Oct 03, 2016	Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Cardiomyopathy;Hypertrophic cardiomyopathy	germline	14	23417174	GAGTCCCTGGAACATCTGGAGACCTTCAAGCGGGAGAACAAAAACCTGCAGGGTGTGCTGG
180177091	132277	NM_024675.3(PALB2):c.751C>T (p.Gln251Ter)	PALB2	Sep 30, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	16	23635795	AATTTCACCAGGGCGACTACAGTTCCTTTACAGACTCTATCAGATAGCGGTAGTAGTCAGC
104894289	28183	NM_000448.2(RAG1):c.1186C>T (p.Arg396Cys)	RAG1	Mar 14, 2017	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006;MedGen:CN517202	Histiocytic medullary reticulosis;not provided	germline	11	36574490	TTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAG
797044832	204284	NM_020533.2(MCOLN1):c.235C>T (p.Gln79Ter)	MCOLN1	Jul 30, 2015	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001	Mucolipidosis type IV	germline	19	7525164	CAAGTGGTCAAGATCCTGGTGGTCACGGTGCAGGTGAGGCCAGCCAAGCAGGGGCCCCAGC
-1	487755	NM_000053.3(ATP7B):c.3247C>T (p.Leu1083Phe)	ATP7B	Nov 21, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51942551	CCTCTTCCTCTCTTTCCACCTTCCCAGGAACTTGGAACAGAGACCTTGGGATACTGCACGG
587779399	106586	NM_000147.4(FUCA1):c.790C>T (p.Arg264Ter)	FUCA1	-	MedGen:C0016788,OMIM:230000,Orphanet:ORPHA349,SNOMED CT:64716005	Fucosidosis	inherited	1	23854539	CCTCCTTAGGATGAGGTGGTAGTAAATGACCGATGGGGTCAGAACTGTTCCTGTCACCATG
786204969	187614	NM_003159.2(CDKL5):c.1375C>T (p.Gln459Ter)	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095	Atypical Rett syndrome	de novo	X	18604299	GAAAGCTCTCAAAGCAAAGCTGGGACACTGCAGCCCAATGAAAAGCAGAGTCGGCATAGCT
754368658	216922	NM_002582.3(PARN):c.1045C>T (p.Arg349Trp)	PARN	Nov 01, 2015	MedGen:C4225356,OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	germline	16	14584383	AACAACACATCCCTTGCGGAATTGGAAAAGCGGTTAAAAGAGACACCTTTCAACCCTCCTA
121964865	27354	NM_001014796.2(DDR2):c.2138C>T (p.Thr713Ile)	DDR2	Jun 01, 2010	MedGen:C1849011,OMIM:271665,Orphanet:ORPHA93358	Spondylometaepiphyseal dysplasia short limb-hand type	germline	1	162776225	CTCTTAATTTTGTTCACCGAGATCTGGCCACACGAAACTGTTTAGTGGGTAAGAACTACAC
11544803	15768	NM_014402.4(UQCRQ):c.134C>T (p.Ser45Phe)	UQCRQ	Jun 16, 2015	MedGen:C3554607,OMIM:615159;MedGen:CN517202	Mitochondrial complex III deficiency, nuclear type 4;not provided	germline	5	132867015	TCCCCAATGTTCTGCGCCGCATTCGGGAGTCTTTCTTTCGCGTGGTGCCGCGTGAGTGCCT
398123711	100056	NM_003482.3(KMT2D):c.12406C>T (p.Gln4136Ter)	KMT2D	Nov 19, 2012	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49032299	GAGGCCTCATCTGTGCCCCACCTGCTGGCTCAGCCCTCTGTTTCCTTAGGGGATCAGCCTG
886039866	262393	NM_001065.3(TNFRSF1A):c.463C>T	TNFRSF1A	Oct 01, 2016	MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:310701003	Behcet's syndrome	germline	12	6333376	AATTGCAGCCTCTGCCTCAATGGGACCGTGCACCTCTCCTGTGAGCGCAGCTCTCCTGAGG
387907208	40611	NM_005691.3(ABCC9):c.3460C>T (p.Arg1154Trp)	ABCC9	Jul 11, 2017	MedGen:C1837839,OMIM:608569;MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517	Dilated cardiomyopathy 1O;Hypertrichotic osteochondrodysplasia	de novo;germline	12	21842327	GTTGCCTTTTATTTTATCCAGAAATACTTTCGGGTTGCCTCTAAGTAAGTAAAACAGCATC
121918267	17185	NM_133433.3(NIPBL):c.5167C>T (p.Arg1723Ter)	NIPBL	Jun 27, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37020615	ACTGGCCAAATTATGCATCGAGCTGAAAACCGAAAAAAGTTTCTTAGAAGCATTATCAAAA
-1	447543	NM_024529.4(CDC73):c.376C>T (p.Arg126Ter)	CDC73	Jul 25, 2017	Human Phenotype Ontology:HP:0006780,MedGen:C0687150,OMIM:608266,Orphanet:ORPHA143,SNOMED CT:255037004	Parathyroid carcinoma	germline	1	193135542	TTATTTACTTCTCTTTCTTTTATAGTCAAACGAGCTGCAGATGAAGTTTTAGCAGAAGCAA
864321717	217281	NM_006086.3(TUBB3):c.1138C>T (p.Arg380Cys)	TUBB3	Aug 01, 2016	MedGen:C2748801,OMIM:600638;MedGen:CN517202	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;not provided	germline	16	89935589	AACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCC
104894080	19239	NM_018972.2(GDAP1):c.715C>T (p.Leu239Phe)	GDAP1	Nov 11, 2016	MedGen:C1842983,OMIM:607831,Orphanet:ORPHA101097;MedGen:C1842197,OMIM:608340,Orphanet:ORPHA217055;MedGen:C1859198,OMIM:214400,Orphanet:ORPHA99948;Human Phenotype Ontology:HP:0003236,MedGen:C0241005,OMIM:123320;Human Phenotype Ontology:HP:0003155,MedGen:C0750857;Human Phenotype Ontology:HP:0003477,MedGen:C1263857;Human Phenotype Ontology:HP:0001271,MedGen:C0152025;Human Phenotype Ontology:HP:0000763,MedGen:C0151313;MedGen:CN517202	Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, recessive intermediate A;Charcot-Marie-Tooth disease, type 4A;Creatine phosphokinase, elevated serum;Elevated alkaline phosphatase;Peripheral axonal neuropathy;Polyneuropathy;Sensory neuropathy;not provided	germline;unknown	8	74364005	CTCTAATTAGAAGAGGGCCAGCAACCTTGGCTCTGCGGTGAATCCTTCACCCTGGCAGACG
28936703	22731	NM_003865.2(HESX1):c.509C>T (p.Ser170Leu)	HESX1	Jan 01, 2001	MedGen:C4016761	Septooptic dysplasia, mild	germline	3	57198246	GTGCAAAACTGAAAAGGTCCCATAGAGAATCACAGTTTCTAATGGCGAAAAAAAATTTCAA
121434254	18346	NM_000383.3(AIRE):c.769C>T (p.Arg257Ter)	AIRE	Feb 06, 2017	MedGen:C0085859,OMIM:240300,Orphanet:ORPHA3453,SNOMED CT:11244009;MedGen:CN517202	Polyglandular autoimmune syndrome, type 1;not provided	germline;unknown	21	44289773	CGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCG
398122419	94579	NM_133645.2(MTO1):c.1307C>T (p.Thr436Ile)	MTO1	Nov 01, 2013	MedGen:C3553529,OMIM:614702,Orphanet:ORPHA314637	Combined oxidative phosphorylation deficiency 10	germline	6	73480777	GACTCTTCTTTGCTGGACAGATCAATGGCACCACTGGTTATGAGGAAGCTGCAGCTCAAGT
121917759	27650	NM_005343.3(HRAS):c.437C>T (p.Ala146Val)	HRAS	May 31, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;MeSH:D015179,MedGen:CN236642;MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D002583,MedGen:CN236667	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of stomach;Colorectal Neoplasms;Costello syndrome;Multiple myeloma;Uterine cervical neoplasms	germline;somatic	11	533466	GCTACGGCATCCCCTACATCGAGACCTCGGCCAAGACCCGGCAGGTGAGGCAGCTCTCCAC
-1	457065	NM_194456.1(KRIT1):c.1417C>T (p.Gln473Ter)	KRIT1	Jun 13, 2017	MedGen:C1861784,OMIM:116860	Cerebral cavernous malformation	germline	7	92222048	TTATAAAAGGAATGATGTTTTTCAGGCCTTCAACTCAAACCATATCATAAACCCTTGCAAC
104886071	35666	NM_000495.4(COL4A5):c.796C>T (p.Arg266Ter)	COL4A5	Jul 20, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108580548	CCTACTACTGCATAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGATACGTG
281874661	35725	NM_000495.4(COL4A5):c.1219C>T (p.Gln407Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591111	GGCCCTCCTGGATTTCCTGGAGAAAGGGGTCAGAAAGGTGATGAAGGACCACCTGGAATTT
121434559	31965	NM_000942.4(PPIB):c.451C>T (p.Gln151Ter)	PPIB	Feb 17, 2011	MedGen:C1850169,OMIM:259440;MedGen:CN517202	Osteogenesis imperfecta type 9;not provided	germline;unknown	15	64156802	GCCAACGCAGGCAAAGACACCAACGGCTCCCAGTTCTTCATCACGACAGTCAAGACAGCCT
587781359	150617	NM_005359.5(SMAD4):c.1345C>T (p.Gln449Ter)	SMAD4	Sep 20, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	18	51076674	GATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAG
138726443	65594	NM_002016.1(FLG):c.7339C>T (p.Arg2447Ter)	FLG	Oct 30, 2017	MedGen:CN517202	not provided	germline	1	152307547	GGAAGACAAGGATCCCACCACAAGCAGGCACGAGACAGCTCCAGGCACTCAACGTCCCAAG
794726867	190185	NM_000921.4(PDE3A):c.1340C>T (p.Ala447Val)	PDE3A	Jun 01, 2015	Gene:8080,MedGen:C1862170,OMIM:112410,Orphanet:ORPHA1276	Brachydactyly with hypertension	germline	12	20616300	TTTCTTCCACTTGGACCACCACCACCTCGGCCACAGGTCTACCCACCTTGGAGCCTGCACC
1057519292	361794	NM_022089.3(ATP13A2):c.364C>T (p.Gln122Ter)	ATP13A2	Feb 01, 2017	MedGen:C4310662,OMIM:617225	Spastic paraplegia 78, autosomal recessive	germline	1	17004805	ACCTGCTTCCCCAGCCTGGAGCCGTCCCCACAGTCCCAGGCAGAGGATGGCCGGAGCCAGG
199473456	67751	NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu)	KCNQ1	May 22, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2571394	TGGGCTCCAAGGGGCAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTC
1057521106	365926	NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter)	COL3A1	Jan 03, 2017	MedGen:CN517202	not provided	germline	2	188991016	GTTTTATACATTTCCTAGGGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCTC
61753184	105442	NM_000372.4(TYR):c.229C>T (p.Arg77Trp)	TYR	May 15, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline;paternal	11	89178182	CCTCAATTTCCCTTCACAGGGGTGGATGACCGGGAGTCGTGGCCTTCCGTCTTTTATAATA
375781731	203609	NM_007254.3(PNKP):c.490C>T (p.Gln164Ter)	PNKP	Aug 01, 2013	MedGen:CN517202	not provided	germline	19	49865135	CTAGTGTTCACCGCAGCTGGGGTGAAACCCCAGGGCAAGGTGAGGGCCACGCCGAGGGCTG
867038717	374842	NM_002693.2(POLG):c.2125C>T (p.Arg709Ter)	POLG	Dec 14, 2016	MedGen:CN517202	not provided	germline	15	89323847	GTGGAGGCTGAGGCCAAGATGGAGAACTTGCGAGCTGCAGTGCCAGGTCAACCCCTAGCTC
119103263	17315	NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)	MFN2	Mar 21, 2017	Human Phenotype Ontology:HP:0008066,MedGen:C0241054;Human Phenotype Ontology:HP:0000682,MedGen:C4021800;Human Phenotype Ontology:HP:0000164,MedGen:C0262444;Human Phenotype Ontology:HP:0002293,MedGen:C1860137;MedGen:CN043576;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;Human Phenotype Ontology:HP:0004325,MedGen:CN003826;Human Phenotype Ontology:HP:0002460,MedGen:C1864696;Human Phenotype Ontology:HP:0003457,MedGen:C0476403;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;MedGen:C0393807,OMIM:601152,Orphanet:ORPHA90120,SNOMED CT:128203003;Human Phenotype Ontology:HP:0000953,MedGen:C0162834,Orphanet:ORPHA79375;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0008404,MedGen:C0221260;Human Phenotype Ontology:HP:0100699,MedGen:C0008767;Human Phenotype Ontology:HP:0004552,MedGen:C3806301;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;MedGen:CN517202	Abnormal blistering of the skin;Abnormality of dental enamel;Abnormality of the teeth;Alopecia of scalp;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A;Decreased body weight;Distal muscle weakness;EMG abnormality;Failure to thrive;Hereditary motor and sensory neuropathy with optic atrophy;Hyperpigmentation of the skin;Microcephaly;Nail dystrophy;Scarring;Scarring alopecia of scalp;Short stature;not provided	germline;unknown	1	11992659	AAAGTGAGAGGCATCAGTGAGGTGCTGGCTCGGAGGCACATGAAAGTGGCTTTTTTTGGCC
587783047	166261	NM_004360.4(CDH1):c.187C>T (p.Arg63Ter)	CDH1	Mar 30, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	germline	16	68801693	CCTGCAGTGAATTTTGAAGATTGCACCGGTCGACAAAGGACAGCCTATTTTTCCCTCGACA
74315442	23435	NM_000100.3(CSTB):c.202C>T (p.Arg68Ter)	CSTB	Jun 14, 2016	MedGen:C0751785,OMIM:254800,Orphanet:ORPHA308,SNOMED CT:230423006	Unverricht-Lundborg syndrome	germline	21	43774297	CACGTCGGCGACGAGGACTTCGTACACCTGCGAGTGTTCCAATCTCTCCCTCATGAAAACA
200503569	98707	NM_000303.2(PMM2):c.323C>T (p.Ala108Val)	PMM2	Jul 05, 2017	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002;MedGen:CN517202	Carbohydrate-deficient glycoprotein syndrome type I;not provided	germline	16	8806383	ATTTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGTGGGT
121912933	32230	NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter)	COL5A1	Jun 01, 2000	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009	Ehlers-Danlos syndrome, classic type	germline	9	134774901	CCCCAGGGTCCGATTGGCTACCCAGGTCCTCGAGGAGTCAAGGTGAGAGAGACTCACGCCA
727503253	175612	NM_000257.3(MYH7):c.2710C>T (p.Arg904Cys)	MYH7	Feb 18, 2016	MedGen:C1834481,OMIM:613426;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004	Dilated cardiomyopathy 1S;Primary dilated cardiomyopathy	germline	14	23424119	GAACAAGACAACCTGGCAGATGCTGAGGAGCGCTGTGATCAGCTGATCAAAAACAAGATTC
769518471	429204	NM_000352.4(ABCC8):c.2992C>T (p.Arg998Ter)	ABCC8	Nov 25, 2015	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005;MedGen:CN517202	Persistent hyperinsulinemic hypoglycemia of infancy;not provided	germline	11	17407058	ATGCTGCACCAGCGTGCTGAGATCCCATGGCGAGCCTGCGCCAAGTACCTGTCCTCCGCCG
1057523601	373889	NM_001271.3(CHD2):c.4999C>T (p.Gln1667Ter)	CHD2	Dec 06, 2016	MedGen:CN517202	not provided	germline	15	93020104	TGGGGAAGCGACAGGCACCATCAGTATGAGCAGCACTGGTACAAGGACCACCATTATGGGG
397516463	52805	NM_001001430.2(TNNT2):c.388C>T (p.Arg130Cys)	TNNT2	Jul 11, 2017	MedGen:CN230736;MedGen:C1861864,OMIM:115195;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided	germline	1	201364369	GTGGGCTTTGCCTCTTCTCCTTAGGAGAGACGTCGGGCAGAGCGGGCCGAGCAGCAGCGCA
587777420	137078	NM_015509.3(NECAP1):c.142C>T (p.Arg48Ter)	NECAP1	Dec 01, 2014	MedGen:C4014430,OMIM:615833	Early infantile epileptic encephalopathy 21	germline	12	8089982	TTAGACCAGCCTGATTGGACTGGTCGCCTCCGAATCACTTCAAAAGGGAAGACTGCCTATA
104894909	26465	NM_001129765.1(NSDHL):c.314C>T (p.Ala105Val)	NSDHL	Feb 01, 2011	MedGen:C0265267,OMIM:308050,Orphanet:ORPHA139,SNOMED CT:17608003	Child syndrome	germline	X	152858816	TGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGA
104894428	19378	NM_014239.3(EIF2B2):c.512C>T (p.Ser171Phe)	EIF2B2	Jun 01, 2003	MedGen:C1847967,Orphanet:ORPHA99853	Ovarioleukodystrophy	germline	14	75004815	CCAATGAGGTGATCATGACCATTGGCTTCTCCCGAACAGTAGAGGCCTTCCTCAAAGAGGC
750922282	434502	NM_205768.2(ZBTB18):c.1390C>T (p.Arg464Cys)	ZBTB18	Oct 04, 2017	Gene:100190984,MedGen:C2676727,OMIM:612337	Mental retardation, autosomal dominant 22	germline	1	244055164	AAGAGCTTCCAGTACTCGCACAACCTGAGCCGCCATGCCGTGGTGCACACCCGCGAGAAGC
121913344	151858	NM_000546.5(TP53):c.916C>T (p.Arg306Ter)	TP53	Sep 18, 2017	MeSH:D015179,MedGen:CN236642;MeSH:D006258,MedGen:C0018671,Orphanet:ORPHA290849;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:CN517202	Colorectal Neoplasms;Head and Neck Neoplasms;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;not provided	germline;somatic	17	7673704	CACCACGAGCTGCCCCCAGGGAGCACTAAGCGAGGTAAGCAAGCAGGACAAGAAGCGGTGG
72653170	32386	NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)	COL1A1	May 19, 2017	MedGen:C0020497,OMIM:114000,Orphanet:ORPHA1310,SNOMED CT:24752008;MedGen:CN517202	Infantile cortical hyperostosis;not provided	germline	17	50188908	GGATTGGCTGGACCCCCTGGTGAATCTGGACGTGAGGTGAGCAGTCCCCAGCCCCCATGCC
1057518956	360918	NM_030751.5(ZEB1):c.973C>T (p.Arg325Ter)	ZEB1	Jan 14, 2014	Human Phenotype Ontology:HP:0000501,MedGen:C1962986;Human Phenotype Ontology:HP:0007915,MedGen:C0339284,Orphanet:ORPHA98973,SNOMED CT:29504002;Human Phenotype Ontology:HP:0000572,MedGen:C3665386	Glaucoma;Polymorphous corneal dystrophy;Visual loss	unknown	10	31520308	TCTCTTTCAGCATCACCAGGCAGTCCCACACGACCACAGATACGGCAAAAGATAGAGAATA
776686983	455431	NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter)	DNAH5	Aug 07, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13900241	TCTCCACTGGCAACTTCCCTCTTCCAGAAACGAGATAGATACAAAAGGAACTTCAGTAACA
786201066	181940	NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter)	MSH2	Feb 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	2	47445622	ACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGG
74315401	28434	NM_000311.4(PRNP):c.305C>T (p.Pro102Leu)	PRNP	Dec 18, 2008	MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C0017495,OMIM:137440,Orphanet:ORPHA356,SNOMED CT:67155006	Genetic prion diseases;Gerstmann-Straussler-Scheinker syndrome	germline	20	4699525	GAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACAT
886041459	264989	NM_006086.3(TUBB3):c.689C>T (p.Ser230Leu)	TUBB3	Jul 06, 2016	MedGen:CN517202	not provided	germline	16	89935140	CCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTT
1114167547	419645	NM_000038.5(APC):c.3571C>T (p.Gln1191Ter)	APC	Mar 14, 2013	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112839165	TTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTT
724159973	172098	NM_052874.4(STX1B):c.166C>T (p.Gln56Ter)	STX1B	Dec 01, 2014	MedGen:C4015395,OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9	germline	16	31001133	CTGTCGGAGGATGTGGAGCAGGTGAAAAAACAGCATAGCGCCATCCTGGCCGCACCCAACC
120074154	17864	NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter)	VPS13B	Jul 01, 2004	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	germline	8	99854202	GAAAGAGGACCCATCTTCACCACTGCGAGGCAGCTTGTGCACGCCCTGGCAATGCACTATG
398123999	100584	NM_004006.2(DMD):c.583C>T (p.Arg195Ter)	DMD	Apr 18, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;not provided	germline	X	32809559	AGTGTGGTTTGCCAGCAGTCAGCCACACAACGACTGGAACATGCATTCAACATCGCCAGAT
132630280	26115	NM_001128834.2(PLP1):c.467C>T (p.Thr156Ile)	PLP1	Jan 01, 1991	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000	Pelizaeus-Merzbacher disease	germline	X	103787811	CATGTCAATCATTTTAGTTTGTGGGCATCACCTATGCCCTGACCGTTGTGTGGCTCCTGGT
869312806	226373	NM_004174.3(SLC9A3):c.932C>T (p.Ala311Val)	SLC9A3	Oct 06, 2016	MedGen:CN515063,OMIM:616868	Diarrhea 8, secretory sodium, congenital	germline	5	484520	CCGAGATGCTGTCGCTGTCGGCCATCCTCGCGTGAGTCCCTCCCACACACGCGAGCTTCTC
60343255	77357	NM_002055.4(GFAP):c.208C>T (p.Arg70Trp)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915279	GCTGGCTTCAAGGAGACCCGGGCCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCT
121909227	22866	NM_000314.6(PTEN):c.640C>T (p.Gln214Ter)	PTEN	Jan 03, 2017	MedGen:C0265326,OMIM:153480,Orphanet:ORPHA109;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548	Bannayan-Riley-Ruvalcaba syndrome;Hereditary cancer-predisposing syndrome;Macrocephaly/autism syndrome	germline;tested-inconclusive	10	87957858	TACTGGTATGTATTTAACCATGCAGATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGA
878854485	238783	NM_002354.2(EPCAM):c.133C>T (p.Gln45Ter)	EPCAM	Feb 01, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47373519	GCCGTAAACTGCTTTGTGAATAATAATCGTCAATGCCAGTGTACTTCAGTTGGTGCACAAA
755310507	259634	NM_000702.3(ATP1A2):c.2500C>T (p.Arg834Ter)	ATP1A2	Aug 11, 2016	MedGen:CN517202	not provided	germline	1	160136307	GCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATG
72554620	21139	NM_004820.4(CYP7B1):c.1162C>T (p.Arg388Ter)	CYP7B1	Feb 15, 2017	MedGen:C3151147,OMIM:613812,Orphanet:ORPHA79302;MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986	Bile acid synthesis defect, congenital, 3;Spastic paraplegia 5A	not provided	8	64604753	CTCAGTTCAGAGACCGGGGACTACTGTGTGCGAAAGGGAGACTTGGTAGCCATCTTTCCTC
28931610	31880	NM_004415.3(DSP):c.7096C>T (p.Arg2366Cys)	DSP	Feb 01, 2002	MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165	Skin fragility woolly hair syndrome	germline	6	7584358	AAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGG
886041830	247753	NM_001429.3(EP300):c.3163C>T (p.Arg1055Ter)	EP300	Jul 01, 2016	MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284;MedGen:CN517202	Rubinstein-Taybi syndrome 2;not provided	germline;unknown	22	41155015	TTTTTTTAAGTTTTCAAACCAGAAGAACTACGACAGGCACTGATGCCAACTTTGGAGGCAC
121908617	21082	NM_004273.4(CHST3):c.664C>T (p.Arg222Trp)	CHST3	Oct 01, 2010	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72007695	GAGGACCACCTGACTCAGTTCATGTTCCGCCGGGGCTCCAGCCGCTCCCTGTGCGAGGACC
1003869920	431574	NM_206933.2(USH2A):c.13576C>T (p.Arg4526Ter)	USH2A	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	1	215674335	GGGGGTATTTTGAGTCCTCTTGTCAAAGATCGAACCAGCCCCTCAGCACCCTCAGGGATGG
80338758	26559	NM_005120.2(MED12):c.2881C>T (p.Arg961Trp)	MED12	Jan 27, 2016	Human Phenotype Ontology:HP:0001999,MedGen:C0424503;Human Phenotype Ontology:HP:0001274,MedGen:C1837248;Human Phenotype Ontology:HP:0011304,MedGen:C0426891;MedGen:C0220769,OMIM:305450,SNOMED CT:49984004;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0002023,MedGen:C0003466,OMIM:207500,SNOMED CT:204731006;Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Abnormal facial shape;Agenesis of corpus callosum;Broad thumb;FG syndrome;Global developmental delay;Imperforate anus;Intellectual disability	germline;unknown	X	71127367	CTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTA
886041876	265043	NM_031407.6(HUWE1):c.9208C>T (p.Arg3070Cys)	HUWE1	Jan 18, 2017	MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328;MedGen:CN517202	Mental retardation, X-linked, syndromic, turner type;not provided	de novo;germline	X	53551078	ACCTTCATCCAGACTCTGCCCTCAGACCTGCGCCGTAGTGTCCTAGAGGATATGGAGGACA
587777854	166310	NM_006702.4(PNPLA6):c.3295C>T (p.Arg1099Cys)	PNPLA6	Oct 01, 2014	MedGen:C1859093,OMIM:215470,Orphanet:ORPHA1180	Boucher Neuhauser syndrome	germline	19	7558861	GACCCCCCTGGCCCCACAGCGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCA
199473538	78298	NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp)	KCNH2	Dec 25, 2015	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007	Congenital long QT syndrome;Long QT syndrome	germline	7	150948981	GCAAGGCCTGGCAAGTCGAACGGGGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGA
121918212	16105	NM_018122.4(DARS2):c.1837C>T (p.Leu613Phe)	DARS2	Apr 01, 2007	MedGen:C1970180,OMIM:611105,Orphanet:ORPHA137898	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	germline	1	173857604	GCCTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATACCCCAGATTCTGTCCCTC
267606673	26833	NM_000052.6(ATP7A):c.2981C>T (p.Thr994Ile)	ATP7A	Mar 12, 2010	MedGen:C1845359,OMIM:300489,Orphanet:ORPHA139557	Distal spinal muscular atrophy, X-linked 3	germline	X	78029314	TAATACGATTTGCTTTCCAAGCCTCTATCACAGTTCTGTGTATTGCATGTCCCTGTTCACT
104895081	17583	NM_000243.2(MEFV):c.800C>T (p.Thr267Ile)	MEFV	Feb 10, 2016	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009	Familial Mediterranean fever	germline	16	3254268	CAGAAATTCTCCTGACTCTAGAGGAAAAGACAGCTGCGAATCTGGACTCGGCAACAGAACC
587780071	133274	NM_000546.5(TP53):c.580C>T (p.Leu194Phe)	TP53	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MeSH:D002583,MedGen:CN236667;MedGen:CN517202	Adenocarcinoma of lung;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms;not provided	germline;somatic	17	7674951	TTGCTCTTAGGTCTGGCCCCTCCTCAGCATCTTATCCGAGTGGAAGGAAATTTGCGTGTGG
-1	473413	NM_000249.3(MLH1):c.589C>T (p.Gln197Ter)	MLH1	Jan 30, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	37012011	TCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGACAC
116840819	33934	NM_000166.5(GJB1):c.223C>T (p.Arg75Trp)	GJB1	May 10, 2016	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71223930	TATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTT
80358232	20718	NM_001169109.1(SCO2):c.674C>T (p.Ser225Phe)	SCO2	Nov 01, 1999	MedGen:C1858424,OMIM:604377,Orphanet:ORPHA1561	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	germline	22	50523738	ATGAGGACCAGGACTACATCGTGGACCACTCCATTGCCATCTACCTGCTCAACCCTGACGG
746165168	239824	NM_004168.3(SDHA):c.1054C>T (p.Arg352Ter)	SDHA	Oct 24, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208;MedGen:C3279992,OMIM:614165	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5	germline	5	233635	GTGGTGTCTCGGTCCATGACTCTGGAGATCCGAGAAGGAAGGTGCGTGTGATTTACCACCA
369517993	76482	NM_000187.3(HGD):c.140C>T (p.Ser47Leu)	HGD	Aug 22, 2013	MedGen:C0002066,OMIM:203500,Orphanet:ORPHA56	Alkaptonuria	not provided	3	120674937	ACAATCTCTATGCTGAGCAGCTCTCAGGATCGGCTTTCACTTGTCCACGGAGCACCAATAA
281875188	38971	NM_003070.4(SMARCA2):c.2648C>T (p.Pro883Leu)	SMARCA2	Feb 26, 2012	MedGen:C1303073,OMIM:601358,Orphanet:ORPHA3051,SNOMED CT:401046009;MedGen:CN517202	Nicolaides-Baraitser syndrome;not provided	germline	9	2086950	CCCCCAGAAGGATCCTCTTGACTGGGACCCCGCTGCAGAATAAGCTCCCTGAACTCTGGGC
201780665	452209	NM_181426.1(CCDC39):c.1795C>T (p.Arg599Ter)	CCDC39	Jun 03, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	3	180642072	AAACAGCAATTATACACAGCAATGGAAGAGCGAACTGAAGAAATCAAGGTTCATAAAACAA
-1	444735	NM_001197104.1(KMT2A):c.10171C>T (p.Gln3391Ter)	KMT2A	Jul 25, 2017	MedGen:CN517202	not provided	germline	11	118506063	ATAAGCAATCTTTTAATCAAAGCTAGCCAGCAGAGCCTGGGGATTCAGGACCAGCCTGTGG
104886241	35984	NM_000495.4(COL4A5):c.3538C>T (p.Gln1180Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108666579	GGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTTTTC
374621913	358524	NM_000199.3(SGSH):c.697C>T (p.Arg233Ter)	SGSH	Jul 17, 2017	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006;MedGen:C0026706,SNOMED CT:88393000	Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome	germline;unknown	17	80213852	CCTTACTTCGTCCCCAACACCCCGGCAGCCCGAGCCGACCTGGCCGCTCAGTACACCACCG
119480072	19950	NM_145693.3(LPIN1):c.1162C>T (p.Arg388Ter)	LPIN1	Oct 01, 2008	MedGen:C1849386,OMIM:268200	Myoglobinuria, acute recurrent, autosomal recessive	germline	2	11783834	TGACTTGAGCCATTTGCCGTTTTAGATAAACGAAGCCGACATCTTGGTGCTGACGGCGTCT
1060500716	404124	NM_001456.3(FLNA):c.3668C>T (p.Pro1223Leu)	FLNA	Jun 29, 2017	MedGen:C0265293,OMIM:305620,Orphanet:ORPHA1826,SNOMED CT:62803002;MedGen:C0025237,OMIM:309350,Orphanet:ORPHA2484,SNOMED CT:13449007;MedGen:C1844696,OMIM:304120,Orphanet:ORPHA90652,SNOMED CT:42432003;MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Frontometaphyseal dysplasia;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	germline	X	154360127	GTGATGGCACGCACACCATTACCTACATTCCCCTCTGCCCCGGGGCCTACACCGTCACCAT
776529713	474964	NM_000136.2(FANCC):c.946C>T (p.Gln316Ter)	FANCC	Aug 08, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	9	95125136	GATGGGGCCCTGGAAATCATAGCCACTATTCAGGTGTTTACGCAGTGCTTTGTAGAAGCTC
-1	432083	NM_014112.4(TRPS1):c.1105C>T (p.Gln369Ter)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115604864	TCATCCACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAATAAAAGCTTCTC
193922803	136930	NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp)	RYR1	Nov 15, 2017	Human Phenotype Ontology:HP:0003789,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905;MedGen:CN517202	Minicore myopathy;not provided	germline;paternal;unknown	19	38499670	AGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCG
121907916	18505	NM_000280.4(PAX6):c.607C>T (p.Arg203Ter)	PAX6	Feb 07, 2018	MedGen:C0344542,OMIM:106210;MedGen:C0344542,OMIM:106210;Human Phenotype Ontology:HP:0000659,MedGen:C0344559,OMIM:604229,SNOMED CT:204153003	Aniridia 1;Aniridia 1;Irido-corneo-trabecular dysgenesis	de novo;germline;maternal;unknown	11	31794705	AACGGAGAAGATTCAGATGAGGCTCAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAA
267606700	15322	NM_001159772.1(CANT1):c.896C>T (p.Pro299Leu)	CANT1	Nov 01, 2009	MedGen:C4012146,OMIM:251450	Desbuquois dysplasia 1	germline	17	78993860	GTGACACGCTGCAGCGCTGGTTCTTCCTGCCGCGCCGCGCCAGCCAGGAGCGCTACAGCGA
137852609	24497	NM_000211.4(ITGB2):c.1777C>T (p.Arg593Cys)	ITGB2	Mar 01, 1990	MedGen:C0272187	Leukocyte adhesion deficiency	germline	21	44889376	CTGAACCCGCGGCGTGTTGAGTGTAGTGGTCGTGGCCGGTGCCGCTGCAACGTATGCGAGT
371387815	183051	NM_000314.6(PTEN):c.892C>T (p.Gln298Ter)	PTEN	Jun 09, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87960984	GAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGC
267606866	15122	NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter)	HPSE2	Aug 22, 2013	MedGen:C0403555,OMIM:236730,SNOMED CT:236533008	Ochoa syndrome	germline	10	98482733	TCCATTACACTTTTTATCATCAACTTGCATCGATCAAGAAAGAAAATCAAGCTGGCTGGGA
137852966	19594	NM_153638.3(PANK2):c.832C>T (p.Arg278Cys)	PANK2	Aug 01, 2001	MedGen:C2751506	Neurodegeneration with brain iron accumulation 1, atypical	germline	20	3908129	CTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTC
80338721	34360	NM_014251.2(SLC25A13):c.1078C>T (p.Arg360Ter)	SLC25A13	Jan 05, 2012	MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598	Neonatal intrahepatic cholestasis caused by citrin deficiency	not provided	7	96184376	GATCTTGTAAAAACTCGAATGCAGAACCAACGATCAACTGGCTCTTTTGTGGGAGAACTCA
199469707	40137	NM_001044385.2(TMEM237):c.52C>T (p.Arg18Ter)	TMEM237	Oct 05, 2012	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C3280766,OMIM:614424	Joubert syndrome;Joubert syndrome 14	germline	2	201640915	AATTTATTTTTTCCGCCACAGCGTCCTCCACGAGCTCTTCCACCTGTGCCAAGGTAAAAAT
201363394	480576	NM_000062.2(SERPING1):c.1198C>T (p.Arg400Cys)	SERPING1	Jan 10, 2018	MedGen:C2717906,OMIM:106100,SNOMED CT:234619000	Hereditary angioedema type 1	germline	11	57611885	AAGTTCCAGCCCACTCTCCTAACACTACCCCGCATCAAAGTGACGACCAGCCAGGATATGC
149105551	404915	NM_002016.1(FLG):c.5392C>T (p.Arg1798Ter)	FLG	Feb 23, 2017	MedGen:CN517202	not provided	germline	1	152309494	GGAAGACAAAGATCCCGCCACGAGCAGGCACGAGACAGCTCCAGGCACTCAGCGTCCCAAG
755806668	473713	NM_000038.5(APC):c.2656C>T (p.Gln886Ter)	APC	Jun 24, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112838250	CGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAG
397517889	57195	NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys)	LMNA	Jun 28, 2017	MedGen:CN043576;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Primary dilated cardiomyopathy;not provided	germline	1	156136093	CTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGT
587777036	76337	NM_004426.2(PHC1):c.2974C>T (p.Leu992Phe)	PHC1	Dec 01, 2014	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C3809431,OMIM:615414;MedGen:C0431350	Intellectual disability;Primary autosomal recessive microcephaly 11;Primary microcephaly	germline	12	8939418	AGTGCCATGAACATCAAGCTGGGCCCTGCCCTCAAGATCTGCGCCAAGATAAATGTCCTCA
104893850	29920	NM_002448.3(MSX1):c.577C>T (p.Gln193Ter)	MSX1	Aug 01, 2004	MedGen:C3489529,OMIM:106600	Selective tooth agenesis 1	germline	4	4862808	CAGCTGCTGGCGCTGGAGCGCAAGTTCCGCCAGAAGCAGTACCTGTCCATCGCCGAGCGCG
587779467	106905	NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189010201	TATTCAGGAGAATACTGGGTTGACCCTAACCAAGGATGCAAATTGGATGCTATCAAGGTAT
193922955	40422	NM_001165928.3(DAG1):c.575C>T (p.Thr192Met)	DAG1	May 13, 2011	MedGen:C3151184,OMIM:613818,Orphanet:ORPHA280333;MedGen:CN517202	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not provided	germline;unknown	3	49531086	GTGCTGCGGATGAACCTGTGACTGTTTTGACGGTGATTTTGGATGCCGACCTCACCAAGAT
587779380	97521	NM_001166419.1(HDAC8):c.356C>T (p.Thr119Met)	HDAC8	Dec 02, 2014	MedGen:C3550903,OMIM:300882	Cornelia de Lange syndrome 5	de novo;germline	X	72567970	TTGACTATGCAGCAGCTATAGGAGGGGCTACGATCACAGCTGCCCAATGCCTGATTGACGG
111426349	27565	NM_004612.3(TGFBR1):c.1459C>T (p.Arg487Trp)	TGFBR1	Sep 30, 2016	MedGen:C2697932,Orphanet:ORPHA60030,SNOMED CT:446263001;MedGen:C2697933,OMIM:609192;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection;not provided	germline	9	99149252	GCCAATGGAGCAGCTAGGCTTACAGCATTGCGGATTAAGAAAACATTATCGCAACTCAGTC
375422404	264191	NM_000128.3(F11):c.1489C>T (p.Arg497Ter)	F11	Apr 26, 2016	MedGen:CN517202	not provided	germline	4	186286423	AACCACGATTTTTTAAATTTAGATTCTCAACGACCCATATGCCTGCCTTCCAAAGGAGATA
199474789	39949	NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe)	NF1	Jun 30, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:C2931482,OMIM:601321,Orphanet:ORPHA638;MedGen:CN517202	Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;not provided	germline	17	31258401	AGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCAGATTTATCAATCCTGCCATTGTCTCAC
-1	488156	NM_006772.2(SYNGAP1):c.739C>T (p.Gln247Ter)	SYNGAP1	Dec 08, 2016	MedGen:C2675473,OMIM:612621	Mental retardation, autosomal dominant 5	de novo	6	33435590	GCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGTATTGG
1060501880	402169	NM_000135.2(FANCA):c.2749C>T (p.Arg917Ter)	FANCA	Sep 28, 2016	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002	Fanconi anemia	germline	16	89764919	GCCCTCTCTCTCTGGACACACAGAACCTTCCGAGAGGTGTTGAAAGAGGAAGATGTTCACG
863225454	214848	NM_016218.3(POLK):c.410C>T (p.Ser137Phe)	POLK	Jul 08, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75573739	TTTTTTCCATGTGGTCAATTTTCTTTCAGTCTACTTCAAATTACCATGCAAGGAGATTTGG
28937568	22519	NM_001540.4(HSPB1):c.452C>T (p.Thr151Ile)	HSPB1	Jun 01, 2004	MedGen:C2608087,OMIM:608634	Distal hereditary motor neuronopathy type 2B	germline	7	76304007	CGTCCAGGCTGCCCCCCGGTGTGGACCCCACCCAAGTTTCCTCCTCCCTGTCCCCTGAGGG
747900131	454630	NM_001369.2(DNAH5):c.1432C>T (p.Arg478Ter)	DNAH5	Apr 19, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13913847	TATATTTTTGGAAAATTCGAAACTTTTCACCGACGCCTTGCCAAGATAATAGACATCTTTA
200826424	247426	NM_018191.3(RCBTB1):c.973C>T (p.His325Tyr)	RCBTB1	Nov 01, 2016	na;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES;Retinitis pigmentosa	germline	13	49549530	GGTCAGTCCGTGATCCTCCCGCACCTCACCCACTTCTCCTGCACCGACGACGTGTTTGCCT
587784339	169779	NM_003560.3(PLA2G6):c.1903C>T (p.Arg635Ter)	PLA2G6	Mar 30, 2017	Human Phenotype Ontology:HP:0012675,MedGen:C4021076;MedGen:CN517202	Iron accumulation in brain;not provided	germline	22	38115658	CCCCTAGACCAGCTGGTGTGGCGGGCGGCCCGAAGCAGCGGGGCAGCTCCTACTTACTTCC
142947311	474222	NM_005732.3(RAD50):c.2014C>T (p.Gln672Ter)	RAD50	Apr 21, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132595617	GCCACAGCAGTTTACTCCCAGTTCATTACTCAGCTAACAGACGAAAACCAGTCATGTTGCC
104894657	18300	NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)	MC2R	Jul 01, 1994	MedGen:C4049650,OMIM:202200	ACTH resistance	germline	18	13885137	ATCTTCAGCCTGTCTGTGATTGCTGCGGACCGCTACATCACCATCTTCCACGCACTGCGGT
80357211	70429	NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43094582	AAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAA
137853591	28669	NM_000294.2(PHKG2):c.433C>T (p.His145Tyr)	PHKG2	May 01, 2000	MedGen:C2751643,OMIM:613027,Orphanet:ORPHA264580	Glycogen storage disease IXc	germline	16	30753434	CGGTCTCTGCTGGAAGCAGTGAGCTTTCTCCATGCCAACAACATTGTGCATCGAGATCTGA
104893901	24044	NM_004387.3(NKX2-5):c.508C>T (p.Gln170Ter)	NKX2-5	Nov 10, 2016	MedGen:C1862388,OMIM:108900	Atrial septal defect 7 with or without atrioventricular conduction defects	germline	5	173233036	CAGCGGTACCTGTCGGCCCCCGAACGCGACCAGCTGGCCAGCGTGCTGAAACTCACGTCCA
121918624	27928	NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter)	SCN1A	Jan 01, 2018	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	de novo;germline;unknown	2	166052882	GTCTCGGCATTGAGAACATTCAGAGTTCTCCGAGCATTGAAGACGATTTCAGTCATTCCAG
1057518644	361294	NM_152419.2(HGSNAT):c.1360C>T (p.Gln454Ter)	HGSNAT	Mar 01, 2016	MedGen:C0086649,OMIM:252930,Orphanet:ORPHA79271,SNOMED CT:75238000	Mucopolysaccharidosis, MPS-III-C	inherited	8	43192413	CGCCTGCTGCTGGGAGACGATCACCTTTACCAGCACCCATCTTCTGCTGTGAGTGAGACTC
886043155	269850	NM_001305581.1(LRMDA):c.256C>T (p.Arg86Ter)	LRMDA	Jan 21, 2016	MedGen:C3808786,OMIM:615179	Albinism, oculocutaneous, type VII	germline	10	76036132	AGACTGCATACCTTAACCCTCAACAAGAACCGAATATCCTTTCCTCTGCCCGCTGCCCCCA
764409952	484230	NM_000051.3(ATM):c.2734C>T (p.Gln912Ter)	ATM	Oct 02, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108268505	AAGTTCTTGTGTTTGTGTGTAACTACTGCTCAGACCAATACTGTGTCCTTTAGGGCAGCTG
794727198	191971	NM_000182.4(HADHA):c.1918C>T (p.Gln640Ter)	HADHA	Nov 24, 2014	MedGen:CN074230,OMIM:609016;MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency	germline	2	26192392	CGTAAATCTGGGAAGGGCTTTTACATCTATCAGGAGGGTGTGAAGAGGAAGGATTTGAATT
727502769	172189	NM_005360.4(MAF):c.173C>T (p.Thr58Ile)	MAF	Apr 01, 2016	MedGen:C1832812,OMIM:601088,Orphanet:ORPHA477668;MedGen:CN517202	Ayme-gripp syndrome;not provided	germline	16	79599730	GTCTCATCGCCGGGGGCTCGCTGTCCTCCACCCCCATGAGCACGCCGTGCAGCTCGGTGCC
1131691668	422219	NM_030632.2(ASXL3):c.3106C>T (p.Arg1036Ter)	ASXL3	Sep 29, 2017	MedGen:C3809650,OMIM:615485,Orphanet:ORPHA352577;MedGen:CN517202	Bainbridge-Ropers syndrome;not provided	de novo;germline	18	33742954	AAGAGCCAACCAGTCTCCAAACCTGAGTCTCGAGCATCCACTAGCACATCTGTCAGTGGCG
786205748	188554	NM_000719.6(CACNA1C):c.1552C>T (p.Arg518Cys)	CACNA1C	Jul 12, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	12	2566465	CGGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACT
398123418	99035	NM_000487.5(ARSA):c.986C>T (p.Thr329Ile)	ARSA	Nov 26, 2012	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	germline	22	50626057	GACTGACCAGCCTCCTGCCCCCAGGCGTGACCCACGAGCTGGCCAGCTCCCTGGACCTGCT
587777673	153829	NM_005876.4(SPEG):c.4276C>T (p.Arg1426Ter)	SPEG	Aug 07, 2014	MedGen:C4014814,OMIM:615959	Myopathy, centronuclear, 5	germline	2	219473732	TGACCTCCCTGTCATGTGTCCCCTAGCTGCCGAGGGGCCCTCCTAGAGGCACGGGCCGGTG
777483913	269707	NM_000070.2(CAPN3):c.1309C>T (p.Arg437Cys)	CAPN3	Apr 18, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42399607	CAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCT
72558455	103233	NM_000531.5(OTC):c.835C>T (p.Gln279Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408993	GGACAAGAAGAGGAGAAGAAAAAGCGGCTCCAGGCTTTCCAAGGTTACCAGGTTACAATGA
63751180	104069	NM_002087.3(GRN):c.1252C>T (p.Arg418Ter)	GRN	Aug 07, 2015	MedGen:CN517202	not provided	germline	17	44352087	TACACGTGTGTAGCTGAGGGGCAGTGTCAGCGAGGAAGCGAGATCGTGGCTGGACTGGAGA
768825050	205036	NM_022406.3(XRCC4):c.673C>T (p.Arg225Ter)	XRCC4	Jul 23, 2015	MedGen:C4225288,OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	germline	5	83204849	ACTGCAATCTGTTCTGAAATGACTGCTGACCGAGATCCAGTCTATGATGAGAGTACTGATG
-1	477752	NM_004360.4(CDH1):c.529C>T (p.Gln177Ter)	CDH1	Mar 14, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68808565	GAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTG
768134055	367160	NM_053025.3(MYLK):c.2119C>T (p.Gln707Ter)	MYLK	Mar 21, 2015	MedGen:CN517202	not provided	germline	3	123708719	GCCTGGAACAGCGCTGGAGAGGTCCGCACCCAGGCCGTGCTCACGGTACAAGGTGAGGCTG
587777387	136552	NM_001615.3(ACTG2):c.769C>T (p.Arg257Cys)	ACTG2	Nov 04, 2016	MedGen:C0238062,Orphanet:ORPHA2978;MeSH:D030342,MedGen:C0950123;Human Phenotype Ontology:HP:0000021,MedGen:C1855311;MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241;MedGen:CN517202	Chronic intestinal pseudoobstruction;Inborn genetic diseases;Megacystis;Visceral myopathy;not provided	de novo;germline;maternal	2	73914835	CAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCT
145665129	16118	NM_015272.4(RPGRIP1L):c.2413C>T (p.Arg805Ter)	RPGRIP1L	Feb 23, 2015	MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454;MedGen:C1969053,OMIM:611560	COACH syndrome;Joubert syndrome 7	germline;unknown	16	53645895	ACAATAAGATGTTGCAACCACCTGCAGTCCCGAGCAAGCCACCTGCAGCCACACCCATATG
-1	431883	NM_000382.2(ALDH3A2):c.103C>T (p.Gln35Ter)	ALDH3A2	Jun 01, 2017	MedGen:C0037231,OMIM:270200,Orphanet:ORPHA816,SNOMED CT:111303009	Sjögren-Larsson syndrome	germline	17	19649074	CAGCAGCTGGAGGCCCTGCGGAGGATGGTGCAGGAGCGCGAGAAGGATATCCTGACGGCCA
387907077	39942	NM_015338.5(ASXL1):c.2773C>T (p.Gln925Ter)	ASXL1	Jun 26, 2011	MedGen:C0796232,OMIM:605039	C-like syndrome	germline	20	32435485	TCCAGAGAACACATACCATCTGTTGAGCCCCAGGTTGGAGAGGAGTGGGAGAAAGCTGCTC
267608241	191328	NM_000287.3(PEX6):c.2440C>T (p.Arg814Ter)	PEX6	Apr 13, 2015	MedGen:C3553936,OMIM:614862	Peroxisome biogenesis disorder 4a (zellweger)	germline	6	42965712	GAACTGGACTCTTTGGCCCCAAGCCGGGGGCGAAGTGGAGATTCTGGAGGAGTGATGGACA
869312746	226221	NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter)	NPHS2	Jan 01, 2016	MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656	Nephrotic syndrome, idiopathic, steroid-resistant	unknown	1	179575750	GCCGAGAGGAGCGGCGGAGGCCGCGGGCGCCAGGAGGCTGGGCCCGAGCCGTCGGGCTCCG
762909359	196419	NM_004946.2(DOCK2):c.3970C>T (p.Gln1324Ter)	DOCK2	Jun 18, 2015	MedGen:C4225328,OMIM:616433,Orphanet:ORPHA447737	Immunodeficiency 40	germline	5	170047513	GCAACAAACCTTGTTTTCTTCCTTTAGATCCAGCAGGCAAAATTCTATGAAAGCATCATGA
727503776	178386	NM_006306.3(SMC1A):c.121C>T (p.Leu41Phe)	SMC1A	Dec 02, 2014	MedGen:C1854630,OMIM:605130,Orphanet:ORPHA319182	Wiedemann-Steiner syndrome	maternal	X	53415158	CTCGTCCCTCTTCCCTTAGGTAAGTCAAATCTCATGGATGCCATCAGCTTTGTGCTAGGTG
121917889	26710	NM_005333.4(HCCS):c.649C>T (p.Arg217Cys)	HCCS	Aug 18, 2011	MedGen:C0796070,OMIM:309801	Linear skin defects with multiple congenital anomalies 1	germline	X	11121652	CCTTTTGATAGGCACGATTGGATCATAAACCGTTGCGGGACAGAAGTTAGATATGTGATTG
886042091	265300	NM_003494.3(DYSF):c.3478C>T (p.Gln1160Ter)	DYSF	Sep 28, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;not provided	germline	2	71590246	AACCGCTACCATCTACGCTGCTACATGTACCAGGCCCGGGACCTGGCTGCGATGGACAAGG
137852920	18440	NM_015102.4(NPHP4):c.2044C>T (p.Arg682Ter)	NPHP4	Dec 01, 2014	MedGen:CN228268;Human Phenotype Ontology:HP:0000789,MedGen:C0021359;MedGen:C1847013,OMIM:606966	Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities);Infertility;Nephronophthisis 4	germline	1	5904716	TTCTACCGCTTCCCACCCGCAACGACGCCACGACTGCAGCTGGTCCAGCTGGATGAGGCCG
878854990	238765	NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys)	SPAST	Oct 09, 2016	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32136933	AGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTG
770558150	207022	NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter)	ALMS1	Sep 10, 2016	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009;MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome;Alstrom syndrome	germline	2	73452960	CCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGG
794727607	194226	NM_001844.4(COL2A1):c.2530C>T (p.Gln844Ter)	COL2A1	Jan 28, 2015	MedGen:C2020284,OMIM:108300	Stickler syndrome type 1	germline	12	47980649	TCCTCCTTCCCATTATAGGGTGCTGATGGCCAGCCTGGGGCCAAGGGTGAGCAAGGAGAGG
587781576	150922	NM_005732.3(RAD50):c.643C>T (p.Gln215Ter)	RAD50	Sep 17, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132579953	GAATATCAAATGGAACTAAAATATCTGAAGCAATATAAGGAAAAAGCTTGTGAGATTCGTG
587777682	153864	NM_019105.6(TNXB):c.12214C>T (p.Arg4072Cys)	TNXB	Aug 01, 2013	MedGen:C1848029,OMIM:606408,Orphanet:ORPHA230839	Ehlers-Danlos-like syndrome due to tenascin-X deficiency	germline	6	32042353	GTGCCCCCACTTGCTTCCCAGGTGTTCCAGCGCCGCATGGATGGACAGACAGACTTCTGGA
779702016	361745	NM_003245.3(TGM3):c.1351C>T (p.Gln451Ter)	TGM3	Jan 05, 2017	MedGen:C4310649,OMIM:617251	Uncombable hair syndrome 2	germline	20	2332019	TCCCACCACACAGGCTCTGACCAGGAAAGACAAGTGTTCCAAAAGGCTTTGGGGAAACTTA
397515753	51450	NM_000138.4(FBN1):c.1051C>T (p.Gln351Ter)	FBN1	Sep 13, 2012	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48520755	ACAAACGGGCGCTGCTCTAACCAGCTGCCACAGTCCATAACCAAAATGCAGTGCTGCTGTG
754637179	214306	NM_019892.5(INPP5E):c.944C>T (p.Pro315Leu)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136434127	CACCACATGCTCCCTCCTTCCAGGAGCTCCCGCCCAGCCTGGACGAGTTCCTGCTCCCAGC
121908968	21992	NM_016239.3(MYO15A):c.3685C>T (p.Gln1229Ter)	MYO15A	Nov 01, 2001	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18124558	CACGGGGAGGATGGTGTGGAGGACATGACACAGCTGGAGTGAGTGGGCAGGGCCGGCGGGG
730881121	178951	NM_001001430.2(TNNT2):c.239C>T (p.Pro80Leu)	TNNT2	Oct 14, 2014	MedGen:CN517202	not provided	germline	1	201365635	TCATGCCCAACTTGGTGCCTCCCAAGATCCCCGATGGAGAGAGAGTGGACTTTGATGTAAG
863224504	212499	NM_001369.2(DNAH5):c.9502C>T (p.Arg3168Ter)	DNAH5	Apr 01, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13770852	GAGAAGTGTGTTGATTATTTTCAGAGATTCCGACGTTCTACCCACGTGACGCCCAAATCAT
62645904	105472	NM_000372.4(TYR):c.832C>T (p.Arg278Ter)	TYR	Jul 25, 2016	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89191214	TGAGGGTGTTTTGTACAGATTGTCTGTAGCCGATTGGAGGAGTACAACAGCCATCAGTCTT
587783841	170001	NM_000252.2(MTM1):c.614C>T (p.Pro205Leu)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641354	GTGACACTTACCCTGCTCTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAG
1135401791	424673	NM_015339.4(ADNP):c.517C>T (p.Arg173Ter)	ADNP	Jan 06, 2017	MedGen:C4014538,OMIM:615873,Orphanet:ORPHA404448	Helsmoortel-van der aa syndrome	de novo	20	50894197	GCTGTTTATTACTGTAAGAAGTGCACTTACCGAGATCCTCTTTATGAAATAGTTAGGAAGC
80358370	105829	NM_133433.3(NIPBL):c.7327C>T (p.Gln2443Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37057249	GACAATCTAGCCTGTTTTCCATACCAGACACAGGAAGAGCCGTTGTTTATAATGCATCATA
-1	426360	NM_001396.4(DYRK1A):c.601C>T (p.Gln201Ter)	DYRK1A	May 08, 2017	MedGen:CN517202	not provided	germline	21	37486551	AAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGA
80358214	31122	NM_002065.6(GLUL):c.970C>T (p.Arg324Cys)	GLUL	Nov 03, 2005	MedGen:C1864910,OMIM:610015,Orphanet:ORPHA71278	Glutamine deficiency, congenital	germline	1	182384557	GCTGGTGTAGCCAATCGTAGCGCCAGCATACGCATTCCCCGGACTGTTGGCCAGGAGAAGA
72551353	27306	NM_000463.2(UGT1A1):c.1124C>T (p.Ser375Phe)	UGT1A1	Feb 01, 1994	MedGen:C0010324,OMIM:218800,Orphanet:ORPHA79234	Crigler Najjar syndrome, type 1	germline	2	233768259	TGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGG
587777208	107272	NM_001013703.3(EIF2AK4):c.3448C>T (p.Arg1150Ter)	EIF2AK4	Feb 01, 2014	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	40008067	GAACGTGTGTTCAGGCCGCGCAAGTTAGATCGATTTCATCCCAAAGAACTTCTGGAGTGTG
63750006	96059	NM_000251.2(MSH2):c.1255C>T (p.Gln419Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline;unknown	2	47429920	CAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGT
527236036	152911	NM_004830.3(MED23):c.3988C>T (p.Arg1330Ter)	MED23	-	MedGen:C3280265,OMIM:614249	Mental retardation, autosomal recessive 18	inherited	6	131587798	AACTTAAAACCAGCTTTAAAACTTCGTCTTCGATTCATCACACACATTAGCAAGATGGAGC
28931591	32539	NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu)	CHRNA4	Jun 11, 2014	MedGen:C1838049,OMIM:600513;MedGen:CN517202	Epilepsy, nocturnal frontal lobe, type 1;not provided	germline	20	63350560	AGATCACGCTGTGCATCTCCGTGCTGCTGTCGCTCACCGTCTTCCTGCTGCTCATCACCGA
797045658	207952	NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter)	KMT2D	Jun 06, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49032860	CAGCTTCAACAACAGCAGCAGCAACAGCTTCAACAGCAGCAACAGCAGCTACAACAGCAAC
193922135	44476	NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter)	CD40LG	Dec 05, 2016	MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088;MedGen:CN169374	Immunodeficiency with hyper IgM type 1;not specified	germline	X	136648279	ATGATCGAAACATACAACCAAACTTCTCCCCGATCTGCGGCCACTGGACTGCCCATCAGCA
121434420	21793	NM_004572.3(PKP2):c.235C>T (p.Arg79Ter)	PKP2	Sep 15, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1836906,OMIM:609040;MedGen:CN230736;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;Cardiovascular phenotype;not provided	germline	12	32879021	AATATTTGCTTGATTGCAGGAAATCTTCACCGAACCAGCAGTGTTCCTGAGTATGTCTACA
1114167559	419629	NM_000038.5(APC):c.2701C>T (p.Gln901Ter)	APC	Jul 08, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112838295	ATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTG
119471023	19169	NM_022081.5(HPS4):c.649C>T (p.Arg217Ter)	HPS4	Oct 11, 2012	MedGen:C3484357,OMIM:614073	Hermansky-Pudlak syndrome 4	germline	22	26468571	CCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGGTATTGTAAA
587783371	167938	NM_003688.3(CASK):c.880C>T (p.Gln294Ter)	CASK	Feb 08, 2013	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline	X	41636613	TACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAAC
771809901	211704	NM_005262.2(GFER):c.373C>T (p.Gln125Ter)	GFER	Sep 26, 2012	MedGen:CN517202	not provided	germline	16	1984861	GCCTACTACCCCGACCTGCCCACCCCAGAACAGCAGCAAGACATGGCCCAGTTCATACATT
587777092	102943	NM_052844.3(WDR34):c.1061C>T (p.Thr354Met)	WDR34	Feb 10, 2014	MedGen:C3810200,OMIM:615633	Short-rib thoracic dysplasia 11 with or without polydactyly	germline	9	128634842	GCTTTGACCCTAGGCTGTTCATTCTGGGCACGGAAGGCGGCTTCCCGCTCAAGTGTTCCCT
62653623	153515	NM_003159.2(CDKL5):c.175C>T (p.Arg59Ter)	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:C1839333,OMIM:300672	Atypical Rett syndrome;Early infantile epileptic encephalopathy 2	de novo;germline;unknown	X	18575383	GAAAATGAAGAAGTCAAAGAAACGACTTTACGAGAGCTTAAAATGCTTCGGACTCTCAAGC
281865486	47577	NM_004614.4(TK2):c.133C>T (p.Gln45Ter)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560	Mitochondrial DNA depletion syndrome 2	not provided	16	66549001	ACTGATTTCCTTTCTTTTGTAGATAAAGAACAGGAAAAAGAGAAAAAATCAGTGGTAAGTC
62654864	168447	NM_133433.3(NIPBL):c.5482C>T (p.Arg1828Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37022298	GGACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGAT
-1	443922	NM_020732.3(ARID1B):c.2362C>T (p.Gln788Ter)	ARID1B	Jul 26, 2017	MedGen:CN517202	not provided	germline	6	157110552	CATCCCGCCTTGAGCCAGTCACCAATGCCACAGGAAAGAGGTTCGTCTCCAGTTCATGTCT
104894464	188074	NM_021728.3(OTX2):c.289C>T (p.Arg97Ter)	OTX2	Sep 01, 2013	MedGen:C1864690,OMIM:610125,Orphanet:ORPHA178364	Microphthalmia syndromic 5	germline	14	56802340	TCTTTCCCTTCCAAGGTATGGTTTAAGAATCGAAGAGCTAAGTGCCGCCAACAACAGCAAC
121918206	16098	NM_018122.4(DARS2):c.787C>T (p.Arg263Ter)	DARS2	Apr 01, 2007	MedGen:C1970180,OMIM:611105,Orphanet:ORPHA137898	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	germline	1	173838206	TTTCTCAATTGTAGATATTTTCAGGTTGCCCGATGTTATCGAGATGAAGGTTCAAGACCAG
201361100	195172	NM_004006.2(DMD):c.8656C>T (p.Gln2886Ter)	DMD	Apr 07, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31478995	CAGCCTTTGGAAGGACTAGAGAAACTCTACCAGGAGCCCAGAGGTAATTGAATGTGGAACT
587782087	452431	NM_000249.3(MLH1):c.979C>T (p.Gln327Ter)	MLH1	Jun 05, 2017	MedGen:C0009405,Orphanet:ORPHA443090	Hereditary nonpolyposis colon cancer	germline	3	37020404	CTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCT
150022116	44258	NM_000066.3(C8B):c.361C>T (p.Arg121Ter)	C8B	Sep 01, 2009	MedGen:C3151080,OMIM:613789	Complement component 8 deficiency type 2	germline	1	56956799	GTTACCAACAGACCATGCGGAAGTCAAGTGCGATGTGAAGGCTTTGTGTGTGCACAGACAG
794726838	187820	NM_001165963.1(SCN1A):c.1970C>T (p.Pro657Leu)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166043742	GCAATGGTGTGGTTTCCTTGGTTGGTGGACCTTCAGTTCCTACATCGCCTGTTGGACAGCT
1060503526	394265	NM_000297.3(PKD2):c.973C>T (p.Arg325Ter)	PKD2	Sep 20, 2016	MedGen:CN119611;MedGen:CN517202;MedGen:CN169374	Polycystic kidney disease, autosomal dominant;not provided;not specified	germline	4	88038380	CTGTTAGGGGTTCCACGAATACGGCAACTCCGAGTCAGAAATGGATCCTGCTCTATCCCCC
202193096	185948	NM_004608.3(TBX6):c.434C>T (p.Pro145Leu)	TBX6	Jan 22, 2015	MedGen:C1852521,OMIM:122600	Spondylocostal dysostosis 5	germline	16	30089130	CCCGCTACTTGTTTCTTCTGGATGTGATTCCGGTGGATGGGGCTCGCTACCGCTGGCAGGG
121913059	31597	NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys)	CFH	Jul 01, 2015	MedGen:C1853147,OMIM:610698;MedGen:C2749604,OMIM:235400;MedGen:C0398777,OMIM:609814,Orphanet:ORPHA200421,SNOMED CT:234622003	Age-related macular degeneration 4;Atypical hemolytic-uremic syndrome 1;Factor H deficiency	germline	1	196747245	GTGTGTAAACGGGGATATCGTCTTTCATCACGTTCTCACACATTGCGAACAACATGTTGGG
104894202	31995	NM_001885.2(CRYAB):c.451C>T (p.Gln151Ter)	CRYAB	Dec 01, 2003	MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058	Alpha-B crystallinopathy	germline	11	111908841	GGGGTCCTCACTGTGAATGGACCAAGGAAACAGGTCTCTGGCCCTGAGCGCACCATTCCCA
199472944	38732	NM_000238.3(KCNH2):c.1841C>T (p.Ala614Val)	KCNH2	Dec 30, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 2;not provided	germline	7	150951552	GCCCCTCCATCAAGGACAAGTATGTGACGGCGCTCTACTTCACCTTCAGCAGCCTCACCAG
397514519	48114	NM_000557.4(GDF5):c.1195C>T (p.Arg399Cys)	GDF5	Oct 01, 2010	MedGen:C3554446,OMIM:615072	Brachydactyly, type a1, c	germline	20	35434220	GGCAAGCGACCCAGCAAGAACCTTAAGGCTCGCTGCAGTCGGAAGGCACTGCATGTCAACT
1064796677	404950	NM_170707.3(LMNA):c.1078C>T (p.Gln360Ter)	LMNA	Jun 02, 2017	MedGen:CN517202	not provided	germline	1	156136042	GCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGG
587781213	165768	NM_130838.1(UBE3A):c.1972C>T (p.Gln658Ter)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25355984	AATGTGGAAGATGACATGATGATCACTTTCCAGATATCACAGACAGATCTTTTTGGTAACC
28931585	32815	NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)	SLC4A1	Jun 01, 2001	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44251206	CCCTTCGTCCTCATCCTCACTGTGCCGCTGCGGCGCGTCCTGCTGCCGCTCATCTTCAGGA
80358374	105815	NM_133433.3(NIPBL):c.3445C>T (p.Arg1149Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37000513	AGGAGTTCAGGTGGTGGTCGTTATCGAAACCGAAGTCCGTCAGATTCTGACATGGAAGATT
745870321	440139	NM_001080463.1(DYNC2H1):c.4267C>T (p.Arg1423Cys)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	paternal;unknown	11	103158916	ATTTTTTGTTTCTATTTTTATTAGGAAAAACGCTCAGCATTCCCAAGATTTTATTTTATTG
1057519505	362275	NM_003156.3(STIM1):c.1276C>T (p.Arg426Cys)	STIM1	Feb 02, 2017	MedGen:C2748557,OMIM:612783,Orphanet:ORPHA317430	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	germline	11	4083300	CTGAGCGAGGTGACAGCAGCATTGCGGGAGCGCCTGCACCGCTGGCAACAGATCGAGATCC
201079485	371260	NM_052968.4(APOA5):c.289C>T (p.Gln97Ter)	APOA5	Feb 01, 2017	MedGen:CN517202	not provided	germline	11	116790940	CAGGACCCGGTGGGCATGCGGCGGCAGCTGCAGGAGGAGTTGGAGGAGGTGAAGGCTCGCC
63751127	94736	NM_000179.2(MSH6):c.2194C>T (p.Arg732Ter)	MSH6	Sep 18, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	2	47800177	TCTGGTGCTATCTTCACCAAAGCCTATCAACGAATGGTGCTAGATGCAGTGACATTAAACA
886043496	271070	NM_004006.2(DMD):c.4174C>T (p.Gln1392Ter)	DMD	Mar 29, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	32411811	ATCCAGGAGTCCCTCACATTCATTGACAAGCAGTTGGCAGCTTATATTGCAGACAAGGTGG
1057516095	354012	NM_172107.3(KCNQ2):c.827C>T (p.Thr276Ile)	KCNQ2	Jun 23, 2017	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	germline	20	63439698	TAGAGCCTGCGGTCCCACAGATCACGCTGACCACCATTGGCTACGGGGACAAGTACCCCCA
387907057	39890	NM_015346.3(ZFYVE26):c.5422C>T (p.Gln1808Ter)	ZFYVE26	Oct 06, 2009	MedGen:C1849128,OMIM:270700,Orphanet:ORPHA100996	Spastic paraplegia 15	germline	14	67772109	GTGCCCCCAGCGACACCCCCTGCCAGGCACCAGTGGGTACCGGATGAGACTGAGAGTATCT
769603091	482093	NM_153603.3(COG7):c.1321C>T (p.Gln441Ter)	COG7	Jan 10, 2018	MedGen:CN517202	not provided	germline	16	23413536	AGGTATGTGTCTGATTTCACCAGCACTCTCCAGTCCATACGAAAGAAGTGCAAACTGGACC
397515559	76601	NM_005629.3(SLC6A8):c.1661C>T (p.Pro554Leu)	SLC6A8	Aug 18, 2011	MedGen:C1845862,OMIM:300352,Orphanet:ORPHA52503	Creatine deficiency, X-linked	not provided	X	153694783	CGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTT
121917851	24180	NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	TTPA	Jul 08, 2014	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96;MedGen:C4016662	Ataxia with vitamin E deficiency;Ataxia, Friedreich-like, with isolated vitamin E deficiency	germline;unknown	8	63066056	CCCAAAGTTTTTACAGCTTATGACGTATTTCGAGTAAGTCTAATCACATCCGAGCTTATTG
-1	482100	NM_004380.2(CREBBP):c.2071C>T (p.Gln691Ter)	CREBBP	Aug 01, 2017	MedGen:CN517202	not provided	germline	16	3778053	AACCAGCCAGCCTTACCAGCCCCGGGGGCTCAGCCCCCTGTGATTCCACAGGCACAACCTG
74315462	18103	NM_000487.5(ARSA):c.413C>T (p.Pro138Leu)	ARSA	Jan 01, 1994	MedGen:C4017094	Metachromatic leukodystrophy, severe	germline	22	50627218	TTGGGGTGGGGCCTGAGGGGGCCTTCCTGCCCCCCCATCAGGGCTTCCATCGATTTCTAGG
377449975	434315	NM_000527.4(LDLR):c.1835C>T (p.Ala612Val)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116988	AAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGAT
772791252	415700	NM_000411.6(HLCS):c.1693C>T (p.Arg565Ter)	HLCS	Apr 14, 2017	MedGen:CN517202	not provided	germline	21	36759829	GTGCAGATTTCCCTTTAGGATATCAACTTACGAGTGAAGTGGCCCAACGATATTTATTACA
62645917	105431	NM_000372.4(TYR):c.1204C>T (p.Arg402Ter)	TYR	Jul 14, 2016	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89284792	TTCCTCTGCAGTATTTTTGAGCAGTGGCTCCGAAGGCACCGTCCTCTTCAAGAAGTTTATC
104893950	18137	NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter)	EPM2A	Jun 07, 2017	MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:230425004;MedGen:CN517202	Lafora disease;not provided	germline	6	145627691	CATGTGTGCTGTGCTTTCCCCACCGCAGGCCGAGTACAGATGCTGCCCCAGGCGGTGTGCC
-1	433263	NM_000267.3(NF1):c.7054C>T (p.Gln2352Ter)	NF1	Mar 24, 2017	MedGen:CN169374	not specified	germline	17	31343063	ATCCGGAATCCTCTGGAGTGGCACTGCAAGCAAATGGATCATTTTGTTGGACTCAATTTCA
886041106	263871	NM_003482.3(KMT2D):c.11770C>T (p.Gln3924Ter)	KMT2D	Nov 18, 2016	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	de novo	12	49032935	CAGCAGCAGCAGCAGCAGCTACAACAGCAACAGCAACTTCAGCAGCAACAGCTTCAACAGC
80356758	15883	NM_012463.3(ATP6V0A2):c.2293C>T (p.Gln765Ter)	ATP6V0A2	Sep 23, 2010	MedGen:C0268355,OMIM:219200,Orphanet:ORPHA357058,SNOMED CT:73856006	Cutis laxa with osteodystrophy	germline	12	123754537	AGGCTCTGGGCGCTTAGCCTGGCTCACGCACGTAAGTTCCTGCTTAGACCTGCAGTTCCCA
104893835	23099	NM_004625.3(WNT7A):c.874C>T (p.Arg292Cys)	WNT7A	Aug 01, 2006	MedGen:C1848651,OMIM:276820	Ulna and fibula absence of with severe limb deficiency	germline	3	13819120	CCGGTGACCGGCAGTGTGGGCACCCAGGGCCGCGCCTGCAACAAGACGGCTCCCCAGGCCA
1064795256	405882	NM_000179.2(MSH6):c.1714C>T (p.Gln572Ter)	MSH6	Jul 06, 2016	MedGen:CN517202	not provided	germline	2	47799697	GATACTTCACTGGGAAAGTTTTTCATAGGTCAGTTTTCAGATGATCGCCATTGTTCGAGAT
776043976	264572	NM_000070.2(CAPN3):c.1342C>T (p.Arg448Cys)	CAPN3	Apr 27, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42399640	TGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGAT
876660980	232113	NM_000214.2(JAG1):c.703C>T (p.Arg235Ter)	JAG1	Apr 07, 2016	MedGen:C1956125,OMIM:118450;MedGen:CN517202	Alagille syndrome 1;not provided	germline	20	10656450	CGCCCTTCTCTGTTTTTTACAGCTATTTGCCGACAAGGCTGCAGTCCTAAGCATGGGTCTT
113994168	33876	NM_000018.3(ACADVL):c.779C>T (p.Thr260Met)	ACADVL	Dec 30, 2016	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202	Very long chain acyl-CoA dehydrogenase deficiency;not provided	germline;unknown	17	7222203	ACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCC
587783292	167760	NM_018136.4(ASPM):c.9454C>T (p.Arg3152Ter)	ASPM	Jun 26, 2014	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197091032	AAAATTCTATGTTTTAAACAGAGATGGTTTCGAGCAAGATTACAAGAAAAGAGATTTATTC
886040159	261713	NM_007294.3(BRCA1):c.3679C>T (p.Gln1227Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43091852	TCTAGTGAGGATGAAGAGCTTCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAAACAATA
199932303	170218	NM_012275.2(IL36RN):c.304C>T (p.Arg102Trp)	IL36RN	Nov 25, 2014	MedGen:C0343055,OMIM:614204,Orphanet:ORPHA247353	Pustular psoriasis, generalized	germline	2	113062513	GCCAAGGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAGCTTCG
63749999	94812	NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter)	MSH6	Jun 22, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	2	47801086	AGGGATGTATCATTGAAGGACTGCATGCGGCGACTGTTCTATAACTTTGATAAAAATTACA
121909205	22938	NM_000350.2(ABCA4):c.52C>T (p.Arg18Trp)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94120994	CAGCTTTTGCTCTGGAAGAACTGGACCCTGCGGAAAAGGCAAAAGGTAACAGTTACTGTCT
373428259	182551	NM_005732.3(RAD50):c.1237C>T (p.Gln413Ter)	RAD50	May 23, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132588872	AGACAAGAAGGGGAAGCAAAAACTGCCAACCAACTGATGGCAAGTATTTTGAAATACAGTA
143457874	259767	NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter)	COL7A1	Jul 19, 2017	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;MedGen:CN517202	Recessive dystrophic epidermolysis bullosa;not provided	germline	3	48565636	TGCCAGGGCCAGTTCATCGCATCTGGATCACGTGAGTAGTTTTCTACTCCCAGAACTTTCT
-1	449009	NM_001271208.1(NEB):c.2920C>T (p.Arg974Ter)	NEB	Nov 03, 2016	MedGen:C1850569,OMIM:256030	Nemaline myopathy 2	germline	2	151682685	TTTGGGTCCTTAGAAATGGAAAAGGCAAAGCGAGCTTCAGACATCCTCAATGAGGTAAAGC
794727861	195662	NM_004006.2(DMD):c.565C>T (p.Gln189Ter)	DMD	Mar 16, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	32809577	GACCTATTTGACTGGAATAGTGTGGTTTGCCAGCAGTCAGCCACACAACGACTGGAACATG
200309328	176122	NM_000138.4(FBN1):c.8080C>T (p.Arg2694Ter)	FBN1	Aug 03, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48412715	AGGCACTGTGTTTCTGGAATGGGCATGGGCCGAGGAAACCCAGAGCCACCTGTCAGTGGTG
879255404	246863	NM_015100.3(POGZ):c.3259C>T (p.Arg1087Ter)	POGZ	Aug 10, 2017	MedGen:CN517202	not provided	germline;unknown	1	151405776	CTGCGGCACCACCTGACTCCCCATGCCCGGCGAGCTGTGGCCCACACCCTACCTAAGGATG
148297332	271929	NM_014363.5(SACS):c.12028C>T (p.Gln4010Ter)	SACS	Apr 15, 2016	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	germline	13	23331848	GGAAGATTGCAGTTACTCTTGTCTTCTGAACAGTTCATTACAGGACTGATTAGAATTATGA
1057519289	361791	NM_022089.3(ATP13A2):c.3418C>T (p.Gln1140Ter)	ATP13A2	Feb 01, 2017	MedGen:C4310662,OMIM:617225	Spastic paraplegia 78, autosomal recessive	germline	1	16986346	CCTCCCTGCCCTTTGCAGAGCGTGCTAGACCAGTGCCTCCCCGCCTGCCTGCGCCGCCTCC
-1	425715	NM_183050.3(BCKDHB):c.995C>T (p.Pro332Leu)	BCKDHB	Jul 07, 2017	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001;MedGen:CN517202	Maple syrup urine disease;not provided	germline	6	80273178	CAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAG
113994055	20987	NM_003907.2(EIF2B5):c.583C>T (p.Arg195Cys)	EIF2B5	Jun 01, 2003	MedGen:C1847967,Orphanet:ORPHA99853	Ovarioleukodystrophy	germline	3	184137974	TTCAAGGAGTCATCCCCCAGCCACCCAACTCGTTGCCACGAAGACAATGTGGTAGTGGCTG
878853824	238823	NM_000251.2(MSH2):c.790C>T (p.Gln264Ter)	MSH2	Aug 18, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	2	47412558	AATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAA
398124119	100811	NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter)	COL6A3	Nov 01, 2017	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090;MedGen:CN517202	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided	germline	2	237395121	ACCATTGGAGAGGAACATTTCCAACTTGTTCGAGAGTTTCTATATGATGTTGTAAAATCCT
267607078	33431	NM_018013.3(SOBP):c.1981C>T (p.Arg661Ter)	SOBP	Nov 12, 2010	MedGen:C3150924,OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	germline	6	107634825	GACGGCGTCATCGACCTGACCGTGGGCCACCGAGCCCGGCTGCACAACGTGATCCACCGCG
267607554	57260	NM_170707.3(LMNA):c.961C>T (p.Arg321Ter)	LMNA	Sep 01, 2016	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	1	156135925	CTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGC
398122957	94563	NM_024582.4(FAT4):c.11455C>T (p.Arg3819Ter)	FAT4	Dec 03, 2013	MedGen:C3809875,OMIM:615546	Van Maldergem syndrome 2	germline	4	125452471	GGCCCATGTCAGAATGGAGGGAGCTGTCTACGAAGATTGGCTGTGAGCTCCGTATTAAAAA
746661607	445143	NM_000059.3(BRCA2):c.6298C>T (p.Gln2100Ter)	BRCA2	Mar 03, 2017	MedGen:CN517202	not provided	germline	13	32340653	CATAGTCTTCACTATTCACCTACGTCTAGACAAAATGTATCAAAAATACTTCCTCGTGTTG
104894810	25470	NM_000166.5(GJB1):c.424C>T (p.Arg142Trp)	GJB1	Jul 18, 2016	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71224131	TGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATG
267607185	27000	NM_014425.4(INVS):c.2719C>T (p.Arg907Ter)	INVS	Apr 01, 2009	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	Infantile nephronophthisis	germline	9	100292976	GAGCTCCGACTGCAGATAATTCAGAGAGAACGAAGGAGGAAGGAGCTGTTTCGCAAAAAGA
886039496	259946	NM_005097.3(LGI1):c.931C>T (p.Arg311Ter)	LGI1	Aug 27, 2015	MedGen:CN517202	not provided	germline	10	93797060	CAGCTGTTTGGTGGCTCTCACATCTATAAGCGAGACAGTTTTGCAAATAAATTCATAAAAA
104894753	25883	NM_000054.4(AVPR2):c.1009C>T (p.Arg337Ter)	AVPR2	May 16, 2016	MedGen:C1563705,OMIM:304800;MedGen:CN517202	Nephrogenic diabetes insipidus, X-linked;not provided	germline	X	153906621	TCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCA
121918161	16014	NM_032322.3(RNF135):c.727C>T (p.Gln243Ter)	RNF135	Aug 01, 2007	MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634	Macrocephaly, macrosomia, facial dysmorphism syndrome	germline	17	30997289	CCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTC
181969865	263785	NM_005993.4(TBCD):c.2314C>T (p.Arg772Cys)	TBCD	Nov 16, 2016	MedGen:C4310671,OMIM:617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	germline	17	82924992	GCTGAGCTTCGGAACCCCGAGGAGATGACTCGCTGTGGCTTCTCGTTGGCCTTGGGCGCCC
562767308	481834	NM_021224.5(ZNF462):c.3202C>T (p.Arg1068Ter)	ZNF462	Nov 17, 2017	MedGen:CN517202	not provided	germline	9	106927114	GCTTCCTACTTTAGGATCCAGAAAACTATGCGAATGGTGTCTGTGGACAGGGGCTCTGCCC
121912420	29994	NM_000185.3(SERPIND1):c.1385C>T (p.Pro462Leu)	SERPIND1	Jan 01, 2001	MedGen:C0398626,OMIM:612356,SNOMED CT:234468009	Heparin cofactor II deficiency	germline	22	20786951	CCACCACTGTGACCACGGTGGGGTTCATGCCGCTGTCCACCCAAGTCCGCTTCACTGTCGA
587783548	169899	NM_178151.2(DCX):c.386C>T (p.Ser129Leu)	DCX	Aug 07, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401309	TTGCCTTAGGGGAAAGCTATGTCTGTTCCTCAGACAACTTCTTTAAAAAGGTGGAGTACAC
-1	481862	NM_000494.3(COL17A1):c.3046C>T (p.Gln1016Ter)	COL17A1	Dec 05, 2017	MedGen:CN517202	not provided	germline	10	104038430	TCTATCAGCAGCTCTGGCCAGGAGATTCAGCAGTACATCTCTGAGTACATGCAGAGTGAGT
746797123	260446	NM_198428.2(BBS9):c.1759C>T (p.Arg587Ter)	BBS9	Jun 27, 2016	MedGen:C1859567,OMIM:615986	Bardet-Biedl syndrome 9	unknown	7	33367832	GTAATGGGTTTTCACTTCTTAGGAGGTGCTCGAATTACTGTTCTTGCTTCCAAAACTTCTC
869038795	259712	NM_001256850.1(TTN):c.76114C>T (p.Arg25372Ter)	TTN	Jan 24, 2017	MedGen:C1858763,OMIM:604145;MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609;MedGen:C1861065,OMIM:613765;MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464;MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922;MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377;MedGen:CN517202	Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Familial hypertrophic cardiomyopathy 9;Hereditary myopathy with early respiratory failure;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided	germline	2	178565095	TGCCAAATAAGCAACTACATTGTAGAGAAGCGAGATACAACCACCACCACTTGGCACATGG
1060501494	395141	NM_022455.4(NSD1):c.6487C>T (p.Gln2163Ter)	NSD1	Dec 17, 2016	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002	Beckwith-Wiedemann syndrome	germline	5	177293855	TTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCT
121917704	28877	NM_005247.2(FGF3):c.310C>T (p.Arg104Ter)	FGF3	Sep 20, 2012	MedGen:C1853144,OMIM:610706,Orphanet:ORPHA90024	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	germline	11	69816334	GGGCGGTACCTGGCCATGAACAAGAGGGGACGACTCTATGCTTCGGTGAGTCCAGGCTGTC
104895219	27375	NM_001065.3(TNFRSF1A):c.236C>T (p.Thr79Met)	TNFRSF1A	Nov 15, 2016	MedGen:C1275126,OMIM:142680,Orphanet:ORPHA32960,SNOMED CT:403833009;MedGen:CN517202	TNF receptor-associated periodic fever syndrome (TRAPS);not provided	germline	12	6333823	ACAATGACTGTCCAGGCCCGGGGCAGGATACGGACTGCAGGGAGTGTGAGAGCGGCTCCTT
760905589	205046	NM_001080508.2(TBX18):c.1570C>T (p.His524Tyr)	TBX18	Aug 06, 2015	Gene:7945,MedGen:C1840451,OMIM:143400	Multicystic renal dysplasia, bilateral	germline	6	84736939	CATCAGGGTTCCTATAATACTTTTAGATTACACAGCCCCTGTGCACTATATGGATATAACT
199469628	106407	NM_017415.2(KLHL3):c.1019C>T (p.Ala340Val)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137639862	TTGCTGAGCTTCCTTCCAGAAGATGCAGAGCAGGTGAGCAGCCTCCCAGTTCTGCAAGCTG
121908370	20185	NM_005709.3(USH1C):c.91C>T (p.Arg31Ter)	USH1C	Jan 01, 2001	MedGen:C1848604,OMIM:276904	Usher syndrome, type 1C	germline	11	17533268	GCAGAGAAGGACTATCTCTATGATGTGCTGCGAATGTACCACCAGTAAGTGTGCTGGGTCC
63750936	96152	NM_000251.2(MSH2):c.1477C>T (p.Gln493Ter)	MSH2	May 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47463121	GAAATAATGAATGACTTGGAAAAGAAGATGCAGTCAACATTAATAAGTGCAGCCAGAGATC
63751274	96629	NM_000251.2(MSH2):c.643C>T (p.Gln215Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47410370	GAGACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGG
796052119	200889	NM_031924.5(RSPH3):c.1105C>T (p.Arg369Ter)	RSPH3	Jul 02, 2015	MedGen:C4225311,OMIM:616481	Ciliary dyskinesia, primary, 32	germline	6	158982502	GAAGTTCAACGACTTGAAGAGCAAGAGAGGCGACACCGAGAAGAAAAAGTATATATAATTA
371886102	481745	NM_000046.4(ARSB):c.571C>T (p.Arg191Ter)	ARSB	Nov 01, 2017	MedGen:CN517202	not provided	germline	5	78964535	TGTACATTAATTGACGCTCTGAATGTCACACGATGTGCTCTTGATTTTCGAGATGGCGAAG
137852771	23771	NM_000182.4(HADHA):c.1678C>T (p.Arg560Ter)	HADHA	Sep 01, 1996	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Mitochondrial trifunctional protein deficiency	germline	2	26194581	TGTCTTGCGCCCATGATGTCTGAAGTCATCCGAATCCTCCAGGTTGGTATTGCTCTCCAGA
267606711	29842	NM_001039933.2(CD79B):c.241C>T (p.Gln81Ter)	CD79B	Sep 03, 2007	MedGen:C3150207,OMIM:612692	Agammaglobulinemia 6, autosomal recessive	germline	17	63930266	GCCTCCGGCAATGTGAGCTGGCTCTGGAAGCAGGAGATGGACGAGAATCCCCAGCAGCTGA
764791523	264839	NM_003119.3(SPG7):c.679C>T (p.Arg227Ter)	SPG7	May 06, 2016	MedGen:CN517202	not provided	germline	16	89526389	GCAAATATTGACAAGTTTGAAGAGAAGCTTCGAGCAGCTGAAGATGAGCTGAATATCGAGG
879255280	245206	NM_005631.4(SMO):c.1234C>T (p.Leu412Phe)	SMO	Jul 28, 2016	MedGen:C0795915,OMIM:601707	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	somatic	7	129206557	GGCTTCGTGCTGGCCCCAATCGGCCTGGTGCTCATCGTGGGAGGCTACTTCCTCATCCGAG
147321712	76712	NM_194248.2(OTOF):c.4483C>T (p.Arg1495Ter)	OTOF	Jan 13, 2015	MedGen:C1832828,OMIM:601071;Human Phenotype Ontology:HP:0000365,MedGen:C0018772	Deafness, autosomal recessive 9;Hearing impairment	unknown	2	26466731	CCGAGCAATGACCCCATCAATGTGCTGGTCCGAGTCTATGTGGTCCGGGTGAGACTCCCGT
875989942	434341	NM_000527.4(LDLR):c.2312-3C>T	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11128005	GACCTGGGCCTCACTCTTGCTTCTCTCCTGCAGCTCTGGGCGACGTTGCTGGCAGAGGAAA
121918696	27596	NM_001252634.1(THRB):c.958C>T (p.Arg320Cys)	THRB	Oct 20, 2010	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127685	ATGGAGATCATGTCCCTTCGCGCTGCTGTGCGCTATGACCCAGAAAGTGAGACTTTAACCT
796053359	202297	NM_003165.3(STXBP1):c.703C>T (p.Arg235Ter)	STXBP1	Sep 09, 2016	MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy 4;not provided	germline	9	127666205	AAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCC
797045013	205018	NM_014191.3(SCN8A):c.2300C>T (p.Thr767Ile)	SCN8A	Jul 01, 2014	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	de novo	12	51751523	TAGCCATCACCATCTGCATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTAT
730881815	473167	NM_000179.2(MSH6):c.1030C>T (p.Gln344Ter)	MSH6	Mar 06, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47799013	AAGAATACTTTGAGAGCTTTCTCTGCCCCTCAAAATTCTGAATCCCAAGCCCACGTTAGTG
-1	477758	NM_024675.3(PALB2):c.682C>T (p.Gln228Ter)	PALB2	Apr 01, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23635864	GAAGACAGTGTATTAATTCCACCAACTGCCCAACCAGAAAAAGGTGTTGATACATTCCTAA
-1	457473	NM_000083.2(CLCN1):c.2419C>T (p.Gln807Ter)	CLCN1	Oct 18, 2016	MedGen:C0751360,OMIM:255700,SNOMED CT:20305008	Congenital myotonia, autosomal recessive form	germline	7	143350387	TCCTCTGGCTGACAGATTGAGGCCTGGGAGCAGGAGCAGCTGAGCCAGCCTGTCTGTTTTG
727504145	177431	NM_006363.5(SEC23B):c.1489C>T (p.Arg497Cys)	SEC23B	Jan 23, 2014	MedGen:CN517202	not provided	germline	20	18542380	TATCAGCACTCCAGCACCCAGAGACGCATCCGCGTGACCACCATCGCCCGAAAGTAAGCAG
397516662	53360	NM_001399.4(EDA):c.457C>T (p.Arg153Cys)	EDA	Jun 08, 2016	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468;MedGen:CN517202	Hypohidrotic ectodermal dysplasia;not provided	germline	X	69957087	GAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCA
886041228	264800	NM_002734.4(PRKAR1A):c.46C>T (p.Arg16Ter)	PRKAR1A	May 04, 2017	MedGen:C2607929,OMIM:160980;MedGen:CN517202	Carney complex, type 1;not provided	germline	17	68515445	ACCGCCGCCAGTGAGGAGGCACGCAGCCTTCGAGAATGTGAGCTCTACGTCCAGAAGCATA
387906971	39623	NM_006445.3(PRPF8):c.6353C>T (p.Ser2118Phe)	PRPF8	Dec 02, 2011	MedGen:C1838702,OMIM:600059	Retinitis pigmentosa 13	germline	17	1653558	AGAATGTGCTTAAGAAGTTCATCTGCATATCTGACCTTCGGGCCCAAGTGAGTAAGTGGAC
863224983	213878	NM_004006.2(DMD):c.1663C>T (p.Gln555Ter)	DMD	May 31, 2013	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32573786	AGATGGACAGAAGACCGCTGGGTTCTTTTACAAGACATCCTTCTCAAATGGCAACGTCTTA
764091969	205165	NM_015631.5(TCTN3):c.877C>T (p.Gln293Ter)	TCTN3	Aug 22, 2014	MedGen:C0406727,OMIM:258860,SNOMED CT:239031000	Orofacial-digital syndrome IV	germline	10	95686506	TCCTAGGTTCCAAGAAGCATGACTGATCCACAGAATATGGAGGTATGATGCTGTTGTACCA
267606638	18193	NM_139057.3(ADAMTS17):c.760C>T (p.Gln254Ter)	ADAMTS17	Nov 01, 2009	MedGen:C2750787,OMIM:613195,Orphanet:ORPHA363992	Weill-Marchesani-like syndrome	germline	15	100281258	ATGGTGCAGTACCACGGGGCCGAGGCCGCCCAGAGGTTCATCCTGACCGTCATGAACATGG
-1	481566	NM_002016.1(FLG):c.3010C>T (p.Gln1004Ter)	FLG	Jul 31, 2017	MedGen:CN517202	not provided	germline	1	152311876	GGTCACGGGCACTCTGCAGACAGCTCCAGACAATCAGGAACTCCTCACGCAGAGACTTCCT
121907893	18552	NM_144585.3(SLC22A12):c.650C>T (p.Thr217Met)	SLC22A12	May 23, 2002	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	Familial renal hypouricemia	germline	11	64593548	CCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCG
398123371	98857	NM_000426.3(LAMA2):c.2962C>T (p.Gln988Ter)	LAMA2	Jun 04, 2013	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129297790	GACTGTGAAGAGAGTGGACAATGTTGGTGCCAACCTGGAGTCACAGGGAAGAAATGTGACC
200793488	424340	NM_000527.4(LDLR):c.2230C>T (p.Arg744Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11123263	ACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTG
398124348	101827	NM_019109.4(ALG1):c.1079C>T (p.Ala360Val)	ALG1	Feb 06, 2014	MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Inborn genetic diseases;not provided	germline	16	5082565	TGACCCACCCCTCTTGCCTAGCAGGGTCGGCGGACCTGGGTGTCTGTCTGCACACGTCCTC
63750200	96258	NM_000251.2(MSH2):c.1777C>T (p.Gln593Ter)	MSH2	Jun 19, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary nonpolyposis colon cancer;Lynch syndrome	germline	2	47475042	TATTTTTATACAGGCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAG
137852861	16889	NM_001193311.1(SUGCT):c.535C>T (p.Arg179Ter)	SUGCT	Nov 01, 2008	MedGen:C0342873,OMIM:231690,Orphanet:ORPHA35706,SNOMED CT:238070003	Glutaryl-CoA oxidase deficiency	germline	7	40237664	GGGTATGGTCAGACAGGTCCAATTTCTCAGCGAGCTGGTTATGATGCTGTTGCCTCGGCTG
121917819	22036	NM_001264.4(CDSN):c.643C>T (p.Gln215Ter)	CDSN	Jun 01, 2003	MedGen:C1840299,OMIM:146520,Orphanet:ORPHA90368	Hypotrichosis 2	germline	6	31116972	TCCAGCAGTGGCCAAAGCGTCAGCTCCAACCAGCGTCCCTGTAGTTCGGACATCCCCGACT
794729198	198602	NM_001127660.1(MFN2):c.746C>T (p.Ser249Phe)	MFN2	Sep 17, 2015	MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947	Charcot-Marie-Tooth disease, type 2A2A	germline;unknown	1	11999025	ACTTCTTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCTTCATCCTGAACAACCG
267607512	77340	NM_002055.4(GFAP):c.1126C>T (p.Arg376Trp)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911237	TACAGGAAGCTGCTAGAGGGCGAGGAGAACCGGTGAGCCCTCATCACAGCCCCTGGGGAAG
397514683	51205	NM_016938.4(EFEMP2):c.679C>T (p.Arg227Cys)	EFEMP2	Apr 26, 2013	MedGen:C3280798,OMIM:614437	Autosomal recessive cutis laxa type 1B	germline	11	65869905	TGCTTCAACTCCTATGGGACCTTCCTGTGTCGCTGCCACCAGGGCTATGAGCTGCATCGGG
542420576	187779	NM_001165963.1(SCN1A):c.3106C>T (p.Gln1036Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166036371	GTGAAAAGAAAAATATATGAATTTATTCAACAGTCCTTCATTAGGAAACAAAAGATTTTAG
879255309	246794	NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter)	BRCA2	Apr 04, 2017	MedGen:C0677776,Orphanet:ORPHA145;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast;not provided	germline	13	32338238	GAAAAAAATAATAAATGCCAACTGATATTACAAAATAATATTGAAATGACTACTGGCACTT
111033345	52517	NM_000307.4(POU3F4):c.499C>T (p.Arg167Ter)	POU3F4	Jun 10, 2008	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	X	83508823	GCCTCTGCACAGAGCCTGCACCCGGTGCTCCGAGAGCCCCCGGATCACGGCGAACTGGGCT
121918040	28557	NM_000297.3(PKD2):c.2224C>T (p.Arg742Ter)	PKD2	Dec 20, 2016	MedGen:C2751306,OMIM:613095;MedGen:CN517202;MedGen:CN169374	Polycystic kidney disease 2;not provided;not specified	germline	4	88065479	GGAGGAGGCAAGTTAAACTTTGACGAACTTCGACAAGATCTCAAAGGGTGAGAATCATGCT
80359818	31157	NM_006516.2(SLC2A1):c.376C>T (p.Arg126Cys)	SLC2A1	Jan 20, 2017	MedGen:C1832855,OMIM:601042,Orphanet:ORPHA53583;MedGen:C3553859,OMIM:614847;MedGen:CN030711,OMIM:606777;MedGen:C3149117;MedGen:C1842534,OMIM:612126,Orphanet:ORPHA98811;MedGen:CN517202	Dystonia 9;Epilepsy, idiopathic generalized, susceptibility to, 12;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 1, autosomal recessive;GLUT1 deficiency syndrome 2;not provided	germline	1	42930766	GGCAAGTCCTTTGAGATGCTGATCCTGGGCCGCTTCATCATCGGTGTGTACTGCGGCCTGA
59616921	18036	NM_000226.3(KRT9):c.487C>T (p.Arg163Trp)	KRT9	Jun 27, 2016	Human Phenotype Ontology:HP:0007559,MedGen:C1721006,OMIM:144200,Orphanet:ORPHA2199;MedGen:C1840427;MedGen:CN517202	Epidermolytic palmoplantar keratoderma;Palmoplantar keratoderma, epidermolytic, with knuckle pads;not provided	germline	17	41571506	GAGAAGAGCACCATGCAGGAACTCAATTCTCGGCTGGCCTCTTACTTGGATAAGGTGCAGG
200777850	480556	NM_007327.3(GRIN1):c.649C>T (p.Arg217Trp)	GRIN1	Feb 22, 2018	na	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE	germline	9	137149087	CTGCTGATGGAGGCGAAAGAGCTGGAGGCCCGGGTCATCATCCTTTCTGCCAGGTGAGGCT
141576417	419594	NM_000038.5(APC):c.607C>T (p.Gln203Ter)	APC	May 23, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112780865	GCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAAC
17848368	22618	NM_003356.3(UCP3):c.208C>T (p.Arg70Trp)	UCP3	Sep 02, 2008	MedGen:C4016768	Obesity, severe, and type II diabetes	germline	11	74006298	GGCGTGCTGGGCACCATCCTGACCATGGTGCGGACTGAGGGTCCCTGCAGCCCCTACAATG
587777214	108177	NM_001040436.2(YARS2):c.1078C>T (p.Arg360Ter)	YARS2	Dec 17, 2013	MedGen:C3150802,OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	germline	12	32750744	GCAGCAGAAGTAACAAAGCTTGTTCATGGACGAGAAGGATTGGATTCTGCTAAAAGGTAGT
439898	76478	NM_000157.3(GBA):c.475C>T (p.Arg159Trp)	GBA	Jan 15, 2014	MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher disease;Gaucher's disease, type 1	germline	1	155238630	TTTTCTGTAGGAATCGGATATAACATCATCCGGGTACCCATGGCCAGCTGTGACTTCTCCA
863225064	213972	NM_020964.2(EPG5):c.7447C>T (p.Arg2483Ter)	EPG5	Nov 16, 2017	MedGen:C1855772,OMIM:242840,Orphanet:ORPHA1493	Absent corpus callosum cataract immunodeficiency	germline;inherited	18	45855683	CTTCTGACCTCTCCCTAATGCCTAAGGTTCCGAGTGGTTGCCCGAAGCATGGCTGCCTTCC
119103262	433691	NM_014874.3(MFN2):c.493C>T (p.His165Tyr)	MFN2	Jan 26, 2017	MedGen:CN169374	not specified	germline	1	11997315	CTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATG
797044942	205301	NM_001042492.2(NF1):c.4729C>T (p.Gln1577Ter)	NF1	-	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	17	31265233	TAATTACTCTGTTATTTTTCTTTTAGGCATCAGGTACATGAAAAAGAAGAATTCAAGGCTT
199422304	38856	NM_198253.2(TERT):c.2701C>T (p.Arg901Trp)	TERT	May 10, 2012	MedGen:C1857144,OMIM:224230;MedGen:C3151444	Dyskeratosis congenita autosomal recessive 1;Dyskeratosis congenita, autosomal recessive, 4	germline	5	1264546	GTCCCTGAGTATGGCTGCGTGGTGAACTTGCGGAAGACAGTGGTGAACTTCCCTGTAGAAG
121918015	28719	NM_000478.5(ALPL):c.323C>T (p.Pro108Leu)	ALPL	Aug 01, 2003	MedGen:C1840322,Orphanet:ORPHA247685	Odontohypophosphatasia	germline	1	21563135	TGCAGACGTACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCT
763364977	486887	NM_001271208.1(NEB):c.24559C>T (p.Arg8187Ter)	NEB	Jul 28, 2016	MedGen:C0206157,Orphanet:ORPHA607,SNOMED CT:75072002	Nemaline myopathy	germline	2	151496308	ACTCCTTTAGCTGTCACTCCCGAGATGGAGCGAGTCAAACACAATCAAGAAAATATTAGCT
121918731	27538	NM_000359.2(TGM1):c.919C>T (p.Arg307Trp)	TGM1	Aug 01, 2001	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24259769	GTGCTGGATGCCTGCTTATACATCCTGGACCGGCGGGGGATGCCATATGGAGGCCGTGGAG
747319628	314093	NM_000553.4(WRN):c.2959C>T (p.Arg987Ter)	WRN	Feb 03, 2017	MedGen:C0043119,OMIM:277700,Orphanet:ORPHA902,SNOMED CT:51626007	Werner syndrome	germline	8	31132498	TTTGGAATTGGGCTTCCAATTTTATTTCTCCGAGGATCTGTAAGTATATATCTGTGAATTC
387906933	39518	NM_033517.1(SHANK3):c.1606C>T (p.Arg536Trp)	SHANK3	Apr 27, 2010	MedGen:C3151380,OMIM:613950	Schizophrenia 15	germline	22	50698797	GAGGAAGTGCAGATGAGGCAGCATGACACACGGCCTGGTGAGTGACCCCACGGCTCCCCGG
767664526	222930	NM_005879.2(TRAIP):c.553C>T (p.Arg185Ter)	TRAIP	Jan 29, 2016	MedGen:C4225212,OMIM:616777	Seckel syndrome 9	germline	3	49841890	AGCCAGCGCCCTGAGGTGGAGGAGATGATCCGAGACATGGGTGTGGGACAGTCAGCGGTGG
121434292	18583	NM_130849.3(SLC39A4):c.283C>T (p.Arg95Cys)	SLC39A4	Jun 01, 2003	MedGen:C0221036,OMIM:201100,Orphanet:ORPHA37,SNOMED CT:37702000	Hereditary acrodermatitis enteropathica	germline	8	144416001	GGCCCGGTCCTGGAGGCCAGGTACGTCGCCCGCCTCAGTGCCGCCGCCGTCCTGTACCTCA
121918113	32841	NM_004320.4(ATP2A1):c.592C>T (p.Arg198Ter)	ATP2A1	Oct 01, 1996	MedGen:C1832918,OMIM:601003,Orphanet:ORPHA53347	Brody myopathy	germline	16	28887236	ATCAAACACACGGAGCCCGTTCCTGACCCCCGAGCTGTCAACCAGGACAAGAAGAACATGC
869025366	224249	NM_001204.6(BMPR2):c.439C>T (p.Arg147Ter)	BMPR2	Aug 31, 2015	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202513739	TTTCTTTTAGGTCCACCTCATTCATTTAACCGAGATGAGACAATAATCATTGCTTTGGCAT
398124181	101060	NM_004737.5(LARGE1):c.1102C>T (p.Gln368Ter)	LARGE1	Nov 15, 2012	MedGen:CN517202	not provided	germline	22	33381948	GTGCAGCTGTCAGACCACACCCGCTCCGAGCAGTGCTACAGAGACGTGTCTGATCTAAAGG
121918389	32933	NM_000384.2(APOB):c.4429C>T (p.Gln1477Ter)	APOB	Apr 14, 1992	MedGen:C1862596,Orphanet:ORPHA426,SNOMED CT:60193003	Familial hypobetalipoproteinemia	germline	2	21012439	GCTTCAGTTCATTTGGACTCCAAAAAGAAACAGCATTTGTTTGTCAAAGAAGTCAAGATTG
180177111	132156	NM_024675.3(PALB2):c.2323C>T (p.Gln775Ter)	PALB2	Aug 03, 2017	MedGen:CN068448;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast cancer, susceptibility to;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	16	23629831	GACTCAGTCTGTCTTGCCAGTGATACTAAACAATTCGACAGTTCAGGCAGCCCAGCAAAAC
770810694	441560	NM_000486.5(AQP2):c.277C>T (p.Gln93Ter)	AQP2	Jul 25, 2017	MedGen:CN517202	not provided	germline	12	49951107	GTTCTCCGAGCCGCCTTCTACGTGGCTGCCCAGCTGCTGGGGGCTGTGGCCGGAGCCGCTC
137854448	31782	NM_001972.3(ELANE):c.416C>T (p.Pro139Leu)	ELANE	Nov 30, 2015	MedGen:C1859966,OMIM:202700;MedGen:CN517202	Severe congenital neutropenia autosomal dominant;not provided	germline	19	855613	TCAACGCCAACGTGCAGGTGGCCCAGCTGCCGGCTCAGGGACGCCGCCTGGGCAACGGGGT
797045195	206616	NM_033409.3(SLC52A3):c.955C>T (p.Pro319Ser)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	763616	TTCGTCAACGCGCTCACCAACGGCATGCTGCCCTCTGTGCAGACCTACTCCTGCCTGTCCT
991738444	409070	NM_001170629.1(CHD8):c.4414C>T (p.Arg1472Ter)	CHD8	Jul 24, 2015	MedGen:CN517202	not provided	germline	14	21400569	CGAGATATTTTATCTCATGGACGCTTCAAGCGACGTATGACTGAACGAGATGTGGAGACCA
776851287	392666	NM_000465.3(BARD1):c.526C>T (p.Gln176Ter)	BARD1	May 26, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	2	214781348	CAGCCTGCAATAAAAAAAGATGCAAGTGCTCAGCAAGACTCATATGAATTTGTTTCCCCAA
587783182	167587	NM_139058.2(ARX):c.1111C>T (p.Arg371Ter)	ARX	Feb 25, 2013	MedGen:CN517202	not provided	germline	X	25010268	CTGGCCATGAGGCTGGACTTGACCGAGGCCCGAGTCCAGGTGAGCTGCACAACAGAGGGAA
587777574	150458	NM_001301339.1(CHCHD10):c.176C>T (p.Ser59Leu)	CHCHD10	Apr 14, 2015	MedGen:C4014648,OMIM:615911;MedGen:C4015513,OMIM:616209,Orphanet:ORPHA457050	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Myopathy, isolated mitochondrial, autosomal dominant	germline	22	23767459	CGACCACGGCCGCAGGGGTAGCCGTGGGCTCGGCTGTGGGACACGTCATGGGCAGCGCCCT
587783590	169851	NM_178151.2(DCX):c.814C>T (p.Arg272Ter)	DCX	May 23, 2016	Human Phenotype Ontology:HP:0002282,MedGen:C0008519;MedGen:CN517202	Heterotopia;not provided	germline	X	111331036	AGCTGTCTGTGTCCTTTTGCCCCAGAATGCCGAGTCATGAAGGGAAACCCATCAGCCACAG
767409395	415589	NM_000152.4(GAA):c.118C>T (p.Arg40Ter)	GAA	Apr 11, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002;MedGen:CN517202	Glycogen storage disease, type II;not provided	germline	17	80104704	ATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGG
72656314	32376	NM_000088.3(COL1A1):c.3421C>T (p.Arg1141Ter)	COL1A1	Jun 30, 2015	MeSH:D010013,MedGen:C0029434,Orphanet:ORPHA666,SNOMED CT:78314001;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta;Osteogenesis imperfecta type I	germline	17	50187486	CCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCC
63751426	96578	NM_000251.2(MSH2):c.478C>T (p.Gln160Ter)	MSH2	Jun 30, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary nonpolyposis colon cancer;Lynch syndrome	germline	2	47410205	GTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATAC
397515631	86128	NM_002608.3(PDGFB):c.433C>T (p.Gln145Ter)	PDGFB	Sep 01, 2011	MedGen:C3809645,OMIM:615483	Idiopathic basal ganglia calcification 5	germline	22	39231645	AACAACCGCAACGTGCAGTGCCGCCCCACCCAGGTGCAGCTGCGACCTGTCCAGGTGCGTA
121918349	22669	NM_003394.3(WNT10B):c.994C>T (p.Arg332Trp)	WNT10B	Sep 01, 2008	MedGen:C2749665,OMIM:225300	Split-hand/foot malformation 6	germline	12	48966271	CCCACTATGGGCTCCCCAGGGACAAGGGGCCGGGCCTGCAACAAGACCAGCCGCCTGTTGG
367682612	404876	NM_013296.4(GPSM2):c.1093C>T (p.Arg365Ter)	GPSM2	Jul 22, 2015	MedGen:CN517202	not provided	germline	1	108904155	GTTGGGGATAAAAGTGGTGAACTAACAGCACGACTTAATCTCTCAGACCTTCAAATGGTTC
-1	447473	NM_003000.2(SDHB):c.502C>T (p.Gln168Ter)	SDHB	Jul 03, 2017	MedGen:C1861848,OMIM:115310	Paragangliomas 4	germline	1	17027787	AAGAAGAAGGATGAATCTCAGGAAGGCAAGCAGCAGTATCTGCAGTCCATAGAAGAGCGTG
713993044	171847	NM_004527.3(MEOX1):c.250C>T (p.Gln84Ter)	MEOX1	Sep 28, 2013	MedGen:C1859209,OMIM:214300	Klippel-Feil syndrome 2, autosomal recessive	germline	17	43661285	CTGCCCCAGGAGGAGCACATCTTCACTGAGCAGCACCCCGCTTTCCCACAGTCCCCCAACT
761651320	415107	NM_000048.3(ASL):c.637C>T (p.Arg213Ter)	ASL	Aug 03, 2017	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004;MedGen:CN517202	Argininosuccinate lyase deficiency;not provided	germline	7	66087368	GCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCT
397514643	48633	NM_004625.3(WNT7A):c.664C>T (p.Arg222Trp)	WNT7A	Nov 01, 2010	MedGen:C1848651,OMIM:276820	Ulna and fibula absence of with severe limb deficiency	germline	3	13819330	AAGACGTGCTGGACCACACTGCCACAGTTTCGGGAGCTGGGCTACGTGCTCAAGGACAAGT
63750042	96420	NM_000251.2(MSH2):c.226C>T (p.Gln76Ter)	MSH2	May 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline;unknown	2	47408415	TTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTG
119462978	17925	NM_032531.3(KIRREL3):c.118C>T (p.Arg40Trp)	KIRREL3	Dec 01, 2008	MedGen:C2675487,OMIM:612581	Mental retardation, autosomal dominant 4	germline	11	126562850	GTGCTGGGCTACATGGCCAAGGACAAGTTTCGGAGAATGAATGAAGGTCAGTGAGAACCTC
72653173	44584	NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter)	COL1A1	May 25, 2017	MeSH:D010013,MedGen:C0029434,Orphanet:ORPHA666,SNOMED CT:78314001;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:CN517202	Osteogenesis imperfecta;Osteogenesis imperfecta type I;not provided	germline	17	50188765	GGGGCTCCTGGTGCCGAAGGTTCCCCTGGACGAGACGGTTCTCCTGGCGCCAAGGTAAGAT
121918446	28594	NM_000212.2(ITGB3):c.718C>T (p.Arg240Trp)	ITGB3	Jun 01, 1992	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	47286363	AATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTG
199422216	16768	NM_001099287.1(NIPAL4):c.433C>T (p.Arg145Ter)	NIPAL4	Jan 05, 2017	MedGen:C2677065,OMIM:612281;MedGen:CN517202	Autosomal recessive congenital ichthyosis 6;not provided	germline	5	157463303	AGCGTCATCCTCAAGAAGAAAGGCCTCTTGCGACTCGTGGCCACGGGAGCCACTCGAGCTG
397516153	52080	NM_000257.3(MYH7):c.2513C>T (p.Pro838Leu)	MYH7	Dec 15, 2016	MedGen:C3495498,OMIM:192600;MedGen:C0340429,Orphanet:ORPHA217635,SNOMED CT:233878008	Familial hypertrophic cardiomyopathy 1;Familial restrictive cardiomyopathy	germline	14	23424935	CCTGGATGAAGCTCTACTTCAAGATCAAGCCGCTGCTGAAGAGTGCAGAAAGAGAGAAGGA
80358305	21331	NM_002335.3(LRP5):c.433C>T (p.Leu145Phe)	LRP5	Mar 14, 2013	MedGen:C4016838;MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Exudative vitreoretinopathy 4, autosomal dominant;Osteoporosis with pseudoglioma	germline	11	68348188	GCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGG
200286768	48429	NM_139242.3(MTFMT):c.994C>T (p.Arg332Ter)	MTFMT	Jun 01, 2015	MedGen:C3554182,OMIM:614947,Orphanet:ORPHA319524;MedGen:C1838951;MedGen:CN517202	Combined oxidative phosphorylation deficiency 15;Leigh syndrome due to mitochondrial complex I deficiency;not provided	germline	15	65003238	TTTGCCCTTTAGGATGGTTGGATTGGTGTTCGATCAGTGATGCTCAAGAAATCACTAACAG
587783699	168903	NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter)	KMT2D	Sep 19, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49024687	TGCCCACAGCTGCCCGGGGTGGAGAGCTGTCAAAACTATTTATTCCGCTATGGGCGCCACC
267606814	18255	NM_001079802.1(FKTN):c.919C>T (p.Arg307Ter)	FKTN	Jun 13, 2017	MedGen:CN355827;MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED CT:111502003;MedGen:CN517202	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4;Fukuyama congenital muscular dystrophy;not provided	germline;unknown	9	105617967	AAAAATTTAATCTTCTTTTTAGGATGGTATCGACAATGCAACATTATTCCTTATAGCAAAG
397508926	69090	NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43093562	AGTGAAGAGATAAAGAAAAAAAAGTACAACCAAATGCCAGTCAGGCACAGCAGAAACCTAC
104894161	31791	NM_000399.4(EGR2):c.1075C>T (p.Arg359Trp)	EGR2	May 09, 2017	MedGen:C1843247,OMIM:607678,Orphanet:ORPHA101084;MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009;MedGen:C0011195,OMIM:145900,Orphanet:ORPHA64748,SNOMED CT:111499002;MedGen:C4016028;MedGen:CN517202	Charcot-Marie-Tooth disease, demyelinating, type 1d;Charcot-Marie-Tooth disease, type I;Dejerine-Sottas disease;Dejerine-sottas neuropathy, autosomal dominant;not provided	germline	10	62813563	CGGCGGTTCTCCCGCTCTGACGAGCTGACACGGCACATCCGAATCCACACTGGGCATAAGC
878852982	236889	NM_018946.3(NANS):c.709C>T (p.Arg237Cys)	NANS	Jun 20, 2017	MedGen:C1864872,OMIM:610442,Orphanet:ORPHA168454	Spondyloepimetaphyseal dysplasia Genevieve type	germline	9	98080921	GCAGTGGCTCTGGGGGCCAAGGTGTTGGAACGTCACATAACTTTGGACAAGACCTGGAAGG
1057516106	353997	NM_172107.3(KCNQ2):c.1051C>T (p.Leu351Phe)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63433876	CAGTCGGCCTGGAGATTCTACGCCACCAACCTCTCGCGCACAGACCTGCACTCCACGTGGC
746488412	48331	NM_001271885.1(AAGAB):c.154C>T (p.Arg52Ter)	AAGAB	Nov 01, 2012	Gene:619540,MedGen:C1835662,OMIM:148600	Keratosis palmoplantaris papulosa	germline	15	67231868	GATGACTTCCCAGAATCTACAGGAGTAAAGCGAATTGTCCAAGCCCTGAATGCCAATGTGT
786202918	183044	NM_000314.6(PTEN):c.733C>T (p.Gln245Ter)	PTEN	Mar 01, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	germline;unknown	10	87957951	GAAGACAAGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAG
-1	446003	NM_176787.4(PIGN):c.661C>T (p.Arg221Ter)	PIGN	Jul 27, 2017	MedGen:CN517202	not provided	germline	18	62148227	TTAGGAATAGATACAAACGGACATGCTCATCGACCATCCTCGAGGTAATTTAATATTGTGT
780302064	427654	NM_170707.3(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Feb 08, 2013	MeSH:D009136,MedGen:C0026850,Orphanet:ORPHA98473	Muscular dystrophy	germline	1	156137212	TGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGC
144547521	36745	NM_003060.3(SLC22A5):c.1193C>T (p.Pro398Leu)	SLC22A5	Dec 30, 2015	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline;unknown	5	132390830	TGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGCCACTGCCCTCTT
886039269	259374	NM_001242896.1(DEPDC5):c.3994C>T (p.Arg1332Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31879713	TCCTATGCAAGTAGGCACAGCTCCTTTAGCCGAAGTTTTGGAGGACGGAGCCAGGCGGCAG
869025316	223700	NM_032504.1(UNC80):c.5098C>T (p.Pro1700Ser)	UNC80	Mar 29, 2016	MedGen:C4225203,OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	germline	2	209918616	TCCGTCCCAATGTTTGACCCACCGTGGGTTCCTCAGTGCAGCGGGAGTGTCCAGGACCCCA
367757240	485716	NM_001252634.1(THRB):c.1312C>T (p.Arg438Cys)	THRB	Jan 28, 2014	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24122958	CTGCGGATGATAGGAGCCTGCCATGCCAGCCGCTTCCTGCACATGAAGGTGGAATGCCCCA
886041186	264158	NM_000094.3(COL7A1):c.553C>T (p.Arg185Ter)	COL7A1	Nov 17, 2016	MedGen:CN517202	not provided	germline	3	48593231	ATCAAGAATGCTGACCCTGAGGAGCTGAAGCGAGTTGCCTCACAGCCCACCAGTGACTTCT
151344513	46948	NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile)	AFG3L2	May 17, 2011	MedGen:C1853249,OMIM:610246,Orphanet:ORPHA101109	Spinocerebellar ataxia 28	germline	18	12340220	CTGGTGCTCAAGATGACTTGAGAAAAGTAACTCAGAGTGCATATGCCCAAGTGAGTATATG
756898971	224974	NM_015073.2(SIPA1L3):c.4489C>T (p.Arg1497Ter)	SIPA1L3	Jan 27, 2017	MedGen:C4225182,OMIM:616851	Cataract 45	germline	19	38192203	TTTGGGCAACCGAGGTTGAGGGCATCCCTCCGAGACCTCCGGTCACCACGGAAGAACTACA
116840773	23321	NM_033337.2(CAV3):c.137C>T (p.Ala46Val)	CAV3	Jan 25, 2016	MedGen:C3280443,OMIM:614321;MedGen:C1832560;MedGen:CN517202	Distal myopathy, Tateyama type;Rippling muscle disease 2;not provided	germline	3	8745548	CCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGG
63750951	96269	NM_000251.2(MSH2):c.181C>T (p.Gln61Ter)	MSH2	Feb 17, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	2	47403372	CTGCTGGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCCGGCAG
387907316	45898	NM_006282.3(STK4):c.349C>T (p.Arg117Ter)	STK4	Apr 12, 2012	MedGen:C3553943,OMIM:614868,Orphanet:ORPHA314689	T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations	germline	20	44981932	GCTGGTTCTGTATCTGATATCATTCGATTACGAAATAAAACGGTAGGTTTACCTTCTAGAA
28931573	32948	NM_000039.2(APOA1):c.589C>T (p.Arg197Cys)	APOA1	Nov 05, 2003	na	APOLIPOPROTEIN A-I (MILANO)	germline	11	116836023	CTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGG
121434230	18461	NM_006147.3(IRF6):c.1186C>T (p.Pro396Ser)	IRF6	Jan 01, 2003	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209788638	ACCTGTGTTCTGTGTCCTGAACAGGTCATTCCAGTAGTGGCTCGGATGATCTACGAGATGT
574660186	178478	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	TTN	Jun 06, 2017	MedGen:C1858763,OMIM:604145;MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609;MedGen:C1861065,OMIM:613765;MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464;MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922;MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Familial hypertrophic cardiomyopathy 9;Hereditary myopathy with early respiratory failure;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Primary dilated cardiomyopathy;not provided	germline	2	178579702	GATTTCCTGACTGAAGAAAATAAGTGGCAACGAGTTATGAAATCCTTAAGCCTACAGTACT
879253815	214551	NM_000532.4(PCCB):c.493C>T (p.Arg165Trp)	PCCB	-	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136262015	GTGATTGGGCTGAATGACTCTGGGGGAGCACGGATCCAAGAAGGAGTGGAGTCTTTGGCTG
113994128	16145	NM_000642.2(AGL):c.1222C>T (p.Arg408Ter)	AGL	Sep 06, 2012	MedGen:C1968739;MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease IIIa;Glycogen storage disease type III	germline	1	99875394	AATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGAC
281865548	39932	NM_018081.2(WRAP53):c.1192C>T (p.Arg398Trp)	WRAP53	May 10, 2012	MedGen:C3151442,OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	germline	17	7702770	CAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGG
104894715	19828	NM_181882.2(PRX):c.1102C>T (p.Arg368Ter)	PRX	Feb 01, 2001	MedGen:CN069172	Autosomal recessive Dejerine-Sottas syndrome	germline	19	40397250	CCCCGCCTTAGTTTTCCCCGATTTGGGGCTCGAGCAAAGGAAGTTGCTGAGGCCAAGGTAG
104894814	25474	NM_000166.5(GJB1):c.658C>T (p.Arg220Ter)	GJB1	Mar 22, 2017	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71224365	GTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCC
1085307463	415696	NM_172107.3(KCNQ2):c.1093C>T (p.Arg365Ter)	KCNQ2	May 02, 2017	MedGen:CN517202	not provided	germline	20	63433834	GACCTGCACTCCACGTGGCAGTACTACGAGCGAACGGTCACCGTGCCCATGTACAGGTACC
587783227	167644	NM_018136.4(ASPM):c.2791C>T (p.Arg931Ter)	ASPM	Jan 12, 2018	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197128635	GCTAGTAAAGAAATCCTTTTGGCTTTTTCACGAGATTTCCTAAGTGGTGAAGGTGACCTTT
121912604	17388	NM_016341.3(PLCE1):c.5560C>T (p.Gln1854Ter)	PLCE1	Dec 01, 2006	MedGen:C1853124,OMIM:610725	Nephrotic syndrome, type 3	germline	10	94304583	GTTCTGTGGGACAAGAACTGCCCCATGTATCAGAAGTTTTCTCCACTAGAAAGAGATCTGG
137853293	28112	NM_000321.2(RB1):c.2359C>T (p.Arg787Ter)	RB1	Mar 07, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline;somatic	13	48465238	CCTACCTTGTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCACCCT
760714959	205533	NM_000494.3(COL17A1):c.3156C>T (p.Gly1052=)	COL17A1	Apr 01, 2015	MedGen:C1852551,OMIM:122400,Orphanet:ORPHA293381	Epithelial recurrent erosion dystrophy	germline	10	104037688	TCCCCCAGGACCTGTCACCACCATCACAGGCGAGACTTTCGACTACTCAGAGCTGGCAAGC
886042935	268970	NM_000321.2(RB1):c.2548C>T (p.Gln850Ter)	RB1	Nov 25, 2015	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	germline	13	48476728	TAGACTTCTGAGAAGTTCCAGAAAATAAATCAGATGGTATGTAACAGCGACCGTGTGCTCA
794728060	196821	NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter)	COL3A1	Aug 10, 2016	MedGen:CN517202	not provided	germline	2	189010723	CATCTGGCATTCCTTCGACTTCTCTCCAGCCGAGCTTCCCAGAACATCACATATCACTGCA
121434219	18068	NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter)	ATM	Oct 10, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C4017102;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Ataxia-telangiectasia without immunodeficiency;Hereditary cancer-predisposing syndrome;not provided	germline	11	108365476	CAGCAGGCCATAGACCCCAAAAATCTCAGCCGACTTTTCCCAGGATGGAAAGCTTGGGTGT
-1	444924	NM_015335.4(MED13L):c.6418C>T (p.Gln2140Ter)	MED13L	Oct 16, 2017	MedGen:CN517202	not provided	germline	12	115963489	GCTTCGCTGCATCACCACATTTCAGTAGCACAGACAGACGAACTTCTGCCTGCCAGGAATT
1060502788	401810	NM_024675.3(PALB2):c.1048C>T (p.Gln350Ter)	PALB2	May 22, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:CN517202	Familial cancer of breast;not provided	germline	16	23635498	AATGAAAACCAAAACTTAAAAGAACAAAATCAAACAGAGAAATCTTTAAAATCTCCCAGTG
387907120	40096	NM_174917.4(ACSF3):c.1073C>T (p.Thr358Ile)	ACSF3	Aug 14, 2011	MedGen:C3280314,OMIM:614265,Orphanet:ORPHA289504	Combined malonic and methylmalonic aciduria	germline	16	89114434	GCCACACCCTGCTGGAGCGGTATGGCATGACCGAGATCGGCATGGCTCTGTCCGGGCCCCT
770505620	443610	NM_000128.3(F11):c.841C>T (p.Gln281Ter)	F11	Oct 27, 2017	MedGen:CN517202	not provided	germline	4	186280097	AAGAGCAAAGCTCTTTCTGGTTTCAGTCTACAAAGCTGCAGGCACAGCATCCCAGGTAAAC
137886900	47595	NM_004614.4(TK2):c.547C>T (p.Arg183Trp)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560;MedGen:C4310734,OMIM:617069	Mitochondrial DNA depletion syndrome 2;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	germline	16	66517207	CCACGTATTCTTTTAACCTCAGTTTACCTTCGGACCAATCCTGAGACTTGTTACCAGAGGT
137852544	24971	NM_002764.3(PRPS1):c.569C>T (p.Ala190Val)	PRPS1	Feb 21, 2017	MedGen:C1970827,OMIM:300661,Orphanet:ORPHA3222	Phosphoribosylpyrophosphate synthetase superactivity	germline	X	107645215	CCATTGCAGACAGGCTGAATGTGGACTTTGCCTTGATTCACAAAGAACGGAAGAAGGCCAA
150115958	188766	NM_145200.3(CABP4):c.646C>T (p.Arg216Ter)	CABP4	Oct 01, 2013	MedGen:C1864877,OMIM:610427	Congenital stationary night blindness, type 2B	germline	11	67457677	CTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAGGTGCGGAGTGTGGTGAGGTGGGCAG
267607157	27694	NM_001256850.1(TTN):c.2228C>T (p.Ala743Val)	TTN	Feb 22, 2002	MedGen:C1858763,OMIM:604145	Dilated cardiomyopathy 1G	germline	2	178785990	TGGAGTACGGATATAAGGAACGCATTTCCGCCGCAAAGGTAGCTGAGCCTCCCCAACGTCC
121913116	31397	NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu)	FGFR3	Sep 26, 2013	MedGen:C0410529,OMIM:146000,Orphanet:ORPHA429,SNOMED CT:205468002	Hypochondroplasia	germline	4	1799395	GGGTCAAGGATGGCACAGGGCTGGTGCCCTCGGAGCGTGTCCTGGTGGGGCCCCAGCGGCT
118203909	15690	NM_000130.4(F5):c.3481C>T (p.Arg1161Ter)	F5	Sep 01, 2001	MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED CT:4320005	Factor V deficiency	germline	1	169541609	CCAGAGCTCAGTGAAATGCTTGAGTATGACCGAAGTCACAAGTCCTTCCCCACAGATATAA
866445127	235823	NM_001042492.2(NF1):c.7549C>T (p.Arg2517Ter)	NF1	Feb 01, 2018	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided;not specified	germline	17	31352348	ACCTATCCAACTGTCGGCCAGACCAGTCCCCGAGCCAGGAAATCCATGAGCCTGGACATGG
397514532	48144	NM_001139.2(ALOX12B):c.1642C>T (p.Arg548Trp)	ALOX12B	May 15, 2015	MedGen:C1855792,OMIM:242100;MedGen:CN517202	Autosomal recessive congenital ichthyosis 2;not provided	germline	17	8075607	CAGGAAATATTTAAAGAGTGCCTCCTGGGGCGGGAGAGCTCAGGTATGGGCCTGGACACCT
387907024	39784	NM_018238.3(AGK):c.517C>T (p.Gln173Ter)	AGK	Feb 10, 2012	MedGen:C1859317,OMIM:212350,Orphanet:ORPHA1369	Cataract and cardiomyopathy	germline	7	141615564	ACCCTCTTTGCCGAAAGTGGAAACAAAGTCCAGTAGGTTGTCAATGTGGGGAATTAGCATT
-1	442110	NM_000435.2(NOTCH3):c.3226C>T (p.Arg1076Cys)	NOTCH3	Jun 15, 2016	MedGen:CN517202	not provided	germline	19	15180173	AGCTCCCACTACTGCGTGTGCCCAGAGGGCCGTACTGGTAGCCACTGTGAGCAGGAGGTGG
758316679	431811	NM_015600.4(ABHD12):c.193C>T (p.Arg65Ter)	ABHD12	Jan 01, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Retinal dystrophy	unknown	20	25339350	CTGACCTATTCATTGCTTTTCTCTTGCAGGCGAAAGGGCGTGTGGTTGCGCCTGAGGAAGA
137852272	25679	NM_000133.3(F9):c.484C>T (p.Arg162Ter)	F9	Jul 01, 1990	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139548455	AAGGTGGTTTGCTCCTGTACTGAGGGATATCGACTTGCAGAAAACCAGAAGTCCTGTGAAC
199476084	23269	NM_004329.2(BMPR1A):c.715C>T (p.Gln239Ter)	BMPR1A	Jun 01, 2001	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	germline	10	86917173	ACTATTGCCAAACAGATTCAGATGGTCCGGCAAGTTGGTAAAGGCCGATATGGAGAAGTAT
565203731	358141	NM_014363.5(SACS):c.11374C>T (p.Arg3792Ter)	SACS	Feb 23, 2017	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	germline;unknown	13	23332502	GCAGAAAAAAGGGAATTTCGTTTTCAGTTGCGAGGGGTTGCTTTTGTGATGGTAGAAGATG
1060501181	404297	NM_000328.2(RPGR):c.1366C>T (p.Gln456Ter)	RPGR	Aug 02, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	X	38297332	GTCTTTCCACGATGTTCTGAGAGAAACCTCCAAGAGAGTGTCTTATCTGAACAGGACCTCA
397514558	48266	NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys)	FBN1	Feb 17, 2017	MedGen:C1851286,OMIM:129600;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48490013	GACGAGGAGTGCACCCTGCCTATTGCTGGCCGCCACCGCATGGACGCCTGCTGCTGCTCCG
606231299	167927	NM_003051.3(SLC16A1):c.937C>T (p.Arg313Ter)	SLC16A1	Nov 25, 2014	MedGen:C4016683	Monocarboxylate transporter 1 deficiency, autosomal recessive	germline	1	112917469	TCCATTCTGGCTTTTGTTGACATGGTAGCCCGACCATCTATGGGACTTGTAGCCAACACAA
797044824	204290	NM_020533.2(MCOLN1):c.514C>T (p.Arg172Ter)	MCOLN1	Jul 13, 2017	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001	Mucolipidosis type IV	germline;unknown	19	7526869	GGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACAT
886041518	264789	NM_004380.2(CREBBP):c.6241C>T (p.Gln2081Ter)	CREBBP	Feb 09, 2016	MedGen:CN517202	not provided	germline	16	3728806	CTGCGGACCCTGAAGTCGCCCAGCTCCCCTCAGCAGCAACAGCAGGTGCTGAACATTCTCA
137852856	17696	NM_198428.2(BBS9):c.1792C>T (p.Arg598Ter)	BBS9	Dec 01, 2005	MedGen:C1859567,OMIM:615986	Bardet-Biedl syndrome 9	germline	7	33383668	GCATTTTTCCTTAATTTTTTTCTCTCAGAACGATATCGCATTCAGAGTGAACAATTTGAAG
864309572	215572	NM_001256214.1(ATP1A3):c.1006C>T (p.Pro336Ser)	ATP1A3	May 05, 2015	MedGen:CN517202	not provided	unknown	19	41984944	TTCCTCATCGGCATCATCGTGGCCAATGTCCCAGAGGGTCTGCTGGCCACTGTCACTGTAA
121918579	28142	NM_000283.3(PDE6B):c.892C>T (p.Gln298Ter)	PDE6B	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151107,OMIM:613801	Retinitis pigmentosa;Retinitis pigmentosa 40	germline;unknown	4	654119	GACGTGTGGTCTGTGCTGATGGGAGAGTCCCAGCCGTACTCGGGCCCACGCACGCCTGATG
757075712	222997	NM_003201.2(TFAM):c.533C>T (p.Pro178Leu)	TFAM	Oct 17, 2016	MedGen:C4310690,OMIM:617156;MedGen:CN069134,Orphanet:ORPHA254871	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type);Mitochondrial DNA depletion syndrome, hepatocerebral form	germline;inherited	10	58390856	AAAGATTCCAAGAAGCTAAGGGTGATTCACCGCAGGTAAAGCTGAAATATATTTTTGTTTA
267606789	31578	NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter)	F13A1	Jul 15, 1994	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6151874	GAGTTTACCAATCCTTTAAAAGAAACCCTGCGAAATGTCTGGGTACACCTGGATGGTCCTG
137852973	19583	NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu)	BSCL2	Oct 23, 2017	MedGen:CN043576;MedGen:C2931276,Orphanet:ORPHA100998;MedGen:CN074197,OMIM:270685;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Silver spastic paraplegia syndrome;Spastic paraplegia 17;not provided	germline	11	62702493	CACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGTGATCGGGTGAG
1131690986	420494	NM_000264.4(PTCH1):c.403C>T (p.Arg135Ter)	PTCH1	Nov 19, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	9	95485866	TAAACCTGTACATATTTGTCAGTTGGAGGACGAGTAAGTCGTGAATTAAATTATACTCGCC
-1	481417	NM_139242.3(MTFMT):c.91C>T (p.Arg31Ter)	MTFMT	Nov 08, 2017	MedGen:C3554182,OMIM:614947,Orphanet:ORPHA319524	Combined oxidative phosphorylation deficiency 15	germline	15	65029523	AGGCCGAGTCCCCAGTGGCGAGCACTGGCCCGACTCGGCTGGGAGGACTGCCGGGACTCCA
75239284	427276	NM_000038.5(APC):c.2995C>T (p.Gln999Ter)	APC	-	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112838589	GATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATAC
121912488	29569	NM_002292.3(LAMB2):c.736C>T (p.Arg246Trp)	LAMB2	Nov 01, 2004	MedGen:C1836876,OMIM:609049,Orphanet:ORPHA2670	Pierson syndrome	germline	3	49131129	GCCTCAGACCTGTTGAAGATCACCAACCTACGGGTGAACCTGACTCGTCTACACACGTTGG
137852293	25572	NM_000292.2(PHKA2):c.3341C>T (p.Thr1114Ile)	PHKA2	Jul 24, 2017	MedGen:C2748941;MedGen:C0017927,OMIM:306000	Glycogen storage disease IXa2;Glycogen storage disease type IXa1	germline	X	18894400	TGGTTGCCTGCCTGTCCCTTTGGTAGATGACCCCGCATGAGATCAAGTTTGCTGTCCATGT
28935475	26481	NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys)	HSD17B10	Oct 25, 2017	MedGen:C1845517,OMIM:300438,Orphanet:ORPHA391417	2-methyl-3-hydroxybutyric aciduria	germline	X	53432086	GTGAATCTCATGGGCACCTTCAATGTGATCCGCCTGGTGGCTGGTGAGATGGGCCAGAATG
1057519629	362598	NM_001199107.1(TBC1D24):c.1078C>T (p.Arg360Cys)	TBC1D24	Jan 10, 2017	Human Phenotype Ontology:HP:0001300,MedGen:C0242422,Orphanet:ORPHA68402	Parkinsonism	germline	16	2498332	ATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGT
587781239	165796	NM_130838.1(UBE3A):c.2480C>T (p.Pro827Leu)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	de novo	15	25339216	CTCATACTTGCTTTAATGTGCTTTTACTTCCGGAATACTCAAGCAAAGAAAAACTTAAAGA
797045332	209220	NM_000052.6(ATP7A):c.1639C>T (p.Arg547Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78003168	ATACAACCCCCAATGATAGCAGAGTTCATCCGAGAACTTGGATTTGGAGCCACTGTGATAG
398124072	100707	NM_004006.2(DMD):c.8443C>T (p.Gln2815Ter)	DMD	Apr 09, 2013	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31496892	GACCAGTGGAAGCGTCTGCACCTTTCTCTGCAGGAACTTCTGGTGTGGCTACAGCTGAAAG
886041986	264815	NM_001258221.1(KCTD1):c.97C>T (p.His33Tyr)	KCTD1	Sep 20, 2016	MedGen:CN517202	not provided	germline	18	26501139	GCACAACTCACAAAATCCAATGCGCCTGTCCACATTGATGTGGGCGGCCACATGTACACCA
863225023	213814	NM_001540.4(HSPB1):c.523C>T (p.Gln175Ter)	HSPB1	Jun 07, 2017	MedGen:C1847823,OMIM:606595,Orphanet:ORPHA99940;MedGen:CN517202	Charcot-Marie-Tooth disease type 2F;not provided	germline	7	76304078	GTGGAGGCCCCCATGCCCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCT
794728231	197686	NM_000138.4(FBN1):c.4888C>T (p.Gln1630Ter)	FBN1	Apr 01, 2014	MedGen:CN517202	not provided	germline	15	48465622	GGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGA
199939108	177037	NM_006363.5(SEC23B):c.1648C>T (p.Arg550Ter)	SEC23B	Jan 23, 2014	MedGen:CN517202	not provided	germline	20	18543155	GAGGGGCCCGATGTGCTCCGGTGGCTGGACCGACAACTCATCCGACTGGTAAATTGGGGAC
786204931	187352	NM_000314.6(PTEN):c.367C>T (p.His123Tyr)	PTEN	Jun 28, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	PTEN hamartoma tumor syndrome;not provided	germline	10	87933126	AGTGAAGATGACAATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTG
587784148	168221	NM_022455.4(NSD1):c.5431C>T (p.Arg1811Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177269729	TCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTGACGTGA
200708870	402521	NM_023036.4(DNAI2):c.883C>T (p.Arg295Ter)	DNAI2	Jun 18, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	74301064	TCCTCCCACCAGGTCATGTGGTGGGACATCCGAAAGATGAGCGAGCCCACTGAAGTTGTGA
17860424	22799	NM_001228.4(CASP8):c.793C>T (p.Arg265Trp)	CASP8	Sep 26, 2002	MedGen:C1846545,OMIM:607271,Orphanet:ORPHA275517	Caspase-8 deficiency	germline	2	201276908	ATCATCAACAATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTTCACAGCATTA
121912795	32592	NM_001822.5(CHN1):c.668C>T (p.Ala223Val)	CHN1	Aug 08, 2008	MedGen:C0751083,OMIM:604356	Duane syndrome type 2	germline	2	174824478	TCAGAGGGCCACACTGGTGTGAATACTGTGCCAACTTTATGTGGGGTCTCATTGCTCAGGG
104894358	28530	NM_000217.2(KCNA1):c.1249C>T (p.Arg417Ter)	KCNA1	Aug 16, 2012	MedGen:C1719788,OMIM:160120,Orphanet:ORPHA37612,SNOMED CT:421182009	Episodic ataxia type 1	germline	12	4912627	ATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGT
119103216	16972	NM_020166.4(MCCC1):c.1604C>T (p.Ser535Phe)	MCCC1	Jun 01, 2001	MedGen:CN028786,OMIM:210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	germline	3	183034068	TGAATTTTAAATTTTTTCTAGATCAATTCTCTCCATTTTCGTCTAGCAGTGGAAGAAGACT
121964963	15157	NM_000071.2(CBS):c.434C>T (p.Pro145Leu)	CBS	Jun 01, 1993	MedGen:CN068394	Homocystinuria, pyridoxine-responsive	germline	21	43066260	CGCTGAAGCCCGGGGACACGATTATCGAGCCGACATCCGGGAACACCGGTGGGTGCCAGGC
1057519283	361780	NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter)	KMT2B	Feb 01, 2017	MedGen:C4310633,OMIM:617284	Dystonia 28, childhood-onset	germline	19	35721037	CCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTC
724159948	171868	NM_001396.3(DYRK1A):c.763C>T (p.Arg255Ter)	DYRK1A	Jun 30, 2016	MedGen:C3276611;Human Phenotype Ontology:HP:0000490,MedGen:C0014306;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Absent or delayed speech development;Deeply set eye;Feeding difficulties;Intellectual disability;Mental retardation, autosomal dominant 7;Microcephaly;Seizures	de novo;germline	21	37490273	CTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGT
121913375	48858	NM_004333.4(BRAF):c.1796C>T (p.Thr599Ile)	BRAF	May 13, 2016	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;MedGen:CN517202	Malignant melanoma;Neoplasm;not provided	germline;somatic	7	140753339	CAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATGGAGTGGGTCCCATCA
863224979	213882	NM_004006.2(DMD):c.1324C>T (p.Gln442Ter)	DMD	Dec 16, 2014	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32644139	GAATGCCTCAGGGTAGCTAGCATGGAAAAACAAAGCAAGTAAGTCCTTATTTGTTTTTAAT
104894006	31172	NM_000162.3(GCK):c.556C>T (p.Arg186Ter)	GCK	Apr 13, 2017	MedGen:C4016117;MedGen:CN517202	Diabetes mellitus, noninsulin-dependent, late-onset;not provided	germline	7	44149992	GCAGAAGGGAACAATGTCGTGGGGCTTCTGCGAGACGCTATCAAACGGAGAGGGGTGAGGG
72653744	21611	NM_001171.5(ABCC6):c.3490C>T (p.Arg1164Ter)	ABCC6	Aug 07, 2017	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16163009	GTAGATGAAAGCCAGAGGATCAGTTTCCCGCGACTGGTGGCTGACAGGTAGGAAGAGCCAG
121917780	27132	NM_000196.3(HSD11B2):c.622C>T (p.Arg208Cys)	HSD11B2	Aug 01, 1995	MedGen:C2936861,OMIM:218030	Apparent mineralocorticoid excess	germline	16	67436100	GAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGG
797045176	205702	NM_001753.4(CAV1):c.424C>T (p.Gln142Ter)	CAV1	May 19, 2015	MedGen:C2675861,OMIM:612526	Lipodystrophy, congenital generalized, type 3	de novo	7	116559174	CCATGCATTAAGAGCTTCCTGATTGAGATTCAGTGCATCAGCCGTGTCTATTCCATCTACG
121434376	17323	NM_015046.5(SETX):c.4087C>T (p.Arg1363Ter)	SETX	Mar 01, 2004	MedGen:C1853761,OMIM:606002	Spinocerebellar ataxia autosomal recessive 1	germline	9	132327511	CAGATCAGACCCAAATCACAAAAAAATAGACGAAGACTTTCTGATTGTGAAAGTACAGATG
886041889	264735	NM_013275.5(ANKRD11):c.7552C>T (p.Gln2518Ter)	ANKRD11	Jul 21, 2016	MedGen:CN517202	not provided	germline	16	89275110	CAGGAGGCCGTCCGGGGAAAGCTGCGTCTACAGCACAGCATCGAGCGGGTAAGTGGGCTGG
80358683	66327	NM_000059.3(BRCA2):c.4525C>T (p.Gln1509Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32338880	ACTGGAAATCAACTAGTGACCTTCCAGGGACAACCCGAACGTGATGAAAAGATCAAAGAAC
730882196	181419	NM_000405.4(GM2A):c.164C>T (p.Pro55Leu)	GM2A	Oct 21, 2016	MedGen:CN228274;MedGen:C0268275,OMIM:272750,Orphanet:ORPHA309246,SNOMED CT:71253000	Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy;Tay-Sachs disease, variant AB	germline	5	151259837	CTGCGGTGATCAGAAGCCTGACTCTGGAGCCTGACCCCATCATCGTTCCTGGAAATGTGAC
397517255	54810	NM_015404.3(WHRN):c.1267C>T (p.Arg423Ter)	WHRN	Aug 04, 2010	MedGen:C1568249,OMIM:611383	Usher syndrome, type 2D	germline	9	114424483	GTGACCCTGAGCAGCCTGGGGAACCAGACACGAGTGCTGCTGGAGGAGCAGGCTCGGCACC
121908357	19933	NM_003977.3(AIP):c.64C>T (p.Arg22Ter)	AIP	Jun 21, 2012	MedGen:C0346302,OMIM:102200,Orphanet:ORPHA96256,SNOMED CT:254957009	Somatotroph adenoma	germline	11	67483222	GGGATCCAAAAACGTGTGATACAGGAAGGCCGAGGAGAGCTCCCGGACTTTCAAGATGGGA
137853319	26813	NM_001110556.1(FLNA):c.3872C>T (p.Pro1291Leu)	FLNA	Aug 15, 2007	Gene:2270,MedGen:C1845902,OMIM:300321	FG syndrome 2	germline	X	154359839	ACGCCCGGGCTCTGACACAGACCGGAGGGCCGCACGTCAAGGCCCGTGTGGCCAACCCCTC
58064122	31206	NM_002055.4(GFAP):c.715C>T (p.Arg239Cys)	GFAP	Oct 27, 2017	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44913334	CCAGACCTCACCGCAGCCCTGAAAGAGATCCGCACGCAGTATGAGGCAATGGCGTCCAGCA
121909383	23631	NM_000339.2(SLC12A3):c.1046C>T (p.Pro349Leu)	SLC12A3	Jan 01, 1996	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	germline	16	56872737	CCTTCTTCGGAATGTTCTCCATCTTCTTCCCCTCGGCCACAGGCATCCTGGCAGGGGCCAA
587776991	70467	NM_001142864.3(PIEZO1):c.6380C>T (p.Thr2127Met)	PIEZO1	May 09, 2013	Gene:10774,MedGen:C0272051,OMIM:194380,Orphanet:ORPHA3202,SNOMED CT:87994004	Xerocytosis	germline	16	88719665	AGCTGCGGGCAGTGATGGACTGGGTGTGGACGGACACCACGCTGTCCCTGTCCAGCTGGAT
606231424	170960	NM_016026.3(RDH11):c.322C>T (p.Arg108Ter)	RDH11	Dec 01, 2014	MedGen:C4015242,OMIM:616108,Orphanet:ORPHA436245	Retinal dystrophy, juvenile cataracts, and short stature syndrome	germline;maternal	14	67692465	AAACTGGACCTGTCTGATACTAAGTCTATTCGAGCTTTTGCTAAGGGCTTCTTAGCTGGTA
121434494	23074	NM_005535.2(IL12RB1):c.637C>T (p.Arg213Trp)	IL12RB1	Apr 18, 2013	MedGen:C4013949,OMIM:614891,Orphanet:ORPHA319552	Immunodeficiency 30	germline	19	18075812	AATGTGGCCCAGGAATTCCAGCTCCGACGACGGCAGCTGGGGAGCCAAGGAAGTTCCTGGA
397516827	49073	NM_002880.3(RAF1):c.776C>T (p.Ser259Phe)	RAF1	May 13, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733	Noonan syndrome;Rasopathy	germline;somatic	3	12604194	GTTCCCTCTCCCAGAGGCAGAGGTCGACATCCACACCTAATGTCCACATGGTCAGCACCAC
-1	488127	NM_201589.3(MAFA):c.191C>T (p.Ser64Phe)	MAFA	Mar 19, 2018	MedGen:C1578917,OMIM:147630	Islet cell adenomatosis	germline	8	143430216	CGCTCAGCACGCCCTGCTCCTCCGTGCCCTCCTCGCCCAGCTTCTGCGCGCCCAGCCCGGG
886040220	261657	NM_007294.3(BRCA1):c.4270C>T (p.Gln1424Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43082491	CTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAA
370167241	206947	NM_004826.3(ECEL1):c.997C>T (p.Arg333Ter)	ECEL1	Feb 10, 2017	MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457;MedGen:CN517202	Arthrogryposis, distal, type 5d;not provided	germline	2	232484863	ATCACTGTGTCAGAGCATGACGACCTACGGCGAGATGTCAGCTCCATGTACAACAAGGTGA
121964973	15171	NM_000071.2(CBS):c.572C>T (p.Thr191Met)	CBS	Jun 05, 2017	Human Phenotype Ontology:HP:0002156,MedGen:C0019880;MedGen:C3150344,OMIM:236200;MedGen:CN068393;MedGen:CN517202	Homocystinuria;Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-nonresponsive;not provided	germline;unknown	21	43065481	TGCGGGCACTGGGGGCTGAGATTGTGAGGACGCCCACCAATGCCAGGTTCGACTCCCCGGA
875989913	228155	NM_000527.4(LDLR):c.1033C>T (p.Gln345Ter)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11110744	GGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTG
886039413	260001	NM_130799.2(MEN1):c.292C>T (p.Arg98Ter)	MEN1	Jul 29, 2016	MedGen:CN517202	not provided	germline	11	64809818	GCCCTCTATGCCCGCTTCACCGCCCAGATCCGAGGCGCCGTCGACCTGTCCCTCTATCCTC
397509424	75123	NM_013334.3(GMPPB):c.64C>T (p.Pro22Ser)	GMPPB	Jul 11, 2013	MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	germline	3	49723663	ACGCGGCTACGGCCGCTGACGCTGAGCACCCCGAAGCCACTGGTGGACTTCTGCAATAAGC
62642913	108635	NM_000277.2(PAH):c.929C>T (p.Ser310Phe)	PAH	Jul 14, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102846935	TCCCCCAATTACAGGAAATTGGCCTTGCCTCTCTGGGTGCACCTGATGAATACATTGAAAA
121912766	32741	NM_001202.5(BMP4):c.1037C>T (p.Ala346Val)	BMP4	Mar 01, 2009	MedGen:C2677434,OMIM:600625	Orofacial cleft 11	germline	14	53950222	ACTGCCATGGGGACTGCCCCTTTCCACTGGCTGACCACCTCAACTCAACCAACCATGCCAT
1057517241	358654	NM_000383.3(AIRE):c.517C>T (p.Gln173Ter)	AIRE	Oct 25, 2016	MedGen:C0085859,OMIM:240300,Orphanet:ORPHA3453,SNOMED CT:11244009;MedGen:CN517202	Polyglandular autoimmune syndrome, type 1;not provided	germline;unknown	21	44287570	CCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGG
118203913	15824	NM_052859.3(RFT1):c.199C>T (p.Arg67Cys)	RFT1	Oct 01, 2009	MedGen:C2677590,OMIM:612015,Orphanet:ORPHA244310	Congenital disorder of glycosylation type 1N	germline	3	53123791	ACCACCCTCTTCCTGGCCAGAGAGGCCTTCCGCAGAGCATGTCTCAGTGGGGGCACCCAGC
145489194	20004	NM_018136.4(ASPM):c.2389C>T (p.Arg797Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197133380	ATTGAAATTGAAGCTAGGCGGTTAATTGTTCGAAAAGATAGACACCTATGGAAAGATGTGG
132630313	26075	NM_001399.4(EDA):c.466C>T (p.Arg156Cys)	EDA	May 23, 2017	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005;MedGen:CN517202	Hypohidrotic X-linked ectodermal dysplasia;not provided	germline	X	69957096	TACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAG
118204453	16022	NM_024782.2(NHEJ1):c.532C>T (p.Arg178Ter)	NHEJ1	Jul 12, 2017	MedGen:C1969799,OMIM:611291,Orphanet:ORPHA169079;MedGen:CN517202	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;not provided	germline	2	219146736	TTCTTTTTTCTGATCCTTCTTATTACAGATCGATTGAAGACAGAACCATTTGAAGAAAATT
104893781	28073	NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	RHO	Oct 01, 1991	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129532636	TGGTCATCGCTTTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCAC
118203914	15441	NM_000353.2(TAT):c.169C>T (p.Arg57Ter)	TAT	Oct 01, 1992	MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378	Tyrosinemia type 2	germline	16	71576247	GACATGGCCAAGAAAACTTTCAACCCCATCCGAGCCATTGTGGACAACATGAAGGTGAAAC
587777010	70569	NM_006494.3(ERF):c.1270C>T (p.Gln424Ter)	ERF	Mar 01, 2013	Human Phenotype Ontology:HP:0004443,MedGen:C1833340,OMIM:600775	Craniosynostosis 4	germline	19	42248842	GGGGCGCTAGCCCCACCGCCCCCGCCACCACAGATCAAGGTGGAGCCCATCTCGGAAGGCG
375323253	188067	NM_001572.3(IRF7):c.1261C>T (p.Gln421Ter)	IRF7	Apr 24, 2015	MedGen:C4225358,OMIM:616345	Immunodeficiency 39	germline	11	613094	TCTTCAGAGCTGGTGGAATTCCGGGCACGGCAGCGCCGTGGCTCCCCACGCTATACCATCT
387906650	38741	NM_002382.4(MAX):c.223C>T (p.Arg75Ter)	MAX	Jun 27, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C3149711	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Pheochromocytoma, susceptibility to	germline	14	65077985	GACAAAGCCACAGAATATATCCAGTATATGCGAAGGAAAAACCACACACACCAGCAAGATA
202039305	264592	NM_002693.2(POLG):c.202C>T (p.Gln68Ter)	POLG	Jun 30, 2016	MedGen:CN517202	not provided	germline	15	89333553	CAGCCGCAAGTGCTATCCTCGGAGGGCGGGCAGCTGCGGCACAACCCATTGGACATCCAGA
773643220	442418	NM_004006.2(DMD):c.5851C>T (p.Gln1951Ter)	DMD	Oct 24, 2016	MedGen:CN517202	not provided	germline	X	32342171	GCCGCAATGGCAGTGGAGCCAACTCAGATCCAGCTCAGCAAGCGCTGGCGGGAAATTGAGA
121917820	22037	NM_001264.4(CDSN):c.598C>T (p.Gln200Ter)	CDSN	Jun 01, 2003	MedGen:C1840299,OMIM:146520,Orphanet:ORPHA90368	Hypotrichosis 2	germline	6	31117017	TCCCAGCCTGGACAAAGCTCTTCCTCTTCCCAGACCTTTGGGGTATCCAGCAGTGGCCAAA
121912546	29890	NM_005515.3(MNX1):c.775C>T (p.Gln259Ter)	MNX1	Dec 01, 1998	MedGen:C1531773,OMIM:176450,SNOMED CT:413936007	Currarino triad	germline	7	157006556	ACCAGCCAGCAGCTGCTGGAGCTGGAGCACCAGTTCAAGCTCAACAAGTACCTGTCGCGGC
1057517701	359371	NM_000350.2(ABCA4):c.3403C>T (p.Gln1135Ter)	ABCA4	Aug 04, 2016	MedGen:CN517202	not provided	germline	1	94041328	CTCCTTGGGGACCGCATTGCCATCATTGCCCAGGGAAGGCTCTACTGCTCAGGCACCCCAC
111033618	25066	NM_000206.2(IL2RG):c.664C>T (p.Arg222Cys)	IL2RG	Dec 15, 1997	MedGen:C1706416,OMIM:312863	Combined immunodeficiency, X-linked	germline	X	71109321	AGTGTGGATGGGCAGAAACGCTACACGTTTCGTGTTCGGAGCCGCTTTAACCCACTCTGTG
727504777	174459	NM_032119.3(ADGRV1):c.12631C>T (p.Arg4211Ter)	ADGRV1	Oct 11, 2013	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90778008	TTTGCTGAAACATCAGGAAAACTGACAATGCGAGACGAACAGTCTGCAGTCATTGTAGTAA
587777879	165481	NM_000166.5(GJB1):c.790C>T (p.Arg264Cys)	GJB1	-	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	germline	X	71224497	GAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGG
121913595	29220	NM_000530.7(MPZ):c.371C>T (p.Thr124Met)	MPZ	Feb 09, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C1843153,OMIM:607736,Orphanet:ORPHA99943;MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 2J;Charcot-Marie-Tooth disease, demyelinating, type 1b;not provided	germline	1	161306785	TACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGA
-1	485850	NM_000044.4(AR):c.2437C>T (p.Leu813Phe)	AR	Apr 25, 2016	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67721951	CAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGC
606231416	171268	NM_001519.3(BRF1):c.677C>T (p.Ser226Leu)	BRF1	Jan 05, 2015	MedGen:C4015495,OMIM:616202,Orphanet:ORPHA444072;MedGen:CN221667	Cerebellofaciodental syndrome;cerebellar-facial-dental syndrome	germline	14	105241282	GGGACTGGATGCACACAGGCCGGCGCCCCTCGGGCCTCTGCGGAGCAGGTACAGCGGGCCC
387907237	44234	NM_016098.3(MPC1):c.289C>T (p.Arg97Trp)	MPC1	Jul 06, 2012	MedGen:C3553607,OMIM:614741,Orphanet:ORPHA447784	Mitochondrial pyruvate carrier deficiency	germline	6	166365990	AATGAAGTAGCCCAGCTCATCCAGGGAGGGCGGCTTATCAAACACGAGTAAGCAGATTTCA
777354267	181497	NM_004064.4(CDKN1B):c.206C>T (p.Pro69Leu)	CDKN1B	Nov 01, 2010	MedGen:C1970712,OMIM:610755,Orphanet:ORPHA276152	Multiple endocrine neoplasia, type 4	germline	12	12718045	AGTGGAATTTCGATTTTCAGAATCACAAACCCCTAGAGGGCAAGTACGAGTGGCAAGAGGT
121909512	33385	NM_000080.3(CHRNE):c.422C>T (p.Pro141Leu)	CHRNE	Jul 01, 1996	MedGen:C4225369,OMIM:616324	Myasthenic syndrome, congenital, 4b, fast-channel	germline	17	4902010	ACGAGGGCGGCTCCGTGACGTGGCTGCCTCCGGCCATCTACCGCAGCGTCTGCGCAGTGGA
128626241	26286	NM_004006.2(DMD):c.1489C>T (p.Gln497Ter)	DMD	Nov 01, 1993	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32595870	CCTTTAAAACATTTTATCTTTCAGGTGCTTCAAGAAGATCTAGAACAAGAACAAGTCAGGG
72558463	103243	NM_000531.5(OTC):c.904C>T (p.His302Tyr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411898	AAAGTTGCTGCCTCTGACTGGACATTTTTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGG
104895530	16628	NM_001127255.1(NLRP7):c.1294C>T (p.Arg432Ter)	NLRP7	Aug 01, 2009	MedGen:C2931618,OMIM:231090,Orphanet:ORPHA254685	Hydatidiform mole	germline	19	54939525	GGCCTGTGGGCGCAGATGTCCGTGTTCCACCGAGAGGACCTGGAAAGGCTCGGGGTGCAGG
730880294	178839	NM_001145392.1(TSEN2):c.691C>T (p.Gln231Ter)	TSEN2	Jun 01, 2013	MedGen:C2676466,OMIM:612389	Pontocerebellar hypoplasia type 2B	germline	3	12503644	TGTTGCTGCAAACAAGATGCTCTCATCCTCCAGCGTGGCCTTCATCATGAAGACGGCAGCC
149806989	357620	NM_000466.2(PEX1):c.547C>T (p.Arg183Ter)	PEX1	Oct 11, 2016	MedGen:CN168921,OMIM:601539;MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:88469006	Peroxisome biogenesis disorder 1B;Zellweger syndrome	unknown	7	92517968	ACCAAACTCCTTATTCAGCCAAAGACACGCCGAGCCAAAGAGAATACATTTTCAAAAGCTG
137852286	25567	NM_000292.2(PHKA2):c.2296C>T (p.Gln766Ter)	PHKA2	Jan 01, 1995	MedGen:C0017927,OMIM:306000	Glycogen storage disease type IXa1	germline	X	18908865	GGTGACGTGGACTGTGAGAAGCTGGTTGAGCAGCTAAAAGATTGTTCGAACCTACAGGACC
587777396	136563	NM_002641.3(PIGA):c.355C>T (p.Arg119Trp)	PIGA	Aug 23, 2017	MedGen:C3275508,OMIM:300868,Orphanet:ORPHA300496;MedGen:CN517202	Multiple congenital anomalies-hypotonia-seizures syndrome 2;not provided	germline	X	15331576	AGTCTGCCATTGCTCAGGTACATATTTGTTCGGGAGAGAGTCACGATAATCCATTCACATA
387906418	24597	m.5545C>T	MT-TW	Jun 15, 2008	MedGen:C4016630	Encephalocardiomyopathy, mitochondrial	germline	MT	5545	AATTTAGGTTAAATACAGACCAAGAGCCTTCAAAGCCCTCAGTAAGTTGCAATACTTAATT
121918228	16652	NM_014780.4(CUL7):c.4333C>T (p.Arg1445Ter)	CUL7	Jan 23, 2018	MedGen:C1848862,OMIM:273750;MedGen:CN517202	Three M syndrome 1;not provided	germline	6	43038949	CACCCTGCCCTTGAGCGAGGCTCACAGAGGCGACTGCAGTGGACGTGGCTGGGCTGGGCTG
397508012	67354	NM_000059.3(BRCA2):c.8821C>T (p.Gln2941Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32379383	AATCACAGGCAAATGTTGAATGATAAGAAACAAGCTCAGATCCAGTTGGAAATTAGGAAGG
121913305	132295	NM_000321.2(RB1):c.1735C>T (p.Arg579Ter)	RB1	Oct 05, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Retinoblastoma;not provided	germline;somatic	13	48453032	TTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGGACCAACTGATCACCTTGAATCTG
587777069	94429	NM_032229.2(SLITRK6):c.1240C>T (p.Gln414Ter)	SLITRK6	Nov 24, 2014	MedGen:C1857342,OMIM:221200	Deafness and myopia	germline	13	85795269	GAAGGATCGTTTATGAACCTAACGAGATTACAAAAACTCTATCTAAATGGTAACCACCTGA
398122559	96928	NM_000059.3(BRCA2):c.6487C>T (p.Gln2163Ter)	BRCA2	Mar 08, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	germline	13	32340842	CCATATCTCTCTCAATTTCAACAAGACAAACAACAGTTGGTATTAGGAACCAAAGTGTCAC
587783592	169849	NM_178151.2(DCX):c.907C>T (p.Arg303Ter)	DCX	May 16, 2017	Human Phenotype Ontology:HP:0002282,MedGen:C0008519;MedGen:CN517202	Heterotopia;not provided	germline	X	111330943	ACTTCAGCCAAGAGCCCTGGTCCTATGCGCCGAAGCAAGTCTCCAGCTGACTCAGGTAACG
398123513	99288	NM_000709.3(BCKDHA):c.964C>T (p.Gln322Ter)	BCKDHA	Jan 21, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	19	41422739	GAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACA
587783505	169215	NM_004380.2(CREBBP):c.5821C>T (p.Gln1941Ter)	CREBBP	Oct 10, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3729226	ACCACGGTGTCCACAGGGAAGCCTACCAGCCAGGTGCCGGCCCCCCCACCCCCGGCCCAGC
587777591	152756	NM_020745.3(AARS2):c.1561C>T (p.Arg521Ter)	AARS2	Sep 08, 2017	MedGen:C3279793,OMIM:614096,Orphanet:ORPHA319504;MedGen:C4014588,OMIM:615889	Combined oxidative phosphorylation deficiency 8;Leukoencephalopathy, progressive, with ovarian failure	germline;paternal	6	44305072	GACGACAGCCCCAAGTACAACTACTCCCTGCGACCCAGCGGAAGTTATGGTGAGAGCCTGG
145945630	182313	NM_000038.5(APC):c.70C>T (p.Arg24Ter)	APC	Aug 04, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	germline;unknown	5	112754960	GAGGCACTGAAGATGGAGAACTCAAATCTTCGACAAGAGCTAGAAGATAATTCCAATCATC
28936396	23568	NM_000178.3(GSS):c.373C>T (p.Arg125Cys)	GSS	Nov 01, 1996	Human Phenotype Ontology:HP:0003343,MedGen:C0398746,OMIM:266130,Orphanet:ORPHA289846,SNOMED CT:234589002	Gluthathione synthetase deficiency	germline	20	34942606	TCCCCACAGACTGTGTTCCTGGGCCTGAATCGCTCAGACTACATGTTCCAGCGCAGCGCAG
776749939	198652	NM_003900.4(SQSTM1):c.1160C>T (p.Pro387Leu)	SQSTM1	Jan 18, 2017	MedGen:C4225326,OMIM:616437;MedGen:CN517202	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;not provided	germline	5	179833777	TGAAGGAAGCTGCCTTGTACCCACATCTCCCGCCAGGCAAGTGAACCAAGAGGTTTTGTAC
121434344	17072	NM_017780.3(CHD7):c.2501C>T (p.Ser834Phe)	CHD7	Oct 01, 2008	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:C3552136	CHARGE association;Hypogonadotropic hypogonadism 5 without anosmia	germline	8	60816389	TTTCAAGGATATTGTTTTGTTCTTTCAGCTCTTATCTTCATTGTCAGTGGGCATCTATAGA
863223454	210097	NM_000093.4(COL5A1):c.4282C>T (p.Gln1428Ter)	COL5A1	Jul 01, 2014	MedGen:CN517202	not provided	germline	9	134818707	CCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATG
375717077	48081	NM_005327.4(HADH):c.706C>T (p.Arg236Ter)	HADH	Mar 01, 2011	MedGen:C1864948,OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	germline	4	108027757	TACCTCATGGAAGCAATCAGGCTGTATGAACGAGGTATCCTTCTGACCCAGGCCAGGAGCA
111033260	19972	NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15	Oct 18, 2017	MedGen:C1836027,OMIM:609533;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:C1832845,OMIM:601067;MedGen:C1865885,OMIM:602083;MedGen:C1865885,OMIM:602083;MedGen:C1847089,OMIM:606943;MedGen:CN517202	Deafness, autosomal recessive 23;Usher syndrome, type 1;Usher syndrome, type 1D;Usher syndrome, type 1F;Usher syndrome, type 1F;Usher syndrome, type 1G;not provided	germline;unknown	10	54317414	CAGGACCGTGCCCAAAATCTGAATGAGAGGCGAACCACCACCACCACTCTCACAGTGGATG
869312692	225859	NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter)	DDX3X	Jul 01, 2015	MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260	Mental retardation, X-linked 102	de novo	X	41343291	CTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGA
781590560	198119	NM_001927.3(DES):c.634C>T (p.Arg212Ter)	DES	Nov 03, 2014	MedGen:CN517202	not provided	germline	2	219420150	GAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAGCGGTGAGTGCCCTTCTTTTCCCCTTGC
562890289	375819	NM_003119.3(SPG7):c.1447C>T (p.Gln483Ter)	SPG7	Mar 07, 2017	MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006;MedGen:CN517202	Hereditary spastic paraplegia;not provided	germline;inherited	16	89544770	CGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCA
397507411	46735	NM_000059.3(BRCA2):c.8695C>T (p.Gln2899Ter)	BRCA2	Nov 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN169374	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not specified	germline	13	32376732	GCACTAACAAGACAGCAAGTTCGTGCTTTGCAAGATGGTGCAGAGCTTTATGAAGCAGTGA
121909118	22417	NM_005506.3(SCARB2):c.862C>T (p.Gln288Ter)	SCARB2	Mar 17, 2017	MedGen:C0751779,OMIM:254900,Orphanet:ORPHA163696;MedGen:CN517202	Epilepsy, progressive myoclonic 4, with or without renal failure;not provided	germline	4	76174276	TATATTACTTTCAGTGACTATGAGAGTGTACAGGGACTGCCTGCCTTTCGGTATAAAGTTC
119478058	19809	NM_030943.3(AMN):c.122C>T (p.Thr41Ile)	AMN	Mar 01, 2003	MedGen:C4016948	Megaloblastic anemia 1, Norwegian type	germline	14	102923789	ACGTCGCAGCCAACTGGAGCCAGAACCGGACCCCGTGCGCCGGCGGCGCCGTTGAGTTCCC
63751221	45212	NM_000249.3(MLH1):c.298C>T (p.Arg100Ter)	MLH1	Sep 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;not provided	germline;unknown	3	37001045	GATTTAGCCAGTATTTCTACCTATGGCTTTCGAGGTGAGGTAAGCTAAAGATTCAAGAAAT
587780226	133611	NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter)	BRIP1	Sep 18, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	61799125	AATATAAGGAAGAAAGATCATGAACCCCTACGAGCTGTGTGCTGTAGCCTCATTAAGTAAG
121918339	18148	NM_139319.2(SLC17A8):c.632C>T (p.Ala211Val)	SLC17A8	Jun 26, 2015	MedGen:C1854158,OMIM:605583	Deafness, autosomal dominant 25	germline	12	100396373	CAGCCTGCCATGGGATGTGGAGTAAGTGGGCACCACCTTTGGAGAGAAGCCGACTGGCCAC
61754425	153352	NM_004992.3(MECP2):c.55C>T (p.Gln19Ter)	MECP2	Feb 15, 2011	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	de novo	X	154032529	AGGGAAGAAAAGTCAGAAGACCAGGACCTCCAGGGCCTCAAGGACAAACCCCTCAAGTTTA
387906641	38723	NM_004523.3(KIF11):c.1159C>T (p.Arg387Ter)	KIF11	Feb 10, 2012	MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	germline	10	92621415	GAGTATACGGAGGAGATAGAACGTTTAAAACGAGATCTTGCTGCAGCCCGTGAGAAAAATG
-1	446549	NM_000425.4(L1CAM):c.1267C>T (p.Gln423Ter)	L1CAM	Jul 27, 2017	MedGen:CN517202	not provided	germline	X	153869520	TTGCTGGCCAATGCCTACATCTACGTTGTCCGTGAGTGCCCTCCCTTCCTTACCTCCTAAC
878853226	237616	NM_004086.2(COCH):c.1159C>T (p.Leu387Phe)	COCH	Feb 16, 2016	MedGen:C1832425,OMIM:601369	Deafness, autosomal dominant 9	germline	14	30885994	AGTGTTGGAGATAGCAATTTCCGCCTCATGCTTGAATTTGTTTCCAACATAGCCAAGACTT
118204050	15791	NM_015346.3(ZFYVE26):c.1477C>T (p.Gln493Ter)	ZFYVE26	Apr 01, 2008	MedGen:C1849128,OMIM:270700,Orphanet:ORPHA100996	Spastic paraplegia 15	germline	14	67802241	GCTCCAGTCCCTGAGCACCTGAGCCAGTGTCAGAACCTGACACTCTACCAGGGCTTCTGTG
757966746	237361	NM_001161766.1(AHCY):c.209C>T (p.Pro70Leu)	AHCY	May 19, 2014	MedGen:CN517202	not provided	germline	20	34294083	CGGCGGCTGCCATTGCCAAGGCTGGCATTCCGGGTAAGTCCTGCTTGCTTCTGAGACGTGG
398122360	94414	NM_006735.3(HOXA2):c.703C>T (p.Gln235Ter)	HOXA2	Nov 22, 2013	MedGen:C2676772,OMIM:612290,Orphanet:ORPHA140963	Microtia, hearing impairment, and cleft palate	germline	7	27101154	GAGGACGAGGAAGAGAAGACGCTCTTTGAGCAAGCCCTTAGCGTCTCTGGGGCCCTTCTGG
104893611	20226	NM_032545.3(CFC1):c.334C>T (p.Arg112Cys)	CFC1	Nov 01, 2000	MedGen:C1854334,OMIM:605376	Heterotaxy, visceral, 2, autosomal	germline	2	130597896	TTCTGCGTGTGCCCGGCCCACTTCACCGGCCGCTACTGCGAGCATGACCAGAGGCGCAGGT
397517337	55137	NM_022124.5(CDH23):c.5272C>T (p.Gln1758Ter)	CDH23	Feb 20, 2012	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71779351	TATGAGGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTTCCTGG
797045209	207846	NM_000352.4(ABCC8):c.3544C>T (p.Arg1182Trp)	ABCC8	Nov 24, 2014	MedGen:C1835887,OMIM:610374	Transient neonatal diabetes mellitus 2	germline	11	17404525	ATCGTGTGCTACTTCATCCAGAAGTACTTCCGGGTGGCGTCCAGGTGATGGCCTCAGGGGT
-1	425975	NM_152641.3(ARID2):c.2758C>T (p.Gln920Ter)	ARID2	May 25, 2017	MedGen:CN517202	not provided	germline	12	45850881	GTGGTACAGCAGCCTATTCAACAACCACAGCAGCCAACCCAACAAAGCGTAGTGATTGTAA
80044281	16434	NM_018418.4(SPATA7):c.322C>T (p.Arg108Ter)	SPATA7	Jun 14, 2016	MedGen:C1858677,OMIM:604232;MedGen:CN239422	Leber congenital amaurosis 3;SPATA7-Related Disorders	germline	14	88416794	AAAGAGTTCAAATTAACTAAAACTGCAATGCGAGCCAATTATAAAAATAATTCCAAGTCAC
121965080	26890	NM_000260.3(MYO7A):c.634C>T (p.Arg212Cys)	MYO7A	Oct 10, 1995	MedGen:C1848638	Usher syndrome, type 1B	germline	11	77156903	GCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCA
397514679	50325	NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)	SYN1	Jun 01, 2013	MedGen:C1845343,OMIM:300491,Orphanet:ORPHA85294	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	germline	X	47574321	GCAGCCCGCCCGCCCGCCTCTCCGTCTCCCCAGCGCCAGGCGGGCCCCCCACAGGCTACCC
118204097	16487	NM_000190.3(HMBS):c.463C>T (p.Gln155Ter)	HMBS	Oct 01, 1990	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119090230	ACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCCCGCATCTGGAGTTCAGGA
370880399	214177	NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter)	CC2D2A	Apr 07, 2017	MedGen:C2676788,OMIM:612285;MedGen:CN517202	Joubert syndrome 9;not provided	germline;unknown	4	15563395	CTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGGA
730880586	179217	NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter)	MYBPC3	May 24, 2017	MedGen:CN517202	not provided	germline	11	47333713	CGGCCTCAGGTGACCTGGACCAAAGAGGGGCAGCCCCTGGCAGGCGAGGAGGTGAGCATCC
755800734	441131	NM_031443.3(CCM2):c.55C>T (p.Arg19Ter)	CCM2	Aug 02, 2017	MedGen:CN517202	not provided	germline	7	45038277	CTGCAGCCTGGAATTGTCTCGCCATTTAAACGAGTATTCCTAAAAGGTGAAAAGAGTAGAG
137852355	25125	NM_000132.3(F8):c.6682C>T (p.Arg2228Ter)	F8	Nov 27, 1986	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154861759	ATGTTTGCCACCTGGTCTCCTTCAAAAGCTCGACTTCACCTCCAAGGGAGGAGTAATGCCT
-1	481612	NM_021007.2(SCN2A):c.4591C>T (p.Gln1531Ter)	SCN2A	Jan 19, 2018	MedGen:CN517202	not provided	germline	2	165386785	CAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCA
121434404	21273	NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter)	MTMR2	May 01, 2000	MedGen:C1832399,OMIM:601382,Orphanet:ORPHA99955	Charcot-Marie-Tooth disease, type 4B1	germline	11	95841652	GCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAA
886038001	249129	NM_007294.3(BRCA1):c.2599C>T (p.Gln867Ter)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:CN517202	Breast-ovarian cancer, familial 1;not provided	germline	17	43092932	TTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAA
757415879	295241	NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter)	COL7A1	Jun 14, 2016	MedGen:C0079294,Orphanet:ORPHA303,SNOMED CT:254185007	Dystrophic epidermolysis bullosa	germline	3	48576272	CTCCAGGGCCTCCCTGGAGAGCGTGGCCTGCGAGGAGAGCCTGGAAGTGTGCCGGTGAGCC
730881240	180185	NM_000038.5(APC):c.1987C>T (p.Gln663Ter)	APC	Dec 21, 2016	MedGen:C2713442,OMIM:175100;MedGen:CN517202	Familial adenomatous polyposis 1;not provided	germline	5	112837581	AGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATA
121917815	20029	NM_001177800.1(ADIPOQ):c.334C>T (p.Arg112Cys)	ADIPOQ	Oct 10, 2003	MedGen:C2675519	Hypoadiponectinemia	germline	3	186854303	GGAGAACCTGGAGAAGGTGCCTATGTATACCGCTCAGCATTCAGTGTGGGATTGGAGACTT
114269482	36720	NM_003060.3(SLC22A5):c.695C>T (p.Thr232Met)	SLC22A5	Jun 20, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline	5	132385370	TTGGCAAGTCAGTTCGTATAATATTCTCTACGTTAGGAGTGTGCATATTTTATGCATTTGG
-1	448998	NM_001165963.2(SCN1A):c.4109C>T (p.Ala1370Val)	SCN1A	Jun 20, 2017	MedGen:C0393706,Orphanet:ORPHA1934	Early infantile epileptic encephalopathy	germline	2	166002647	TTTTCAGCATCATGGGCGTAAATTTGTTTGCTGGCAAATTCTACCACTGTATTAACACCAC
118203996	16297	NM_001146289.1(P3H1):c.1102C>T (p.Arg368Ter)	P3H1	Oct 02, 2014	MedGen:C1970458,OMIM:610915;MedGen:CN517202	Osteogenesis imperfecta type 8;not provided	germline	1	42755616	TACCCTCAGAGTGCCAAGGAGTACCGACAGCGAAGCCTACTGGAAAAAGAACTGCTTTTCT
104893895	217218	NM_002449.4(MSX2):c.443C>T (p.Pro148Leu)	MSX2	Oct 01, 2013	MedGen:C1858160,OMIM:604757	Craniosynostosis 2	germline	5	174729222	AACACAAGACCAATCGGAAGCCGCGCACGCCCTTTACCACATCCCAGCTCCTCGCCCTGGA
113422242	197789	NM_000138.4(FBN1):c.1693C>T (p.Arg565Ter)	FBN1	Jan 06, 2017	MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202;MedGen:CN169374	Thoracic aortic aneurysm and aortic dissection;not provided;not specified	germline	15	48510065	TGCGTGTGTAATGCGGGCTTTCATGTTACACGAGATGGGAAGAACTGTGAAGGTAATAATA
886040464	261174	NM_000059.3(BRCA2):c.3217C>T (p.Gln1073Ter)	BRCA2	Aug 22, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32337572	CAGTCAATTAATACTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAAAA
66616070	426957	NM_001171.5(ABCC6):c.2245C>T (p.Gln749Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182414	CCTGAGGGAATCCACACTTCAATTGGGGAGCAGGTGAGAGTTTGGGGGTCTTTTTGGGACA
62641228	17191	NM_017929.5(PEX26):c.292C>T (p.Arg98Trp)	PEX26	Jun 02, 2016	MedGen:C3539168,OMIM:614872;MedGen:C3553951,OMIM:614873	Peroxisome biogenesis disorder 7A;Peroxisome biogenesis disorder 7B	germline	22	18079935	GTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTC
794728276	197596	NM_000138.4(FBN1):c.7624C>T (p.Gln2542Ter)	FBN1	Jun 19, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48421633	ATCAATCTGTGCGGGTCTAAGGGCATTTGCCAGAACACTCCTGGAAGCTTCACCTGTGAAT
764952788	262112	NM_015247.2(CYLD):c.1327C>T (p.Gln443Ter)	CYLD	Sep 23, 2016	MedGen:C1851526,OMIM:132700	Cylindromatosis, familial	germline	16	50779853	ATTGGCCACAGTCCACTTTCTCTGTCAGCCCAGTCTGTAATGGAAGAGCTAAACACTGCAC
876657678	230443	NM_000059.3(BRCA2):c.3187C>T (p.Gln1063Ter)	BRCA2	Jul 06, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	germline	13	32337542	TTAGATAATCAAAAGAAACTGAGCAAGCCTCAGTCAATTAATACTGTATCTGCACATTTAC
886037925	248738	NM_001033855.2(DCLRE1C):c.194C>T (p.Thr65Ile)	DCLRE1C	Sep 14, 2016	MedGen:C1865370,OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	germline	10	14945157	TGAAGGTTTATCTATACTGTTCACCTGTGACTAAGGAGTTGTTGTTAACGAGCCCGAAATA
797045915	207445	NM_005045.3(RELN):c.5587C>T (p.Gln1863Ter)	RELN	Mar 07, 2015	MedGen:C0796089,OMIM:257320,Orphanet:ORPHA89844	Lissencephaly 2	germline	7	103557992	GATCTAGATTGTACAAATACAATGTATGTCCAGTTTTCACTTAGATTTATAGCAAAAAGTA
267607623	196476	NM_170707.3(LMNA):c.1057C>T (p.Gln353Ter)	LMNA	Aug 16, 2017	MedGen:CN230736;MedGen:CN043576;MedGen:CN517202	Cardiovascular phenotype;Charcot-Marie-Tooth disease, type 2;not provided	germline	1	156136021	CGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTC
-1	445007	NM_001844.4(COL2A1):c.2101C>T (p.Arg701Ter)	COL2A1	Oct 26, 2017	MedGen:CN517202	not provided	germline	12	47982940	CACTTCTTGGTGTCTCTGCCGCAGGGTGAACGAGGTTTCCCAGGTGAACGTGGCTCTCCCG
121909323	23545	NM_001127221.1(CACNA1A):c.3832C>T (p.Arg1278Ter)	CACNA1A	Nov 25, 2014	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Episodic ataxia type 2	germline;paternal;unknown	19	13277122	CTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCT
-1	481816	NM_006766.4(KAT6A):c.3055C>T (p.Arg1019Ter)	KAT6A	Nov 15, 2017	MedGen:CN517202	not provided	germline	8	41937553	TTCTCTATTAAACAGAAACCATTTCTCCACCGAAGGAGGAGAGTCCGAAAGCGCAAACACC
1021662947	484718	NM_024675.3(PALB2):c.3166C>T (p.Gln1056Ter)	PALB2	Oct 09, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23614039	CTGAAAAAGATGCACATTGATGATTCTTACCAAGCTTCAGTCTGTCACAAAGCCTATTCTG
765998048	259988	NM_004183.3(BEST1):c.604C>T (p.Arg202Trp)	BEST1	May 26, 2016	MedGen:CN517202	not provided	germline	11	61956966	TCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGA
-1	431910	NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter)	ARID1B	Jun 30, 2017	MedGen:CN029606,OMIM:135900;MedGen:CN517202	Coffin-Siris syndrome 1;not provided	de novo;germline	6	156935499	ATGTCTCAGGAAGGCTATGGAACTAGATCTCAACCTCCTCTGGCCCCCGGAAAACCTAACC
1057517686	227511	NM_001170535.2(ATAD3A):c.1582C>T (p.Arg528Trp)	ATAD3A	Nov 29, 2016	MedGen:C4310677,OMIM:617183;MedGen:CN517202	Harel-Yoon syndrome;not provided	de novo;germline;unknown	1	1529299	GTCGCTCGGCTGACGGAGGGCATGTCGGGCCGGGAGATCGCTCAGCTGGCCGTGTCCTGGC
-1	425312	NM_020699.3(GATAD2B):c.709C>T (p.Gln237Ter)	GATAD2B	Jun 27, 2017	MedGen:CN517202	not provided	germline	1	153818060	TCTCGGCCTGGGGCCCAAGGGGTTGAACCTCAAAATTTGAGAACATTACAGGTATGTGACC
137852208	25822	NM_194277.2(FRMD7):c.1003C>T (p.Arg335Ter)	FRMD7	Mar 01, 2011	MedGen:C1839580,OMIM:310700	Infantile nystagmus, X-linked	germline	X	132080053	AGGAAACATTACCCATCTCAGTACCATGAACGACAGTGCAGGTCCTCACCAGACCTCCTCT
121434505	23748	NM_021922.2(FANCE):c.355C>T (p.Gln119Ter)	FANCE	Nov 01, 2000	MedGen:C3160739,OMIM:600901	Fanconi anemia, complementation group E	germline	6	35455853	CTGCCGGAAAGTGGGCTCCTCTCTGTGCTGCAGATTGCCCAGCAGGACCTAGCCCCTGACC
80356814	77772	NM_170707.3(LMNA):c.1908C>T (p.Ser636=)	LMNA	Apr 30, 2015	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:CN517202	Charcot-Marie-Tooth disease;not provided	germline	1	156138697	CCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTAC
1064794207	409508	NM_001009944.2(PKD1):c.1687C>T (p.Gln563Ter)	PKD1	Feb 22, 2017	MedGen:CN517202	not provided	germline	16	2116564	CTGCAGGGACCCCTGACGCCTCTGGCACAGCAGGACGGCCTCTCAGCCCCGCACGAGCCCG
201803986	200652	NM_138413.3(HOGA1):c.107C>T (p.Ala36Val)	HOGA1	Jun 14, 2016	MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006;MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria;Primary hyperoxaluria, type III	germline	10	97584810	CCTCAGGGGAGGGGAAGAAGGTGGACATTGCGGGTATCTACCCCCCTGTGACCACCCCCTT
758718347	229335	NM_032119.3(ADGRV1):c.7129C>T (p.Arg2377Ter)	ADGRV1	Jun 23, 2015	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90692782	AGAAGTTCCTGTGCTAATATAACTGTCAGGCGAAGGTATATGAGATAGCTACTTGCCTCTG
281875234	40157	NM_001004334.3(GPR179):c.1807C>T (p.His603Tyr)	GPR179	Feb 10, 2012	MedGen:C3281215,OMIM:614565;MedGen:CN517202	Congenital stationary night blindness, type 1E;not provided	germline	17	38334016	CGCCCCAGGTTTGTGCTGGTTCCCTCTCTGCACCCGGACTGGACCCTCCTCCTCTTCTTCT
1135401799	424660	NM_000834.3(GRIN2B):c.1966C>T (p.Gln656Ter)	GRIN2B	Jan 06, 2017	MedGen:C4015316,OMIM:616139	Epileptic encephalopathy, early infantile, 27	de novo	12	13608647	TACACTGCCAACTTAGCTGCCTTCATGATCCAAGAGGAATATGTGGACCAGGTTTCTGGCC
-1	441557	NM_000217.2(KCNA1):c.1214C>T (p.Pro405Leu)	KCNA1	Dec 22, 2016	MedGen:CN517202	not provided	germline	12	4912592	CTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTA
387907311	45870	NM_014956.4(CEP164):c.1573C>T (p.Gln525Ter)	CEP164	Oct 08, 2012	MedGen:C3541853,OMIM:614845	Nephronophthisis 15	germline	11	117381864	GCAGCCAGCCTCAGCCTGCAGCTGTCCCTCCAGAGGTAAGGATGAGGGGAAGCATCCTCAT
267607087	19843	NM_006415.3(SPTLC1):c.992C>T (p.Ser331Phe)	SPTLC1	Oct 01, 2009	MedGen:CN068845	Neuropathy, hereditary sensory and autonomic, type I, severe	germline	9	92047261	TGTCTTCATTTGTTTCTTCTCAGCGACTTTCCGGCCAGGGATACTGCTTTTCAGCTTCGTT
5030737	29391	NM_000242.2(MBL2):c.154C>T (p.Arg52Cys)	MBL2	Aug 01, 2006	MedGen:C1835140,OMIM:614372	Mannose-binding protein deficiency	germline	10	52771482	GGCATCAACGGCTTCCCAGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGGAAC
751838040	209352	NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter)	ERCC6	Sep 09, 2016	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN517202	Cockayne syndrome B;not provided	germline	10	49530797	TCCCTAAGGCAAATCAATAAAATTATTGAACAGCTTAGCCCTCAAGCTGCCACCAGCAGAG
267606645	33297	NM_013411.4(AK2):c.556C>T (p.Arg186Cys)	AK2	Jan 01, 2009	MedGen:C0272167,OMIM:267500,Orphanet:ORPHA33355,SNOMED CT:111584000	Reticular dysgenesis	germline	1	33013345	TCAGATGATAATGAAAAGGCCTTGAAAATCCGCCTGCAAGCCTACCACACTCAAACCACCC
121918568	28195	NM_000448.2(RAG1):c.940C>T (p.Arg314Trp)	RAG1	May 08, 2008	MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949	Combined cellular and humoral immune defects with granulomas	germline	11	36574244	GTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCA
121909502	33402	NM_000751.2(CHRND):c.866C>T (p.Ser289Phe)	CHRND	Jan 01, 2002	MedGen:C4225372,OMIM:616321	Myasthenic syndrome, congenital, 3a, slow-channel	germline	2	232531397	CAGTGGCCATCTCGGTGCTCCTGGCTCAGTCTGTCTTCCTGCTGCTCATCTCCAAGCGTCT
886039745	260300	NM_000444.5(PHEX):c.1204C>T (p.Gln402Ter)	PHEX	Aug 29, 2016	MedGen:CN517202	not provided	germline	X	22114488	GTAATCCAGGGGACCACAACTTTGCTGCCTCAATGGGACAAATGTGTAAACTTTATTGAAA
797045054	205768	NM_031433.3(MFRP):c.958C>T (p.Gln320Ter)	MFRP	Feb 06, 2013	MedGen:C1970236,OMIM:611040,Orphanet:ORPHA251279	Microphthalmia, isolated 5	germline	11	119344332	GGCACTTTCTCTACTCCCAGCTACCTGCAGCAGTACCCTCACCAACTGGTAAGCACAGTGC
865985297	475719	NM_000051.3(ATM):c.1537C>T (p.Gln513Ter)	ATM	Jun 09, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108251002	GAAAACTTTGGCTTACTTGGAGCCATAATTCAGGGTAGTTTAGTTGAGGTTGACAGAGAAT
120074126	18031	NM_000543.4(SMPD1):c.1267C>T (p.His423Tyr)	SMPD1	Oct 26, 2016	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006;MedGen:C0268243,OMIM:607616,Orphanet:ORPHA77293,SNOMED CT:39390005;MedGen:C0028064,SNOMED CT:58459009	Niemann-Pick disease, type A;Niemann-Pick disease, type B;Sphingomyelin/cholesterol lipidosis	germline;unknown	11	6393620	ATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGGCACT
886038797	258931	NM_000138.4(FBN1):c.7C>T (p.Arg3Ter)	FBN1	Sep 01, 2017	MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48644763	GGGAGCCGGTGGCGGCTCGGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGAT
34999973	30553	NM_000518.4(HBB):c.-140C>T	HBB	Nov 08, 2015	MedGen:C0472767,Orphanet:ORPHA231222,SNOMED CT:191189009;MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000	Beta thalassemia intermedia;Beta-plus-thalassemia;beta Thalassemia	germline;unknown	11	5227161	TCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGA
896979080	425630	NM_001135243.1(TCOF1):c.1990C>T (p.Gln664Ter)	TCOF1	Jun 06, 2017	MedGen:CN517202	not provided	germline	5	150376178	GCCAAGGTCGCCCCTGTGCGAGTGGGCACCCAAGCCCCCCGGAAAGCAGGAACTGCGACTT
121907938	19063	NM_000152.4(GAA):c.2173C>T (p.Arg725Trp)	GAA	Dec 15, 2016	MedGen:CN568813;MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease II, adult form;Glycogen storage disease, type II	germline;unknown	17	80113350	CAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGG
-1	414701	NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser)	OPA1	Apr 07, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	3	193643430	GGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATGTAAGTATATACAAAA
151173406	39496	NM_019109.4(ALG1):c.826C>T (p.Arg276Trp)	ALG1	Nov 01, 2010	MedGen:C2931005,OMIM:608540,Orphanet:ORPHA79327	Congenital disorder of glycosylation type 1K	germline	16	5078842	GGGAGCGGGCTGGTGACGCGTCTCCGTGAGCGGCCAGCCCTGCTGGTCAGCAGCACGAGCT
121965049	15203	NM_000274.3(OAT):c.955C>T (p.His319Tyr)	OAT	Oct 15, 1989	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124401785	GACATCATGCTGACCATTAAGCCAGGGGAGCATGGGTCCACATACGGTGGCAATCCACTAG
797045752	207225	NM_133433.3(NIPBL):c.2521C>T (p.Arg841Ter)	NIPBL	Dec 03, 2014	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36985701	GAGCGACATCGAGGGGATCAGTCTAGGGTTCGAAGACCAGAAACATTGAGATCCTCTAGTA
267606713	26543	NM_003159.2(CDKL5):c.863C>T (p.Thr288Ile)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	germline;unknown	X	18598499	TGAAGTTGGACCCAGCTGACAGATACTTGACAGAACAGTGTTTGAATCACCCTACATTTCA
-1	433060	NM_000118.3(ENG):c.760C>T (p.Gln254Ter)	ENG	Jul 07, 2016	MedGen:CN169374	not specified	germline	9	127825287	CCCGGGGATCTCGATGCCGTCCTCATCCTGCAGGGTCCCCCCTACGTGTCCTGGCTCATCG
369587937	131939	NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36905450	TACTCTACTGATCCCAAATTGAAAGACGCACGAGAGATTTTAAAACAAATTGAATACCGTA
398123278	98595	NM_000255.3(MUT):c.91C>T (p.Arg31Ter)	MUT	Dec 01, 2016	MedGen:C1855114,OMIM:251000;MedGen:CN517202	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	germline	6	49459376	GAATCATCAGGCTCCAGGCTCATACAGCAACGACTTCTACACCAGCAACAGCCCCTTCACC
752550849	202058	NM_014141.5(CNTNAP2):c.1447C>T (p.Arg483Ter)	CNTNAP2	Apr 27, 2017	MedGen:C1864887,OMIM:610042,Orphanet:ORPHA163681;MedGen:CN517202	Cortical dysplasia-focal epilepsy syndrome;not provided	germline	7	147300239	ACCATCGATGGAGATGAAGCATCAGCAGTTCGAACTAATAGTCCCCTTCAAGTTAAAACTG
104886194	35906	NM_000495.4(COL4A5):c.2788C>T (p.Gln930Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108622696	TTGATTTTAGGTGATGATGGCTTGCAGGGTCAGCCAGGACTTCCTGGCCCTACAGGAGAAA
1057518213	359594	NM_020732.3(ARID1B):c.1360C>T (p.Gln454Ter)	ARID1B	Nov 09, 2016	MedGen:CN517202	not provided	germline	6	156779289	AGCGCGCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGG
387906652	38750	NM_001257180.1(SLC20A2):c.1802C>T (p.Ser601Leu)	SLC20A2	Jun 27, 2013	Gene:23706,MedGen:C0393590,OMIM:213600,Orphanet:ORPHA1980,SNOMED CT:110997000	Idiopathic basal ganglia calcification 1	germline	8	42417960	CTTTGCAATGTCTGCTCCCACAGGTGGGCTCGGTGGTGGCCGTGGGCTGGATCCGCTCCCG
387906651	38743	NM_002382.4(MAX):c.97C>T (p.Arg33Ter)	MAX	Apr 20, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C3149711	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Pheochromocytoma, susceptibility to	germline	14	65093782	GACAAACGGGCTCATCATAATGCACTGGAACGAAAACGTAGGGACCACATCAAAGACAGCT
58730926	29630	NM_000422.2(KRT17):c.280C>T (p.Arg94Cys)	KRT17	Aug 15, 2016	MedGen:C1721007,OMIM:167210;Human Phenotype Ontology:HP:0012035,MedGen:C0259771,OMIM:184500,Orphanet:ORPHA841,SNOMED CT:109433009;MedGen:CN517202	Pachyonychia congenita 2;Steatocystoma multiplex;not provided	germline	17	41624230	GAGAAGGCCACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTG
201082169	481447	NM_138694.3(PKHD1):c.10174C>T (p.Gln3392Ter)	PKHD1	Nov 23, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51659952	TTTTCTTTTATAGGTACATTTAGAGAAGAACAGAAATGTACATACCAATTTCTGATGCAAG
281865494	47593	NM_004614.4(TK2):c.416C>T (p.Ala139Val)	TK2	Jan 11, 2016	MedGen:C3149750,OMIM:609560;MedGen:CN517202	Mitochondrial DNA depletion syndrome 2;not provided	germline	16	66529027	TACGGTTGATGGAGAGGTCGATTCACAGCGCAAGATACATTTTTGTAGAAAACCTGTATAG
863225309	214679	NM_000038.5(APC):c.1297C>T (p.Gln433Ter)	APC	-	MedGen:CN517202	not provided	unknown	5	112819329	TGGCAGGAAGCTCATGAACCAGGCATGGACCAGGACAAAAATCCAAGTATGTTCTCTATAG
-1	442792	NM_031844.2(HNRNPU):c.1681C>T (p.Gln561Ter)	HNRNPU	Oct 23, 2017	MedGen:CN517202	not provided	germline	1	244856790	AAACTGAACACACTGTTGCAGAGAGCCCCCCAGTGTCTTGGGAAATTTATTGAGATTGCTG
1057517856	359727	NM_003165.3(STXBP1):c.1012C>T (p.Gln338Ter)	STXBP1	Nov 17, 2016	MedGen:CN517202	not provided	germline	9	127672099	TCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCC
398122729	97231	NM_000059.3(BRCA2):c.1642C>T (p.Gln548Ter)	BRCA2	Nov 21, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32333120	AGTGGACTGGAAATACATACTGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAA
1060499630	380469	NM_000143.3(FH):c.322C>T (p.Gln108Ter)	FH	Jan 17, 2017	Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523	Multiple cutaneous leiomyomas	germline	1	241513659	ATCTTGAAGCGAGCGGCCGCTGAAGTAAACCAGGATTATGGTCTTGATCCAAAGATTGCTA
80338652	18848	NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter)	LYST	Mar 23, 2017	MedGen:CN068762;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008;MedGen:CN517202	Chediak-Higashi syndrome, adult type;Chédiak-Higashi syndrome;not provided	germline	1	235805826	CAAGAAAGTGAGACCTCACTTCAAAGTATACGACTTTTGGAAGCCCTTCTGGCCATTTGTC
397507617	65901	NM_000059.3(BRCA2):c.196C>T (p.Gln66Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32319205	AATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTT
121908544	20937	NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	SCN4A	Mar 16, 2017	MedGen:CN074266,OMIM:170500;MedGen:C1868617,OMIM:168300;MedGen:CN517202	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	germline	17	63941940	CAGAAGTACTTCGTGTCACCCACGCTGTTCCGTGTGATCCGCCTGGCGCGGATTGGGCGTG
398123168	98367	NM_000143.3(FH):c.952C>T (p.His318Tyr)	FH	Jan 17, 2017	Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Multiple cutaneous leiomyomas;not provided	germline	1	241504198	GCTCCGAATAAATTTGAAGCTCTGGCTGCTCATGACGCTCTGGTTGAGCTCAGTGGAGCCA
397514614	48428	NM_139242.3(MTFMT):c.374C>T (p.Ser125Leu)	MTFMT	Dec 03, 2012	MedGen:C3554182,OMIM:614947,Orphanet:ORPHA319524	Combined oxidative phosphorylation deficiency 15	germline	15	65026876	CTGGAGAATATGATGTTGGAGTAGTGGCTTCGTTTGGCCGACTTTTGAATGAGGCTCTTAT
63750261	96838	NM_000535.6(PMS2):c.703C>T (p.Gln235Ter)	PMS2	Mar 11, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	7	5999110	GAAAATATCGGCTCTGTGTTTGGGCAGAAGCAGGTAGTGATGGCCGGTTACTTCAACGCCT
794728130	197112	NM_004415.3(DSP):c.6850C>T (p.Arg2284Ter)	DSP	Aug 04, 2016	MedGen:CN517202	not provided	germline	6	7584112	ATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAG
72555370	15983	NM_000404.3(GLB1):c.202C>T (p.Arg68Trp)	GLB1	Jul 01, 2003	MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002	GM1 gangliosidosis type 2	germline	3	33072587	TCCCGTGTGCCCCGCTTCTACTGGAAGGACCGGCTGCTGAAGATGAAGATGGCTGGGCTGA
199472916	78116	NM_000238.3(KCNH2):c.1600C>T (p.Arg534Cys)	KCNH2	Jan 19, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	7	150951793	CTGAAGACTGCGCGGCTGCTGCGGCTGGTGCGCGTGGCGCGGAAGCTGGATCGCTACTCAG
121912979	31925	NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter)	CYP11B2	Jul 01, 2004	MedGen:C3463917,OMIM:610600	Corticosterone methyloxidase type 2 deficiency	germline	8	142914404	CCTGCTCCCTGGACAGGTGACAACTGTATCCAGAAAATCTACCAGGAACTGGCCTTCAACC
199472760	67600	NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe)	KCNQ1	Jul 06, 2011	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2583537	TTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTT
199422236	24814	NM_004187.3(KDM5C):c.2080C>T (p.Arg694Ter)	KDM5C	Feb 01, 2005	MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279	Mental retardation, syndromic, Claes-Jensen type, X-linked	germline	X	53199140	AAATGCCCTTAGGGTATCACAGAGGCTGAGCGAGAGGCTTTCGAGCTGCTCCCAGATGATG
878853949	241759	NM_000321.2(RB1):c.2053C>T (p.Gln685Ter)	RB1	Mar 06, 2016	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline	13	48459780	GAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAACTCA
1057523999	368490	NM_032861.3(SERAC1):c.493C>T (p.Gln165Ter)	SERAC1	Dec 16, 2016	MedGen:CN517202	not provided	germline	6	158144415	ACAAAAGAAAATGCTTTTTCAATAGATTACCAGTATAGGATAATTGCTCAAGCCTGTGATC
121909295	23211	NM_000337.5(SGCD):c.493C>T (p.Arg165Ter)	SGCD	May 01, 1997	MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219	Limb-girdle muscular dystrophy, type 2F	germline	5	156595042	AATGAAGTGGTAGTAGGAGCTGAAAGATTACGAGTTTTAGGTAAGGAAACTTGAATCATTT
398123121	98257	NM_000038.5(APC):c.3982C>T (p.Gln1328Ter)	APC	Mar 08, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline	5	112839576	GATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGC
541024038	178806	NM_001242896.1(DEPDC5):c.2527C>T (p.Arg843Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31843106	ATTATTATTTTTCTGTTAGGCCTTGTGTCCCGAAACCGCCCTGAGGAGGAGGACCAGTATT
786201040	182987	NM_004329.2(BMPR1A):c.1480C>T (p.Arg494Ter)	BMPR1A	Jul 01, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	86923600	ACTGAACATCTCTTTACTTTTCAGTGTCTACGAGCAGTTTTGAAGCTAATGTCAGAATGCT
199476204	47862	NM_207352.3(CYP4V2):c.1348C>T (p.Gln450Ter)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	germline	4	186209215	CAGCCTGAGCGGTTCTTCCCCGAGAATGCACAAGGGCGCCATCCATATGCCTACGTGCCCT
104894371	17575	NM_001002020.2(PUS1):c.346C>T (p.Arg116Trp)	PUS1	Jun 01, 2004	MedGen:C1838103,OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	germline	12	131932301	ATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGTGGGTGGTGGCCTTCTCT
397507525	48990	NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe)	PTPN11	Apr 03, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	12	112472968	TTCCAGACACTACAACAACAGGAGTGCAAACTTCTCTACAGCCGAAAAGAGGGTCAAAGGC
121918551	20086	NM_015665.5(AAAS):c.1288C>T (p.Leu430Phe)	AAAS	Dec 01, 2008	MedGen:C1856419	Achalasia-alacrima syndrome	germline	12	53308095	AGGGTACAGGATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTTTG
876661062	231875	NM_000059.3(BRCA2):c.4651C>T (p.Gln1551Ter)	BRCA2	Sep 03, 2015	MedGen:CN517202	not provided	germline	13	32339006	AAAGTGAAAAACCTTTTTGATGAAAAAGAGCAAGGTACTAGTGAAATCACCAGTTTTAGCC
368796923	151096	NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter)	BRIP1	Sep 25, 2017	MedGen:C1836860,OMIM:609054;MedGen:C0027672,SNOMED CT:699346009;Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001;MedGen:CN517202	Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;Neoplasm of ovary;not provided	germline;unknown	17	61799200	GAATCAGCAAGTTACAGTGTAACAGAAGTTCAGCTTCGGTTTGCTCGGGATGAACTAGATA
886041251	264162	NM_003722.4(TP63):c.1027C>T (p.Arg343Trp)	TP63	Jan 09, 2017	MedGen:CN517202	not provided	germline	3	189868614	CAAGTCCTGGGCCGACGCTGCTTTGAGGCCCGGATCTGTGCTTGCCCAGGAAGAGACAGGA
118204008	16707	NM_000785.3(CYP27B1):c.1226C>T (p.Thr409Ile)	CYP27B1	Jun 01, 2002	MedGen:C0268689,OMIM:264700,Orphanet:ORPHA289157,SNOMED CT:67049004	Vitamin D-dependent rickets, type 1	germline	12	57763798	TTTGTTTTCCTTTGCACCAGACGCTGGTCACTCTGTGTCACTATGCCACTTCAAGGGACCC
80338934	17522	NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter)	SH3TC2	May 24, 2016	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949;MedGen:CN517202	Charcot-Marie-Tooth disease, type 4C;not provided	germline	5	149010272	CGCCACAGGCATCATGCAGTGGAGTACTACCGAGTAAGTCCAAGCTGTGCAGTTTGCTGAG
-1	427639	NM_020699.3(GATAD2B):c.1429C>T (p.Gln477Ter)	GATAD2B	Jul 08, 2016	MedGen:C3554448,OMIM:615074,Orphanet:ORPHA363686	Mental retardation, autosomal dominant 18	germline	1	153812123	TGATGTGATGACTCCCAACAGGAAATTGAACAGCGATTACAGCAGCAGGCAGCCCTCTCCC
515726220	132059	NM_000406.2(GNRHR):c.842C>T (p.Thr281Ile)	GNRHR	Sep 01, 2012	Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004	Hypogonadotropic hypogonadism 7 with or without anosmia	germline	4	67740625	CATTTGCCACTTCATTTACTGTCTGCTGGACTCCCTACTATGTCCTAGGAATTTGGTATTG
-1	456069	NM_004415.3(DSP):c.3133C>T (p.Arg1045Ter)	DSP	Mar 16, 2017	MedGen:C1843896,OMIM:607450	Arrhythmogenic right ventricular cardiomyopathy, type 8	germline	6	7579323	GAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGA
1057519303	361820	NM_001128608.1(MAPKBP1):c.592C>T (p.Arg198Ter)	MAPKBP1	May 22, 2017	MedGen:CN781300,OMIM:617271	Nephronophthisis 20	germline	15	41812609	GATTGCAGCTACTTTGTCACTGCAGGCAACCGACACATCAAATTCTGGTATCTCGATGACA
121434449	22374	NM_005144.4(HR):c.1837C>T (p.Arg613Ter)	HR	Aug 01, 1999	MedGen:C1859592,OMIM:209500,Orphanet:ORPHA86819	Atrichia with papular lesions	germline	8	22123727	TGCCACCATGGACTCTTCAACACCCACTGGCGATGTCCCCGCTGCAGCCACCGGCTGTGTG
121918341	17544	NM_012431.2(SEMA3E):c.2108C>T (p.Ser703Leu)	SEMA3E	Jul 01, 2004	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	7	83367806	GGATGCCTTGTCCTGCTCAGAGTAGCATCTCGCAGGGAGCAAAACCATGGTACAAGGAATT
137852552	24911	NM_000451.3(SHOX):c.583C>T (p.Arg195Ter)	SHOX	Aug 18, 2011	MedGen:C1845118,OMIM:300582,Orphanet:ORPHA314795	Short stature, idiopathic, X-linked	germline	X	641037	TTGGGCACAGCCAACCACCTAGACGCCTGCCGAGTGGCACCCTACGTCAACATGGGAGCCT
587777743	166022	NM_001134665.2(TRMT10A):c.379C>T (p.Arg127Ter)	TRMT10A	Oct 01, 2013	MedGen:C4014997,OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	germline	4	99557386	GACATTAAGAAACTTCATAAGCAGATTCAACGATGTTACGCAGAAAACCGACGGGCACTGC
121908882	21495	NM_000369.2(TSHR):c.928C>T (p.Arg310Cys)	TSHR	Sep 19, 2013	MedGen:C3493776,OMIM:275200;MedGen:CN169374	Hypothyroidism, congenital, nongoitrous, 1;not specified	germline	14	81142986	ATGTGTAATGAGAGCAGTATGCAGAGCTTGCGCCAGAGAAAATCTGTGAATGCCTTGAATA
-1	437722	NM_000475.4(NR0B1):c.844C>T (p.Gln282Ter)	NR0B1	Sep 26, 2017	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308520	TTGCCCTGCTTCCAGGTGCTGCCCCTGGACCAGCAGCTGGTGCTGGTGCGCAACTGCTGGG
118204043	15544	NM_001010892.2(RSPH4A):c.1468C>T (p.Arg490Ter)	RSPH4A	May 27, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C2675229,OMIM:612649	Ciliary dyskinesia;Ciliary dyskinesia, primary, 11	germline	6	116628175	GAGAGTAATTATTTACGAGCACAAATTGCCCGAATTTCAGCAGGAACCCACGTCAGTCCTC
372250159	188077	NM_198994.2(TGM6):c.331C>T (p.Arg111Cys)	TGM6	Oct 21, 2014	MedGen:C3888031,OMIM:613908	Spinocerebellar ataxia 35	germline	20	2395343	CTCGCCAGCCCTCCCAGTGCTGTCATTGGCCGCTACCTGCTGAGCATCAGGCTTTCCTCTC
540217942	247511	NM_003504.4(CDC45):c.469C>T (p.Arg157Cys)	CDC45	Oct 20, 2016	MedGen:C4310738,OMIM:617063	Meier-gorlin syndrome 7	germline	22	19483988	GACAGTGATGGGTCAGAGCCTTCTGAGAAGCGCACACGGTTAGAAGAGGTGAGTTTGGGTC
119477055	19719	NM_174916.2(UBR1):c.1537C>T (p.Gln513Ter)	UBR1	Dec 01, 2005	MedGen:C0175692,OMIM:243800,SNOMED CT:75979009	Johanson-Blizzard syndrome	germline	15	43048394	CGATCTTTTTTGAAGATTCTTACCTGTATGCAGGTATGATCATTTTTCTGTACATCAGTAA
1057517195	357983	NM_000543.4(SMPD1):c.557C>T (p.Pro186Leu)	SMPD1	May 01, 2017	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006;MedGen:C0268243,OMIM:607616,Orphanet:ORPHA77293,SNOMED CT:39390005	Niemann-Pick disease, type A;Niemann-Pick disease, type B	germline;unknown	11	6391622	GGAACATCTCTTTGCCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCC
-1	481487	NM_005149.2(TBX19):c.568C>T (p.Gln190Ter)	TBX19	Oct 27, 2017	Human Phenotype Ontology:HP:0011748,MedGen:C0342388,OMIM:201400,SNOMED CT:237692001	ACTH deficiency	germline	1	168293243	ATGGTAACAAACTGCTCCTTCCCTGAAACCCAGTTCATAGCCGTGACTGCCTATCAGAATG
768922431	182452	NM_000038.5(APC):c.6709C>T (p.Arg2237Ter)	APC	Feb 20, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	5	112842303	GGCAGGACAATGATTCATATTCCAGGAGTTCGAAATAGCTCCTCAAGTACAAGTCCTGTTT
121912947	32163	NM_080680.2(COL11A2):c.3100C>T (p.Arg1034Cys)	COL11A2	Dec 01, 1999	MedGen:C1866095,OMIM:601868	Deafness, autosomal dominant 13	germline	6	33171763	GGATCAGGGGGACCCATTGGTCCGCCAGGGCGCCCAGGCCCGCAGGGTCCCCCTGGAGCAG
121917720	28820	NM_006194.3(PAX9):c.139C>T (p.Arg47Trp)	PAX9	Nov 01, 2007	MedGen:C1970291,OMIM:604625	Tooth agenesis, selective, 3	germline	14	36663031	ATCCGACCGTGTGACATCAGCCGCCAGCTACGGGTCTCGCACGGCTGCGTCAGCAAGATCC
386834152	71372	NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter)	CEP290	Feb 23, 2015	MedGen:C1857780,OMIM:610188;MedGen:C1970161,OMIM:611134	Joubert syndrome 5;Meckel syndrome type 4	unknown	12	88114488	AAAGAAATATTGCAAGCAATTAAGGAAATGCAGAAAGATCCTGATGTTAAAGGAGGAGAAA
886037684	248861	NM_177438.2(DICER1):c.2062C>T (p.R688*)	DICER1	Aug 23, 2017	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;maternal	14	95112226	TATTTTCAGGGTCCACCAATGAGCTGTGTACGATTGGCTGAAAGAGTTGTAGCTCTCATTT
281875326	38539	NM_001614.3(ACTG1):c.464C>T (p.Ser155Phe)	ACTG1	Sep 17, 2015	MedGen:C3281235,OMIM:614583;MedGen:CN517202	Baraitser-Winter Syndrome 2;not provided	germline	17	81511526	CTGGGCGCACCACTGGCATTGTCATGGACTCTGGAGACGGGGTCACCCACACGGTGCCCAT
139004722	39503	NM_004278.3(PIGL):c.652C>T (p.Gln218Ter)	PIGL	Apr 06, 2012	MedGen:C1848392,OMIM:280000,Orphanet:ORPHA3474	Zunich neuroectodermal syndrome	germline	17	16317900	CTCTTCGTGCTCAACAGCAAAGAAGTGGCACAGGCCAAGGTGAGGATTGTAAATTCCTGGA
727503057	175988	NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys)	FBN1	Jul 24, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48505106	TGTGAAACCCCTGGGATCTGCATGAATGGGCGTTGCGTCAACACTGATGGCTCCTACAGAT
13297509	15436	NM_019892.5(INPP5E):c.1543C>T (p.Arg515Trp)	INPP5E	Sep 01, 2009	MedGen:CN119531,OMIM:213300	Joubert syndrome 1	germline	9	136431830	CTGCAGCACGACCAGCTCATCCGGGAGATGCGGAAAGGTGAGGGCCTGGGGGGGCGGGCAT
80357318	46112	NM_007294.3(BRCA1):c.3937C>T (p.Gln1313Ter)	BRCA1	Oct 10, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43091594	TTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGGTTCTTCCAAAC
794728197	197747	NM_000138.4(FBN1):c.2806C>T (p.Gln936Ter)	FBN1	May 28, 2014	MedGen:CN517202	not provided	germline	15	48492509	TGTGTTAACACTAGGGGGTCATTCAAGTGTCAGTGTCCCAGTGGAATGACTTTGGATGCCA
886041621	263969	NM_020699.3(GATAD2B):c.346C>T (p.Arg116Ter)	GATAD2B	Oct 04, 2016	MedGen:CN517202	not provided	germline	1	153819725	TTTTTCCCTTTCTTGTCTAGTGAGCCAGAGCGAGGAAGGCTAACTCCCTCACCAGACATCA
-1	439708	NM_005956.3(MTHFD1):c.806C>T (p.Thr269Ile)	MTHFD1	Nov 21, 2017	MedGen:CN635903,OMIM:617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	germline	14	64424882	ACGAGGCCAAAGAGAGGGCGAGCTTCATCACTCCTGTTCCTGGCGGCGTAGGGCCCATGAC
121909125	22678	NM_003240.4(LEFTY2):c.940C>T (p.Arg314Ter)	LEFTY2	Mar 01, 1999	MedGen:C1866091	Left-right axis malformations	germline	1	225937602	CTGGCCTTCAATTGGCCATTTCTGGGGCCGCGACAGTGTATCGCCTCGGAGACTGCCTCGC
121909115	22514	NM_004425.3(ECM1):c.157C>T (p.Arg53Ter)	ECM1	Mar 01, 2003	MedGen:C0023795,OMIM:247100,Orphanet:ORPHA530,SNOMED CT:38692000	Lipid proteinosis	germline	1	150509696	TACGCAGCTCCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCCTGACTCCT
137852250	25642	NM_000133.3(F9):c.892C>T (p.Arg298Ter)	F9	Apr 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561577	GAACATACAGAGCAAAAGCGAAATGTGATTCGAATTATTCCTCACCACAACTACAATGCAG
137854560	15383	NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter)	NF1	Jul 25, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline;somatic;unknown	17	31249093	AGTTCCTCCTCAGAATTCCCCCCTCAACTTCGAAGTGTGTGCCACTGTTTATACCAGGTAT
864622615	222156	NM_130799.2(MEN1):c.1213C>T (p.Gln405Ter)	MEN1	Nov 03, 2017	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202;MedGen:CN169374	Multiple endocrine neoplasia, type 1;not provided;not specified	germline	11	64805171	CAGGGCACCCAGAGCCAAGGTTCCGCCCTCCAGGACCCTGAGTGCTTCGCCCACCTGCTGC
398123701	100040	NM_003482.3(KMT2D):c.10819C>T (p.Gln3607Ter)	KMT2D	May 09, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49033886	AACAAGCAGCAGCAACAACAGCAGCAGCAGCAGCAACAACAGCAACAGCACTCAGCTGTGC
773356478	434977	NM_000059.3(BRCA2):c.2581C>T (p.Gln861Ter)	BRCA2	May 27, 2016	MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32336936	TTCAACCAAAACACAAATCTAAGAGTAATCCAAAAAAATCAAGAAGAAACTACTTCAATTT
121909658	31282	NM_000145.3(FSHR):c.566C>T (p.Ala189Val)	FSHR	Jan 01, 2002	MedGen:C0949595,OMIM:233300	Ovarian dysgenesis 1	germline	2	48983125	AGAATGGGATTCAAGAAATACACAACTGTGCATTCAATGGAACCCAACTAGATGAGCTGTA
63749824	33196	NM_000021.3(PSEN1):c.236C>T (p.Ala79Val)	PSEN1	Jul 12, 2017	MedGen:C3151038,OMIM:613737;MedGen:C1843013,OMIM:607822;MedGen:C1843013,OMIM:607822;Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:C0236642,OMIM:172700,SNOMED CT:13092008;MedGen:CN517202	Acne inversa, familial, 3;Alzheimer disease, type 3;Alzheimer disease, type 3;Frontotemporal dementia;Pick's disease;not provided	germline	14	73170945	AAGATGAGGAGCTGACATTGAAATATGGCGCCAAGCATGTGATCATGCTCTTTGTCCCTGT
765123255	181726	NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp)	MUTYH	Sep 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3272841;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MUTYH-associated polyposis;MYH-associated polyposis;not provided	germline;unknown	1	45333436	AGCCTGCTAAGCTGGTACGACCAAGAGAAACGGGACCTACCATGGAGAAGACGGGTAGGCA
886037626	32074	NM_004004.5(GJB2):c.-260C>T	GJB2	Nov 01, 2007	MedGen:C2673759,OMIM:220290	Deafness, autosomal recessive 1A	germline	13	20193020	GAGGCCGGGCGCGCTCCGCCCGCGGCGCCGCCCCCTCCGTAACTTTCCCAGTCTCCGAGGG
121434331	16724	NM_000528.3(MAN2B1):c.2278C>T (p.Arg760Ter)	MAN2B1	Mar 02, 2017	MedGen:C0024748,OMIM:248500,Orphanet:ORPHA61,SNOMED CT:124466001	Deficiency of alpha-mannosidase	germline;unknown	19	12649418	CAGCTCACCCCCAACCCCAGGCGGGATTATCGACCCACCTGGAAACTGAACCAGACGGAGC
63750245	45223	NM_000251.2(MSH2):c.1030C>T (p.Gln344Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47416383	AAAACCCCTCAAGGACAAAGACTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGATAAGA
-1	453942	NM_002448.3(MSX1):c.661C>T (p.Gln221Ter)	MSX1	Sep 29, 2016	MedGen:C0406735,OMIM:189500,Orphanet:ORPHA2228,SNOMED CT:400036004	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	germline	4	4862892	CTCACTGAGACGCAGGTGAAGATATGGTTCCAGAACCGCCGCGCCAAGGCAAAGAGACTAC
879253926	244485	NM_014845.5(FIG4):c.1207C>T (p.Gln403Ter)	FIG4	Apr 29, 2015	MedGen:CN517202	not provided	germline	6	109760319	GAACTTGTTGCTGCTGTGACCTATCTCAACCAATTTTTGCCTCCTGAGCACACTATTGTTT
121912985	31892	NM_014208.3(DSPP):c.133C>T (p.Gln45Ter)	DSPP	Feb 01, 2001	MedGen:C0205730,OMIM:125490,SNOMED CT:234969005	Dentinogenesis imperfecta - Shield's type II	germline	4	87612186	CATCTCCTAGCAAGATCAAATGTGTCAGTACAGGTATAGGATGTAATATATTTCATTTTAT
587783392	168715	NM_018249.5(CDK5RAP2):c.5227C>T (p.Gln1743Ter)	CDK5RAP2	Mar 06, 2013	MedGen:C1858108,OMIM:604804	Primary autosomal recessive microcephaly 3	germline	9	120402886	GACTATGAGGCCCTGCTCAAACAGATCAGCCAGGGACAGAGGCTCCTTGCTGAAATGGACA
587777038	76352	NM_052867.3(NALCN):c.1924C>T (p.Gln642Ter)	NALCN	Aug 01, 2013	MedGen:C3809454,OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	germline	13	101144812	CGAATCTTTGAAAAATTTCCAAACAGACCTCAAATGGTGAAAATCTCAAAGCTTCCTTCAG
121913021	31824	NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys)	ERCC2	Mar 01, 2001	MedGen:C1866504,OMIM:601675	Trichothiodystrophy 1, photosensitive	germline	19	45352580	GAGAATGACTTTCTTACCTTCGATGCCATGCGCCACGCGGCCCAGTGTGTGGGTCGGGCCA
387907044	39853	NM_198525.2(KIF7):c.460C>T (p.Arg154Ter)	KIF7	Jun 01, 2011	Gene:46,MedGen:C0796147,OMIM:200990,Orphanet:ORPHA36	Acrocallosal syndrome, Schinzel type	germline	15	89649810	TCCTACCTGGAAGTGTACAAGGAGGAGTTCCGAGACCTGCTCGAGGTGGGCACTGCCAGCC
762521317	359154	NR_033426.1(ACAD9):n.887C>T	ACAD9	Dec 12, 2016	MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901	Acyl-CoA dehydrogenase family, member 9, deficiency of	germline	3	128896491	AGCAGAAAGCCAAATACTTGCCTAAACTGGCGTCCGGGGAGCACATTGCAGCCTTCTGCCT
886038080	248943	NM_000059.3(BRCA2):c.2905C>T (p.Gln969Ter)	BRCA2	Jun 22, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32337260	GTAAAGCAGCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATA
121434368	17123	NM_000159.3(GCDH):c.1247C>T (p.Thr416Ile)	GCDH	Nov 01, 1996	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline	19	12899471	AACCGACTCTGTATTAATCTTGTCCAGGTACACATGACATTCACGCCCTGATCCTTGGGAG
587784396	167991	NM_006516.2(SLC2A1):c.748C>T (p.Gln250Ter)	SLC2A1	Jan 10, 2014	MedGen:CN030711,OMIM:606777;MedGen:CN517202	GLUT1 deficiency syndrome 1;not provided	germline	1	42929712	GACCTGCAGGAGATGAAGGAAGAGAGTCGGCAGATGATGCGGGAGAAGAAGGTCACCATCC
58912633	29549	NM_170707.3(LMNA):c.428C>T (p.Ser143Phe)	LMNA	Dec 01, 2007	MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973;MedGen:CN517202	Congenital muscular dystrophy, LMNA-related;not provided	germline	1	156130688	GGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAG
119479064	19749	NM_006031.5(PCNT):c.8752C>T (p.Arg2918Ter)	PCNT	Feb 08, 2008	MedGen:C0432246,OMIM:210720,Orphanet:ORPHA2637	Microcephalic osteodysplastic primordial dwarfism type 2	germline	21	46435904	TCTTCTCTGTCTTTTTTCTGTTAACAACAGCGAGAATTAGAACTGCAGCGTCAGCGTGACT
768703749	214895	NM_000282.3(PCCA):c.1426C>T (p.Arg476Ter)	PCCA	Jan 01, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100309905	ATGGCAGATGCACTGGATAACTATGTTATTCGAGGTAAAAACAAAGATTTGCACTCGTTGG
-1	482257	NM_007075.3(WDR45):c.577C>T (p.Gln193Ter)	WDR45	Oct 18, 2017	MedGen:CN517202	not provided	germline	X	49075696	TCGTCTGCTCCATTCACGATCAATGCACATCAGAGTGACATAGCCTGTGTGTCTCTAAACC
587784346	169770	NM_003560.3(PLA2G6):c.2098C>T (p.Gln700Ter)	PLA2G6	Feb 08, 2013	Human Phenotype Ontology:HP:0012675,MedGen:C4021076	Iron accumulation in brain	germline	22	38113591	GTTGTCTCCCTGGGGACAGGGAGGTCCCCACAAGTGCCTGTGACCTGTGTGGATGTCTTCC
-1	427641	NM_020699.3(GATAD2B):c.535C>T (p.Arg179Ter)	GATAD2B	Dec 01, 2015	MedGen:C3554448,OMIM:615074,Orphanet:ORPHA363686	Mental retardation, autosomal dominant 18	germline	1	153818853	CTGAGGGATGAGCTACGATTGGAAGAAGCCCGACTGGTCCTGTTAAAGAAACTGAGACAGA
-1	431326	NM_012160.4(FBXL4):c.292C>T (p.Arg98Ter)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98926697	TCTGGTGACTTTACTCAGACAGCTGTGTTTCGAACTTATGGGACATGGTGGGATCAGTGTC
119473034	19211	NM_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter)	SMARCAL1	Feb 01, 2002	MedGen:C0877024,OMIM:242900,Orphanet:ORPHA1830	Schimke immunoosseous dysplasia	germline	2	216414753	GAGGAGCAGAGGAAAAAGATTGAAGAGAATCGACAAAAGGCTCTGGCCCGCAGAGCTGAGA
-1	481644	NM_004238.2(TRIP12):c.3811C>T (p.Gln1271Ter)	TRIP12	Nov 24, 2017	MedGen:CN517202	not provided	germline	2	229793078	TTCAACACACATCAATTAAAATGCCAGTTACAAAGGCATCCAGACTGTGCAAATGTGAAGC
1057524408	379411	NM_001145408.1(NONO):c.103C>T (p.Gln35Ter)	NONO	Jan 19, 2017	MedGen:CN517202	not provided	germline	X	71290740	CAGCAGCAGCACCACCAGCAGCAACAGCAGCAGCCGCCACCACCGCCAATACCTGCAAATG
74315373	20994	NM_006996.2(SLC19A2):c.484C>T (p.Arg162Ter)	SLC19A2	Jul 01, 1999	MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED CT:237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	germline	1	169477478	GGCATGTACCAGAAAGTCACAAGTTACTGTCGAAGTGCCACTTTGGTGGGCTTTACAGTGG
886037802	226173	NM_000059.3(BRCA2):c.5206C>T (p.Gln1736Ter)	BRCA2	Jun 21, 2017	MedGen:C0677776,Orphanet:ORPHA145;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast	germline	13	32339561	GAAAATGACAAAAATCATCTCTCCGAAAAACAAGATACTTATTTAAGTAACAGTAGCATGT
74315510	20717	NM_001169109.1(SCO2):c.157C>T (p.Gln53Ter)	SCO2	May 02, 2013	MedGen:C1858424,OMIM:604377,Orphanet:ORPHA1561;MedGen:C1837148,OMIM:608908	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;Myopia 6	germline	22	50524255	CCTGCAGAGACAGGTGGGCAGGGCCAGCCCCAGGGCCCTGGGCTTCGAACCCGGCTGCTGA
104894799	26523	NM_006579.2(EBP):c.187C>T (p.Arg63Ter)	EBP	Jul 01, 1999	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48523958	GCTGCGGTTGTCCCATTGGGGACTTGGCGGCGACTGTCCCTGTGCTGGTTTGCAGTGTGTG
118204049	15788	NM_015346.3(ZFYVE26):c.4312C>T (p.Arg1438Ter)	ZFYVE26	Nov 02, 2016	MedGen:C1849128,OMIM:270700,Orphanet:ORPHA100996	Spastic paraplegia 15	germline;unknown	14	67782840	CGGGCCCTTCAGCTCACTGAAGTGTACGGGCGAGATGTGGACGATTTGAGCAGCATAAAGG
374322839	438534	NM_017807.3(OSGEP):c.838C>T (p.Arg280Cys)	OSGEP	Oct 26, 2017	MedGen:CN570505,OMIM:617729	GALLOWAY-MOWAT SYNDROME 3	germline	14	20447646	CAGGAGATGATGGCAACAATGTGCCAGGAACGTGGAGCCCGGCTTTTTGCTACAGATGAGA
794728228	197690	NM_000138.4(FBN1):c.4621C>T (p.Arg1541Ter)	FBN1	Aug 01, 2017	MedGen:CN229799;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48468064	TCTGGAAATTGCTATTTGGATATTCGACCTCGAGGAGACAATGGAGATACAGCCTGCAGCA
786205680	188158	NM_014423.3(AFF4):c.772C>T (p.Arg258Trp)	AFF4	Aug 16, 2017	MedGen:C4085597,OMIM:616368,Orphanet:ORPHA444077;MedGen:CN517202	Chops syndrome;not provided	germline	5	132934293	TCAATGTTACAGAAACCCACTGCCTATGTGCGGCCCATGGACGGACAGGAGTCCATGGAAC
-1	478369	NM_000267.3(NF1):c.7702C>T (p.Gln2568Ter)	NF1	Sep 13, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31356986	GCAGAAACTCAGAGGATTTCCTCATCACAACAGCACCCACATTTACGTAAAGTTTCAGTGT
730881864	180279	NM_002485.4(NBN):c.2140C>T (p.Arg714Ter)	NBN	Oct 09, 2017	Gene:100310785,MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:91857003;Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009;MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009;MedGen:CN517202	Acute lymphoid leukemia;Aplastic anemia;Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;Microcephaly, normal intelligence and immunodeficiency;not provided	germline;unknown	8	89943297	GGAGGATCAGATCTAATAGCTCATCATGCTCGAAAGAATACAGAACTAGAAGAGTGGCTAA
193922884	136830	NM_000540.2(RYR1):c.14645C>T (p.Thr4882Met)	RYR1	Apr 19, 2017	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	germline;unknown	19	38580503	AACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACC
886041166	264409	NM_017780.3(CHD7):c.934C>T (p.Arg312Ter)	CHD7	Aug 24, 2015	MedGen:CN517202	not provided	germline	8	60742366	CCTACTATAAACAACTCAGGGCAGTATTCTCGATATCCTTACAGTAACCTAAATCAGGGAT
1085307451	414715	NM_138615.2(DHX30):c.2353C>T (p.Arg785Cys)	DHX30	Dec 18, 2017	MedGen:CN703736,OMIM:617804;MedGen:CN517202	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE;not provided	de novo;germline	3	47848246	AATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGT
886037868	247748	NM_018014.3(BCL11A):c.154C>T (p.Gln52Ter)	BCL11A	Sep 08, 2016	MedGen:C4310833,OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	germline	2	60546202	GATCATGACCTCCTCACCTGTGGGCAGTGCCAGATGAACTTCCCATTGGGGGACATTCTTA
200440128	205749	NM_012160.4(FBXL4):c.64C>T (p.Arg22Ter)	FBXL4	Nov 07, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897;MedGen:CN517202	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);not provided	germline	6	98926925	ACCATGTTTTATTATATATGCCTTCGGCGCCGAGCCAGGACAGCTACAAGAGGAGAAATGA
121918542	21624	NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp)	KCNJ13	Mar 01, 2013	MedGen:C1860405,OMIM:193230,Orphanet:ORPHA91496	Snowflake vitreoretinal degeneration	germline	2	232768790	TATTTAGGTGCTTTTGTGGCGAAGATTGCCCGGCCAAAAAATCGAGCTTTTTCAATTCGCT
894292181	478042	NM_000267.3(NF1):c.1627C>T (p.Gln543Ter)	NF1	Jun 02, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31219104	GTCCCTCAGTCACACATGCCAGAGATTGCTCAGGAAGCAATGGAGGTAAGGGGAAAATGAA
398122978	97322	NM_024876.3(COQ8B):c.532C>T (p.Arg178Trp)	COQ8B	Jun 07, 2016	MedGen:C3809965,OMIM:615573	Nephrotic syndrome, type 9	germline	19	40705140	ATCAGCCCTCAGCTGCAGCACATCTTTGAGCGGGTCCGCCAGAGCGCCGACTTCATGCCCC
72549397	21635	NM_003742.2(ABCB11):c.3169C>T (p.Arg1057Ter)	ABCB11	Dec 01, 1999	MedGen:C1866138,OMIM:601847	Progressive familial intrahepatic cholestasis 2	germline	2	168932421	TCAGCTGCACGCTTTTTTCAACTGCTGGACCGACAACCCCCAATCAGTGTATACAATACTG
1057519087	359167	NM_032793.4(MFSD2A):c.1016C>T (p.Ser339Leu)	MFSD2A	Jan 23, 2018	MedGen:C4225310,OMIM:616486	Primary autosomal recessive microcephaly 15	germline	1	39967632	CTTTAACCCCCTTTGTCCATCCACAGCTCTCGGCCACTTTAACCATTCCCATCTGGCAGTG
587776919	48091	NM_004826.3(ECEL1):c.1252C>T (p.Arg418Cys)	ECEL1	Feb 04, 2013	MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457;MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457	Arthrogryposis, distal, type 5d;Arthrogryposis, distal, type 5d	germline;inherited	2	232484156	GTCCTGAGTGAACACCTGTCCCCGCCATTCCGTGAGGCACTGCACGAGCTGGCACAGGAGA
786204777	187126	NM_005682.6(ADGRG1):c.10C>T (p.Gln4Ter)	ADGRG1	Apr 17, 2014	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline	16	57650297	GAGTGACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTTCCTGC
587779815	132794	NM_000051.3(ATM):c.1339C>T (p.Arg447Ter)	ATM	Jul 29, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108250804	ATGATACTATCTCAGCTTCTACCCCAACAGCGACATGGGGAACGTACACCATATGTGTTAC
145166656	415494	NM_000293.2(PHKB):c.307C>T (p.Arg103Ter)	PHKB	Mar 24, 2017	MedGen:CN517202	not provided	germline	16	47502992	TAGTTTCATGAGTTATCTCTCTCACCCAGGCGAATTGATGATGACAAGGGAAGGACCCATG
121918173	15933	NM_000181.3(GUSB):c.1144C>T (p.Arg382Cys)	GUSB	Jan 13, 2013	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584;MedGen:C0455988,OMIM:236750,Orphanet:ORPHA363999,SNOMED CT:276509008	Mucopolysaccharidosis type VII;Non-immune hydrops fetalis	germline	7	65974626	CTGCTTCGCTGGCTTGGTGCCAACGCTTTCCGTACCAGCCACTACCCCTATGCAGAGGAAG
1057516077	354031	NM_172107.3(KCNQ2):c.341C>T (p.Thr114Ile)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63446793	TCTCCTGCCTCGTGCTGTCTGTGTTTTCCACCATCAAGGAGTATGAGAAGAGCTCGGAGGG
864309691	213992	NM_021954.3(GJA3):c.176C>T (p.Pro59Leu)	GJA3	Apr 04, 2017	Human Phenotype Ontology:HP:0000519,MedGen:C1842324;MedGen:C1866078,OMIM:601885	Congenital cataract;Zonular pulverulent cataract 3	germline;unknown	13	20143113	AGTCAGACTTCACCTGCAACACCCAGCAGCCGGGCTGCGAGAACGTCTGCTACGACAGGGC
587778894	95146	NM_000249.3(MLH1):c.1171C>T (p.Gln391Ter)	MLH1	Jul 07, 2015	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37025769	CACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGA
794727903	195881	NM_000350.2(ABCA4):c.880C>T (p.Gln294Ter)	ABCA4	Oct 10, 2014	MedGen:C1858806,OMIM:604116;MeSH:C535804,MedGen:C1855465,OMIM:248200	Cone-rod dystrophy 3;Stargardt disease 1	germline	1	94080697	TTGCCCTAGTTTATCCATCGGCCGAGTATGCAGGACTTGCTGTGGGTGACCAGGCCCCTCA
45517119	58573	NM_000548.4(TSC2):c.658C>T (p.Gln220Ter)	TSC2	Jul 21, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2056653	AGCCGTCTCCCTCTCCACCAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACT
869312748	226241	NM_016343.3(CENPF):c.9280C>T (p.Arg3094Ter)	CENPF	Aug 25, 2017	MedGen:C1855705,OMIM:243605,OMIM:616369	Stromme syndrome	germline	1	214663729	CCCAGAGAGGGCCTGAGGGTCAAGCGAGGCCGACTTGTCCCCAGCCCCAAAGCTGGACTGG
587780088	133302	NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter)	MUTYH	Aug 23, 2017	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Carcinoma of colon;Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline	1	45334493	TTTTTGTTTCAGGCCATCATGAGGAAGCCACGAGCAGCCGTGGGAAGTGGTCACAGGAAGC
61753046	105365	NM_000350.2(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4	Jan 03, 2018	Human Phenotype Ontology:HP:0000548,MedGen:C0730290;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Cone/cone-rod dystrophy;Stargardt disease 1;not provided	germline;unknown	1	93997932	GTCTCCTCCTCCTCCCTGGCGAGGATCTTCCAGCTCCTCCTCTCCCACAAGGACAGCCTGC
-1	427093	NM_001171.5(ABCC6):c.61C>T (p.Pro21Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16221807	CCTCAGGTCTGGAACCAGACAGAGCCTGAACCTGCCGCCACCAGCCTGCTGAGCCTGTGCT
1057515421	223685	NM_005572.3(LMNA):c.1228C>T (p.Gln410Ter)	LMNA	Jan 01, 2015	MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751	Dilated cardiomyopathy 1A	germline	1	156136284	GGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCA
119489102	20463	NM_016938.4(EFEMP2):c.835C>T (p.Arg279Cys)	EFEMP2	May 12, 2011	MedGen:C3280798,OMIM:614437;MedGen:CN033664,OMIM:219100	Autosomal recessive cutis laxa type 1B;Autosomal recessive cutis laxa type IA	germline	11	65868522	TGCCCACAGGGTTACCAGCTGCTGGCCACACGCCTCTGCCAAGGTACAGGTTGCCCGGGTG
1085307472	414991	NM_005859.4(PURA):c.163C>T (p.Gln55Ter)	PURA	May 01, 2017	MedGen:CN517202	not provided	germline	5	140114344	GGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGC
794729281	199078	NM_001256850.1(TTN):c.64327C>T (p.Arg21443Ter)	TTN	May 02, 2014	MedGen:CN517202	not provided	germline	2	178577085	TCCTATATACTTGAAAAGAGAGAAACCAGCCGACTTTTGTGGACAGTGGTTTCTGAAGATA
121908026	18725	NM_000527.4(LDLR):c.530C>T (p.Ser177Leu)	LDLR	Oct 19, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841;MedGen:CN517202	Familial hypercholesterolemia;Familial hypercholesterolemias;not provided	germline;inherited;not applicable	19	11105436	GCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCT
368278927	434170	NM_000384.2(APOB):c.10700C>T (p.Thr3567Met)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21006168	AACGCATATATTCCCTCTGGGAGCACAGTACGAAAAACCACTTACAGCTAGAGGGCCTCTT
148832260	243922	NM_022042.3(SLC26A1):c.1073C>T (p.Ser358Leu)	SLC26A1	Jul 20, 2016	Human Phenotype Ontology:HP:0008672,MedGen:C1833683,OMIM:167030,SNOMED CT:444717006	Calcium oxalate urolithiasis	germline	4	989866	TGGCCCTCGTGGCTGCCGCCTTCTCCATCTCGCTGGCGGAGATGTTCGCCCGCAGTCACGG
80357377	69340	NM_007294.3(BRCA1):c.2761C>T (p.Gln921Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43092770	GGAAAGAATGAGTCTAATATCAAGCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTG
879253780	244081	NM_052965.3(TSEN15):c.346C>T (p.His116Tyr)	TSEN15	Sep 26, 2016	MedGen:C4310757,OMIM:617026	Pontocerebellar hypoplasia, type 2f	germline	1	184054856	GTGCCTACCCCCATCACTGCTTCCCTCAGCCATAACAGGTGAGCAGGTGATTTTGGTCTAA
151325121	39448	NM_173170.1(IL36RN):c.142C>T (p.Arg48Trp)	IL36RN	Sep 09, 2011	MedGen:C0343055,OMIM:614204,Orphanet:ORPHA247353	Pustular psoriasis, generalized	germline	2	113062150	ACAGGTGAAGAGATCAGCGTGGTCCCCAATCGGTGGCTGGATGCCAGCCTGTCCCCCGTCA
886039547	259812	NM_006846.3(SPINK5):c.136C>T (p.Gln46Ter)	SPINK5	Jul 19, 2016	MedGen:CN517202	not provided	germline	5	148070377	TTTATGAAAAATGGAAAACTGTTCTGTCCCCAGGATAAGAAATTTTTTCAAAGTCTTGATG
80356547	24821	NM_003334.3(UBA1):c.1731C>T (p.Asn577=)	UBA1	Sep 13, 2012	MedGen:C1844934,OMIM:301830,Orphanet:ORPHA1145	Arthrogryposis multiplex congenita, distal, X-linked	germline	X	47206103	CCTAGATGGCGTGGCCAATGCCCTGGACAACGTGGATGCCCGTGAGTTTGGAGGCGGGTGA
551472773	430596	NM_000487.5(ARSA):c.937C>T (p.Arg313Ter)	ARSA	Nov 02, 2016	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	germline	22	50626196	GGAAAGGGAACGACCTACGAGGGCGGTGTCCGAGAGCCTGCCTTGGCCTTCTGGCCAGGTC
999844958	453742	NM_172250.2(MMAA):c.1075C>T (p.Arg359Ter)	MMAA	Dec 22, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145655252	ATGCTTGCCAGTGGGGAGCTGACTGCCAAACGACGGAAGCAACAGAAAGTTTGGATGTGGA
104893976	16736	NM_182548.3(LHFPL5):c.494C>T (p.Thr165Met)	LHFPL5	Jul 01, 2006	MedGen:C1853223,OMIM:610265	Deafness, autosomal recessive 67	germline	6	35814627	GTGAGGTGCGGCGCATGTGTGGGGAGCAGACGGGCAAGTACACGCTGGGCCACTGCACCAT
886041844	264324	NM_024757.4(EHMT1):c.2704C>T (p.Arg902Ter)	EHMT1	Jun 28, 2016	MedGen:CN517202	not provided	germline	9	137800976	CTGCTGTCCAAGGGCTCTGACATCAACATCCGAGACAACGTAAGTTCGTCACACCCTCCCC
373909351	39735	NM_001023570.3(IQCB1):c.1465C>T (p.Arg489Ter)	IQCB1	Jan 01, 2011	MedGen:C1836517,OMIM:609254	Senior-Loken syndrome 5	germline	3	121772659	AGTAGGGAGCTCCATGCCCAAGCTCAAGAACGACTGCAACACTACTTTATGGGCAGGGCCC
777751303	361523	NM_000435.2(NOTCH3):c.1819C>T (p.Arg607Cys)	NOTCH3	Jul 31, 2016	MedGen:CN517202	not provided	germline	19	15187126	TGCCTAGACCTGGTGGACAAGTACCTCTGCCGCTGCCCTTCTGGGACCACAGGTGGGACCG
115352435	249203	NM_133443.3(GPT2):c.1210C>T (p.Arg404Ter)	GPT2	Sep 22, 2016	MedGen:C4225388,OMIM:616281,Orphanet:ORPHA477673	Mental retardation, autosomal recessive 49	germline	16	46922414	GCAGGAGAGGAGTCCTTTGAGCAATTCAGCCGAGTGAGTCCACTGTGATGCGTCTGCACCC
777696417	259620	NM_012134.2(LMOD1):c.1108C>T (p.Arg370Ter)	LMOD1	Sep 15, 2016	MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241	Visceral myopathy	inherited	1	201899905	GTGGTTAAGCTGTTCGCCTTGGCCAACACGCGAGCCGATGACCACGTGGCCTTTGCCATTG
118203908	15689	NM_000130.4(F5):c.2401C>T (p.Gln801Ter)	F5	Jul 15, 2001	MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED CT:4320005	Factor V deficiency	germline	1	169542689	CTTGCAGAACCTCAGAAAGCCCCTTCTCACCAACAAGCCACCACAGCTGGTTCCCCACTGA
1085307410	414389	NM_000020.2(ACVRL1):c.853C>T (p.Leu285Phe)	ACVRL1	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	12	51915305	CTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGG
121908390	20298	NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter)	CYLD	Sep 23, 2016	MedGen:C1851526,OMIM:132700;MedGen:C1275122,OMIM:601606,Orphanet:ORPHA867,SNOMED CT:403825008;MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493	Cylindromatosis, familial;Familial multiple trichoepitheliomata;Spiegler-Brooke syndrome	germline	16	50796443	TTGGACTCCAGGAGAATCCAAGGCTGTGCACGAAGACTGCTTTGTGATGCATATATGTGCA
773209126	237464	NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter)	LAMA2	Aug 25, 2017	MedGen:CN117977;MedGen:CN517202	Laminin alpha 2-related dystrophy;not provided	germline	6	129165672	GTCTGTGTCAAGGATGAGAAACATGCTCGACGAGGTGAGAGCTGCAGCAGAATGTCACTGC
587776966	59507	NM_024769.3(CLMP):c.664C>T (p.Arg222Ter)	CLMP	Jan 06, 2017	Human Phenotype Ontology:HP:0004389,MedGen:C0021847,OMIM:615237	Congenital short bowel syndrome	germline;inherited	11	123083100	AACGAAGCTGGGAAGGAAAGCTGTGTGGTGCGAGTAACTGTACAGTGTAAGCATCCAAAGA
724159964	171925	NM_198271.4(LMOD3):c.1201C>T (p.Arg401Ter)	LMOD3	Jan 05, 2015	MedGen:C4015360,OMIM:616165	Nemaline myopathy 10	germline	3	69119154	ACCAGGAATCAGGATAAACAAAGGCAGAAACGACAGGAAGAGCAAAAACAGCAGCAACTCA
606231226	31833	NM_001039350.2(DPP6):c.52-141059C>T	DPP6	Apr 01, 2009	MedGen:C2751829,OMIM:612956	Ventricular fibrillation, paroxysmal familial, 2	germline	7	154305155	GGGCCGGGAGGCGGGCGAGGAGGCAGCGCGCATCACTCGGGTCCCCTTCCTGCACCCAGCC
797045003	205021	NM_001083962.1(TCF4):c.968C>T (p.Ala323Val)	TCF4	May 19, 2014	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896	Pitt-Hopkins syndrome	de novo	18	55261488	GGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGGTGAGGAA
753160398	264637	NM_002693.2(POLG):c.2870C>T (p.Ala957Val)	POLG	May 26, 2016	MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED CT:20415001;MedGen:CN517202	Progressive sclerosing poliodystrophy;not provided	germline	15	89320877	AAATCTTCAACTACGGCCGCATCTATGGTGCTGGGCAGCCCTTTGCTGAGCGCTTACTAAT
864309547	215122	NM_001271.3(CHD2):c.4909C>T (p.Arg1637Ter)	CHD2	Mar 07, 2017	MedGen:C3809278,OMIM:615369;MedGen:CN517202	Epileptic encephalopathy, childhood-onset;not provided	germline	15	93020014	CATCAGATCATTCTTTCTTTTCCTGCAGATCGAGGAGACTGGCAGAGGGAAAGAAAGTTCA
77056664	427290	NM_000038.5(APC):c.3766C>T (p.Gln1256Ter)	APC	-	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112839360	GCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAG
727504096	177240	NM_138694.3(PKHD1):c.370C>T (p.Arg124Ter)	PKHD1	Mar 21, 2014	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52079920	CAGCTGGTAAGCAGTCCAAATCCAGGACCACGAGATAGCTGTACTTTCAAGGTGGGTTCTA
121909021	22211	NM_000492.3(CFTR):c.1046C>T (p.Ala349Val)	CFTR	Dec 08, 2016	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN169374	Cystic fibrosis;not specified	germline	7	117540276	CCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACA
745983207	247452	NM_006556.3(PMVK):c.412C>T (p.Arg138Ter)	PMVK	Jul 23, 2015	Human Phenotype Ontology:HP:0200044,MedGen:C0949506,OMIM:175800,Orphanet:ORPHA735,SNOMED CT:80432009	Porokeratosis of Mibelli	germline	1	154926384	ACGGTCCGCGTTGTAGCGTTGGAGCAGAGCCGACAGCAGCGGGGCTGGGTGTTCACGCCAG
1131691652	422506	NM_000206.2(IL2RG):c.391C>T (p.Gln131Ter)	IL2RG	Sep 23, 2015	MedGen:CN517202	not provided	germline	X	71110567	GAGATCCACCTCTACCAAACATTTGTTGTTCAGCTCCAGGACCCACGGGAACCCAGGAGAC
587784170	168243	NM_022455.4(NSD1):c.5965C>T (p.Gln1989Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177282537	GAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGC
886041466	264697	NM_001079668.2(NKX2-1):c.637C>T (p.Gln213Ter)	NKX2-1	Dec 31, 2015	MedGen:CN517202	not provided	germline	14	36517847	GTGTACGAGCTGGAGCGACGCTTCAAGCAACAGAAGTACCTGTCGGCGCCGGAGCGCGAGC
1057517683	359136	NM_207421.4(PADI6):c.970C>T (p.Gln324Ter)	PADI6	Dec 02, 2016	MedGen:C4310659,OMIM:617234	Preimplantation embryonic lethality 2	germline	1	17392121	AACTGGCTTCTCTCCCATGGCAGGGAGCTGCAGCTGCAGGGTTTTGTGGACACAGTGACGA
80357043	70032	NM_007294.3(BRCA1):c.5054C>T (p.Thr1685Ile)	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43067628	CTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAGGTATACCAAG
863225152	214206	NM_023073.3(CPLANE1):c.8167C>T (p.Gln2723Ter)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37153784	GCAATACAGAACATTGCTGAAAACATAGAACAGGATTTCCCCAAGCCTGAAATGCTAGATC
80357485	69485	NM_007294.3(BRCA1):c.3286C>T (p.Gln1096Ter)	BRCA1	Mar 09, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	germline	17	43092245	TTAGGGGTTTTGCAACCTGAGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATC
104894855	26728	NM_004484.3(GPC3):c.595C>T (p.Arg199Ter)	GPC3	Dec 05, 2016	MedGen:C0796154,OMIM:312870,Orphanet:ORPHA373,SNOMED CT:439143004;MedGen:CN517202	Simpson-Golabi-Behmel syndrome;not provided	germline	X	133753919	GATTCAGCCTTGGACATCAATGAGTGCCTCCGAGGAGCAAGACGTGACCTGAAAGTATTTG
1085307161	414088	NM_001204.6(BMPR2):c.88C>T (p.Q30*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464820	TTTATTTCCTTTATTTTAGCTTCGCAGAATCAAGAACGGCTATGTGCGTTTAAAGATCCGT
151212477	89865	NM_004572.3(PKP2):c.1489C>T (p.Arg497Ter)	PKP2	Jul 10, 2015	MedGen:C1836906,OMIM:609040	Arrhythmogenic right ventricular cardiomyopathy, type 9	germline	12	32843203	CAAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAGACCC
80358557	46375	NM_000059.3(BRCA2):c.3109C>T (p.Gln1037Ter)	BRCA2	Oct 16, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;somatic	13	32337464	AGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAA
767213728	432425	NM_001211.5(BUB1B):c.1648C>T (p.Arg550Ter)	BUB1B	Apr 30, 2014	MedGen:CN031748,OMIM:257300	Mosaic variegated aneuploidy syndrome 1	maternal	15	40202608	TCTTTTTCCAGTCCTCCTGCAGATCCCCCACGAGTTTTAGCTCAACGAAGACCCCTTGCAG
118203959	16174	NM_001142617.1(STRA6):c.1963C>T (p.Arg655Cys)	STRA6	Mar 01, 2007	MedGen:C1832661,OMIM:601186,Orphanet:ORPHA2470	Microphthalmia syndromic 9	germline	15	74180121	CTGCTGCACAACCCAACCCTGCAGGTCTTCCGCAAGACGGCCCTGTTGGGTGCCAATGGTG
797045489	208269	NM_004380.2(CREBBP):c.3436C>T (p.Gln1146Ter)	CREBBP	Mar 20, 2015	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3757982	TCCACCATCAAGCGGAAGCTGGACACAGGGCAATACCAAGAGCCCTGGCAGTACGTGGACG
45517337	58686	NM_000548.4(TSC2):c.4318C>T (p.Gln1440Ter)	TSC2	Oct 19, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2084540	TGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCC
786204498	186771	NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline;unknown	8	86743516	GAAGAAGGCTCTCACCCAAGTAATCAGTCTCAGCAAACCACAGCACAGGTATGTCCTCTAC
869320802	227573	NM_001012614.1(CTBP1):c.991C>T (p.Arg331Trp)	CTBP1	Jun 30, 2017	MedGen:CN517202	not provided	germline	4	1213028	AGCTGTTCCTTCCTCCTGCATCTCCCAGGCCGGATCCCAGACAGCCTGAAGAACTGTGTCA
886043414	270764	NM_003482.3(KMT2D):c.5104C>T (p.Arg1702Ter)	KMT2D	Mar 02, 2016	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49044284	CTCCTCATAGGCATTGGTGGTTTCATGGTGCGACAGCGGAAATCCCACACACGCACGAAAA
267607225	15303	NM_178452.5(DNAAF1):c.811C>T (p.Arg271Ter)	DNAAF1	Apr 04, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C2750790,OMIM:613193	Ciliary dyskinesia;Ciliary dyskinesia, primary, 13	germline	16	84159744	ATTCCTAATTACAGAAGGACAGTCACTGTACGACTAAAGCACTTAACATACCTGGATGATA
104894070	16225	NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu)	CYP11B1	Dec 01, 2016	Human Phenotype Ontology:HP:0008258,MedGen:C0001627,Orphanet:ORPHA418,SNOMED CT:237751000;MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007;MedGen:CN517202	Congenital adrenal hyperplasia;Deficiency of steroid 11-beta-monooxygenase;not provided	germline	8	142879146	GAGGAGCAGGCATGGTGTGTGTGATGCTGCCGGAGGACGTGGAGAAGCTGCAACAGGTGGA
398123320	98726	NM_000314.6(PTEN):c.286C>T (p.Pro96Ser)	PTEN	Oct 19, 2017	MedGen:CN517202	not provided	germline	10	87933045	GCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTG
786203115	181687	NM_001128425.1(MUTYH):c.799C>T (p.Gln267Ter)	MUTYH	Aug 29, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798	Hereditary cancer-predisposing syndrome;MYH-associated polyposis	germline	1	45332300	GCAGTGTTCCCTTCTTTTAGGGGTCTAGCCCAGCAGCTGGTGGACCCAGCCCGGCCAGGAG
751288871	198401	NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter)	PKP2	Jan 08, 2015	MedGen:CN517202	not provided	germline	12	32822487	AACAACAAAAGTATTGGATGTTTTGGCAGTCGAAGCAGGAAAGTAAAAGAGGTATATTGGG
1131692045	423703	NM_003403.4(YY1):c.1030C>T (p.Gln344Ter)	YY1	Jul 07, 2017	MedGen:CN303159,OMIM:617557	GABRIELE-DE VRIES SYNDROME	germline	14	100276616	TTTGTTGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCCCTTTC
730880377	178872	NM_173689.6(CRB2):c.1897C>T (p.Arg633Trp)	CRB2	Jan 08, 2015	MedGen:C1857423,OMIM:219730,Orphanet:ORPHA443988	Ventriculomegaly with cystic kidney disease	germline	9	123370950	CTGTGGACTCATTTCCGTTGCGACTGTGCCCGGCCCCATAGAGGTCCCACGTGCGCTGATG
794727176	191835	NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter)	NSD1	Jul 25, 2017	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002;MedGen:CN035106,OMIM:117550	Beckwith-Wiedemann syndrome;Sotos syndrome 1	germline	5	177269630	AGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGATAAGATGA
189840848	40283	NM_182476.2(COQ6):c.484C>T (p.Arg162Ter)	COQ6	Jun 07, 2016	MedGen:C3553349,OMIM:614650,Orphanet:ORPHA280406	Coenzyme Q10 deficiency, primary, 6	germline	14	73958149	TTTTTTTCCTCTCTTTTGACCTCCCCAGACCGAGTGACGGTTCTCTACAGGAGCAAAGCCA
878853009	237003	NM_025074.6(FRAS1):c.10948C>T (p.Gln3650Ter)	FRAS1	Jan 30, 2015	MedGen:CN517202	not provided	germline	4	78534471	GCATTTAGATTCCTGATACCCATTGCATTCCAGCAGACCAACCGCCCTGTGCCAGTTGTGT
797045090	205128	NM_002016.1(FLG):c.2143C>T (p.Gln715Ter)	FLG	Dec 30, 2014	MedGen:C0079584,OMIM:146700	Ichthyosis vulgaris	germline	1	152312743	GGAGAAAGACATGGATCCCGCCACCAGCTCCAGTCAGCAGACAGCTCCAGACACTCAGGCA
763939668	231695	NM_000535.6(PMS2):c.7C>T (p.Arg3Ter)	PMS2	Jan 23, 2017	MedGen:CN517202	not provided	germline	7	6009013	CGAGGCGGATCGGGTGTTGCATCCATGGAGCGAGCTGAGAGCTCGAGGTGAGCGGGGCTCG
36209567	27115	NM_000131.4(F7):c.1061C>T (p.Ala354Val)	F7	Jan 01, 2000	MedGen:C0015503,OMIM:227500,Orphanet:ORPHA327,SNOMED CT:37193007	Factor VII deficiency	germline	13	113118668	GGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCG
146591309	431681	NM_000440.2(PDE6A):c.769C>T (p.Arg257Ter)	PDE6A	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	5	149931117	AAAGTCTTTGAAGAACTTACGGACATCGAACGACAGTTCCACAAAGCCCTGTACACAGTCC
121434514	16772	NM_015634.3(KIF1BP):c.268C>T (p.Arg90Ter)	KIF1BP	Jun 15, 2013	MedGen:C1321551,OMIM:182212,SNOMED CT:83092002	Shprintzen-Goldberg syndrome	germline	10	68989100	GTGGTGGAGCCCGAGGGGCCCGTCGCCCAGCGAGCGGTGAGGCTGGCAGTCATCGAGTTCC
199473524	78188	NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met)	KCNH2	Mar 28, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not provided	germline	7	150951555	GCGGCCCCTCCATCAAGGACAAGTATGTGACGGCGCTCTACTTCACCTTCAGCAGCCTCAC
367543023	51241	NM_000057.3(BLM):c.2887C>T (p.His963Tyr)	BLM	Mar 28, 2013	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006	Bloom syndrome	not provided	15	90790712	ATTGACAAACCGGACGTGCGATTTGTGATTCATGCATCTCTCCCTAAATCTGTGGAGGGTT
-1	481643	NM_181457.3(PAX3):c.583C>T (p.Arg195Ter)	PAX3	Jan 23, 2018	MedGen:CN517202	not provided	germline	2	222294170	AAACACAGCATCGACGGCATCCTGAGCGAGCGAGGTAAGCGGTGGCGCCTTGGGCGGCGCA
606231454	171042	NM_001114748.1(TMEM240):c.239C>T (p.Thr80Met)	TMEM240	Oct 01, 2014	MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773	Spinocerebellar ataxia 21	germline	1	1535723	TGGTGGACGCCTCCGAGAACTACTTTGTGACGGACAGTGTGACCAAGCAGGAGATCGACCT
-1	432648	NM_000535.6(PMS2):c.709C>T (p.Gln237Ter)	PMS2	May 22, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary nonpolyposis colon cancer;not provided	germline	7	5997420	CTGTGAATTTTTTTTTTTTTTTTTCAGTTGCAAAGCCTCATTCCTTTTGTTCAGCTGCCCC
1060500610	395471	NM_004415.3(DSP):c.4822C>T (p.Gln1608Ter)	DSP	May 11, 2017	MedGen:C1843896,OMIM:607450	Arrhythmogenic right ventricular cardiomyopathy, type 8	germline	6	7581012	CTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGC
786203443	184781	NM_001042492.2(NF1):c.8095C>T (p.Gln2699Ter)	NF1	Nov 03, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31358604	GTGTACCATGAAGAATCCCCACCACAATACCAAACATCTTACCTGCAAAGTAAATAAATGT
118192142	76872	NM_000540.2(RYR1):c.14440C>T (p.Leu4814Phe)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38580057	CACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGC
774906736	399614	NM_014363.5(SACS):c.11707C>T (p.Arg3903Ter)	SACS	Jul 11, 2016	MedGen:C0037772	Spastic paraplegia	germline	13	23332169	GTCAAGGTGAGGAGTGATCTCGAGAATGTACGAGACCTTGCGCTTTACCTCCCAAGCCAGG
111033623	25937	NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter)	SH2D1A	May 19, 2017	MedGen:C1868674,OMIM:308240;MedGen:C0549463,Orphanet:ORPHA2442	Lymphoproliferative syndrome 1, X-linked;X-Linked Lymphoproliferative Syndrome	germline	X	124365786	CACAGGTATCACGGTTACATTTATACATACCGAGTGTCCCAGACAGAAACAGGTTCTTGGA
879255583	205712	NM_001830.3(CLCN4):c.1664C>T (p.Ala555Val)	CLCN4	Nov 15, 2016	MedGen:CN232948;MedGen:CN517202	CLCN4-related disorder;not provided	de novo;germline	X	10213768	GTCTGGAGTACATCGTGCCCCTGATGGCGGCGGCTGTGACCAGCAAGTGGGTAGCTGATGC
63750970	96529	NM_000251.2(MSH2):c.289C>T (p.Gln97Ter)	MSH2	Sep 09, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I;not provided	germline;unknown	2	47408478	TCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAG
398122741	97247	NM_000059.3(BRCA2):c.217C>T (p.Gln73Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32319226	AAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAG
727504304	176240	NM_024022.2(TMPRSS3):c.1192C>T (p.Gln398Ter)	TMPRSS3	Aug 15, 2013	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	21	42376543	GGCTACCTGACGGGTGGCGTGGACAGCTGCCAGGTACGGGGCCGCAGCGGTGGGCGAGGCC
387906855	39270	NM_005902.3(SMAD3):c.788C>T (p.Pro263Leu)	SMAD3	Jan 01, 2012	MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984	Loeys-Dietz syndrome 3	germline	15	67181370	CATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCT
267606790	27125	NM_000131.4(F7):c.628C>T (p.Gln210Ter)	F7	Aug 01, 2001	MedGen:C0015503,OMIM:227500,Orphanet:ORPHA327,SNOMED CT:37193007	Factor VII deficiency	germline	13	113116822	ATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCC
72645347	32382	NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys)	COL1A1	Dec 03, 2014	Human Phenotype Ontology:HP:0000978,MedGen:C0423798;MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;Human Phenotype Ontology:HP:0001030,MedGen:C0241181;Human Phenotype Ontology:HP:0001382,MedGen:C1844820	Bruising susceptibility;Ehlers-Danlos syndrome, classic type;Fragile skin;Joint hypermobility	germline;unknown	17	50196337	GGCCCCCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGGAGCCCCTGGCCCTGCTGTAAGTA
121907986	18926	NM_000521.3(HEXB):c.850C>T (p.Arg284Ter)	HEXB	Oct 13, 2017	MedGen:C0036161,OMIM:268800,Orphanet:ORPHA796,SNOMED CT:23849003;MedGen:C0751490;MedGen:CN517202	Sandhoff disease;Sandhoff disease, infantile;not provided	germline	5	74713584	GTGATTGAATATGCCAGATTACGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGC
132630322	26064	NM_198270.3(NHS):c.1117C>T (p.Arg373Ter)	NHS	Jul 26, 2013	MedGen:C0796085,OMIM:302350,SNOMED CT:445257004;MedGen:CN517202	Nance-Horan syndrome;not provided	germline	X	17724370	GTTCATTCACAATCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGG
118204114	16512	NM_000190.3(HMBS):c.755C>T (p.Ala252Val)	HMBS	Dec 01, 1993	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119092507	AGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGCT
281875238	38963	NM_003070.4(SMARCA2):c.3637C>T (p.Arg1213Trp)	SMARCA2	Feb 26, 2012	MedGen:C1303073,OMIM:601358,Orphanet:ORPHA3051,SNOMED CT:401046009;MedGen:CN517202	Nicolaides-Baraitser syndrome;not provided	germline	9	2116002	ATGTTTGACCAAAAGTCTTCAAGCCACGAGCGGAGGGCATTCCTGCAGGCCATCTTGGAGC
886042562	267371	NM_018849.2(ABCB4):c.2833C>T (p.Gln945Ter)	ABCB4	Sep 09, 2015	MedGen:C1865643,OMIM:602347,Orphanet:ORPHA79305	Progressive familial intrahepatic cholestasis 3	germline	7	87411984	CACATCTATGGAATTACTTTTAGTATCTCACAAGCATTTATGTATTTTTCCTATGCCGGTT
757958943	432247	NM_004628.4(XPC):c.1243C>T (p.Arg415Ter)	XPC	Jun 19, 2017	MedGen:C2752147,OMIM:278720,SNOMED CT:25784009	Xeroderma pigmentosum, group C	inherited	3	14158640	CCAGGAGACAAGCAGGAGAAGGCAACCCAGCGACGTCCGCATGGCCGGGAGCGGCGGGTGG
122445102	26771	NM_000489.4(ATRX):c.5131C>T (p.Pro1711Ser)	ATRX	Jan 01, 1996	MedGen:C4016452	Mental retardation-hypotonic facies syndrome, X-linked	germline	X	77633210	AAAGAAATATTTAACAAAGCTTTGGTTGATCCAGGTAAGGTATTAATAGACAGTGACATAA
587784199	168273	NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter)	NSD1	Aug 12, 2015	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177292149	TACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTG
-1	481799	NM_000127.2(EXT1):c.2101C>T (p.Arg701Ter)	EXT1	Dec 13, 2017	MedGen:CN517202	not provided	germline	8	117799852	CGTTGGGCTGACCCTGACCACTTTGCCCAGCGACAGAGCTGCATGAATACGTTTGCCAGCT
-1	425544	NM_015560.2(OPA1):c.2197C>T (p.Arg733Ter)	OPA1	May 09, 2017	MedGen:CN517202	not provided	germline	3	193658917	AGGGTTATTCAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATG
398122974	97318	NM_133436.3(ASNS):c.1648C>T (p.Arg550Cys)	ASNS	Oct 18, 2016	Human Phenotype Ontology:HP:0002269,MedGen:C1837249;MedGen:C3809971,OMIM:615574,Orphanet:ORPHA391376	Abnormality of neuronal migration;Asparagine synthetase deficiency	germline;maternal;unknown	7	97852297	AAGTGGATCAATGCCACTGACCCTTCTGCCCGCACGCTGACCCACTACAAGTCAGCTGTCA
398124058	100681	NM_004006.2(DMD):c.7894C>T (p.Gln2632Ter)	DMD	Oct 24, 2012	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31658123	AATCTATAGCAGTTGGCCAAAGACCTCCGCCAGTGGCAGACAAATGTAGATGTGGCAAATG
869025281	223019	NM_020771.3(HACE1):c.2242C>T (p.Arg748Ter)	HACE1	Nov 30, 2017	MedGen:C4225215,OMIM:616756,Orphanet:ORPHA464282;MedGen:CN517202	Spastic paraplegia and psychomotor retardation with or without seizures;not provided	germline	6	104750442	GCGGAGTACGTCCAGCTTGTTACTGAACTTCGAATGACAAGAGCCATTCAGCCTCAGATCA
1131692308	424521	NM_000280.4(PAX6):c.511C>T (p.Gln171Ter)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo	11	31800703	GGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTACGCAAGGTAAAACCCAAGCAGCCA
200275281	377641	NM_016941.3(DLL3):c.661C>T (p.Arg221Ter)	DLL3	Dec 16, 2016	MedGen:CN517202	not provided	germline	19	39504079	TCTGCCTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGGCTTCT
730880025	178365	NM_006000.2(TUBA4A):c.958C>T (p.Arg320Cys)	TUBA4A	Oct 22, 2014	MedGen:C4015512,OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	germline	2	219250741	GGCAAGTACATGGCCTGCTGCCTGCTGTACCGTGGAGATGTGGTGCCCAAGGATGTCAACG
72554326	103025	NM_000531.5(OTC):c.205C>T (p.Gln69Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367418	CTATCAGCAGATCTGAAATTTAGGATAAAACAGAAAGGAGAGGTATGTAACATTTTCTTTT
587777423	137085	NM_032237.4(POMK):c.325C>T (p.Gln109Ter)	POMK	Nov 20, 2014	MedGen:C3808964,OMIM:615249;MedGen:C4015184,OMIM:616094,Orphanet:ORPHA445110	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	germline	8	43122149	GAGTGGAAGGAGCACAAAGTTGCACTCTCACAGCTCACCAGCCTGGAGATGAAAGATGATT
863223980	210706	NM_000143.3(FH):c.139C>T (p.Gln47Ter)	FH	Sep 28, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple cutaneous leiomyomas;not provided	germline	1	241517310	ATAGTGTTGTATTCTTGTCTTTAGGCAAGCCAAAATTCCTTCCGGATAGAATATGATACCT
276174913	46746	NM_000059.3(BRCA2):c.8869C>T (p.Gln2957Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32379431	GAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTCA
121434418	21595	NM_001203.2(BMPR1B):c.1456C>T (p.Arg486Trp)	BMPR1B	Oct 14, 2003	Human Phenotype Ontology:HP:0009372,MedGen:C1832702,OMIM:112600,Orphanet:ORPHA93396	Type A2 brachydactyly	germline	4	95154620	CACAATCCTGCATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCCAAAATGTCAG
121908341	19752	NM_015166.3(MLC1):c.839C>T (p.Ser280Leu)	MLC1	Apr 01, 2001	MedGen:C1858854,OMIM:604004,Orphanet:ORPHA2478	Megalencephalic leukoencephalopathy with subcortical cysts 1	germline	22	50068488	CGCTGCTGTTCACAGCCTCTGGATATCTGTCATTCAGCATCATGAGAATCGTGGAGATGTT
104894191	20052	NM_021926.3(ALX4):c.418C>T (p.Gln140Ter)	ALX4	Jan 01, 2001	MedGen:C1865044,OMIM:609597	Parietal foramina 2	germline	11	44309645	AAGACGCCCCCGGACGGCAGCCTCAAACTCCAGGAAGGCAGCAGCGGCCACAGCGCGGCCT
886039756	260380	NM_024818.4(UBA5):c.181C>T (p.Arg61Ter)	UBA5	Oct 06, 2016	MedGen:C4310700,OMIM:617132	Epileptic encephalopathy, early infantile, 44	germline	3	132665842	TTTGTTTTAAGCCGCTTGATGGCATTGAAACGAATGGGAATTGTAAGCGACTATGAGGTAT
186710233	47482	NM_000532.4(PCCB):c.1534C>T (p.Arg512Cys)	PCCB	May 17, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	not provided	3	136329940	GTGGATGACATCATCCAACCTTCTTCCACACGTGCCCGAATCTGCTGTGACCTGGATGTCT
886044647	275324	NM_173591.3(OTOGL):c.3076C>T (p.Gln1026Ter)	OTOGL	Sep 05, 2016	MedGen:C3554159,OMIM:614944	Deafness, autosomal recessive 84b	germline	12	80302673	GGTTTTTTTCTGGAAAACAAATCTACCTACCAGCTTTGGAAGGCTGGTTACTATATAGTAG
1057519279	361776	NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter)	KMT2B	Dec 09, 2017	MedGen:C4310633,OMIM:617284	Dystonia 28, childhood-onset	de novo;germline	19	35720980	CGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCC
121912769	32684	NM_000494.3(COL17A1):c.3676C>T (p.Arg1226Ter)	COL17A1	Apr 25, 2017	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006;MedGen:C2608084	Adult junctional epidermolysis bullosa;Epidermolysis bullosa, junctional, localisata variant	not provided	10	104034711	CCTCCAGGACCTCCTGGTCCCCCAGGGCCTCGAGGGCCCCCGGGTGTCTCAGGAGCCCTGG
370596113	101600	NM_015506.2(MMACHC):c.481C>T (p.Arg161Ter)	MMACHC	Nov 02, 2016	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26;MedGen:CN517202	Methylmalonic acidemia with homocystinuria;not provided	germline;unknown	1	45508847	CACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGG
797044934	205229	NM_020919.3(ALS2):c.4897C>T (p.Gln1633Ter)	ALS2	May 28, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	2	201704160	CTCATTGAGGATCTAATGGACCCCTATCTTCAGCATGGGGAACAGGGTATAATGTTCACCA
780247476	208017	NM_014363.5(SACS):c.10906C>T (p.Arg3636Ter)	SACS	Feb 19, 2016	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	germline;unknown	13	23332970	GATATCCTTCTGCATCATATATTCCAAGAACGAATGGATTTGTTATCTGGAAATTTTCTGA
1060500242	402465	NM_000267.3(NF1):c.4495C>T (p.Gln1499Ter)	NF1	Aug 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31260496	CTACTCTGGAACAATCAGGAGAAAATTGGGCAGTATCTTTCCAGCAACAGGTAAGATTTCC
387906864	39324	NM_003560.3(PLA2G6):c.1354C>T (p.Gln452Ter)	PLA2G6	Oct 12, 2010	MedGen:C2751842,OMIM:612953,Orphanet:ORPHA199351	Parkinson disease 14	germline	22	38126444	GCATGCCCTGCTCTGTGCCTCACAGAACTACAGGATCTCATGCACATCTCACGGGCCCGGA
758222990	362874	NM_004448.3(ERBB2):c.2686C>T (p.Arg896Cys)	ERBB2	Oct 02, 2014	Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Neoplasm of the breast	somatic	17	39725363	ATCAAGTGGATGGCGCTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGT
114073621	426717	NM_005609.3(PYGM):c.1948C>T (p.Arg650Ter)	PYGM	Jan 12, 2016	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	unknown	11	64751346	CGCCTCCGTGTCATCTTCCTGGAGAACTACCGAGTCTCACTGGCCGAGAAAGGTGGGTGCT
886229659	263818	NM_053025.3(MYLK):c.4459C>T (p.Arg1487Ter)	MYLK	Nov 03, 2016	MedGen:C3151077,OMIM:613780	Aortic aneurysm, familial thoracic 7	germline	3	123647384	CAGGTCTTTCGACTTGTAGAAAAGAAAACTCGAAAAGTCTGGGCAGGGAAGTTCTTCAAGG
587782705	152480	NM_000546.5(TP53):c.455C>T (p.Pro152Leu)	TP53	Jul 31, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;not provided	germline;unknown	17	7675157	CTGTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCGCGTCCGCGCCATGGCCAT
80358532	46360	NM_000059.3(BRCA2):c.2818C>T (p.Gln940Ter)	BRCA2	Aug 04, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32337173	TATGGAGACACAGGTGATAAACAAGCAACCCAAGTGTCAATTAAAAAAGATTTGGTTTATG
119103268	17320	NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)	MFN2	May 18, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C4310725,OMIM:617087;MedGen:CN043576;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:C0393807,OMIM:601152,Orphanet:ORPHA90120,SNOMED CT:128203003;MedGen:C0393807,OMIM:601152,Orphanet:ORPHA90120,SNOMED CT:128203003;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A;Charcot-Marie-Tooth disease, type 2A2A;Hereditary motor and sensory neuropathy with optic atrophy;Hereditary motor and sensory neuropathy with optic atrophy;not provided	de novo;germline;unknown	1	11992689	CGGAGGCACATGAAAGTGGCTTTTTTTGGCCGGTAAGTCCTTGAGGCACCCACCCTTTCTT
963717773	440152	NM_001080463.1(DYNC2H1):c.5984C>T (p.Ala1995Val)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal;unknown	11	103177665	AATCAACGCTTTGGAGAATGTTAAGGGCTGCGCTTTGTAAAACTGGCAAAGTAGTGAAACA
61749423	105003	NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4	Jan 01, 2016	Human Phenotype Ontology:HP:0011504,MedGen:C0730330;MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Bull's eye maculopathy;Leber congenital amaurosis;Stargardt disease 1;not provided	germline;unknown	1	94060656	GTGAAGAGCATCGTCTTGGAGAAGGAGTTGCGACTGAAGGAGACCTTGAAAAATCAGGGTG
387906660	38760	NM_004333.4(BRAF):c.722C>T (p.Thr241Met)	BRAF	Sep 19, 2017	MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;MedGen:C3150971,OMIM:613707;MedGen:C0684249,OMIM:211980,SNOMED CT:187875007;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:C0041409,OMIM:163950;MedGen:C3150970,OMIM:613706;MedGen:C3150970,OMIM:613706;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Cardiofaciocutaneous syndrome 1;LEOPARD syndrome 3;Lung cancer;Noonan syndrome;Noonan syndrome 1;Noonan syndrome 1;Noonan syndrome 7;Noonan syndrome 7;Rasopathy;not provided	germline;unknown	7	140801550	TGTGATTTTTTACTTTGCAGGTACGAAAAACGTTTTTCACCTTAGCATTTTGTGACTTTTG
61750595	15336	NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter)	VWF	Dec 01, 1992	MedGen:CN517202;MedGen:C1264039,OMIM:193400,Orphanet:ORPHA166078,SNOMED CT:128106003;MedGen:C1264041,Orphanet:ORPHA166096,SNOMED CT:128108002	not provided;von Willebrand disease type 1;von Willebrand disease type 3	germline	12	6018443	ATCCTCATCCAGGACTTTGAGACGCTCCCCCGAGAGGCTCCTGACCTGGTGCTGCAGAGGT
781409616	465844	NM_004360.4(CDH1):c.283C>T (p.Gln95Ter)	CDH1	Jul 31, 2017	MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary diffuse gastric cancer	germline	16	68801789	GTCAAAAGGCCTCTACGGTTTCATAACCCACAGATCCATTTCTTGGTCTACGCCTGGGACT
1057517143	358042	NM_024649.4(BBS1):c.871C>T (p.Gln291Ter)	BBS1	Aug 12, 2016	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	unknown	11	66523496	CACCCCAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACACAAGG
397518036	57757	NM_206933.2(USH2A):c.820C>T (p.Arg274Ter)	USH2A	Jul 26, 2012	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216327619	GAGCAGTTTGTCGGAAGAATGCAAGATTTTCGATTATACCAAGTGGCACTTACAAACAGGT
-1	482267	NM_000216.3(ANOS1):c.1267C>T (p.Arg423Ter)	ANOS1	Apr 03, 2017	MedGen:CN517202	not provided	germline	X	8554039	GGAATTCAAACACAACTCCCTTTTCAAAGACGACGACCCACTCGCCCGCTGGAAGTCGGAG
63750203	96286	NM_000251.2(MSH2):c.1885C>T (p.Gln629Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47475150	TATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGC
886040991	262655	NM_017780.3(CHD7):c.4393C>T (p.Arg1465Ter)	CHD7	Feb 02, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60838115	CTTTCCAAGAAAGAAATAGAGGATCTTCTACGAAAAGGGGCCTATGGTGCACTCATGGATG
137852775	23776	NM_000182.4(HADHA):c.871C>T (p.Arg291Ter)	HADHA	Jun 26, 2017	MedGen:CN074230,OMIM:609016;MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency	germline	2	26214490	CAGGTTTACAAAAAAGTGGAAGAAAAAGTGCGAAAGCAGACTAAAGGCCTTTATCCTGCAC
63750610	95427	NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu)	MLH1	Feb 22, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED CT:403824007;MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome II;Muir-Torré syndrome;Turcot syndrome	germline	3	37048563	GATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCT
200737038	221765	NM_004820.4(CYP7B1):c.334C>T (p.Arg112Ter)	CYP7B1	Oct 05, 2016	MeSH:D030342,MedGen:C0950123;MedGen:C0037772	Inborn genetic diseases;Spastic paraplegia	germline	8	64616207	GTGATAAAAAATCATAAACAATTAAGCTTTCGAGTATTTTCTAATAAATTATTAGAGAAAG
121434518	19109	NM_015474.3(SAMHD1):c.445C>T (p.Gln149Ter)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36935093	CCTCAATTTCAACGTCTTCGATACATCAAACAGCTGGGAGGTGGTTACTATGTTTTTCCAG
-1	430886	NM_000044.4(AR):c.1846C>T (p.Arg616Cys)	AR	Apr 22, 2016	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67686087	AAATTCCGAAGGAAAAATTGTCCATCTTGTCGTCTTCGGAAATGTTATGAAGCAGGGATGA
764500338	247765	NM_013417.3(IARS):c.1252C>T (p.Arg418Ter)	IARS	Aug 31, 2016	MedGen:C4310720,OMIM:617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	germline	9	92269937	ATTTACAAAGCAGTGCCCAGCTGGTTTGTGCGAGTGGAGAACATGGTGGACCAGCTCCTAA
773774134	195413	NM_022132.4(MCCC2):c.568C>T (p.His190Tyr)	MCCC2	Jan 06, 2016	MedGen:C1859499,OMIM:210210;MedGen:CN517202	3-methylcrotonyl CoA carboxylase 2 deficiency;not provided	germline	5	71604412	CGACAAGCAGATGTGTTTCCAGATCGAGACCACTTTGGCCGTACATTCTATAATCAGGCAA
587777350	132654	NM_025132.3(WDR19):c.682C>T (p.Gln228Ter)	WDR19	Aug 01, 2013	MedGen:C3280612,OMIM:614377	Nephronophthisis 13	germline	4	39205232	GAACCAGATAACCCAGCTGATCTTGAATTTCAGCAGGACTTTGGCAACATTGTCTGCTATA
369573693	97325	NM_024876.3(COQ8B):c.958C>T (p.Arg320Trp)	COQ8B	Jun 07, 2016	MedGen:C3809965,OMIM:615573	Nephrotic syndrome, type 9	germline	19	40700387	CCAGCCGTGGTTAAGGAGCTGTGCACGACACGGGTGCTGGGCATGGAGCTGGCTGGAGGGG
199682210	165910	NM_001291303.1(FAT4):c.12851C>T (p.Ser4284Phe)	FAT4	Sep 01, 2014	MedGen:C4014939,OMIM:616006	Hennekam lymphangiectasia-lymphedema syndrome 2	germline	4	125487373	AGATTAAGAATGGCAAAGTATATTTTACATCCGATGCAGGAATTGCTGGGAAAGTGGAGAG
1057520306	380148	NM_177987.2(TUBB8):c.713C>T (p.Thr238Met)	TUBB8	Mar 02, 2017	MedGen:C4225210,OMIM:616780	Oocyte maturation defect 2	germline	10	47679	TGGTGTCTGCTACCATGAGTGGGGTCACCACGTGCCTGCGCTTCCCGGGCCAGCTGAATGC
766590491	228320	NM_206933.2(USH2A):c.8740C>T (p.Arg2914Ter)	USH2A	Apr 24, 2015	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215867112	GTACACAACAGTGTGGGTTTTACACCGAGCCGAGAAGTGACTGTGACAACGTTAGCTGGTC
879255678	247653	NM_144997.6(FLCN):c.1429C>T (p.Arg477Ter)	FLCN	Apr 04, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas;not provided;not specified	germline	17	17215188	GTGACCAGTGGGAGCCCTGTAGCTGCAGACCGAGGTGGGTGCCCCCAGGCAGAGTGTCCTT
750531880	368399	NM_000404.3(GLB1):c.902C>T (p.Ala301Val)	GLB1	Feb 02, 2017	MedGen:CN517202	not provided	germline	3	33051895	CCTCCCTCTATGATATACTTGCCCGTGGGGCGAGTGTGAACTTGTGAGTGTTCATTGCCTG
387906570	32963	NM_000039.2(APOA1):c.67C>T (p.Gln23Ter)	APOA1	Jan 01, 1994	MedGen:C0039292,OMIM:205400,Orphanet:ORPHA31150	Tangier disease	germline	11	116837134	CCCTCAGGGAGCCAGGCTCGGCATTTCTGGCAGCAAGATGAACCCCCCCAGAGCCCCTGGG
-1	424359	NM_003482.3(KMT2D):c.12304C>T (p.Gln4102Ter)	KMT2D	-	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	de novo	12	49032401	CAGCCACCTCTGAGGCTTCCAGGACAACAGCAGCAGCAAGTTAGCCTGCTCCACACAGCAG
121908643	21370	NM_000050.4(ASS1):c.53C>T (p.Ser18Leu)	ASS1	Feb 01, 1991	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130452281	TTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATCCTCGTGTGGCTGAAGGAACAAGG
864309718	215754	NM_001143826.2(MAPRE2):c.325C>T (p.Gln109Ter)	MAPRE2	Dec 03, 2015	MedGen:C4225225,OMIM:616734	Skin creases, congenital symmetric circumferential, 2	germline	18	35102003	GGACGTTTCCAGGACAACCTGGATTTTATTCAATGGTTTAAGAAATTCTATGATGCTAACT
28936701	22772	NM_000104.3(CYP1B1):c.1405C>T (p.Arg469Trp)	CYP1B1	Oct 02, 2017	Human Phenotype Ontology:HP:0000557,MedGen:C0020302,OMIM:231300,Orphanet:ORPHA98976;MedGen:CN517202	Buphthalmos;not provided	germline	2	38070949	AGAGTGATGATTTTTTCAGTGGGCAAAAGGCGGTGCATTGGCGAAGAACTTTCTAAGATGC
-1	428185	NM_032806.5(POMGNT2):c.745C>T (p.Gln249Ter)	POMGNT2	Sep 27, 2015	MedGen:C3553813,OMIM:614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	germline	3	43080687	ATCACTACCTGGTACCAGTATGGCTTTGTGCAGCCCCAGGGCCCGAAGGCCAACATCCTCG
587779067	95989	NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu)	MSH2	Jul 12, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	2	47416399	AAAGACTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGATAAGAACAGAATAGAGGAGAG
387906981	39661	NM_025132.3(WDR19):c.3307C>T (p.Arg1103Ter)	WDR19	Sep 12, 2013	MedGen:C3280616,OMIM:614378	Cranioectodermal dysplasia 4	germline	4	39268040	TTCCGCTTGTACATGGCTCTGAAGCAATACCGAGAAGCTGCCCAGACTGCCATCATCATTG
786202743	183176	NM_000051.3(ATM):c.2098C>T (p.Gln700Ter)	ATM	Mar 13, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108254013	CTGGATCGCTGTCTTCTGGGATTATCAGAACAGCTTCTGAATAATTACTCATCTGAGGTGA
397514720	75084	NM_080605.3(B3GALT6):c.200C>T (p.Pro67Leu)	B3GALT6	Jun 06, 2013	MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED CT:254100000	Spondyloepimetaphyseal dysplasia with joint laxity	germline	1	1232478	CCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCG
-1	459509	NM_000368.4(TSC1):c.2524C>T (p.Gln842Ter)	TSC1	Mar 16, 2017	MedGen:C1854465,OMIM:191100	Tuberous sclerosis 1	germline	9	132900816	TTTGGTTAGCTCTCAAACAGTGAGTCGGTCCAGCAGCAGATGGAGTTCTTGAACAGGCAGC
367683258	211950	NM_018006.4(TRMU):c.718C>T (p.Arg240Ter)	TRMU	Apr 02, 2014	MedGen:CN517202	not provided	germline	22	46352276	GACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACA
118203999	16285	NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter)	PALB2	May 12, 2015	MedGen:CN068448;MedGen:C1835817,OMIM:610832;MedGen:C0027672,SNOMED CT:699346009	Breast cancer, susceptibility to;Fanconi anemia, complementation group N;Hereditary cancer-predisposing syndrome	germline	16	23623003	GTTAGTAGCAGTGGGACCCTTTCTGATCAACAAGTAGAAGTCATGACGTTTGCAGAAGATG
777327250	259938	NM_006077.3(MICU1):c.553C>T (p.Gln185Ter)	MICU1	Oct 10, 2017	MedGen:CN517202	not provided	germline	10	72508260	TGGGACCCATACATTCTATAGAAAATTTCCCAGGAACGAGAAAAATTTGCTGATGAAGGCA
61749704	153556	NM_003159.2(CDKL5):c.539C>T (p.Pro180Leu)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	unknown	X	18584338	AGTACGTTGCCACCAGATGGTATCGGTCCCCAGAACTCTTACTTGGGTGAGTTACCGTCCC
797045016	205034	NM_022406.3(XRCC4):c.823C>T (p.Arg275Ter)	XRCC4	Jul 01, 2015	MedGen:C4225288,OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	germline	5	83258607	GATATTGCACCAAGTAGAAAAAGGAGACAGCGAATGCAAAGAAATCTTGGGACAGAACCTA
7769409	27191	NM_000500.7(CYP21A2):c.1069C>T (p.Arg357Trp)	CYP21A2	Jan 16, 2015	MedGen:C0852654,OMIM:201910;MedGen:C0852654,OMIM:201910	21-hydroxylase deficiency;21-hydroxylase deficiency	germline;unknown	6	32040535	AATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACC
200180113	24572	NM_194442.2(LBR):c.1114C>T (p.Arg372Cys)	LBR	Jun 01, 2010	MedGen:C0748397,OMIM:613471,Orphanet:ORPHA779	Reynolds syndrome	germline	1	225411411	GGAAATGCTGTCTATGATTTCTTCATTGGCCGTGAATTAAACCCTCGAATTGGTACTTTTG
587783405	170101	NM_003159.2(CDKL5):c.622C>T (p.Gln208Ter)	CDKL5	May 06, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	germline	X	18588021	GGCTGTATTCTTGGGGAGCTTAGCGATGGACAGCCTTTATTTCCTGGAGAAAGTGAAATTG
879254658	245760	NM_000527.4(LDLR):c.724C>T (p.Gln242Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11106594	GCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCA
-1	467952	NM_002878.3(RAD51D):c.343C>T (p.Gln115Ter)	RAD51D	Jul 28, 2017	MedGen:C3280345,OMIM:614291	Breast-ovarian cancer, familial 4	germline	17	35107368	ATTGTAGGAGGCCCAGGTAGCGGCAAAACTCAGGTACATGTGAGGCCAGCAGTCAGGAGGA
397509151	69806	NM_007294.3(BRCA1):c.4201C>T (p.Gln1401Ter)	BRCA1	Aug 11, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43082560	TTATCGTTTTTGAAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAA
876659654	233440	NM_005732.3(RAD50):c.3787C>T (p.Gln1263Ter)	RAD50	Jun 08, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132642212	ATAAAAAGTCGCTCACAGCAGCGTAACTTCCAGCTTCTGGTAATCACTCATGATGAAGATT
397514508	48072	NM_001567.3(INPPL1):c.1976C>T (p.Pro659Leu)	INPPL1	Feb 04, 2013	MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:254068007	Opsismodysplasia	germline;inherited	11	72233099	CCTTAGGTGAGGAGGAGATCTCCTTCCCACCCACCTACCGCTATGAGCGGGGTTCCCGGGA
-1	425631	NM_001135243.1(TCOF1):c.3031C>T (p.Gln1011Ter)	TCOF1	Jun 06, 2017	MedGen:CN517202	not provided	germline	5	150388073	AGCGAGGATGAGGACGTGATCCCCGCTACACAGTGCTTGACTCCTGGTGAGCGCAGCCCTT
797045000	204998	NM_005045.3(RELN):c.2531C>T (p.Pro844Leu)	RELN	Aug 27, 2015	MedGen:C4225327,OMIM:616436	Epilepsy, familial temporal lobe, 7	germline	7	103630111	AGTTTGGAATTCAGTTCAGATGGTGGCAACCGTATCATTCTTCCCAGAGAGAAGATGTATG
1131691540	421988	NM_005249.4(FOXG1):c.676C>T (p.Gln226Ter)	FOXG1	Aug 19, 2015	MedGen:CN517202	not provided	germline	14	28767955	CCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCA
397515546	76572	NM_002381.4(MATN3):c.359C>T (p.Thr120Met)	MATN3	Jul 25, 2013	MedGen:C1846843,OMIM:607078,Orphanet:ORPHA93311	Multiple epiphyseal dysplasia 5	not provided	2	20006175	TCGACACTCTGGACATTGGGCCAGCCGACACGCGGGTGGCAGTGGTGAACTATGCTAGCAC
121908150	19413	NM_001243133.1(NLRP3):c.778C>T (p.Arg260Trp)	NLRP3	Oct 02, 2017	MedGen:C0268390,OMIM:191900,Orphanet:ORPHA575,SNOMED CT:15123008;MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000;MedGen:CN517202	Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not provided	germline	1	247424227	AGGTTTGACTATCTGTTCTATATCCACTGTCGAGAGGTGAGCCTTGTGACACAGAGGAGCC
121434502	23402	NM_006267.4(RANBP2):c.1754C>T (p.Thr585Met)	RANBP2	Dec 04, 2014	MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619	Encephalopathy, acute, infection-induced, 3, suceptibility to	germline	2	108751993	TTGTACATTGGGCAGAATGCCTTCAGAAAACGGTGAGTTTTAAAGTATAAGCATTTTTAAA
876658694	236538	NM_005359.5(SMAD4):c.931C>T (p.Gln311Ter)	SMAD4	Mar 04, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	18	51059892	TTAGGGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGGTAAGT
132630293	26130	NM_001128834.2(PLP1):c.725C>T (p.Ala242Val)	PLP1	Feb 03, 1998	MedGen:C4016483	Pelizaeus-Merzbacher disease, connatal	germline	X	103789361	AGTTCCAAATGACCTTCCACCTGTTTATTGCTGCATTTGTGGGGGCTGCAGCTACACTGGT
1057517675	359104	NM_002936.4(RNASEH1):c.554C>T (p.Ala185Val)	RNASEH1	Jul 29, 2015	MedGen:C4225312,OMIM:616479,Orphanet:ORPHA329336	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	germline	2	3549068	GACTTCCTGGGCGGCAGACAAACCAAAGAGCGGAAATTCATGTAAGTTATCAGATACGTTT
1057519262	361735	NM_004341.4(CAD):c.1843-3C>T	CAD	Sep 08, 2017	MedGen:C4225320,OMIM:616457,Orphanet:ORPHA448010	Epileptic encephalopathy, early infantile, 50	germline;maternal	2	27226128	TGGCAGTGACCTCCATGGCACCCCCCTTCACAGGTGTGTAACATGGAGAACTTGGACCCAC
121908540	21003	NM_006996.2(SLC19A2):c.152C>T (p.Pro51Leu)	SLC19A2	Mar 15, 2004	MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED CT:237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	germline	1	169485615	GCTTCTTCGCCAGCCTCAGGCCGTCCGAGCCCTTCCTGACCCCGTACCTGCTGGGGCCGGA
587784421	170162	NM_006306.3(SMC1A):c.547C>T (p.Gln183Ter)	SMC1A	Feb 08, 2013	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	germline	X	53413300	AAGGAAATGGTGAAGGCTGAAGAGGACACACAGTTTAATTACCATCGCAAGAAAAATATTG
119461975	17973	NM_002076.3(GNS):c.1168C>T (p.Gln390Ter)	GNS	Nov 01, 2007	MedGen:C0086650,OMIM:252940,Orphanet:ORPHA79272,SNOMED CT:15892005	Mucopolysaccharidosis, MPS-III-D	germline	12	64728988	GACATTGCTGGCTACGACCTAAATAAGACACAGATGGATGGGATGTCCTTATTGCCCATTT
750896617	247574	NM_017947.3(MOCOS):c.2326C>T (p.Arg776Cys)	MOCOS	Jul 27, 2016	MedGen:C1863688,OMIM:603592,Orphanet:ORPHA93602	Xanthinuria type 2	germline	18	36260092	TTCTCACTGAAGGATCTCAGCTTGCGTTTTCGTGCCAATATTATTATCAATGGAAAAAGGG
587781269	150486	NM_007194.3(CHEK2):c.283C>T (p.Arg95Ter)	CHEK2	Aug 09, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	22	28734439	CCTGAGGAGCCTACCCCTGCCCCCTGGGCTCGATTATGGGCCCTTCAGGATGGATTTGCCA
531650682	360191	NM_000359.2(TGM1):c.427C>T (p.Arg143Cys)	TGM1	Jul 02, 2015	MedGen:CN517202	not provided	germline	14	24261776	GAGTATGAGTACGACGAGCTGATAGTGCGCCGCGGGCAGCCTTTCCATATGCTCCTCCTCC
137852526	25040	NM_000425.4(L1CAM):c.719C>T (p.Pro240Leu)	L1CAM	May 01, 2006	MedGen:C1839909,OMIM:304100,Orphanet:ORPHA1497;MedGen:C0265216,OMIM:307000,Orphanet:ORPHA2182,SNOMED CT:71779008	Corpus callosum, partial agenesis of, X-linked;X-linked hydrocephalus syndrome	germline	X	153870475	TGGCAGCCAACAGCATGATTGACAGGAAGCCGCGCCTGCTCTTCCCCACCAACTCCAGCAG
267606710	20743	NM_012120.2(CD2AP):c.1834C>T (p.Arg612Ter)	CD2AP	Nov 01, 2007	MedGen:CN068928	Focal segmental glomerulosclerosis 3	germline	6	47612492	TTTGTTTTTAGGAAAGAACTGGAAAAACTGCGAAAAGATTTGGAAGAAGAGAAGACAATGA
587779884	132948	NM_000057.3(BLM):c.2695C>T (p.Arg899Ter)	BLM	Jul 31, 2017	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006;MedGen:CN517202	Bloom syndrome;not provided	germline;unknown	15	90784953	GATTCAGGGATAATTTACTGCCTCTCCAGGCGAGAATGTGACACCATGGCTGACACGTTAC
121908436	20617	NM_014112.4(TRPS1):c.2795C>T (p.Ala932Val)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006;MedGen:C1860823,OMIM:190351	Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome type 3	germline	8	115418358	AGAATGCAAATGGCGGATATGTATGCAACGCGTGTGGCCTCTACCAGAAGCTTCACTCGGT
368817785	101434	NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter)	POMT2	Jun 25, 2014	MedGen:CN517202	not provided	germline	14	77285548	TTTGGAAACCGGATCAAAGTGCTGAGAAGTCGAATTCGCTTCATCCATTTGGTCACAGGTT
193922107	44389	NM_000053.3(ATP7B):c.3659C>T (p.Thr1220Met)	ATP7B	May 18, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline;unknown	13	51939091	AGAGCATGGGTGTGGACGTGGTTCTGATCACGGGGGACAACCGGAAGACAGCCAGAGCTAT
397516416	52674	NM_000441.1(SLC26A4):c.1336C>T (p.Gln446Ter)	SLC26A4	Mar 27, 2014	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome	germline;unknown	7	107694475	CTTGCCCTGGGGAAGCTTCTGGAACCCTTGCAGAAGGTATAACCCTGCTTCTCTGCATACC
1057518496	359455	NM_015265.3(SATB2):c.868C>T (p.Gln290Ter)	SATB2	Dec 01, 2016	MedGen:CN517202	not provided	germline	2	199349006	ACTCCAATCCGAAACCAAGTGCCCGCATTACAGCCCATCATGAGCCCTGGTCTTCTTTCTC
369607332	213810	NM_003494.3(DYSF):c.3112C>T (p.Arg1038Ter)	DYSF	Jul 18, 2017	MedGen:C2931687,Orphanet:ORPHA207073;MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:CN517202	Dysferlinopathy;Limb-girdle muscular dystrophy, type 2B;not provided	germline	2	71570679	GTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGA
121912637	20037	NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu)	TRPV4	Jun 21, 2016	MedGen:C0265281,OMIM:156530,Orphanet:ORPHA2635,SNOMED CT:22764001;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:C3159322,OMIM:184095	Metatrophic dysplasia;Skeletal dysplasia;Spondyloepiphyseal dysplasia Maroteaux type	germline;unknown	12	109784378	ACCAGAACTTGGGCATCATCAACGAGGACCCGGGCAAGAATGAGACCTACCAGTATTATGG
72650698	427042	NM_001171.5(ABCC6):c.1087C>T (p.Gln363Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16202090	GCCGTGCTGATGTTCCTCTCAGCCTGCCTGCAAACGCTGTTTGAGCAGCAGAACATGTACA
193922402	44282	NM_000352.4(ABCC8):c.4306C>T (p.Arg1436Ter)	ABCC8	Jan 29, 2015	MedGen:C3888018,Orphanet:ORPHA276525;MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Familial hyperinsulinism;Persistent hyperinsulinemic hypoglycemia of infancy	germline;unknown	11	17395611	CAGGACCCCGTCCTCTTCAGCGGCACCATCCGGTGAGCCCCACCACCCCTCAGGCCCACCC
398124598	102508	NM_183050.3(BCKDHB):c.853C>T (p.Arg285Ter)	BCKDHB	Aug 22, 2014	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline;unknown	6	80203114	TTTTTCTCTTTATTTCAGGTTCATGTGATCCGAGAGGTAGCTTCCATGGCAAAAGAAAAGC
267606928	22140	NM_001008211.1(OPTN):c.1192C>T (p.Gln398Ter)	OPTN	May 13, 2010	MedGen:C3150692,OMIM:613435	Amyotrophic lateral sclerosis type 12	germline	10	13125989	GTGCTACAGATGACACACAACAAGCTTCTTCAAGAACATAATAATGCATTGAAAACAATTG
63159160	18834	NM_000372.4(TYR):c.649C>T (p.Arg217Trp)	TYR	Jul 22, 2016	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178602	TTTCTGCCTTGGCATAGACTCTTCTTGTTGCGGTGGGAACAAGAAATCCAGAAGCTGACAG
-1	479576	NM_001128849.1(SMARCA4):c.1666C>T (p.Gln556Ter)	SMARCA4	May 30, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	10996285	AAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGG
141656719	177281	NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp)	CAPN3	Jun 27, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline;unknown	15	42401754	TTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCT
376493409	214327	NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)	CEP290	May 02, 2017	Human Phenotype Ontology:HP:0000618,MedGen:C0456909;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C1857780,OMIM:610188;MedGen:CN517202	Blindness;Global developmental delay;Joubert syndrome 5;not provided	germline;unknown	12	88083161	AAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTT
876659517	233044	NM_000038.5(APC):c.1873C>T (p.Gln625Ter)	APC	Aug 22, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	5	112835080	TTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTG
538591733	132029	NM_012338.3(TSPAN12):c.146C>T (p.Thr49Met)	TSPAN12	May 14, 2012	MedGen:C2750079,OMIM:613310	Exudative vitreoretinopathy 5	germline	7	120840030	TAAATAATGTTCTCACTTTAACTGCAGAAACGAGGTATACTTTATAATTATTGATTGAATT
151177114	422474	NM_017745.5(BCOR):c.1024C>T (p.Arg342Ter)	BCOR	May 05, 2017	MedGen:CN517202	not provided	germline	X	40074322	CTGTTGCCCCCCTCGCCTCGGCCGTCACCCCGAGTCCACCTTCCCACCCAGCCTGCTGCAG
122453121	26733	NM_004484.3(GPC3):c.1159C>T (p.Arg387Ter)	GPC3	Apr 01, 2016	MedGen:C0796154,OMIM:312870,Orphanet:ORPHA373,SNOMED CT:439143004	Simpson-Golabi-Behmel syndrome	germline	X	133699902	CATGTAGAACATGAAGAAACCTTATCCAGCCGAAGAAGGTGAGAGGTTTCTTTTTTCTTTA
375113643	106544	NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter)	CSPP1	Feb 23, 2015	MedGen:C3810212,OMIM:615636	Joubert syndrome 21	germline;unknown	8	67095440	GAGGCATATGAAGAACTTCTGAACCAAAGACGACTAGAGGAGGACAGATACCGACAACTAG
111231312	51536	NM_000138.4(FBN1):c.4615C>T (p.Arg1539Ter)	FBN1	Aug 30, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48468070	ACCCGCTCTGGAAATTGCTATTTGGATATTCGACCTCGAGGAGACAATGGAGATACAGCCT
886044763	237632	NM_000350.2(ABCA4):c.6647C>T (p.Ala2216Val)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline;unknown	1	93997943	TCCAGTTCCAGGTCTCCTCCTCCTCCCTGGCGAGGATCTTCCAGCTCCTCCTCTCCCACAA
128624224	26346	NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp)	ABCD1	Oct 15, 2013	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153740155	CCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACG
28940573	17685	NM_000391.3(TPP1):c.616C>T (p.Arg206Cys)	TPP1	Feb 01, 2000	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349	Ceroid lipofuscinosis neuronal 2	germline	11	6617046	CTGCATCTGGGGGTAACCCCCTCTGTGATCCGTAAGCGATACAACTTGACCTCACAAGACG
200056620	101351	NM_007171.3(POMT1):c.1153C>T (p.Gln385Ter)	POMT1	Dec 13, 2017	MedGen:C3150415,OMIM:613155;MedGen:CN033898,OMIM:236670;MedGen:CN517202	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;not provided	germline;paternal	9	131513243	GGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTG
121908092	19318	NM_018648.3(NOP10):c.100C>T (p.Arg34Trp)	NOP10	May 10, 2012	MedGen:C1857144,OMIM:224230	Dyskeratosis congenita autosomal recessive 1	germline	15	34342063	GGACAACAGACCTGCTCAGCCCATCCTGCTCGGTTCTCCCCAGATGACAAATACTCTCGAC
80357134	69569	NM_007294.3(BRCA1):c.34C>T (p.Gln12Ter)	BRCA1	Feb 13, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	germline;unknown	17	43124063	GATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCT
-1	426745	NM_015335.4(MED13L):c.2059C>T (p.Gln687Ter)	MED13L	May 09, 2016	MedGen:C4225208,OMIM:616789,Orphanet:ORPHA369891	Mental retardation and distinctive facial features with or without cardiac defects	de novo	12	116007590	AACAAACGGTTTAAAATCTGGCAAGACAAACAGCCCCAGTTGCAGCCACTCCACTTCCTTG
886040985	262648	NM_017780.3(CHD7):c.3205C>T (p.Arg1069Ter)	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	de novo;germline	8	60823843	AATAATAATTCAGAGTTGTTCTTATAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATG
752143061	434869	NM_024417.4(FDXR):c.916C>T (p.Arg306Cys)	FDXR	Oct 12, 2017	MedGen:CN533577,OMIM:617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	germline	17	74864234	CAGGCATCGGCCTCCCGTGCCTGGGGCCTCCGCTTTTTCCGAAGCCCCCAGCAGGTGCTGC
864321712	217263	NM_172107.3(KCNQ2):c.319C>T (p.Leu107Phe)	KCNQ2	-	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	de novo	20	63446815	GCCCCCAGGTTCCTCCTGGTTTTCTCCTGCCTCGTGCTGTCTGTGTTTTCCACCATCAAGG
63750792	95862	NM_000249.3(MLH1):c.83C>T (p.Pro28Leu)	MLH1	May 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	36993630	GCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAA
104893880	19555	NM_006005.3(WFS1):c.676C>T (p.Gln226Ter)	WFS1	Dec 01, 1998	MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009	Diabetes mellitus AND insipidus with optic atrophy AND deafness	germline	4	6291961	CCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCA
1057520738	364846	NM_006147.3(IRF6):c.454C>T (p.Gln152Ter)	IRF6	May 14, 2015	MedGen:CN517202	not provided	germline	1	209795344	GATGAAGAAGATGAGGAAGATGAGCTGGATCAGTCGCAGCACCATGTTCCCATCCAGGACA
587777105	102966	NM_001013703.3(EIF2AK4):c.3406C>T (p.Arg1136Ter)	EIF2AK4	Feb 12, 2014	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	40007064	GTGGCAAGAAATAATATATTGAATTTAAAACGGTAAGAAACAATAGGAGATTCCATTTGGT
113090017	217181	NM_005123.3(NR1H4):c.526C>T (p.Arg176Ter)	NR1H4	Dec 17, 2015	MedGen:C4310747,OMIM:617049;MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Cholestasis, progressive familial intrahepatic, 5;Progressive intrahepatic cholestasis	germline;inherited	12	100532538	GGGGGCAACTGTGTGATGGATATGTACATGCGAAGAAAGTGTCAAGAGTGTCGACTAAGGA
397514556	48260	NM_000834.4(GRIN2B):c.1658C>T (p.Pro553Leu)	GRIN2B	Aug 11, 2017	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	germline	12	13611847	TGAGCACTGCTTTTTTCCCTTCCTCAGAGCCATTCAGCGCTGACGTATGGGTGATGATGTT
1114167445	361955	NM_020971.2(SPTBN4):c.1597C>T (p.Gln533Ter)	SPTBN4	Jul 10, 2017	MedGen:CN251650,OMIM:617519;MedGen:CN517202	Myopathy, congenital, with neuropathy and deafness;not provided	germline;inherited	19	40504064	CTTGTGGGTGCCCGGCGGACACGACTTGAGCAGAACCTTGCCCTGCAGAAGGTCTTCCAGG
397507860	66781	NM_000059.3(BRCA2):c.6490C>T (p.Gln2164Ter)	BRCA2	May 26, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	13	32340845	TATCTCTCTCAATTTCAACAAGACAAACAACAGTTGGTATTAGGAACCAAAGTGTCACTTG
756998312	263941	NM_002016.1(FLG):c.4786C>T (p.Gln1596Ter)	FLG	Apr 25, 2016	MedGen:CN517202	not provided	germline	1	152310100	ACAAGCAGGCGCCAGGGATCCAGTGTTAGTCAGGACAGGGACAGTGAGGGACACTCAGAAG
61752067	24926	NM_000330.3(RS1):c.304C>T (p.Arg102Trp)	RS1	Apr 28, 2017	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:CN517202	Juvenile retinoschisis;Retinal dystrophy;not provided	germline	X	18647213	TGGTATTCTTCGTGGACTGCAAACAAGGCCCGGCTCAACAGTCAAGGCTTTGGGTAAGCAG
398124299	101610	NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter)	OPA1	Mar 15, 2017	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009;MedGen:CN517202	Dominant hereditary optic atrophy;not provided	germline	3	193647144	GCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTT
137852428	25275	NM_000132.3(F8):c.1834C>T (p.Arg612Cys)	F8	Mar 07, 2017	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008;MedGen:CN517202;MedGen:CN169374	Hereditary factor VIII deficiency disease;not provided;not specified	germline	X	154953961	CGAAGCTGGTACCTCACAGAGAATATACAACGCTTTCTCCCCAATCCAGCTGGAGTGCAGC
201785518	214881	NM_015114.2(ANKLE2):c.2344C>T (p.Gln782Ter)	ANKLE2	Sep 25, 2014	Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:C4225249,OMIM:616681	Microcephaly;Microcephaly 16, primary, autosomal recessive	germline;maternal	12	132729818	AGAGACTTGTTAGAGCCTTCTCCCGCAGACCAACTCGGGAATGGCCACAGGAGGACAGAAA
137852815	26569	NM_003688.3(CASK):c.1915C>T (p.Arg639Ter)	CASK	Jul 07, 2016	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937;MedGen:CN517202	Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided	germline	X	41553843	GACCTCATCCCCTGTAAAGAAGCTGGCATTCGATTCAGAGTTGGTGACATCATCCAGATTA
63750316	95165	NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter)	MLH1	Jul 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37025874	AAGACAGATATTTCTAGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAG
766920075	195148	NM_000426.3(LAMA2):c.7810C>T (p.Arg2604Ter)	LAMA2	Aug 05, 2014	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129486534	CGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAG
121908024	18722	NM_000527.4(LDLR):c.97C>T (p.Gln33Ter)	LDLR	Jun 04, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100252	GTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACA
121909224	22858	NM_000314.6(PTEN):c.388C>T (p.Arg130Ter)	PTEN	Oct 18, 2017	MedGen:C0265326,OMIM:153480,Orphanet:ORPHA109;MedGen:CN072330,OMIM:158350;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;MeSH:D010051,MedGen:CN236629;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202;MedGen:CN169374	Bannayan-Riley-Ruvalcaba syndrome;Cowden syndrome 1;Hereditary cancer-predisposing syndrome;Macrocephaly/autism syndrome;Neoplasm of brain;Ovarian Neoplasms;PTEN hamartoma tumor syndrome;not provided;not specified	de novo;germline;paternal;somatic;unknown	10	87933147	GCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTAT
762860653	213875	NM_004006.2(DMD):c.2368C>T (p.Gln790Ter)	DMD	Dec 31, 2013	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32501767	GCCAGCAGATCAGCTCAGGCCCTGGTGGAACAGATGGTGAATGGTAATTACACGAGTTGAT
794726727	187766	NM_001165963.1(SCN1A):c.3730C>T (p.Gln1244Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166012258	TTATAGGCATTTGAAGATATATATATTGATCAGCGAAAGACGATTAAGACGATGTTGGAAT
886041473	264795	NM_000061.2(BTK):c.469C>T (p.Gln157Ter)	BTK	Dec 23, 2015	MedGen:CN517202	not provided	germline	X	101362612	TGGATCGATGGGCAGTATCTCTGCTGCTCTCAGACAGCCAAAAATGCTATGGGCTGCCAAA
587779097	96168	NM_000251.2(MSH2):c.1528C>T (p.Gln510Ter)	MSH2	May 07, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47466675	CTTGATTATCAAGGCTTGGACCCTGGCAAACAGATTAAACTGGATTCCAGTGCACAGTTTG
111033220	52668	NM_000441.1(SLC26A4):c.1229C>T (p.Thr410Met)	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN517202	Enlarged vestibular aqueduct;Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome;not provided	germline;unknown	7	107690203	GTTTTGTGGCCACCACTGCTCTTTCCCGCACGGCCGTCCAGGAGAGCACTGGAGGAAAGAC
374950566	181683	NM_001128425.1(MUTYH):c.884C>T (p.Pro295Leu)	MUTYH	Jul 24, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline	1	45332215	TAGGGGCCACAGTGTGTACCCCACAGCGCCCACTGTGCAGCCAGTGCCCTGTGGAGAGCCT
121909554	33055	NM_000488.3(SERPINC1):c.1273C>T (p.Arg425Cys)	SERPINC1	Aug 30, 1988	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173904011	GCTGCAAGTACCGCTGTTGTGATTGCTGGCCGTTCGCTAAACCCCAACAGGGTGACTTTCA
121918127	15435	NM_019892.5(INPP5E):c.1879C>T (p.Gln627Ter)	INPP5E	Sep 01, 2009	MedGen:C1857802,OMIM:610156,Orphanet:ORPHA75858	MORM syndrome	germline	9	136429731	GGAATTAAAAGACGGATTTCGAAGGAGATTCAGAGGCAGCAAGCACTACAGAGTCAGAACT
118203537	57953	NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter)	TSC1	Mar 21, 2017	MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	germline	9	132906080	ACCACAGCAGAGGCAGAGCCTGTGGTTCCTCGAGGAGGCTTTGACTCTCCCTTTTACCGAG
137854611	24430	NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val)	SCN5A	Oct 06, 2016	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144	Brugada syndrome;Brugada syndrome 1	germline	3	38597787	TGTGCATCGTACTCAACACACTCTTCATGGCGCTGGAGCACTACAACATGACAAGTGAATT
760063197	359486	NM_000094.3(COL7A1):c.5047C>T (p.Arg1683Ter)	COL7A1	Nov 17, 2016	MedGen:CN517202	not provided	germline	3	48580586	GGAGACCAGGGAGATCCTGGAGAGGATGGACGAAATGTGAGTCCCAGCCTATGACTCCTCA
139675596	40180	NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter)	CPLANE1	Jun 14, 2017	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	germline;unknown	5	37165595	AAACTGAGGAGAAAACCAAATGTGACTTTTCGACCAGAGAATTCCATAATTAATAATGATG
1135401770	424614	NM_205768.2(ZBTB18):c.142C>T (p.Arg48Ter)	ZBTB18	Aug 01, 2017	Gene:100190984,MedGen:C2676727,OMIM:612337	Mental retardation, autosomal dominant 22	de novo	1	244053916	CTGGTGGGAGATGCCCAGTTCCGAGCGCACCGAGCTGTACTGGCTTCATGCAGCATGTATT
886041291	264914	NM_001396.3(DYRK1A):c.787C>T (p.Arg263Ter)	DYRK1A	Oct 06, 2016	MedGen:CN517202	not provided	germline	21	37490297	AATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCAC
104894908	26016	NM_000475.4(NR0B1):c.109C>T (p.Gln37Ter)	NR0B1	Jan 01, 2003	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30309255	CCTGAGGCTCCAGAGACGCGGCTGGTGGATCAGTGCTGGGGCTGTTCGTGCGGCGATGAGC
1057521145	379729	NM_020436.4(SALL4):c.2491C>T (p.Arg831Ter)	SALL4	Jan 23, 2017	MedGen:CN517202	not provided	germline	20	51789112	GGTCGGAGCAGTCTCCCTTCCACGTTTATCCGAGCCCCGCCGACCTATGTCAAGGTTGAAG
587783535	169916	NM_178151.2(DCX):c.232C>T (p.Arg78Cys)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410167	ATTGTGTACGCTGTGTCCTCTGACCGTTTTCGCAGCTTTGACGCCTTGCTGGCTGACCTGA
199422238	24816	NM_004187.3(KDM5C):c.2296C>T (p.Arg766Trp)	KDM5C	Feb 15, 2008	MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279	Mental retardation, syndromic, Claes-Jensen type, X-linked	germline	X	53198836	CTTCCTGCCATGCTGCATAAGCTGAAGGTTCGGGCTGAGTCCTTTGACACCTGGGCCAACA
387906484	25896	NM_000276.3(OCRL):c.2530C>T (p.Arg844Ter)	OCRL	Apr 01, 1993	MedGen:C0028860,OMIM:309000,Orphanet:ORPHA534,SNOMED CT:79385002	Lowe syndrome	germline	X	129589905	AATGTTTTCCGTTACTTGATGGCATTCCTTCGAGAACTCTTAAAATTCTCTGAATACAATA
869320659	227110	NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys)	IL2RG	Jan 27, 2017	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006;MedGen:CN517202	X-linked severe combined immunodeficiency;not provided	germline	X	71109309	CAGAAACGCTACACGTTTCGTGTTCGGAGCCGCTTTAACCCACTCTGTGGAAGTGCTCAGC
797045202	206608	NM_024531.4(SLC52A2):c.1088C>T (p.Pro363Leu)	SLC52A2	Mar 17, 2015	MedGen:C3553538,OMIM:614707	Brown-Vialetto-Van Laere syndrome 2	germline	8	144360676	TGATGGCGCTGGCAGTCCTGAGCCCCTGCCCGCCCCTGGTGGGCACCTCGGCGGGGGTGGT
-1	443452	NM_001904.3(CTNNB1):c.337C>T (p.Gln113Ter)	CTNNB1	Aug 29, 2017	MedGen:CN517202	not provided	germline	3	41225049	TTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCC
199473682	39960	NM_025099.5(CTC1):c.3583C>T (p.Arg1195Ter)	CTC1	Mar 09, 2012	MedGen:C2677299,OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts 1	germline	17	8228251	CCTTTCCTGACTCACGTGAACCCCAGGCTCCGATTGTCCTGCCTTTCTATCCGAGAGTCAG
199422165	34440	NM_018136.4(ASPM):c.4795C>T (p.Arg1599Ter)	ASPM	Feb 08, 2013	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197104456	TTTCAGGCACATGTAAGAAAACATCAACAACGACAGAAATATAAGAAGATGAAGAAAGCAG
-1	482046	NM_001170629.1(CHD8):c.2626C>T (p.Arg876Ter)	CHD8	Dec 26, 2017	MedGen:CN517202	not provided	germline	14	21408416	GCCCCACTGTCCACAATTACTAACTGGGAGCGAGAATTTAATACATGGACAGAAATGAACA
387906616	38623	NM_000165.4(GJA1):c.31C>T (p.Leu11Phe)	GJA1	Jun 01, 2011	MedGen:C0812437,OMIM:164200	Oculodentodigital dysplasia	germline	6	121446878	ATGGGTGACTGGAGCGCCTTAGGCAAACTCCTTGACAAGGTTCAAGCCTACTCAACTGCTG
121964971	15169	NM_000071.2(CBS):c.1397C>T (p.Ser466Leu)	CBS	Aug 01, 2008	na	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	germline	21	43058215	TGGGAATGGTGACGCTTGGGAACATGCTCTCGTCCCTGCTTGCCGGGAAGGTGCAGCCGTC
757027813	204021	NM_133499.2(SYN1):c.1264C>T (p.Arg422Ter)	SYN1	Apr 15, 2013	MedGen:CN517202	not provided	germline	X	47575169	AACAAGATGGCTCAGGCCCTGCCCCGGCAGCGACAGCGGGATGCCTCCCCTGGCAGGGGCT
1057517793	360587	NM_000444.5(PHEX):c.1180C>T (p.Gln394Ter)	PHEX	May 27, 2016	MedGen:CN517202	not provided	germline	X	22114464	ATCTGGATCAATTATCTCCCACAGGTAATCCAGGGGACCACAACTTTGCTGCCTCAATGGG
878854224	243225	NM_001128849.1(SMARCA4):c.4339C>T (p.Arg1447Ter)	SMARCA4	Feb 26, 2016	MedGen:C2750074,OMIM:613325	Rhabdoid tumor predisposition syndrome 2	germline	19	11041379	CGGCAGAAGAAATCATCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCACCCCGA
750586158	182646	NM_005732.3(RAD50):c.3598C>T (p.Arg1200Ter)	RAD50	Jun 27, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132638203	AAGGGAGACACAGCCTTGGATATGCGAGGACGATGCAGTGCTGGACAAAAGGCAGGTATCT
796053373	202328	NM_003165.3(STXBP1):c.1651C>T (p.Arg551Cys)	STXBP1	Jan 18, 2017	MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy 4;not provided	germline	9	127682509	ATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACG
797045165	205686	NM_006767.3(LZTR1):c.850C>T (p.Arg284Cys)	LZTR1	Jun 01, 2015	MedGen:C4225280,OMIM:616564	Noonan syndrome 10	germline	22	20991686	CTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACC
9332960	428054	NM_000348.3(SRD5A2):c.16C>T (p.Gln6Ter)	SRD5A2	Sep 22, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000;MedGen:CN517202	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;not provided	germline	2	31580885	GAGGAACACGGCGCGATGCAGGTTCAGTGCCAGCAGAGCCCAGTGCTGGCAGGCAGCGCCA
137853003	214844	NM_001142772.1(PCDH15):c.400C>T (p.Arg134Ter)	PCDH15	Feb 26, 2016	MedGen:C1865885,OMIM:602083	Usher syndrome, type 1F	inherited;unknown	10	54369194	AAAGTGGGCACTATTATCTACCATGAAGTGCGAATAGTGGTGAGAGACAGGAATGACAACT
121434316	16853	NM_152594.2(SPRED1):c.637C>T (p.Gln213Ter)	SPRED1	Jul 01, 2009	MedGen:C1969623,OMIM:611431,Orphanet:ORPHA137605	Legius syndrome	germline	15	38349476	GACATTCAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGGAAGCC
119478057	19811	NM_017429.2(BCO1):c.509C>T (p.Thr170Met)	BCO1	Nov 01, 2007	MedGen:C2676023,OMIM:115300	Hypercarotenemia and vitamin a deficiency, autosomal dominant	germline	16	81264677	ATCGTAAATACGTGGCGGTAAATCTGGCAACGTCACATCCCCATTATGATGAGGCTGGAAA
886041902	265036	NM_006306.3(SMC1A):c.1192C>T (p.Arg398Ter)	SMC1A	Jul 21, 2016	MedGen:CN517202	not provided	germline	X	53411823	ACCCTGGCCCAGGAGCTGGAGAAATTCAATCGAGACCAGAAAGCTGACCAGGACCGTCTGG
398124042	100658	NM_004006.2(DMD):c.7189C>T (p.Gln2397Ter)	DMD	Sep 12, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31836729	CAGCATTTGTACAAGGAAAAACCAGCCACTCAGCCAGTGAAGGTAATGAAGCAACCTCTAG
118204028	16531	NM_001039141.2(TRIOBP):c.889C>T (p.Gln297Ter)	TRIOBP	Jan 01, 2006	MedGen:C1853276,OMIM:609823	Deafness, autosomal recessive 28	germline	22	37723445	AGGGACACCTCCAGGGCCTCATCCACCCAACAGGAAATCTCCAGGGCCTCATCCACCCAAC
917070773	404603	NM_000271.4(NPC1):c.2713C>T (p.Gln905Ter)	NPC1	Sep 16, 2016	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23539893	GAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCA
386833851	71045	NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter)	RECQL4	May 22, 2017	MedGen:C0265308,OMIM:218600,Orphanet:ORPHA1225,SNOMED CT:77608001;MedGen:C1849453,OMIM:266280,Orphanet:ORPHA3021;MedGen:C0032339,OMIM:268400,Orphanet:ORPHA2909,SNOMED CT:69093006	Baller-Gerold syndrome;Rapadilino syndrome;Rothmund-Thomson syndrome	germline	8	144513126	ATGAAAGTTGCCCTGCAGGGCGAAGACCTGCGAGAGCTGCGCAGACATGTGCACGCCGACA
387907159	40236	NM_058216.2(RAD51C):c.397C>T (p.Gln133Ter)	RAD51C	Jul 31, 2017	MedGen:C3150659,OMIM:613399;MedGen:C3150653,OMIM:613390;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	58695182	ATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATGGTAAAATAAAGTGTTCTCCTTTT
786204017	185782	NM_005957.4(MTHFR):c.760C>T (p.Pro254Ser)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11796226	ACCGACATGGGCATCACTTGCCCCATCGTCCCCGGGATCTTTCCCATCCAGGTGAGGGGCC
886038963	258920	NM_000138.4(FBN1):c.1807C>T (p.Gln603Ter)	FBN1	Nov 21, 2014	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48508612	AGTTTTAAATGTATTTGCAAACCTGGATTCCAGCTGGCATCAGATGGACGTTATTGCAAAG
372781135	190179	NM_013328.3(PYCR2):c.355C>T (p.Arg119Cys)	PYCR2	May 07, 2015	MedGen:C4225332,OMIM:616420	Leukodystrophy, hypomyelinating, 10	germline	1	225922043	ATGGCATTCCAGCCAGCCCCCAAAGTGATTCGCTGCATGACCAACACACCTGTGGTAGTGC
869025571	224674	NM_014159.6(SETD2):c.820C>T (p.Gln274Ter)	SETD2	Oct 21, 2016	MedGen:C4085873,OMIM:616831	Luscan-lumish syndrome	germline	3	47123816	GAAGAACACGTAACTCAAATATTGAATGAGCAAGCAGATATTTCCTCAAAAAAAGAAGATT
122456134	26654	NM_005183.3(CACNA1F):c.2905C>T (p.Arg969Ter)	CACNA1F	Jan 01, 2015	Human Phenotype Ontology:HP:0007642,MedGen:C0339535,Orphanet:ORPHA215,SNOMED CT:232061009;MedGen:C1848172,OMIM:300071	Congenital stationary night blindness;Congenital stationary night blindness, type 2A	germline;unknown	X	49218511	TCCAGCGCCATCTCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAG
267608688	40119	NM_018082.5(POLR3B):c.1648C>T (p.Arg550Ter)	POLR3B	Aug 02, 2012	MedGen:C3280644,OMIM:614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	germline	12	106433739	TTTTGCCTAGGTAACATCTTAGGTGTCATTCGAGACCACAAAAAGCTAGTGAATACATTTC
1064796669	407829	NM_001005463.2(EBF3):c.907C>T (p.Arg303Ter)	EBF3	Mar 03, 2017	MedGen:CN517202	not provided	germline	10	129867246	TTTTTGTAGCTGATAACTCCCCATGCCATCCGAGTCCAGACCCCGCCGAGGCACATTCCTG
121918547	20078	NM_015665.5(AAAS):c.934C>T (p.Arg312Ter)	AAAS	Nov 01, 2000	MedGen:C0271742,OMIM:231550,Orphanet:ORPHA869,SNOMED CT:45414006	Glucocorticoid deficiency with achalasia	germline	12	53309158	ATCCTGGCTACCACTCCTTCAGCTGTCTTTCGGTGAGTGGGACAAGGATGGAGGGAGGGCA
111033297	53892	NM_004004.5(GJB2):c.169C>T (p.Gln57Ter)	GJB2	May 18, 2017	MedGen:C2673759,OMIM:220290;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN169374	Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;not specified	germline	13	20189413	GAGCAGGCCGACTTTGTCTGCAACACCCTGCAGCCAGGCTGCAAGAACGTGTGCTACGATC
397515337	15099	NM_006642.4(SDCCAG8):c.740+356C>T	SDCCAG8	Jun 26, 2017	MedGen:C3889474,OMIM:615993	Bardet-Biedl syndrome 16	germline	1	243305133	GAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGG
730881422	179951	NM_000465.3(BARD1):c.1996C>T (p.Gln666Ter)	BARD1	Jul 27, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	2	214730416	GGTCCACGCAGAAGCAGGCTCAACAGAGAACAGCTGGTATTTTTCTTTTAATACAACTTTC
1057517681	359133	NM_207421.4(PADI6):c.1141C>T (p.Gln381Ter)	PADI6	Dec 02, 2016	MedGen:C4310659,OMIM:617234	Preimplantation embryonic lethality 2	germline	1	17394041	AAGACAACGTCCTTGATCCTCGACACACCTCAGGCCGCCGATCTCGATGAGTTCCCCATGA
104894189	22285	NM_033022.3(RPS24):c.46C>T (p.Arg16Ter)	RPS24	Jun 25, 2009	MedGen:C1857719,OMIM:610629	Diamond-Blackfan anemia 3	germline	10	78035394	ACTATCCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGTAAGGA
774847203	443651	NM_000038.5(APC):c.4831C>T (p.Gln1611Ter)	APC	May 16, 2017	MedGen:CN517202	not provided	germline	5	112840425	TTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCAC
200712760	405037	NM_206933.2(USH2A):c.8167C>T (p.Arg2723Ter)	USH2A	Sep 18, 2017	MedGen:CN517202	not provided	germline	1	215888482	GCTTGGGTAGAAGTTACCACAAGACCCTCACGACCTGCTGGGGTGCAGCCACCTGTGGTGA
769523686	475884	NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter)	ATM	Sep 22, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108332894	GCAAACTTAGATGCCACTCAGTGGAAGACTCAGAGAAGTATGTTTTTTTTAAAGAAGAAAC
5030857	98638	NM_000277.2(PAH):c.1208C>T (p.Ala403Val)	PAH	Jul 14, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102840507	AAGCCTGTGGTTTTGGTCTTAGGAACTTTGCTGCCACAATACCTCGGCCCTTCTCAGTTCG
587784096	168155	NM_022455.4(NSD1):c.3091C>T (p.Arg1031Ter)	NSD1	Apr 11, 2015	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177211490	TGTGGACGATCAAAGCCTTCATCCAAATTGCGAGATGCTTTTTCAGCCCAAATGGTAAAGA
587778872	79367	NM_020989.3(CRYGC):c.497C>T (p.Ser166Phe)	CRYGC	Jan 09, 2015	MedGen:C1852438,OMIM:604307;Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Cataract, coppock-like;Congenital cataract	unknown	2	208128231	ACTGGGGGGCCATGGATGCTAAGGCAGGCTCTTTGCGGAGAGTGGTGGATTTGTATTAAAA
267607070	21593	NM_001128844.1(SMARCA4):c.3565C>T (p.Arg1189Ter)	SMARCA4	Feb 12, 2010	MedGen:C2750074,OMIM:613325	Rhabdoid tumor predisposition syndrome 2	germline	19	11033308	CTCTTCCCCCAGGACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGCAGAACGAGG
111033746	36568	NM_000155.3(GALT):c.634C>T (p.Gln212Ter)	GALT	Dec 18, 2014	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline;unknown	9	34648403	GAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACA
864321626	216912	NM_006290.3(TNFAIP3):c.811C>T (p.Arg271Ter)	TNFAIP3	Nov 07, 2017	MedGen:C4225218,OMIM:616744,Orphanet:ORPHA476102;MedGen:CN517202	Autoinflammatory syndrome, familial, Behcet-like;not provided	germline	6	137877081	ACTTATGTATTATTTTTTTCCTTAGAAATCCGAGCTGTTCCACTTGTTAACAGAGACCGGG
370475970	414710	NM_005262.2(GFER):c.586C>T (p.Arg196Cys)	GFER	Apr 07, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	16	1985996	TTCGACTGCTCAAAAGTGGATGAGCGCTGGCGCGACGGCTGGAAGGATGGCTCCTGTGACT
121913017	31819	NM_000400.3(ERCC2):c.2176C>T (p.Gln726Ter)	ERCC2	Oct 01, 1994	MedGen:C0268138,OMIM:278730,SNOMED CT:68637004	Xeroderma pigmentosum, group D	germline	19	45352223	GTGGCCAAGTACTTCCTGCGGCAGATGGCACAGCCCTTCCACCGGGTGAGGCCTGCGTCCC
116840805	23315	NM_033337.2(CAV3):c.314C>T (p.Pro105Leu)	CAV3	Apr 15, 2012	MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265;MedGen:C1832560;MedGen:CN517202	Limb-girdle muscular dystrophy, type 1C;Rippling muscle disease 2;not provided	germline	3	8745725	TCTCCTTCTGCCACATCTGGGCGGTGGTGCCATGCATTAAGAGCTACCTGATCGAGATCCA
267606957	19887	NM_007254.3(PNKP):c.526C>T (p.Leu176Phe)	PNKP	Mar 01, 2010	MedGen:C3150667,OMIM:613402	Early infantile epileptic encephalopathy 10	germline	19	49864376	CAGGTGGCTGGCTTTGATCTGGACGGGACGCTCATCACCACACGCTCTGGGAAGGTCTTTC
754909135	362224	NM_018136.4(ASPM):c.5467C>T (p.Gln1823Ter)	ASPM	Apr 28, 2016	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	paternal	1	197103784	AGAGGTTATAAAGTACGCCAGCTAATCAAACAACAATCTATAGCTGCTCTTAAAATTCAGT
121908461	20878	NM_006790.2(MYOT):c.116C>T (p.Ser39Phe)	MYOT	May 05, 2017	MedGen:C1866785,OMIM:182920,Orphanet:ORPHA268129;MedGen:CN517202	Spheroid body myopathy;not provided	germline	5	137870767	CCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATTATCATCCAGCCCCGCCAGTGTACAGA
1057519484	362194	NM_153427.2(PITX2):c.191C>T (p.Pro64Leu)	PITX2	Nov 18, 2014	MedGen:C3714873,OMIM:180500	Axenfeld-Rieger syndrome type 1	maternal	4	110621225	TGGAGGCCACTTTCCAGAGGAACCGCTACCCGGACATGTCCACACGCGAAGAAATCGCTGT
-1	471931	NM_000044.4(AR):c.268C>T (p.Gln90Ter)	AR	Jul 17, 2017	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67545414	CAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCC
879255621	247485	NM_001145357.1(SIN3A):c.3310C>T (p.Arg1104Ter)	SIN3A	Aug 12, 2016	Gene:100502567,MedGen:C3150674,OMIM:613406	Witteveen-kolk syndrome	germline	15	75380702	CCATCTTAGCGCTGGTCAGACTACGTGGAGCGATACATGAATTCAGATACTACCTCGCCTG
1060499668	384434	NM_017519.2(ARID1B):c.1735C>T (p.Gln579Ter)	ARID1B	Jun 01, 2016	MedGen:C1303073,OMIM:601358,Orphanet:ORPHA3051,SNOMED CT:401046009	Nicolaides-Baraitser syndrome	de novo	6	156829419	GCCATGGCCGGAATGCAGTACCCTCAGCAGCAGGTTTGTGCTGGTCCCCCGACCCGCTGCT
121918168	15997	NM_000275.2(OCA2):c.1001C>T (p.Ala334Val)	OCA2	Jan 01, 2000	MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006	Tyrosinase-positive oculocutaneous albinism	germline	15	28014819	GCGGAAGTGTAGAAACCCAGGTGACCATCGCGACGGCCATCCTCGCGGGCGTCTACGCGCT
869312118	225115	NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)	TTN	Nov 30, 2016	MedGen:C1858763,OMIM:604145;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004	Dilated cardiomyopathy 1G;Primary dilated cardiomyopathy	germline	2	178562617	AATCTACAAGAAGGATGTTCTTACTACTTCCGAGTCTTGGCTTCCAATGAATATGGGATTG
878854600	243654	NM_003073.4(SMARCB1):c.*82C>T	SMARCB1	Aug 22, 2016	MedGen:C1836327,OMIM:609322	Rhabdoid tumor predisposition syndrome 1	germline	22	23834262	CTCTCCTCCATCTTCTGGCAAGGACAGAGGCGAGGGGACAGCCCAGCGCCATCCTGAGGAT
121434341	237524	NM_017780.3(CHD7):c.6955C>T (p.Arg2319Cys)	CHD7	Mar 17, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	de novo	8	60855993	TTCTCCCTCCAGGATAGAGTAATGATAAACCGCTTAGACAACATCTGTGAAGCAGTGTTGA
137852263	25656	NM_000133.3(F9):c.1217C>T (p.Ser406Leu)	F9	Oct 09, 2017	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561902	GTGCTGGCTTCCATGAAGGAGGTAGAGATTCATGTCAAGGAGATAGTGGGGGACCCCATGT
139310551	181577	NM_001429.3(EP300):c.4933C>T (p.Arg1645Ter)	EP300	Mar 09, 2015	MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284	Rubinstein-Taybi syndrome 2	germline	22	41176400	AGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGC
372127610	59373	NM_001261406.1(MPDZ):c.628C>T (p.Gln210Ter)	MPDZ	Jan 01, 2013	MedGen:C3554691,OMIM:615219	Hydrocephalus, nonsyndromic, autosomal recessive 2	germline	9	13222352	ATTACACATCAGCAGGCTATCAGCATCCTGCAGAAAGCCAAAGATACTGTCCAGCTAGTTA
781631629	445918	NM_021628.2(ALOXE3):c.1630C>T (p.Gln544Ter)	ALOXE3	Sep 20, 2017	MedGen:CN517202	not provided	germline	17	8108522	GACGCATCTGTGCAGCAGGATTCGGAGCTGCAGGCCTGGACTGGCGAGATTTTTGCTCAGG
72558420	103169	NM_000531.5(OTC):c.640C>T (p.His214Tyr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403717	ATCATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAGGCAGCTACTCCAAAGGTAGGGA
-1	462482	NM_003482.3(KMT2D):c.12985C>T (p.Gln4329Ter)	KMT2D	Mar 21, 2017	MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:313426007	Kabuki syndrome	germline	12	49031720	AGACCTTCACAATTACCTTCCCCCAGCTCCCAGCTTCCCACTGAGGCCCAGCTCCCTCCCA
397514765	75614	NM_000374.4(UROD):c.346C>T (p.Gln116Ter)	UROD	Apr 01, 2009	MedGen:C0162566,Orphanet:ORPHA101330,SNOMED CT:61860000	Porphyria cutanea tarda	germline	1	45013663	CCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAG
67333670	103215	NM_000531.5(OTC):c.785C>T (p.Thr262Ile)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408943	AAGCAGCGCATGGAGGCAATGTATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGA
766351395	444715	NM_000051.3(ATM):c.7865C>T (p.Ala2622Val)	ATM	Sep 06, 2017	MedGen:CN517202	not provided	germline	11	108332838	GGAGACCTCAGATGGTCAGAAGTGTTGAGGCACTTTGTGATGCTTATATTATATTAGCAAA
1057519435	362137	NM_001164342.2(ZBTB20):c.1786C>T (p.His596Tyr)	ZBTB20	-	MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042	Primrose syndrome	de novo	3	114350292	ACTTTCACCGCCAAACAGAACTACGTCAAGCACATGTTCGTACACACAGGTGAGTGTCACC
541717028	431641	NM_006343.2(MERTK):c.2164C>T (p.Arg722Ter)	MERTK	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	2	112019497	GAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAG
1060500931	400786	NM_000548.4(TSC2):c.1474C>T (p.Gln492Ter)	TSC2	May 20, 2016	MedGen:C1860707,OMIM:613254	Tuberous sclerosis 2	germline	16	2064302	GAGGAGCTGATTAACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCGAGGATAAAGACC
121917843	23143	NM_006261.4(PROP1):c.217C>T (p.Arg73Cys)	PROP1	Nov 01, 2004	MedGen:C0878683,OMIM:262600	Pituitary hormone deficiency, combined 2	germline	5	177994231	AGGGGCCGCCCGCACTCCCGGCGCCGCCACCGCACCACCTTCAGCCCAGTGCAGTTGGAAC
869312697	225865	NM_020732.3(ARID1B):c.6100C>T (p.Gln2034Ter)	ARID1B	Sep 04, 2015	MedGen:CN029606,OMIM:135900	Coffin-Siris syndrome 1	de novo	6	157207241	ACGTTGGTCACGTTGGCCAACATTTCCGGGCAGCTAGACTTGTCTGCTTACACGGAAAGCA
-1	428558	NM_020732.3(ARID1B):c.1483C>T (p.Gln495Ter)	ARID1B	Jun 27, 2016	MedGen:C3281201,OMIM:614562	Mental retardation, autosomal dominant 12	germline	6	156779412	GCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAGGAGTCACCCGGCGATGAGCCCCGGCA
869025601	224859	NM_001142864.3(PIEZO1):c.7289C>T (p.Pro2430Leu)	PIEZO1	Aug 04, 2016	MedGen:C4225184,OMIM:616843	Lymphedema, hereditary, III	germline	16	88715960	TGGTCATTTTCAGTGACAAGGTCAGCCCACCGAGCCTCGGCTTCCTGGCTGGCTACGGGTG
121918325	23733	NM_001122764.2(PPOX):c.502C>T (p.Arg168Cys)	PPOX	Jul 01, 1996	MedGen:C0162532,OMIM:176200,Orphanet:ORPHA79473,SNOMED CT:58275005	Variegate porphyria	germline	1	161168462	GTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGC
121909083	22346	NM_004560.3(ROR2):c.1504C>T (p.Gln502Ter)	ROR2	Aug 01, 2000	MedGen:C1849334,OMIM:268310,Orphanet:ORPHA1507	Robinow syndrome, autosomal recessive	germline	9	91724990	CTGTTCGGCCCTGCCCCGGGGGAGCAGACCCAGGCTGTGGCCATCAAAACGCTGAAGGACA
368452607	199141	NM_001256850.1(TTN):c.58102C>T (p.Arg19368Ter)	TTN	Oct 16, 2014	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	2	178588700	TTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCC
747604569	185305	NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter)	BRIP1	Oct 26, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	61849152	GATGATTTTCAAGTAGAGAAGAAAAGAATTCGACCCTTAGAAACTACACAGCAGGTAAACA
397516874	53911	NM_004004.5(GJB2):c.370C>T (p.Gln124Ter)	GJB2	Mar 27, 2014	MedGen:C2673759,OMIM:220290;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness	germline;unknown	13	20189212	GAATTTAAGGACATCGAGGAGATCAAAACCCAGAAGGTCCGCATCGAAGGCTCCCTGTGGT
121908168	19684	NM_006492.2(ALX3):c.547C>T (p.Arg183Trp)	ALX3	May 01, 2009	MedGen:C1876203,OMIM:136760	Frontonasal dysplasia 1	germline	1	110064634	CAGAAAACCCACTATCCTGATGTGTATGCCCGGGAGCAGCTGGCCCTGCGCACAGACCTGA
-1	467482	NM_000267.3(NF1):c.2953C>T (p.Gln985Ter)	NF1	Apr 24, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31229937	CATACTGAAGGCAGCTCTGAACATCTAGGGCAAGCTAGCATTGAAACAATGATGTTAAATC
397514730	75248	NM_000032.4(ALAS2):c.1642C>T (p.Gln548Ter)	ALAS2	Apr 01, 2013	MedGen:C2677889,OMIM:300752,Orphanet:ORPHA443197	Protoporphyria, erythropoietic, X-linked	germline	X	55009302	CTGGCTTGGACTGCGGTGGGGCTGCCCCTCCAGGATGTGTCTGTGGCTGCCTGCAATTTCT
113993948	25530	NM_000202.7(IDS):c.1122C>T (p.Gly374=)	IDS	Nov 28, 2016	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline;maternal	X	149486983	TGGAAGGACGGCTTCACTTCCGGAGGCAGGCGAGAAGCTTTTCCCTTACCTCGACCCTTTT
397516435	52758	NM_000546.5(TP53):c.586C>T (p.Arg196Ter)	TP53	Jul 11, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;not provided;not specified	germline	17	7674945	TTAGGTCTGGCCCCTCCTCAGCATCTTATCCGAGTGGAAGGAAATTTGCGTGTGGAGTATT
1131692309	424520	NM_000280.4(PAX6):c.661C>T (p.Gln221Ter)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo	11	31794651	CAAAGAAATAGAACATCCTTTACCCAAGAGCAAATTGAGGCCCTGGAGAAAGGTGATAGAG
145873635	44215	NM_004315.5(ASAH1):c.173C>T (p.Thr58Met)	ASAH1	Jul 30, 2015	MedGen:C1834569,OMIM:159950,Orphanet:ORPHA2590	Jankovic Rivera syndrome	germline	8	18075541	GAAAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACATCAGATGATCAAAACTCCC
121434536	32857	NM_031226.2(CYP19A1):c.1123C>T (p.Arg375Cys)	CYP19A1	Aug 27, 1998	MedGen:C0878680,OMIM:613546,Orphanet:ORPHA91	Aromatase deficiency	germline	15	51212460	CGGTACCAGCCTGTCGTGGACTTGGTCATGCGCAAAGCCTTAGAAGATGATGTAATCGATG
397515600	76709	NM_194248.2(OTOF):c.4157C>T (p.Thr1386Ile)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26467435	GGGCTGCCAAAGAGGAGAAGAAGAAGAAAACTCAGAGCTCTGGCTCTGGCCAGGGGTCCGA
121912742	32800	NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter)	SLC4A1	Jan 15, 1996	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44258512	GTGCTGCCTCCCACCGATGCCCCCTCCGAGCAGGCACTGCTCAGTCTGGTGCCTGTGCAGA
121434233	18447	NM_021628.2(ALOXE3):c.700C>T (p.Arg234Ter)	ALOXE3	Jun 13, 2017	Gene:140560,MedGen:C1847849,OMIM:606545;MedGen:CN517202	Autosomal recessive congenital ichthyosis 3;not provided	germline	17	8112177	TCTCCCATCAGGTCCTTGGGAATGAAGCTTCGAGGGCTGTTGGATCGCAAGGGCTCCTGGA
587776942	48504	NM_020964.2(EPG5):c.6232C>T (p.Arg2078Ter)	EPG5	Feb 23, 2015	MedGen:C1855772,OMIM:242840,Orphanet:ORPHA1493	Absent corpus callosum cataract immunodeficiency	germline	18	45867742	TGATTTTAATTCATTTTCTTTTAGGTGGAACGAGGAAGCCCCAAGAGCTGTTTCTTATTTT
199473450	67710	NM_000218.2(KCNQ1):c.409C>T (p.Leu137Phe)	KCNQ1	Aug 19, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2527950	TCTTGCAGCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGCGTGCTGTCCACCATCGAGC
750329103	421322	NM_000079.3(CHRNA1):c.175C>T (p.Gln59Ter)	CHRNA1	Apr 24, 2017	MedGen:CN517202	not provided	germline	2	174759502	GTGGAGGTCACCGTGGGCCTGCAGCTGATACAGCTCATCAATGTGGTGAGACAAGAGCACT
74315330	22987	NM_000261.1(MYOC):c.1109C>T (p.Pro370Leu)	MYOC	Apr 07, 2016	MedGen:C1842028,OMIM:137750;MedGen:CN517202	Primary open angle glaucoma juvenile onset 1;not provided	germline	1	171636331	TCCCTGGAGCTGGCTACCACGGACAGTTCCCGTATTCTTGGGGTGGCTACACGGACATTGA
121913567	29377	NM_005912.2(MC4R):c.656C>T (p.Ala219Val)	MC4R	Jan 01, 2005	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60371694	CTTCTCTCTATGTCCACATGTTCCTGATGGCCAGGCTTCACATTAAGAGGATTGCTGTCCT
115596308	39737	NM_005767.5(LPAR6):c.587C>T (p.Pro196Leu)	LPAR6	Mar 01, 2011	MedGen:C1848435,OMIM:278150	Hypotrichosis 8	germline	13	48411837	TTTTCATCGAAATAGTGGGATTTTTTATTCCTCTAATTTTAAATGTAACTTGTTCTAGTAT
61753230	485898	NM_000287.3(PEX6):c.2578C>T (p.Arg860Trp)	PEX6	Feb 20, 2018	MedGen:C3553937,OMIM:614863	Peroxisome biogenesis disorder 4B	germline	6	42965262	AGACCAGATCTCCTGGACCCTGCCCTTCTGCGGCCTGGCAGGTGGGCCCCTTGTACTGCTC
886041338	264038	NM_014795.3(ZEB2):c.1102C>T (p.Gln368Ter)	ZEB2	Jun 20, 2016	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152;MedGen:CN517202	Mowat-Wilson syndrome;not provided	germline	2	144400085	TCTTCTTCTCCTACTAATTCAGCCATTACCCAGTTAAGAAACAAGTTGGAGAATGGAAAAC
1060499801	389242	NM_000260.3(MYO7A):c.6196C>T (p.Gln2066Ter)	MYO7A	Jun 04, 2016	MedGen:C1838701,OMIM:600060	Deafness, autosomal recessive 2	germline	11	77211296	ATCCCCAAGCTGCTGCGGGAGCTGGTGCCCCAGGACCTTATCCGGCAGGTCTCACCTGATG
111033686	36508	NM_000155.3(GALT):c.413C>T (p.Thr138Met)	GALT	Sep 10, 2015	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	unknown	9	34647867	TCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCG
1057518807	361014	NM_001042492.2(NF1):c.6904C>T (p.Gln2302Ter)	NF1	Feb 09, 2017	Human Phenotype Ontology:HP:0007565,MedGen:C1861975,OMIM:114030,Orphanet:ORPHA2678;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;Human Phenotype Ontology:HP:0100698,MedGen:C1827970	Cafe au lait spots, multiple;Neurofibromatosis, type 1;Subcutaneous neurofibromas	germline;unknown	17	31338788	GAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTAT
119103255	17346	NM_005609.3(PYGM):c.1726C>T (p.Arg576Ter)	PYGM	Nov 17, 2017	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009;MedGen:CN517202	Glycogen storage disease, type V;not provided	germline;unknown	11	64751966	ATCCAGGTGAAGCGGATTCACGAATATAAACGACAGCTCCTCAACTGCCTCCATGTCATCA
28939701	21610	NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp)	ABCC6	Jan 09, 2017	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16163087	GCTGAGACGTTCCAGGGCAGCACAGTGGTCCGGGCATTCCGAACCCAGGCCCCCTTTGTGG
794728083	197972	NM_001943.4(DSG2):c.769C>T (p.Gln257Ter)	DSG2	May 28, 2014	MedGen:CN517202	not provided	germline	18	31524526	GAAGTTACAGACAAACCTGTAAAACAAGCTCAAGTTCAGATTCGTATTTTGGATGTCAATG
372827156	54183	NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter)	PKP2	Jul 27, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1836906,OMIM:609040;MedGen:CN221565;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular dysplasia/cardiomyopathy;not provided	germline	12	32850907	CTCCTAAAAGTTCAGAATGAAGACGTTCAGCGAGCTGTGTGTGGGGCCTTGAGAAACTTAG
886038975	258822	NM_000138.4(FBN1):c.7792C>T (p.Gln2598Ter)	FBN1	Mar 02, 2015	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48420714	TACAGGTGCAGCTGCCCCCAGGGCTACCTCCAGCACTACCAGTGGAACCAGTGTGTTGGCA
797045272	207365	NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter)	ARID1B	Oct 02, 2017	MedGen:C3281201,OMIM:614562;MedGen:CN517202	Mental retardation, autosomal dominant 12;not provided	germline	6	157084872	GTTGGCTCTCCTGTAGGAAGCAACCAGTCTCGATCTGGCCCAATCTCTCCTGCAAGTATCC
104894460	29035	NM_000270.3(PNP):c.172C>T (p.Arg58Ter)	PNP	Jun 01, 2001	MedGen:C0268125,OMIM:613179,Orphanet:ORPHA760,SNOMED CT:60743005	Purine-nucleoside phosphorylase deficiency	germline	14	20472468	TTTGACTACGGTGAAATCCCCAACTTTCCCCGAAGTACAGGTACTGGCAAGGGAAAGTGGG
77834169	57850	NM_000492.3(CFTR):c.349C>T (p.Arg117Cys)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117530974	GCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCT
137852998	19994	NM_023036.4(DNAI2):c.787C>T (p.Arg263Ter)	DNAI2	Sep 15, 2011	MedGen:C2676235,OMIM:612444	Ciliary dyskinesia, primary, 9	germline	17	74299780	GCGGAGCTATCCACCATTGAGTCCAGCCACCGAGACCCTGTGTATGGCACCATCTGGCTGC
63750554	94933	NM_000179.2(MSH6):c.3772C>T (p.Gln1258Ter)	MSH6	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47806329	CACTACCATTCATTAGTAGAAGATTATTCTCAAAATGTTGCTGTGCGCCTAGGACATATGG
63750996	95031	NM_000179.2(MSH6):c.706C>T (p.Gln236Ter)	MSH6	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47798689	GAGAGTGAAGAGGAAGTACAGCCTAAGACACAAGGATCTAGGCGAAGTAGCCGCCAAATAA
185492864	99918	NM_001918.3(DBT):c.901C>T (p.Arg301Cys)	DBT	May 25, 2017	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001;MedGen:CN517202	Maple syrup urine disease;not provided	germline;unknown	1	100214855	CGAGAAGAATTAAAACCCATTGCATTTGCTCGTGGAATTAAACTCTCCTTTATGCCTTTCT
886039345	260328	NM_006579.2(EBP):c.439C>T (p.Arg147Cys)	EBP	May 11, 2015	MedGen:CN517202	not provided	germline	X	48527255	GTGATCGCCTTTCTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGG
398124594	102502	NM_183050.3(BCKDHB):c.799C>T (p.Gln267Ter)	BCKDHB	Oct 17, 2014	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline;unknown	6	80200990	AACATCCCACTGTCCCAGGCCGAAGTCATACAGGAAGGGAGTGATGTTACTCTAGTTGCCT
17847577	20488	NM_000553.4(WRN):c.1105C>T (p.Arg369Ter)	WRN	Aug 10, 2017	MedGen:C0043119,OMIM:277700,Orphanet:ORPHA902,SNOMED CT:51626007	Werner syndrome	germline	8	31081132	GGAGAAGATGTACTTGGAAATAAAGTGGAACGAAAAGAAGATGGATTTGAAGATGGAGTAG
750024353	266572	NM_002180.2(IGHMBP2):c.2560C>T (p.Gln854Ter)	IGHMBP2	Aug 13, 2015	MedGen:C4015349,OMIM:616155,Orphanet:ORPHA443073;MedGen:C1858517,OMIM:604320,Orphanet:ORPHA98920	Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy, distal, autosomal recessive, 1	germline	11	68937040	GCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAA
111033539	27307	NM_000463.2(UGT1A1):c.991C>T (p.Gln331Ter)	UGT1A1	Jul 01, 1992	MedGen:C0010324,OMIM:218800,Orphanet:ORPHA79234	Crigler Najjar syndrome, type 1	germline	2	233767160	GCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCT
267606733	21089	NM_004273.4(CHST3):c.481C>T (p.Leu161Phe)	CHST3	Oct 01, 2010	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72007512	TTCTTCAACCAGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCA
28939069	20618	NM_014112.4(TRPS1):c.2893C>T (p.Arg965Cys)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115415015	GAGCAGATTATTAGGAGGAGAACAAGAAAGCGCCTTAACCCAGAGGCACTTCAGGCTGAGC
587783019	166169	NM_020366.3(RPGRIP1):c.2356C>T (p.Gln786Ter)	RPGRIP1	Sep 18, 2014	MedGen:C1854260,OMIM:613826	Leber congenital amaurosis 6	unknown	14	21325372	TCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCC
121909258	23351	NM_000388.3(CASR):c.2383C>T (p.Arg795Trp)	CASR	Mar 24, 2015	MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:CN517202	Hypocalciuric hypercalcemia, familial, type 1;not provided	germline	3	122284337	GCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCCA
587777782	166148	NM_177402.4(SYT2):c.923C>T (p.Pro308Leu)	SYT2	Sep 04, 2014	MedGen:C4015038,OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	germline	1	202599348	TCTGGGGTTGGGATTCTCCCTCCGCAGACCCGTACGTGAAGATCCACCTGATGCAGAATGG
120074182	18155	NM_000218.2(KCNQ1):c.935C>T (p.Thr312Ile)	KCNQ1	Jan 13, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 1;not provided	germline	11	2583448	TGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGAC
878853139	237496	NM_022068.3(PIEZO2):c.6662C>T (p.Thr2221Ile)	PIEZO2	Jun 04, 2014	MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154	Oculomelic amyoplasia	de novo	18	10696263	CCCAGAAACACTCAGCAGCTGCAGACATCACCTCTTCACTGTCAGAGGACCAGGTCCCGGG
797044527	178776	NM_023067.3(FOXL2):c.650C>T (p.Ser217Phe)	FOXL2	Jul 25, 2017	MedGen:C0220663,OMIM:110100,Orphanet:ORPHA126;MedGen:CN517202	Blepharophimosis, ptosis, and epicanthus inversus;not provided	germline	3	138946073	CGCAGCCTCCCTCACCCATGCCCTATGCCTCCTGCCAGATGGCGGCAGCCGCAGCGGCTGC
180177253	186658	NM_000030.2(AGXT):c.653C>T (p.Ser218Leu)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240874035	AGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTG
-1	481529	NM_001006657.1(WDR35):c.3091C>T (p.His1031Tyr)	WDR35	Feb 06, 2018	MedGen:C3150874,OMIM:613610	Cranioectodermal dysplasia 2	germline	2	19930459	GATAATGCATGGAGAGGGGCAGAGGCTTACCACTTCTTTATACTTGCACAGAGGCAGCTCT
141507441	214202	NM_023073.3(CPLANE1):c.8710C>T (p.Arg2904Ter)	CPLANE1	Oct 25, 2017	MedGen:C3553264,OMIM:614615;MedGen:CN517202	Joubert syndrome 17;not provided	germline;unknown	5	37125330	AGAGAGATTCAAGCCTGGATGAAAAGAAAACGAAAAGAAAGAATGGCAAAGTACTTAAATG
200391019	186055	NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp)	PKHD1	Jul 19, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003;MedGen:CN517202	Autosomal recessive polycystic kidney disease;not provided	germline;unknown	6	52024940	CTGACGGTGAACATCGGTGCTGAGCTCATCCGGTGCATTGTTCCCACAGGGAATGGCTCTG
180177354	78974	NM_017890.4(VPS13B):c.1504C>T (p.Arg502Ter)	VPS13B	-	MedGen:CN517202	not provided	germline	8	99135674	ACATACCTTACAAATTCATTGTTTGATTACCGAAGCCCAGAAAATAATGGTACTCGCGCAG
104894188	22284	NM_033022.3(RPS24):c.316C>T (p.Gln106Ter)	RPS24	Jun 25, 2009	MedGen:C1857719,OMIM:610629	Diamond-Blackfan anemia 3	germline	10	78037230	CTGTATGAGAAGAAAAAGACCTCAAGAAAGCAACGAAAGGAACGCAAGAACAGAATGAAGA
779773463	205037	NM_022406.3(XRCC4):c.481C>T (p.Arg161Ter)	XRCC4	Mar 05, 2015	MedGen:C4225288,OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	germline	5	83195935	CTTCTGAGAGATTGGAATGATGTTCAAGGACGGTGTGTACACAGTTTGCTTGTGGTATAAA
886039392	259766	NM_002222.5(ITPR1):c.805C>T (p.Arg269Trp)	ITPR1	Jun 24, 2016	MedGen:CN517202	not provided	germline	3	4645678	AAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAGTTCAA
869248137	229744	NM_004281.3(BAG3):c.925C>T (p.Arg309Ter)	BAG3	May 07, 2016	MedGen:C3151293,OMIM:613881;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1HH;Primary dilated cardiomyopathy;not provided	germline	10	119676479	GTGTCCTTTTTTCAGCAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAA
113993971	22526	NM_002775.4(HTRA1):c.1108C>T (p.Arg370Ter)	HTRA1	Sep 11, 2014	MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	germline	10	122508758	ATTAAAAAGTTCCTCACGGAGTCCCATGACCGACAGGCCAAAGGTAGGCAAGGCCCACACA
1114167462	419867	NM_000548.4(TSC2):c.1294C>T (p.Gln432Ter)	TSC2	Jun 10, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	2062533	TCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGA
587779400	106587	NM_000181.3(GUSB):c.530C>T (p.Thr177Ile)	GUSB	-	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	inherited	7	65979778	GAATCACTATCGCCATCAACAACACACTCACCCCCACCACCCTGCCACCAGGGACCATCCA
72552300	103184	NM_000531.5(OTC):c.67C>T (p.Arg23Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38352763	GCTTTTAGAAATGGTCACAACTTCATGGTTCGAAATTTTCGGTAAGTGATGGTCAGAGACT
-1	442187	NM_000435.2(NOTCH3):c.160C>T (p.Arg54Cys)	NOTCH3	Dec 16, 2015	MedGen:CN517202	not provided	germline	19	15197537	CTGGACGGAAGCCCGTGTGCAAATGGAGGTCGTTGCACCCAGCTGCCCTCCCGGGAGGCTG
104894645	19825	NM_025237.2(SOST):c.376C>T (p.Arg126Ter)	SOST	Mar 01, 2001	MedGen:CN032489,OMIM:269500	Sclerosteosis 1	germline	17	43755608	CCCAACGCCATCGGCCGCGGCAAGTGGTGGCGACCTAGTGGGCCCGACTTCCGCTGCATCC
765907815	225799	NM_024769.3(CLMP):c.508C>T (p.Arg170Ter)	CLMP	-	Human Phenotype Ontology:HP:0004389,MedGen:C0021847,OMIM:615237	Congenital short bowel syndrome	inherited	11	123083728	GAGCCCATTGTGTATTACTGGCAGCGAATCCGAGAGAAAGAGGGAGAGGATGAACGTCTGC
141848292	16155	NM_025137.3(SPG11):c.5623C>T (p.Gln1875Ter)	SPG11	Oct 13, 2016	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822;MedGen:CN517202	Spastic paraplegia 11, autosomal recessive;not provided	germline	15	44584057	ACATGCGAGAATAGATTGGATTGGAAAGAGCAGGAGTCACTAAACTTTTTGATTGGGCGCC
121912483	29583	NM_000228.2(LAMB3):c.496C>T (p.Gln166Ter)	LAMB3	Feb 01, 1998	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006	Junctional epidermolysis bullosa gravis of Herlitz	germline	1	209634515	ACCTTCCCTCGGGTCCGCCAGGGTCGGCCTCAGAGCTGGCAGGATGTTCGGTGCCAGTCCC
886039419	259994	NM_130799.2(MEN1):c.1198C>T (p.Gln400Ter)	MEN1	Aug 15, 2016	MedGen:CN517202	not provided	germline	11	64805186	CCCTTCCCCCTCGTCCAGGGCACCCAGAGCCAAGGTTCCGCCCTCCAGGACCCTGAGTGCT
137852435	25284	NM_000132.3(F8):c.2149C>T (p.Arg717Trp)	F8	Jan 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154931641	TGGATTCTGGGGTGCCACAACTCAGACTTTCGGAACAGAGGCATGACCGCCTTACTGAAGG
-1	483493	NM_000179.2(MSH6):c.1876C>T (p.Gln626Ter)	MSH6	Jul 31, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47799859	TCTCTTCAGGAAGGTCTGATACCCGGCTCCCAGTTTTGGGATGCATCCAAAACTTTGAGAA
587779170	96648	NM_000251.2(MSH2):c.652C>T (p.Gln218Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47412420	TTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAA
-1	485722	NM_001252634.1(THRB):c.941C>T (p.Ser314Phe)	THRB	Jan 12, 2016	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127702	TCCTCAAAGGCTGCTGCATGGAGATCATGTCCCTTCGCGCTGCTGTGCGCTATGACCCAGA
121909744	31134	NM_000340.1(SLC2A2):c.1250C>T (p.Pro417Leu)	SLC2A2	Sep 01, 1999	MedGen:C3495427,OMIM:227810,Orphanet:ORPHA2088,SNOMED CT:61598006	Fanconi-Bickel syndrome	germline	3	170998317	TTGTCAGCTTCTTTGAAATTGGGCCAGGCCCGATCCCCTGGTTCATGGTGGCTGAGTTTTT
104894724	27465	NM_000363.4(TNNI3):c.433C>T (p.Arg145Trp)	TNNI3	Jul 11, 2017	MedGen:C1861861,OMIM:115210;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial restrictive cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	19	55154146	CTTCGAGGCAAGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCAGATGCCATGA
587779976	133109	NM_000251.2(MSH2):c.70C>T (p.Gln24Ter)	MSH2	Jan 08, 2014	MedGen:CN517202	not provided	germline	2	47403261	GCGGCCGAGGTCGGCTTCGTGCGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAG
72664291	427060	NM_001171.5(ABCC6):c.662+12C>T	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16212173	CGTTCTGGTGGGTTTCTGGGTAAGTAAAGTCGCACGGAAGGGTTGGGGTGGTGCCTCACCC
755674457	452771	NM_005051.2(QARS):c.1387C>T (p.Arg463Ter)	QARS	Apr 07, 2017	MedGen:C4014239,OMIM:615760,Orphanet:ORPHA404437	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	germline	3	49099762	CACTCACTCTGCACCAAGGAATTCCAGGCCCGGTGAGGGAGCTGGGTCCATGGGGTGGTAG
1064793796	411341	NM_001193416.2(DDX3X):c.121C>T (p.Pro41Ser)	DDX3X	Jul 27, 2015	MedGen:CN517202	not provided	germline	X	41339053	TATATTTTTTTAGAAGGGCGCTATATTCCTCCTCATTTAAGGAACCGAGAAGCTACTAAAG
1131692181	424246	NM_001904.3(CTNNB1):c.1672C>T (p.Gln558Ter)	CTNNB1	Aug 15, 2017	MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473	Mental retardation, autosomal dominant 19	germline	3	41234286	CAGCGCCGTACGTCCATGGGTGGGACACAGCAGCAATTTGTGGTAGGTAAATTCTTACAGT
1131691164	421079	NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter)	ATM	Apr 16, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108292689	CTTTGTTGTGACTTATTAAGTCAGGTTTGCCAGACAGCCGTGACTTACTGTAAGGATGCTC
137852588	24879	NM_000044.4(AR):c.1645C>T (p.Pro549Ser)	AR	Aug 01, 1996	MedGen:C2678098,OMIM:300633	Hypospadias 1, X-linked	germline	X	67643284	AGTTTGGAGACTGCCAGGGACCATGTTTTGCCCATTGACTATTACTTTCCACCCCAGAAGA
727503180	174745	NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)	MYBPC3	Jul 09, 2015	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47333996	CACTCTATACCCACAGAACGGCCACGGCTTCAGCTGCCCAGGCACCTGCGCCAGACCATTC
886039550	260075	NM_000138.4(FBN1):c.1042C>T (p.Gln348Ter)	FBN1	Jun 22, 2016	MedGen:CN517202	not provided	germline	15	48520764	ACAGCTCTGACAAACGGGCGCTGCTCTAACCAGCTGCCACAGTCCATAACCAAAATGCAGT
771466122	226518	NM_025207.4(FLAD1):c.1588C>T (p.Arg530Cys)	FLAD1	Sep 08, 2017	MedGen:C0268596,OMIM:231680,Orphanet:ORPHA26791,SNOMED CT:22886006;MedGen:C4310822,OMIM:255100;MedGen:CN517202	Glutaric aciduria, type 2;Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency;not provided	germline;inherited	1	154992746	TGGACCTACAGAGACATCTGGGATTTTCTGCGTCAGCTGTTTGTCCCATACTGTATCCTGT
121912289	47545	NM_001363.4(DKC1):c.1226C>T (p.Pro409Leu)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154774672	ACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTA
778544828	427090	NM_001171.5(ABCC6):c.118C>T (p.Pro40Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16221750	TGCTTCCTGAGAACAGCAGGGGTCTGGGTACCCCCCATGTACCTCTGGGTCCTTGGTCCCA
-1	480725	NM_005199.4(CHRNG):c.1210C>T (p.Gln404Ter)	CHRNG	Dec 20, 2017	MedGen:C1854678,OMIM:253290,Orphanet:ORPHA33108,SNOMED CT:60192008	Lethal multiple pterygium syndrome	uniparental	2	232544541	CCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGG
121918046	28538	NM_002693.2(POLG):c.1879C>T (p.Arg627Trp)	POLG	Feb 01, 2003	MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	germline	15	89325520	CGTCATGGCTGGGGCTACTTGGTGCCTGGGCGGCGGGACAACCTGGCCAAGCTGCCGACAG
80356593	21176	NM_194248.2(OTOF):c.2485C>T (p.Gln829Ter)	OTOF	Jun 29, 2016	MedGen:C1832828,OMIM:601071;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, autosomal recessive 9;Nonsyndromic hearing loss and deafness;not provided	germline	2	26477210	CACACGGTGCGGGACAAGCTGAGGCTGTGCCAGAACTTCCTGCAGAAGCTGCGCTTCCTGG
886041324	264058	NM_001204.6(BMPR2):c.637C>T (p.Arg213Ter)	BMPR2	Jun 07, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202518837	TTAAAACACTTGCAGCTGATTGGCCGAGGTCGATATGGAGCAGTATATAAAGGCTCCTTGG
45448101	58502	NM_000548.4(TSC2):c.4993C>T (p.Gln1665Ter)	TSC2	Jul 08, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2087866	GGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCC
199473373	78464	NM_000891.2(KCNJ2):c.244C>T (p.Arg82Trp)	KCNJ2	Jan 21, 2017	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;EFO:EFO_0005306,Human Phenotype Ontology:HP:0004756,MedGen:C2108113,SNOMED CT:25569003	Andersen Tawil syndrome;Ventricular tachycardia	germline	17	70175283	ATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTT
398124500	102333	NM_138694.3(PKHD1):c.8824C>T (p.Arg2942Ter)	PKHD1	Jan 16, 2015	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	51753327	CCAGGAAGTGTACATGTCACGGAGGATGGCCGACACATTCGTTTGGCTGCTGAGGTTGGAC
80338860	21826	NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp)	DHCR7	Sep 14, 2016	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71435749	CTGCTGGGCCTGGTGGGCTACTACATCTTCCGGGTGGCCAACCACCAGAAGGACCTGTTCC
104894133	16035	NM_000380.3(XPA):c.619C>T (p.Arg207Ter)	XPA	Mar 01, 1992	MedGen:C0268135,OMIM:278700	Xeroderma pigmentosum, type 1	germline	9	97684977	CAAGAAGCATTAGAAGAAGCAAAGGAAGTCCGACAGGAAAACCGAGAAAAAATGAAACAGA
-1	487964	NM_000411.7(HLCS):c.1135C>T (p.Gln379Ter)	HLCS	May 04, 2017	MedGen:C0268581,OMIM:253270,Orphanet:ORPHA79242	Holocarboxylase synthetase deficiency	germline	21	36930295	ACAACCCTTGGCCTCAGCTGTGACATGAAACAAGTTCCTGCCTTAACTCCTCTTTACTTGC
757188030	227443	NM_001129820.1(SLFN14):c.667C>T (p.Arg223Trp)	SLFN14	Apr 22, 2016	MedGen:C4310797,OMIM:616913,Orphanet:ORPHA466806	Platelet-type bleeding disorder 20	germline	17	35557396	AAAAGGTTCACCACCAAAAAAGTCATACCTCGGATTAAGGAAATGCTGCCTCATTATGTTT
137852345	25449	NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)	G6PD	May 24, 2017	MedGen:C4017590;na	Anemia, nonspeherocytic hemolytic, due to g6pd deficiency;G6PD SERRES	germline	X	154532772	GGGTGCCCTTCATCCTGCGCTGCGGCAAGGCCCTGAACGAGCGCAAGGCCGAGGTGAGGCT
137853047	22113	NM_006009.3(TUBA1A):c.1256C>T (p.Ser419Leu)	TUBA1A	Sep 15, 2010	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011	Lissencephaly 3	germline	12	49185110	TTGGGGAGGGGATGGAGGAAGGTGAGTTTTCAGAGGCCCGTGAGGACATGGCTGCCCTTGA
104894706	19830	NM_181882.2(PRX):c.586C>T (p.Arg196Ter)	PRX	Feb 15, 2001	MedGen:C3540453,OMIM:614895,Orphanet:ORPHA99952;MedGen:C0011195,OMIM:145900,Orphanet:ORPHA64748,SNOMED CT:111499002	Charcot-Marie-Tooth disease, demyelinating, type 4f;Dejerine-Sottas disease	germline	19	40397766	CGGCGCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAAGAGGCTCAGGCAGCCC
878853718	238917	NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter)	MSH6	Sep 06, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47800663	TCTAAAATCCTTAAGCAGGTCATCTCTCTGCAGACAAAAAATCCTGAAGGTCGTTTTCCTG
137852311	25524	NM_000032.4(ALAS2):c.1354C>T (p.Arg452Cys)	ALAS2	Aug 30, 2016	MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED CT:62677000;MedGen:CN517202	Hereditary sideroblastic anemia;not provided	germline	X	55014830	GAGGGCCAAGCCCTGAGGCGAGCCCACCAGCGCAATGTCAAGCACATGCGCCAGCTACTCA
121907931	18473	NM_024105.3(ALG12):c.200C>T (p.Thr67Met)	ALG12	Sep 15, 2002	MedGen:C2931001,OMIM:607143,Orphanet:ORPHA79324,SNOMED CT:711155008	ALG12-congenital disorder of glycosylation	germline	22	49913480	ATCTTGAGTTCCCCGGAGTCGTCCCCAGGACGTTCCTCGGGCCAGTGGTGATCGCAGTGTT
75949023	39947	NM_144612.6(LOXHD1):c.4714C>T (p.Arg1572Ter)	LOXHD1	Feb 16, 2016	MedGen:C2746083,OMIM:613079;MedGen:C2746083,OMIM:613079;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 77;Deafness, autosomal recessive 77;Nonsyndromic hearing loss and deafness	germline	18	46524734	CGCTGGCTCTCCCTGAAGAAGGAGGATGGGCGACTCGAGAGGCTCTTTTACGAGAAGGTGA
121434325	16756	NM_000082.3(ERCC8):c.479C>T (p.Ala160Val)	ERCC8	Aug 29, 2016	MedGen:C0751039,OMIM:216400,Orphanet:ORPHA90321;MedGen:CN517202	Cockayne syndrome type A;not provided	germline	5	60904794	CTCCAGTCTCCACCAAGCACTGTTTGGTAGCAGGTTTGTAAGTGTATTCTTTTGTCTTTTG
121908180	19622	NM_031885.3(BBS2):c.646C>T (p.Arg216Ter)	BBS2	Sep 21, 2001	MedGen:C4016908	Bardet-biedl syndrome 2/6, digenic	germline	16	56506191	GTCACCTCTCTTTGTCCCATGTATGGCAGTCGATTTGGTTATGCCCTTTCCAATGGCACAG
28942093	18455	NM_006147.3(IRF6):c.5C>T (p.Ala2Val)	IRF6	Oct 01, 2003	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209801409	ATTTCTCCCTCTGACCCCCCCAGATCATGGCCCTCCACCCCCGCAGAGTCCGGCTAAAGCC
200105202	211239	NM_020745.3(AARS2):c.595C>T (p.Arg199Cys)	AARS2	Jul 12, 2017	MedGen:CN517202	not provided	germline	6	44311148	CCTGCTTTTCTCCCCAGGGTGCCTGCTAGCCGTGTGCTTTCCTTTGGACCACAAGAGAACT
137852657	34383	NM_015915.4(ATL1):c.467C>T (p.Thr156Ile)	ATL1	Sep 21, 2010	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984	Spastic paraplegia 3	not provided	14	50591584	ATACTCAGGGAACCTTTGATAGTCAGTCAACTTTGAGAGATTCAGCCACAGTATTTGCCCT
759213174	264398	NM_015046.5(SETX):c.4816C>T (p.Arg1606Ter)	SETX	Mar 09, 2016	MedGen:CN517202	not provided	germline	9	132326782	ACTAAGATTTTTAGCTCAAAGAGTACTTCACGAATTGCTGGTCTTTCTAAATCTTTGGAAA
1060499805	389220	NM_004802.3(OTOF):c.1729C>T (p.Arg577Ter)	OTOF	Jun 04, 2016	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	germline	2	26468468	CCTTTTCATCTCATCTTTTGGCAGCAACTTCGACAACAAGAGCCCTCTGGAATTGACTTGG
869312755	226343	NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter)	ATM	Oct 31, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108293436	GTTGTTTTTAAGGATTTGCGTATTACTCAGCAAAAAATCAAATACAGTAGAGGACCCTTTT
1057516281	357938	NM_000352.4(ABCC8):c.3748C>T (p.Arg1250Ter)	ABCC8	Dec 11, 2015	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	unknown	11	17398344	CTCACAGCTGCCAACAGATGGCTGGAAGTCCGAATGGCAAGTGCTATTCCCCTCTACCCTG
794729675	199880	NM_000165.4(GJA1):c.131C>T (p.Ala44Val)	GJA1	Jun 01, 2015	MedGen:CN258421,OMIM:617525	Erythrokeratodermia variabilis et progressiva 3	germline	6	121446978	TCCTGCTGCTGGGGACAGCGGTTGAGTCAGCCTGGGGAGATGAGCAGTCTGCCTTTCGTTG
80338843	21932	NM_003002.3(SDHD):c.112C>T (p.Arg38Ter)	SDHD	Aug 30, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1847319,OMIM:606864,Orphanet:ORPHA97286;MedGen:C1868633,OMIM:168000;MedGen:C1868633,OMIM:168000;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1;Paragangliomas 1;Pheochromocytoma;Pheochromocytoma;not provided	germline	11	112087916	CCTGCTCATATCTCAGCATTTCTTCAGGACCGACCTATCCCAGAATGGTGTGGAGTGCAGC
775827529	474395	NM_004168.3(SDHA):c.553C>T (p.Gln185Ter)	SDHA	Mar 29, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	225979	GGACAGAGCCTCAAGTTTGGAAAGGGCGGGCAGGCCCATCGGTGCTGCTGTGTGGCTGATC
587783882	168337	NM_133433.3(NIPBL):c.1183C>T (p.Gln395Ter)	NIPBL	Jul 10, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36976090	GTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACCCA
786201856	182336	NM_000038.5(APC):c.847C>T (p.Arg283Ter)	APC	Mar 09, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0346629;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Malignant Colorectal Neoplasm;not provided	germline;somatic;unknown	5	112815507	AATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGA
869312751	226244	NM_006493.2(CLN5):c.694C>T (p.Gln232Ter)	CLN5	Oct 20, 2016	MedGen:C1850442,OMIM:256731,Orphanet:ORPHA228360	Ceroid lipofuscinosis neuronal 5	germline	13	76996109	GTTCACTGGAAGGAAAATGGGACATTAGTTCAAGTAGCAACTATATCAGGTAAGTTGTGAA
121912582	23571	NM_004442.7(EPHB2):c.2167C>T (p.Gln723Ter)	EPHB2	Aug 01, 2014	MedGen:C1863600,OMIM:603688	Prostate cancer/brain cancer susceptibility	somatic	1	22907980	AAGCAAAACGATGGGCAGTTCACAGTCATCCAGCTGGTGGGCATGCTTCGGGGCATCGCAG
121918260	16915	NM_020376.3(PNPLA2):c.865C>T (p.Gln289Ter)	PNPLA2	Jan 01, 2007	MedGen:C1853136,OMIM:610717,Orphanet:ORPHA98908	Neutral lipid storage disease with myopathy	germline	11	823801	GTGGAGAGCGCCCAAGCGGAGGATTACTCGCAGCTGCCCGGAGAAGATCACATCCTGGAGC
397514701	65569	NM_032208.2(ANTXR1):c.262C>T (p.Arg88Ter)	ANTXR1	May 02, 2013	MedGen:C0406723,OMIM:230740,Orphanet:ORPHA2067,SNOMED CT:239028001	Odontotrichomelic syndrome	germline	2	69044779	TTGAGAATGTCCTTTATTGTTTTCTCCACCCGAGGAACAACCTTAATGAAACTGACAGAAG
781261060	362376	NM_032578.3(MYPN):c.1129C>T (p.Arg377Ter)	MYPN	Feb 08, 2017	MedGen:CN240509,OMIM:617336	Nemaline myopathy 11, autosomal recessive	germline	10	68145525	GAAGGCGACCCTAACAAGGAAGAGATGAATCGGTAATTCTGATTTTCTGTCTTATAGCTTT
387907599	71505	NM_006563.4(KLF1):c.1012C>T (p.Pro338Ser)	KLF1	-	MedGen:C1292231,OMIM:111150;MedGen:C3150926,OMIM:613673,Orphanet:ORPHA293825;MedGen:C3150805,OMIM:613566	BLOOD GROUP--LUTHERAN INHIBITOR;Congenital dyserythropoietic anemia, type IV;Fetal hemoglobin quantitative trait locus 6	not provided	19	12884962	CGCCACTACCGGAAACACACGGGGCAGCGCCCCTTCCGCTGCCAGCTCTGCCCACGTGCTT
6445	27198	NM_000500.7(CYP21A2):c.1360C>T (p.Pro454Ser)	CYP21A2	Jul 18, 2016	MedGen:C0852654,OMIM:201910	21-hydroxylase deficiency	germline	6	32041006	ACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGC
28933677	25323	NM_000132.3(F8):c.5558C>T (p.Ala1853Val)	F8	Dec 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904839	CACCCACTAAAGATGAGTTTGACTGCAAAGCCTGGGCTTATTTCTCTGATGTTGACCTGGT
80356969	70213	NM_007294.3(BRCA1):c.5353C>T (p.Gln1785Ter)	BRCA1	Mar 27, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43049174	TCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGC
121434517	19106	NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36935105	ATCATTGATACACCTCAATTTCAACGTCTTCGATACATCAAACAGCTGGGAGGTGGTTACT
397508075	67618	NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter)	KCNQ1	Sep 13, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	11	2585254	TCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCC
780261665	360853	NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter)	COL7A1	Oct 21, 2016	Human Phenotype Ontology:HP:0006101,MedGen:C0221352;Human Phenotype Ontology:HP:0007446,MedGen:C4024876;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Human Phenotype Ontology:HP:0001770,MedGen:C0265660;MedGen:CN517202	Finger syndactyly;Palmoplantar blistering;Short stature;Toe syndactyly;not provided	germline;unknown	3	48590258	ACCACCTACCAGGTGGCTGTGTCGGTACTGCGAGGCAGAGAGGAGGGCCCTGCTGCAGTCA
985118235	409139	NM_001244189.1(KIAA0586):c.946C>T (p.Gln316Ter)	KIAA0586	Mar 01, 2017	MedGen:CN517202	not provided	germline	14	58444155	CAGCACATAAGGCATCTTGAAAAGTTACAACAACAACAAATAGATATTCAGGTATCTGTAA
551236750	213770	NM_004064.4(CDKN1B):c.-80C>T	CDKN1B	Jan 01, 2015	Human Phenotype Ontology:HP:0008200,MedGen:C0221002,SNOMED CT:36348003	Primary hyperparathyroidism	germline	12	12717760	CAGTCGCTGGGCTTCCGAGAGGGGTTCGGGCTGCGTAGGGGCGCTTTGTTTTGTTCGGTTT
377549148	32109	NM_172369.4(C1QC):c.205C>T (p.Arg69Ter)	C1QC	Apr 01, 1996	MedGen:C3150902,OMIM:613652	C1q deficiency	germline	1	22647250	TCTCCAGGAATCCCAGCCATTCCCGGGATCCGAGGACCCAAAGGGCAGAAGGGAGAACCCG
587783889	168343	NM_133433.3(NIPBL):c.1576C>T (p.Gln526Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36984756	GGTGCTACAGGAGGTAATAGACCAGCTTCTCAGGAGACGGGTTCTACGGGAAATGGGTCAA
28934906	26850	NM_004992.3(MECP2):c.473C>T (p.Thr158Met)	MECP2	Jun 14, 2017	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004;MedGen:C1845336,OMIM:300496;MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;MedGen:CN517202;MedGen:CN169374	Angelman syndrome;Autism, susceptibility to, X-linked 3;Mental retardation, X-linked, syndromic 13;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;not provided;not specified	de novo;germline;maternal;unknown	X	154031355	CATCCCTGGACCCTAATGATTTTGACTTCACGGTAACTGGGAGAGGGAGCCCCTCCCGGCG
864309650	215639	NM_001320327.1(CHCHD2):c.182C>T (p.Thr61Ile)	CHCHD2	Jul 01, 2015	MedGen:C4225238,OMIM:616710	Parkinson disease 22, autosomal dominant	germline	7	56104344	GGCAGCCAGGTCTGATGGCCCAGATGGCAACCACTGCAGCTGGCGTGGCTGTGGGCTCTGC
200646278	47624	NM_024312.4(GNPTAB):c.1090C>T (p.Arg364Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101770429	ATTCCATCCTGGCTGAACCTTGACAATCCTCGAGTGACAATAGTAACACACCAGGTACAGG
267606786	17515	NM_000401.3(EXT2):c.871C>T (p.Gln291Ter)	EXT2	May 01, 2009	MedGen:C1851413,OMIM:133701	Multiple exostoses type 2	germline	11	44124817	AGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCATCCTGAGTACAGAGAGG
924532501	481875	NM_012330.3(KAT6B):c.5254C>T (p.Gln1752Ter)	KAT6B	Jun 14, 2017	MedGen:CN517202	not provided	germline	10	75030078	TCCCCTCCGACCTGCAGCGTCAAGTCTCCTCAAGGCTGTGTGGTGGAGAGGCCTCCGAGCA
587777157	106640	NM_144628.3(TBC1D20):c.199C>T (p.Arg67Ter)	TBC1D20	Dec 05, 2013	MedGen:C3810265,OMIM:615663	Warburg micro syndrome 4	germline	20	447946	GAAGGAGGGCTCCTGACTGATGAGATCAGACGAAAAGTGTGGCCCAAGCTCCTCAATGTCA
267606739	20262	NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline;unknown	8	86668055	AAAAAGATGCCTTTAACAGAGTACTTAAAGCGAATTAAACTTCCAAACAGCATAGATTCAT
111033594	23005	NM_130838.1(UBE3A):c.1249C>T (p.Arg417Ter)	UBE3A	Jan 01, 1997	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25370865	ACTGAACTTGGTGTTAAAACCCTGGATTGTCGAAAACCACTTATCCCTTTTGAAGAGTTTA
759101551	414419	NM_001013703.3(EIF2AK4):c.2857C>T (p.Q953*)	EIF2AK4	-	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	39997054	ACGGCTTCAGAAAGGATCTTTGTTCTCAACCAACTCAGAGATGTATGTATCAGGTGTTTTA
-1	456775	NM_001458.4(FLNC):c.697C>T (p.Gln233Ter)	FLNC	Jun 13, 2017	MedGen:CN239310	Dilated Cardiomyopathy, Dominant	germline	7	128837255	CAGCAGGCCGACGACTGGCTTGGGGTGCCCCAGGTACATGCGCAGATGGGGCAGGGGGGAA
587783519	169933	NM_178151.2(DCX):c.115C>T (p.Arg39Ter)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410284	CCCACTCACAGCGCCCACTGTAGCTTCTACCGAACCAGAACCTTGCAGGCACTGAGTAATG
267607069	31803	NM_001044.4(SLC6A3):c.1184C>T (p.Pro395Leu)	SLC6A3	Jun 01, 2009	MedGen:C2751067,OMIM:613135,Orphanet:ORPHA238455	Infantile Parkinsonism-dystonia	germline	5	1411328	CAGGGCCAGGGCTGATCTTCATCATCTACCCGGAAGCCATCGCCACGCTCCCTCTGTCCTC
34594498	47737	NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val)	LRRK2	Sep 13, 2012	MedGen:C1846862,OMIM:607060	Parkinson disease 8, autosomal dominant	not provided	12	40252984	CTTCATCAAAGGAAGTTTTCCAGGCATCTGCGAATGCATTGTCAACTCTCTTAGAACAAAA
121908973	21984	NM_002485.4(NBN):c.976C>T (p.Gln326Ter)	NBN	Mar 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	germline	8	89964428	TTCATGACTACAAAGAATTACTGTGATCCTCAGGGCCATCCCAGTACAGGTAATTGAAGCA
747676107	404697	NM_001440.3(EXTL3):c.1015C>T (p.Arg339Trp)	EXTL3	Apr 05, 2017	MedGen:CN241841,OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	germline	8	28717074	ATGGAAATCCCACCACAGGTGCCGGTGAAGCGGAAATATCTCTTCACCTTCCAGGGCGAGA
796052964	201607	NM_001165963.1(SCN1A):c.842C>T (p.Pro281Leu)	SCN1A	Apr 15, 2013	MedGen:CN517202	not provided	germline	2	166051841	GCAACCTGAGGAATAAATGTATACAATGGCCTCCCACCAATGCTTCCTTGGAGGAACATAG
397515489	77881	NM_015284.3(SZT2):c.73C>T (p.Arg25Ter)	SZT2	Sep 05, 2013	MedGen:C3809624,OMIM:615476	Early infantile epileptic encephalopathy 18	germline	1	43403222	CAGGTGTTCCTGTTAATGAAAAAGGATTATCGAATCTCCCGAAATGTTCGCCTGGCTTGGT
796052126	200981	NM_203290.3(POLR1C):c.77C>T (p.Thr26Ile)	POLR1C	Jul 07, 2015	MedGen:C4225305,OMIM:616494	Leukodystrophy, hypomyelinating, 11	germline	6	43517313	ACAAATTCGTCCCTTTGCTCTAGGTCCATACTACTGACTTTCCCGGTAACTATTCCGGTTA
587783892	168346	NM_133433.3(NIPBL):c.1885C>T (p.Arg629Ter)	NIPBL	Oct 05, 2015	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36985065	AGATTAGCAGAATCTAAACCAAATGAAAACCGATTGGTGGAGACAAAATCAAGTGAAAATA
62507344	15662	NM_000277.2(PAH):c.1066-3C>T	PAH	Nov 06, 2014	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102843782	CAGTGATAATAACTTTTCACTTGGGGCCTACAGTACTGCTTATCAGAGAAGCCAAAGCTTC
1057524176	369126	NM_000441.1(SLC26A4):c.2206C>T (p.Gln736Ter)	SLC26A4	Dec 29, 2016	MedGen:CN517202	not provided	germline	7	107710170	ATACTCTATCTACAGAACCAAGTGAAATCTCAAGAGGGTCAAGGTTCCATTTTAGAAACGG
483352832	136692	NM_001001430.2(TNNT2):c.430C>T (p.Arg144Trp)	TNNT2	-	MedGen:C2750995,OMIM:613172	Dilated cardiomyopathy 1DD	germline	1	201364327	CGGGCCGAGCAGCAGCGCATCCGGAATGAGCGGGAGAAGGAGCGGCAGAACCGCCTGGCTG
137852451	25338	NM_000132.3(F8):c.5938C>T (p.His1980Tyr)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154903966	GAAAACATCCATTCTATTCATTTCAGTGGACATGTGTTCACTGTACGAAAAAAAGAGGAGT
121908803	68693	NM_000492.3(CFTR):c.613C>T (p.Pro205Ser)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117535281	CTTGCATTGGCACATTTCGTGTGGATCGCTCCTTTGCAAGTGGCACTCCTCATGGGGCTAA
104895046	132512	NM_005732.3(RAD50):c.1114C>T (p.Gln372Ter)	RAD50	Nov 01, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	132588749	GAACATATCCGAGCTAGAGATTCATTAATTCAGTCTTTGGCAACACAGCTAGAATTGGATG
386833697	70885	NM_001042432.1(CLN3):c.1054C>T (p.Gln352Ter)	CLN3	Oct 10, 2017	MedGen:C0751383,OMIM:204200,Orphanet:ORPHA79264,SNOMED CT:61663001;MedGen:CN517202	Juvenile neuronal ceroid lipofuscinosis;not provided	germline	16	28482107	ATCCGTTTCACCTGGGCCCTGGCCCTGCTGCAGGTACCAAACCCCTGCCCCTCACTTCACT
151242354	187999	NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter)	ERCC6	May 23, 2017	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:CN517202	Cockayne syndrome B;not provided	germline	10	49482689	ATGGGGGGATATTCAAATGCTTCCCCAGTACAGGTAAAATATTAGGATGATAATACTTTTG
538329212	425885	NM_006077.3(MICU1):c.355C>T (p.Arg119Ter)	MICU1	Oct 09, 2015	MedGen:CN517202	not provided	germline	10	72551317	CTTTAGGTGATGGAATATGAGAATAGGATTCGAGCCTACTCCACGCCAGACAAAATCTTCC
398123481	173736	NM_000551.3(VHL):c.256C>T (p.Pro86Ser)	VHL	Sep 28, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome;not provided	germline	3	10142103	TTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGC
57120761	31213	NM_002055.4(GFAP):c.226C>T (p.Leu76Phe)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915261	CGGGCCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTACATCGAGA
864321634	216949	NM_100264.2(WAC):c.1717C>T (p.Gln573Ter)	WAC	Nov 01, 2015	MedGen:C4225239,OMIM:616708	Desanto-shinawi syndrome	germline	10	28617762	TTAAGATCTTTAGTCCGAGTATGTGAAATTCAAGCAACTTTGCGAGAGCAAAGGTAAGTCT
371334239	486961	NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter)	COL4A3	Jun 26, 2016	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919	Alport syndrome, autosomal recessive	germline	2	227263845	TGGCCAGGCCTGAAAGGAAGTAAAGGGGAACGAGGCCGCCCAGGAAAGGATGCCATGGGGA
-1	427287	NM_000038.5(APC):c.3682C>T (p.Gln1228Ter)	APC	Mar 27, 2015	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112839276	ACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGA
797044813	204270	NM_000084.4(CLCN5):c.1909C>T (p.Arg637Ter)	CLCN5	Dec 01, 2015	MedGen:C1848336,OMIM:300009;MedGen:CN517202	Dent disease 1;not provided	germline	X	50090490	GAGTCCCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGGTAAGG
796053197	201344	NM_021007.2(SCN2A):c.2809C>T (p.Arg937Cys)	SCN2A	Apr 12, 2017	MedGen:CN517202	not provided	germline	2	165344801	GACTTTTTCCACTCCTTCCTGATCGTGTTCCGCGTGCTGTGTGGAGAGTGGATAGAGACCA
374946172	68148	NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117592520	CACTCAGTTAACCAAGGTCAGAACATTCACCGAAAGACAACAGCATCCACACGAAAAGTGT
143343083	169011	NM_004004.5(GJB2):c.298C>T (p.His100Tyr)	GJB2	Mar 14, 2017	MedGen:C2673759,OMIM:220290;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN169374	Deafness, autosomal recessive 1A;Hearing impairment;Nonsyndromic hearing loss and deafness;not specified	germline;unknown	13	20189284	CTAGTGGCCATGCACGTGGCCTACCGGAGACATGAGAAGAAGAGGAAGTTCATCAAGGGGG
137853236	29967	NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)	HNF1A	Apr 01, 1997	MedGen:C1838100,OMIM:600496	Maturity-onset diabetes of the young, type 3	germline	12	120997504	GCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGAC
386834099	71318	NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter)	VPS13B	Oct 31, 2016	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	unknown	8	99642342	CTTGGTATAACTATTGTTCGGCAGCCTGGTCGAAGAGGAACTGGTGACTTACAGCTAGAGC
761785906	211094	NM_015697.7(COQ2):c.950C>T (p.Thr317Met)	COQ2	Mar 31, 2014	MedGen:CN517202	not provided	germline	4	83267737	GAGATGATGTTTTGATTGGTCTTAAGTCAACGGCTCTGCGGTTCGGAGAAAATACCAAGCC
387907140	40165	NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter)	ARID1B	Mar 09, 2012	MedGen:CN029606,OMIM:135900	Coffin-Siris syndrome 1	germline	6	157196221	ACGCAAGGACAGATGCCCAACAGCAGCATGCAGGACATGTACAACCAAAGTCCCTCCGGAG
121908178	19612	NM_031885.3(BBS2):c.943C>T (p.Arg315Trp)	BBS2	Sep 21, 2001	MedGen:C4016956	Bardet-biedl syndrome 2/4, digenic	germline	16	56502454	ATACTTGCGGTTTTTTCCTTCTGTTCAGTCCGGGGCTACCTGCCTGGCACGGCTGAGATGA
368609628	440555	NM_001165963.2(SCN1A):c.3496C>T (p.Gln1166Ter)	SCN1A	Aug 19, 2016	MedGen:CN517202	not provided	germline	2	166015661	ACTGTGGACATCGGCGCACCTGTAGAAGAACAGCCCGTAGTGGAACCTGAAGAAACTCTTG
34695403	18606	NM_002225.3(IVD):c.157C>T (p.Arg53Cys)	IVD	Feb 01, 2000	MedGen:C0268575,OMIM:243500,Orphanet:ORPHA33,SNOMED CT:87827003	Isovaleryl-CoA dehydrogenase deficiency	germline	15	40407639	GGCATCTGTTTACCTCTCTCCTATTAGCTTCGTCAGACCATGGCTAAGTTCCTTCAGGAGC
80338794	20654	NM_012434.4(SLC17A5):c.115C>T (p.Arg39Cys)	SLC17A5	Aug 21, 2015	MedGen:C1096903,OMIM:604369,Orphanet:ORPHA309334,SNOMED CT:87074006;MedGen:CN517202	Salla disease;not provided	germline;unknown	6	73644583	TTTATTTCAGCTCCAGTGTGCTGCTCTGCTCGTTACAACTTAGCAATTTTGGCCTTTTTTG
1085307883	415756	NM_003639.4(IKBKG):c.766C>T (p.Arg256Ter)	IKBKG	Feb 08, 2017	MedGen:CN517202	not provided	germline	X	154561782	AAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGC
369368181	179798	NM_000271.4(NPC1):c.1628C>T (p.Pro543Leu)	NPC1	Jul 27, 2017	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline;unknown	18	23551653	GTCTGGGTACGTTTGGTGGACCAGTGTTCCCGTGGCTTGTGTTGGGAGGCTATGATGGTAA
72558454	26038	NM_000531.5(OTC):c.829C>T (p.Arg277Trp)	OTC	Jul 28, 2016	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38408987	AGCATGGGACAAGAAGAGGAGAAGAAAAAGCGGCTCCAGGCTTTCCAAGGTTACCAGGTTA
397507177	45930	NM_005732.3(RAD50):c.2821C>T (p.Gln941Ter)	RAD50	Mar 21, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132608717	AACAAAAAAAATACAAGCAACAAAATAGCACAGGATAAAGTAAGATTTCATTTATATATTT
527236151	152920	NM_001194958.2(KCNJ18):c.127C>T (p.Arg43Cys)	KCNJ18	Jul 31, 2014	MedGen:C0268446,OMIM:188580,Orphanet:ORPHA79102,SNOMED CT:30967002	Thyrotoxic periodic paralysis	germline	17	21702913	AACGGCAAGGTGCACACGCGGCGCAGGTGCCGCAACCGCTTCGTCAAGAAGAATGGCCAGT
80357089	69512	NM_007294.3(BRCA1):c.3331C>T (p.Gln1111Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43092200	AGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACTGTTA
121913593	29217	NM_000530.7(MPZ):c.643C>T (p.Gln215Ter)	MPZ	Sep 01, 1996	MedGen:CN069993	Neuropathy, congenital hypomyelinating, autosomal dominant	germline	1	161306110	CCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGA
758036385	453806	NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter)	CC2D2A	Feb 02, 2017	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005	Joubert syndrome;Meckel-Gruber syndrome	germline	4	15586169	CTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTG
730880099	178699	NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)	FBN1	Mar 23, 2017	MedGen:CN229799;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202;MedGen:CN169374	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome;not provided;not specified	germline	15	48510125	TTACAGAATGGCCGGATCTGCAATAATGGACGCTGCATCAACACAGATGGCAGTTTTCATT
587778080	137376	NM_000051.3(ATM):c.8545C>T (p.Arg2849Ter)	ATM	Aug 21, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	germline	11	108345869	TTCTTGGATCCAGCTATTTGGTTTGAGAAGCGATTGGCTTATACGCGCAGTGTAGCTACTT
1057520537	367062	NM_006302.2(MOGS):c.1801C>T (p.Arg601Ter)	MOGS	Mar 12, 2015	MedGen:CN517202	not provided	germline	2	74461988	CCTTCAGTAACCGAGCGGCACCTGGACCTGCGATGTTGGGTGGCACTGGGTGCCCGTGTGC
1060503584	400415	NM_177438.2(DICER1):c.2233C>T (p.Arg745Ter)	DICER1	Dec 26, 2016	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	germline	14	95111340	AGTGTTCCAGGAAGACCAGGTTCCACGAAACGAAGGCAGTGCTACCCAAAAGCAGTTAGTA
766394024	478020	NM_024675.3(PALB2):c.3130C>T (p.Gln1044Ter)	PALB2	Apr 16, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23614075	TTTTGTTATCTAAGGAATTTAAAAACTGGTCAACTCCTGAAAAAGATGCACATTGATGATT
752059006	264512	NM_014363.5(SACS):c.2182C>T (p.Arg728Ter)	SACS	May 31, 2016	Human Phenotype Ontology:HP:0012443,MedGen:C4021085;MedGen:CN517202	Abnormality of brain morphology;not provided	germline;inherited	13	23353788	GTGGCTGCTTTAAAGGAAGCTGCCCAAACCCGAGGTATTATAGTTTAGTATTCTTTTAAAT
1064793896	405022	NM_000228.2(LAMB3):c.241C>T (p.Arg81Ter)	LAMB3	Aug 07, 2015	MedGen:CN517202	not provided	germline	1	209638591	TCCAGGCAGCCTCACAACTACTACAGTCACCGAGTAGAGAATGTGGCTTCATCCTCCGGCC
267606724	17077	NM_017780.3(CHD7):c.4795C>T (p.Gln1599Ter)	CHD7	Jul 21, 2015	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60841997	GCAAAGCCACGGCGTCCCCAGGATAAGTCACAGGGCTATGCAAGGAGTGAATGTTTCAGGG
1057518236	360146	NM_001271.3(CHD2):c.1462C>T (p.Gln488Ter)	CHD2	Nov 25, 2016	MedGen:CN517202	not provided	germline	15	92949036	GGAGGGGAGAATCTGGAACTTCGAGATTATCAGCTAGAAGGTCTAAACTGGCTAGCTCATT
104894537	22467	NM_002968.2(SALL1):c.826C>T (p.Arg276Ter)	SALL1	Jan 14, 2016	MedGen:CN034849,OMIM:107480	Townes-Brocks syndrome 1	germline	16	51141396	ACATCTTCTAGTCCTTCTCAAGGTACTTTACGAACATCTGCCAACCCCTTGTCCACGCTAA
774906916	414422	NM_001013703.3(EIF2AK4):c.3344C>T (p.Pro1115Leu)	EIF2AK4	-	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	40003301	TGGACCACAGCGGGATGCTGGTGATGCTTCCTTTTGACCTGCGGGTGAGGCTGGGAACACA
587776959	59435	NM_003441.3(ZNF141):c.1421C>T (p.Thr474Ile)	ZNF141	Jun 27, 2013	MedGen:C3808889,OMIM:615226	Postaxial polydactyly type A6	germline	4	373858	CACACCTGAATAAACATAAGAAAATTCATACTTGAGAGAAATCCTACAAATGTAAAGAATG
1085307201	414133	NM_001204.6(BMPR2):c.274C>T (p.Q92*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467545	ATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAA
397515456	75319	NM_020631.4(PLEKHG5):c.1988C>T (p.Thr663Met)	PLEKHG5	Jul 12, 2013	MedGen:C3809309,OMIM:615376,Orphanet:ORPHA369867	Charcot-Marie-Tooth disease, recessive intermediate c	germline	1	6469396	ATGAGTTTCACAGTGCTGTAGGGGCCTACACGTTCCAGGCCAGTGGCCAGGCCTTGTGCCG
137852759	23821	NM_005591.3(MRE11):c.1897C>T (p.Arg633Ter)	MRE11	Jan 19, 2017	MedGen:C1858391,OMIM:604391,Orphanet:ORPHA251347;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome	germline	11	94437206	GCCTTTAAATCTACAAGACAGCAGCCTTCCCGAAATGTCACTACTAAGAATTATTCAGAGG
515726186	136334	NM_015713.4(RRM2B):c.328C>T (p.Arg110Cys)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102225012	TATCTATTTTCCTTATCTTCTTAGGTGGAGCGCTTTAGTCAGGAGGTGCAGGTTCCAGAGG
397509423	75122	NM_013334.3(GMPPB):c.220C>T (p.Arg74Ter)	GMPPB	Jul 11, 2013	MedGen:C3809216,OMIM:615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	germline	3	49723293	GGGGGGGCCTCTTCCTTCCAGCTGGGAATCCGAATCTCCATGTCCCATGAAGAGGAGCCTT
587777321	132604	NM_000856.5(GUCY1A1):c.1045C>T (p.Arg349Ter)	GUCY1A1	Mar 06, 2014	MedGen:C3810403,OMIM:615750,Orphanet:ORPHA401945	Moyamoya disease 6 with achalasia	germline	4	155711210	ATGACTATGTTGAATATGCAGTTTGTTGTACGAGTGAGGAGATGGGACAACTCTGTGAAAA
137852831	15549	NM_001142446.1(ANK1):c.5620C>T (p.Arg1874Ter)	ANK1	May 01, 1998	MedGen:C2674218,OMIM:182900	Spherocytosis type 1	germline	8	41661923	TTCCTTTCCTAGATCATTCGCAAGGTGGTTCGACAGATAGACTTGTCCAGCGCCGATGCCG
1114167469	419820	NM_130799.2(MEN1):c.959C>T (p.Pro320Leu)	MEN1	Aug 26, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	64806322	AGACCTACTATCGGGATGAACACATCTACCCCTACATGTACCTGGCTGGCTACCACTGTCG
11545658	391174	NM_000143.3(FH):c.679C>T (p.Gln227Ter)	FH	Oct 21, 2016	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002	Fumarase deficiency	germline	1	241508662	GCTCTTGATGCAAAATCCAAAGAGTTTGCACAGATCATCAAGATTGGACGTACTCATACTC
886041637	264143	NM_000388.3(CASR):c.1630C>T (p.Arg544Ter)	CASR	Mar 22, 2016	MedGen:CN517202	not provided	germline	3	122282134	GTCCTCCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGA
587784384	170184	NM_006517.4(SLC16A2):c.1111C>T (p.Arg371Cys)	SLC16A2	May 19, 2014	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59;MedGen:CN517202	Allan-Herndon-Dudley syndrome;not provided	germline	X	74525834	GTGTGTATTGGGGCTACCTCAGGCCTTGGGCGTCTTGTGTCAGGCCACATCAGTGACTCCA
1064796758	407852	NM_016628.4(WAC):c.1198C>T (p.Gln400Ter)	WAC	Mar 09, 2017	MedGen:CN517202	not provided	germline	10	28610731	CTTACAGCAGCTGTGACACAAGCCTCACTGCAGTCTATAATTCATAAGTTTCTTACTGCTG
200070245	204639	NM_032436.3(CHAMP1):c.1768C>T (p.Gln590Ter)	CHAMP1	Sep 03, 2015	MedGen:C4225275,OMIM:616579;MedGen:CN232368	Mental retardation, autosomal dominant 40;intellectual disability with severe speech impairment	de novo;germline	13	114325610	GATGAACTACAAATAGATGCCATAGATGATCAAAAATGTGATATTTTGGTTCAGGAAGAAC
121918736	79492	NM_006920.4(SCN1A):c.2782C>T (p.His928Tyr)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo;germline	2	166037907	CTCCCACGCTGGCACATGAATGACTTCTTCCACTCCTTCCTGATTGTGTTCCGCGTGCTGT
886041078	263764	NM_005506.3(SCARB2):c.1270C>T (p.Arg424Ter)	SCARB2	Mar 05, 2015	MedGen:C0751779,OMIM:254900,Orphanet:ORPHA163696	Epilepsy, progressive myoclonic 4, with or without renal failure	germline	4	76163353	AGTGTTCACATTGATAAAGAGACGGCGAGTCGACTGAAGTCTATGATTAACACTACTTTGA
386134155	51288	NM_000096.3(CP):c.643C>T (p.Arg215Ter)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149209349	CTAGATAAAGAAAAAGAAAAACATATTGACCGAGAATTTGTGGTGATGTTTTCTGTGGTGG
188119157	57094	NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter)	LOXHD1	Mar 31, 2017	MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Nonsyndromic hearing loss and deafness;not provided	germline	18	46563166	GGAGATGTGGGTGGCGCAGGCACCAGTGCCCGAGTCTACATGCAGATCTATGGAGAGAAAG
281874681	35794	NM_000495.4(COL4A5):c.1856C>T (p.Pro619Leu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598778	GTTTACCAGGCCTCCCAGGGAATATAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGG
606231473	171707	NM_000760.3(CSF3R):c.922C>T (p.Arg308Cys)	CSF3R	Jun 12, 2014	MedGen:C4310764,OMIM:617014,Orphanet:ORPHA420702;Human Phenotype Ontology:HP:0005541,MedGen:C1853118,Orphanet:ORPHA42738	Neutropenia, severe congenital, 7, autosomal recessive;Severe congenital neutropenia	germline	1	36472313	CTCCCAGCCACGGCCTACACCCTGCAGATACGCTGCATCCGCTGGCCCCTGCCTGGCCACT
748144899	33392	NM_000080.3(CHRNE):c.-96C>T	CHRNE	Apr 01, 1999	MedGen:C1837091,OMIM:608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	germline	17	4903159	AGAGGATTAGGTGACAGTCCCCTAACAGCCCGGAACTAACACCCTCCTCCCCCTCACACAG
137853334	24249	NM_000457.4(HNF4A):c.829C>T (p.Gln277Ter)	HNF4A	Dec 05, 1996	MedGen:C1852093,OMIM:125850	Maturity-onset diabetes of the young,  type 1	germline	20	44419813	CGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATG
80002943	17941	NM_000419.4(ITGA2B):c.2870C>T (p.Ser957Leu)	ITGA2B	Mar 01, 2010	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44374732	AGAGGCCTCTGGATCAGTTTGTGCTGCAGTCGCACGCATGGTTCAACGTGTCCTCCCTCCC
398123935	100484	NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter)	DMD	Mar 07, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32463576	TTATTTTCTTAGCTTTTAGTCAGTGATATTCAGACAATTCAGCCCAGTCTAAACAGTGTCA
80356992	69906	NM_007294.3(BRCA1):c.4612C>T (p.Gln1538Ter)	BRCA1	Apr 04, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43074394	CTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGA
387907104	40050	NM_014797.2(ZBTB24):c.958C>T (p.Arg320Ter)	ZBTB24	Jun 10, 2011	MedGen:C3279748,OMIM:614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	germline	6	109476925	CATGCTTCTGGGGCTCTTCTTCCAGGGGAGCGACCTTTCAAATGTAATGAGTGTGGAAAAG
397514690	59370	NM_000537.3(REN):c.127C>T (p.Arg43Ter)	REN	Feb 01, 2012	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001	Renal dysplasia	germline	1	204162135	AGGATCTTCCTCAAGAGAATGCCCTCAATCCGAGAAAGCCTGAAGGAACGAGGTGTGGACA
111033591	20207	NM_213655.4(WNK1):c.3226C>T (p.Arg1076Ter)	WNK1	Feb 13, 2017	MedGen:C2752089,OMIM:201300;MedGen:CN517202	Hereditary sensory and autonomic neuropathy type IIA;not provided	germline	12	868697	GGAGGTGGAATTTTACCTCAGCGTGTTTACCGAAATCGGCAGGTTGCAGTGGACTTGAATC
200750564	360827	NM_000523.3(HOXD13):c.820C>T (p.Arg274Ter)	HOXD13	Sep 07, 2016	Human Phenotype Ontology:HP:0000047,MedGen:C1691215;Human Phenotype Ontology:HP:0003251,MedGen:C0021364,Orphanet:ORPHA98048,SNOMED CT:2904007;Human Phenotype Ontology:HP:0006159,MedGen:C4021606;Human Phenotype Ontology:HP:0000798,MedGen:C0028960;Human Phenotype Ontology:HP:0010442,MedGen:C2117329;Human Phenotype Ontology:HP:0001159,MedGen:C2117411;MedGen:CN517202	Hypospadias;Male infertility;Mesoaxial hand polydactyly;Oligospermia;Polydactyly;Syndactyly;not provided	germline;unknown	2	176094518	GCTCTAAATCAGCCGGACATGTGCGTCTACCGAAGAGGGAGGAAGAAGAGAGTGCCTTACA
74315303	23461	NM_000396.3(CTSK):c.721C>T (p.Arg241Ter)	CTSK	Dec 02, 2014	MedGen:C0238402,OMIM:265800,Orphanet:ORPHA763,SNOMED CT:89647000	Pyknodysostosis	germline;unknown	1	150799607	AATGAGAAAGCCCTGAAGAGGGCAGTGGCCCGAGTGGGACCTGTCTCTGTGGCCATTGATG
-1	455350	NM_001369.2(DNAH5):c.10858C>T (p.Arg3620Ter)	DNAH5	May 08, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13753247	GGCAAGATCTGGATTAAAAATAAAGAAAGCCGAAATGAACTCCAGGTAATTTGTGTTTTAG
63750192	95283	NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter)	MLH1	Jan 23, 2015	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37040251	GGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACA
864321622	217216	NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter)	UNC80	Jan 07, 2016	Human Phenotype Ontology:HP:0001298,MedGen:C1963101;MedGen:C4225203,OMIM:616801	Encephalopathy;Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	germline	2	209872917	CGGGGACGCTCTCCCATTGTGGGCAACAAGCGAAACCAGAAGCTGCAGTGGAATGCAGCCA
587778801	76788	NM_000142.4(FGFR3):c.597C>T (p.His199=)	FGFR3	Sep 26, 2013	MedGen:C0410529,OMIM:146000,Orphanet:ORPHA429,SNOMED CT:205468002	Hypochondroplasia	not provided	4	1801518	GAAGAACGGCAGGGAGTTCCGCGGCGAGCACCGCATTGGAGGCATCAAGGTGGGCGCGGCG
886041303	264453	NM_004055.4(CAPN5):c.865C>T (p.Arg289Trp)	CAPN5	May 02, 2016	MedGen:CN517202	not provided	de novo;germline	11	77115560	ATGATCCGCCTGCGCAACCCCTGGGGCGAGCGGGAGTGGAACGGGCCCTGGAGTGACACGT
387906932	39517	NM_033517.1(SHANK3):c.3349C>T (p.Arg1117Ter)	SHANK3	Apr 27, 2010	MedGen:C3151380,OMIM:613950	Schizophrenia 15	germline	22	50721182	CCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCCTCCCAGGCGCCCTCCCGGT
878855320	360456	NM_001972.3(ELANE):c.137C>T (p.Ser46Phe)	ELANE	Dec 09, 2016	MedGen:CN517202	not provided	germline	19	852945	CGCGGCCCCACGCGTGGCCCTTCATGGTGTCCCTGCAGCTGCGCGGAGGCCACTTCTGCGG
752097874	260061	NM_019066.4(MAGEL2):c.1996C>T (p.Gln666Ter)	MAGEL2	Aug 09, 2016	MedGen:CN517202	not provided	germline	15	23645747	CAAAAAGCCGTGCAAATCCAGCTACCCCCCCAGCAGGCCCAGGCATCGGGTCCGCAAGCGG
137853930	34285	NM_004750.4(CRLF1):c.413C>T (p.Pro138Leu)	CRLF1	Mar 03, 2011	MedGen:C1848947,OMIM:272430	Cold-induced sweating syndrome 1	not provided	19	18598886	CTCCCCTTCTCCCAGTGCCCCCAGAGAAACCCGTCAACATCAGCTGCTGGTCCAAGAACAT
121912950	32166	NM_080680.2(COL11A2):c.4135C>T (p.Arg1379Ter)	COL11A2	Oct 01, 2004	MedGen:C1861481,OMIM:184840	Stickler syndrome, type 3	germline	6	33167305	GCCCCCTCAAATCTTCAGGGTCAGCAAGGCCGACCTGGAGCTACAGGCCAGGCTGGGCCCC
148865119	210450	NM_000071.2(CBS):c.146C>T (p.Pro49Leu)	CBS	Sep 01, 2017	MedGen:C3150344,OMIM:236200;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not provided	germline;unknown	21	43072048	AGGAGCCCCTGTGGATCCGGCCCGATGCTCCGAGCAGGTGCACCTGGCAGCTGGGCCGGCC
727504867	172515	NM_206933.2(USH2A):c.14248C>T (p.Gln4750Ter)	USH2A	Dec 12, 2013	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215650687	GCCCCCACGTTCCATGTGATCTCTTCTACCCAAGCAGTGGTCAACATCAGTGCCCCTGGGA
1064796972	410364	NM_030632.2(ASXL3):c.4360C>T (p.Gln1454Ter)	ASXL3	Mar 17, 2017	MedGen:CN517202	not provided	germline	18	33744208	CGAAACAGGGCAGATAATTCTGGAAAACCTCAGCAACCACCAGGGGGCTTTGCACCAGCAG
587784258	169346	NM_000430.3(PAFAH1B1):c.265C>T (p.Arg89Ter)	PAFAH1B1	Jan 26, 2017	MedGen:C1843916,OMIM:607432;MedGen:CN517202	Lissencephaly 1;not provided	germline	17	2667064	TTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGC
387906992	39699	NM_133468.4(BMPER):c.925C>T (p.Gln309Ter)	BMPER	Oct 08, 2010	MedGen:C1842691,OMIM:608022,Orphanet:ORPHA66637	Diaphanospondylodysostosis	germline	7	34055301	AAAGTATGCAAATTTGGCAACAAGATTTTCCAGGTATGTCATGAGACAAGCACATGGGAAC
1085307871	415048	NM_006772.2(SYNGAP1):c.472C>T (p.Gln158Ter)	SYNGAP1	Mar 20, 2017	MedGen:CN517202	not provided	germline	6	33432769	CCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACC
137852756	23858	NM_001204.6(BMPR2):c.1297C>T (p.Gln433Ter)	BMPR2	Oct 01, 2008	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:C2750262	Primary pulmonary hypertension;Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia	germline	2	202542331	AAATCCACAGGGGAATCCGTACCAGAGTACCAGATGGCTTTTCAGACAGAGGTTGGAAACC
28939714	21058	NM_004551.2(NDUFS3):c.434C>T (p.Thr145Ile)	NDUFS3	Jan 01, 2004	MedGen:C1838951	Leigh syndrome due to mitochondrial complex I deficiency	germline	11	47582140	TGCGCTTCAACTCACGGATCCGTGTGAAGACCTACACAGATGAGCTGACGCCCATTGAGTC
387906630	38665	NM_001145661.1(GATA2):c.761C>T (p.Pro254Leu)	GATA2	Sep 08, 2011	MedGen:C3280030,OMIM:614172,Orphanet:ORPHA228423	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency	germline	3	128485837	ACCCCATCCCCACCTACCCCTCCTATGTGCCGGCGGCTGCCCACGACTACAGCAGCGGACT
376076886	264005	NM_016343.3(CENPF):c.7219C>T (p.Arg2407Ter)	CENPF	Sep 08, 2016	MedGen:CN517202	not provided	germline	1	214646789	CTGACAAATGAATTACAAAAAGAGCAAGAGCGAATATCTGAATTAGAAATAATAAATTCAT
746217361	224662	NM_004425.3(ECM1):c.727C>T (p.Arg243Ter)	ECM1	Nov 19, 2015	MedGen:C0023795,OMIM:247100,Orphanet:ORPHA530,SNOMED CT:38692000	Lipid proteinosis	germline	1	150511475	CTCTTGCTCTAGTGGGAGGAAGCAATGAGCCGATTCTGTGAGGCCGAGTTCTCGGTCAAGA
587777062	79343	NM_030632.2(ASXL3):c.1396C>T (p.Gln466Ter)	ASXL3	Feb 05, 2013	MedGen:C3809650,OMIM:615485,Orphanet:ORPHA352577	Bainbridge-Ropers syndrome	germline	18	33738800	GAAGAGGTAGAGACTAGTATCTGTGAATGCCAGGATGAAAATCATAAGACAATACCTGAAT
587783037	166249	NM_000057.3(BLM):c.3415C>T (p.Arg1139Ter)	BLM	Jul 21, 2016	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006	Bloom syndrome	germline	15	90803577	GGTATATTTGGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACTTTTTAAAAAGC
63751017	94786	NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter)	MSH6	Oct 03, 2017	Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1833477,OMIM:614350;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Endometrial carcinoma;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided	germline;unknown	2	47800714	CGTTTTCCTGATTTGACTGTAGAATTGAACCGATGGGATACAGCCTTTGACCATGAAAAGG
1057524203	368694	NM_001723.5(DST):c.7543C>T (p.Gln2515Ter)	DST	Dec 13, 2016	MedGen:CN517202	not provided	germline	6	56615924	CATAGAGGCCTGGTTGATGAGGGGTTTGCCCAGCAGCTGCGACAGTGTGAATTAGTAATCA
-1	447368	NM_000530.7(MPZ):c.256C>T (p.Gln86Ter)	MPZ	Jul 11, 2017	MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009	Charcot-Marie-Tooth disease, type I	germline	1	161306900	TCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCA
775104326	259764	NM_001904.3(CTNNB1):c.283C>T (p.Arg95Ter)	CTNNB1	Jul 08, 2016	MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473;MedGen:CN517202	Mental retardation, autosomal dominant 19;not provided	de novo;germline	3	41224995	CAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATG
724159962	171921	NM_032228.5(FAR1):c.787C>T (p.Arg263Ter)	FAR1	Nov 06, 2014	MedGen:C4015344,OMIM:616154,Orphanet:ORPHA438178	Peroxisomal fatty acyl-coa reductase 1 disorder	germline	11	13711946	ATTTCAACAAAGGCAGGGAAAGGAATTCTTCGAACAATACGTGCCTCCAACAATGCCCTTG
387907174	40308	NM_000428.2(LTBP2):c.4855C>T (p.Gln1619Ter)	LTBP2	Jan 01, 2011	MedGen:C1562061,OMIM:251750,SNOMED CT:416671000	Microspherophakia	germline	14	74503252	TGCTGCTGCCAGGACGGCGAGGCCTGGAGCCAGCAGTGTGCTCTGTGTCCCCCGAGGAGCT
80359170	67430	NM_000059.3(BRCA2):c.9148C>T (p.Gln3050Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:CN517202	Breast-ovarian cancer, familial 2;not provided	germline;unknown	13	32380037	GTTTCAGATGAAATTTTATTTCAGATTTACCAGCCACGGGAGCCCCTTCACTTCAGCAAAT
121434377	17324	NM_015046.5(SETX):c.2602C>T (p.Gln868Ter)	SETX	Mar 01, 2004	MedGen:C1853761,OMIM:606002	Spinocerebellar ataxia autosomal recessive 1	germline	9	132328996	TCTCAAAACAATGTATTGCCAAAAGAGAAACAATTAAAGAATGAAGAATTAGTTATTTTCT
281875189	38972	NM_003070.4(SMARCA2):c.3602C>T (p.Ala1201Val)	SMARCA2	May 10, 2016	MedGen:C1303073,OMIM:601358,Orphanet:ORPHA3051,SNOMED CT:401046009;MedGen:CN517202	Nicolaides-Baraitser syndrome;not provided	germline	9	2115967	AGCTGAACGTGGATCAGAAAGTGATCCAGGCGGGCATGTTTGACCAAAAGTCTTCAAGCCA
28941774	18791	NM_000375.2(UROS):c.197C>T (p.Ala66Val)	UROS	Sep 12, 2013	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125815081	ACGGGGGACTCATTTTTACCAGCCCCAGAGCAGTGGAAGCAGCAGAGTTATGTTTGGAGCA
312262801	49690	NM_024408.3(NOTCH2):c.6007C>T (p.Arg2003Ter)	NOTCH2	Sep 06, 2016	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629;MedGen:C0917715,OMIM:102500,SNOMED CT:63122002	Alagille syndrome 2;Hajdu-Cheney syndrome	germline	1	119917685	ACTCTTTTGTTGTTGAAAAATGGGGCCAACCGAGACATGCAGGACAACAAGGTACAGTTTG
63750687	125778	NM_000021.3(PSEN1):c.1141C>T (p.Leu381Phe)	PSEN1	Jan 01, 2014	MedGen:C4015782	Alzheimer disease familial 3, with spastic paraparesis	germline	14	73217137	TGTAACCTTTCCTTTTTAGGGGGAGTAAAACTTGGATTGGGAGATTTCATTTTCTACAGTG
724159969	172080	NM_001142415.1(AIMP1):c.115C>T (p.Gln39Ter)	AIMP1	Aug 01, 2014	MedGen:C1850053,OMIM:260600,Orphanet:ORPHA280293	Leukodystrophy, hypomyelinating 3	germline	4	106327456	TTTAACTGGATGTTCTTGATCCTAGTTTTGCAGGCAACTTTGAGGGAAGAGAAGAAACTTC
28933693	24476	NM_000023.3(SGCA):c.229C>T (p.Arg77Cys)	SGCA	Jul 17, 2017	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2D;not provided	germline;unknown	17	50167653	CAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTG
548728088	166403	NM_022082.3(SLC17A9):c.25C>T (p.Arg9Cys)	SLC17A9	Oct 01, 2014	MedGen:C4015128,OMIM:616063	Porokeratosis 8, disseminated superficial actinic type	germline	20	62952855	AGCCCGATGCAGCCACCCCCAGACGAGGCCCGCAGGGACATGGCCGGGGACACCCAGTGGT
121918109	28410	NM_001042465.2(PSAP):c.1297C>T (p.Gln433Ter)	PSAP	Jul 01, 2005	MedGen:C1864651,OMIM:610539,Orphanet:ORPHA309252	Gaucher disease, atypical, due to saposin C deficiency	germline	10	71819527	GATCGCAACCTGGAGAAAAACAGCACCAAGCAGGAGATCCTGGCTGCTCTTGAGAAAGGCT
727504936	173511	NM_194248.2(OTOF):c.2818C>T (p.Gln940Ter)	OTOF	Jan 30, 2014	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	2	26476176	CCCTGTGGCTTCCAGGAGGTCAAGGCAGCCCAGGGCCTGGGCCTGCATGCCTTCCCACCCG
879255667	247665	NM_144997.5(FLCN):c.853C>T (p.Gln285Ter)	FLCN	Nov 28, 2016	MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001	Multiple fibrofolliculomas	germline	17	17221555	GAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGGGG
869312707	225881	NM_015335.4(MED13L):c.6485C>T (p.Thr2162Met)	MED13L	Dec 10, 2015	MedGen:C4225208,OMIM:616789,Orphanet:ORPHA369891	Mental retardation and distinctive facial features with or without cardiac defects	de novo	12	115963422	GGGTTCCACACCCTCTTGACTCCAAAACCACGTCGGATGTTTTAAGGTAGATACCAACCTA
199476202	47858	NM_207352.3(CYP4V2):c.1187C>T (p.Pro396Leu)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186208961	AGGAGACCCTTCGCCTTTTTCCTTCTGTTCCTTTATTTGCCCGTAGTGTTAGTGAAGATTG
753376100	361064	NM_153638.3(PANK2):c.1069C>T (p.Arg357Trp)	PANK2	Apr 01, 2015	Human Phenotype Ontology:HP:0002180,MedGen:C0027746	Neurodegeneration	unknown	20	3910664	TTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTG
375424292	270639	NM_003235.4(TG):c.6379C>T (p.Arg2127Ter)	TG	Mar 01, 2016	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	Iodotyrosyl coupling defect	germline	8	133012017	ACTGCTGCCACCAGCAATTTCTCTGCTGTCCGAGACCTCTGTTTGTCGGGTAAGGGGAGTT
137854592	25968	NM_000397.3(CYBB):c.676C>T (p.Arg226Ter)	CYBB	Jun 09, 2017	MedGen:C1844376,OMIM:306400;MedGen:CN517202	Chronic granulomatous disease, X-linked;not provided	germline;maternal;unknown	X	37798956	AATGATCTGGACTTACATTTTTCACCCAGACGAATTGTACGTGGGCAGACCGCAGAGAGTT
727503860	176991	NM_017780.3(CHD7):c.1090C>T (p.Gln364Ter)	CHD7	Feb 18, 2014	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60742522	CCATCAAACAGTGGTCAAGGACTAATGCACCAGCAGCCCATCCACCCCAGTGGCTCACTTA
587783016	166166	NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter)	CEP290	Feb 23, 2015	MedGen:C1857780,OMIM:610188;MedGen:C1857821,OMIM:611755	Joubert syndrome 5;Leber congenital amaurosis 10	unknown	12	88089157	CAACTACAAAATGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATA
758081262	397861	NM_000051.3(ATM):c.2554C>T (p.Gln852Ter)	ATM	Oct 12, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108267258	ACTAATGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTATTTAACGATTACC
869312994	226860	NM_000048.3(ASL):c.1360C>T (p.Gln454Ter)	ASL	-	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66092877	GCGCGCTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAGGCACAGCAGG
587777683	153865	NM_019105.6(TNXB):c.9764C>T (p.Thr3255Ile)	TNXB	Jul 01, 2013	MedGen:C4014831,OMIM:615963	Vesicoureteral reflux 8	germline	6	32048638	CTGCTCTGCTCTTTTCAGCGCCCCTGCCCACACCACTGCCGGTGGAGCCCCGCCTGGGGGA
137852595	24891	NM_000044.4(AR):c.2137C>T (p.Leu713Phe)	AR	Nov 01, 1997	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711653	TCTAGCCTCAATGAACTGGGAGAGAGACAGCTTGTACACGTGGTCAAGTGGGCCAAGGCCT
121907950	18994	NM_000062.2(SERPING1):c.1394C>T (p.Ala465Val)	SERPING1	Mar 01, 1995	MedGen:CN068781	Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor	germline	11	57614472	AGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCA
74315285	19420	NM_057176.2(BSND):c.22C>T (p.Arg8Trp)	BSND	Nov 01, 2001	MedGen:C1865270,OMIM:602522	Bartter syndrome type 4	germline	1	54999208	CAGGCAGCCATGGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCC
1131692255	424410	NM_003901.3(SGPL1):c.664C>T (p.Arg222Trp)	SGPL1	Jul 21, 2017	MedGen:CN339707,OMIM:617575	NEPHROTIC SYNDROME 14	germline	10	70868393	GAAAGCATACTGATGGCCTGCAAAGCATATCGGGATCTGGCCTTTGAGAAGGGGATCAAAA
35859650	33311	NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp)	AMPD1	Jul 07, 2017	MedGen:C0268123,OMIM:615511,SNOMED CT:9105005;MedGen:CN517202	Muscle AMP deaminase deficiency;not provided	germline	1	114677972	AAATATAATCCTGTAGGAGCAAGTGAGCTACGGGACCTCTACTTGAAGACAGACAATTACA
779575307	433672	NM_006726.4(LRBA):c.2479C>T (p.Arg827Ter)	LRBA	Jan 07, 2017	MedGen:CN169374	not specified	germline	4	150868276	GAGATACTAAAAGTAATTGCGACCCTACTTCGAAATTCTCCCCAGTGCCCAGAGAGCATGG
387906597	38570	NM_001202.5(BMP4):c.592C>T (p.Arg198Ter)	BMP4	Oct 01, 2011	MedGen:C1864689,OMIM:607932,Orphanet:ORPHA139471;MedGen:C2677434,OMIM:600625	Microphthalmia syndromic 6;Orofacial cleft 11	germline	14	53950667	GCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACA
886039506	259914	NM_000118.3(ENG):c.277C>T (p.Arg93Ter)	ENG	Jul 11, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN517202	Osler hemorrhagic telangiectasia syndrome;not provided	germline	9	127829770	CAGGCATCCAAGCAAAATGGCACCTGGCCCCGAGAGGTGCTTCTGGTCCTCAGTGTAAACA
121908337	19771	NM_007078.2(LDB3):c.617C>T (p.Thr206Ile)	LDB3	Dec 03, 2003	MedGen:C1832244,OMIM:601493	Dilated cardiomyopathy 1C	germline	10	86681731	ACAACCCCATTGGCCTGTACTCGGCAGAGACCCTGAGGGAGATGGCTCAGATGTACCAGAT
104893940	17427	NM_000045.3(ARG1):c.871C>T (p.Arg291Ter)	ARG1	Jun 01, 1992	MedGen:C0268548,OMIM:207800,Orphanet:ORPHA90,SNOMED CT:23501004	Arginase deficiency	germline	6	131583810	TCCCTGGGGAAGACACCAGAAGAAGTAACTCGAACAGTGAACACAGCAGTTGCAATAACCT
369296618	200226	NM_052845.3(MMAB):c.700C>T (p.Gln234Ter)	MMAB	Oct 10, 2016	MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311;MedGen:CN517202	Methylmalonic aciduria cblB type;not provided	germline	12	109557081	GCCAGATATGCAGCCATGAAGGAGGGGAATCAAGAGAAAATATACATGAAAAATGACCCAT
281865112	39634	NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter)	HPS6	Dec 01, 2009	MedGen:C3888007,OMIM:614075	Hermansky-Pudlak syndrome 6	germline	10	102066708	CTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCA
796053138	405354	NM_021007.2(SCN2A):c.4303C>T (p.Arg1435Ter)	SCN2A	Jan 01, 2018	MedGen:C3150987,OMIM:613721;MedGen:CN517202	Early infantile epileptic encephalopathy 11;not provided	germline;unknown	2	165377645	ATGGATATTATGTATGCAGCTGTTGATTCACGAAATGTAAGTCTAGTTAGAGGGAAATTGT
1057519732	362860	NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser)	MAP2K1	Dec 28, 2016	MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:CN517202	Colorectal Neoplasms;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Transitional cell carcinoma of the bladder;not provided	germline;somatic	15	66436824	GAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCT
397515506	76423	m.14568C>T	MT-ND6	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	14568	AATTCAGAATAATAACACACCCGACCACACCGCTAACAATCAATACTAAACCCCCATAAAT
397514383	36376	NM_000060.4(BTD):c.757C>T (p.Pro253Ser)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644613	TTCACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAGG
199422293	47707	NM_198253.2(TERT):c.1456C>T (p.Arg486Cys)	TERT	May 10, 2012	MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000	Idiopathic fibrosing alveolitis, chronic form	not provided	5	1293430	GGCCTCTGGGGCTCCAGGCACAACGAACGCCGCTTCCTCAGGAACACCAAGAAGTTCATCT
397518413	94253	NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys)	SMAD4	Aug 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005;MedGen:C0796081,OMIM:139210,Orphanet:ORPHA2588;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome;Myhre syndrome;not provided	germline;unknown	18	51078294	GCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATGAGTTTTG
79633941	22243	NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter)	CFTR	Jun 07, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202	Cystic fibrosis;not provided	germline;unknown	7	117603542	ATTTCCTATTTGCTTTACAGCACTCCTCTTCAAGACAAAGGGAATAGTACTCATAGTAGAA
1057524732	367380	NM_032682.5(FOXP1):c.574C>T (p.Gln192Ter)	FOXP1	Feb 03, 2017	MedGen:CN517202	not provided	germline	3	71047032	CAGCAGCAGCTTTTACAGATGCAGCAGTTACAGCAGCAGCACCTCCTGTCTTTGCAGCGCC
61750071	106206	NM_000552.4(VWF):c.4120C>T (p.Arg1374Cys)	VWF	Feb 16, 2017	MedGen:CN517202	not provided	germline	12	6019298	ACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCACCCTGCTCC
121434444	21848	NM_004984.3(KIF5A):c.1082C>T (p.Ala361Val)	KIF5A	Feb 01, 2006	MedGen:C1858712,OMIM:604187,Orphanet:ORPHA100991	Spastic paraplegia 10	germline	12	57569648	AGAAGACAAAGGCCCAGAAGGAGACGATTGCGAAGCTGGAGGCTGAGCTGAGCCGGTGGCG
762250680	243799	NM_004006.2(DMD):c.4870C>T (p.Gln1624Ter)	DMD	May 18, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32365175	TCACAGGCTACTCAAAAAGAGATTGAGAAACAGAAGGTGCACCTGAAGAGTATCACAGAGG
1060500053	403123	NM_000891.2(KCNJ2):c.682C>T (p.Arg228Ter)	KCNJ2	May 12, 2017	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008	Andersen Tawil syndrome	germline	17	70175721	CGGAAAAGCCACTTGGTGGAAGCTCATGTTCGAGCACAGCTCCTCAAATCCAGAATTACTT
121908278	28429	NM_000207.2(INS):c.16C>T (p.Arg6Cys)	INS	Apr 01, 2008	MedGen:C3150617,OMIM:613370	Maturity-onset diabetes of the young, type 10	germline	11	2160956	CACTGTCCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCGCTGCTGGCCC
201038679	186891	NM_000053.3(ATP7B):c.2975C>T (p.Pro992Leu)	ATP7B	Dec 27, 2015	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline;unknown	13	51946369	CCTGCCCCTGCTCCCTGGGGCTGGCCACGCCCACGGCTGTCATGGTGGGCACCGGGGTGGC
104894789	471457	NM_004006.2(DMD):c.9928C>T (p.Gln3310Ter)	DMD	Jul 11, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31182784	AGAGTGGCTGCTGCAGAAACTGCCAAGCATCAGGCCAAATGTAACATCTGCAAAGAGTGTC
397518481	94341	NM_000965.4(RARB):c.355C>T (p.Arg119Ter)	RARB	Oct 03, 2013	MedGen:C3809803,OMIM:615524	Microphthalmia, syndromic 12	germline	3	25501230	ATTCAGAAGAATATGATTTACACTTGTCACCGAGATAAGAACTGTGTTATTAATAAAGTCA
138149179	47475	NM_000282.3(PCCA):c.937C>T (p.Arg313Ter)	PCCA	Jul 03, 2013	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100273218	ATATGTAGCATTTTTTTGGATGCGGAGACTCGAAGAGCGATGGGAGAACAAGCTGTAGCTC
202128397	178865	NM_173689.6(CRB2):c.1882C>T (p.Arg628Cys)	CRB2	Jan 08, 2015	MedGen:C4015555,OMIM:616220	Focal segmental glomerulosclerosis 9	germline	9	123370935	GGGTCCTGTGTGGATCTGTGGACTCATTTCCGTTGCGACTGTGCCCGGCCCCATAGAGGTC
121908082	19081	NM_000547.5(TPO):c.1618C>T (p.Arg540Ter)	TPO	Jun 01, 1996	MedGen:C1291299,OMIM:274500,SNOMED CT:124204003	Deficiency of iodide peroxidase	germline	2	1487841	TATTTTCCAGGTGGTTTGGACCCACTAATACGAGGCCTTCTTGCAAGACCAGCCAAACTGC
730881633	180947	NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter)	BRIP1	Jun 26, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	61801327	AAACTAAAGGCCTGTCCATATTACACAGCCCGAGAACTAATACAAGATGCTGACATCATAT
137853141	20755	NM_006424.2(SLC34A2):c.226C>T (p.Gln76Ter)	SLC34A2	Oct 01, 2006	MedGen:C0155912,OMIM:265100,Orphanet:ORPHA60025,SNOMED CT:87153008	PULMONARY ALVEOLAR MICROLITHIASIS	germline	4	25662818	GTGGATGACCCCTGGAACCTACCCACTCTTCAGGACTCGGGGATCAAGTGGTCAGGTAAAA
45517258	27443	NM_000548.4(TSC2):c.2713C>T (p.Arg905Trp)	TSC2	Feb 16, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2076141	ATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGG
754477154	211377	NM_175073.2(APTX):c.667C>T (p.Leu223Phe)	APTX	Jul 18, 2012	MedGen:CN517202	not provided	germline	9	32984734	CTGAAGGCTGTGGCCAGGGAACACCTTGAACTCCTTAAGCATATGCACACTGTGGGGGAAA
398123014	49928	NM_020944.2(GBA2):c.1018C>T (p.Arg340Ter)	GBA2	Apr 04, 2013	MedGen:C2828721,OMIM:614409,Orphanet:ORPHA320391	Spastic paraplegia 46, autosomal recessive	germline	9	35740833	CCAAACCCCTACACGATGGCTGTGGCTGCACGAGTCACGGTAAGGAAAGAGCCTGCCCTAT
80358200	23760	NM_005267.4(GJA8):c.262C>T (p.Pro88Ser)	GJA8	Mar 01, 1998	MedGen:C1861828,OMIM:116200	Cataract 1	germline	1	147908217	TGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGC
72653791	426941	NM_001171.5(ABCC6):c.2342C>T (p.Ala781Val)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178871	CAGCTGTGTACCTGCTGGATGACCCCCTGGCGGCCCTGGATGCCCACGTTGGCCAGCATGT
121908766	22215	NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter)	CFTR	Dec 08, 2016	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117627765	GAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAGGGTGAGATTTGAACACTGCTTGCTTT
121434573	31610	NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter)	ERCC5	Mar 01, 2001	MedGen:C1968561	Xeroderma pigmentosum group g/Cockayne syndrome	germline	13	102856110	CAAGAAAGAATGAATCAAAAACAAGCATTACAGGTATTTAGATCATTTTTGAATTCAGAAT
397516005	51860	NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)	MYBPC3	Dec 08, 2015	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47333566	AACATGGAGGACAAGGCCACGCTGGTGCTGCAGGTTGTTGGTGCGTGGCCAAGGCCTCCTT
797045769	207239	NM_133433.3(NIPBL):c.5044C>T (p.Arg1682Ter)	NIPBL	Apr 29, 2015	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37020492	TCTCGTAAATTCTATATAGCCCAGTGGTTTCGAGACACAACTCTGGAAACAGAAAAAGCAA
1064793717	410584	NM_000540.2(RYR1):c.4672C>T (p.Gln1558Ter)	RYR1	Jun 09, 2015	MedGen:CN517202	not provided	germline	19	38483078	TTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGC
104894740	26232	NM_139058.2(ARX):c.1117C>T (p.Gln373Ter)	ARX	Nov 01, 2002	MedGen:C1846171,OMIM:300215,Orphanet:ORPHA452	Lissencephaly 2, X-linked	germline	X	25010262	ATGAGGCTGGACTTGACCGAGGCCCGAGTCCAGGTGAGCTGCACAACAGAGGGAAGAGGGA
137852356	25127	NM_000132.3(F8):c.6403C>T (p.Arg2135Ter)	F8	Nov 27, 1986	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154896103	AGTCTTGATGGGAAGAAGTGGCAGACTTATCGAGGAAATTCCACTGGAACCTTAATGGTAT
1085307131	413918	NM_031296.2(RAB33B):c.490C>T (p.Gln164Ter)	RAB33B	May 09, 2017	MedGen:C3714896,OMIM:615222	Smith-McCort dysplasia 2	germline	4	139472926	AGTGCCATACAGGTACCCACAGACTTGGCACAAAAATTTGCTGACACACACAGTATGCCTT
74315497	18330	NM_000268.3(NF2):c.958C>T (p.Gln320Ter)	NF2	Aug 01, 1994	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29668405	AGAAGGAAAGCCGATTCTTTGGAAGTTCAGCAGATGAAAGCCCAGGCCAGGGAGGAGAAGG
1057520750	367333	NM_003722.4(TP63):c.547C>T (p.Gln183Ter)	TP63	May 22, 2015	MedGen:CN517202	not provided	germline	3	189808494	GGCCCGCACAGTTTCGACGTGTCCTTCCAGCAGTCGAGCACCGCCAAGTCGGCCACCTGGA
-1	434903	NM_001009944.2(PKD1):c.8704C>T (p.Gln2902Ter)	PKD1	Aug 02, 2016	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008;MedGen:CN517202	Polycystic kidney disease, adult type;not provided	germline;unknown	16	2103353	AACTCCGCCAACTCCGTTGTGGTCCAGCCCCAGGCCTCCGTCGGTGCTGTGGTCACCCTGG
104894562	23796	NM_003593.2(FOXN1):c.763C>T (p.Arg255Ter)	FOXN1	Jun 01, 2011	MedGen:C1866426,OMIM:601705,Orphanet:ORPHA169095	T-cell immunodeficiency, congenital alopecia and nail dystrophy	germline	17	28529157	TACCTGGGCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCCAGCACCGATGGGC
267606740	18691	NM_015386.2(COG4):c.2197C>T (p.Arg733Trp)	COG4	Sep 01, 2009	MedGen:C3150736,OMIM:613489,Orphanet:ORPHA263501	Congenital disorder of glycosylation type 2J	germline	16	70481397	ACCACCTGGACCATCCGAGACAAGTTTGCCCGGCTCTCCCAGATGGCCACCATCCTCAATC
886044003	273012	NM_001029883.2(C2orf71):c.1828C>T (p.Gln610Ter)	C2orf71	Jul 12, 2016	MedGen:C3150691,OMIM:613428	Retinitis pigmentosa 54	germline	2	29072434	CTCCAGAGTCACGTGGAGGACCCCACCTTTCAGGAGCTGCGAAGGGTCCAGAGGGACCTCA
886041354	264564	NM_001360.2(DHCR7):c.740C>T (p.Ala247Val)	DHCR7	Nov 10, 2016	MedGen:CN517202	not provided	germline	11	71438970	TGTTCTTCAATGGGCGCCCCGGGATCGTCGCCTGGACCCTCATCAACCTGTCCTTCGCAGC
-1	481698	NM_000094.3(COL7A1):c.751C>T (p.Gln251Ter)	COL7A1	May 08, 2017	MedGen:CN517202	not provided	germline	3	48592870	TCTGAGCCAAGCAGCCAATCCTTGAGAGTACAGTGGACAGCGGCCAGTGGCCCTGTGACTG
-1	429423	NM_003482.3(KMT2D):c.5269C>T (p.Arg1757Ter)	KMT2D	Sep 28, 2016	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49043918	GAAGGGGATGAGAAGAAGAAGCAACAGCGGCGAGGGCGCAAGAAGAGCAAACTGGAGGACA
121964863	27352	NM_001014796.1(DDR2):c.2254C>T (p.Arg752Cys)	DDR2	Jun 01, 2010	MedGen:C1849011,OMIM:271665,Orphanet:ORPHA93358	Spondylometaepiphyseal dysplasia short limb-hand type	germline	1	162776341	CGGATCCAGGGCCGGGCAGTGCTCCCTATCCGCTGGATGTCTTGGGAGAGTATCTTGCTGG
1057519293	361795	NM_022089.3(ATP13A2):c.1345C>T (p.Arg449Ter)	ATP13A2	Feb 01, 2017	MedGen:C4310662,OMIM:617225	Spastic paraplegia 78, autosomal recessive	germline	1	16996262	GGCACCATCTACAGCATCTTCATCCTCTACCGAAACCGGGTAAGCCTTGGGGGTGGGGTGG
119103290	17539	NM_000127.2(EXT1):c.1018C>T (p.Arg340Cys)	EXT1	Aug 19, 2016	Human Phenotype Ontology:HP:0002762,MedGen:C0015306,OMIM:133700,SNOMED CT:254044004;MedGen:CN517202	Multiple congenital exostosis;not provided	germline	8	117837146	AATGCCACTTTCTGTCTGGTTCCTCGTGGTCGCAGGCTTGGGTCCTTCAGATTCCTGGAGG
794726752	187738	NM_001165963.1(SCN1A):c.4573C>T (p.Arg1525Ter)	SCN1A	Jun 29, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	165996021	GGATCGAAAAAACCGCAAAAGCCTATACCTCGACCAGGAGTAAGAAGTATCAAATGATATG
768248216	248884	NM_177438.2(DICER1):c.832C>T (p.Leu278Phe)	DICER1	Nov 10, 2014	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	somatic	14	95126651	GAAAGACTGCTGATGGAATTAGAAGAAGCACTTAATTTTATCAATGATTGTAATATATCTG
119486096	20060	NM_004897.4(MINPP1):c.122C>T (p.Ser41Leu)	MINPP1	Apr 01, 2001	Human Phenotype Ontology:HP:0006731,MedGen:C0206682,OMIM:188470	Thyroid cancer, follicular	somatic	10	87505037	CTCTTCTAGAGCCGAGGGACCCGGTGGCCTCGTCGCTCAGCCCCTATTTCGGCACCAAGAC
587783975	168444	NM_133433.3(NIPBL):c.5455C>T (p.Arg1819Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37022271	TAGCTTGATATGCAACGAGGTGTTCATGGACGATTGATGGATAATTCGACTAGTGTCCGAG
760429286	445221	NM_000359.2(TGM1):c.232C>T (p.Arg78Ter)	TGM1	Jul 06, 2017	MedGen:CN517202	not provided	germline	14	24262121	TCCAGGGGTCGAGGGTCCAGCTCTGGCACTCGAAGACCTGGCTCCCGGGGCTCAGACTCCC
1135401736	362555	NM_001037.4(SCN1B):c.373C>T (p.Arg125Cys)	SCN1B	Feb 17, 2017	MedGen:CN240662,OMIM:617350	Epileptic encephalopathy, early infantile, 52	germline	19	35033664	CACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACA
587781967	151440	NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter)	ATM	Feb 20, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	11	108335878	CGTGATGACCTGAGACAAGATGCTGTCATGCAACAGGTCTTCCAGATGTGTAATACATTAC
104894801	26747	NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu)	EFNB1	Oct 27, 2015	MedGen:C0220767,OMIM:304110;MedGen:CN517202	Craniofrontonasal dysplasia;not provided	germline	X	68838649	TCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATCATCTG
765815516	358297	NM_002225.3(IVD):c.241C>T (p.Arg81Ter)	IVD	Nov 23, 2016	MedGen:C0268575,OMIM:243500,Orphanet:ORPHA33,SNOMED CT:87827003;MedGen:CN517202	Isovaleryl-CoA dehydrogenase deficiency;not provided	germline;unknown	15	40407723	ATCGATCGCAGCAATGAGTTCAAGAACCTGCGAGTGAGTTGGGAGGTCCGGGCAGTCGGGG
724159953	171873	NM_001396.3(DYRK1A):c.1309C>T (p.Arg437Ter)	DYRK1A	Nov 17, 2016	MedGen:C3276611;Human Phenotype Ontology:HP:0000490,MedGen:C0014306;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:CN517202	Absent or delayed speech development;Deeply set eye;Feeding difficulties;Intellectual disability;Mental retardation, autosomal dominant 7;Microcephaly;Seizures;not provided	germline;unknown	21	37505352	CTTGGAGTGGAAACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCATACGGTCG
786201090	185520	NM_000455.4(STK11):c.910C>T (p.Arg304Trp)	STK11	Apr 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:ORPHA2869,SNOMED CT:54411001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided	germline;somatic	19	1221996	CCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCA
267607141	21265	NM_002420.5(TRPM1):c.31C>T (p.Gln11Ter)	TRPM1	Nov 01, 2009	MedGen:C2750747,OMIM:613216	Congenital stationary night blindness, type 1C	germline	15	31070213	TTTGCCTTTGTTTTCAGGTGTTGCTGTGGCCAGTTCACCAACCAGCATATCCCCCCTCTGC
745797941	233420	NM_005732.3(RAD50):c.3454C>T (p.Arg1152Ter)	RAD50	Dec 14, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132637179	GAAATCAATAAAATTATACGTGACCTGTGGCGAAGTACCTATCGTGGACAAGGTGAGTACC
397515479	76969	NM_006397.2(RNASEH2A):c.75C>T (p.Arg25=)	RNASEH2A	Nov 22, 2016	MedGen:C1835912,OMIM:610333	Aicardi Goutieres syndrome 4	germline	19	12806748	CCTGAGTTCGCCTGTGCCCGCGGTGTGCCGCAAGGAGCCTTGCGTCCTGGGCGTCGATGAG
267607063	16165	NM_015139.2(SLC35D1):c.319C>T (p.Arg107Ter)	SLC35D1	Aug 01, 2009	MedGen:C0432194,OMIM:269250,Orphanet:ORPHA3144,SNOMED CT:254049009	Schneckenbecken dysplasia	germline	1	67052776	AAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTA
367543028	51233	NM_000057.3(BLM):c.2098C>T (p.Gln700Ter)	BLM	Sep 07, 2017	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006;MedGen:CN517202	Bloom syndrome;not provided	germline;unknown	15	90765319	CTTTCAGGAGGTGGTAAGAGTTTGTGTTACCAGCTCCCTGCCTGTGTTTCTCCTGGGGTCA
606231451	171039	NM_001114748.1(TMEM240):c.509C>T (p.Pro170Leu)	TMEM240	Jun 08, 2017	MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773;MedGen:CN517202	Spinocerebellar ataxia 21;not provided	germline	1	1535372	AGAAACTCTACCACAATGGCCACCCCAGCCCGCGGCACCTGTGAGCCGCACGGGGACTTAC
267607055	19139	NM_000112.3(SLC26A2):c.398C>T (p.Ala133Val)	SLC26A2	Nov 15, 2008	MedGen:C0220726,OMIM:222600,Orphanet:ORPHA628,SNOMED CT:58561002	Diastrophic dysplasia	germline	5	149978050	TGCCCCAGTCCATTGCTTATTCCCTGCTGGCTGGCCAAGAACCTGTCTATGGTCTGTACAC
622288	432466	NM_018116.3(MSTO1):c.971C>T (p.Thr324Ile)	MSTO1	Sep 22, 2017	MedGen:CN484737,OMIM:617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	germline	1	155612848	GTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGC
1085307398	414364	NM_001204.6(BMPR2):c.2626C>T (p.Q876*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202556291	GAGCATGAGCCTTTACTGAGACGAGAGCAACAAGCTGGCCATGATGAAGGTGTTCTGGATC
387906886	39372	NM_016219.4(MAN1B1):c.1000C>T (p.Arg334Cys)	MAN1B1	Jul 15, 2011	MedGen:C3280127,OMIM:614202	Mental retardation, autosomal recessive 15	germline	9	137101088	GTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACC
587783295	167765	NM_018136.4(ASPM):c.9910C>T (p.Arg3304Ter)	ASPM	May 16, 2017	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197090004	GGAGCAATTTCTAAAATATTTGTTTTGATCCGAAGTTGTAATCGCAGTATTCCTTGTATGG
1060502040	397312	NM_004612.3(TGFBR1):c.469C>T (p.Arg157Ter)	TGFBR1	Apr 21, 2016	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	9	99132634	ATCTGCCACAACCGCACTGTCATTCACCATCGAGTGCCAAATGAAGAGGACCCTTCATTAG
121917741	28162	NM_000537.3(REN):c.145C>T (p.Arg49Ter)	REN	Sep 01, 2005	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001	Renal dysplasia	germline	1	204162117	ATGCCCTCAATCCGAGAAAGCCTGAAGGAACGAGGTGTGGACATGGCCAGGCTTGGTCCCG
121909324	23546	NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter)	CACNA1A	Jul 13, 1999	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Episodic ataxia type 2	germline	19	13255217	GATTTCGCCATCAGCGCCAAGCCGCTGACCCGACACATGCCGCAGAACAAGCAGAGCTTCC
80356790	24104	NM_001876.3(CPT1A):c.1241C>T (p.Ala414Val)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline	11	68781882	ATAAGCAGTCTCTTGATGCTGTGGAGAAAGCAGCGTTCTTTGTGACGTTAGATGAAACTGA
775196743	415214	NM_000494.3(COL17A1):c.25C>T (p.Arg9Ter)	COL17A1	Oct 27, 2017	MedGen:CN517202	not provided	germline	10	104080649	TATGGTATGGATGTAACCAAGAAAAACAAACGAGATGGAACTGAAGTCACTGAGAGAAGTA
587780490	136119	NM_133378.4(TTN):c.5047C>T (p.Arg1683Ter)	TTN	Dec 23, 2013	MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609	Distal myopathy Markesbery-Griggs type	germline	2	178776817	GCAGCCCCAGAACTGGAGCCCCTCCATTTGCGATATGGCCAAGAGCAATGGGAAGAAGGTG
587777599	152776	NM_004697.4(PRPF4):c.944C>T (p.Pro315Leu)	PRPF4	Jun 01, 2014	MedGen:C4014681,OMIM:615922	Retinitis pigmentosa 70	germline	9	113288183	TATATGTTTGGTTCCTTTCCAGTGATGAACCAGTGGCAGATATTGAAGGCCATACAGTGCG
137852215	25751	NM_001008222.2(ZDHHC9):c.448C>T (p.Pro150Ser)	ZDHHC9	May 01, 2007	MedGen:C2749033,OMIM:300799	Mental retardation, X-linked, syndromic, Raymond type	germline	X	129823718	TACTGTTACACATGCAAGATCTTCCGGCCTCCCCGGGCCTCCCATTGCAGCATCTGTGACA
760378316	205756	NM_001145715.2(KPNA7):c.106C>T (p.Arg36Ter)	KPNA7	Oct 07, 2014	Human Phenotype Ontology:HP:0001256,MedGen:C0026106	Intellectual disability, mild	maternal	7	99203201	CAGCAGAGGATGGCGGTCAGTCTGGAGCTCCGAAAGGCCAAGAAAGATGAACAGACCTTAA
794727953	196159	NM_000214.2(JAG1):c.1207C>T (p.Gln403Ter)	JAG1	Feb 23, 2015	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10650274	GTTAACGGATTTAAGTGTGTGTGCCCCCCACAGTGGACTGGGAAAACGTGCCAGTTAGGTA
-1	480624	NM_000660.6(TGFB1):c.133C>T (p.Arg45Cys)	TGFB1	Jan 01, 2017	Human Phenotype Ontology:HP:0001298,MedGen:C1963101;MedGen:CN201623,Orphanet:ORPHA238569	Encephalopathy;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	germline	19	41352912	ACTATCGACATGGAGCTGGTGAAGCGGAAGCGCATCGAGGCCATCCGCGGCCAGATCCTGT
75039782	22205	NM_000492.3(CFTR):c.3718-2477C>T	CFTR	Aug 16, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN169374	Cystic fibrosis;Hereditary pancreatitis;not specified	germline;unknown	7	117639961	AGTCTTCCATCTGTTGCAGTATTAAAATGGCGAGTAAGACACCCTGAAAGGAAATGTTCTA
780673293	433908	NM_002977.3(SCN9A):c.2488C>T (p.Arg830Ter)	SCN9A	Feb 02, 2017	MedGen:CN169374	not specified	germline	2	166277336	AACATTAAACTTTATATTTGCTTTTAGCTCCGAGTCTTCAAGTTGGCAAAATCCTGGCCAA
1060501173	400601	NM_025137.3(SPG11):c.5158C>T (p.Gln1720Ter)	SPG11	Nov 08, 2016	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	germline	15	44584522	CAGGAAATGCAGACCCTAAAACACATTGAACAGTGGTCACTAAAACAAGCAAGAATTGACT
1057516633	357705	NM_017890.4(VPS13B):c.5590C>T (p.Gln1864Ter)	VPS13B	Apr 05, 2017	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	germline;unknown	8	99642105	ATGGCCTTATCCAAATCGAAATCACAAGAACAGAAGAATAATGAAAAAACAGACAAGAGTT
121908165	19693	NM_006118.3(HAX1):c.256C>T (p.Arg86Ter)	HAX1	Dec 01, 2008	MedGen:CN032247,OMIM:610738	Severe congenital neutropenia 3, autosomal recessive	germline	1	154273538	CACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGG
72653746	426857	NM_001171.5(ABCC6):c.3709C>T (p.Gln1237Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16159508	GAGAACAGCATCGTGTCAGTGGAGCGGATGCAGGACTATGCCTGGACGCCCAAGGAGGTGA
397515556	76593	NM_005211.3(CSF1R):c.2329C>T (p.Arg777Trp)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056332	CCCTGCAGTGCTTTCCCTCAGTGCATCCACCGGGACGTGGCAGCGCGTAACGTGCTGTTGA
104886283	36081	NM_000495.4(COL4A5):c.4463C>T (p.Ser1488Phe)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108687647	AGGGAACACTTCAGGTCTATGAAGGCTTTTCTCTCCTGTATGTACAAGGAAATAAAAGAGC
121908955	21707	NM_003494.3(DYSF):c.6124C>T (p.Arg2042Cys)	DYSF	Apr 07, 2017	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;not provided	germline	2	71682597	TACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCA
201356558	259626	NM_002016.1(FLG):c.10225C>T (p.Arg3409Ter)	FLG	Oct 26, 2017	MedGen:CN517202	not provided	germline	1	152304661	GCCCATGGGCGGACCAGGACCAGCACTGGACGAAGACAAGGATCCCACCACGAGCAGGCAC
780133289	451766	NM_017849.3(TMEM127):c.469C>T (p.Gln157Ter)	TMEM127	Jul 06, 2017	MedGen:C1708353,Orphanet:ORPHA29072	Hereditary Paraganglioma-Pheochromocytoma Syndromes	germline	2	96254056	TCTTATTGGGCTTCTGAACTCATCTTGGCCCAGCAGCAGCAGCATAAGAAGTACCATGGAT
118203972	16050	NM_139241.3(FGD4):c.670C>T (p.Arg224Ter)	FGD4	Jul 01, 2007	MedGen:C1836336,OMIM:609311,Orphanet:ORPHA99954	Charcot-Marie-Tooth disease, type 4H	germline	12	32598566	CTTTTGCTTACTGAAAGAGCTTATGTCAACCGACTTGACCTCTTAGATCAGGTAAGATTTT
61750422	259881	NM_000466.2(PEX1):c.2614C>T (p.Arg872Ter)	PEX1	Jan 12, 2016	MedGen:CN517202	not provided	germline	7	92499808	TATCCAGAATTATTTGCAAACTTGCCCATACGACAAAGAACAGGAATACTGTTGTATGGTC
397514759	75606	NM_002295.5(RPSA):c.25C>T (p.Gln9Ter)	RPSA	May 24, 2013	MedGen:C1849084,OMIM:271400	Asplenia, isolated congenital	germline	3	39407678	TTCACAATGTCCGGAGCCCTTGATGTCCTGCAAATGAAGGAGGAGGATGTCCTTAAGTTCC
104894078	19237	NM_018972.2(GDAP1):c.358C>T (p.Arg120Trp)	GDAP1	Apr 13, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C1842983,OMIM:607831,Orphanet:ORPHA101097;MedGen:C1859198,OMIM:214400,Orphanet:ORPHA99948;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 2K;Charcot-Marie-Tooth disease, type 4A;not provided	germline;paternal	8	74360184	ATGCCTGATAAAGAAAGCATGTATTACCCACGGGTACAACATTACCGAGAGCTGCTTGACT
121907923	18514	NM_000280.4(PAX6):c.202C>T (p.Pro68Ser)	PAX6	Jun 01, 2003	Human Phenotype Ontology:HP:0000588,MedGen:C0155299,OMIM:120430,SNOMED CT:17541006	Coloboma of optic disc	germline	11	31801716	GGCAGGTATTACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAG
148890852	417248	NM_004773.3(ZNHIT3):c.92C>T (p.Ser31Leu)	ZNHIT3	Jun 01, 2017	MedGen:C1850055,OMIM:260565,Orphanet:ORPHA2836	PEHO syndrome	germline	17	36486940	CGGCCTGTGGCCTCTGTTGTTACAGCTGCTCGGTAGTCTGCTTCCGGAAGCACAAAGGTGA
863223718	209861	NM_002890.2(RASA1):c.2131C>T (p.Arg711Ter)	RASA1	Aug 17, 2017	MedGen:CN517202	not provided	germline	5	87376512	ATTGAACCAGGGTCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCATGCCAGAAG
587784118	168184	NM_022455.4(NSD1):c.4444C>T (p.Gln1482Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177246743	AAACGACAGAGGCATGCTGCAGCCAAGATGCAGTGTAAAAAAGTGAAAAATGATGACTCGT
121917776	27236	NM_014000.2(VCL):c.2923C>T (p.Arg975Trp)	VCL	Oct 20, 2006	MedGen:C1969639,OMIM:611407;MedGen:C2750459,OMIM:613255	Dilated cardiomyopathy 1W;Familial hypertrophic cardiomyopathy 15	germline	10	74112086	CCCATTCTGGCCGCGGCTCAGTCCTTGCATCGGGAAGCTACCAAGTGGTCTAGTAAGGTAC
548065551	214822	NM_177550.4(SLC13A5):c.1280C>T (p.Ser427Leu)	SLC13A5	Nov 01, 2015	MedGen:C4014621,OMIM:615905	Epileptic encephalopathy, early infantile, 25	germline	17	6690936	ATGACTGCCCTCCTGGTGCTTCCCAGGCCTCGGGGCTGTCCGTGTGGATGGGGAAGCAGAT
104894942	198554	NM_000116.4(TAZ):c.280C>T (p.Arg94Cys)	TAZ	Jan 06, 2014	MedGen:CN517202	not provided	germline	X	154413248	CTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGT
886039822	260584	NM_022068.3(PIEZO2):c.4723C>T (p.Arg1575Ter)	PIEZO2	Oct 12, 2016	MedGen:C4310692,OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	germline	18	10736621	GAATTAAAGAAGGAAGATGAAGAACCTCCACGAAGGTCAGCATTCCAGGTAATTATGGGGA
868044680	264817	NM_030632.2(ASXL3):c.3349C>T (p.Arg1117Ter)	ASXL3	Aug 29, 2016	MedGen:C3809650,OMIM:615485,Orphanet:ORPHA352577;MedGen:CN517202	Bainbridge-Ropers syndrome;not provided	germline	18	33743197	AAGGCTAAGCTCTTTGCAAAGCATCAAGCTCGAGCCCATCTCTTCCAGACCTCTAAAGAGA
118192236	34620	NM_172107.3(KCNQ2):c.1741C>T (p.Arg581Ter)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200;MedGen:CN517202	Benign familial neonatal seizures 1;not provided	germline	20	63413472	TACTCAGCCGGCCACCTGGACATGCTGTCCCGAATTAAGAGCCTGCAGTCCAGGCAAGAGC
-1	484101	NM_000535.6(PMS2):c.1120C>T (p.Gln374Ter)	PMS2	Jun 29, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	5989824	GATAGTGATGTCAACAAGCTAAATGTCAGTCAGCAGCCACTGCTGGATGTTGAAGGTAAGA
121909266	23374	NM_000388.3(CASR):c.196C>T (p.Arg66Cys)	CASR	Jun 07, 2017	MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:CN517202	Hypocalciuric hypercalcemia, familial, type 1;not provided	germline	3	122257091	CCACTTCTTCTTTCTTCCAGGTATAATTTCCGTGGGTTTCGCTGGTTACAGGCTATGATAT
61750200	22937	NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys)	ABCA4	Apr 26, 2017	MedGen:C1858806,OMIM:604116;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Cone-rod dystrophy 3;Stargardt disease 1;not provided	germline	1	94098928	GACATCGCCTGCAGCGAGGCCCTCCTGGAGCGCTTCATCATCTTCAGCCAGAGACGCGGGG
104894958	24779	NM_003140.2(SRY):c.277C>T (p.Gln93Ter)	SRY	Jul 01, 1992	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787327	CCCAGAATGCGAAACTCAGAGATCAGCAAGCAGCTGGGATACCAGTGGAAAATGCTTACTG
1030872147	426787	NM_001171.5(ABCC6):c.4381C>T (p.Arg1461Cys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150600	TGCACTGTGCTGCTCATTGCCCACCGCCTGCGCTCCGTGATGGACTGTGCCCGGTAAGGCT
137852751	23849	NM_001204.6(BMPR2):c.994C>T (p.Arg332Ter)	BMPR2	May 24, 2017	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202530820	ACAGATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTAGTGA
879254534	245574	NM_000527.4(LDLR):c.460C>T (p.Gln154Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105366	CCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGC
863225344	214715	NM_000038.5(APC):c.3688C>T (p.Gln1230Ter)	APC	Oct 01, 2012	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112839282	ACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAA
80338713	33884	NM_000047.2(ARSE):c.1442C>T (p.Thr481Met)	ARSE	Nov 03, 2011	MedGen:C1844853,OMIM:302950,Orphanet:ORPHA79345	Chondrodysplasia punctata 1, X-linked recessive	not provided	X	2935160	GAGGAACAATGTGGAAAGTCCACTTTGTGACGCCTGTGTTCCAGCCAGAGGGAGCCGGTGC
769381688	185790	NM_005957.4(MTHFR):c.379C>T (p.His127Tyr)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11801257	GTGAACTACTGTGGCCTGGAGACCATCCTGCACATGACCTGCTGCCGTCAGCGCCTGGAGG
587779769	132660	NM_001101.4(ACTB):c.209C>T (p.Pro70Leu)	ACTB	Apr 15, 2014	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995	Baraitser-Winter syndrome 1	germline	7	5529315	GCAAGAGAGGCATCCTCACCCTGAAGTACCCCATCGAGCACGGCATCGTCACCAACTGGGA
397508997	69311	NM_007294.3(BRCA1):c.2683C>T (p.Gln895Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43092848	TTCTCTGCCCACTCTGGGTCCTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGTGAAC
886041448	264462	NM_015335.4(MED13L):c.5278C>T (p.Arg1760Ter)	MED13L	Jan 13, 2016	MedGen:CN517202	not provided	germline	12	115980836	ATGGCATTTTCAGTGTACTGCCAGTGCAGGCGACCACTGCCTACACAGATCCACATTAAAT
137853323	26491	NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter)	IKBKG	Feb 04, 2016	MedGen:C0021171,OMIM:308300,Orphanet:ORPHA464,SNOMED CT:367520004;MedGen:CN517202	Incontinentia pigmenti syndrome;not provided	germline	X	154552186	CAGCGCTGCCTGGAGGAGAATCAAGAGCTCCGAGGTGAGGAAAGAGTCAGGGGATCCAGCC
142074233	68970	NM_007294.3(BRCA1):c.1600C>T (p.Gln534Ter)	BRCA1	Sep 18, 2017	MedGen:C2676676,OMIM:604370;MedGen:CN517202	Breast-ovarian cancer, familial 1;not provided	germline	17	43093931	GCAGTTCAAAAGACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTC
797044578	188176	NM_002055.4(GFAP):c.772C>T (p.Arg258Cys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44913277	AGCAACATGCATGAAGCCGAAGAGTGGTACCGCTCCAAGGTAGCCCTGCCTGTGGGCCAGC
587783390	168720	NM_018249.5(CDK5RAP2):c.4441C>T (p.Arg1481Ter)	CDK5RAP2	Apr 30, 2013	MedGen:C1858108,OMIM:604804	Primary autosomal recessive microcephaly 3	germline;unknown	9	120409290	GCAGATAAACAGAAGGAGAATGACAAATTACGAGAGTCCCTCTCCAGGAAGACCGTGAGCC
786200999	178827	NM_002582.3(PARN):c.1148C>T (p.Ala383Val)	PARN	May 13, 2015	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008;MedGen:C4225356,OMIM:616353	Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 6	germline	16	14582225	CTGAACAACTCCACGAGGCAGGCTACGATGCCTACATCACAGGGCTGTGCTTCATCTCCAT
118203963	16148	NM_025137.3(SPG11):c.6100C>T (p.Arg2034Ter)	SPG11	Jan 20, 2017	MedGen:C4225253,OMIM:616668,Orphanet:ORPHA466775;MedGen:C4225253,OMIM:616668,Orphanet:ORPHA466775;MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822;MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal type 2X;Charcot-Marie-Tooth disease, axonal type 2X;Spastic paraplegia 11, autosomal recessive;Spastic paraplegia 11, autosomal recessive;not provided	germline	15	44573652	TTGGCCTCTCAGCAGCCTGACCGATGCAAACGAGCCCAGGCCTTCATCAGCACACAGGGCC
118203682	58105	NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter)	TSC1	Jun 30, 2017	Human Phenotype Ontology:HP:0009729,MedGen:C1332852;Human Phenotype Ontology:HP:0010566,MedGen:C0018552;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Cardiac rhabdomyoma;Hamartoma;Hereditary cancer-predisposing syndrome;Seizures;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	germline;unknown	9	132902640	CACAGCCAGATCAGACAGCTGCAGCATGACCGAGAGGAATTCTACAACCAGAGCCAGGAAT
886040610	261312	NM_000059.3(BRCA2):c.5800C>T (p.Gln1934Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32340155	ATTCAGAGTGAAGAAATTTTACAACATAACCAAAATATGTCTGGATTGGAGAAAGTTTCTA
397515543	76549	NM_001876.3(CPT1A):c.1339C>T (p.Arg447Ter)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	not provided	11	68781784	GACAGCTACGCCAAATCTCTACTACACGGCCGATGTTACGACAGGTACCGTCCTTACCTTC
104894714	19826	NM_181882.2(PRX):c.2857C>T (p.Arg953Ter)	PRX	Apr 05, 2017	MedGen:CN069172;MedGen:C3540453,OMIM:614895,Orphanet:ORPHA99952;MedGen:CN043578;MedGen:CN517202	Autosomal recessive Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease, demyelinating, type 4f;Charcot-Marie-Tooth disease, type IV;not provided	germline	19	40395495	GTGGCTAAGGCAGAGGCTGAGGGGGCTGGGCGAGCTACCAAGCTGAAGGTATCCAAATTTG
61749384	15327	NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp)	VWF	Nov 01, 2016	MedGen:CN517202;MedGen:C1282971,Orphanet:ORPHA166087	not provided;von Willebrand disease, type 2b	germline	12	6019502	CTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCG
137852594	24889	NM_000044.4(AR):c.2667C>T (p.Ser889=)	AR	Nov 27, 2001	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67723745	TGACCTGCTAATCAAGTCACACATGGTGAGCGTGGACTTTCCGGAAATGATGGCAGAGATC
875989884	227923	NM_000425.4(L1CAM):c.2380C>T (p.Gln794Ter)	L1CAM	Apr 05, 2016	MedGen:C0265216,OMIM:307000,Orphanet:ORPHA2182,SNOMED CT:71779008	X-linked hydrocephalus syndrome	maternal	X	153866700	TATGAGATCAAAGTCCAGGCCGTCAACAGCCAGGGCAAGGGACCAGAGCCCCAGGTCACTA
281864929	46999	NM_133378.4(TTN):c.100186C>T (p.Gln33396Ter)	TTN	Aug 23, 2012	MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609	Distal myopathy Markesbery-Griggs type	not provided	2	178527098	ACAACCCTGATCATCATGGACGTACAGAAACAAGATGGTGGACTTTATACCCTGAGTTTAG
80358308	21332	NM_002335.3(LRP5):c.1330C>T (p.Arg444Cys)	LRP5	Aug 01, 2005	MedGen:C4016840	Exudative vitreoretinopathy 4, digenic	germline	11	68386630	GACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGG
72549334	31348	NM_006894.5(FMO3):c.1474C>T (p.Arg492Trp)	FMO3	Jun 14, 2016	Human Phenotype Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED CT:237959005	Trimethylaminuria	germline	1	171117317	GCCAGAAATGCCATACTGACCCAGTGGGACCGGTCGTTGAAACCCATGCAGACACGAGTGG
1057519430	362169	NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu)	DDX3X	-	MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260	Mental retardation, X-linked 102	de novo	X	41346946	ATCTTCTTGTTGAAGCTAAACAAGAAGTGCCGTCTTGGTTAGAAAACATGGCTTATGAACA
35129734	94240	NM_016204.3(GDF2):c.997C>T (p.Arg333Trp)	GDF2	Sep 05, 2013	MedGen:C3809710,OMIM:615506	Telangiectasia, hereditary hemorrhagic, type 5	germline	10	47325491	GCTGGCAGCCACTGTCAAAAGACCTCCCTGCGGGTAAACTTCGAGGACATCGGCTGGGACA
137852214	25750	NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp)	ZDHHC9	May 01, 2007	MedGen:C2749033,OMIM:300799	Mental retardation, X-linked, syndromic, Raymond type	germline	X	129823724	CTGAAATACTGTTACACATGCAAGATCTTCCGGCCTCCCCGGGCCTCCCATTGCAGCATCT
587784137	168210	NM_022455.4(NSD1):c.5098C>T (p.Arg1700Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177260120	CCTAATCACTTTACCCCTAGGCGGGGCTGCCGAAATCATGAGCATGTTAATGTTAGCTGGT
121909742	31131	NM_000340.1(SLC2A2):c.1093C>T (p.Arg365Ter)	SLC2A2	Jan 01, 2002	MedGen:C3495427,OMIM:227810,Orphanet:ORPHA2088,SNOMED CT:61598006	Fanconi-Bickel syndrome	germline	3	170999142	TCCTAGGTATTCCTTGTGGAGAAGGCAGGGCGACGTTCTCTCTTTCTAATTGGAATGAGTG
397515895	51687	NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter)	MYBPC3	Nov 30, 2012	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	11	47343099	ATCGGTGCCAAGCGTACCCTGACCATCAGCCAGTGCTCATTGGCGGACGACGCAGCCTACC
72651614	414004	NM_000088.3(COL1A1):c.1792C>T (p.Arg598Ter)	COL1A1	Jan 22, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline;paternal	17	50193023	CCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCG
201912053	407687	NM_175073.2(APTX):c.124C>T (p.Arg42Ter)	APTX	Jan 30, 2017	MedGen:CN517202	not provided	germline	9	32989768	GAGACCAAGATCACTGATAAGAAATGTTCTCGACAGCAAGGTAACTGGTCATAGAAATGTG
863224973	213893	NM_001097642.2(GJB1):c.319C>T (p.Arg107Trp)	GJB1	Sep 08, 2015	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	germline	X	71224026	CACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACC
121965031	265213	NM_000203.4(IDUA):c.1855C>T (p.Arg619Ter)	IDUA	Mar 22, 2016	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473	Hurler syndrome	germline	4	1004286	CCAGACACAGGTGCTGTCTCTGGCTCCTACCGAGTTCGAGCCCTGGACTACTGGGCCCGAC
80357456	69765	NM_007294.3(BRCA1):c.4075C>T (p.Gln1359Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43091456	ACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAA
104893710	23386	NM_000388.3(CASR):c.2459C>T (p.Ser820Phe)	CASR	Jun 01, 2002	MedGen:C0342345,OMIM:601198	Hypocalcemia, autosomal dominant 1	germline	3	122284413	GCATGCTCATCTTCTTCATCGTCTGGATCTCCTTCATTCCAGCCTATGCCAGCACCTATGG
121434242	18392	NM_004698.3(PRPF3):c.1477C>T (p.Pro493Ser)	PRPF3	Jan 01, 2002	MedGen:C1832378,OMIM:601414	Retinitis pigmentosa 18	germline	1	150344212	CGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTC
63751615	32126	NM_000249.3(MLH1):c.676C>T (p.Arg226Ter)	MLH1	Jun 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;Turcot syndrome;not provided	germline;unknown	3	37012098	ATTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCT
869025588	224821	NM_001039590.2(USP9X):c.2554C>T (p.Arg852Ter)	USP9X	Mar 01, 2016	MedGen:C4225416,OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	germline	X	41168136	TGTGCAAGACAGGAAGCTGTTCGAATGGTTCGAGTATTAACTGTTTTAAGGGAATATATAA
397517326	55091	NM_022124.5(CDH23):c.3628C>T (p.Gln1210Ter)	CDH23	Sep 25, 2011	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71730517	GACATCAACGATGAGGCCCCCGTGTTCACACAGCAGCAGTACAGCCGTCTGGGGCTTCGAG
398123546	99398	NM_000402.4(G6PD):c.1450C>T (p.Arg484Cys)	G6PD	Apr 15, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;MedGen:C1851319,OMIM:134700;MedGen:CN517202;MedGen:CN169374	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Favism, susceptibility to;not provided;not specified	germline	X	154532390	GTCTTCTGCGGGAGCCAGATGCACTTCGTGCGCAGGTGAGGCCCAGCTGCCGGCCCCTGCA
121909606	31438	NM_000508.3(FGA):c.103C>T (p.Arg35Cys)	FGA	Dec 20, 2012	Human Phenotype Ontology:HP:0011901,MedGen:C1260903,SNOMED CT:111589005	Dysfibrinogenemia	germline	4	154589514	GGTGACTTTCTAGCTGAAGGAGGAGGCGTGCGTGGCCCAAGGGTTGTGGAAAGACATCAAT
151001642	57020	NM_138691.2(TMC1):c.1165C>T (p.Arg389Ter)	TMC1	Feb 19, 2016	MedGen:C1832978,OMIM:600974;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 7;Nonsyndromic hearing loss and deafness	germline	9	72789258	AGTGGATACCTCATCTTTTGGGCTGTGAAGCGATCCCAGGAATTTGCACAGCAAGATCCTG
72651642	271557	NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)	COL1A1	Jun 05, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004;MedGen:CN517202	Osteogenesis imperfecta type I;Osteogenesis imperfecta with normal sclerae, dominant form;not provided	germline;maternal;paternal	17	50191826	GTGCAAGGTCCCCCTGGTCCTGCTGGTCCCCGAGGGGCCAACGGTGCTCCCGGCAACGATG
-1	434877	NM_001212.3(C1QBP):c.823C>T (p.Leu275Phe)	C1QBP	Oct 12, 2017	MedGen:CN533576,OMIM:617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	germline	17	5433041	CACCAGGAGTACATTACTTTTCTTGAAGACCTCAAGAGTTTTGTCAAGAGCCAGTAGAGCA
104894688	27180	NM_000148.3(FUT1):c.826C>T (p.Gln276Ter)	FUT1	Jun 21, 1994	MedGen:C1859411	Para-Bombay phenotype	germline	19	48750456	GAGTGGTGTAAAGAAAACATCGACACCTCCCAGGGCGATGTGACGTTTGCTGGCGATGGAC
121917712	28863	NM_000168.5(GLI3):c.1873C>T (p.Arg625Trp)	GLI3	Jul 01, 2003	MedGen:C0265306,OMIM:175700,SNOMED CT:32985001	Greig cephalopolysyndactyly syndrome	germline	7	41972567	ACTAAGCGTTACACAGACCCAAGCTCCCTCCGGAAACATGTGAAGACAGTGCATGGCCCAG
886040822	261533	NM_000059.3(BRCA2):c.9139C>T (p.Gln3047Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32380028	TTTCTGTAGGTTTCAGATGAAATTTTATTTCAGATTTACCAGCCACGGGAGCCCCTTCACT
1052078370	417143	NM_019098.4(CNGB3):c.208C>T (p.Gln70Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	maternal	8	86739658	GTCACGTCTGAAGAGCCACACACCAACATACAAGGTCAGAATGCAGTCTGAAAAAAAAAAA
63751208	30500	NM_000518.4(HBB):c.-50-101C>T	HBB	Aug 07, 2017	MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000	Beta-plus-thalassemia;beta Thalassemia	germline;unknown	11	5227172	AGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATC
754221948	258310	NM_198056.2(SCN5A):c.4719C>T (p.Gly1573=)	SCN5A	May 12, 2017	MedGen:CN230736;MedGen:CN517202	Cardiovascular phenotype;not provided	germline	3	38554373	CAACCTGCTCTTTGTGGCCATCTTCACAGGCGAGTGTATTGTCAAGCTGGCTGCCCTGCGC
377577594	362761	NM_175629.2(DNMT3A):c.2644C>T (p.Arg882Cys)	DNMT3A	May 31, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MeSH:D009190,MedGen:C0026986,OMIM:614286	Acute myeloid leukemia;Adenocarcinoma of lung;Myelodysplastic syndrome	somatic	2	25234374	GTCCACTATACTGACGTCTCCAACATGAGCCGCTTGGCGAGGCAGAGACTGCTGGGCCGGT
794729284	199031	NM_001256850.1(TTN):c.68923C>T (p.Arg22975Ter)	TTN	Apr 17, 2013	MedGen:CN517202	not provided	germline	2	178572286	GAAACCGCAGAATCTGTGAAAGCATCAGAACGACCTCTTCCTCCAGGAAAAATAACTTTGA
-1	470104	NM_000268.3(NF2):c.592C>T (p.Arg198Ter)	NF2	Jul 13, 2017	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29655669	ATTACTGCTTGGTACGCAGAGCACCGAGGCCGAGCCAGGTGAGGCCCATTCATTGTTGGTT
121913403	32625	NM_001904.3(CTNNB1):c.110C>T (p.Ser37Phe)	CTNNB1	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;MeSH:D010051,MedGen:CN236629;Human Phenotype Ontology:HP:0030434,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:ORPHA91414;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Hepatocellular carcinoma;Malignant melanoma;Malignant neoplasm of body of uterus;Medulloblastoma;Ovarian Neoplasms;Pilomatrixoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	somatic	3	41224622	AACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAG
104894004	32886	NM_198098.3(AQP1):c.113C>T (p.Pro38Leu)	AQP1	Sep 09, 1994	MedGen:CN795021	COLTON-NULL PHENOTYPE	germline	7	30912022	GCATCGGTTCTGCCCTGGGCTTCAAATACCCGGTGGGGAACAACCAGACGGCGGTCCAGGA
74315377	20480	NM_005149.2(TBX19):c.383C>T (p.Ser128Phe)	TBX19	Mar 23, 2001	Human Phenotype Ontology:HP:0011748,MedGen:C0342388,OMIM:201400,SNOMED CT:237692001	ACTH deficiency	germline	1	168291339	GCCACAGCTGCGTCTACATTCACCCGGACTCCCCCAACTTTGGGGCCCACTGGATGAAAGC
141074983	359415	NM_025216.2(WNT10A):c.337C>T (p.Arg113Cys)	WNT10A	Jul 23, 2015	MedGen:CN517202	not provided	germline	2	218882384	CAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCT
137854559	15396	NM_000267.3(NF1):c.4021C>T (p.Gln1341Ter)	NF1	Aug 02, 2015	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline;somatic	17	31249030	AGCCTTGAGGAAAACCAGCGGAACCTCCTTCAGATGACTGAAAAGTTCTTCCATGCCATCA
118203989	16339	NM_001042702.3(PJVK):c.499C>T (p.Arg167Ter)	PJVK	May 22, 2015	MedGen:C1857744,OMIM:610220;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 59;Nonsyndromic hearing loss and deafness	germline	2	178456101	TGTGTGGTCATGGAGAGCATCCGAACCACACGACAGTGCTCACTGTCTGTGCATGCTGGAA
200901816	394709	NM_001369.2(DNAH5):c.13486C>T (p.Arg4496Ter)	DNAH5	Apr 27, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13701289	TTTAACCCCCAGGGATTTTTAACTGCAATGCGACAGGTAAGAGCTCTGATTTGCACCCGTT
397516321	52461	NM_000260.3(MYO7A):c.5617C>T (p.Arg1873Trp)	MYO7A	Mar 09, 2011	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77205598	CACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAGAAAGCCCTGAGGTACAGCGGCC
138556525	264435	NM_000429.2(MAT1A):c.776C>T (p.Ala259Val)	MAT1A	Mar 30, 2017	MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009;MedGen:CN517202	Hepatic methionine adenosyltransferase deficiency;not provided	germline	10	80275192	TCTTGATTTCTCTCCCTCTGCAGGGGGATGCGGGTGTCACTGGCCGTAAGATTATTGTGGA
1131691759	422381	NM_001098.2(ACO2):c.34C>T (p.Gln12Ter)	ACO2	Oct 12, 2015	MedGen:CN517202	not provided	germline	22	41469180	GCGCCCTACAGCCTACTGGTGACTCGGCTGCAGGTGAGCGAGCTCAGGGACCTCTGGGTTC
104893970	21160	NM_001075098.3(MOCS1):c.217C>T (p.Arg73Trp)	MOCS1	Jun 01, 2003	MedGen:C1854988,OMIM:252150,Orphanet:ORPHA308386	Molybdenum cofactor deficiency, complementation group A	germline	6	39927362	GACAGCTTCGGCCGGCAGCACAGCTACCTGCGGATCTCCCTCACAGAGAAGTGCAACCTCA
1057520391	368900	NM_178012.4(TUBB2B):c.533C>T (p.Thr178Met)	TUBB2B	Jan 04, 2017	MedGen:CN517202	not provided	germline	6	3225556	GCGTCATGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACCCTCTC
760228510	231681	NM_000535.6(PMS2):c.631C>T (p.Arg211Ter)	PMS2	Sep 25, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	germline	7	5999182	AGTTGCACCAATCAGCTTGGACAAGGAAAACGACAGCCTGTGGTATGCACAGGTGGAAGCC
128621193	26402	NM_000061.2(BTK):c.763C>T (p.Arg255Ter)	BTK	Mar 19, 2013	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	Agammaglobulinemia, non-Bruton type;X-linked agammaglobulinemia	germline	X	101360581	GAGGAAAGCAACTTACCATGGTGGAGAGCACGAGATAAAAATGGGTGAGTCCACACCAGCC
80338645	76441	NM_000081.3(LYST):c.1540C>T (p.Arg514Ter)	LYST	Feb 16, 2012	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	not provided	1	235809278	TGTGAATATTCTCATTTTATGCATCATCACCGAGATCTCTCAGGTCTTCTGGTTTCGGCTT
397517329	55108	NM_022124.5(CDH23):c.4309C>T (p.Arg1437Ter)	CDH23	Dec 28, 2016	MedGen:C1832845,OMIM:601067;MedGen:CN517202	Usher syndrome, type 1D;not provided	germline	10	71738597	AGCATACCCGAGGACTGCCCTGTGGGCCAGCGAGTGGCTACTGTCAAGGCCTGGGACCCTG
137852690	24032	NM_000349.2(STAR):c.653C>T (p.Ala218Val)	STAR	Nov 01, 1999	MedGen:C0342474,OMIM:201710,Orphanet:ORPHA90790,SNOMED CT:44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency	germline	8	38145313	CTCCTGACTTGACTTCTCCATTTGCCAGGGCGGAGCACGGTCCCACTTGCATGGTGCTTCA
1057520739	368534	NM_000046.3(ARSB):c.1325C>T (p.Thr442Met)	ARSB	May 27, 2015	MedGen:CN517202	not provided	germline	5	78781863	CAATTAGACATGGAAATTGGAAACTCCTCACGGGCTACCCAGGTAGAGTCCTTAGCTTAGC
72552732	36750	NM_003060.3(SLC22A5):c.1319C>T (p.Thr440Met)	SLC22A5	Jun 30, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline;unknown	5	132392484	TCCTGGTGATGGTGGGCAAGTTTGGAGTCACGGCTGCCTTTTCCATGGTCTACGTGTACAC
121434313	16849	NM_152594.2(SPRED1):c.70C>T (p.Arg24Ter)	SPRED1	Dec 25, 2015	MedGen:C1969623,OMIM:611431,Orphanet:ORPHA137605	Legius syndrome	germline;unknown	15	38299410	TATGCACGAGTGCGAGCTGTGGTGATGACCCGAGATGACTCAAGTGGTGGATGGTTACCAC
199422272	22365	NR_001566.1(TERC):n.116C>T	TERC	May 10, 2012	MedGen:C1851970,OMIM:127550;MedGen:C3553622,OMIM:614743	Dyskeratosis congenita autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	germline	3	169764945	TCCCCGCGCGCTGTTTTTCTCGCTGACTTTCAGCGGGCGGAAAAGCCTCGGCCTGCCGCCT
398123378	98878	NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter)	LAMA2	Aug 16, 2017	MedGen:CN117977;MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Laminin alpha 2-related dystrophy;Merosin deficient congenital muscular dystrophy	germline	6	129427800	TTATTAAAGGAAGATGCCAAAGGCTGTCTTCAGAAAAGCTTCAGGATTCTTAACGAAGCCA
111033722	36547	NM_000155.3(GALT):c.554C>T (p.Pro185Leu)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648161	GTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCC
1054894	26363	NM_004085.3(TIMM8A):c.238C>T (p.Arg80Ter)	TIMM8A	Jun 01, 2001	MedGen:C0796074,OMIM:304700,Orphanet:ORPHA52368	Mohr-Tranebjaerg syndrome	germline	X	101346555	TTCATTGATACAAGCCAGTTCATCTTGAATCGACTGGAACAGACCCAGAAATCCAAGCCAG
1057516052	353952	NM_000033.3(ABCD1):c.529C>T (p.Gln177Ter)	ABCD1	Jun 29, 2016	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153725795	GTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGG
-1	482102	NM_015272.4(RPGRIP1L):c.2299C>T (p.Gln767Ter)	RPGRIP1L	Aug 07, 2017	MedGen:CN517202	not provided	germline	16	53648969	ACATCAAATTTTAAGGGGCCAGAGCATATGCAGTCGGTAAGCTCATTTGGCTTTAAGACCC
879255551	247465	NM_001399.4(EDA):c.865C>T (p.Arg289Cys)	EDA	Aug 17, 2016	MedGen:C1970757,OMIM:313500	Tooth agenesis, selective, X-linked, 1	germline	X	70033469	ATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACG
201551805	186610	NM_000228.2(LAMB3):c.1705C>T (p.Arg569Ter)	LAMB3	Jun 02, 2017	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006;MedGen:CN517202	Junctional epidermolysis bullosa gravis of Herlitz;not provided	germline;unknown	1	209625919	TTGACCGGGCCCCGCTGTGACCAGTGCCAGCGAGGCTACTGTAATCGCTACCCGGTGTGCG
137854574	15847	NM_000038.5(APC):c.1690C>T (p.Arg564Ter)	APC	Jul 07, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112828919	CGAGCAGATGTAAATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGCATTGATGG
104893728	20972	NM_006580.3(CLDN16):c.704C>T (p.Ser235Phe)	CLDN16	Jul 02, 1999	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190408425	TTCTTGGTATCCAATATAAATTTGGTTGGTCCTGTTGGCTCGGAATGGCTGGGTCTCTGGG
200492211	133037	NM_000179.2(MSH6):c.3142C>T (p.Gln1048Ter)	MSH6	Jul 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	2	47801125	TATAACTTTGATAAAAATTACAAGGACTGGCAGTCTGCTGTAGAGTGTATCGCAGTGTTGG
876657726	230571	NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter)	STRC	Jun 16, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	15	43610317	AGACGCTACTGGGAGCTGCCCTGGTCTGAGCAGCAGGTAATTCTCCCCACTTAATTTCAGA
886039346	260237	NM_001958.3(EEF1A2):c.1267C>T (p.Arg423Cys)	EEF1A2	Aug 09, 2016	MedGen:CN517202	not provided	germline	20	63488423	CGCCCACACGCCGCCCCCCGCCCCCCAGGCCGCTTCGCCGTGCGCGACATGAGGCAGACGG
72645366	414015	NM_000088.3(COL1A1):c.1081C>T (p.Arg361Ter)	COL1A1	Jun 27, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline;unknown	17	50195641	ATTCAGGGTGAAGCTGGTCCCCAAGGGCCCCGAGGCTCTGAAGGTCCCCAGGGTGTGCGTG
886041179	265129	NM_000390.3(CHM):c.799C>T (p.Arg267Ter)	CHM	Aug 11, 2015	MedGen:CN517202	not provided	germline	X	85958881	TTTAAAAATATTACCAGGATTCTTGCATTTCGAGAAGGACGAGTGGAACAGGTACTGTGCT
104893613	24513	NM_001298.2(CNGA3):c.847C>T (p.Arg283Trp)	CNGA3	Jul 21, 2014	MedGen:C1857618,OMIM:216900;Human Phenotype Ontology:HP:0007803,MedGen:C1857589	Achromatopsia 2;Monochromacy	germline;unknown	2	98396017	GTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGA
548527219	437687	NM_001145112.1(PATL2):c.478C>T (p.Arg160Ter)	PATL2	Dec 22, 2017	MedGen:CN562785,OMIM:617743	OOCYTE MATURATION DEFECT 4	germline	15	44672425	CATCTGACCCAGCTCCACCCTCGGCACCAACGAATCTTGCAGCAGCAGCAGCATAGTCAAA
45517216	59280	NM_000548.4(TSC2):c.2194C>T (p.Gln732Ter)	TSC2	Mar 08, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2072337	CTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTAC
-1	442849	NM_006516.2(SLC2A1):c.808C>T (p.Gln270Ter)	SLC2A1	Jul 24, 2017	MedGen:CN517202	not provided	germline	1	42929652	CTGGAGCTGTTCCGCTCCCCCGCCTACCGCCAGCCCATCCTCATCGCTGTGGTGCTGCAGC
200396166	247436	NM_001142298.1(SQSTM1):c.-47-1924C>T	SQSTM1	Nov 01, 2013	MedGen:C4225326,OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	germline	5	179821034	TCAGCTTCTGCTGCAGCCCCGAGCCTGAGGCGGAAGCCGAGGCTGCGGCGGGTCCGGGACC
797044776	195562	NM_000169.2(GLA):c.1087C>T (p.Arg363Cys)	GLA	Feb 03, 2015	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398012	ATGATAAACCGGCAGGAGATTGGTGGACCTCGCTCTTATACCATCGCAGTTGCTTCCCTGG
113871094	44746	NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter)	FBN1	Jul 11, 2017	MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED CT:254090007;MedGen:C1851286,OMIM:129600;MedGen:C3280054,OMIM:614185;MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715;MedGen:C4310796,OMIM:616914,Orphanet:ORPHA300382;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:C1869115,OMIM:608328,Orphanet:ORPHA2084;MedGen:CN517202	Acromicric dysplasia;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan lipodystrophy syndrome;Marfan syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome 2;not provided	de novo;germline;unknown	15	48465820	AAAATTCTTTGTCCTGGAGGGGAAGGTTTCCGACCAAATCCTATCACCGTTATATTGGAAG
780705654	227932	NM_001031710.2(KLHL7):c.1258C>T (p.Arg420Cys)	KLHL7	Jul 28, 2016	MedGen:C1848947,OMIM:272430;MedGen:C4310742,OMIM:617055	Cold-induced sweating syndrome 1;Cold-induced sweating syndrome 3	germline;inherited	7	23167916	TGGCACACAAAGCCCAGCATGCTGACCCAGCGCTGCAGCCATGGGATGGTGGAAGCCAATG
387907126	40131	NM_145239.2(PRRT2):c.718C>T (p.Arg240Ter)	PRRT2	Mar 24, 2015	MedGen:C1865926,OMIM:602066,Orphanet:ORPHA31709;MedGen:CN517202	Infantile convulsions and paroxysmal choreoathetosis, familial;not provided	germline	16	29813772	AGGGCACACAGTGGGCATCCAGGATCTCCCCGAGGTAGCCTGAGCCGCCACCCCAGCTCCC
760906097	214220	NM_023073.3(CPLANE1):c.2611C>T (p.Arg871Cys)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37221459	GGAGGAAGAAGGACGTATTTTCTTCAGATACGCTATTATCTTTCTCTCTTATACTGCCACC
137852577	24869	NM_000044.4(AR):c.2521C>T (p.Arg841Cys)	AR	Jan 26, 2011	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:C0268301,OMIM:312300,Orphanet:ORPHA90797,SNOMED CT:58672003	Androgen resistance syndrome;Partial androgen insensitivity syndrome	germline	X	67722898	CTTCGAATGAACTACATCAAGGAACTCGATCGTATCATTGCATGCAAAAGAAAAAATCCCA
28989186	21799	NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter)	BUB1B	Jul 27, 2015	MedGen:CN031748,OMIM:257300;MedGen:C1864389,OMIM:176430	Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait	germline;maternal	15	40176672	GAACCACTAGAAAGACTACAGTCCCAGCACCGGTAAACTTTCTTTGGAGCTTGTCTTAACT
104894578	23958	NM_000891.2(KCNJ2):c.652C>T (p.Arg218Trp)	KCNJ2	Apr 18, 2017	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Andersen Tawil syndrome;Congenital long QT syndrome;not provided	germline	17	70175691	CTGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGCCACTTGGTGGAAGCTCATGTTC
587782350	151983	NM_000314.6(PTEN):c.737C>T (p.Pro246Leu)	PTEN	Nov 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87957955	ACAAGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGA
727503326	174141	NM_004999.3(MYO6):c.826C>T (p.Arg276Ter)	MYO6	Jan 27, 2014	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	6	75844906	GTTTAATTTGTTTTGTCATAGTATTTAAACCGAGGCTGCACTAGATACTTTGCTAACAAAG
58932704	29517	NM_170707.3(LMNA):c.1357C>T (p.Arg453Trp)	LMNA	Aug 30, 2017	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:CN043576;MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264;MeSH:D009136,MedGen:C0026850,Orphanet:ORPHA98473;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Charcot-Marie-Tooth disease, type 2;Limb-girdle muscular dystrophy, type 1B;Muscular dystrophy;not provided	germline;unknown	1	156136413	GAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCT
796065046	204350	NM_005589.3(ALDH6A1):c.184C>T (p.Pro62Ser)	ALDH6A1	May 01, 2012	MedGen:C1864150,OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	germline	14	74072539	AAAAGTGACAAATGGATCGATATCCACAACCCAGTAAGCGAAGCTGCTTTGGGACTTCAAC
74315473	18116	NM_000487.5(ARSA):c.868C>T (p.Arg290Cys)	ARSA	Dec 15, 2015	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	germline;unknown	22	50626265	CGCCTCCTGTGTCCCAGACCTGAGACCATGCGTATGTCCCGAGGCGGCTGCTCCGGTCTCT
121908610	21140	NM_004820.4(CYP7B1):c.1088C>T (p.Ser363Phe)	CYP7B1	Feb 01, 2008	MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986	Spastic paraplegia 5A	germline	8	64604827	AAAGCAGCATTTTTGAAGCTTTACGACTGTCCTCATATTCAACCACCATTCGTTTTGTTGA
199422276	47890	NR_001566.1(TERC):n.180C>T	TERC	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	3	169764881	ACCGTTCATTCTAGAGCAAACAAAAAATGTCAGCTGCTGGCCCGTTCGCCCCTCCCGGGGA
387906934	39523	NM_177438.2(DICER1):c.2516C>T (p.Ser839Phe)	DICER1	Jan 05, 2011	MedGen:C0018022,OMIM:138800	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	germline	14	95108014	TTGAGTTGAAGAAGTCTGGTTTCATGTTGTCTCTACAAATGCTTGAGTTGATTACAAGACT
119473037	19214	NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys)	SMARCAL1	Feb 01, 2002	MedGen:C0877024,OMIM:242900,Orphanet:ORPHA1830	Schimke immunoosseous dysplasia	germline	2	216450927	CTCCTGCTGGAGGAAGCAGTCATGCTGCGGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGC
104894328	32867	NM_000486.5(AQP2):c.559C>T (p.Arg187Cys)	AQP2	Aug 18, 2011	MedGen:C4015884;Human Phenotype Ontology:HP:0009806,MedGen:C0162283,Orphanet:ORPHA223,SNOMED CT:111395007	Diabetes insipidus, nephrogenic, autosomal recessive;Nephrogenic diabetes insipidus	germline	12	49954663	CATTACACCGGCTGCTCTATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTCGTCACTGGCA
387906898	39414	NM_020433.4(JPH2):c.494C>T (p.Ser165Phe)	JPH2	Jun 01, 2007	MedGen:C3151264,OMIM:613873	Familial hypertrophic cardiomyopathy 17	germline	20	44160293	TGCGCTCGCCGCTGCGCACGTCGCTGTCGTCCCTGCGCAGCGAGCACAGCAACGGCACGGT
121908572	21203	NM_004328.4(BCS1L):c.296C>T (p.Pro99Leu)	BCS1L	Sep 01, 2001	MedGen:C1850598	Leigh syndrome due to mitochondrial complex III deficiency	germline	2	218661283	GCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGG
121908096	19294	NM_000784.3(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1	Sep 13, 2016	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000;MedGen:CN517202	Cholestanol storage disease;not provided	germline	2	218814186	TTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCAC
151244108	483364	NM_000251.2(MSH2):c.1225C>T (p.Gln409Ter)	MSH2	Dec 14, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47429890	GCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATAC
863224884	213535	NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)	KCNJ13	May 09, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;MedGen:C3280062,OMIM:614186	Leber congenital amaurosis;Leber congenital amaurosis 16	germline	2	232770905	TCCTAGGCCTCATGCTAGAGGCTTTTATCACAGGTAATTTTGTCTTTGTTCTTAAAAAAAA
104894427	19377	NM_014239.3(EIF2B2):c.547C>T (p.Arg183Ter)	EIF2B2	Jun 01, 2003	MedGen:C1847967,Orphanet:ORPHA99853	Ovarioleukodystrophy	germline	14	75004850	ACAGTAGAGGCCTTCCTCAAAGAGGCTGCCCGAAAGAGGAAATTCCATGTCATTGTAGCAG
786205225	188131	NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter)	NDUFB11	Aug 15, 2016	MedGen:C1708371,OMIM:500000,Orphanet:ORPHA137675;MedGen:C4225421,OMIM:300952;MedGen:CN517202	Infantile histiocytoid cardiomyopathy;Linear skin defects with multiple congenital anomalies 3;not provided	de novo;germline	X	47142690	AAGGACCCCGTTTTGGACGTCTGGAACATGCGACTTGTCTTCTTCTTTGGCGTCTCCATCA
121917758	27649	NM_176795.4(HRAS):c.173C>T (p.Thr58Ile)	HRAS	Apr 03, 2017	MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008	Costello syndrome	germline	11	533883	GGGAGACGTGCCTGTTGGACATCCTGGATACCGCCGGCCAGGAGGAGTACAGCGCCATGCG
104894457	23524	NM_006432.3(NPC2):c.436C>T (p.Gln146Ter)	NPC2	Apr 01, 2007	MedGen:C1843366,OMIM:607625	Niemann-Pick disease type C2	germline	14	74480707	CAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGG
751962801	223671	NM_024549.5(TCTN1):c.856C>T (p.Arg286Ter)	TCTN1	Feb 10, 2016	MedGen:C3280031,OMIM:614173	Joubert syndrome 13	germline	12	110640437	GTCATTCAGTCTCTAAATAAAACGCTCACCCGACGGGAGGACACTGATGTGCTGCAGCCGA
28941781	18431	NM_147196.2(TMIE):c.274C>T (p.Arg92Trp)	TMIE	Sep 01, 2002	MedGen:C1832992,OMIM:600971	Deafness, autosomal recessive 6	germline	3	46709188	GTGCCACGGACCCGGAAGGAGATCGAAGCCCGGTACCTGCAGCGAAAGGCAGCCAAGATGT
137852464	25357	NM_000132.3(F8):c.6532C>T (p.Arg2178Cys)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154863125	ATCCGTTTGCACCCAACTCATTATAGCATTCGCAGCACTCTTCGCATGGAGTTGATGGGCT
121912514	29480	NM_000238.3(KCNH2):c.2842C>T (p.Arg948Cys)	KCNH2	Sep 01, 2006	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C3150944	Congenital long QT syndrome;Long QT syndrome 1/2, digenic	germline	7	150947729	CCTGAGAGCAGTGAGGATGAGGGCCCAGGCCGCAGCTCCAGCCCCCTCCGCCTGGTGCCCT
397516042	51914	NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	MYBPC3	May 18, 2017	MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C3715165,OMIM:615396;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10;Primary familial hypertrophic cardiomyopathy;not provided	germline;unknown	11	47332075	GAGGCACGGTGTGAGTGCCGCCTGGAGGTGCGAGGTGAGGAGCCCTCGGGGCCAGGGCCTG
397514541	48185	NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu)	SDHA	Feb 01, 2013	MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208	Mitochondrial complex II deficiency	germline	5	240451	TGAGATTTGCTGATGGAAGCATAAGAACATCGGAACTGCGACTCAGCATGCAGAAGGTAAG
121918657	27801	NM_003172.3(SURF1):c.751C>T (p.Gln251Ter)	SURF1	Mar 10, 2016	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1850599	Leigh syndrome;Leigh syndrome due to mitochondrial complex IV deficiency	germline	9	133352446	GCAGAGCCCATCTTCATTGATGCCAACTTCCGTACGTTGTGGACCAGCCCATCTCGGAACA
118203434	58253	NM_000368.4(TSC1):c.733C>T (p.Arg245Ter)	TSC1	Sep 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	germline	9	132921367	ACTGGATCCAAGGACCATGAACTGGACCCTCGAAGGTATAGAAACTAGTGTCAAAATTTTA
587783018	166168	NM_020366.3(RPGRIP1):c.832C>T (p.Arg278Ter)	RPGRIP1	Sep 18, 2014	MedGen:C1854260,OMIM:613826	Leber congenital amaurosis 6	unknown	14	21307762	GCTTCCATTAAAGAGAAGGTAGAGCTGATTCGACTTAAGAAGCTCTTACATGAAAGAAATG
11230683	71023	NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter)	TMEM216	Feb 23, 2015	MedGen:C1842577,OMIM:608091;MedGen:C1842577,OMIM:608091;MedGen:C1864148,OMIM:603194;MedGen:C1864148,OMIM:603194	Joubert syndrome 2;Joubert syndrome 2;Meckel syndrome type 2;Meckel syndrome type 2	unknown	11	61397797	CTGACAGGTACAAAGGGAAACCTCTGCCAGCGAAAGATGCCGCTCAGTATTAGCGTGGCCT
1060505023	404637	NM_001145860.1(POP1):c.1744C>T (p.Pro582Ser)	POP1	Apr 10, 2017	MedGen:CN241834,OMIM:617396	Anauxetic dysplasia 2	germline	8	98148848	TTAAACCGGATGAGGAGTGAATTGCTGGTGCCTGGGTCACAGCTTATTTTAGGTCCCCATG
1057519509	362294	NM_001003694.1(BRPF1):c.1108C>T (p.Pro370Ser)	BRPF1	Feb 09, 2017	MedGen:C4310617,OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	germline	3	9739507	GTCTGCTTCGCCAACACGGTCTTCCTAGAGCCTATTGACAGCATTGAGCACATCCCACCAG
80356776	76565	NM_001876.3(CPT1A):c.941C>T (p.Thr314Ile)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	not provided	11	68793341	GCTCCGCTCAGTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAGGTGA
483352926	102962	NM_001097642.2(GJB1):c.172C>T (p.Pro58Ser)	GJB1	Nov 01, 2013	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	germline	X	71223879	AAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAAT
33939927	16977	NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys)	LRRK2	Jun 13, 2017	MedGen:C1846862,OMIM:607060	Parkinson disease 8, autosomal dominant	germline	12	40310434	AAGAGGGTTTTGTGTCTTTCCCTCCAGGCTCGCGCTTCTTCTTCCCCTGTGATTCTCGTTG
554197975	75260	NM_015375.2(DSTYK):c.655-3C>T	DSTYK	Jan 25, 2018	Gene:100034704,MedGen:C1835826,OMIM:610805	Congenital anomalies of kidney and urinary tract 1, susceptibility to	germline	1	205169835	AGGCGCTGATATATGACCCCCTTCCCCTTCCAGGAAGTGGACGTTGTGGTAGCACCATGCC
587777696	165608	NM_004170.5(SLC1A1):c.1333C>T (p.Arg445Trp)	SLC1A1	Jan 01, 2011	MedGen:C1857253,OMIM:222730,Orphanet:ORPHA2195	Dicarboxylic aminoaciduria	germline	9	4585316	GTCTGACTCCTCCCGTCTCTCCCCAGGGACCGGTTCAGGACCATGGTCAACGTCCTTGGTG
1064794022	411249	NM_014927.4(CNKSR2):c.1282C>T (p.Arg428Ter)	CNKSR2	Aug 06, 2015	MedGen:CN517202	not provided	germline	X	21532046	GAAAAAGGAAGATCAAGTAGTCAAGGAAGACGAGAAAGCACCCCAACTTATGGTAAGAGTT
1800028	227407	NM_000511.5(FUT2):c.604C>T (p.Arg202Ter)	FUT2	Mar 18, 2016	MedGen:C2674252,OMIM:612542	Vitamin b12 plasma level quantitative trait locus 1	germline	19	48703560	CCGGGCACCTTTGTAGGGGTCCATGTTCGCCGAGGGGACTATGTCCATGTCATGCCAAAAG
786205148	187662	NM_183059.2(RD3):c.112C>T (p.Arg38Ter)	RD3	Jan 01, 2013	MedGen:C1857743,OMIM:610612	Leber congenital amaurosis 12	germline	1	211481304	ACGCTTATGATGGAGCTGACGGGGCAGATGCGAGAGGCTGAGAGGCAGCAGCGGGAGCGCA
121908673	21324	NM_002335.3(LRP5):c.758C>T (p.Thr253Ile)	LRP5	Mar 01, 2003	MedGen:C1843330,OMIM:607634,Orphanet:ORPHA2783	Osteopetrosis autosomal dominant type 1	germline	11	68363818	TGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTG
1131692304	424525	NM_000280.4(PAX6):c.403C>T (p.Gln135Ter)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	maternal	11	31800811	AGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGACGGCATGTATGATA
63750636	96378	NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter)	MSH2	Oct 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	2	47476492	GAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAG
587784033	168505	NM_133433.3(NIPBL):c.7102C>T (p.Gln2368Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37052405	GTGGCTGGTATGAAGATGTCTTACCAGGTACAACAGGCAATCAACACATGCCTAAAAGATC
121908587	28589	NM_006206.5(PDGFRA):c.2021C>T (p.Thr674Ile)	PDGFRA	Mar 27, 2003	MedGen:C4016331	Hypereosinophilic syndrome, idiopathic, resistant to imatinib	germline	4	54278380	TTGTCCCCATAGGCCCCATTTACATCATCACAGAGTATTGCTTCTATGGAGATTTGGTCAA
120074150	17859	NM_017890.4(VPS13B):c.7051C>T (p.Arg2351Ter)	VPS13B	Jun 01, 2003	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	germline	8	99720973	TATCCAGAACCTAGAGTACTCACCCTTGTACGAATAACTCCTGTACCTTTTAACACCACAG
28933384	28515	NM_000219.5(KCNE1):c.20C>T (p.Thr7Ile)	KCNE1	Nov 01, 1997	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C2676723,OMIM:612347	Congenital long QT syndrome;Jervell and Lange-Nielsen syndrome 2	germline	21	34449615	TAATGCCCAGGATGATCCTGTCTAACACCACAGCGGTGACGCCCTTTCTGACCAAGCTGTG
142371860	70498	NM_145038.4(DRC1):c.352C>T (p.Gln118Ter)	DRC1	Feb 28, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C3809087,OMIM:615294;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia;Ciliary dyskinesia, primary, 21;Kartagener syndrome	germline	2	26421396	AGGAGAGTCGAAGAAGAGGAGATAAAGCGTCAAAGGTAAGGACTGTGCTACTCTGCAGCTG
267608453	153549	NM_003159.2(CDKL5):c.352C>T (p.Gln118Ter)	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095	Atypical Rett syndrome	de novo	X	18579917	CCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATCAAGGCTATTCACTGGTGCCATA
1057518899	360993	NM_000296.3(PKD1):c.3520C>T (p.Gln1174Ter)	PKD1	Jun 11, 2015	Human Phenotype Ontology:HP:0000822,MedGen:C0497247;Human Phenotype Ontology:HP:0000113,MedGen:C0022680	Hypertension;Polycystic kidney dysplasia	unknown	16	2111647	GGGGACGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGCCTCGA
128626233	26278	NM_004006.2(DMD):c.178C>T (p.Gln60Ter)	DMD	Sep 01, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Duchenne muscular dystrophy;not provided	germline	X	32849736	CTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAA
28940896	18047	NM_000226.3(KRT9):c.478C>T (p.Leu160Phe)	KRT9	Jul 30, 2003	MedGen:C1840427;MedGen:CN517202	Palmoplantar keratoderma, epidermolytic, with knuckle pads;not provided	germline	17	41571515	ACTGCTAATGAGAAGAGCACCATGCAGGAACTCAATTCTCGGCTGGCCTCTTACTTGGATA
886042095	265309	NM_003494.3(DYSF):c.4090C>T (p.Gln1364Ter)	DYSF	Jan 26, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71611549	TCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACC
137853161	23305	NM_000445.4(PLEC):c.9085C>T (p.Arg3029Ter)	PLEC	Jan 01, 2005	MedGen:C2677349,OMIM:612138,Orphanet:ORPHA158684	Epidermolysis bullosa simplex with pyloric atresia	germline	8	143920817	ATCGACCGCGAGCTCTACCAGCAGCTGCAGCGAGGTGAGCGCTCTGTGCGAGACGTAGCCG
-1	486712	NM_001135599.3(TGFB2):c.1042C>T (p.Arg348Cys)	TGFB2	Mar 06, 2018	MedGen:C3553762,OMIM:614816	Loeys-Dietz syndrome 4	germline	1	218437368	AACAGAAATGTGCAGGATAATTGCTGCCTACGTCCACTTTACATTGATTTCAAGAGGGATC
875989885	227927	NM_001143763.1(SYCE1):c.721C>T (p.Gln241Ter)	SYCE1	May 19, 2016	MedGen:C4310782,OMIM:616947	Premature ovarian failure 12	germline	10	133555706	TGCTGACCACCCCCTACTGGGCCCCCCAGGCAGCTGTTTCAGGAAGAGCACAGGAAGGCTG
149998588	202009	NM_018100.3(EFHC1):c.1612C>T (p.Arg538Ter)	EFHC1	Jan 17, 2013	MedGen:CN517202	not provided	germline	6	52479759	CTCGCGTCAATTCAGAACCATGTCCGAAAGCGAGAAGCGCCTGCTCCAGAAGCAGAAAGGT
-1	481081	NM_001110556.1(FLNA):c.853C>T (p.Arg285Cys)	FLNA	-	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	inherited	X	154367412	TTGCGGCCCAAACTGAACCCGAAGAAAGCCCGTGCCTACGGGCCAGGTGAGGGAGCCCCAC
374703898	214262	NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter)	CSPP1	Apr 05, 2017	MedGen:C3810212,OMIM:615636;MedGen:CN517202	Joubert syndrome 21;not provided	germline;unknown	8	67111983	TTCTCATACCACTATCTAGGAGGTGAAGATCGAGAACTTATTCAGAGAAGGAAAGAGAAAT
121918286	17780	NM_004183.3(BEST1):c.598C>T (p.Arg200Ter)	BEST1	Jan 01, 2008	MedGen:C3888198,OMIM:611809,Orphanet:ORPHA139455	Bestrophinopathy, autosomal recessive	germline	11	61956960	AACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCC
772599282	440092	NM_025132.3(WDR19):c.2563C>T (p.Gln855Ter)	WDR19	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	4	39244470	TAGTATTTTAATAATCCTGTCTTATTTTAGCAATTTTCAGAAGCGGCCCAACTGTATGAAA
267607587	77824	NM_170707.3(LMNA):c.736C>T (p.Gln246Ter)	LMNA	Jan 14, 2013	MedGen:CN517202	not provided	germline	1	156134901	GAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGG
886041361	264847	NM_000444.5(PHEX):c.1543C>T (p.Gln515Ter)	PHEX	Apr 19, 2017	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline	X	22178333	AACGTCCTACAAACTCGCAAGTATTTAGCACAGTCTGATTTCTTCTGGCTAAGAAAAGCCG
121913122	31274	NM_000143.3(FH):c.1027C>T (p.Arg343Ter)	FH	Sep 18, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple cutaneous leiomyomas;not provided	germline	1	241504123	TGCAGTCTGATGAAGATAGCAAATGATATTCGATTTTTGGGTTCTGGTCCTCGGTCAGGTC
28942073	18917	NM_000521.3(HEXB):c.1250C>T (p.Pro417Leu)	HEXB	Nov 12, 2016	MedGen:C0036161,OMIM:268800,Orphanet:ORPHA796,SNOMED CT:23849003;MedGen:C1849320;MedGen:C1849321;MedGen:CN517202	Sandhoff disease;Sandhoff disease, adult type;Sandhoff disease, juvenile type;not provided	germline;unknown	5	74718804	ATTGCAATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAAGACAG
587777660	153789	NM_001288767.1(ARMC5):c.541C>T (p.Gln181Ter)	ARMC5	Nov 28, 2013	MedGen:C4014803,OMIM:615954	Acth-independent macronodular adrenal hyperplasia 2	germline	16	31459780	CGAGCGGCTGCAGCGGGTTCCGCCCCGTCCCAGGCAGGCCCCGGCTCCGCCCCCTCGTCGG
199422194	34486	NM_018136.4(ASPM):c.9697C>T (p.Arg3233Ter)	ASPM	Apr 14, 2017	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197090328	AAAAATGATTGTACAAAAATTAAAGCTATACGACTAAGTCTTCAAGTTGTTAATAGGGAGA
370340361	461694	NM_000317.2(PTS):c.200C>T (p.Thr67Met)	PTS	May 24, 2017	MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13	6-pyruvoyl-tetrahydropterin synthase deficiency	germline	11	112230639	CTTTGTTTATTCTTTAGATTGACCCTGCTACGGGAATGGTTATGAATCTGGCTGATCTCAA
863224148	212004	NM_000284.3(PDHA1):c.214C>T (p.Arg72Cys)	PDHA1	Mar 21, 2017	MedGen:CN517202	not provided	germline	X	19350033	CTCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGT
267608659	153536	NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter)	CDKL5	Jan 01, 2018	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo;germline	X	18625164	AATTCCGACAGCCCTGATCTTCTGACGTTGCAGAAATCCATTCATTCTGCTAGCACTCCAA
28934608	26937	NM_000128.3(F11):c.976C>T (p.Arg326Cys)	F11	Dec 01, 1999	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	germline	4	186280333	GCCTGCCAGAAACTGTGCACCAATGCCGTCCGCTGCCAGTTTTTTACCTATACCCCAGCCC
121912931	32234	NM_001851.4(COL9A1):c.883C>T (p.Arg295Ter)	COL9A1	Sep 11, 2014	MedGen:C1852831,OMIM:614134	Stickler syndrome, type 4	germline	6	70281033	TCTCTTTTTCTCCTACCCCTCCAGGGTGACCGAGGTCCTAAGGGCCCCCCGGGCCCCCCGG
876657413	228227	NM_006459.3(ERLIN1):c.763C>T (p.Arg255Ter)	ERLIN1	Jan 31, 2014	MedGen:C4284588,OMIM:615681,Orphanet:ORPHA401785	Spastic paraplegia 62, autosomal recessive	germline	10	100154922	GTTTATTTGCTAGATGCTGCATTCCTGGCCCGAGAGAAAGCGAAAGCAGATGCTGAATATT
1057519423	362385	NM_017780.3(CHD7):c.1552C>T (p.Gln518Ter)	CHD7	-	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	de novo	8	60742984	TTTCAGCAGTTGCCAACCTGTCCTCCACTGCAGCCTCACCCGGGCTTGCACCACCAGTCTT
587777672	153828	NM_005876.4(SPEG):c.6697C>T (p.Gln2233Ter)	SPEG	Aug 07, 2014	MedGen:C4014814,OMIM:615959	Myopathy, centronuclear, 5	germline	2	219484160	GTCCGAGCCTCCAAGCCTGCACCACCCCCCCAGGCCCTGCAAACCCTAGCGCTGCCCCTCA
1085307184	414113	NM_001204.6(BMPR2):c.244C>T (p.Q82*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464976	AAATCAAAAGGGGACATAAATCTTGTAAAACAAGGCAAGTGATACTTTCCTTACCTGAAAT
137854452	31761	NM_000501.3(ELN):c.1324C>T (p.Gln442Ter)	ELN	Jan 16, 2017	Human Phenotype Ontology:HP:0004381,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED CT:268185002;MedGen:CN517202	Supravalvar aortic stenosis;not provided	germline	7	74056680	TTTCTTTCTCGTTTCCTTGTAGCCGAAGCTCAGGCAGCAGCTGCCGCCAAGGCTGCCAAGT
779003155	362304	NM_001005463.2(EBF3):c.625C>T (p.Arg209Trp)	EBF3	Feb 07, 2017	MedGen:C4310618,OMIM:617330	Hypotonia, ataxia, and delayed development syndrome	germline	10	129877779	TTGAAGAATGCAGGCAACCCTCGAGATATGCGGAGATTCCAGGTATACATTTCTCAAAGAC
727503513	172503	NM_001001430.2(TNNT2):c.280C>T (p.Arg94Cys)	TNNT2	Aug 21, 2017	MedGen:C1861864,OMIM:115195;MedGen:C0340429,Orphanet:ORPHA217635,SNOMED CT:233878008;MedGen:CN517202	Familial hypertrophic cardiomyopathy 2;Familial restrictive cardiomyopathy;not provided	germline	1	201365292	GCGGTCCACCCACAGGACATCCACCGGAAGCGCATGGAGAAGGACCTGAATGAGTTGCAGG
879253845	224626	NM_000255.3(MUT):c.1655C>T (p.Ala552Val)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49444660	CTAGCGGAGATGGAAATATCCTGGCTCTTGCAGTGGATGCATCTCGGGCAAGGTGAAGATA
397514498	48023	NM_004069.4(AP2S1):c.43C>T (p.Arg15Cys)	AP2S1	May 09, 2017	MedGen:C1833372,OMIM:600740,Orphanet:ORPHA101050	Hypocalciuric hypercalcemia, familial, type III	germline	19	46846103	ATCCTCATCCAGAACCGGGCAGGCAAGACGCGCCTGGCCAAGTGGTACATGCAGTTTGATG
80358472	65877	NM_000059.3(BRCA2):c.1825C>T (p.Gln609Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32333303	TCTTATAAAGGAAAAAAAATACCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCC
281865110	39630	NM_024747.5(HPS6):c.913C>T (p.Gln305Ter)	HPS6	Dec 01, 2009	MedGen:C3888007,OMIM:614075	Hermansky-Pudlak syndrome 6	germline	10	102066387	CACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTG
587783899	168353	NM_133433.3(NIPBL):c.2260C>T (p.Arg754Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36985440	CCTGAAACTCCAAAGCAAAAAAATGAAGGGCGACCTGAAACACCAAAACACAGGCATGACA
750811871	369575	NM_153033.4(KCTD7):c.631C>T (p.Arg211Ter)	KCTD7	Mar 24, 2015	MedGen:CN517202	not provided	germline	7	66638993	CCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAGC
387907312	45874	NM_006516.2(SLC2A1):c.634C>T (p.Arg212Cys)	SLC2A1	Apr 06, 2016	MedGen:C1832855,OMIM:601042,Orphanet:ORPHA53583;MedGen:CN517202	Dystonia 9;not provided	germline	1	42929918	ATCGTGCTGCCCTTCTGCCCCGAGAGTCCCCGCTTCCTGCTCATCAACCGCAACGAGGAGA
587783364	167921	NM_003688.3(CASK):c.2470C>T (p.Gln824Ter)	CASK	Feb 08, 2013	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline	X	41531042	AAACTGGAGACCATCCGGAAGATCCACGAGCAGGGGCTGATTGCAATACTGGACGTGGAGC
112371422	107174	NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter)	COL3A1	May 11, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007569	GAACGTGGAGCTGCTGGCATCAAAGGACATCGAGGATTCCCTGGTAATCCAGGTGCCCCAG
147149459	264886	NM_021628.2(ALOXE3):c.1889C>T (p.Pro630Leu)	ALOXE3	Apr 21, 2017	MedGen:CN517202	not provided	germline	17	8103390	CCACCCTGAAGACTTACCTAGACACCCTCCCTGAAGTGAACATCAGCTGTAACAACCTCCT
281865269	105671	NM_004183.3(BEST1):c.920C>T (p.Thr307Ile)	BEST1	Apr 30, 2015	MedGen:CN517202	not provided	germline	11	61959550	CCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGT
775836288	442177	NM_000435.2(NOTCH3):c.328C>T (p.Arg110Cys)	NOTCH3	Mar 07, 2017	MedGen:CN517202	not provided	germline	19	15192389	GGCACCGCCCGATTCTCATGCCGGTGCCCCCGTGGCTTCCGAGGTGAGAGGGGAAGAGTCT
724159971	172085	NM_152778.2(MFSD8):c.1444C>T (p.Arg482Ter)	MFSD8	Jan 06, 2017	MedGen:C1838571,OMIM:610951,Orphanet:ORPHA228366;MedGen:CN517202	Ceroid lipofuscinosis neuronal 7;not provided	germline;maternal	4	127920743	ATCAGCCAAGTGTATGCTCACTGGGGACCACGATGGGCATTCAGCCTGGTGTGTGGAATAA
28940281	17565	NM_014629.3(ARHGEF10):c.995C>T (p.Thr332Ile)	ARHGEF10	Aug 26, 2011	MedGen:C1842357,OMIM:608236,Orphanet:ORPHA140481	Slowed nerve conduction velocity, autosomal dominant	germline	8	1882669	AGAAGCTCGTGAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGACCAGGGCAGC
80338963	23582	NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys)	SMAD4	Jun 16, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;MedGen:C0027672,SNOMED CT:699346009;na;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005;MedGen:C1832942,OMIM:175050;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MeSH:D002583,MedGen:CN236667;MedGen:CN517202	Adenocarcinoma of lung;Adenocarcinoma of stomach;Carcinoma of esophagus;Colorectal Neoplasms;Hereditary cancer-predisposing syndrome;JP, JP/HHT, and HHT;Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Neoplasm of the breast;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Uterine cervical neoplasms;not provided	germline;somatic;unknown	18	51065548	GATGGATACGTGGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCC
28933973	28750	NM_001083116.2(PRF1):c.673C>T (p.Arg225Trp)	PRF1	Jun 14, 2016	MedGen:C0272199,SNOMED CT:398250003;MedGen:C1863727,OMIM:603553	Familial hemophagocytic lymphohistiocytosis;Hemophagocytic lymphohistiocytosis, familial, 2	germline	10	70599048	CTTATCTCCAACTACGGCACCCACTTCATCCGGGCTGTGGAGCTGGGTGGCCGCATATCGG
119472027	19102	NM_014080.4(DUOX2):c.2056C>T (p.Gln686Ter)	DUOX2	Jul 11, 2002	MedGen:C1846632,OMIM:607200	Thyroid dyshormonogenesis 6	germline	15	45106217	AACAGGCATCTCACTGTGCTCCGTGTGGTCCAGCTGCAGCCTCTGCAGCAGGTCAACCTCA
28940585	17437	NM_000048.3(ASL):c.283C>T (p.Arg95Cys)	ASL	Dec 01, 1990	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66082443	GATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCCACC
398123991	100570	NM_004006.2(DMD):c.5554C>T (p.Gln1852Ter)	DMD	-	MedGen:C3668940,OMIM:302045	Dilated cardiomyopathy 3B	germline	X	32345975	AGAAAGCGAGAGGAAATAAAGATAAAACAGCAGCTGTTACAGACAAAACATAATGCTCTCA
758595075	248763	NM_013328.3(PYCR2):c.595C>T (p.Arg199Trp)	PYCR2	Sep 16, 2016	MedGen:C4225332,OMIM:616420	Leukodystrophy, hypomyelinating, 10	germline	1	225921590	GCTGATGGTGGGGTGAAGATGGGTTTGCCACGGCGCCTGGCAATCCAACTCGGGGCCCAGG
74315322	19689	NM_006118.3(HAX1):c.568C>T (p.Gln190Ter)	HAX1	Jan 01, 2007	MedGen:CN032247,OMIM:610738	Severe congenital neutropenia 3, autosomal recessive	germline	1	154275165	CATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTC
1057517715	360672	NM_000390.3(CHM):c.1213C>T (p.Gln405Ter)	CHM	Mar 03, 2016	MedGen:CN517202	not provided	germline	X	85911292	GGTGGAATTTATTGTCTTCGCCATTCAGTACAGTGCCTTGTAGTGGACAAAGAATCCAGAA
757222354	178792	NM_000081.3(LYST):c.5506C>T (p.Arg1836Ter)	LYST	Jan 15, 2015	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	germline	1	235775041	AGCTGTGAAGAAACTCAAGCATTAGCACTGCGAGTTATACTCTCATTAATTAAATACAACC
121434220	18075	NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter)	ATM	Jul 31, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108330233	TTCTATGCAAGATACACAGTAAAGGTTCAGCGAGAGCTGGAGTTGGATGAATTAGCCCTGC
374470794	191317	NM_000152.4(GAA):c.1802C>T (p.Ser601Leu)	GAA	Nov 19, 2014	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80112625	GGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGG
1064794261	410503	NM_001127221.1(CACNA1A):c.5396C>T (p.Ser1799Leu)	CACNA1A	Feb 17, 2017	MedGen:CN517202	not provided	germline	19	13231717	TTTACTTTGTTTCCTTCATCTTCCTCTGCTCGTTTCTGGTGAGTCTGTGGACACTGTGAGG
121964959	27050	NM_000532.4(PCCB):c.1228C>T (p.Arg410Trp)	PCCB	Dec 13, 2016	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136327184	GGCACAGCACAGGAATACGGGGGCATCATCCGGCATGGTGCCAAGCTTCTCTACGCATTTG
1057519301	361814	NM_020738.3(KIDINS220):c.4096C>T (p.Gln1366Ter)	KIDINS220	Jan 11, 2017	MedGen:C4284592,OMIM:617296	Spastic paraplegia, intellectual disability, nystagmus, and obesity	germline	2	8731940	AGAACCCCAAGTCTTTCGAGTCTCAATTCCCAGGATTCCAGTATTGAAATTTCAAAGCTTA
886039526	259901	NM_017780.3(CHD7):c.550C>T (p.Gln184Ter)	CHD7	Dec 18, 2015	MedGen:CN517202	not provided	germline	8	60741982	CCGTCGGGGCCCCCTGCACAGGGCCACCCTCAGCACATGCAGCAGATGGGCAGCTATATGG
104894881	26066	NM_198270.3(NHS):c.115C>T (p.Gln39Ter)	NHS	Jan 01, 2005	MedGen:C0796085,OMIM:302350,SNOMED CT:445257004	Nance-Horan syndrome	germline	X	17375872	GGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGG
104894780	26637	NM_178151.2(DCX):c.574C>T (p.Arg192Trp)	DCX	Dec 22, 2016	Human Phenotype Ontology:HP:0002282,MedGen:C0008519;MedGen:C1848199,OMIM:300067,Orphanet:ORPHA2148;MedGen:C1848070;MedGen:CN517202	Heterotopia;Lissencephaly, X-linked;Subcortical laminar heterotopia, X-linked;not provided	germline	X	111401121	GTTACCATCATCCGCAGTGGGGTGAAGCCTCGGAAGGCTGTGCGTGTGCTTCTGAACAAGA
5030868	25407	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD	Sep 11, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;MedGen:C1851319,OMIM:134700;na;na;na;MedGen:C0017758,Orphanet:ORPHA362;MedGen:C1970028,OMIM:611162;MedGen:CN517202	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Favism, susceptibility to;G6PD CAGLIARI;G6PD MEDITERRANEAN;G6PD SASSARI;Glucose 6 phosphate dehydrogenase deficiency;Susceptibility to malaria;not provided	germline;paternal;unknown	X	154534419	AGAGCTCTGACCGGCTGTCCAACCACATCTCCTCCCTGTTCCGTGAGGACCAGATCTACCG
63750706	95772	NM_000249.3(MLH1):c.62C>T (p.Ala21Val)	MLH1	Nov 24, 2015	MedGen:C2936783,OMIM:120435	Lynch syndrome I	germline	3	36993609	TGGACGAGACAGTGGTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGC
1060501109	397642	NM_016169.3(SUFU):c.436C>T (p.Arg146Ter)	SUFU	Jun 13, 2017	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;MedGen:CN517202	Gorlin syndrome;Medulloblastoma;not provided	germline	10	102550088	TGGCCCGCAGAGTTAATGCAGGGCTTGGCACGATACGTGTTCCAGTCAGGTAGGAGGCCAG
754130052	263458	NM_080675.3(SUN5):c.1066C>T (p.Arg356Cys)	SUN5	Nov 07, 2016	MedGen:C4310674,OMIM:617187	Spermatogenic failure 16	germline	20	32983868	TGGGGGAACCCAGGCTTCACTTGCCTGTACCGCGTGCGAGTGCATGGCTCTGTGGCCCCGC
758264018	467220	NM_017534.5(MYH2):c.3331C>T (p.Gln1111Ter)	MYH2	Jul 03, 2017	MedGen:C1854106,OMIM:605637	Inclusion body myopathy 3	germline	17	10529185	GAAGATGAACAGGCACTTGGCATTCAATTGCAGAAGAAAATTAAAGAATTGCAAGTAAGTA
377767332	36149	NM_005359.5(SMAD4):c.538C>T (p.Gln180Ter)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51054864	CCATCGTTGTCCACTGAAGGACATTCAATTCAAACCATCCAGCATCCACCAAGTAATCGTG
72554636	209214	NM_000052.6(ATP7A):c.1225C>T (p.Arg409Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	77989847	ATATCAAAAAAGCCAGGTGTAAAATCCATACGAGTCTCCCTTGCAAATAGCAATGGGACTG
121918324	23735	NM_001122764.2(PPOX):c.175C>T (p.Arg59Trp)	PPOX	Feb 14, 2013	MedGen:C0162532,OMIM:176200,Orphanet:ORPHA79473,SNOMED CT:58275005	Variegate porphyria	germline	1	161167187	CCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGG
80357063	131091	NM_007294.3(BRCA1):c.2309C>T (p.Ser770Leu)	BRCA1	Jun 06, 2005	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43093222	CTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCA
797045445	207864	NM_000076.2(CDKN1C):c.694C>T (p.Gln232Ter)	CDKN1C	Jan 09, 2015	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002	Beckwith-Wiedemann syndrome	germline	11	2884796	GAGAGCGCCGAGCAGGGCGCGAACCAGGGGCAGCGCGGCCAGGAGCCTCTCGCTGACCAGC
28934874	27409	NM_000546.5(TP53):c.451C>T (p.Pro151Ser)	TP53	Sep 13, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;MeSH:D003528,MedGen:C0010606;MedGen:C0858252,Orphanet:ORPHA213528;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MedGen:CN517202	Adenocarcinoma of lung;Adenocarcinoma of stomach;Adenoid cystic carcinoma;Breast adenocarcinoma;Carcinoma of esophagus;Colorectal Neoplasms;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;not provided	germline;somatic	17	7675161	TGCCCTGTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCGCGTCCGCGCCATGG
121918321	21769	NM_003165.3(STXBP1):c.1162C>T (p.Arg388Ter)	STXBP1	Aug 11, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 4;not provided	germline	9	127675855	GCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCA
121913585	29216	NM_000530.7(MPZ):c.188C>T (p.Ser63Phe)	MPZ	Dec 01, 1995	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161307304	GGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGG
80356499	34145	NM_001457.3(FLNB):c.602C>T (p.Ala201Val)	FLNB	Oct 09, 2008	MedGen:C3668942,OMIM:108721,Orphanet:ORPHA56305	Atelosteogenesis type 3	not provided	3	58078777	CGCAGAAGCCTGTGGATAATGCACGAGAAGCCATGCAGCAGGCAGATGACTGGCTGGGTGT
1135401761	424625	NM_001029882.3(AHDC1):c.3814C>T (p.Arg1272Ter)	AHDC1	Aug 01, 2017	MedGen:C4014419,OMIM:615829,Orphanet:ORPHA412069	Xia-Gibbs syndrome	de novo	1	27548302	TCCAAACGGAGCACTGGGCCCCGGCAGCCGCGAGGTGGACGGGGCGGTGGGGCCTGCTCAG
137852858	17699	NM_198428.2(BBS9):c.1063C>T (p.Gln355Ter)	BBS9	Dec 01, 2005	MedGen:C1859567,OMIM:615986	Bardet-Biedl syndrome 9	germline	7	33336487	ATAGTCACTCTGAGTGATGATGGTCACTTGCAGTGTTCATACCTGGGGACAGATCCTTCTC
104894110	22025	NM_004473.3(FOXE1):c.194C>T (p.Ala65Val)	FOXE1	Mar 01, 2011	MedGen:C1855794,OMIM:241850,Orphanet:ORPHA1226	Bamforth syndrome	germline	9	97854108	CCTACAGCTACATCGCGCTCATCGCCATGGCCATCGCGCACGCGCCCGAGCGCCGCCTCAC
201822162	264578	NM_018451.4(CENPJ):c.40C>T (p.Gln14Ter)	CENPJ	Oct 06, 2016	MedGen:CN517202	not provided	germline	13	24912986	ATGCCAACCTCTTCAGAGTTAAACAGTGGGCAGAACTTCCTAACCCAGTGGATGACCAATC
768713596	210257	NM_005902.3(SMAD3):c.277C>T (p.Arg93Ter)	SMAD3	Apr 22, 2017	MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	67164965	CTCCCTCATGTCATCTACTGCCGCCTGTGGCGATGGCCAGACCTGCACAGCCACCACGAGC
398124523	102361	NM_144997.5(FLCN):c.1060C>T (p.Gln354Ter)	FLCN	Dec 27, 2012	MedGen:CN517202	not provided	germline	17	17219021	CCAGTCTTCAAGTCCCTCCGGCACATGAGGCAGGTAGGCGGCAGGGGCACAGCGCATCAGG
868369541	414292	NM_001204.6(BMPR2):c.1348C>T (p.Q450*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202542382	GTTGGAAACCATCCCACTTTTGAGGATATGCAGGTTCTCGTGTCTAGGGAAAAACAGAGAC
1060502581	392462	NM_001204.6(BMPR2):c.961C>T (p.Arg321Ter)	BMPR2	Aug 30, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202520195	GGACTGGCTTATCTTCACACAGAATTACCACGAGGAGGTAAGATAGTCAATAGATGAAATT
373458753	273616	NM_000026.3(ADSL):c.907C>T (p.Arg303Cys)	ADSL	Jul 26, 2016	MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008	Adenylosuccinate lyase deficiency	germline	22	40361532	CCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGA
386834039	71249	NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter)	POMGNT1	Jul 20, 2017	MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001;MedGen:CN517202	Muscle eye brain disease;not provided	germline	1	46193874	AATGTGCCTGTGGCTGTCATTGCAGGGAACCGACCCAATTACCTGTACAGGTAAGCCTGGG
121909105	22313	NM_005603.5(ATP8B1):c.1804C>T (p.Arg602Ter)	ATP8B1	Oct 15, 2004	MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Progressive intrahepatic cholestasis	germline	18	57674849	GCCATTTTGGACTTCAACAGTGACCGGAAGCGAATGTCTATCATTGGTAAGTCCCCCTCAG
193922916	33145	NM_000484.3(APP):c.2018C>T (p.Ala673Val)	APP	Mar 13, 2009	Human Phenotype Ontology:HP:0002511,MedGen:C0002395,OMIM:104300,SNOMED CT:26929004	Alzheimer's disease	germline	21	25897619	CGGAGGAGATCTCTGAAGTGAAGATGGATGCAGAATTCCGACATGACTCAGGATATGAAGT
397515450	75105	NM_005592.3(MUSK):c.2180C>T (p.Ala727Val)	MUSK	Jun 15, 2010	MedGen:C4225368,OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	germline	9	110800558	CAGAACGTAAGTTTGTTCACCGAGATTTAGCCACCAGGAACTGCCTGGTGGGCGAGAACAT
80338856	34127	NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys)	DHCR7	May 26, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71438986	TGGTTTGACTTCAAGCTGTTCTTCAATGGGCGCCCCGGGATCGTCGCCTGGACCCTCATCA
794726710	187772	NM_001165963.1(SCN1A):c.3637C>T (p.Arg1213Ter)	SCN1A	Sep 14, 2017	Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Seizures;Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166013812	CAATGGTGGAACCTGAGAAGGACGTGTTTCCGAATAGTTGAACATAACTGGTTTGAGACCT
121912758	32813	NM_000342.3(SLC4A1):c.1936C>T (p.Arg646Trp)	SLC4A1	Jan 01, 2000	na	SWANN BLOOD GROUP ANTIGEN	germline	17	44254617	GATGGCTTCAAGGTGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGCTTGC
587777691	165514	NM_004447.5(EPS8):c.88C>T (p.Gln30Ter)	EPS8	Apr 17, 2014	MedGen:C3892050,OMIM:615974	Deafness, autosomal recessive 102	germline	12	15681274	AGTGGCTACGGATCATCACCTACCTTTTCCCAGACGGACAGAGAACATGGTTCAAAAACAA
199473673	39961	NM_025099.5(CTC1):c.680C>T (p.Ala227Val)	CTC1	Mar 09, 2012	MedGen:C2677299,OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts 1	germline	17	8237487	ACAAGCTCAGAGGTGTGCAGCGAAACCTGGCTGGGAGTCTAGTTCGATTGAGTGCTCTGGT
367809750	264180	NM_022455.4(NSD1):c.1288C>T (p.Gln430Ter)	NSD1	Oct 11, 2016	MedGen:CN517202	not provided	germline	5	177209687	AAATGGGAAGCCAGTGTTGGACTTGCAGAACAGTATGATGTTCCCAAGGGGTCAAAGAACC
121912573	23610	NM_000901.4(NR3C2):c.2453C>T (p.Ser818Leu)	NR3C2	Nov 01, 2006	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline	4	148152526	GTCTATCATCATTTGCCTTGAGCTGGAGATCGTACAAACATACGAACAGCCAATTTCTCTA
387907152	40206	NM_001256714.1(DNAAF3):c.469C>T (p.Arg157Ter)	DNAAF3	Sep 03, 2015	MedGen:C1847554,OMIM:606763;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia, primary, 2;Kartagener syndrome	germline	19	55165427	GTGCTGGAGAATAATCTGGAAGCTGTGGCCCGACACATGCTGATCTTCAGCCTAGCCCTGG
387907273	45738	NM_015631.5(TCTN3):c.1327C>T (p.Gln443Ter)	TCTN3	Aug 10, 2012	MedGen:C0406727,OMIM:258860,SNOMED CT:239031000	Orofacial-digital syndrome IV	germline	10	95682776	AGGTTGAAGAAGGCAGACTGCAGCCACTTGCAGCAGGAGATTTATCAGACTCTTCATGGAA
121912524	29431	NM_000233.3(LHCGR):c.1660C>T (p.Arg554Ter)	LHCGR	Feb 22, 1996	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008;MedGen:C2673498	Leydig cell agenesis;Luteinizing hormone resistance, female	germline	2	48688137	GCTTGCTACATTAAAATTTATTTTGCAGTTCGAAACCCAGAATTAATGGCTACCAATAAAG
137852860	16888	NM_024728.2(SUGCT):c.895C>T (p.Arg299Trp)	SUGCT	Apr 21, 2015	MedGen:C0342873,OMIM:231690,Orphanet:ORPHA35706,SNOMED CT:238070003;MedGen:CN517202	Glutaryl-CoA oxidase deficiency;not provided	germline	7	40459197	AGAAAAGAGCTTATTAAAATATTATCTGAACGGTAAGTTTGGATGTTGTATTCATCCATTT
150766139	190112	NM_002528.6(NTHL1):c.268C>T (p.Gln90Ter)	NTHL1	Jun 01, 2015	MedGen:C4225157,OMIM:616415,Orphanet:ORPHA454840	Familial adenomatous polyposis 3	unknown	16	2046238	GAGCCCCTCAAGGTGCCAGTCTGGGAGCCCCAGGACTGGCAGCAACAGCTGGTCAACATCC
397509171	69858	NM_007294.3(BRCA1):c.4399C>T (p.Gln1467Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43076573	TCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGT
886040996	262661	NM_017780.3(CHD7):c.6148C>T (p.Arg2050Ter)	CHD7	Sep 05, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60852873	TCCTCCATAATTGAGCCGATCACAGAGGAGCGAGCCTCTCGAACTCTGTACCGCATTGAGC
886039331	260115	NM_004380.2(CREBBP):c.6010C>T (p.Arg2004Ter)	CREBBP	Feb 21, 2016	MedGen:CN517202	not provided	germline	16	3729037	CAGATGGCCCCCGTGAGCCTGAATGTGCCCCGACCCAACCAGGTGAGCGGGCCCGTCATGC
199475575	108459	NM_000277.2(PAH):c.526C>T (p.Arg176Ter)	PAH	Aug 04, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102855316	TGCCTGTATTCTAGTGGGCAGCCCATCCCTCGAGTGGAATACATGGAGGAAGAAAAGAAAA
769931291	406664	NM_001135243.1(TCOF1):c.2140C>T (p.Gln714Ter)	TCOF1	Mar 06, 2017	MedGen:CN517202	not provided	germline	5	150376328	GAGAAGACAGGTCTTGCAGTAACCGTGGGACAGGTGAGGCCTGTGTTTTCTGGGCGGGCCT
794726993	190826	NM_004006.2(DMD):c.1093C>T (p.Gln365Ter)	DMD	Aug 09, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	32645020	CTTCTTTCTGCTGAGGACACATTGCAAGCACAAGGAGAGATTTCTAATGATGTGGAAGTGG
387906958	39581	NM_016013.3(NDUFAF1):c.631C>T (p.Arg211Cys)	NDUFAF1	Oct 01, 2011	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	15	41394987	GATTGGTCCCAGTTCAATACTCTGTATCTCCGTGTACGTGGGGATGGTCGGCCTTGGATGG
200002200	263938	NM_002016.1(FLG):c.6109C>T (p.Arg2037Ter)	FLG	Dec 15, 2016	MedGen:CN517202	not provided	germline	1	152308777	GCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACA
72558417	103167	NM_000531.5(OTC):c.626C>T (p.Ala209Val)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403703	ATATCCTGCACTCCATCATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAGGCAGCTAC
137852767	23782	NM_004168.3(SDHA):c.1571C>T (p.Ala524Val)	SDHA	Feb 10, 2017	MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208;MedGen:CN517202	Mitochondrial complex II deficiency;not provided	germline	5	251011	TTGTGCCACAGTCAATGCAAAATCATGCTGCCGTGTTCCGTGTGGGAAGCGTGTTGCAAGA
62625303	68931	NM_007294.3(BRCA1):c.1471C>T (p.Gln491Ter)	BRCA1	Jul 05, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43094060	CTAATTATAGGAGCATTTGTTACTGAGCCACAGATAATACAAGAGCGTCCCCTCACAAATA
397517323	55085	NM_022124.5(CDH23):c.3481C>T (p.Arg1161Ter)	CDH23	Jun 16, 2015	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71725422	CGGATCCATGTCAGCAATGGGCTCCTGATGCGAGGGCCCCGGCCCCTGGACCGGGAGCGGA
398123059	76992	NM_012160.4(FBXL4):c.1555C>T (p.Gln519Ter)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98875562	GAGCTTGACCTTGGCTGGTGCCCAACTCTGCAGAGCAGCACCGGGTGCTTCACCAGACTGG
137852508	45052	NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter)	IL2RG	Sep 29, 2016	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006;MedGen:CN517202	X-linked severe combined immunodeficiency;not provided	germline	X	71108336	CCCTCTTTCTCCCCTGTCAGGACGATGCCCCGAATTCCCACCCTGAAGAACCTAGAGGATC
587782130	151660	NM_002485.4(NBN):c.1474C>T (p.Gln492Ter)	NBN	Jul 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;not provided	germline	8	89953615	AGAATAGAAACGTCTTGTTCTCTTTTAGAACAAACACAACCTGCTACACCCTCATTGTGGA
137854539	30992	NM_001077488.3(GNAS):c.347C>T (p.Pro116Leu)	GNAS	Oct 01, 2001	Human Phenotype Ontology:HP:0000852,MedGen:C0033806,OMIM:103580,Orphanet:ORPHA97593;MedGen:C0033835,OMIM:612463,Orphanet:ORPHA79445,SNOMED CT:237659007	Pseudohypoparathyroidism type 1A;Pseudopseudohypoparathyroidism	germline	20	58903703	CCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCA
121908470	20840	NM_139025.4(ADAMTS13):c.587C>T (p.Thr196Ile)	ADAMTS13	Jan 15, 2004	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133426246	CTGATGGTAACCGGCAGGTGCGGGGCGTCACCCAGCTGGGCGGTGCCTGCTCCCCAACCTG
80356590	34683	NM_194248.2(OTOF):c.2122C>T (p.Arg708Ter)	OTOF	Mar 26, 2012	MedGen:C1832828,OMIM:601071;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 9;Nonsyndromic hearing loss and deafness	germline	2	26479356	AGGAACTACTTCCATCTGCCCTACCTGGAGCGAAAGCCCTGCATCTACATCAAGAGCTGGT
1064796854	411338	NM_001039590.2(USP9X):c.7207C>T (p.Gln2403Ter)	USP9X	Mar 16, 2017	MedGen:CN517202	not provided	germline	X	41229398	GCTCTATTTAGTAACTGTCCTGTTGCTTACCAAATCCTGCAGGTGAGGATTTTTTTCTTAT
61750145	105172	NM_000350.2(ABCA4):c.4457C>T (p.Pro1486Leu)	ABCA4	Nov 18, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94029527	AGCAGAAATGGACACAGGTCAACCCTTCACCATCCTGCAGGTGCAGCACCAGGGAGAAGCT
397509299	70305	NM_007294.3(BRCA1):c.55C>T (p.Gln19Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43124042	GAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAG
192919234	208816	NM_020461.3(TUBGCP6):c.895C>T (p.Arg299Ter)	TUBGCP6	Dec 12, 2014	MedGen:CN233046	Microcephaly and chorioretinopathy with or without mental retardation	germline	22	50240214	TATGAGGCCAGCAAGCGGAGGTGCTGGGAGCGAGTTGGCTGGTGTGTGCCCTTCTTTGCCT
128620187	26383	NM_000061.2(BTK):c.37C>T (p.Arg13Ter)	BTK	Aug 18, 2011	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101375248	GCAGTGATTCTGGAGAGCATCTTTCTGAAGCGATCCCAACAGAAAAAGAAAACATCACCTC
121909595	31976	NM_006891.3(CRYGD):c.43C>T (p.Arg15Cys)	CRYGD	Sep 01, 2007	Human Phenotype Ontology:HP:0010926,MedGen:C1861832,OMIM:115700	Cataract 4	germline	2	208124321	ACCCTCTACGAGGACCGGGGCTTCCAGGGCCGCCACTATGAATGCAGCAGCGACCACCCCA
759031330	224594	NM_005957.4(MTHFR):c.1033C>T (p.Arg345Cys)	MTHFR	Dec 03, 2004	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11794862	CTCAATTCTCTGTCCCCATCCTCACCCAGGCGTCCCCTACCCTGGGCTCTCAGCGCCCACC
3092891	28110	NM_000321.2(RB1):c.1333C>T (p.Arg445Ter)	RB1	Jul 07, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline	13	48379594	GCTCTTATTTTTCTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACC
1057520634	368219	NM_014382.3(ATP2C1):c.2197C>T (p.Gln733Ter)	ATP2C1	Apr 28, 2015	MedGen:CN517202	not provided	germline	3	130996750	ATGAACTTTCCTAATCCTCTCAATGCCATGCAGATTTTGTGGATCAATATTATTATGGATG
863225158	214223	NM_023073.3(CPLANE1):c.2275C>T (p.Gln759Ter)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37226320	AAGATTCATCCTCAAGTAGTAAATCCTGTGCAACAGCCAGGACACAGGTATAATCACTTAT
267607188	25904	NM_001111125.2(IQSEC2):c.1075C>T (p.Arg359Cys)	IQSEC2	Jun 01, 2010	Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530	Mental retardation, X-linked 1	germline	X	53254856	AGGGCTGCCAGGACCATCCAGACAGCCTTCCGCCAGTACCGCATGAACAAGAACTTTGAGC
397515812	51535	NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter)	FBN1	Jan 05, 2018	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48468427	TGCCCACCTGATTTTGAACTGAACCCAACTCGAGTTGGCTGTGTTGGTAAGACCTTAAAAA
312262774	49758	NM_025137.3(SPG11):c.5977C>T (p.Gln1993Ter)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44574931	AAATGCCTCCATGGGAAGAACTACTGTCGACAGGTCCTCTGTCTGTATGATCTTGCCAAGG
387907087	40005	NM_017547.3(FOXRED1):c.1054C>T (p.Arg352Trp)	FOXRED1	Dec 15, 2010	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	11	126276476	GTTGCAGACACCAGTGGAGCCTATTTTCGCCGGGAAGGATTAGGTAGCAACTACCTAGGTG
121908431	20609	NM_014112.4(TRPS1):c.1870C>T (p.Arg624Ter)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006;MedGen:CN517202	Trichorhinophalangeal dysplasia type I;not provided	germline	8	115604099	CACTTGTCTCCTGGGGCGGCTGGAAGCTCGCGAGTCAAACATCAGTGCCATCAGTGTTCAT
145961131	259680	NM_000350.2(ABCA4):c.1906C>T (p.Gln636Ter)	ABCA4	Jun 27, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline;unknown	1	94062608	GCGGAGGCTCCAGTTGGAATCTACCTCCAGCAGATGCCCTACCCCTGCTTCGTGGACGATT
387906968	39611	NM_006147.3(IRF6):c.1271C>T (p.Ser424Leu)	IRF6	Sep 01, 2010	MedGen:C0265259,OMIM:119500,SNOMED CT:66783006	Popliteal pterygium syndrome	germline	1	209788553	TTGATAGTGGCAGTGTCCGCCTGCAGATCTCAACCCCAGACATCAAGGATAACATCGTTGC
63750780	96171	NM_000251.2(MSH2):c.1552C>T (p.Gln518Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47466699	GGCAAACAGATTAAACTGGATTCCAGTGCACAGTTTGGATATTACTTTCGTGTAACCTGTA
-1	441849	NM_000296.3(PKD1):c.7126C>T (p.Gln2376Ter)	PKD1	Jan 30, 2017	MedGen:CN517202	not provided	germline	16	2106888	GTGTCCTTGGAGTGTGTGTCCTGCAAGGCACAGGCCGTGTACGAAGTGAGCCGCAGCTCCT
121918177	15937	NM_000181.3(GUSB):c.442C>T (p.Pro148Ser)	GUSB	Apr 01, 1995	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65979866	GACACGCTAGAGCATGAGGGGGGCTACCTCCCCTTCGAGGCCGACATCAGCAACCTGGTCC
387907211	40614	NM_005691.3(ABCC9):c.1433C>T (p.Ala478Val)	ABCC9	Jun 08, 2012	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517	Hypertrichotic osteochondrodysplasia	germline	12	21908099	CAATTCAGTACTTTATTGCTACAAAGTTGGCAGAGGCTCAGAAAAGTACACTTGTAAGTAA
200793464	49757	NM_025137.3(SPG11):c.5974C>T (p.Arg1992Ter)	SPG11	Jun 09, 2016	Gene:255,MedGen:C1865864,OMIM:602099;MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822;MedGen:CN517202	Amyotrophic lateral sclerosis type 5;Spastic paraplegia 11, autosomal recessive;not provided	germline	15	44574934	AGCAAATGCCTCCATGGGAAGAACTACTGTCGACAGGTCCTCTGTCTGTATGATCTTGCCA
886039253	259342	NM_001242896.1(DEPDC5):c.730C>T (p.Gln244Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31792780	TTTCCTGAAATAAACCGAGCCTCAATTCGACAGGATCACAAGGGGAGATTCTATGAAGACT
267608094	51642	NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter)	MSH6	Jul 17, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1833477,OMIM:614350;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided	germline;unknown	2	47806641	AGAGAATTTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATG
199476359	79050	NM_000487.5(ARSA):c.917C>T (p.Thr306Met)	ARSA	Sep 08, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:CN517202	Metachromatic leukodystrophy;not provided	paternal	22	50626216	GCTCCGGTCTCTTGCGGTGTGGAAAGGGAACGACCTACGAGGGCGGTGTCCGAGAGCCTGC
886040894	262134	NM_015247.2(CYLD):c.2569C>T (p.Gln857Ter)	CYLD	Sep 23, 2016	MedGen:C1851526,OMIM:132700	Cylindromatosis, familial	germline	16	50794311	TGGGACTGGAGACACGGCTGCATCCCTTGCCAGAATATGGAGTTATTTGCTGTTCTCTGCA
1064795228	427282	NM_000038.5(APC):c.3454C>T (p.Gln1152Ter)	APC	Nov 28, 2012	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112839048	AATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATT
373278668	96884	NM_018249.5(CDK5RAP2):c.4672C>T (p.Arg1558Ter)	CDK5RAP2	Sep 19, 2013	MedGen:C1858108,OMIM:604804	Primary autosomal recessive microcephaly 3	germline	9	120408401	TCACAGAATGACAAGCTATTGCAGTCTCTCCGAGTGGAGCTGAAGGCGTATGAGAAGCTGG
-1	485844	NM_000044.4(AR):c.2171C>T (p.Pro724Leu)	AR	Dec 08, 2003	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711687	TACACGTGGTCAAGTGGGCCAAGGCCTTGCCTGGTAAGGAAAAGGGAAGTGGGAGCATGAG
45517348	58463	NM_000548.4(TSC2):c.4507C>T (p.Gln1503Ter)	TSC2	Jul 25, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2084964	ATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACG
111033174	52434	NM_000260.3(MYO7A):c.494C>T (p.Thr165Met)	MYO7A	Jan 25, 2017	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:CN517202	Usher syndrome, type 1;not provided	germline	11	77156683	TCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCT
539286945	377868	NM_007254.3(PNKP):c.1315C>T (p.Arg439Ter)	PNKP	May 19, 2015	MedGen:CN517202	not provided	germline	19	49861679	TCCTTCCCCCACAGGTACGTCCAGTGTGCCCGAGCCGCGGGCGTCCCCTGCCGCTGCTTCC
752615209	263761	NM_022162.2(NOD2):c.1045C>T (p.Leu349Phe)	NOD2	Nov 11, 2016	MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:310701003	Behcet's syndrome	germline	16	50710956	ATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTG
63749980	95037	NM_000179.2(MSH6):c.742C>T (p.Arg248Ter)	MSH6	Jun 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	2	47798725	TCTAGGCGAAGTAGCCGCCAAATAAAAAAACGAAGGGTCATATCAGATTCTGAGAGTGACA
111033693	45910	NM_000155.3(GALT):c.442C>T (p.Arg148Trp)	GALT	Oct 27, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN517202	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided	germline	9	34647896	ACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCA
540911439	372493	NM_000372.4(TYR):c.976C>T (p.Gln326Ter)	TYR	May 01, 2015	MedGen:CN517202	not provided	germline	11	89191358	GCTGATGTAGAATTTTGCCTGAGTTTGACCCAATATGAATCTGGTTCCATGGATAAAGCTG
267607061	31156	NM_006516.2(SLC2A1):c.277C>T (p.Arg93Trp)	SLC2A1	Dec 21, 2016	MedGen:C1842534,OMIM:612126,Orphanet:ORPHA98811;MedGen:CN517202	GLUT1 deficiency syndrome 2;not provided	germline	1	42930865	ACTGGCCTGACCTGTGACCCCGTCCCCAGGCGGAATTCAATGCTGATGATGAACCTGCTGG
768126695	445843	NM_003620.3(PPM1D):c.1210C>T (p.Gln404Ter)	PPM1D	Sep 01, 2017	MedGen:CN517202	not provided	germline	17	60656791	AACCTGACTGACAGCCCTTCCTATAATAGTCAAGAAACCTGTGTGATGACTCCTTCCCCAT
137852463	25356	NM_000132.3(F8):c.6518C>T (p.Thr2173Ile)	F8	Jan 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154863139	TTATTGCTCGATACATCCGTTTGCACCCAACTCATTATAGCATTCGCAGCACTCTTCGCAT
121909339	23500	NM_001453.2(FOXC1):c.358C>T (p.Gln120Ter)	FOXC1	Nov 01, 2008	MedGen:C2678503,OMIM:602482	Axenfeld-Rieger syndrome type 3	germline	6	1610803	GACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACC
1057519324	362062	NM_003995.3(NPR2):c.1435C>T (p.Arg479Ter)	NPR2	Mar 01, 2015	MedGen:C1864356,OMIM:602875,Orphanet:ORPHA40	Acromesomelic dysplasia Maroteaux type	inherited	9	35801153	ATGTTTGGTGTTTCCAGCTTCCTAATTTTCCGGTGAGTTCTGGGTTTCTTGCTGACCTACT
1057518352	359770	NM_006772.2(SYNGAP1):c.490C>T (p.Arg164Ter)	SYNGAP1	Jan 06, 2017	MedGen:C2675473,OMIM:612621;MedGen:CN517202	Mental retardation, autosomal dominant 5;not provided	de novo;germline	6	33432787	AGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCGGTACAGGGGCT
5030847	15623	NM_000277.2(PAH):c.754C>T (p.Arg252Trp)	PAH	Aug 07, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;Phenylketonuria;not provided	germline;unknown	12	102852903	CTCCGACCTGTGGCTGGCCTGCTTTCCTCTCGGGATTTCTTGGGTGGCCTGGCCTTCCGAG
121434367	17121	NM_000159.3(GCDH):c.1262C>T (p.Ala421Val)	GCDH	May 08, 2017	Human Phenotype Ontology:HP:0003530,MedGen:C4025603;MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric acidemia;Glutaric aciduria, type 1;not provided	germline;unknown	19	12899486	AATCTTGTCCAGGTACACATGACATTCACGCCCTGATCCTTGGGAGAGCTATCACGGGAAT
876661061	232092	NM_000214.2(JAG1):c.2566C>T (p.Gln856Ter)	JAG1	Aug 18, 2015	MedGen:CN517202	not provided	germline	20	10642494	TGCCCTCCAGGGCACAGTGGTGCCAAGTGCCAGGAAGGTATGTGTGCCAGGCTTCAGCTGC
121909095	22324	NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu)	DNM2	May 07, 2017	MedGen:C1847902,OMIM:606482;MedGen:CN221282;MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Myopathy, centronuclear;Severe X-linked myotubular myopathy	germline	19	10823862	CCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAA
886041013	263159	NM_006087.3(TUBB4A):c.941C>T (p.Ala314Val)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441;MedGen:CN517202	Leukodystrophy, hypomyelinating, 6;not provided	germline	19	6495558	ACCCGCGCCACGGCCGCTACCTGACCGTGGCCGCCGTGTTCCGGGGCCGCATGTCCATGAA
121913162	29715	NM_173842.2(IL1RN):c.160C>T (p.Gln54Ter)	IL1RN	Jun 04, 2009	MedGen:C2748507,OMIM:612852,Orphanet:ORPHA210115;MedGen:CN517202	Osteomyelitis, sterile multifocal, with periostitis and pustulosis;not provided	germline	2	113129619	AACCAGAAGACCTTCTATCTGAGGAACAACCAACTAGTTGCTGGATACTTGCAAGGACCAA
121434625	24468	NM_004380.2(CREBBP):c.1069C>T (p.Gln357Ter)	CREBBP	Jul 27, 1995	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3793533	GATCCTGAAAAACGCAAACTGATACAGCAGCAGCTGGTTCTACTGCTTCATGCTCATAAGT
137852391	25213	NM_000132.3(F8):c.410C>T (p.Thr137Ile)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154993127	CTGCTATAGGAGCTGAATATGATGATCAGACCAGTCAAAGGGAGAAAGAAGATGATAAAGT
374071862	206604	NM_024531.4(SLC52A2):c.383C>T (p.Ser128Leu)	SLC52A2	Mar 17, 2015	MedGen:C3553538,OMIM:614707	Brown-Vialetto-Van Laere syndrome 2	germline	8	144359875	CCTTTGTGCTGGCACTGGCATGCTGTGCCTCGAATGTCACTTTCCTGCCCTTCTTGAGCCA
878855246	241976	NM_177438.2(DICER1):c.2026C>T (p.Arg676Ter)	DICER1	Jun 26, 2017	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	germline;somatic	14	95113106	ACTCTTTATCTGCCAATTAACTCACCTCTTCGAGCCTCCATTGTTGTAAGTTTAGAAGAAG
72653706	21598	NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter)	ABCC6	Apr 26, 2017	Human Phenotype Ontology:HP:0000973,MedGen:C0010495,Orphanet:ORPHA209,SNOMED CT:58588007;MedGen:C3276161,OMIM:614473;Human Phenotype Ontology:HP:0200034,MedGen:C0332563;MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:C1867450,OMIM:177850;MedGen:CN517202	Cutis laxa;Generalized arterial calcification of infancy 2;Papule;Pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;not provided	germline;unknown	16	16163078	TTCCAGGGCAGCACAGTGGTCCGGGCATTCCGAACCCAGGCCCCCTTTGTGGCTCAGAACA
398122904	48135	NM_000359.2(TGM1):c.2278C>T (p.Arg760Ter)	TGM1	Jan 18, 2013	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24249489	GTGACACTGCGCCAGTCGTTTGTGCCTGTGCGACCAGGCCCCCGCCAGCTCATTGCCAGCT
61816761	31358	NM_002016.1(FLG):c.1501C>T (p.Arg501Ter)	FLG	May 31, 2017	na;MedGen:C0079584,OMIM:146700;MedGen:CN517202	Dermatitis, atopic, 2, susceptibility to;Ichthyosis vulgaris;not provided	germline	1	152313385	GGAAGACAAGGATCGCACCACGAGCAGGCACGAGACAGCTCCAGGCATTCAGCGTCCCAAG
879254033	466104	NM_024675.3(PALB2):c.3436C>T (p.Gln1146Ter)	PALB2	Jul 31, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	16	23603584	ACAATTGCCATTTGGGACTTACTTCTCGGTCAGTGTACTGCCCTCCTCCCACCTGTCTCTG
775267348	442159	NM_000435.2(NOTCH3):c.619C>T (p.Arg207Cys)	NOTCH3	Oct 05, 2017	MedGen:CN517202	not provided	germline	19	15192020	CCCGCGGTGCCCTGTGCACCCTCACCATGCCGTAACGGGGGCACCTGCAGGCAGAGTGGCG
878853884	242671	NM_000267.3(NF1):c.3565C>T (p.Gln1189Ter)	NF1	Mar 13, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31233070	TTTATGGAAGTTCTGACAAAAATCCTTCAACAAGGCACAGAATTTGACACACTTGCAGAAA
121912991	31875	NM_004415.3(DSP):c.991C>T (p.Gln331Ter)	DSP	Jan 01, 1999	MedGen:C1852127,OMIM:612908	Keratosis palmoplantaris striata II	germline	6	7566428	GTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAGC
-1	481854	NM_024757.4(EHMT1):c.3649C>T (p.Gln1217Ter)	EHMT1	Dec 07, 2017	MedGen:CN517202	not provided	germline	9	137834457	CTGGTGCCCGTGCGCGTGTTCATGGCCCACCAGGACCTGCGGTTCCCCCGGATCGCCTTCT
768933093	226933	NM_024685.3(BBS10):c.145C>T (p.Arg49Trp)	BBS10	Jan 24, 2017	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C1859568,OMIM:615987;MeSH:D030342,MedGen:C0950123	Bardet-Biedl syndrome;Bardet-Biedl syndrome 10;Inborn genetic diseases	germline;unknown	12	76348214	ACGAAGCCCACTGGCGAGGTGCTTCTCAGCCGGAATGGAGGCCGCCTCCTGGAGGCGCTAC
398124224	101277	NM_001042537.1(SLC9A6):c.1072C>T (p.Gln358Ter)	SLC9A6	Aug 06, 2012	MedGen:CN517202	not provided	germline	X	136012979	GTGACAAAGTTCACCAAATTACGGGAGTTCCAGTTGTTGGAGACAGGCCTGTTCTTCTTGA
397509378	48038	NM_198506.4(LRIT3):c.1318C>T (p.Arg440Ter)	LRIT3	Jan 10, 2013	MedGen:C3554399,OMIM:615058	Congenital stationary night blindness, type 1F	germline	4	109870067	ATCTCAGCAAGTACCACCATGGCCAACAAGCGATCATTCCAGCTCCACCAAGGTGGGAAAA
149119723	196148	NM_000071.2(CBS):c.785C>T (p.Thr262Met)	CBS	Aug 25, 2017	MedGen:C3150344,OMIM:236200;MedGen:CN517202	Homocystinuria due to CBS deficiency;not provided	germline;unknown	21	43063943	TGGCTTCAGTGGGCACGGGCGGCACCATCACGGGCATTGCCAGGAAGCTGAAGGAGAAGTG
773902879	263625	NM_006578.3(GNB5):c.994C>T (p.Arg332Ter)	GNB5	Nov 09, 2016	MedGen:C4310682,OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	germline	15	52124529	TTTGGACATGAAAACCGCGTTAGCACTCTACGAGTTTCCCCCGATGGGACTGCTTTCTGCT
151339003	39312	NM_003506.3(FZD6):c.1531C>T (p.Arg511Cys)	FZD6	Jun 10, 2011	MedGen:C0027339,SNOMED CT:17790008;MedGen:C3279974,OMIM:614157,Orphanet:ORPHA280654	Nail disease;Nail disorder, nonsyndromic congenital, 10	germline;somatic	8	103328406	ACAGAATGGGCTGGGTTTTTTAAACGAAATCGCAAGAGAGAGTAAGAAACTATTGAATTGT
137852207	25821	NM_194277.2(FRMD7):c.601C>T (p.Gln201Ter)	FRMD7	Nov 01, 2006	MedGen:C1839580,OMIM:310700	Infantile nystagmus, X-linked	germline	X	132085625	CCTCACCCCGCCAGTGATGGTGAAGGGATGCAGATTCACCTGGCTGTTGCTCACATGGGAG
-1	485820	NM_000475.4(NR0B1):c.952C>T (p.Gln318Ter)	NR0B1	Jan 06, 2009	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308412	ACTGTGGAAGTCTCGGAGCCCAGCATGCTGCAGAAGATCCTCACCACCAGGCGGCGGGAGA
121909801	22796	NM_001017535.1(VDR):c.88C>T (p.Arg30Ter)	VDR	Feb 01, 1998	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47879026	GTGCCCCGGATCTGTGGGGTGTGTGGAGACCGAGCCACTGGCTTTCACTTCAATGCTATGA
1135401823	424691	NM_015125.4(CIC):c.1057C>T (p.Arg353Ter)	CIC	Aug 21, 2017	MedGen:CN368509,OMIM:617600;MedGen:CN517202	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45;not provided	germline	19	42289013	ACAGTTGGGGGACCTGGCTCAGCCCGGCCCCGAGCTTTCTCCCACAGCGGGGTACACAGCC
548296552	197745	NM_000138.4(FBN1):c.2926C>T (p.Arg976Cys)	FBN1	May 12, 2014	MedGen:CN517202	not provided	germline	15	48490007	GAGTGCACCCTGCCTATTGCTGGCCGCCACCGCATGGACGCCTGCTGCTGCTCCGTCGGGG
104894014	31182	NM_000162.3(GCK):c.1367C>T (p.Ala456Val)	GCK	Apr 01, 2002	MedGen:C1865290,OMIM:602485,Orphanet:ORPHA79299	Hyperinsulinemic hypoglycemia familial 3	germline	7	44145167	GCCGGGGCGCGGCCCTGGTCTCGGCGGTGGCCTGTAAGAAGGCCTGTATGCTGGGCCAGTG
370242930	181525	NM_017831.3(RNF125):c.520C>T (p.Arg174Cys)	RNF125	Mar 11, 2015	MedGen:C4015710,OMIM:616260	Tenorio syndrome	germline	18	32065917	CTTGTTTGTTTCCAGTTCTGTCCACTTTGCCGTTTAATACCCGATGAGAATCCAAGCAGCT
756651509	361250	NM_181332.2(NLGN4X):c.301C>T (p.Arg101Ter)	NLGN4X	May 01, 2016	MedGen:C1845539,OMIM:300495	Autism, susceptibility to, X-linked 2	maternal	X	6151166	CCAGAACCCCCGTCCTCCTGGACTGGCATCCGAAATACTACTCAGTTTGCTGCTGTGTGCC
1057520291	371841	NM_000545.6(HNF1A):c.511C>T (p.Arg171Ter)	HNF1A	Jun 28, 2017	MedGen:CN517202	not provided	germline	12	120989017	GCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCT
879253883	245205	NM_004977.2(KCNC3):c.1283C>T (p.Thr428Ile)	KCNC3	Jul 20, 2016	MedGen:C1854488,OMIM:605259,Orphanet:ORPHA98768	Spinocerebellar ataxia 13	germline	19	50323670	TCGTCCGCATCCTGCGCATCTTCAAGCTGACCCGGCACTTCGTGGGGCTGCGCGTGCTGGG
748749078	247514	NM_003504.4(CDC45):c.333C>T (p.Asn111=)	CDC45	Oct 20, 2016	MedGen:C4310738,OMIM:617063	Meier-gorlin syndrome 7	germline	22	19482818	TAGGCCAGTCAATGTCGTCAATGTATACAACGATACCCAGGTACTTTTTGTGCTATGCCCT
397514914	75819	NM_000548.4(TSC2):c.1864C>T (p.Arg622Trp)	TSC2	Jul 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome	germline	16	2071534	TGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGC
397515734	51418	NM_000038.5(APC):c.694C>T (p.Arg232Ter)	APC	May 08, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112792494	CAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAG
-1	458489	NM_017780.3(CHD7):c.3490C>T (p.Gln1164Ter)	CHD7	Mar 22, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60828774	AGTCGCTTCCCTTCAGAAACCACATTTATGCAAGAATTTGGTGATCTAAAAACAGAAGAGC
104893612	24512	NM_001298.2(CNGA3):c.488C>T (p.Pro163Leu)	CNGA3	Jul 01, 1998	MedGen:C1857618,OMIM:216900	Achromatopsia 2	germline	2	98389696	CGAAAAAGAAGGATGCGATCGTGGTGGACCCGTCCAGCAACCTGTACTACCGCTGGCTGAC
121918570	28198	NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp)	RAG1	May 08, 2008	MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949	Combined cellular and humoral immune defects with granulomas	germline	11	36576227	GAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCT
118192161	28006	NM_000540.2(RYR1):c.487C>T (p.Arg163Cys)	RYR1	Aug 28, 2015	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN031421,OMIM:145600;MedGen:CN517202	Central core disease;Malignant hyperthermia, susceptibility to, 1;not provided	germline;unknown	19	38444211	TCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTG
387906726	38943	NM_002641.3(PIGA):c.1234C>T (p.Arg412Ter)	PIGA	May 06, 2014	MedGen:C3275508,OMIM:300868,Orphanet:ORPHA300496	Multiple congenital anomalies-hypotonia-seizures syndrome 2	germline	X	15321727	TCAGTGGAAGCTGTGTTGCCAATGGACAAACGACTGGACAGACTTATTTCTCACTGCGGCC
5743289	19736	NM_022162.2(NOD2):c.2798+158C>T	NOD2	Jan 31, 2017	MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;na;na	Blau syndrome;INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO;YAO SYNDROME, SUSCEPTIBILITY TO	not provided	16	50722863	AAAGACCATTGGATTTCAAGAGAGGACACTCGAGTCTTTCTGGGTGACTTGGAAATGTCCC
121909191	23025	NM_000474.3(TWIST1):c.563C>T (p.Ser188Leu)	TWIST1	Apr 01, 2007	MedGen:CN029978,OMIM:123100	Craniosynostosis 1	germline	7	19116759	TGGCTCACGAGCGGCTCAGCTACGCCTTCTCGGTCTGGAGGATGGAGGGGGCCTGGTCCAT
121908469	20839	NM_139025.4(ADAMTS13):c.304C>T (p.Arg102Cys)	ADAMTS13	Oct 04, 2001	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133424452	GTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGA
879255683	247646	NM_144997.6(FLCN):c.1579C>T (p.Arg527Ter)	FLCN	Apr 27, 2017	MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001;MedGen:CN517202	Multiple fibrofolliculomas;not provided	germline	17	17213816	GTGCTTTTTAAGTTCACCAAGGTGGACAGTCGACCCAAAGAGGACACACAGAAGCTGCTGA
132630269	26155	NM_000377.2(WAS):c.167C>T (p.Ala56Val)	WAS	Apr 01, 1995	MedGen:C1839163,OMIM:313900,Orphanet:ORPHA852	Thrombocytopenia, X-linked	germline	X	48684317	TGGCCACTGCAGTTGTTCAGCTGTACCTGGCGCTGCCCCCTGGAGCTGAGCACTGGACCAA
863224146	212014	NM_000284.3(PDHA1):c.910C>T (p.Arg304Ter)	PDHA1	Apr 24, 2014	MedGen:CN517202	not provided	germline	X	19358926	CTACTTTTCCCTCCCCATAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGA
398123795	100242	NM_003494.3(DYSF):c.5644C>T (p.Gln1882Ter)	DYSF	Oct 30, 2013	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71669723	ATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTG
796052231	204050	NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys)	DDX3X	Aug 06, 2015	MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260	Mental retardation, X-linked 102	germline	X	41345280	GAACAAGATACTATGCCTCCAAAGGGTGTCCGCCACACTATGATGTTTAGTGCTACTTTTC
876660447	261414	NM_000059.3(BRCA2):c.7495C>T (p.Gln2499Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32356487	GATATACAGGATATGCGAATTAAGAAGAAACAAAGGCAACGCGTCTTTCCACAGCCAGGCA
121434386	17498	NM_174934.3(SCN4B):c.535C>T (p.Leu179Phe)	SCN4B	Jul 10, 2007	MedGen:C2678484,OMIM:611819	Long QT syndrome 10	germline	11	118141265	GTCGTGGGCGGGGTCATCGGGCTCCTCATCCTCATCCTGCTGATCAAGAAACTCATCATCT
-1	475422	NM_004329.2(BMPR1A):c.1360C>T (p.Gln454Ter)	BMPR1A	Jan 29, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	86923393	CATTCCCTTATAGGGATCGTGGAAGAATACCAATTGCCATATTACAACATGGTACCGAGTG
772135867	204602	NM_004700.3(KCNQ4):c.2039C>T (p.Ser680Phe)	KCNQ4	Aug 20, 2015	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	germline	1	40838474	GCCCTGTGGACCACGAGGACATCTCCGTCTCCGCACAGACGCTCAGCATCTCCCGCTCGGT
1057518751	359148	NM_153461.3(IL17RC):c.412C>T (p.Gln138Ter)	IL17RC	Jul 06, 2015	MedGen:C4225324,OMIM:616445	Candidiasis, familial, 9	germline	3	9917994	CCGGGCCCCGTGCTGGCGCCTACGCACCTGCAGACAGAGCTGGTGCTGAGGTGCCAGAAGG
587784241	169390	NM_000430.3(PAFAH1B1):c.1111C>T (p.Arg371Ter)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2680272	ACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAAC
587776906	40295	NM_001163809.1(WDR81):c.2567C>T (p.Pro856Leu)	WDR81	Dec 01, 2011	Gene:780925,MedGen:C2750234,OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	germline	17	1727526	TTGAGTACAGGCCTGTCTCCCAGGGCCTGCCCCCACCCTGCCCAAGCCAGCTTCTCAGCCC
886039518	260278	NM_000276.3(OCRL):c.1576C>T (p.Pro526Ser)	OCRL	Mar 17, 2016	MedGen:CN517202	not provided	germline	X	129569373	CACATGGAACTGAAAACCAGCGACCACAAGCCTGTTAGCGCCCTCTTCCATATTGGGGTAA
377735262	100178	NM_003494.3(DYSF):c.1663C>T (p.Arg555Trp)	DYSF	Mar 28, 2017	MedGen:CN239317;MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:CN517202	DYSF-Related Disorders;Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;not provided	germline	2	71551631	TGGCAGGGGGAAGGTGTGGCTTATCGTGGCCGGCTTCTGCTCTCCCTGGAGACCAAGCTGG
-1	471455	NM_000475.4(NR0B1):c.901C>T (p.Gln301Ter)	NR0B1	Jul 31, 2017	MedGen:C1848296,OMIM:300018;MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	46,XY sex reversal, type 2;Congenital adrenal hypoplasia, X-linked	germline	X	30308463	TGGGCGTCCCTGCTCATGCTTGAGCTGGCCCAGGACCGCTTGCAGTTCGAGACTGTGGAAG
587784242	169391	NM_000430.3(PAFAH1B1):c.1135C>T (p.His379Tyr)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2680296	AACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGT
121909398	17403	NM_201548.4(CERKL):c.769C>T (p.Arg257Ter)	CERKL	Jun 14, 2016	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:CN239466;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C1842127,OMIM:608380;MedGen:C1842127,OMIM:608380	Retinal dystrophy;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa;Retinitis pigmentosa 26;Retinitis pigmentosa 26	germline;unknown	2	181558617	GCTCAGAAGAATGCTGGGATGGAAACAGACCGAATCCTGACTCCTGTCAGAGCACAGCTTC
1064794808	410512	NM_001127221.1(CACNA1A):c.4058C>T (p.Pro1353Leu)	CACNA1A	Mar 22, 2017	MedGen:CN517202	not provided	germline	19	13262768	AATCCCTCCGAGTCCTCCGGGTGCTACGACCTCTTAAAACCATCAAGCGGCTGCCAAAGCT
267608678	40104	NM_007055.3(POLR3A):c.418C>T (p.Arg140Ter)	POLR3A	Aug 02, 2012	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	germline	10	78025043	AAGAGGCCCGGCCTGACCTACCTTCAGAAGCGAGGACTGAAAAAGAAAATCTCTGACAAGT
1131691845	421955	NM_001164144.2(CHAMP1):c.403C>T (p.Gln135Ter)	CHAMP1	May 19, 2017	MedGen:CN517202	not provided	germline	13	114324245	AAATCCATACCTGCCCTTTCAATGGAAACACAGAAACTTGGTTCAGTTTTGTCTCCAGAAT
397508343	68110	NM_000492.3(CFTR):c.2143C>T (p.Gln715Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117592310	ATCAACTCTATACGAAAATTTTCCATTGTGCAAAAGACTCCCTTACAAATGAATGGCATCG
104894681	19259	NM_024301.4(FKRP):c.1343C>T (p.Pro448Leu)	FKRP	Aug 24, 2016	MedGen:C1847759,OMIM:606612;MedGen:CN068805	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5	germline	19	46756793	ATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGT
121918103	28400	NM_001042465.2(PSAP):c.650C>T (p.Thr217Ile)	PSAP	Apr 01, 1990	MedGen:C0268262,OMIM:249900,SNOMED CT:68390005	Sphingolipid activator protein 1 deficiency	germline	10	71828084	ACATCCAGACTGCTGTACGGACCAACTCCACCTTTGTCCAGGCCTTGGTGGAACATGTCAA
876659480	233486	NM_000535.6(PMS2):c.2155C>T (p.Gln719Ter)	PMS2	Sep 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	7	5982843	TTCGAGATGCTGCAGCAGCACACCGTGCTCCAGGGGCAGAGGCTCATAGCGTGAGTGTGTT
-1	481276	NM_001288653.1(CLTC):c.4675C>T (p.Gln1559Ter)	CLTC	Feb 02, 2018	MedGen:CN787270,OMIM:617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	germline	17	59685644	AAAGATACTGAATTGGCTGAAGAACTCCTGCAGTGGTTTTTGCAGGAAGAAAAAAGAGAGT
63750987	426880	NM_001171.5(ABCC6):c.3362C>T (p.Ser1121Leu)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163137	AGCTGAGACGCTTGGAGTCAGCCAGCTACTCGTCTGTCTGCTCCCACATGGCTGAGACGTT
121909210	22907	NM_000358.2(TGFBI):c.370C>T (p.Arg124Cys)	TGFBI	Apr 01, 1998	MedGen:C1690006,OMIM:122200,SNOMED CT:419197009	Lattice corneal dystrophy Type I	germline	5	136046406	GGATCCACCACCACTCAGCTGTACACGGACCGCACGGAGAAGCTGAGGCCTGAGATGGAGG
61755907	439331	NM_001017995.2(SH3PXD2B):c.250C>T (p.Arg84Ter)	SH3PXD2B	Jun 19, 2017	MedGen:CN517202	not provided	germline	5	172394622	TCATCTTCTGCAGGTAAGATTCTCTTCAGACGAAGCCACATCCGGGACGTGGCTGTCAAAC
796053253	201147	NM_006516.2(SLC2A1):c.971C>T (p.Ser324Leu)	SLC2A1	Mar 04, 2017	MedGen:C3149117;MedGen:CN517202	GLUT1 deficiency syndrome 1, autosomal recessive;not provided	germline	1	42929211	GTATCGTCAACACGGCCTTCACTGTCGTGTCGGTGAGTCTTTGCTTACTGGCCCCCCCAGC
763293192	191277	NM_022132.4(MCCC2):c.1081C>T (p.Arg361Ter)	MCCC2	Feb 09, 2015	MedGen:C1859499,OMIM:210210	3-methylcrotonyl CoA carboxylase 2 deficiency	germline	5	71643827	CTTCTTTGAACTTTCTTTTGAGGATTTGCTCGAATATTTGGGTACCCAGTAGGTATCGTTG
121908173	19629	NM_030777.3(SLC2A10):c.394C>T (p.Arg132Trp)	SLC2A10	Sep 10, 2014	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342	Arterial tortuosity syndrome	germline	20	46725430	TACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAG
387907070	39915	NM_001040613.2(TMEM70):c.238C>T (p.Arg80Ter)	TMEM70	Mar 01, 2011	MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	germline	8	73978783	TAGATCCCTGTTTATTGGGAAGGATATGTTCGATTCTTAAATACGCCATCTGACAAATCAG
128627256	26327	NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter)	DMD	May 18, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;Duchenne muscular dystrophy	germline;unknown	X	31478330	GAGAGAGCCCAGAATGTCACTCGGCTTCTACGAAAGCAGGCTGAGGAGGTCAATACTGAGT
5030820	17257	NM_000551.3(VHL):c.499C>T (p.Arg167Trp)	VHL	Nov 01, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Pheochromocytoma;Renal cell carcinoma, papillary, 1;Von Hippel-Lindau syndrome;not provided	germline;somatic	3	10149822	ACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGA
104893985	17491	NM_000434.3(NEU1):c.239C>T (p.Pro80Leu)	NEU1	Jan 01, 2002	MedGen:C0268226,OMIM:256550	Sialidosis, type II	germline	6	31862112	AGATCGGCTCAGTGGACACCTTCCGCATCCCGCTCATCACAGCCACTCCGCGGGGCACTCT
181011657	440200	NM_001080463.1(DYNC2H1):c.10594C>T (p.Arg3532Ter)	DYNC2H1	Jan 03, 2018	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:CN674505;MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Jeune thoracic dystrophy;Short-rib polydactyly syndrome type III;Short-rib thoracic dysplasia 3 with or without polydactyly	germline;maternal;paternal;unknown	11	103257719	ATGTACCGTTTTAGTTTGGCTGCTTTTCTCCGACTTTTCCAACGAGCTCTACAAAACAAAC
886041722	264872	NM_015339.4(ADNP):c.790C>T (p.Arg264Ter)	ADNP	Apr 27, 2016	MedGen:CN517202	not provided	germline	20	50893924	ATGATTGGGCACACAAATGTAGTGGTTCCCCGATCCAAACCCTTGATGCTAATTGCTCCCA
121434225	18452	NM_006147.3(IRF6):c.1177C>T (p.Gln393Ter)	IRF6	Oct 01, 2002	MedGen:C0265259,OMIM:119500,SNOMED CT:66783006	Popliteal pterygium syndrome	germline	1	209789669	AAACCATTGGAAAGGAAACTCATCTTGGTTCAGGTGAGAAGATAAGGCTGTGTCAACAACT
387907144	40173	NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter)	ARID1B	Mar 16, 2017	MedGen:CN029606,OMIM:135900;MedGen:CN517202	Coffin-Siris syndrome 1;not provided	germline	6	157181056	AATGAGCCAGAGAGAAAGCTCTGGGTCGACCGATACCTCACCTTCATGGAAGAGAGAGGCT
397507819	66651	NM_000059.3(BRCA2):c.5992C>T (p.Gln1998Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32340347	GTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCA
587780062	133253	NM_000535.6(PMS2):c.823C>T (p.Gln275Ter)	PMS2	Aug 01, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	germline	7	5995614	ATGTTGAATAGCATCTCAGGTTTCATTTCACAATGCACGCATGGAGTTGGAAGGAGTTCAA
765799472	216025	NM_172250.2(MMAA):c.64C>T (p.Arg22Ter)	MMAA	Jun 21, 2017	Human Phenotype Ontology:HP:0002912,MedGen:C0268583,SNOMED CT:42393006;MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310;MedGen:CN517202	Methylmalonic acidemia;Methylmalonic aciduria cblA type;not provided	germline	4	145639203	TTCCTAAAAGGCCTTTTAAGAGCACCTTTCCGATGTTACCACTTCATCTTTCACTCAAGTA
1085307128	413915	NM_031296.2(RAB33B):c.211C>T (p.Arg71Ter)	RAB33B	May 10, 2017	MedGen:C3714896,OMIM:615222	Smith-McCort dysplasia 2	germline	4	139454406	CGCACCGAGGCCACGATAGGGGTGGATTTCCGAGAACGAGCGGTGGAGATTGATGGGGAGC
61750654	105349	NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4	May 26, 2015	Human Phenotype Ontology:HP:0000618,MedGen:C0456909;Human Phenotype Ontology:HP:0000608,MedGen:C0024437;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MeSH:C535804,MedGen:C1855465,OMIM:248200;Human Phenotype Ontology:HP:0000572,MedGen:C3665386;MedGen:CN517202	Blindness;Macular degeneration;Retinal dystrophy;Stargardt disease 1;Visual loss;not provided	germline;unknown	1	94000870	CGGCTGGCCATCATGGTAAAGGGCGCCTTTCGATGTATGGGCACCATTCAGCATCTCAAGT
587784260	169333	NM_000430.3(PAFAH1B1):c.33-3C>T	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2665369	TTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGT
121907953	18936	NM_000520.5(HEXA):c.532C>T (p.Arg178Cys)	HEXA	Aug 23, 2012	na;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:C1848916	HEXA, Czechoslovakian allele;Tay-Sachs disease;Tay-Sachs disease, B1 variant	germline	15	72353106	CCTCACCGGGGCTTGCTGTTGGATACATCTCGCCATTACCTGCCACTCTCTAGCATCCTGG
104894285	28187	NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys)	RAG1	Dec 07, 2016	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006;MedGen:C1867362;MedGen:C1832322,OMIM:601457,Orphanet:ORPHA331206	Histiocytic medullary reticulosis;Severe combined immunodeficiency, B cell-negative;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive	germline	11	36574985	TACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGA
1060501739	402232	NM_032043.2(BRIP1):c.1495C>T (p.Gln499Ter)	BRIP1	Oct 17, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C1836860,OMIM:609054	Familial cancer of breast;Fanconi anemia, complementation group J	germline	17	61784403	TTCTTATAGGGACATTTTTCTGCTGTTCTTCAAAAAGAGGAAAAAATCTCACCAATTTATG
387906273	17167	NM_005787.5(ALG3):c.165C>T (p.Gly55=)	ALG3	Aug 01, 2005	MedGen:C1832736,OMIM:601110,Orphanet:ORPHA79321	Congenital disorder of glycosylation type 1D	germline	3	184248776	GGCCGCCTGCCTCTGCCTGGCGGAGGTGGGCATCACCTTCTGGGTCATTCACAGGGTGGCA
5030826	180112	NM_000551.3(VHL):c.194C>T (p.Ser65Leu)	VHL	Apr 24, 2015	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10142041	AGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCAT
886039559	260333	NM_005183.3(CACNA1F):c.1873C>T (p.Arg625Ter)	CACNA1F	Apr 13, 2016	MedGen:CN517202	not provided	germline	X	49224798	GCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGG
78001248	136549	NM_001615.3(ACTG2):c.532C>T (p.Arg178Cys)	ACTG2	Apr 26, 2016	MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241;MedGen:CN517202	Visceral myopathy;not provided	de novo;germline	2	73913565	GAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGG
869312934	226867	NM_002857.3(PEX19):c.775C>T (p.Gln259Ter)	PEX19	Sep 20, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	1	160279842	TCATGTTCCATTTTCCTTATTTTCTAGCTACAAGATTTAGGCCATCCTCCAAAAGAGCTGG
886043963	272877	NM_033071.3(SYNE1):c.11908C>T (p.Arg3970Ter)	SYNE1	Jun 09, 2016	MedGen:C2751807,OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	germline	6	152344185	TTGGAACACGAACTTCAGAAGCACGTCAGCCGACAAGACACCCTGCAGCAGTGCCAGGCCT
398124434	102138	NM_052845.3(MMAB):c.568C>T (p.Arg190Cys)	MMAB	Jan 07, 2016	MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311	Methylmalonic aciduria cblB type	germline	12	109561056	TCGGCGCTGCATTTCTGCCGGGCCGTGTGCCGCCGGGCCGAGAGACGGTAAGAGGGCTGGA
1064796996	407645	NM_024757.4(EHMT1):c.3127C>T (p.Gln1043Ter)	EHMT1	Mar 24, 2017	MedGen:CN517202	not provided	germline	9	137813477	CCATGCCCCAGCAACTACAAGTACGTCTCTCAGAACTGCGTGACGTCCCCCATGAACATCG
104894077	19232	NM_018972.2(GDAP1):c.487C>T (p.Gln163Ter)	GDAP1	Jul 25, 2017	MedGen:C1843183,OMIM:607706;MedGen:C1859198,OMIM:214400,Orphanet:ORPHA99948;MedGen:C4016973;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease, type 4A;Neuropathy, axonal, with vocal cord paresis, autosomal recessive;not provided	germline	8	74361886	TCTGTTTCCAAAATGTTTTTATTATCAGGCCAAATTGGAAACACAGAGTCTGAGCTGAAGA
121908368	20196	NM_020632.2(ATP6V0A4):c.1571C>T (p.Pro524Leu)	ATP6V0A4	Sep 01, 2000	MedGen:C1864498,OMIM:602722,Orphanet:ORPHA402041	Renal tubular acidosis, distal, autosomal recessive	germline	7	138739541	TTGGAAATCCATACCCGTTTGGGATTGATCCGGTAATAATGTCTTCTTGGGTTAAATATTT
964532159	431273	NM_012160.4(FBXL4):c.616C>T (p.Arg206Ter)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98917616	AAGCAGATAAATTTCCCCACAAATCTTATACGACTGGAAGTAAATAGTTCTCTTCTGGAAT
373463881	443699	NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter)	SPINK5	Sep 11, 2017	MedGen:CN517202	not provided	germline	5	148099271	GAAAATGAAGAAAAGAAAAAGGCTGAAGCACGAGCTAGAAACAAAAGAGAATCTGGAAAAG
587784147	168220	NM_022455.4(NSD1):c.5425C>T (p.Gln1809Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177269723	TTTGGATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTG
72667036	414024	NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter)	COL1A1	Feb 03, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline;maternal	17	50197770	TTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATG
587776940	48502	NM_020964.2(EPG5):c.3481C>T (p.Arg1161Ter)	EPG5	Feb 14, 2013	MedGen:C1855772,OMIM:242840,Orphanet:ORPHA1493	Absent corpus callosum cataract immunodeficiency	germline	18	45916110	CAGGCTCTCATAAGCCAGCATCTCTGGTACCGAGAACAACCTATCCTCTTCCTCATGGACC
886037935	248784	NM_004434.2(EML1):c.412C>T (p.Arg138Ter)	EML1	Sep 19, 2016	MedGen:C1838239,OMIM:600348	Band heterotopia	germline	14	99878513	AGTAACATCAAGAGGACCAGCTCTTCTGAACGAGTGTCTCCTGGGGGTCGAAGGGAAAGCA
113432057	264327	NM_203447.3(DOCK8):c.949C>T (p.Arg317Ter)	DOCK8	Aug 30, 2016	MedGen:CN517202	not provided	germline	9	328076	CTGAACTCTGACCAGTTCAAAGGATTTCTGCGAGCTCACACGCCTTCAGTGGCCGCATCAA
121908575	21207	NM_004328.4(BCS1L):c.133C>T (p.Arg45Cys)	BCS1L	Jun 01, 2009	MedGen:C1852372,OMIM:124000	Mitochondrial complex III deficiency	germline	2	218661120	GGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTG
267606793	15078	NM_001201543.1(FAM161A):c.1786C>T (p.Arg596Ter)	FAM161A	Sep 10, 2010	MedGen:C1853734,OMIM:606068	Retinitis pigmentosa 28	germline	2	61836075	AGCGAAAAGGAAAGGATGAGAGAATACCAACGAGAACTAGAAGAAAGAGAAGAAAAATTAA
774363396	481459	NM_148897.2(SDR9C7):c.658C>T (p.Arg220Ter)	SDR9C7	Dec 11, 2017	MedGen:CN321864,OMIM:617574	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13	germline	12	56929456	CTCGGCAAGGAGAACCTGGAGTCACGCATGCGAAAGCTTTGGGAGAGGCTGCCTCAGGAGA
587783429	168594	NM_017780.3(CHD7):c.1480C>T (p.Arg494Ter)	CHD7	Feb 14, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202;MedGen:CN169374	CHARGE association;not provided;not specified	germline	8	60742912	GGCCTTGGAGACCCACAAGCAATCCAGGAACGACTGATACCTGGCCAACAACATCCTGGTC
202199411	264659	NM_014363.5(SACS):c.9508C>T (p.Arg3170Ter)	SACS	Aug 03, 2017	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN517202	Spastic ataxia Charlevoix-Saguenay type;not provided	germline;unknown	13	23334368	GACAGTGTTTTGCAAACTTTTGATGCAAAACGACCCAAGTTTCTAACAACATATCATGAAT
587777136	106535	NM_025233.6(COASY):c.175C>T (p.Gln59Ter)	COASY	Feb 17, 2014	MedGen:C3810230,OMIM:615643,Orphanet:ORPHA397725	Neurodegeneration with brain iron accumulation 6	germline	17	42562797	GGCCCGGCTCAGCCCCAGTCCAGCCCCGTGCAGGCCACGTTTGAGGTTCTTGATTTCATCA
199473433	78320	NM_000238.3(KCNH2):c.2680C>T (p.Arg894Cys)	KCNH2	Jun 12, 2013	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150948456	CAACGCAAGCGCAAGTTGTCCTTCCGCAGGCGCACGGACAAGGGTGAGGCGGGGGAGGGGA
397514644	48662	NM_001014431.1(AKT1):c.73C>T (p.Arg25Cys)	AKT1	Mar 01, 2013	MedGen:C3554519,OMIM:615109	Cowden syndrome 6	germline	14	104780190	GTAGGGGAGTACATCAAGACCTGGCGGCCACGCTACTTCCTCCTCAAGAATGATGGCACCT
118204041	15542	NM_001010892.2(RSPH4A):c.460C>T (p.Gln154Ter)	RSPH4A	Jan 30, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C2675229,OMIM:612649	Ciliary dyskinesia;Ciliary dyskinesia, primary, 11	germline	6	116617083	CAGTCAGAAGGAAACACCTTTCAACAGTCTCAGCAACCCAAACCCCACCTGTGTGGACGAA
864622592	221422	NM_004656.3(BAP1):c.778C>T (p.Gln260Ter)	BAP1	Oct 15, 2015	MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539	Tumor susceptibility linked to germline BAP1 mutations	germline	3	52406258	GTGAACCGTCAGACAGTACTAGAGGCTCTGCAGCAGGTAGGTGCCCTTTCTTCCTGGCCTC
797044586	188168	NM_002055.4(GFAP):c.1073C>T (p.Ala358Val)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44911290	AGTACCAGGACCTGCTCAATGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAA
281874657	47359	NM_000495.4(COL4A5):c.1135C>T (p.Gln379Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108586717	GAAAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAG
72558429	103185	NM_000531.5(OTC):c.698C>T (p.Ala233Val)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408776	ATGAGCCGGATGCTAGTGTAACCAAGTTGGCAGAGCAGTATGCCAAAGAGGTATGCTCTTT
-1	464801	NM_025137.3(SPG11):c.2737C>T (p.Gln913Ter)	SPG11	Apr 17, 2017	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	germline	15	44620287	TTTCAAACCCAGCATAGTTATGCTTCACTTCAGCAGAACAAATGGCCCCTTCTGACTGTTG
137852223	25606	NM_000133.3(F9):c.169C>T (p.Gln57Ter)	F9	Jul 26, 1986	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139537090	TATAATTCAGGTAAATTGGAAGAGTTTGTTCAAGGGAACCTTGAGAGAGAATGTATGGAAG
750331613	418553	NM_001510.3(GRID2):c.2128C>T (p.Arg710Trp)	GRID2	Feb 21, 2017	MedGen:C4015505,OMIM:616204,Orphanet:ORPHA363432	Spinocerebellar ataxia, autosomal recessive 18	inherited;not applicable	4	93515346	GAGAGGGACAGCATGTATTCCCAAATGTGGCGGATGATCAACCGAAGCAATGGATCGGAGA
80358999	67064	NM_000059.3(BRCA2):c.7738C>T (p.Gln2580Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32357862	AAGGAAAGTTTATGGACTGGAAAAGGAATACAGTTGGCTGATGGTGGATGGCTCATACCCT
761848111	264823	NM_013275.5(ANKRD11):c.3562C>T (p.Arg1188Ter)	ANKRD11	Nov 08, 2017	MedGen:C0220687,OMIM:148050,Orphanet:ORPHA2332;MedGen:CN517202	KBG syndrome;not provided	de novo;germline	16	89282980	GACAAGGAGCCCAGAGACAGGAGAAAGGACCGAGGGGCTGCCGACGCGGGGAGAGACAAAA
121912861	32446	NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter)	COL4A4	Nov 01, 1998	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919	Alport syndrome, autosomal recessive	germline	2	227022135	GGGCCACCTGCAGATGTGGATGACTGTCCCCGAATCCCAGGCCTTCCTGGGGCGCCAGGCA
121964972	15170	NM_000071.2(CBS):c.1058C>T (p.Thr353Met)	CBS	Jul 18, 2017	MedGen:C3150344,OMIM:236200;MedGen:CN068393;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-nonresponsive;Thoracic aortic aneurysm and aortic dissection;not provided	germline;unknown	21	43060528	CCCTCTCTGCAGGTGGCAGTGCTGGCAGCACGGTGGCGGTGGCCGTGAAGGCCGCGCAGGA
139956283	175960	NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter)	STRC	Oct 17, 2013	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	15	43600011	CAAATGGCCTTTCTGAGTCCTGAGCAGCGACGAGCAGTTGCATGGGCCCAACATGAGGGAA
104894470	17087	NM_152443.2(RDH12):c.565C>T (p.Gln189Ter)	RDH12	Aug 01, 2004	MedGen:C2675186,OMIM:612712	Leber congenital amaurosis 13	germline	14	67727097	CACATTGGCAAGATTCCCTTCCACGACCTCCAGAGCGAGAAGCGCTACAGCAGGGGTTTTG
397509267	70207	NM_007294.3(BRCA1):c.5335C>T (p.Gln1779Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43049192	TGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTG
137852949	19153	NM_138694.3(PKHD1):c.1486C>T (p.Arg496Ter)	PKHD1	Aug 25, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	52058349	TACCTACGGGAGAAGCACCAGATCCGAGTCCGAGCCCAGAGGCTTCCAGAAGTACAGGTCT
121913482	31371	NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3	Sep 11, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;Human Phenotype Ontology:HP:0001591,MedGen:C1865186;Human Phenotype Ontology:HP:0003865,MedGen:C1859460;Human Phenotype Ontology:HP:0030731,MeSH:D002277,MedGen:C0007097;Human Phenotype Ontology:HP:0008873,MedGen:C1849937;Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003;Human Phenotype Ontology:HP:0002980,MedGen:C1859461;Human Phenotype Ontology:HP:0001510,MedGen:C3552463;MedGen:C0022603,OMIM:182000;Human Phenotype Ontology:HP:0008909,MedGen:C2674171;Human Phenotype Ontology:HP:0009816,MedGen:C0345371;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;Human Phenotype Ontology:HP:0000774,MedGen:C0426790;Human Phenotype Ontology:HP:0000773,MedGen:C0426817;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:C1851152;Human Phenotype Ontology:HP:0001518,MedGen:C0021288;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MedGen:C1868678,OMIM:187600,Orphanet:ORPHA1860;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;Human Phenotype Ontology:HP:0009824,MedGen:C1837406;MedGen:CN517202;MedGen:CN169374	Adenocarcinoma of lung;Bell-shaped thorax;Bowed humerus;Carcinoma;Disproportionate short-limb short stature;Epidermal nevus;Femoral bowing;Growth delay;Keratosis, seborrheic;Lethal short-limbed short stature;Lower limb undergrowth;Multiple myeloma;Narrow chest;Short ribs;Short stature;Skeletal dysplasia;Skeletal dysplasia with acanthosis nigricans;Small for gestational age;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Thanatophoric dysplasia type 1;Transitional cell carcinoma of the bladder;Upper limb undergrowth;not provided;not specified	de novo;germline;somatic;unknown	4	1801837	GGCCCCTGAGCGTCATCTGCCCCCACAGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGG
869025609	224872	NM_177987.2(TUBB8):c.527C>T (p.Ser176Leu)	TUBB8	Mar 02, 2017	MedGen:C4225210,OMIM:616780	Oocyte maturation defect 2	germline	10	47865	CATTCAGCATCCTGCCCTCGCCCAAGGTGTCGGACACCGTGGTGGAGCCCTACAACGCCAC
794726826	187834	NM_001165963.1(SCN1A):c.1259C>T (p.Ala420Val)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166046888	GCTCATTCTACCTAATAAATTTGATCCTGGCTGTGGTGGCCATGGCCTACGAGGAACAGAA
80357350	69232	NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43104928	AGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCATTT
886043499	271087	NM_003829.4(MPDZ):c.5302C>T (p.Gln1768Ter)	MPDZ	Mar 16, 2016	MedGen:C3554691,OMIM:615219	Hydrocephalus, nonsyndromic, autosomal recessive 2	germline	9	13119579	GGAATTGCAGATGCCGATGGAAGACTGATGCAGGGAGACCAGATATTAATGGTGAATGGGG
78218009	19219	NM_033629.4(TREX1):c.490C>T (p.Arg164Ter)	TREX1	Dec 21, 2015	MedGen:C0796126,OMIM:225750;MedGen:CN517202	Aicardi Goutieres syndrome 1;not provided	germline	3	48467145	GATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCAAGCAGCCCCTCAGAACACGGCCCAA
730880125	178530	NM_002292.3(LAMB2):c.2890C>T (p.Arg964Ter)	LAMB2	Jun 16, 2014	MedGen:C1836876,OMIM:609049,Orphanet:ORPHA2670	Pierson syndrome	germline	3	49124920	ACAGCTTCCTCTTAACCGTGGGCAGGGCTGCGATGTGAAGCTTGTGCCCCTGGGCACTTTG
11891778	259726	NM_173076.2(ABCA12):c.859C>T (p.Arg287Ter)	ABCA12	Jul 26, 2016	MedGen:C0239849,OMIM:242500;MedGen:CN517202	Autosomal recessive congenital ichthyosis 4B;not provided	germline	2	215045850	ACATCACTAAGCAATCTATTTGATGTTCTTCGAAAGGCAAACAGGTAAGAAAATGTAAGAA
879253866	244159	NM_015046.5(SETX):c.6322C>T (p.Gln2108Ter)	SETX	Aug 18, 2015	MedGen:C1853761,OMIM:606002	Spinocerebellar ataxia autosomal recessive 1	inherited	9	132288238	CGAGCTCTATGCCGAGGTGGACGGGAAATACAGGTATCTTTGCATTTCTTGAATAATAACT
28935477	26446	NM_014009.3(FOXP3):c.1189C>T (p.Arg397Trp)	FOXP3	Apr 01, 2001	MedGen:C0342288,OMIM:304790,Orphanet:ORPHA37042,SNOMED CT:237618001	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	germline	X	49251441	CACAACCTGAGTCTGCACAAGTGCTTTGTGCGGGTGGAGAGCGAGAAGGGGGCTGTGTGGA
80338761	20902	NM_006640.4(SEPT9):c.262C>T (p.Arg88Trp)	SEPT9	Oct 13, 2013	MedGen:C1834304,OMIM:162100,Orphanet:ORPHA2901;MedGen:CN517202	Amyotrophy, hereditary neuralgic;not provided	germline	17	77402298	TCGGGCCCCAAGGCGGCCGAGCCGGTGTCCCGGCGCACTGAGCTGTCCATTGACATCTCGT
121912970	32034	NM_000165.4(GJA1):c.97C>T (p.Arg33Ter)	GJA1	Jul 01, 2006	MedGen:C2749477,OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	germline	6	121446944	AAGGTGTGGCTGTCAGTACTTTTCATTTTCCGAATCCTGCTGCTGGGGACAGCGGTTGAGT
118204101	16495	NM_000190.3(HMBS):c.499C>T (p.Arg167Trp)	HMBS	Jul 14, 2016	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006;MedGen:CN517202	Acute intermittent porphyria;not provided	germline	11	119091413	GACACTGTGGTCCTTAGCAACTCTCCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGC
121918355	22593	NM_000428.2(LTBP2):c.895C>T (p.Arg299Ter)	LTBP2	Mar 01, 2011	MedGen:C2751316,OMIM:613086;MedGen:C1562061,OMIM:251750,SNOMED CT:416671000	Glaucoma 3, primary congenital, d;Microspherophakia	germline	14	74555629	CAGCAGCACGTGGGGTTGTCCCGCACTGTCCGACTTCACCCGACTGCCACGGCCAGTAGCC
80344795	266610	NM_001271208.1(NEB):c.6385C>T (p.Gln2129Ter)	NEB	Aug 30, 2015	MedGen:C1850569,OMIM:256030	Nemaline myopathy 2	germline	2	151656263	ATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCACCAACACTAACTACAAGC
200296680	167509	NM_001556.2(IKBKB):c.814C>T (p.Arg272Ter)	IKBKB	Nov 20, 2014	MedGen:C3810043,OMIM:615592,Orphanet:ORPHA397787	Immunodeficiency 15	germline	8	42316223	TATGCTCCTCTCCACAGTGTCCTGGCTGAGCGACTGGAGAAGTGGCTGCAACTGATGCTGA
745386663	359418	NM_000404.3(GLB1):c.841C>T (p.His281Tyr)	GLB1	Nov 02, 2016	MedGen:CN517202	not provided	germline	3	33051956	ACTGGCTGGCTAGATCACTGGGGCCAACCTCACTCCACAATCAAGACCGAAGCAGTGGCTT
794729143	198195	NM_001134363.2(RBM20):c.1156C>T (p.Gln386Ter)	RBM20	Feb 12, 2013	MedGen:CN517202	not provided	germline	10	110781765	ATCGGTGCTGGGCGGAGGGCCAAGGAGGACCAGGCGTTGCTATCTGTGCGGCCCCTGCAGG
138818907	36428	NM_000060.4(BTD):c.1489C>T (p.Pro497Ser)	BTD	Jun 14, 2017	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline	3	15645345	TGGGGCAACTTCAGTACTTCCTATATCTTTCCTTTGTTTCTGACCTCAGGGATGACCCTAG
886041227	264878	NM_000444.5(PHEX):c.2239C>T (p.Arg747Ter)	PHEX	Mar 06, 2017	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	de novo;germline	X	22247942	TCCACGATGAACAGAGGCATGGACTCCTGCCGACTCTGGTAGCTGGGACGCTGGTTTATGG
886039527	259902	NM_017780.3(CHD7):c.1714C>T (p.Gln572Ter)	CHD7	Aug 09, 2016	MedGen:CN517202	not provided	germline	8	60781048	TTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGTGGACCGAATGCTCAGCTAGTGA
786205868	190053	NM_145068.3(TRPV3):c.2017C>T (p.Leu673Phe)	TRPV3	Mar 01, 2014	MedGen:C2609071,OMIM:614594,Orphanet:ORPHA659	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques	germline	17	3518644	ATCCTCACCTTTGTTCTCCTCCTCAACATGCTCATTGCTCTGATGGGCGAGACTGTGGAGA
63749917	96449	NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter)	MSH2	Jun 02, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47478507	ACCACTGAAGAGACCTTAACTATGCTTTATCAGGTGAAGAAAGGTATGTACTATTGGAGTA
886041390	264787	NM_004960.3(FUS):c.1574C>T (p.Pro525Leu)	FUS	Mar 12, 2016	MedGen:CN517202	not provided	germline	16	31191431	GTGAGCACAGACAGGATCGCAGGGAGAGGCCGTATTAATTAGCCTGGCTCCCCAGGTTCTG
778251205	389234	NM_001171932.1(CDH23):c.1037C>T (p.Pro346Leu)	CDH23	Jun 04, 2016	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71617296	TCCTGGTTATTGACATCAATGACAATGCCCCGGAGTTCAACAGCTCCGAGTACAGCGTGGC
374268850	482057	NM_018418.4(SPATA7):c.1171C>T (p.Arg391Ter)	SPATA7	Feb 05, 2018	MedGen:CN517202	not provided	germline	14	88437553	TTTTTGTTTATCATTTGTAGGTTTTTAGAACGACTGTTCGAGCGACATATAAAACAAAATA
797045008	205027	NM_000292.2(PHKA2):c.883C>T (p.Arg295Cys)	PHKA2	Mar 05, 2014	MedGen:C0017927,OMIM:306000	Glycogen storage disease type IXa1	unknown	X	18940030	TTCTCTTATTAGGGGCGTTATGGATGCTGTCGCTTCCTTCGAGATGGTTATAAAACTCCAA
200646556	265742	NM_000070.2(CAPN3):c.1250C>T (p.Thr417Met)	CAPN3	Mar 03, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42399548	ATTTCACAAAGTTGGAGATCTGCAACCTCACGGCCGATGCTCTGCAGTCTGACAAGCTTCA
760670617	187228	NM_014822.3(SEC24D):c.3044C>T (p.Ser1015Phe)	SEC24D	Mar 05, 2015	MedGen:C4225382,OMIM:616294	Cole-Carpenter syndrome 2	germline	4	118723570	TAGAAGACAAAGGACTTTACGGAGGCTCTTCTTATGTGGATTTCCTTTGTTGTGTTCACAA
199503269	405611	NM_173076.2(ABCA12):c.7444C>T (p.Arg2482Ter)	ABCA12	Aug 14, 2015	MedGen:CN517202	not provided	germline	2	214937608	TATTTTGCACTTTTTCTTTCTAGGTTTGGACGAGGATTTACTGTCAAAGTTCACTTGAAGA
387906710	38906	NM_013444.3(UBQLN2):c.1489C>T (p.Pro497Ser)	UBQLN2	Aug 21, 2011	MedGen:C3275459,OMIM:300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	germline	X	56565362	ACCGCTATAGGCCCTGTAGGCCCAGTCACCCCCATAGGCCCCATAGGCCCTATAGTCCCTT
137853229	21102	NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter)	RECQL4	Jun 12, 2017	MedGen:C0265308,OMIM:218600,Orphanet:ORPHA1225,SNOMED CT:77608001;MedGen:C0032339,OMIM:268400,Orphanet:ORPHA2909,SNOMED CT:69093006	Baller-Gerold syndrome;Rothmund-Thomson syndrome	germline	8	144513412	GGCATGTGCAGCCGGGAACGGCGGCGGGTACAGCGAGCCTTCATGCAGGGCCAGTTGCGGG
80356682	29578	NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter)	LAMB3	Oct 17, 2017	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006;MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006;MedGen:CN517202	Adult junctional epidermolysis bullosa;Junctional epidermolysis bullosa gravis of Herlitz;not provided	germline;unknown	1	209625721	CTAGATGCAAAGAGTAAGATTGAGCAGATCCGAGCAGTTCTCAGCAGCCCCGCAGTCACAG
587781191	165746	NM_130838.1(UBE3A):c.961C>T (p.Gln321Ter)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25371153	GACCAGATTCGGAGAATGATGGAGACATTTCAGCAACTTATTACTTATAAAGTCATAAGCA
796053103	201429	NM_001165963.1(SCN1A):c.5710C>T (p.Gln1904Ter)	SCN1A	Sep 17, 2014	MedGen:CN517202	not provided	germline	2	165991565	ATGGCTTCCAATCCTTCCAAGGTCTCCTATCAGCCAATCACTACTACTTTAAAACGAAAAC
373957300	171267	NM_001519.3(BRF1):c.776C>T (p.Thr259Met)	BRF1	Jan 05, 2015	MedGen:C4015495,OMIM:616202,Orphanet:ORPHA444072;MedGen:CN221667	Cerebellofaciodental syndrome;cerebellar-facial-dental syndrome	germline	14	105228832	TCATCAGTGTGGTCAAAGTGTGTGAGTCCACGCTGCGGAAGAGGTGAGGGGCTCTCATTCA
28933098	29153	NM_000257.3(MYH7):c.5533C>T (p.Arg1845Trp)	MYH7	Apr 14, 2009	MedGen:C1842160,OMIM:608358,SNOMED CT:699267007;Gene:8090,MedGen:CN074265,OMIM:181430,Orphanet:ORPHA437572	Myosin storage myopathy;Scapuloperoneal myopathy, MYH7-related	germline	14	23415021	GAGTCGGTGAAGGGCATGAGGAAGAGCGAGCGGCGCATCAAGGAGCTCACCTACCAGGTGC
104894960	26475	NM_003413.3(ZIC3):c.745C>T (p.Gln249Ter)	ZIC3	Jan 01, 2004	MedGen:C1844020,OMIM:306955	Heterotaxy, visceral, X-linked	germline	X	137567436	TTCTTCCGTTATATGCGGCAGCCTATCAAGCAGGAGCTGTCGTGCAAGTGGATCGACGAGG
797044962	204638	NM_032436.3(CHAMP1):c.1192C>T (p.Arg398Ter)	CHAMP1	Sep 03, 2015	MedGen:C4225275,OMIM:616579;MedGen:CN232368	Mental retardation, autosomal dominant 40;intellectual disability with severe speech impairment	de novo;germline	13	114325034	GAGTCATGGAAGTCTGGCCCACCAGAACTCCGAAAGACAGCTCCCACGTTGTCTCCTGAAC
727503504	176073	NM_000363.4(TNNI3):c.508C>T (p.Arg170Trp)	TNNI3	Jul 20, 2017	MedGen:C0007196,Orphanet:ORPHA217632;MedGen:C0340429,Orphanet:ORPHA217635,SNOMED CT:233878008;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Cardiomyopathy, restrictive;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;not provided	de novo;germline	19	55154071	GGGGCCCGGGCTAAGGAGTCCCTGGACCTGCGGGCCCACCTCAAGCAGGTGAAGAAGGAGG
397508684	68569	NM_000492.3(CFTR):c.4144C>T (p.Gln1382Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117665466	GTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCAT
1064325	100569	NM_004006.2(DMD):c.5530C>T (p.Arg1844Ter)	DMD	Apr 25, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32345999	TTACAACAAAGAATCACAGATGAGAGAAAGCGAGAGGAAATAAAGATAAAACAGCAGCTGT
120074185	18165	NM_000218.2(KCNQ1):c.1663C>T (p.Arg555Cys)	KCNQ1	Jan 09, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2776032	TACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCAC
41556519	31832	NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp)	ERCC2	May 09, 2017	MedGen:C0268138,OMIM:278730,SNOMED CT:68637004;MedGen:CN517202	Xeroderma pigmentosum, group D;not provided	germline	19	45352352	TCTGTCCCTGGCCTGCGCTTCTGCCCACAGCGGTTTGCCCGTGGGGACAAGCGGGGGAAGC
371637724	214251	NM_001134831.1(AHI1):c.1516C>T (p.Arg506Ter)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135448400	TTGCAGCTATATTACCCACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTG
374140736	199304	NM_001256850.1(TTN):c.43360C>T (p.Arg14454Ter)	TTN	Aug 04, 2015	MedGen:CN517202	not provided	germline	2	178616508	AGTCCGTTAACTGGATACGTTGTTGAAAAACGAGAAGTCAGCCGGAAAACATGGACTAAAG
796053368	202320	NM_003165.3(STXBP1):c.1439C>T (p.Pro480Leu)	STXBP1	Nov 10, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 4;not provided	germline	9	127678510	AGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTTAGTGC
372445155	361031	NM_000271.4(NPC1):c.1421C>T (p.Pro474Leu)	NPC1	Oct 07, 2014	Human Phenotype Ontology:HP:0002524,MedGen:C0007384,SNOMED CT:46263000;Human Phenotype Ontology:HP:0001251,MedGen:C0007758,SNOMED CT:85102008;Human Phenotype Ontology:HP:0100543,MedGen:C0683322;Human Phenotype Ontology:HP:0002315,MedGen:C0018681;Human Phenotype Ontology:HP:0002172,MedGen:C1843921;Human Phenotype Ontology:HP:0011098,MedGen:C0349391	Cataplexy;Cerebellar ataxia;Cognitive impairment;Headache;Postural instability;Speech apraxia	unknown	18	23554890	TTCAAGACATCTGCTTGGCCCCTCTTTCACCGTATAACACGAACTGCACCATTTTGAGTGT
111033804	36645	NM_000155.3(GALT):c.989C>T (p.Ala330Val)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649494	CTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGA
1060499626	380443	NM_006624.5(ZMYND11):c.22C>T (p.Arg8Ter)	ZMYND11	Feb 09, 2017	MedGen:C4015167,OMIM:616083	Mental retardation, autosomal dominant 30	de novo	10	180034	AAACAGGTCATGGCACGTTTAACAAAAAGACGACAGGCGGATACAAAAGCTATCCAGCATC
138189536	185797	NM_005957.4(MTHFR):c.136C>T (p.Arg46Trp)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11802981	GGCCTGGACCCCGAGCGGCATGAGAGACTCCGGGAGAAGATGAGGCGGCGATTGGAATCTG
111033198	52488	NM_000260.3(MYO7A):c.6070C>T (p.Arg2024Ter)	MYO7A	May 19, 2016	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77211170	TGTCTCTGACAGGAGTTGCCCAAGTATCTCCGAGGCTACCACAAGTGCACGCGGGAGGAGG
121964979	27028	NM_000170.2(GLDC):c.1166C>T (p.Ala389Val)	GLDC	Jun 05, 2017	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006;MedGen:CN517202	Non-ketotic hyperglycinemia;not provided	germline	9	6595109	TAAATGTTCTTATCTTTTAGGCCCTCTTGGCGAATATGGCTGCCATGTTTGCAATCTACCA
137901350	480562	NM_021067.4(GINS1):c.247C>T (p.Arg83Cys)	GINS1	Jan 10, 2018	MedGen:CN737162,OMIM:617827	IMMUNODEFICIENCY 55	germline	20	25418112	CCAATACCTTCTTGATGTCCTAGGTATGACCGCTTGCTTCGGATCAGAGCACTCAGATGGG
587777107	102968	NM_001013703.3(EIF2AK4):c.1387C>T (p.Arg463Ter)	EIF2AK4	Feb 12, 2014	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	39967713	ATTTGCAAGGAGGATGTGTTTGAGCAAACCCGAGTTCGTTTTAGTGACAATGCTCTGCCTT
796052675	202182	NM_004519.3(KCNQ3):c.679C>T (p.Arg227Ter)	KCNQ3	Mar 03, 2014	MedGen:CN517202	not provided	germline	8	132180255	AACCAAGGCAATGTTCTGGCCACCTCCCTGCGAAGCCTGCGCTTCCTGCAGATCCTGCGCA
137854447	31779	NM_001972.3(ELANE):c.182C>T (p.Ala61Val)	ELANE	Dec 01, 1999	MedGen:C0221023,OMIM:162800,Orphanet:ORPHA2686,SNOMED CT:191347008	Cyclical neutropenia	germline	19	852990	GAGGCCACTTCTGCGGCGCCACCCTGATTGCGCCCAACTTCGTCATGTCGGCCGCGCACTG
1131691768	421925	NM_003482.3(KMT2D):c.12466C>T (p.Gln4156Ter)	KMT2D	Nov 17, 2015	MedGen:CN517202	not provided	germline	12	49032239	GGGTCCATGACCCAGAACCTTCTGGGCCCCCAACAGCCCATGCTAGAGCGGCCCATGCAAA
29001665	17327	NM_015046.5(SETX):c.994C>T (p.Arg332Trp)	SETX	Jan 26, 2016	MedGen:C1853761,OMIM:606002;MedGen:CN517202	Spinocerebellar ataxia autosomal recessive 1;not provided	germline	9	132331293	GCAAGCTACAATAGAGAGATCCGACATATACGGAACAGCTCTGTAAGGTTAGTTCAGCTAA
59856285	29640	NM_005557.3(KRT16):c.379C>T (p.Arg127Cys)	KRT16	Dec 11, 2017	MedGen:C1706595,OMIM:167200;MedGen:C2751804,OMIM:613000;MedGen:CN517202	Pachyonychia congenita 1;Palmoplantar keratoderma, nonepidermolytic, focal;not provided	germline;paternal	17	41612310	GAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTG
606231223	31431	NM_005141.4(FGB):c.958+13C>T	FGB	Dec 15, 2002	MedGen:C2584774,OMIM:202400,Orphanet:ORPHA98880	Afibrinogenemia, congenital	germline	4	154569320	ATTACTGTGGCCTACCAGGTAACGAACAGGCATGCAAAATAAAATCATTCTATTTGAAATG
121909330	23508	NM_007126.4(VCP):c.463C>T (p.Arg155Cys)	VCP	Jun 23, 2016	MedGen:C1833662,OMIM:167320,Orphanet:ORPHA52430;MedGen:CN517202	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;not provided	germline	9	35065364	TTTGCTCTCGCAGGAGACATTTTTCTTGTCCGTGGTGGGATGCGTGCTGTGGAGTTCAAAG
104894494	29385	NM_002435.2(MPI):c.305C>T (p.Ser102Leu)	MPI	Jun 01, 1998	MedGen:C1865145,OMIM:602579,Orphanet:ORPHA79319	Congenital disorder of glycosylation type 1B	germline	15	74891539	GCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACA
193922365	45102	NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val)	KCNQ1	Apr 03, 2015	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007	Congenital long QT syndrome;Long QT syndrome	germline	11	2572970	GCCGCGTGGAGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACT
137852506	25123	NM_000194.2(HPRT1):c.193C>T (p.Leu65Phe)	HPRT1	Dec 30, 2010	MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	germline	X	134475239	AAGGAGATGGGAGGCCATCACATTGTAGCCCTCTGTGTGCTCAAGGGGGGCTATAAATTCT
80358434	65796	NM_000059.3(BRCA2):c.1456C>T (p.Gln486Ter)	BRCA2	Aug 17, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	13	32332934	TCTCATACAGACTGCATTCTTGCAGTAAAGCAGGCAATATCTGGAACTTCTCCAGTGGCTT
690016556	171827	NM_005211.3(CSF1R):c.2629C>T (p.Gln877Ter)	CSF1R	Oct 31, 2017	Gene:8156,MedGen:C1857300,OMIM:221820;MedGen:CN517202	Hereditary diffuse leukoencephalopathy with spheroids;not provided	germline	5	150055262	AAACTGGTGAAGGATGGATACCAAATGGCCCAGCCTGCATTTGCCCCAAAGAATATGTAAG
113994053	20988	NM_003907.2(EIF2B5):c.545C>T (p.Thr182Met)	EIF2B5	Aug 31, 2016	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854;MedGen:CN517202	Leukoencephalopathy with vanishing white matter;not provided	germline	3	184137936	GGAAGCTAGAAAAAAATGTTTCTGTGATGACGATGATCTTCAAGGAGTCATCCCCCAGCCA
121913027	31816	NM_001983.3(ERCC1):c.472C>T (p.Gln158Ter)	ERCC1	Mar 01, 2007	MedGen:C1853100,OMIM:610758	Cerebrooculofacioskeletal syndrome 4	germline	19	45419151	CTGCACCCAGACTACATCCATGGGCGGCTGCAGAGCCTGGGGAAGAACTTCGCCTTGCGGG
56275071	31167	NM_005271.4(GLUD1):c.820C>T (p.Arg274Cys)	GLUD1	Jan 01, 2001	MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878	Hyperinsulinism-hyperammonemia syndrome	germline	10	87062757	GGAATCCATGGACGCATCTCTGCTACTGGCCGTGGTGTCTTCCATGGGATTGAAAATTTCA
764466442	182979	NM_004329.2(BMPR1A):c.1081C>T (p.Arg361Ter)	BMPR1A	Jun 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome	germline	10	86919384	GGCACCCAAGGAAAGCCCGCAATTGCTCATCGAGACCTAAAGAGCAAAAACATCCTCATCA
1057520708	377845	NM_000303.2(PMM2):c.157C>T (p.Gln53Ter)	PMM2	May 20, 2015	MedGen:CN517202	not provided	germline	16	8801889	GTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGGTAAATGAT
-1	450992	NM_014946.3(SPAST):c.421C>T (p.Gln141Ter)	SPAST	May 24, 2017	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32087497	ATACAAATAATTTTTTATTTTAAAGCAGGACAGAAGGAGCAAGCTGTGGAATGGTATAAGA
886037931	248761	NM_013328.3(PYCR2):c.796C>T (p.Arg266Ter)	PYCR2	Dec 12, 2017	MedGen:C4225332,OMIM:616420;MedGen:CN517202	Leukodystrophy, hypomyelinating, 10;not provided	germline	1	225921209	AATGCAGTTGAGGCCTCCTGTATCCGAACACGGTGAGTCCATCCCGCGGACTTCTGTCCCA
104894186	18464	NM_178161.2(PTF1A):c.886C>T (p.Arg296Ter)	PTF1A	Dec 01, 2004	MedGen:C1836780,OMIM:609069,Orphanet:ORPHA65288	Diabetes mellitus, permanent neonatal, with cerebellar agenesis	germline	10	23193805	GAAAAACAACTCAAGGAACAAAATATTATCCGAACAGCCAAAGTCTGGACCCCAGAGGACC
397508840	68811	NM_007294.3(BRCA1):c.1138C>T (p.Gln380Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43094393	GTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTG
606231417	170953	NM_005214.4(CTLA4):c.151C>T (p.Arg51Ter)	CTLA4	Sep 26, 2014	MedGen:C4015214,OMIM:616100,Orphanet:ORPHA436159	Autoimmune lymphoproliferatiVe syndrome, type V	germline	2	203870627	GCCCAGCCTGCTGTGGTACTGGCCAGCAGCCGAGGCATCGCCAGCTTTGTGTGTGAGTATG
886041278	263995	NM_024529.4(CDC73):c.355C>T (p.Gln119Ter)	CDC73	May 16, 2017	MedGen:CN517202	not provided	germline	1	193135438	GACAGAAGCGCTCCCTTAGAAATAGGTCTTCAGCGATCTACTCAAGGTATGTCTTGTTGCA
754282058	207602	NM_018249.5(CDK5RAP2):c.4207C>T (p.Arg1403Ter)	CDK5RAP2	Jan 29, 2015	MedGen:C1858108,OMIM:604804	Primary autosomal recessive microcephaly 3	germline	9	120415130	GACTTACTAATGGAACACATACAGGAAATTCGAACTTTGAGAAAGCGTTTAGAAGAATCTA
1114167399	413979	NM_000088.3(COL1A1):c.3607C>T (p.Gln1203Ter)	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	maternal	17	50186847	AGCGCTGGTTTCGACTTCAGCTTCCTGCCCCAGCCACCTCAAGAGAAGGCTCACGATGGTG
-1	443693	NM_005859.4(PURA):c.733C>T (p.Arg245Ter)	PURA	Oct 12, 2017	MedGen:CN517202	not provided	germline	5	140114914	GTGGGCTCCAACAAGTACGGCGTGTTTATGCGAGTGAGCGAGGTGAAGCCCACCTATCGCA
587783081	166454	NM_003159.2(CDKL5):c.413C>T (p.Pro138Leu)	CDKL5	May 03, 2013	MedGen:CN517202	not provided	germline	X	18581900	TTTTTTATCTTGACACTCCAGATATAAAACCAGAAAATCTCTTAATCAGCCACAATGATGT
1057524002	373328	NM_001005463.2(EBF3):c.370C>T (p.Gln124Ter)	EBF3	Dec 09, 2016	MedGen:CN517202	not provided	germline	10	129962212	CTCTGTTTTTTTGCAGGAGTCAGAACAGAGCAAGATCTGTATGTTCGCCTCATAGATTCAA
121918615	27964	NM_000702.3(ATP1A2):c.2936C>T (p.Pro979Leu)	ATP1A2	May 16, 2017	MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000;MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine;Familial hemiplegic migraine type 2	germline	1	160139735	CAGGCATGGGTGTAGCCCTCCGCATGTACCCGCTCAAGTGAGTGTCTCTTTCGGGCGGCCT
869312834	226508	NM_015100.3(POGZ):c.3847C>T (p.Gln1283Ter)	POGZ	Mar 23, 2016	MedGen:C4225351,OMIM:616364,Orphanet:ORPHA468678	White-sutton syndrome	germline	1	151405188	AAGAACTTCCTGCATAAAAAATGGAAGGAACAGGCTCGGGAAATGGCAGATACTGCATGTG
397514871	75755	NM_000368.4(TSC1):c.2698C>T (p.Gln900Ter)	TSC1	Aug 09, 2013	MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 1;Tuberous sclerosis syndrome	germline	9	132897538	AAAAACAGAAGCCATGTTCTCCAGCAGACTCAGAGGCTTGATACCTCCCAAAAACGGATTT
121918312	21020	NM_004281.3(BAG3):c.626C>T (p.Pro209Leu)	BAG3	May 25, 2016	MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340;MedGen:CN517202	Myofibrillar myopathy, BAG3-related;not provided	germline;unknown	10	119672373	ACCAGCTCCCGCGGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACGTTACCCGGCC
104894033	15103	NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser)	OPN1SW	Aug 01, 1992	MedGen:C0155017,OMIM:190900,Orphanet:ORPHA88629	Tritanopia	germline	7	128773786	ATGGTAGGATCCTTCTGTGTCTGCTACGTGCCCTACGCGGCCTTCGCCATGTACATGGTCA
-1	468575	NM_000152.4(GAA):c.2740C>T (p.Gln914Ter)	GAA	May 29, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80118746	GTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCT
1060499734	389128	NM_006295.2(VARS):c.2653C>T (p.Leu885Phe)	VARS	Dec 11, 2017	Human Phenotype Ontology:HP:0012443,MedGen:C4021085;MedGen:CN679649,OMIM:617802	Abnormality of brain morphology;NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	germline;inherited	6	31780935	ACCTGACTGCTCCCACTCCACCCTCAGGGCCTCCACAACCAGCTGCTGAACAGCAACCTGG
587777656	153784	NM_006662.2(SRCAP):c.7000C>T (p.Gln2334Ter)	SRCAP	May 01, 2014	MedGen:C0729582,OMIM:136140,Orphanet:ORPHA2044,SNOMED CT:312214005	Floating-Harbor syndrome	germline	16	30736616	CTGGAGGAGGTGAGCCGAGAGGAGCTCAAACAGGCAGAAGTGAGTATTTCCAGGGGTGGGG
121912865	32392	NM_001844.4(COL2A1):c.2155C>T (p.Arg719Cys)	COL2A1	Jan 01, 1998	MedGen:C1858079,OMIM:604864,Orphanet:ORPHA93279	Osteoarthritis with mild chondrodysplasia	germline	12	47982886	TCTCCCGGTGCCCAGGGCCTCCAGGGTCCCCGTGGCCTCCCCGGCACTCCTGGCACTGATG
-1	465745	NM_004380.2(CREBBP):c.508C>T (p.Gln170Ter)	CREBBP	Jun 19, 2017	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3850587	GGGCTGGCGACTAGCAGCCCTGCCACGTCACAGACTGGACCTGGTATCTGCATGAATGCTA
587777732	165951	NM_000457.4(HNF4A):c.253C>T (p.Arg85Trp)	HNF4A	Apr 27, 2017	MedGen:C4014962,OMIM:616026;Human Phenotype Ontology:HP:0000842,MedGen:C0020459;MedGen:CN202290,Orphanet:ORPHA263455;MedGen:CN517202	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Hyperinsulinemia;Hyperinsulinism due to HNF4A deficiency;not provided	germline;unknown	20	44406195	TCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACT
-1	469692	NM_000540.2(RYR1):c.3688C>T (p.Gln1230Ter)	RYR1	Apr 28, 2017	MedGen:CN239331	RYR1-Related Disorders	germline	19	38469436	GAAGGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAG
886039335	260314	NM_000397.3(CYBB):c.469C>T (p.Arg157Ter)	CYBB	Mar 25, 2015	MedGen:CN517202	not provided	germline	X	37793796	AGGCAAAATGAAAGTTATCTCAATTTTGCTCGAAAGAGAATAAAGGTAAGCCTCTCATTAT
121918350	22658	NM_000214.2(JAG1):c.550C>T (p.Arg184Cys)	JAG1	Jun 01, 1998	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10658612	ACGGGCGTTGCCCACTTTGAGTATCAGATCCGCGTGACCTGTGATGACTACTACTATGGCT
886041975	264866	NM_015338.5(ASXL1):c.1282C>T (p.Gln428Ter)	ASXL1	Sep 15, 2016	MedGen:CN517202	not provided	germline	20	32433480	ACCAGAGCCAGAAGGAATCTGTACAAAAAACAGGAGTCAGAACAAGCAGGGGTTGCTAAGG
121908492	20815	NM_003919.2(SGCE):c.1114C>T (p.Arg372Ter)	SGCE	Dec 13, 2016	MedGen:C1834570,OMIM:159900,Orphanet:ORPHA36899,SNOMED CT:439732004	Myoclonic dystonia	germline	7	94598914	AGTGCTATTCAGAAATCTACCAAGGAGCTTCGAGACATGTCCAAGAATAGAGAGATAGCAT
58596362	29539	NM_170707.3(LMNA):c.1824C>T (p.Gly608=)	LMNA	Feb 04, 2016	MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004;MedGen:CN236383,Orphanet:ORPHA98301;MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED CT:400128006;MedGen:C0432291,OMIM:248370,Orphanet:ORPHA2457,SNOMED CT:109419009;MedGen:CN517202	Hutchinson-Gilford syndrome;Laminopathy;Lethal tight skin contracture syndrome;Mandibuloacral dysostosis;not provided	germline;unknown	1	156138613	ATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCC
587777340	132641	NM_005861.3(STUB1):c.493C>T (p.Leu165Phe)	STUB1	Jan 01, 2013	MedGen:C4014261,OMIM:615768,Orphanet:ORPHA412057	Spinocerebellar ataxia, autosomal recessive 16	germline	16	681572	ATCCACCAGGAGAGCGAGCTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGA
104893655	28822	NM_013953.3(PAX8):c.322C>T (p.Arg108Ter)	PAX8	May 01, 1998	Human Phenotype Ontology:HP:0008188,MedGen:C1563716,OMIM:218700	Thyroid agenesis	germline	2	113244494	CAGAACCCTACCATGTTTGCCTGGGAGATCCGAGACCGGCTCCTGGCTGAGGGCGTCTGTG
387906709	167455	NM_013444.3(UBQLN2):c.1490C>T (p.Pro497Leu)	UBQLN2	Feb 04, 2015	MedGen:C3275459,OMIM:300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	germline	X	56565363	CCGCTATAGGCCCTGTAGGCCCAGTCACCCCCATAGGCCCCATAGGCCCTATAGTCCCTTT
570942190	181252	NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841;MedGen:CN517202	Familial hypercholesterolemia;Familial hypercholesterolemias;not provided	germline;inherited;not applicable	19	11113337	CGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACC
904072058	440249	NM_014927.4(CNKSR2):c.2134C>T (p.Arg712Ter)	CNKSR2	Dec 09, 2017	MedGen:CN679647,OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE	germline	X	21606868	AGCCCTCCACCCCCATATGATACATACCCACGACCTCCCTCGGTAAGTTAGCAACAAGAAC
886043428	270814	NM_004006.2(DMD):c.6223C>T (p.Gln2075Ter)	DMD	Mar 10, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32287596	AGTGCAACGCCTGTGGAAAGGGTGAAGCTACAGGAAGCTCTCTCCCAGCTTGATTTCCAAT
1057516124	353973	NM_172107.3(KCNQ2):c.1783C>T (p.Arg595Trp)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63408517	GTTCCCGGTAGAGTGGACCAGATCGTGGGGCGGGGCCCAGCGATCACGGACAAGGACCGCA
1135401795	424678	NM_015185.2(ARHGEF9):c.865C>T (p.Arg289Ter)	ARHGEF9	Jan 06, 2017	MedGen:C1845102,OMIM:300607,Orphanet:ORPHA163985	Early infantile epileptic encephalopathy 8	paternal	X	63674097	AATGTGACTCAGCAGATCAACGAACGCAAGCGACGTTTAGAGAATATTGACAAGATTGCTC
387907069	39912	NM_005198.4(CHKB):c.922C>T (p.Gln308Ter)	CHKB	Jun 10, 2011	MedGen:C1865233,OMIM:602541,Orphanet:ORPHA280671	Muscular dystrophy, congenital, megaconial type	germline	22	50579979	GCAAGGCCCACAGACTACCCCACTCAAGAACAGCAGGTATGTGGGCCAGAGGCTGGGGAGC
137854431	27749	NM_004614.4(TK2):c.323C>T (p.Thr108Met)	TK2	Jun 02, 2017	MedGen:C3149750,OMIM:609560;MedGen:CN517202	Mitochondrial DNA depletion syndrome 2;not provided	germline	16	66531432	TGTACCACGATGCCTCTCGCTGGGGTCTTACGCTACAGACTTATGTGCAGCTCACCATGCT
104894455	29034	NM_000270.3(PNP):c.70C>T (p.Arg24Ter)	PNP	Jul 01, 1998	MedGen:C0268125,OMIM:613179,Orphanet:ORPHA760,SNOMED CT:60743005	Purine-nucleoside phosphorylase deficiency	germline	14	20472366	GCAGAATGGCTTCTGTCTCACACTAAGCACCGACCTCAAGTTGCAATAATCTGTGGTTCTG
80356989	69812	NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter)	BRCA1	Jul 27, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43082539	GATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGT
398123224	98478	NM_000169.2(GLA):c.901C>T (p.Arg301Ter)	GLA	Aug 04, 2015	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline	X	101398468	GCTGCTCCTTTATTCATGTCTAATGACCTCCGACACATCAGCCCTCAAGCCAAAGCTCTCC
886041592	264743	NM_002693.2(POLG):c.925C>T (p.Arg309Cys)	POLG	Jul 22, 2016	MedGen:CN517202	not provided	germline	15	89329041	ATGGCCATCTCAGGGCTAAGCAGCTTCCAGCGCAGTCTGTGGATAGCAGCCAAGCAGGGCA
1060503388	395630	NM_021147.4(CCNO):c.775C>T (p.Gln259Ter)	CCNO	Oct 17, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	55231653	CAGGCTGAGGCCTCCGAAGCTCTGGAAGCGCAAGCCCTGGCGCGGGGGGTGGCAGAGCTGA
193921148	39156	NM_004456.4(EZH2):c.394C>T (p.Pro132Ser)	EZH2	Jan 13, 2012	MedGen:C0265210,OMIM:277590,SNOMED CT:63119004	Weaver syndrome	germline	7	148829818	GTGGAAGATGAAACTGTTTTACATAACATTCCTTATATGGGAGATGAAGTTTTAGATCAGG
121909231	22872	NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter)	PTEN	Oct 05, 2017	MedGen:C0265326,OMIM:153480,Orphanet:ORPHA109;MedGen:CN072330,OMIM:158350;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:C1866398,Orphanet:ORPHA2969;MedGen:CN517202	Bannayan-Riley-Ruvalcaba syndrome;Cowden syndrome 1;Hereditary cancer-predisposing syndrome;Macrocephaly/autism syndrome;Neoplasm of brain;PTEN hamartoma tumor syndrome;Proteus-like syndrome;not provided	de novo;germline;somatic;unknown	10	87961095	CTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTTCTCCAAATTTTAAGGTCAGTT
75068032	442138	NM_000435.2(NOTCH3):c.1672C>T (p.Arg558Cys)	NOTCH3	Jul 01, 2016	MedGen:CN517202	not provided	germline	19	15187273	GACTGCTCCCCTGACCCATGCCACCATGGTCGCTGCGTGGATGGCATCGCCAGCTTCTCAT
111033334	17400	NM_206933.2(USH2A):c.2209C>T (p.Arg737Ter)	USH2A	Oct 01, 2015	MedGen:C3151138,OMIM:613809;MedGen:C1848634,OMIM:276901	Retinitis pigmentosa 39;Usher syndrome, type 2A	germline	1	216247185	GATCATTGCAATTTTGGATTTAAATTTCTCCGAAGCTTTAATGATGTTGGATGTGAGCCCT
281875226	39299	NM_003072.3(SMARCA4):c.2576C>T (p.Thr859Met)	SMARCA4	Mar 18, 2012	MedGen:C3553249,OMIM:614609;MedGen:CN517202	Mental retardation, autosomal dominant 16;not provided	germline	19	11019661	GGAGTGGGAAGTTCAACGTCTTGCTGACGACGTACGAGTACATCATCAAAGACAAGCACAT
79728106	66080	NM_000059.3(BRCA2):c.3166C>T (p.Gln1056Ter)	BRCA2	Oct 14, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32337521	GAAATTGTAAATACCTTGGCATTAGATAATCAAAAGAAACTGAGCAAGCCTCAGTCAATTA
757369209	214096	NM_006245.3(PPP2R5D):c.157C>T (p.Pro53Ser)	PPP2R5D	Aug 03, 2015	MedGen:C4225354,OMIM:616355,Orphanet:ORPHA457279	Mental retardation, autosomal dominant 35	germline	6	43006514	CAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCA
128626232	26272	NM_004006.2(DMD):c.2017C>T (p.Gln673Ter)	DMD	Sep 01, 1995	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32545310	TCACAGATTTCACAGGCTGTCACCACCACTCAGCCATCACTAACACAGACAACTGTAATGG
367543006	34106	NM_001024943.1(ASL):c.346C>T (p.Gln116Ter)	ASL	Feb 03, 2011	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	not provided	7	66082934	AAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCTGCTCC
727503528	176305	NM_001039141.2(TRIOBP):c.6598C>T (p.Arg2200Ter)	TRIOBP	Nov 05, 2013	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	22	37769050	TGGGGCAGGTCAGATGTGGAGGCACTGAAGCGAGAGCTGCAGGTGCTATCGGAGCAGTACT
864622784	222931	NM_005879.2(TRAIP):c.52C>T (p.Arg18Cys)	TRAIP	Jan 29, 2016	MedGen:C4225212,OMIM:616777	Seckel syndrome 9	germline	3	49856402	ACTATCTGCTCCGACTTCTTCGATCACTCCCGCGACGTGGCCGCCATCCACTGCGGCCACA
104893846	18197	NM_172250.2(MMAA):c.283C>T (p.Gln95Ter)	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145639422	TTTGTGGATAAACTTTATACTGGTTTAATCCAAGGGCAAAGGGCCTGTTTAGCAGAGGCCA
387907031	39814	NM_020754.3(ARHGAP31):c.2047C>T (p.Gln683Ter)	ARHGAP31	May 13, 2011	Gene:100188340,MedGen:CN028867,OMIM:100300	Adams-Oliver syndrome 1	germline	3	119413976	CCACCTCCTGCTCTGAAGACCAGCCCAATTCAGCCTATTCTCGAGTCGAGTCTGGGGCCCT
61749409	104973	NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4	Jan 22, 2016	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Retinal dystrophy;Stargardt disease 1;not provided	germline;unknown	1	94062710	GGTCCCAGAGCTGATCCCGTGGAAGATTTCCGGTACATCTGGGGCGGGTTTGCCTATCTGC
886039265	259364	NM_001242896.1(DEPDC5):c.3046C>T (p.Gln1016Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31846858	CTTTAGAAAGGGACCGCCATGAAAGGCTTGCAGATGACTGGGCCCATTTCCACGCATTCTC
281864968	47695	NM_024312.4(GNPTAB):c.940C>T (p.Gln314Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101770579	TCATATGCCAAGTGTTTTTCTCAGTCTAAGCAGGATGAAGACATCTCTGCCAGTCGTTTTG
886039659	259879	NM_194456.1(KRIT1):c.802C>T (p.Gln268Ter)	KRIT1	Jul 01, 2016	MedGen:CN517202	not provided	germline	7	92234851	CCAGACTACTCAAAAATCCAAATACCTAAACAGGAAAAATGGCAGAGAAGCATGAGCAGTG
397515419	48322	NM_003846.2(PEX11B):c.64C>T (p.Gln22Ter)	PEX11B	May 01, 2012	MedGen:C3554055,OMIM:614920	Peroxisome biogenesis disorder 14B	germline	1	145917809	ACCTTGCCTGCCCTCTCCTCTAGGGCCGCCCAGTATGCTTGCTCTCTTCTTGGCCATGCGC
886039688	259904	NM_017780.3(CHD7):c.6613C>T (p.Gln2205Ter)	CHD7	Aug 01, 2016	MedGen:CN517202	not provided	germline	8	60853338	GAAACCGATGGCAGCGGGAAGGAGAGCAAGCAGGAATGTGAGGCAGAGGCCAGCTCTGTGA
397514588	48378	NM_173591.3(OTOGL):c.547C>T (p.Arg183Ter)	OTOGL	Nov 02, 2012	MedGen:C3554159,OMIM:614944	Deafness, autosomal recessive 84b	germline	12	80229341	AGCTTGTTCTTTTCAAACCAAGAGGAAATTCGAATTTATGGTCATGAAATAAAAAAGAATG
137852244	25634	NM_000133.3(F9):c.709C>T (p.Gln237Ter)	F9	Sep 11, 2013	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139551250	GTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATG
1085307360	414315	NM_001204.6(BMPR2):c.1483C>T (p.Q495*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202552785	GACCAGGATGCAGAGGCTCGGCTTACTGCACAGTGTGCTGAGGAAAGGATGGCTGAACTTA
886039332	259765	NM_001904.3(CTNNB1):c.1603C>T (p.Arg535Ter)	CTNNB1	Aug 15, 2017	MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473;MedGen:CN517202	Mental retardation, autosomal dominant 19;not provided	germline	3	41234217	GCACCTTTGCGTGAGCAGGGTGCCATTCCACGACTAGTTCAGTTGCTTGTTCGTGCACATC
587784122	168192	NM_022455.4(NSD1):c.4681C>T (p.Gln1561Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177251769	AAATTGGGTGAGCTGCTGTTATGTGAGGCTCAGTGCTGTGGGGCTTTCCACCTGGAGTGCC
121918629	27933	NM_006920.4(SCN1A):c.5093C>T (p.Thr1698Ile)	SCN1A	Mar 01, 2003	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	germline	2	165992149	TTGGGATCGATGACATGTTCAACTTTGAGACCTTTGGCAACAGCATGATCTGCCTATTCCA
121434442	21846	NM_004984.3(KIF5A):c.838C>T (p.Arg280Cys)	KIF5A	Aug 12, 2014	MedGen:C1858712,OMIM:604187,Orphanet:ORPHA100991	Spastic paraplegia 10	germline	12	57569274	TTCCTCCCCCAGAAAAGCTATGTTCCATATCGTGACAGCAAAATGACAAGGATTCTCCAGG
143083947	203835	NM_000026.3(ADSL):c.5C>T (p.Ala2Val)	ADSL	Apr 09, 2012	MedGen:CN517202	not provided	germline	22	40346563	CACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAG
1057521138	379245	NM_003639.4(IKBKG):c.502C>T (p.Gln168Ter)	IKBKG	Jan 12, 2017	MedGen:CN517202	not provided	germline	X	154558634	AGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAG
397514608	48418	NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter)	OTOG	Nov 27, 2012	MedGen:C3554163,OMIM:614945	Deafness, autosomal recessive 18b	germline	11	17613696	GCCCATCAGGTCACTATTGATCGCTTCAACCGAAAGGTGAGTGCATCAAACAGCCAGCCTC
137853103	23059	NM_005327.4(HADH):c.773C>T (p.Pro258Leu)	HADH	Aug 01, 2001	MedGen:C1864948,OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	germline	4	108033239	TGAAATTAGGAGCCGGTTACCCCATGGGCCCATTTGAGCTTCTAGATTATGTCGGACTGGA
137853244	29982	NM_000545.6(HNF1A):c.391C>T (p.Arg131Trp)	HNF1A	Aug 17, 2017	MedGen:C1838100,OMIM:600496;MedGen:CN517202	Maturity-onset diabetes of the young, type 3;not provided	germline	12	120988897	TCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAACC
753254213	364923	NM_020247.4(COQ8A):c.1228C>T (p.Arg410Ter)	COQ8A	Jun 15, 2015	MedGen:CN517202	not provided	germline	1	226983826	CGGGAGCTGGCCCTGGAGTGTGACTACCAGCGAGAGGCCGCCTGTGCCCGCAAGTTCAGGT
281865549	39933	NM_018081.2(WRAP53):c.1126C>T (p.His376Tyr)	WRAP53	May 10, 2012	MedGen:C3151442,OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	germline	17	7702514	CACCAAGGGGGCATCACCCACCTCTGCTTTCATCCCGATGGCAACCGCTTCTTCTCAGGAG
864309642	200390	NM_015340.3(LARS2):c.899C>T (p.Thr300Met)	LARS2	Dec 10, 2015	MedGen:C3809105,OMIM:615300;MedGen:C3809105,OMIM:615300	Perrault syndrome 4;Perrault syndrome 4	germline	3	45476508	AAGCCACGGGCGAAAAGCTGACTGCCTATACGGCCACCCCTGAAGCCATTTATGGCACCTC
587784129	168202	NM_022455.4(NSD1):c.4907C>T (p.Ser1636Phe)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177257092	CTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGC
137886232	39244	NM_002878.3(RAD51D):c.757C>T (p.Arg253Ter)	RAD51D	Dec 15, 2016	MedGen:C3280345,OMIM:614291;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	35101347	TTTCTGCTGCAGGTGACCAACCACATAACTCGAGACAGGGACAGCGGGAGGCTCAAACCTG
587779343	96837	NM_000535.6(PMS2):c.697C>T (p.Gln233Ter)	PMS2	May 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	7	5999116	ATAAAGGAAAATATCGGCTCTGTGTTTGGGCAGAAGCAGGTAGTGATGGCCGGTTACTTCA
145541911	102933	NM_015662.2(IFT172):c.886C>T (p.Arg296Trp)	IFT172	Feb 10, 2014	MedGen:C4017084	Short-rib thoracic dysplasia 10 without polydactyly	germline	2	27480049	TTATACACCATCACTGCCTTGGCCTGGAAGCGGGATGGCTCACGGCTCTGTGTGGTGTGTT
748718975	226666	NM_001937.4(DPT):c.544C>T (p.Arg182Cys)	DPT	Mar 01, 2016	Human Phenotype Ontology:HP:0000408,MedGen:C1843156	Progressive sensorineural hearing impairment	inherited	1	168696611	TCATTTTCTGACTCTCCCTCCCACAGGGATCGCCAGTGGAAGTTCATAATGTGCCGGATGA
876657699	229152	NM_000248.3(MITF):c.808C>T (p.Arg270Ter)	MITF	Jan 12, 2016	MedGen:C3266898,Orphanet:ORPHA3440,SNOMED CT:47434006	Waardenburg syndrome	germline	3	69959370	GAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGC
794728631	197519	NM_130799.2(MEN1):c.1660C>T (p.Gln554Ter)	MEN1	Mar 17, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1;not provided	germline	11	64804507	CCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGC
587783562	169883	NM_178151.2(DCX):c.556C>T (p.Arg186Cys)	DCX	Mar 30, 2017	Human Phenotype Ontology:HP:0002282,MedGen:C0008519;MedGen:CN517202	Heterotopia;not provided	germline	X	111401139	TTTGTGCGCCCCAAGCTGGTTACCATCATCCGCAGTGGGGTGAAGCCTCGGAAGGCTGTGC
199422134	34444	NM_018136.4(ASPM):c.577C>T (p.Gln193Ter)	ASPM	Jan 09, 2015	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197143675	CAAAAAGTTGACAGAGTTAGGAGCCCACTACAAGCTTGTGAAAACTTGGCTATGAATGAAG
371678190	172968	NM_001256850.1(TTN):c.63526C>T (p.Arg21176Ter)	TTN	Aug 14, 2017	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	2	178578066	GGATTAACTGAAGGTCTTGAATATGAATTCCGAGTTATGGCAATCAATTTAGCAGGTGTGG
61752117	21505	NM_004813.2(PEX16):c.526C>T (p.Arg176Ter)	PEX16	May 28, 2015	MedGen:C3553959,OMIM:614876;MedGen:CN517202	Peroxisome biogenesis disorder 8A;not provided	germline	11	45914619	TACGTGGGGAAGCGGTCAAACCGGGTGGTGCGAACCCTCCAGAACAGTAAGTGGAGGATGT
121434616	26378	NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter)	CUL4B	Nov 29, 2014	Human Phenotype Ontology:HP:0001999,MedGen:C0424503;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293	Abnormal facial shape;Global developmental delay;Intellectual disability;Seizures;Short stature;Syndromic X-linked mental retardation, Cabezas type	germline;unknown	X	120544179	CTCCAGATTTATCAAGATTCTTTTGAACAACGATTTTTGGAAGAAACTAACCGGCTCTATG
397507541	49023	NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp)	PTPN11	Jul 14, 2017	MedGen:CN074218,OMIM:151100;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	LEOPARD syndrome 1;Rasopathy;not provided	germline;unknown	12	112489068	ATTGACGTTCCCAAAACCATCCAGATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAG
606231455	171043	NM_001114748.1(TMEM240):c.511C>T (p.Arg171Trp)	TMEM240	Oct 01, 2014	MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773	Spinocerebellar ataxia 21	germline	1	1535370	AAACTCTACCACAATGGCCACCCCAGCCCGCGGCACCTGTGAGCCGCACGGGGACTTACCG
1064796614	411417	NM_001111125.2(IQSEC2):c.3250C>T (p.Gln1084Ter)	IQSEC2	Feb 24, 2017	MedGen:CN517202	not provided	germline	X	53238172	TCCGACCTGCGCGAGTCCATTGCGGAGGTGCAGGAGATGGAGAAATACCGTGTGGAGTGTG
201044262	205000	NM_005045.3(RELN):c.2015C>T (p.Pro672Leu)	RELN	Aug 27, 2015	MedGen:C4225327,OMIM:616436	Epilepsy, familial temporal lobe, 7	germline	7	103640597	TCTTTTTCCCTCCCACAGTTTATATTGGCCCGTCATGTCTCAAATTCTGTTCTGGCAGAGG
199469653	106396	NM_003590.4(CUL3):c.1207-3C>T	CUL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	2	224503825	TTGTATAATTGTTACATCATCTTAATTTTGCAGCTAACAGAACAAGAAGTAGAAACAATAT
61754424	153318	NM_004992.3(MECP2):c.46C>T (p.Gln16Ter)	MECP2	Mar 31, 2003	MedGen:CN517202	not provided	unknown	X	154032538	TAACACTTCAGGGAAGAAAAGTCAGAAGACCAGGACCTCCAGGGCCTCAAGGACAAACCCC
1064796472	410844	NM_032195.2(SON):c.3334C>T (p.Arg1112Ter)	SON	Feb 26, 2017	MedGen:CN517202	not provided	germline	21	33552565	TCTATGATGTCATCGTACTCTGCAGCTGACCGATCTATGATGTCATCTTATACTGCTGATC
145146218	226849	NM_014669.4(NUP93):c.1162C>T (p.Arg388Trp)	NUP93	Apr 06, 2016	MedGen:C4225166,OMIM:616892	Nephrotic syndrome, type 12	germline	16	56831918	GCCCTCAGGAACAATACAGATCCCTACAAGCGGGCCGTGTACTGTATCATTGGCAGATGTG
387906973	39635	NM_057179.2(TWIST2):c.355C>T (p.Gln119Ter)	TWIST2	Aug 13, 2010	MedGen:C1744559,OMIM:227260,SNOMED CT:239051001	Congenital ectodermal dysplasia of face	germline	2	238848570	CTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATA
137854568	15837	NM_000038.5(APC):c.904C>T (p.Arg302Ter)	APC	Apr 22, 2017	MedGen:C1858438;MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0017097,Orphanet:ORPHA79665,SNOMED CT:60876000;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Colorectal cancer, susceptibility to;Familial adenomatous polyposis;Familial adenomatous polyposis 1;Gardner syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112815564	TTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGG
387906432	25191	NM_000132.3(F8):c.43C>T (p.Arg15Ter)	F8	Apr 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	155022510	CTCTCCACCTGCTTCTTTCTGTGCCTTTTGCGATTCTGCTTTAGTGCCACCAGAAGATACT
149592537	130985	NM_001080442.2(SLC38A8):c.598C>T (p.Gln200Ter)	SLC38A8	Dec 05, 2013	MedGen:C4017389	Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis	germline	16	84031901	GTCATCACCGTGCAGTACTACCTCTGGCCCCAGGGCCTCGTGCGTGAGTCCCATCCTTCAC
786205508	188889	NM_017777.3(MKS1):c.1066C>T (p.Gln356Ter)	MKS1	-	MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005;MedGen:CN517202	Meckel-Gruber syndrome;not provided	germline	17	58208542	CCAGCATTCCAGCAGCTCTCAGGAGTAACACAGACCTGCACCACCAAGTCCCTGGCAATGG
886041614	264340	NM_016628.4(WAC):c.451C>T (p.Arg151Ter)	WAC	Aug 23, 2017	MedGen:CN517202	not provided	germline	10	28589805	TCTTCTGGGAAAAAGTACTACTACAATTGTCGAACAGAAGTTTCACAATGGGAAAAACCAA
765824628	259635	NM_019026.4(TMCO1):c.340C>T (p.Arg114Ter)	TMCO1	Jun 20, 2016	MedGen:CN517202	not provided	germline	1	165759546	AAGAAGGAAACAATAACAGAGTCAGCTGGTCGACAACAGAAAAAGAAAATAGGTAAGATGA
387907314	45879	NM_006343.2(MERTK):c.2323C>T (p.Arg775Ter)	MERTK	Jul 01, 2012	MedGen:C3151228,OMIM:613862	Retinitis pigmentosa 38	germline	2	112021555	AAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTCTACACAAGTAAAAGTGATGTGGTAT
63749827	95821	NM_000249.3(MLH1):c.76C>T (p.Gln26Ter)	MLH1	Apr 12, 2017	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	3	36993623	GTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGA
-1	453855	NM_000297.3(PKD2):c.1774C>T (p.Arg592Ter)	PKD2	Feb 14, 2017	MedGen:CN119611	Polycystic kidney disease, autosomal dominant	germline	4	88056143	ACCATGAGCCAGCTCTCGACAACCATGTCTCGATGTGCCAAAGACCTGTTTGGCTTTGCTA
794726697	187802	NM_001165963.1(SCN1A):c.2593C>T (p.Arg865Ter)	SCN1A	Feb 06, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	germline;paternal	2	166038129	AATATATATTAATCTTTCATTTTCCAGCTGCGAGTTTTCAAGTTGGCAAAATCTTGGCCAA
119470017	19005	NM_000356.3(TCOF1):c.2731C>T (p.Arg911Ter)	TCOF1	Jul 15, 2004	MedGen:CN119605,OMIM:154500	Treacher Collins syndrome 1	germline	5	150388004	GCCCAGGCTGCAAGCACCCCGAGGAAGGCCCGAGCCTCGGAGAGCACAGCCAGGAGCTCCT
128624220	26340	NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp)	ABCD1	May 15, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002;MedGen:CN517202	Adrenoleukodystrophy;not provided	germline	X	153736372	CAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAG
1131692297	424533	NM_000280.4(PAX6):c.265C>T (p.Gln89Ter)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo;paternal	11	31801653	GCGACTCCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCATCTTTG
387907131	40140	NM_001044385.2(TMEM237):c.76C>T (p.Gln26Ter)	TMEM237	Feb 23, 2015	MedGen:C3280766,OMIM:614424	Joubert syndrome 14	germline;unknown	2	201640264	AATTTGTTTGGTGTTATATGACGTGTTAGTCAAGGTGAGTTAGTTTAATGTAAATATAATA
1131691674	421703	NM_000118.3(ENG):c.526C>T (p.Gln176Ter)	ENG	May 17, 2017	MedGen:CN517202	not provided	germline	9	127825858	AGGGACTGAGGTGCGCGTGTCTCTGCAGCCCAGGGGTCACTGTCCTTCTGCATGCTGGAAG
587777653	153777	NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter)	C2CD3	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C4014780,OMIM:615948,Orphanet:ORPHA434179	Joubert syndrome;Orofaciodigital syndrome xiv	germline;unknown	11	74168485	ATTGCAAAGCCTCCCACTTGTGTACTTGTCCGAGTGAGATGGTGGGGAGAAACATCAGATG
1057518650	361256	NM_153252.4(BRWD3):c.568C>T (p.Arg190Ter)	BRWD3	Feb 17, 2015	MedGen:C1970841,OMIM:300659	Mental retardation, X-linked 93	de novo	X	80745592	TTGTCATCTGTCTACTGTGTAGCATTTGACCGAAGCGGGAGAAGAATTTTTACAGTGAGTG
869312712	225886	NM_020732.3(ARID1B):c.2242C>T (p.Gln748Ter)	ARID1B	Jan 14, 2016	MedGen:CN029606,OMIM:135900	Coffin-Siris syndrome 1	de novo	6	157084866	TCTCCTGTTGGCTCTCCTGTAGGAAGCAACCAGTCTCGATCTGGCCCAATCTCTCCTGCAA
267606875	18588	NM_016247.3(IMPG2):c.2890C>T (p.Arg964Ter)	IMPG2	Aug 13, 2010	MedGen:C3150819,OMIM:613581	Retinitis pigmentosa 56	germline	3	101242820	TTCAGAAATGGCAGCATTGTGGTGAACAGTCGAATGAAGTTTGCCAATTCTGTCCCTCCTA
398124225	101283	NM_006363.5(SEC23B):c.1571C>T (p.Ala524Val)	SEC23B	Nov 18, 2013	MedGen:CN517202	not provided	germline	20	18543078	ACATAGAAGCAGCATTTGACCAGGAGGCTGCGGCAGTGTTGATGGCACGGCTTGGGGTGTT
121908738	17003	NM_000022.3(ADA):c.821C>T (p.Pro274Leu)	ADA	Aug 01, 1990	MedGen:C1863239;MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Partial adenosine deaminase deficiency;Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44622612	GGTCCAGCTACCTCACTGGTGCCTGGAAGCCGGACACGGAGCATGCAGTCATTCGGTGAGC
775036118	475938	NM_000051.3(ATM):c.5692C>T (p.Arg1898Ter)	ATM	Apr 10, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108307914	TTTTGTTTGTCAGAGTCAGAGCACTTTTTCCGATGCTGTTTGGATAAAAAATCACAAAGAA
75399846	166076	NM_000278.4(PAX2):c.706C>T (p.Gln236Ter)	PAX2	Mar 01, 2012	MedGen:C1852759,OMIM:120330,Orphanet:ORPHA1475,SNOMED CT:446449009;MedGen:CN517202	Renal coloboma syndrome;not provided	germline;unknown	10	100806519	AAGCACTTGCGAGCTGACACCTTCACCCAGCAGCAGCTGGAAGCTTTGGATCGGGTCTTTG
879254408	245376	NM_000527.4(LDLR):c.103C>T (p.Gln35Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100258	GACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGG
104893630	23193	NM_080916.2(DGUOK):c.313C>T (p.Arg105Ter)	DGUOK	Aug 01, 2002	MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	germline	2	73946776	TTGCTGGATATGATGTACCGGGAGCCAGCACGATGGTCCTACACATTCCAGACATTTTCCT
104893906	24055	NM_004387.3(NKX2-5):c.568C>T (p.Arg190Cys)	NKX2-5	May 15, 2005	MedGen:C1862388,OMIM:108900	Atrial septal defect 7 with or without atrioventricular conduction defects	germline	5	173232976	ACGCAGGTCAAGATCTGGTTCCAGAACCGGCGCTACAAGTGCAAGCGGCAGCGGCAGGACC
201286421	50215	NM_003001.3(SDHC):c.43C>T (p.Arg15Ter)	SDHC	Sep 25, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854336,OMIM:605373;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 3;not provided	germline	1	161323636	TCTTGCAGACACGTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCTCAGCTCTGTATCA
387907216	44161	NM_017636.3(TRPM4):c.490C>T (p.Arg164Trp)	TRPM4	Aug 01, 2010	Gene:8184,MedGen:C1970298,OMIM:604559	Progressive familial heart block type 1B	germline	19	49168301	GTCACTGGGGGTCTGCACACGGGCATCGGCCGGCATGTTGGTGTGGCTGTACGGGACCATC
199476094	23235	NM_001009944.2(PKD1):c.12124C>T (p.Gln4042Ter)	PKD1	Aug 01, 1995	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	Polycystic kidney disease, adult type	germline	16	2090688	GGCCTGGTGGTGCTCGGGGTAGCCTACGCCCAGCTGGCCATCCTGGTAGGTGACTGCGCGG
104894471	17089	NM_152443.2(RDH12):c.184C>T (p.Arg62Ter)	RDH12	Oct 01, 2004	MedGen:C2675186,OMIM:612712	Leber congenital amaurosis 13	germline	14	67724588	GGCAAGGAGACGGCCAGAGAGCTCGCTAGCCGAGGTAAGTGTTTCCCCTTTAGTCTCCAAA
199473556	78702	NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp)	SCN5A	May 24, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144;MedGen:CN517202	Brugada syndrome;Brugada syndrome 1;not provided	germline;unknown	3	38630342	TTGTATGTCCTCAGTCCCTTCCACCCCATCCGGAGAGCGGCTGTGAAGATTCTGGTTCACT
104894912	25542	NM_020061.5(OPN1LW):c.739C>T (p.Arg247Ter)	OPN1LW	Nov 01, 1993	Human Phenotype Ontology:HP:0007939,MedGen:C0339537,OMIM:303700,Orphanet:ORPHA16,SNOMED CT:24704003	Cone monochromatism	germline	X	154154734	CTCTGCTACCTCCAAGTGTGGCTGGCCATCCGAGCGGTAAGCCCCCCGATTCCTCCTGGCC
1064794957	409927	NM_139276.2(STAT3):c.2144C>T (p.Pro715Leu)	STAT3	Apr 11, 2017	MedGen:CN517202	not provided	germline	17	42317182	ACCTGAAGACCAAGTTTATCTGTGTGACACCGTAAGTGGCTTCCTTTCCCCGTTTTGCCTT
132630305	26098	NM_000252.2(MTM1):c.721C>T (p.Arg241Cys)	MTM1	May 26, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150645725	ATTCATCCAGAAAATAAGACGGTCATTGTGCGTTGCAGTCAGCCTCTTGTCGGTATGAGTG
879253889	244244	NM_001012331.1(NTRK1):c.526C>T (p.Gln176Ter)	NTRK1	Feb 24, 2017	MedGen:CN517202	not provided	germline	1	156868201	GGACTGGGCGGAGTGCCTGAACAGAAGCTGCAGTGTCATGGGCAAGGGCCCCTGGCCCACA
121917901	16740	NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter)	ERCC6	Jun 02, 2017	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:C0265201,OMIM:278800,SNOMED CT:414673004;MedGen:CN239385;MedGen:CN517202	Cockayne syndrome B;DE SANCTIS-CACCHIONE SYNDROME;ERCC6-Related Disorders;not provided	germline	10	49478437	AAAACTGCTTACAAGTGTGCATGTGTCTTACGAGATACCATAAATCCATACCTACTGCGGA
483353046	139373	NM_000079.3(CHRNA1):c.737C>T (p.Ser246Phe)	CHRNA1	Jun 15, 1999	MedGen:C0751885,OMIM:601462	Myasthenic syndrome, slow-channel congenital	germline	2	174753544	TCAACGTCATCATCCCCTGCCTGCTCTTCTCCTTCTTAACTGGCCTGGTATTCTACCTGCC
104894390	31678	NM_000115.4(EDNRB):c.757C>T (p.Arg253Ter)	EDNRB	Nov 05, 1999	MedGen:C1848519,OMIM:277580	Waardenburg syndrome type 4A	germline	13	77903200	ATTACGATGGACTACAAAGGAAGTTATCTGCGAATCTGCTTGCTTCATCCCGTTCAGAAGA
769737896	228156	NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter)	LDLR	Aug 25, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;inherited	19	11110759	TGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGAC
104893778	28068	NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)	RHO	Oct 01, 1994	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129533701	TCTGCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGA
137854497	24535	NM_005502.3(ABCA1):c.4517C>T (p.Ser1506Leu)	ABCA1	Jul 27, 2001	MedGen:C0039292,OMIM:205400,Orphanet:ORPHA31150	Tangier disease	germline	9	104804668	TCCTTCAGGACCTGACAGGAAGAAACATTTCGGATTATCTGGTGAAGACGTATGTGCAGAT
886044824	268481	NM_001110556.1(FLNA):c.5278C>T (p.Gln1760Ter)	FLNA	Nov 05, 2015	Gene:8268,MedGen:C1848221,OMIM:300048;MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Intestinal pseudoobstruction neuronal chronic idiopathic X-linked;Periventricular nodular heterotopia 1	germline	X	154354651	CCCCCTCTACGGTCTCAGCAGCTGGCCCCACAGTACACCTACGCCCAGGGCGGCCAGCAGA
1060501456	394730	NM_001369.2(DNAH5):c.12265C>T (p.Gln4089Ter)	DNAH5	Jul 31, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13721014	CAGGAAGTCCATGCTCGGAAGCTCTTGCAGCAGACCATGGCGAACGTAAGGCTGAATAGTC
111033800	18649	NM_000155.3(GALT):c.997C>T (p.Arg333Trp)	GALT	May 18, 2017	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline;unknown	9	34649502	TACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTG
772989270	214243	NM_001134831.1(AHI1):c.2012C>T (p.Thr671Ile)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135438399	CCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGTTAGT
80359115	67294	NM_000059.3(BRCA2):c.8575C>T (p.Gln2859Ter)	BRCA2	Aug 02, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32371043	AAGGAAGCAGCAAAATATGTGGAGGCCCAACAAAAGAGACTAGAAGCCTTATTCACTAAAA
199476186	47866	NM_207352.3(CYP4V2):c.253C>T (p.Arg85Cys)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186194538	CAGCAGATCATTGAGTACACAGAGGAATACCGCCACATGCCGCTGCTGAAGCTCTGGGTCG
797044863	205350	NM_018684.3(ZC4H2):c.148C>T (p.Gln50Ter)	ZC4H2	-	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	X	64921894	TCAGAGGAAAGGCACCTGAAGGAATACAAGCAGGAGATGGACCTTCTGCTACAGGAGAAGA
121908498	20806	NM_004211.4(SLC6A5):c.1274C>T (p.Thr425Met)	SLC6A5	Oct 04, 2012	MedGen:C3553288,OMIM:614618	Hyperekplexia 3	germline	11	20626721	GCCCATGGCTTTTCTAGGTGGTGTACTTCACGGCCACGTTCCCGTATGTCGTACTCGTGAT
876658571	232436	NM_000465.3(BARD1):c.277C>T (p.Gln93Ter)	BARD1	Feb 23, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214792384	TGTCCAGTGTGTTACACCCCGGCCTGGATACAAGACTTGAAGATAAATAGACAACTGGACA
63749885	33169	NM_000021.3(PSEN1):c.487C>T (p.His163Tyr)	PSEN1	Oct 01, 1995	MedGen:C1843013,OMIM:607822;MedGen:CN517202	Alzheimer disease, type 3;not provided	germline	14	73186859	ATATTGAAATGCTTTCTTTTCTAGGTCATCCATGCCTGGCTTATTATATCATCTCTATTGT
770485731	464162	NM_000153.3(GALC):c.1186C>T (p.Arg396Trp)	GALC	May 08, 2017	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005	Galactosylceramide beta-galactosidase deficiency	germline	14	87950724	TTTCAGAGTCATAAACATTCTAAGTGCATACGGCCATTTCTTCCTTATTTCAATGTGTCAC
886042033	264994	NM_144997.5(FLCN):c.1504C>T (p.Gln502Ter)	FLCN	Oct 17, 2016	MedGen:CN517202	not provided	germline	17	17215019	AACCAGAACCTGTCTGTGGATGTGGTGGACCAGTGCCTCGTCTGCCTCAAGGAGGAGTGGA
398123151	98334	NM_000071.2(CBS):c.1006C>T (p.Arg336Cys)	CBS	Mar 16, 2017	MedGen:C3150344,OMIM:236200;MedGen:CN517202	Homocystinuria due to CBS deficiency;not provided	germline;unknown	21	43062344	AGCAACGATGAGGAGGCGTTCACCTTTGCCCGCATGCTGATCGCGCAAGAGGGGCTGCTGT
-1	481475	NM_145207.2(SPATA5):c.394C>T (p.Gln132Ter)	SPATA5	Sep 08, 2017	MedGen:C4225276,OMIM:616577,Orphanet:ORPHA457351	Epilepsy, hearing loss, and mental retardation syndrome	maternal	4	122929145	GGTGTGAGGCCTGGTGATGCCATCCAGGTCCAGCCTCTTGTGGGTGCTGTGCTACAGGCTG
397514573	48342	NM_005881.3(BCKDK):c.466C>T (p.Arg156Ter)	BCKDK	Oct 19, 2012	MedGen:C3554078,OMIM:614923,Orphanet:ORPHA308410	Branched-chain keto acid dehydrogenase kinase deficiency	germline	16	31110247	GCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGATGTGG
28939084	19984	NM_024022.2(TMPRSS3):c.1211C>T (p.Pro404Leu)	TMPRSS3	Oct 01, 2005	MedGen:C1832827,OMIM:601072,OMIM:605316	Deafness, autosomal recessive 8	germline	21	42375852	TTCCTGTCACCCAGGGGGACAGCGGGGGGCCCCTGGTGTGTCAAGAGAGGAGGCTGTGGAA
727503780	172321	NM_006726.4(LRBA):c.2032C>T (p.Gln678Ter)	LRBA	Jan 27, 2015	MedGen:C3553512,OMIM:614700,Orphanet:ORPHA445018	Common variable immunodeficiency 8, with autoimmunity	germline	4	150896429	AAGGATTCTGGAGTAAAGGAAGATGAATTACAGGCCATTCTTAATTACCTACTGACTATGC
-1	479071	NM_000267.3(NF1):c.7699C>T (p.Gln2567Ter)	NF1	Aug 22, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31356983	GCTGCAGAAACTCAGAGGATTTCCTCATCACAACAGCACCCACATTTACGTAAAGTTTCAG
137852748	23844	NM_001204.6(BMPR2):c.2617C>T (p.Arg873Ter)	BMPR2	Sep 01, 2000	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202556282	AGTCCTGATGAGCATGAGCCTTTACTGAGACGAGAGCAACAAGCTGGCCATGATGAAGGTG
122456135	26656	NM_005183.3(CACNA1F):c.2683C>T (p.Arg895Ter)	CACNA1F	Jul 01, 1998	MedGen:C1848172,OMIM:300071	Congenital stationary night blindness, type 2A	germline	X	49219344	AGTGTGTCCCTGGCCGCTGAGGACCCCATCCGAGCCCACTCCTTCCGCAACCATGTGAGCC
281865489	47585	NM_004614.4(TK2):c.268C>T (p.Arg90Cys)	TK2	Jul 18, 2017	MedGen:C3149750,OMIM:609560;MedGen:CN517202	Mitochondrial DNA depletion syndrome 2;not provided	germline	16	66536981	ACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGT
137852979	19511	NM_177438.2(DICER1):c.1630C>T (p.Arg544Ter)	DICER1	May 08, 2017	MedGen:CN072455,OMIM:601200;Human Phenotype Ontology:HP:0100528,MedGen:C1266144,Orphanet:ORPHA64742	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Pleuropulmonary blastoma	germline	14	95116575	GTGGTTCGTTTTGATTTGCCCACAGAATATCGATCCTATGTTCAATCTAAAGGAAGAGCAA
755584106	358212	NM_000053.3(ATP7B):c.4114C>T (p.Gln1372Ter)	ATP7B	Jul 22, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	unknown	13	51935603	TCCTCTGTGTCTGTGGTGCTCTCATCCCTGCAGCTCAAGTGGTGAGTCCCCTCAGGTGGAG
397515610	76722	NM_194248.2(OTOF):c.709C>T (p.Arg237Ter)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26502301	ACAGCTCTCACCACTAATGTCTCCAACAAGCGGTGAGTGGACGGGAGCCCTGCAACCCCAG
199469635	39479	NM_017415.2(KLHL3):c.1582C>T (p.Arg528Cys)	KLHL3	Mar 11, 2012	MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism type 2D;Pseudohypoaldosteronism, type 2	germline	5	137628306	AAGCAAGTGGCAGACATGAACATGTGCCGGCGCAACGCAGGTAATGACTGCTCTCTCCATC
1057518571	359967	NM_003482.3(KMT2D):c.7411C>T (p.Arg2471Ter)	KMT2D	Nov 28, 2016	MedGen:CN517202	not provided	germline	12	49040359	GACCCATTTGCCCCATTGCATAAGCCACCCCGACCCCAGCCCCCTGAAGTTGCCTTTAAGG
-1	432032	NM_003000.2(SDHB):c.490C>T (p.Gln164Ter)	SDHB	-	MedGen:C1708353,Orphanet:ORPHA29072	Hereditary Paraganglioma-Pheochromocytoma Syndromes	germline	1	17027799	GAGCCTTATTTGAAGAAGAAGGATGAATCTCAGGAAGGCAAGCAGCAGTATCTGCAGTCCA
863225210	214362	NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser)	MKS1	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	17	58207906	CGTGTGGAAGGCTATGGGGCTGTGGTGCTGCCTGCCACTCCAGGTAACCGCTCGTCTCTGC
886042376	266538	NM_014780.4(CUL7):c.2164C>T (p.Arg722Ter)	CUL7	Sep 09, 2015	MedGen:C1848862,OMIM:273750	Three M syndrome 1	germline	6	43048153	ATGGCCTGCCTGCGGTCCCCAAACACTGATCGAGAGGTACCCCTGCCCTGCTCTGGGGAGA
864622138	222459	NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter)	PALB2	Jul 16, 2015	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	16	23607943	GAGAGTGAGTCGTTGCGAAGCCCTGTGTTTCAGCTCATTGTGATTAACCCTAAGACGACTC
104894060	17843	NM_018941.3(CLN8):c.610C>T (p.Arg204Cys)	CLN8	Aug 14, 2012	MedGen:C1838570,OMIM:600143,Orphanet:ORPHA228354	Ceroid lipofuscinosis neuronal 8	germline;unknown	8	1780316	CAGTGGCTGATGATTCACATGTTTCACTGCCGCATGGTTCTAACCTACCACATGTGGTGGG
72552255	44374	NM_000053.3(ATP7B):c.2930C>T (p.Thr977Met)	ATP7B	May 25, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51946414	TCATCCGGTTTGCTTTCCAGACGTCCATCACGGTGCTGTGCATTGCCTGCCCCTGCTCCCT
28933668	25244	NM_000132.3(F8):c.1175C>T (p.Ser392Leu)	F8	Apr 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154966522	ACAACTCTCCTTCCTTTATCCAAATTCGCTCAGTTGCCAAGAAGCATCCTAAAACTTGGGT
-1	247417	NM_032957.4(RTEL1):c.2077C>T (p.Gln693Ter)	RTEL1	May 01, 2015	MedGen:C4225346,OMIM:616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	germline	20	63689628	AAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACA
143040492	485854	NM_000044.4(AR):c.2612C>T (p.Ala871Val)	AR	Sep 05, 2003	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67723690	TTTCTCCCTCTTATTGTTCCCTACAGATTGCGAGAGAGCTGCATCAGTTCACTTTTGACCT
587782529	152250	NM_000546.5(TP53):c.1009C>T (p.Arg337Cys)	TP53	Sep 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome	germline	17	7670700	CCTCTGTTGCTGCAGATCCGTGGGCGTGAGCGCTTCGAGATGTTCCGAGAGCTGAATGAGG
119469014	18674	NM_000250.1(MPO):c.1495C>T (p.Arg499Cys)	MPO	Sep 21, 2007	MedGen:C0398595,OMIM:254600,Orphanet:ORPHA2587,SNOMED CT:129644003,SNOMED CT:234433009	Myeloperoxidase deficiency	germline	17	58273540	CGCATCGCCAACGTCTTCACCAATGCCTTCCGCTACGGCCACACCCTCATCCAACCCTTCA
863223331	181583	NM_023110.2(FGFR1):c.565C>T (p.Arg189Cys)	FGFR1	-	MedGen:C1563720,OMIM:147950	Kallmann syndrome 2	unknown	8	38427977	CCTTCCAGTGGGACCCCAAACCCCACACTGCGCTGGTTGAAAAATGGCAAAGAATTCAAAC
121908478	20857	NM_139025.4(ADAMTS13):c.749C>T (p.Ala250Val)	ADAMTS13	Oct 01, 2004	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133428696	GCGGCTGCGGCCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCCGCGCCGGCCT
63750097	96708	NM_000251.2(MSH2):c.862C>T (p.Gln288Ter)	MSH2	Jul 31, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	2	47414338	GAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCC
771939280	481769	NM_012123.3(MTO1):c.1462C>T (p.Arg488Ter)	MTO1	May 19, 2017	MedGen:CN517202	not provided	germline	6	73482241	CCTGATAATGCTGACAGCCGGCTCACACTGCGAGGTAACTCTTTCCTGAGTCCTGCAATCC
755750961	428320	NM_025074.6(FRAS1):c.2719C>T (p.Gln907Ter)	FRAS1	Jul 13, 2016	MedGen:C0265233,OMIM:219000,SNOMED CT:204102004	Cryptophthalmos syndrome	germline	4	78364051	GGGCACTATCTTGATGACAATCATGTTTGCCAGCGTAGGTTTTTCCAATGAACCTTCTCTC
-1	439840	NM_014806.4(RUSC2):c.2596C>T (p.Arg866Ter)	RUSC2	Nov 27, 2017	MedGen:CN651335,OMIM:617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	germline	9	35555641	CCTCTGGGCTCCTGGCGATCTGGCCTCAGCCGAGCAGAGAGCCTGGCCCGGGGAGGTGGTG
151344629	103801	NM_001243133.1(NLRP3):c.1043C>T (p.Thr348Met)	NLRP3	Apr 20, 2017	MedGen:C2316212,Orphanet:ORPHA208650,SNOMED CT:430079001;MedGen:C0268390,OMIM:191900,Orphanet:ORPHA575,SNOMED CT:15123008;MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000;MedGen:CN517202;MedGen:CN169374	Cryopyrin associated periodic syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not provided;not specified	germline	1	247424492	TGCTTCCCGAGGCCTCTCTGCTCATCACCACGAGACCTGTGGCCCTGGAGAAACTGCAGCA
370803545	342838	NM_000528.3(MAN2B1):c.418C>T (p.Arg140Ter)	MAN2B1	Sep 12, 2016	MedGen:C0024748,OMIM:248500,Orphanet:ORPHA61,SNOMED CT:124466001	Deficiency of alpha-mannosidase	germline;unknown	19	12665370	CAGCAGACAAATGCCACACAGGAAGTCGTGCGAGACCTTGTGCGCCAGGGTGAGCCTACCC
863223478	210054	NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter)	COL5A1	Jan 09, 2015	MedGen:CN517202	not provided	germline	9	134795115	ACCCCTGGAAAGCCAGGACCGCGGGGGCAGCGAGGCCCAACGGTAACCACCCTTTCAGCTT
121434547	32656	NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu)	CAPN3	Jan 14, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42392649	CTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGG
386834113	71333	NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter)	VPS13B	Oct 25, 2017	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline;unknown	8	99818529	ACTTTAGAACCCAACTCTCAAGTGCAACAACGAATGGTGAGTGCTTTCCCAATCCTAAAAT
80358367	105809	NM_133433.3(NIPBL):c.133C>T (p.Arg45Ter)	NIPBL	Apr 15, 2015	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36955540	ACAACTACAAAGAGCCTTCTCTTTAATGCACGAATAGCAGAAGAGGTGAACTGCCTTTTGG
587777561	150332	NM_031229.3(RBCK1):c.790C>T (p.Gln264Ter)	RBCK1	Jan 01, 2013	MedGen:C4014605,OMIM:615895,Orphanet:ORPHA397937	Polyglucosan body myopathy 1 with or without immunodeficiency	germline	20	420904	AAGCAGCAGCAGCAGGAGGGGAACTACCTGCAGCACGTCCAGCTGGACCAGAGGAGCCTGG
796051850	16064	NM_020223.3(FAM20C):c.1645C>T (p.Arg549Trp)	FAM20C	Nov 01, 2007	MedGen:C1850106,OMIM:259775,Orphanet:ORPHA1832	Raine syndrome	germline	7	259870	TACCAGCCGCACCTGGAGGCCCTGGACCGGCGGCTCCGCGTCGTGCTAAAGGCCGTCCGGG
121918376	481324	NM_006907.3(PYCR1):c.355C>T (p.Arg119Cys)	PYCR1	Jul 28, 2017	MedGen:C2751987,OMIM:612940,Orphanet:ORPHA357064	Autosomal recessive cutis laxa type 2B	germline	17	81935111	TCAGCGTTTCGGCCAGCCCCCAGGGTCATCCGCTGCATGACCAACACTCCAGTCGTGGTGC
121918216	16088	NM_015311.2(OBSL1):c.1465C>T (p.Arg489Ter)	OBSL1	Jun 01, 2009	MedGen:C2752041,OMIM:612921	Three M syndrome 2	germline	2	219567787	ATGCATGCCCTGGTCCTTCCAGGGGTCACCCGAGAGGATGCTGGCGAGGTCACCTTTAGCC
80357067	69840	NM_007294.3(BRCA1):c.4339C>T (p.Gln1447Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43082422	TCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGGTGTGTATTGTT
761860059	265187	NM_000487.5(ARSA):c.346C>T (p.Arg116Ter)	ARSA	Jan 19, 2016	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	germline	22	50627285	GAGGTGACCGTGGCCGAAGTCCTGGCTGCCCGAGGCTACCTCACAGGAATGGCCGGCAAGT
397515620	79337	NM_005745.7(BCAP31):c.97C>T (p.Gln33Ter)	BCAP31	Sep 05, 2013	Gene:100302680,MedGen:C1845408,OMIM:300475,Orphanet:ORPHA369942	Chromosome Xq28 deletion syndrome	germline	X	153720968	TCCTGTCCTTTTTGTCTTCTTCACAGATGGCAGAAGATTTTCAAGTCCCGGCTGGTGGAGT
750528020	456043	NM_001010892.2(RSPH4A):c.1351C>T (p.Gln451Ter)	RSPH4A	Apr 13, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	6	116628058	TGGGTGAAGTTACCACCAGTTATACCTGCACAAATTGTTATTGCAAGAAAAATCAAGAAAT
121908073	19142	NM_138691.2(TMC1):c.100C>T (p.Arg34Ter)	TMC1	Jun 04, 2016	MedGen:C1832978,OMIM:600974;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 7;Nonsyndromic hearing loss and deafness	germline	9	72694578	GAGGAAGAGGAGGTGGAAGATAAGCTACCTCGAAGAGAGAGCTTGAGACCAAAGAGGAAAC
387907133	40146	NM_016464.4(TMEM138):c.380C>T (p.Ala127Val)	TMEM138	Feb 23, 2015	MedGen:C3280906,OMIM:614465	Joubert syndrome 16	germline;unknown	11	61368600	GGCTTCTCTTCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGAC
797044854	205263	NM_006624.5(ZMYND11):c.1798C>T (p.Arg600Trp)	ZMYND11	Apr 21, 2017	MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Inborn genetic diseases;not provided	germline	10	252459	TGGCACGCGGAGCACAAGCGCACCTGCCGCCGGAAAAGATGAAGCTGGCCCTTCCCGGAGT
768050261	29096	NM_007103.3(NDUFV1):c.175C>T (p.Arg59Ter)	NDUFV1	Aug 28, 2015	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline	11	67608571	ATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCC
-1	454270	NM_000038.5(APC):c.832C>T (p.Gln278Ter)	APC	Jun 08, 2017	MedGen:C2713442,OMIM:175100;MedGen:CN517202	Familial adenomatous polyposis 1;not provided	germline;unknown	5	112801381	GAAATCAACATGGCAACTTCTGGTAATGGTCAGGTAAATAAATTATTTTATCATATTTTTT
1047016803	375227	NM_005682.6(ADGRG1):c.367C>T (p.Gln123Ter)	ADGRG1	Jan 23, 2017	MedGen:CN517202	not provided	germline	16	57651502	AGTGACAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCAGGGCC
776256380	269993	NM_000390.3(CHM):c.715C>T (p.Arg239Ter)	CHM	Jan 08, 2016	Human Phenotype Ontology:HP:0001139,MedGen:C0008525,OMIM:303100,Orphanet:ORPHA180,SNOMED CT:75241009	Choroideremia	germline	X	85958965	AATATTTTCTTTGTACAGCTGCTGTATTCTCGAGGATTACTAATTGATCTTCTAATCAAAT
104893915	19128	NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp)	SLC26A2	Apr 05, 2017	MedGen:C1850554,OMIM:256050,Orphanet:ORPHA56304;MedGen:C0220726,OMIM:222600,Orphanet:ORPHA628,SNOMED CT:58561002;MedGen:C1847593,OMIM:226900,Orphanet:ORPHA93307;MedGen:C0029422;MedGen:CN239404;MedGen:CN517202	Atelosteogenesis type 2;Diastrophic dysplasia;Multiple epiphyseal dysplasia 4;Osteochondrodysplasia;SLC26A2-Related Disorders;not provided	germline;unknown	5	149980428	GCCAAGTATCTTCTTGGGCTCAACCTTCCTCGGACTAATGGTGTGGGCTCACTCATCACTA
879253852	224618	NM_000255.3(MUT):c.2200C>T (p.Gln734Ter)	MUT	Sep 08, 2016	MedGen:C1855114,OMIM:251000;MedGen:CN517202	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	germline	6	49431781	CCTGGGACTCGAATTCCAAAGGCTGCCGTTCAGGTGCTTGATGATATTGAGAAGTGTTTGG
78396650	19355	NM_001005741.2(GBA):c.1043C>T (p.Ala348Val)	GBA	Jul 01, 1990	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155236426	CAGAAGCAGCTAAATATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTCTGGCTCC
137852919	18439	NM_015102.4(NPHP4):c.2377C>T (p.Gln793Ter)	NPHP4	Oct 01, 2002	MedGen:C1847013,OMIM:606966	Nephronophthisis 4	germline	1	5887394	GAGCTTGAGGTCGTGGCAACTGAATACGAGCAGGACAACATGGTGGTGAGTGGAGACATGC
397517994	57611	NM_206933.2(USH2A):c.14911C>T (p.Arg4971Ter)	USH2A	Sep 11, 2012	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215640615	CTGAAGGAGTACGTGTTAACCGACGGAGGGCGACGCGTGTACAGCGGCTTGGACACCACCC
-1	484243	NM_002485.4(NBN):c.574C>T (p.Gln192Ter)	NBN	Aug 20, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	8	89978230	AAAGCAGTTGAGTCCAAGAAGCAGCCTCCACAAATTGAAAGGTATATTATGTATTTTAAAT
121912745	32803	NM_000342.3(SLC4A1):c.1765C>T (p.Arg589Cys)	SLC4A1	Oct 01, 1997	MedGen:C0259810,OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	germline	17	44255708	GCCGGTACCTTCTTCTTTGCCATGATGCTGCGCAAGTTCAAGAACAGCTCCTATTTCCCTG
80357208	69682	NM_007294.3(BRCA1):c.3817C>T (p.Gln1273Ter)	BRCA1	Jul 29, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43091714	TTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAAC
61749380	15350	NM_000552.4(VWF):c.3854C>T (p.Ser1285Phe)	VWF	Feb 01, 2003	MedGen:CN517202;MedGen:C1282974,Orphanet:ORPHA166090,SNOMED CT:359729006	not provided;von Willebrand disease type 2M	germline	12	6019564	TACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGT
-1	481972	NM_004523.3(KIF11):c.139C>T (p.Arg47Ter)	KIF11	Dec 20, 2017	MedGen:CN517202	not provided	germline	10	92606326	GCCCATTCAATAGTAGAATGTGATCCTGTACGAAAAGAAGTTAGTGTACGAACTGGAGGAT
104886478	65618	NM_080871.3(ASB10):c.765C>T (p.Thr255=)	ASB10	Mar 15, 2012	MedGen:C1863926,OMIM:603383	Glaucoma 1, open angle, F	germline;somatic	7	151181233	CCAGTCCATCACCGATGCCGAGGCCACCACCGCCCGCTGCCTGCAGCTGTGCAGCTTGCTG
910956017	368927	NM_033071.3(SYNE1):c.18469C>T (p.Gln6157Ter)	SYNE1	Apr 20, 2015	MedGen:CN517202	not provided	germline	6	152269178	CAAGCTCGCACCACATGGACCCAGCAGCGGCAGAGCAGTCTCCAGCAACAAAAAGTAAAGT
121907943	19073	NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)	GAA	Feb 18, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002;MedGen:CN517202	Glycogen storage disease, type II;not provided	germline;unknown	17	80118271	GCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGA
28933684	25723	NM_000266.3(NDP):c.370C>T (p.Leu124Phe)	NDP	Oct 01, 1993	MedGen:C1844579,OMIM:305390	Familial exudative vitreoretinopathy, X-linked	germline	X	43949831	ATGCGACTCACTGCCACCTACCGGTACATCCTCTCCTGTCACTGCGAGGAATGCAATTCCT
104894831	25758	NM_000169.2(GLA):c.118C>T (p.Pro40Ser)	GLA	Jan 01, 1990	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101407786	AGAGCACTGGACAATGGATTGGCAAGGACGCCTACCATGGGCTGGCTGCACTGGGAGCGCT
121908897	21446	NM_001457.3(FLNB):c.6010C>T (p.Arg2004Ter)	FLNB	Mar 15, 2008	MedGen:C1848934,OMIM:272460,Orphanet:ORPHA3275	Spondylocarpotarsal synostosis syndrome	germline	3	58148771	GTGGTCCAGTCGGAGATTGGTGACGCCCGCCGAGCCAAAGTCTATGGCCGCGGCCTGTCAG
886041433	265167	NM_001111125.2(IQSEC2):c.2272C>T (p.Arg758Ter)	IQSEC2	Dec 18, 2015	MedGen:CN517202	not provided	germline	X	53250304	AACAATGATGTGGTCCAGAGGCGGCACTACCGAATCGGCCTCAACCTCTTCAACAAGTGCG
111033180	52334	NM_000260.3(MYO7A):c.1900C>T (p.Arg634Ter)	MYO7A	Oct 28, 2006	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77172850	ACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGC
199469641	39474	NM_017415.2(KLHL3):c.1229C>T (p.Ser410Leu)	KLHL3	Mar 11, 2012	MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism type 2D;Pseudohypoaldosteronism, type 2	germline	5	137637386	CATGAGTCTCTTGTCTCCCAGGCCTAGCATCGGTGGAAGCCTACAGCTACAAGACCAACGA
587779479	106919	NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006236	GGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAAT
63750781	32133	NM_000249.3(MLH1):c.350C>T (p.Thr117Met)	MLH1	Nov 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;Lynch syndrome II;not provided	germline;unknown	3	37004444	TAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAG
121434599	28784	NM_000316.2(PTH1R):c.395C>T (p.Pro132Leu)	PTH1R	Sep 01, 1998	MedGen:C1859148,OMIM:215045,Orphanet:ORPHA50945	Chondrodysplasia Blomstrand type	germline	3	46897936	CACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGG
587782613	152362	NM_000059.3(BRCA2):c.3412C>T (p.Gln1138Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32337767	ACTCAGTTTAGAAAACCAAGCTACATATTGCAGAAGAGTACATTTGAAGTGCCTGAAAACC
760270633	264472	NM_004408.3(DNM1):c.709C>T (p.Arg237Trp)	DNM1	Nov 02, 2017	MedGen:C4225357,OMIM:616346;MedGen:CN517202	Epileptic encephalopathy, early infantile, 31;not provided	germline	9	128220201	CTGTTCACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAAGAAGG
863225065	196443	NM_003159.2(CDKL5):c.1897C>T (p.Gln633Ter)	CDKL5	Feb 13, 2015	MedGen:CN517202	not provided	germline	X	18604821	AAGGGCTTGGATGGAAGCTTGAGCATAGGGCAAGGGATGGCAGCTAGAGCCAACAGCCTGC
-1	481432	NM_001002755.2(NFU1):c.544C>T (p.Arg182Trp)	NFU1	Dec 07, 2017	Gene:80767,MedGen:C3276432,OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	germline	2	69406023	ATGATTAAGGAATTGTTAGATACTAGAATACGGTACGTGCTCCTCTCTCTACCTGAATTCA
121965068	26938	NM_000128.3(F11):c.1289C>T (p.Ala430Val)	F11	Dec 01, 1999	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	germline	4	186284245	TCATTGGAAACCAGTGGATATTAACAGCCGCTCACTGTTTCTATGGGTCAGTACCACGGCT
750371878	223024	NM_020771.3(HACE1):c.805C>T (p.Arg269Ter)	HACE1	Feb 04, 2016	MedGen:C4225215,OMIM:616756,Orphanet:ORPHA464282	Spastic paraplegia and psychomotor retardation with or without seizures	germline	6	104796666	ATTATTCAAATGACACAGAATGAAGACCTCCGAGAAAACATGGTATTGTATTTGTGATAGT
780020495	429997	NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter)	BRIP1	Dec 05, 2016	MedGen:CN068837;MedGen:C0027672,SNOMED CT:699346009	Breast cancer, early-onset;Hereditary cancer-predisposing syndrome	germline	17	61780893	TTGGTTCTACCAAAAAATAAGAAACGTTCACGACAGAAAACTGCAGTTCATGTGCTAAACT
118203921	15641	NM_000277.2(PAH):c.776C>T (p.Ala259Val)	PAH	Aug 23, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852881	TTTCCTCTCGGGATTTCTTGGGTGGCCTGGCCTTCCGAGTCTTCCACTGCACACAGTACAT
281865120	47016	NM_014363.5(SACS):c.12160C>T (p.Gln4054Ter)	SACS	Sep 30, 2016	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN517202	Spastic ataxia Charlevoix-Saguenay type;not provided	germline;unknown	13	23331716	GGATTGAAAGTATCCTGCTTTGAAAAGCTTCAAACAACATTAAGAGTTAAAGGTTTTAATC
1057519510	362295	NM_001003694.1(BRPF1):c.1363C>T (p.Arg455Ter)	BRPF1	Sep 15, 2017	MedGen:C4310617,OMIM:617333;MedGen:CN517202	Intellectual developmental disorder with dysmorphic facies and ptosis;not provided	germline	3	9739762	GACATCCACACGCCTCCAGGTTCAGCACGCCGACTGCCTGCCCTGTCCCACAGCGAGGGTG
-1	432446	NM_001085458.1(CTNND1):c.2098C>T (p.Arg700Ter)	CTNND1	Sep 20, 2017	MedGen:CN479606,OMIM:617681	BLEPHAROCHEILODONTIC SYNDROME 2	germline	11	57808396	ACCCCTTTCTATTTGCTATTCTAGTATGGTCGATACATCCGCTCTGCTCTGCGTCAAGAGA
267606954	33462	NM_016341.3(PLCE1):c.961C>T (p.Arg321Ter)	PLCE1	Jul 01, 2010	MedGen:C1853124,OMIM:610725	Nephrotic syndrome, type 3	germline	10	94032007	GAAGAAGACGCTTTTAAAAGCAAAAAGGAGCGATCCACTTTGTTAGTCAGGAGATTCTGTA
886039553	260000	NM_130799.2(MEN1):c.421C>T (p.Gln141Ter)	MEN1	Jun 10, 2016	MedGen:CN517202	not provided	germline	11	64809689	CGCTCCTACTTCAAGGATCGGGCCCACATCCAGTCCCTCTTCAGCTTCATCACAGGTTGGA
121434314	16851	NM_152594.2(SPRED1):c.643C>T (p.Gln215Ter)	SPRED1	Sep 01, 2007	MedGen:C1969623,OMIM:611431,Orphanet:ORPHA137605	Legius syndrome	germline	15	38349482	CAGAGCAGAAGTATGGAATACGTACAGCGGCAAATATCCAAGGAATGTGGAAGCCTAAAGT
121917821	19443	NM_052968.4(APOA5):c.415C>T (p.Gln139Ter)	APOA5	Oct 01, 2005	MedGen:C0020481,OMIM:144650,Orphanet:ORPHA70470,SNOMED CT:34349009	Familial type 5 hyperlipoproteinemia	germline	11	116790814	CTGAAGCCCTACACGATGGATCTGATGGAGCAGGTGGCCCTGCGCGTGCAGGAGCTGCAGG
55819880	33031	NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)	SERPINA1	Jul 15, 2016	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007;na	Alpha-1-antitrypsin deficiency;PI S(IIYAMA)	germline;unknown	14	94383008	ACCAGTCCAACAGCACCAATATCTTCTTCTCCCCAGTGAGCATCGCTACAGCCTTTGCAAT
1131691189	421121	NM_177438.2(DICER1):c.3019C>T (p.Gln1007Ter)	DICER1	Aug 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	14	95105752	CTTAATCTTTTGACACCTCGACATTTGAATCAGAAGGGGAAAGCGCTTCCTTTAAGCAGTG
104894653	28851	NM_030753.4(WNT3):c.247C>T (p.Gln83Ter)	WNT3	Mar 01, 2004	MedGen:C2749279,OMIM:273395	Tetraamelia, autosomal recessive	germline	17	46773743	GTGAAGCTGGGCATCCAGGAGTGCCAGCACCAGTTCCGGGGCCGCCGCTGGAACTGCACCA
1060499552	404699	NM_003482.3(KMT2D):c.10810C>T (p.Gln3604Ter)	KMT2D	Feb 01, 2017	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	de novo	12	49033895	GAATATCGGAACAAGCAGCAGCAACAACAGCAGCAGCAGCAGCAACAACAGCAACAGCACT
786202421	183797	NM_000059.3(BRCA2):c.4246C>T (p.Gln1416Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32338601	AAAGAACAGTTAACTGCTACTAAAACGGAGCAAAATATAAAAGATTTTGAGACTTCTGATA
370031870	213955	NM_021628.2(ALOXE3):c.418C>T (p.Arg140Ter)	ALOXE3	-	Gene:140560,MedGen:C1847849,OMIM:606545	Autosomal recessive congenital ichthyosis 3	germline	17	8115623	CTGGATCACAGGACACGGGAGCTCCGGGCCCGACAAGAATGCTACCGGTGAGGGTGGCCTA
397514708	70561	NM_001482.2(GATM):c.505C>T (p.Arg169Ter)	GATM	Jul 01, 2013	MedGen:C2675179,OMIM:612718,Orphanet:ORPHA35704	Arginine:glycine amidinotransferase deficiency	germline	15	45368240	GGTCTGACAGGTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGA
80356691	33903	NM_000083.2(CLCN1):c.929C>T (p.Thr310Met)	CLCN1	May 03, 2016	MedGen:C0027127,Orphanet:ORPHA206973;MedGen:CN517202	Myotonia congenita;not provided	germline	7	143330847	GGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGC
886041883	264368	NM_012330.3(KAT6B):c.5101C>T (p.Gln1701Ter)	KAT6B	Feb 16, 2017	MedGen:CN517202	not provided	germline	10	75029925	GGAGGCAGCATCTGTGGAAACGGCTCTTCACAGAACAGCTGCTCCTATAGCAACCTCACCT
1060499669	384441	NM_003482.3(KMT2D):c.12661C>T (p.Gln4221Ter)	KMT2D	Nov 21, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	de novo	12	49032044	CTGCGGCACTTAAGTCCTCAGCAGCAGCAGCAGCTACAGGCACTCCTCATGCAGCGGCAGC
754728827	360075	NM_000545.6(HNF1A):c.526C>T (p.Gln176Ter)	HNF1A	Apr 06, 2016	MedGen:CN517202	not provided	germline	12	120989032	TACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCC
34474104	30020	NM_000184.2(HBG2):c.190C>T (p.His64Tyr)	HBG2	Jan 01, 2008	MedGen:C3151421,OMIM:613977,Orphanet:ORPHA280615	Cyanosis, transient neonatal	germline	11	5254417	GCCATCATGGGCAACCCCAAAGTCAAGGCACATGGCAAGAAGGTGCTGACTTCCTTGGGAG
267607617	77664	NM_170707.3(LMNA):c.1063C>T (p.Gln355Ter)	LMNA	Jun 16, 2016	MedGen:CN043576;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;not provided	germline	1	156136027	ATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACA
398124092	100739	NM_004006.2(DMD):c.9337C>T (p.Arg3113Ter)	DMD	Aug 03, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Duchenne muscular dystrophy;not provided	germline	X	31223071	TTCTCAGCTTATAGGACTGCCATGAAACTCCGAAGACTGCAGAAGGCCCTTTGCTGTAAGT
121908717	16994	NM_000022.3(ADA):c.301C>T (p.Arg101Trp)	ADA	Aug 01, 1990	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44626517	GCCAAAGAGGGCGTGGTGTATGTGGAGGTGCGGTACAGTCCGCACCTGCTGGCCAACTCCA
879253717	25039	NM_000425.4(L1CAM):c.2974C>T (p.Gln992Ter)	L1CAM	Jan 05, 2017	MedGen:C1844006;MedGen:CN517202	Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction;not provided	germline	X	153864893	GATCTCAGCCCCCACCTGCGGTACCGCTTCCAGCTTCAGGCCACCACCAAAGAGGGCCCTG
587777436	139388	NM_001042498.2(SLC35A2):c.638C>T (p.Ser213Phe)	SLC35A2	Dec 01, 2013	MedGen:C3806688,OMIM:300896,Orphanet:ORPHA356961	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	germline	X	48905271	TGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGAT
863224455	212399	NM_000038.5(APC):c.1072C>T (p.Gln358Ter)	APC	May 12, 2015	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112819104	CGACAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTG
1057521143	379199	NM_000444.5(PHEX):c.565C>T (p.Gln189Ter)	PHEX	Jan 09, 2017	MedGen:CN517202	not provided	germline	X	22077604	GTTTGGTCAGAGAGAAAGTTCAGCCTTCTGCAGACACTTGCAACGTTTCGTGGTCAATACA
-1	443928	NM_020732.3(ARID1B):c.6382C>T (p.Arg2128Ter)	ARID1B	Jul 17, 2017	MedGen:CN517202	not provided	germline	6	157207523	TACGTTGGGGATCGCAAAAACCCAGTCTGTCGAGAAATGTCCATGGCGCTTTTATCGAACC
794726873	190209	NM_000088.3(COL1A1):c.91C>T (p.Gln31Ter)	COL1A1	Apr 21, 2015	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004;MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta type I;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50201423	CACGGCCAAGAGGAAGGCCAAGTCGAGGGCCAAGACGAAGACAGTAAGTCCCAAACTTTTG
74315478	18122	NM_000487.5(ARSA):c.1136C>T (p.Pro379Leu)	ARSA	Jan 01, 1994	MedGen:C4017095	Arylsulfatase a pseudodeficiency, severe	germline	22	50625653	AGAGCCCTCGGCAGTCTCTCTTCTTCTACCCGTCCTACCCAGACGAGGTCCGTGGGGTTTT
763573828	361767	NM_033068.2(ACP4):c.713C>T (p.Ser238Leu)	ACP4	Jan 18, 2017	MedGen:C4310630,OMIM:617297	Amelogenesis imperfecta, type IJ	germline	19	50793751	CAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCC
148891849	221600	NM_001369.2(DNAH5):c.5281C>T (p.Arg1761Ter)	DNAH5	Oct 03, 2015	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13841895	TTTTTTTGGTTTCTAACATAGATCTATGATCGAATTCTGTCAATTTCCTCTCAAGAGGGTG
1064793986	411318	NM_004006.2(DMD):c.3487C>T (p.Gln1163Ter)	DMD	Aug 20, 2015	MedGen:CN517202	not provided	germline	X	32454778	AAGGGAGGTTTGGAGAAAACTGTAAGCCTCCAGAAAGATCTATCAGAGATGCACGAATGGA
121909639	31335	NM_023110.2(FGFR1):c.1825C>T (p.Arg609Ter)	FGFR1	Apr 28, 2017	na;MedGen:C1563720,OMIM:147950;MedGen:CN517202	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO;Kallmann syndrome 2;not provided	germline	8	38415899	GACCTGGTGTCCTGCGCCTACCAGGTGGCCCGAGGCATGGAGTATCTGGCCTCCAAGAAGG
121964925	27130	NM_199186.2(BPGM):c.268C>T (p.Arg90Cys)	BPGM	Nov 15, 1992	MedGen:C1291620,OMIM:222800,SNOMED CT:124678007	Deficiency of bisphosphoglycerate mutase	germline	7	134661775	CCTGTGGAAAGCTCCTGGCGTCTAAATGAGCGTCACTATGGGGCCTTGATCGGTCTCAACA
104894402	32050	NM_004004.5(GJB2):c.223C>T (p.Arg75Trp)	GJB2	Dec 22, 2016	MedGen:C2675750,OMIM:601544;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness	germline	13	20189359	TACGATCACTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGT
387906637	38687	NM_000833.4(GRIN2A):c.652C>T (p.Gln218Ter)	GRIN2A	Nov 01, 2010	MedGen:C1832814,OMIM:245570	Epilepsy, focal, with speech disorder and with or without mental retardation	germline	16	9938314	ACTTCCTTTGAGGATGCAAAGACACAAGTCCAGCTGAAGAAGATCCACTCTTCTGTCATCT
587784151	168224	NM_022455.4(NSD1):c.5566C>T (p.Gln1856Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177273728	GAGGAATTAAAGGCCCAAAAAGAGCTAAGACAGCTGCAGGAAGACCGAAAGAATGACAAGA
151340631	26821	NM_000052.6(ATP7A):c.1910C>T (p.Ser637Leu)	ATP7A	Feb 08, 2013	MedGen:C0268353,OMIM:304150,Orphanet:ORPHA198,SNOMED CT:59399004;MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Cutis laxa, X-linked;Menkes kinky-hair syndrome	germline	X	78011216	TTGAAGCTTCTTTGGTCAAGAAGGATCGGTCAGCAAGTCACTTAGATCATAAACGAGAAAT
150966634	408448	NM_007103.3(NDUFV1):c.1156C>T (p.Arg386Cys)	NDUFV1	Jul 25, 2016	MedGen:CN517202	not provided	germline	11	67611972	CACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGC
387906770	39062	NM_002052.4(GATA4):c.127C>T (p.Arg43Trp)	GATA4	Apr 01, 2012	MedGen:C3280777,OMIM:614429	Ventricular septal defect 1	germline	8	11708439	GCGTCCTCGCCAGTCTACGTGCCCACACCGCGGGTGCCCTCCTCCGTGCTGGGCCTGTCCT
886038978	258663	NM_001613.2(ACTA2):c.940C>T (p.Arg314Ter)	ACTA2	Mar 04, 2015	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	10	88938111	GGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCAC
797044912	205288	NM_001271.3(CHD2):c.5035C>T (p.Arg1679Ter)	CHD2	Oct 21, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	15	93020140	TGGTACAAGGACCACCATTATGGGGACCGGCGACATATGGATGCCCACCGTTCCGGAAGCT
267606919	21912	NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter)	NPHS1	Jun 25, 2017	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	germline;unknown	19	35831056	CCCCCGACGCAGGAGGAGGTGTCTTATTCCCGAGGTGAGTTAGGACCATGTCAGGATTCCC
768514713	429287	NM_000920.3(PC):c.1357C>T (p.Arg453Ter)	PC	Aug 08, 2016	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001	Pyruvate carboxylase deficiency	germline	11	66863785	ATGAGCAGGGCCCTTGCGGAGTTCCGCGTCCGAGGTGTGAAGGTGAGAGGCTGCAGCCCCC
119490108	20676	NM_012203.1(GRHPR):c.295C>T (p.Arg99Ter)	GRHPR	Nov 02, 2017	MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006;MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006;MedGen:CN517202	Primary hyperoxaluria;Primary hyperoxaluria, type II;not provided	germline	9	37426545	ACCACCAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCTGACAG
879253956	244884	NM_001376.4(DYNC1H1):c.9092C>T (p.Thr3031Met)	DYNC1H1	Oct 17, 2016	MedGen:CN517202	not provided	germline	14	102027662	TTGAAGGAGACGAGTATGCCACCTTGATGACGCAGTGCAAAGAGGGGGCACAGAAGGAAGG
-1	426896	NM_001171.5(ABCC6):c.3119C>T (p.Pro1040Leu)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16165810	GATCTCCCATCAGCTTCTTTGAGCGGACACCCATTGGTCACCTGCTAAACCGCTTCTCCAA
794727792	195318	NM_003165.3(STXBP1):c.364C>T (p.Arg122Ter)	STXBP1	Feb 24, 2017	MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy 4;not provided	germline	9	127661140	GATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGG
121434506	23749	NM_021922.2(FANCE):c.421C>T (p.Arg141Ter)	FANCE	Nov 01, 2000	MedGen:C3160739,OMIM:600901	Fanconi anemia, complementation group E	germline	6	35455919	GCCTGGCTCCGTGCCCTGGGGGAATTGCTGCGAAGGGATTTGGGGGTGGGGACCTCCATGG
763718818	259987	NM_207122.1(EXT2):c.937C>T (p.Gln313Ter)	EXT2	Jun 02, 2017	MedGen:C1851413,OMIM:133701;MedGen:CN517202	Multiple exostoses type 2;not provided	germline	11	44124982	CACCAGGTCTTCGATTACCCACAGGTGCTACAGGTGAGTGTCATTCATTACCTCTCGCAAA
587783809	169971	NM_000252.2(MTM1):c.208C>T (p.Leu70Phe)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150598663	AAGGGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACGGTAAGTA
773159585	213789	NM_014874.3(MFN2):c.707C>T (p.Thr236Met)	MFN2	Jul 13, 2016	MedGen:CN043576;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;Human Phenotype Ontology:HP:0008944,MedGen:C1836451;Human Phenotype Ontology:HP:0002460,MedGen:C1864696;Human Phenotype Ontology:HP:0003477,MedGen:C1263857	Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A;Distal lower limb amyotrophy;Distal muscle weakness;Peripheral axonal neuropathy	germline;unknown	1	11998877	TGGCCAACTCAGAGTCCACCCTGATGCAGACGGTAACTCCTCCTCTGCCTTCTCCCAAGCT
398123812	100284	NM_003919.2(SGCE):c.709C>T (p.Arg237Ter)	SGCE	Feb 24, 2017	MedGen:C1834570,OMIM:159900,Orphanet:ORPHA36899,SNOMED CT:439732004;MedGen:CN517202	Myoclonic dystonia;not provided	germline	7	94603406	GGTGCAGATGTCCCGTTTTCTTCTTGTTTACGAGAAGTTGAAAATCCACAGAATCAATTGA
397514553	48246	NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)	NRAS	Feb 25, 2016	Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003;MedGen:C0041409,OMIM:163950	Epidermal nevus;Noonan syndrome 1	germline;somatic	1	114716060	TCCAGAACCACTTTGTAGATGAATATGATCCCACCATAGAGGTGAGGCCCAGTGGTAGCCC
201322234	38690	NM_001244710.1(GFPT1):c.331C>T (p.Arg111Cys)	GFPT1	Feb 11, 2011	MedGen:C3552335,OMIM:610542	Congenital myasthenic syndrome 12	germline	2	69363563	GAACCCAGTCCTGTCAATAGCCACCCCCAGCGCTCTGATAAAAATAATGGTATGGAAAGAT
1131691072	420801	NM_001042492.2(NF1):c.4195C>T (p.Gln1399Ter)	NF1	Dec 21, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN169374	Hereditary cancer-predisposing syndrome;not specified	germline	17	31258365	TGTTTTTAGGTGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCA
-1	482146	NM_001288653.1(CLTC):c.2062C>T (p.Gln688Ter)	CLTC	Dec 12, 2017	MedGen:CN517202	not provided	germline	17	59666899	AACATCCGTCAGAATCTGCAGATTTGTGTTCAGGTGGCTTCTAAATATCATGAACAACTGT
80356750	15884	NM_012463.3(ATP6V0A2):c.187C>T (p.Arg63Ter)	ATP6V0A2	Aug 30, 2013	MedGen:C0268355,OMIM:219200,Orphanet:ORPHA357058,SNOMED CT:73856006	Cutis laxa with osteodystrophy	germline	12	123718692	GGTGAGGTGAAGAGGTGTGAAGAGCTAGAGCGAATATTGGGTAAGTTTATTTTCTGATTTA
121964879	27264	NM_001692.3(ATP6V1B1):c.91C>T (p.Arg31Ter)	ATP6V1B1	Jan 01, 1999	MedGen:C4016429	Renal tubular acidosis, distal, with progressive deafness	germline	2	70936045	GCAGCCCGAGAACACATGCAGGCGGTCACCCGAAACTACATCACCCACCCCCGTGTCAGTG
796053224	202751	NM_014191.3(SCN8A):c.4949C>T (p.Ala1650Val)	SCN8A	Oct 18, 2013	MedGen:CN517202	not provided	germline	12	51806435	TGCTCTTTGCCTTAATGATGTCCTTGCCTGCCCTGTTCAACATCGGCCTTCTGCTCTTCCT
80356945	69207	NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter)	BRCA1	Jul 30, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43093193	TCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCA
137853315	26806	NM_001110556.1(FLNA):c.383C>T (p.Ala128Val)	FLNA	Mar 01, 2006	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154368081	TGGCCACTCTTCTACTCACAGACAGCAAGGCCATCGTGGACGGGAACCTGAAGCTGATCCT
878853438	239565	NM_000038.5(APC):c.3391C>T (p.Gln1131Ter)	APC	Nov 22, 2016	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline	5	112838985	ATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTA
267606624	15066	NM_015600.4(ABHD12):c.1054C>T (p.Arg352Ter)	ABHD12	Sep 10, 2010	MedGen:C2675204,OMIM:612674,Orphanet:ORPHA171848	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	germline	20	25302322	CCCCAGCTCTATAGCATCGCCGCACCAGCTCGAAGCTTCCGAGATTTCAAAGTTCAGTTTG
121965020	26948	NM_000203.4(IDUA):c.208C>T (p.Gln70Ter)	IDUA	Aug 04, 2016	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473;MedGen:C0023786,Orphanet:ORPHA579;MedGen:C0086431,OMIM:607015,Orphanet:ORPHA93476,SNOMED CT:26745009;MedGen:C0026708,OMIM:607016,Orphanet:ORPHA93474,SNOMED CT:73123008	Hurler syndrome;Mucopolysaccharidosis type I;Mucopolysaccharidosis, MPS-I-H/S;Mucopolysaccharidosis, MPS-I-S	germline;unknown	4	987858	CAGGCTGACCAGTACGTCCTCAGCTGGGACCAGCAGCTCAACCTCGCCTATGTGGGCGCCG
1057519304	361821	NM_001128608.1(MAPKBP1):c.4393C>T (p.Arg1465Ter)	MAPKBP1	May 22, 2017	MedGen:CN781300,OMIM:617271	Nephronophthisis 20	germline	15	41825284	CAGCTCCTCAGAGACACCTTCTCTTCAGTGCGACAGGAGCTGGAAGCTGTGGCTGGGGCAG
587777462	143133	NM_001128849.1(SMARCA4):c.643C>T (p.Gln215Ter)	SMARCA4	May 01, 2014	MedGen:C2750074,OMIM:613325	Rhabdoid tumor predisposition syndrome 2	unknown	19	10986476	CAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGG
80356893	68976	NM_007294.3(BRCA1):c.1612C>T (p.Gln538Ter)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	germline	17	43093919	ACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATA
-1	481725	NM_005859.4(PURA):c.205C>T (p.Gln69Ter)	PURA	Aug 04, 2017	MedGen:CN517202	not provided	germline	5	140114386	CAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGC
886040873	262113	NM_015247.2(CYLD):c.1363C>T (p.Gln455Ter)	CYLD	Sep 23, 2016	MedGen:C1851526,OMIM:132700	Cylindromatosis, familial	germline	16	50779889	GTAATGGAAGAGCTAAACACTGCACCCGTCCAAGAGAGTCCACCCTTGGCCATGCCTCCTG
387907368	65574	NM_207111.3(RNF216):c.2251C>T (p.Arg751Cys)	RNF216	May 23, 2013	MedGen:C1859305,OMIM:212840,Orphanet:ORPHA1173	Gordon Holmes syndrome	germline	7	5641285	AAATCTGAAGGCTGCAACCGCATGTCTTGCCGCTGTGGTGCCCAGATGTGCTACCTCTGTC
370270828	171269	NM_001519.3(BRF1):c.667C>T (p.Arg223Trp)	BRF1	Jan 05, 2015	MedGen:C4015495,OMIM:616202,Orphanet:ORPHA444072;MedGen:CN221667	Cerebellofaciodental syndrome;cerebellar-facial-dental syndrome	germline	14	105241292	AGGATGAAGCGGGACTGGATGCACACAGGCCGGCGCCCCTCGGGCCTCTGCGGAGCAGGTA
104893688	16936	NM_000060.4(BTD):c.1595C>T (p.Thr532Met)	BTD	Sep 15, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline;unknown	3	15645451	GGAAAAGTAGGCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCTTGTATGAGAG
119481077	19916	NM_000197.1(HSD17B3):c.238C>T (p.Arg80Trp)	HSD17B3	May 04, 2017	MedGen:CN239160;MedGen:C0033804;MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006;MedGen:CN517202	17-Beta-Hydroxysteroid Dehydrogenase III Deficiency;Pseudohermaphroditism;Testosterone 17-beta-dehydrogenase deficiency;not provided	germline	9	96254907	AAACGTGGACTCAATGTTGTCCTTATTAGCCGGACGCTGGAAAAACTAGAGGCCATTGCCA
80359850	16779	NM_001017420.2(ESCO2):c.604C>T (p.Gln202Ter)	ESCO2	Oct 02, 2008	MedGen:C0392475,OMIM:268300,OMIM:269000,SNOMED CT:48718006	Roberts-SC phocomelia syndrome	germline	8	27776912	CCTCGGGTTCTGAGCCAAAAAATAAAACCACAAGTTACACTCCAGGGTGGAGCAGCATTTT
863224150	212009	NM_000284.3(PDHA1):c.506C>T (p.Ala169Val)	PDHA1	Apr 17, 2015	MedGen:CN517202	not provided	germline	X	19353169	ACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTAGTCAAGGACGAGGATTGTGTGCT
863223537	209956	NM_000118.3(ENG):c.562C>T (p.Gln188Ter)	ENG	Nov 02, 2016	MedGen:CN517202	not provided	germline	9	127825822	TCACTGTCCTTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTGGCGGC
137853263	25900	NM_000276.3(OCRL):c.952C>T (p.Arg318Cys)	OCRL	Sep 25, 2014	MedGen:C1845167,OMIM:300555,Orphanet:ORPHA93623;MedGen:C0028860,OMIM:309000,Orphanet:ORPHA534,SNOMED CT:79385002	Dent disease 2;Lowe syndrome	germline	X	129562396	ACTCCCCGGAACTCATAGGTTCAACTGGTGCGCCTTGTTGGGATGATGCTTCTTATATTTG
121917886	24122	NM_022788.4(P2RY12):c.793C>T (p.Arg265Trp)	P2RY12	Jun 14, 2017	MedGen:C1853278,OMIM:609821,Orphanet:ORPHA36355	Platelet-type bleeding disorder 8	germline	3	151338053	GCCCGAATTCCTTACACCCTGAGCCAAACCCGGGATGTCTTTGACTGCACTGCTGAAAATA
376161880	264567	NM_024079.4(ALG8):c.1090C>T (p.Arg364Ter)	ALG8	Feb 21, 2018	MedGen:CN818986,OMIM:617874;MedGen:CN517202	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS;not provided	germline	11	78106895	TTTAAACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTAACTCTTTGTGCCTTGAGCTCCT
878853162	237527	NM_178014.3(TUBB):c.662C>T (p.Thr221Ile)	TUBB	Apr 14, 2016	MedGen:C4014283,OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	de novo	6	30723724	GCTTCCGCACTCTGAAGCTGACCACACCAACCTACGGGGATCTGAACCACCTTGTCTCAGC
1057520694	367936	NM_001615.3(ACTG2):c.584C>T (p.Thr195Ile)	ACTG2	May 26, 2015	MedGen:CN517202	not provided	germline	2	73913617	ACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGG
281864780	49818	NM_212472.2(PRKAR1A):c.82C>T (p.Gln28Ter)	PRKAR1A	Sep 20, 2012	MedGen:C2607929,OMIM:160980	Carney complex, type 1	not provided	17	68515481	TGTGAGCTCTACGTCCAGAAGCATAACATTCAAGCGCTGCTCAAAGATTCTATTGTGCAGT
119476046	19385	NM_015915.4(ATL1):c.715C>T (p.Arg239Cys)	ATL1	Jun 22, 2017	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984;MedGen:CN517202	Spastic paraplegia 3;not provided	germline	14	50613343	GCCGATGGTGGTGCCAAATTCTTGGAAAAACGCCTCAAGGTTTGTTAGATATTTAGGTGCA
281865419	27425	NM_000594.3(TNF):c.322C>T (p.Arg108Trp)	TNF	Jan 21, 1993	MedGen:C4016415	TNF receptor binding, altered	germline	6	31577157	GCTGAGGGGCAGCTCCAGTGGCTGAACCGCCGGGCCAATGCCCTCCTGGCCAATGGCGTGG
56361140	32801	NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter)	SLC4A1	Aug 01, 1996	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44260441	ATCTTTGAAGACCAGATCCGGCCTCAGGACCGAGAGGAGCTGCTCCGGGCCCTGCTGCTTA
398123018	51189	NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp)	RTEL1	Jun 16, 2016	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008;MedGen:C3554656,OMIM:615190	Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive, 5	germline	20	63693160	CCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGG
121918005	28706	NM_000478.5(ALPL):c.98C>T (p.Ala33Val)	ALPL	Oct 15, 1992	Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Infantile hypophosphatasia	germline	1	21560662	AGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCCCTGGAGCT
-1	433265	NM_000267.3(NF1):c.7411C>T (p.Gln2471Ter)	NF1	Mar 14, 2017	MedGen:CN169374	not specified	germline	17	31352273	TTTTCATCTTTCAGGACACTAAAGGAGACTCAGCCATGGTCCTCTCCCAAAGGTTCTGAAG
121912585	17475	NM_001173464.1(KIF21A):c.2860C>T (p.Arg954Trp)	KIF21A	Aug 17, 2016	MedGen:C1851102,OMIM:135700;MedGen:C2751105;MedGen:CN517202	Fibrosis of extraocular muscles, congenital, 1;Fibrosis of extraocular muscles, congenital, 3b;not provided	germline	12	39332405	TTAAAATCCAACCTGCTTTCTCAATAGCAACGGGAGGAACTCACAAAAAGACGAGAGAAAC
-1	472548	NM_000465.3(BARD1):c.1345C>T (p.Gln449Ter)	BARD1	Mar 30, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214769282	GGCGACATACCTTCTGTTGAATACCTTTTACAAAATGGAAGTGATCCAAATGTTAAAGACC
267606870	362868	NM_002168.3(IDH2):c.418C>T (p.Arg140Trp)	IDH2	Feb 16, 2018	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037	Acute myeloid leukemia;Colorectal Neoplasms;Multiple myeloma;Myelodysplastic syndrome;Squamous cell carcinoma of the head and neck	somatic	15	90088703	AAGATGTGGAAAAGTCCCAATGGAACTATCCGGAACATCCTGGGGGGGACTGTCTTCCGGG
137854435	15809	NM_198488.3(FAM83H):c.973C>T (p.Arg325Ter)	FAM83H	Jan 01, 2012	MedGen:C0399376,OMIM:130900,Orphanet:ORPHA100032,SNOMED CT:109471001	Amelogenesis imperfecta, hypocalcification type	germline	8	143728488	GGGGCGCCAACCCCCTTCTCCTTCCCTAAACGAGCGCACCTCCTGTTCCCGCCACCCCGGG
-1	455113	NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter)	DNAH5	Aug 14, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13830621	GTTTTCAATTGTTCAGACCAGATGGATTTCCGAGGACTTGGACGGATTTTTAAGGGTATGG
690016553	171825	NM_005211.3(CSF1R):c.2701C>T (p.Pro901Ser)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150054384	GCCTGCTGGGCCTTGGAGCCCACCCACAGACCCACCTTCCAGCAGATCTGCTCCTTCCTTC
201633414	359376	NM_000388.3(CASR):c.73C>T (p.Arg25Ter)	CASR	Jul 11, 2017	MedGen:C0342345,OMIM:601198;MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:CN517202	Hypocalcemia, autosomal dominant 1;Hypocalciuric hypercalcemia, familial, type 1;not provided	germline	3	122254262	TGGCACACCTCTGCCTACGGGCCAGACCAGCGAGCCCAAAAGAAGGGGGACATTATCCTTG
387907103	40049	NM_017813.4(IMPAD1):c.559C>T (p.Arg187Ter)	IMPAD1	Nov 30, 2017	MedGen:C3279757,OMIM:614078,Orphanet:ORPHA280586;MedGen:CN517202	Chondrodysplasia with joint dislocations, GPAPP type;not provided	germline	8	56978137	TGTTTTGTTTTTTTTCTCATAGAGGATCTTCGAAAGTACGTCACTACTATGGTGTGTGTGG
754545360	216029	NM_172250.2(MMAA):c.397C>T (p.Gln133Ter)	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145639536	CTTCAGAAAGTATTACTTTACCACAGAGAACAAGAACAATCAAATAAAGGAAAACCACTAG
111033697	45909	NM_000155.3(GALT):c.428C>T (p.Ser143Leu)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647882	CCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGC
386134156	51290	NM_000096.3(CP):c.2701C>T (p.Arg901Ter)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149178592	AGTGGATTAATTGGCCCCCTGATTGTTTGTCGAAGACCTTACTTGAAAGTATTCAATCCCA
373208120	357287	NM_174878.2(CLRN1):c.619C>T (p.Arg207Ter)	CLRN1	Nov 02, 2016	MedGen:C1568248,OMIM:276902,Orphanet:ORPHA231183	Usher syndrome, type 3A	unknown	3	150928016	TTTGTTCATTTTCTGAATGGGCTCCTAATACGACTTGCTGGATTTCAGTTCCCTTTTGCAA
-1	434161	NM_000384.2(APOB):c.13126C>T (p.Gln4376Ter)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21002296	GAGCTTCAGGAAGCTTCTCAAGAGTTACAGCAGATCCATCAATACATTATGGCCCTTCGTG
137852897	17803	NM_024312.4(GNPTAB):c.3565C>T (p.Arg1189Ter)	GNPTAB	Jun 02, 2014	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576;MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	I cell disease;Pseudo-Hurler polydystrophy	germline	12	101753409	CCTTCCCAATTTGAACTGCCAAGAGAGTATCGAAACCGTTTCCTTCATATGCATGAGCTGC
-1	458625	NM_018972.2(GDAP1):c.703C>T (p.Gln235Ter)	GDAP1	Feb 27, 2017	MedGen:C1859198,OMIM:214400,Orphanet:ORPHA99948	Charcot-Marie-Tooth disease, type 4A	germline	8	74363993	CTATGTCCCTTTCTCTAATTAGAAGAGGGCCAGCAACCTTGGCTCTGCGGTGAATCCTTCA
121912822	32553	NM_020549.4(CHAT):c.1258C>T (p.Arg420Cys)	CHAT	Feb 13, 2001	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49646651	GGCGGAGGCTACAGCAAGAACGGGGCCAATCGCTGGTACGACAAGTCCCTGCAGGTAAGCC
80357296	69580	NM_007294.3(BRCA1):c.3544C>T (p.Gln1182Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43091987	GAAAGTTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTCCTAGCC
80358578	66117	NM_000059.3(BRCA2):c.3319C>T (p.Gln1107Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32337674	TTTAATTCAAACCATAATTTAACACCTAGCCAAAAGGCAGAAATTACAGAACTTTCTACTA
879255247	178824	NM_004793.3(LONP1):c.2026C>T (p.Pro676Ser)	LONP1	Jan 08, 2015	MedGen:C1838180,OMIM:600373,Orphanet:ORPHA1458	CODAS syndrome	germline	19	5694889	TGACGGTTGCCCTTGCAGCGCTACCTGGTGCCCCAGGCTCGCGCCCTGTGTGGCTTGGATG
796052495	201864	NM_000806.5(GABRA1):c.881C>T (p.Thr294Ile)	GABRA1	Oct 09, 2017	MedGen:CN517202	not provided	germline	5	161895690	TTACAGGAGTAACAACTGTGCTCACCATGACAACATTGAGCATCAGTGCCAGAAACTCCCT
76296470	15620	NM_000277.2(PAH):c.331C>T (p.Arg111Ter)	PAH	May 03, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102894756	GACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGTAAGAATT
-1	485828	NM_000044.4(AR):c.214C>T (p.Gln72Ter)	AR	Nov 07, 2012	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67545360	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGA
766199971	487165	NM_000414.3(HSD17B4):c.1516C>T (p.Arg506Cys)	HSD17B4	Feb 16, 2017	MedGen:C0342870,OMIM:261515,Orphanet:ORPHA300,SNOMED CT:238068007	Bifunctional peroxisomal enzyme deficiency	germline	5	119525228	TTTATGCTTTCTCCACAGGCTGCTTTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACA
143947056	260197	NM_000199.3(SGSH):c.877C>T (p.Pro293Ser)	SGSH	Nov 12, 2016	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-A;not provided	germline;unknown	17	80212143	ACCAACCTGTACTGGCCGGGCACTGCTGAACCCTTACTGGTGTCATCCCCGGAGCACCCAA
121912528	29436	NM_000233.3(LHCGR):c.1118C>T (p.Ala373Val)	LHCGR	Feb 01, 1998	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003	Gonadotropin-independent familial sexual precocity	germline	2	48688679	GGGTCCTGATTTGGCTGATTAATATTCTAGCCATCATGGGAAACATGACTGTTCTTTTTGT
137853145	20752	NM_004750.4(CRLF1):c.829C>T (p.Arg277Ter)	CRLF1	Dec 15, 2008	MedGen:C1848947,OMIM:272430	Cold-induced sweating syndrome 1	germline	19	18596918	CTCTTTCAAGCCAAATACCAGATCCGCTACCGAGTGGAGGACAGTGTGGACTGGAAGGTGA
-1	443069	NM_001256850.1(TTN):c.90085C>T (p.Arg30029Ter)	TTN	Sep 08, 2017	MedGen:CN517202	not provided	germline	2	178546323	GAAAAAGTCTCTTTGCAGTATACTGGCAAACGAGCAACTGCTGTGATCAAGTTCTGTGACA
-1	484096	NM_002485.4(NBN):c.565C>T (p.Gln189Ter)	NBN	Sep 25, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	8	89978239	GAATTCCTGAAAGCAGTTGAGTCCAAGAAGCAGCCTCCACAAATTGAAAGGTATATTATGT
114863111	259720	NM_173076.2(ABCA12):c.3889C>T (p.Arg1297Ter)	ABCA12	Jun 08, 2015	MedGen:CN517202	not provided	germline	2	214987734	TTTCCAATTCTTCCTTCCTATTGGAAGGAGCGATTTGGGTGTGCAGAGGTGAAGCCTGAGA
587777739	166016	NM_001024613.3(FEZF1):c.832C>T (p.His278Tyr)	FEZF1	Sep 04, 2014	MedGen:C4017302	Hypogonadotropic hypogonadism 22 with anosmia	germline	7	122303281	GTCTTTAATGCGCACTATAACTTAACCCGTCACATGCCAGTGCACACAGGAGCCAGACCCT
74315313	17113	NM_020435.3(GJC2):c.718C>T (p.Arg240Ter)	GJC2	Apr 01, 2007	MedGen:C1837355,OMIM:608804,Orphanet:ORPHA280270	Leukodystrophy, hypomyelinating, 2	germline	1	228158476	GGCCAGTACCTGCTGTACGGCTTCGAGGTGCGACCGTTCTTTCCCTGCAGCCGCCAGCCCT
137852367	25168	NM_000132.3(F8):c.566C>T (p.Ser189Leu)	F8	Dec 01, 1989	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154992971	CTCATGTGGACCTGGTAAAAGACTTGAATTCAGGCCTCATTGGAGCCCTACTAGTATGTAG
128626252	26302	NM_004006.2(DMD):c.6790C>T (p.Gln2264Ter)	DMD	Jan 01, 1994	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31929718	CAGTTACTGGTGGAAGAGTTGCCCCTGCGCCAGGGAATTCTCAAACAATTAAATGAAACTG
566755911	216926	NM_001286209.1(GAS8):c.994C>T (p.Gln332Ter)	GAS8	Oct 01, 2015	MedGen:C4225230,OMIM:616726	Ciliary dyskinesia, primary, 33	germline	16	90040357	CGGAAGTTCACCGCAGCCATCCAGGAGGTGCAGCAGAAGACAGGGTTCAAGAACCTCGTGC
878853685	242068	NM_000138.4(FBN1):c.5038C>T (p.Gln1680Ter)	FBN1	Jan 16, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48463926	TACACCTGTATCTGTCCTCCAGACTACATGCAAGTGAATGGGGGAAATAATTGCATGGGTA
122458142	26589	NM_001159702.2(FHL1):c.367C>T (p.His123Tyr)	FHL1	Feb 01, 2009	MedGen:C2678027,OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	germline	X	136207827	CAAAACGTGGAGTACAAGGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCA
61761068	57813	NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser)	PIK3R5	Feb 01, 2012	MedGen:C3554690,OMIM:615217	Ataxia-oculomotor apraxia 3	germline	17	8887116	GAGCGCAATGTACTGGGCCTCATGCACCTGCCCCCTGAAGTCCTGTGCCAGGTAAGTGGCC
121434492	23071	NM_005535.2(IL12RB1):c.94C>T (p.Gln32Ter)	IL12RB1	Mar 02, 2016	MedGen:C4013949,OMIM:614891,Orphanet:ORPHA319552	Immunodeficiency 30	germline	19	18083462	GCTGCCTGCAGAACCAGTGAGTGCTGTTTTCAGGACCCGCCATATCCGGATGCAGACTCAG
763672163	432256	NM_023936.1(MRPS34):c.94C>T (p.Gln32Ter)	MRPS34	Sep 15, 2017	MedGen:CN469327,OMIM:617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	germline	16	1773026	CGGGAGCAACTGAACAGGCCGCGCGACTCCCAGCTCTACGCGGTGGACTACGAGACCTTGA
118204060	16566	NM_000237.2(LPL):c.701C>T (p.Pro234Leu)	LPL	May 01, 1993	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19954279	AGAAACCAGTTGGGCATGTTGACATTTACCCGAATGGAGGTACTTTTCAGCCAGGATGTAA
1057517966	359493	NM_000248.3(MITF):c.763C>T (p.Arg255Ter)	MITF	Oct 31, 2016	MedGen:CN517202	not provided	de novo;germline	3	69959325	ACCATCTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAA
878854909	243667	NM_007194.3(CHEK2):c.1072C>T (p.Gln358Ter)	CHEK2	Mar 29, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009	Familial cancer of breast;Hereditary cancer-predisposing syndrome	germline	22	28696924	TTAAAGCCAGAGAATGTTTTACTGTCATCTCAAGAAGAGGACTGTCTTATAAAGGTAAGAA
104893799	27853	NM_003106.3(SOX2):c.529C>T (p.Gln177Ter)	SOX2	Sep 01, 2006	MedGen:C1859773,OMIM:206900,Orphanet:ORPHA77298	Microphthalmia syndromic 3	germline	3	181712889	AGCAACGGCAGCTACAGCATGATGCAGGACCAGCTGGGCTACCCGCAGCACCCGGGCCTCA
397514459	187805	NM_001165963.1(SCN1A):c.2584C>T (p.Arg862Ter)	SCN1A	Dec 20, 2014	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	de novo;germline	2	166039428	GTGGAAGGATTATCTGTTCTCCGTTCATTTCGATTGGTAAAAAAAAAAAAAAAAAGCACCA
199422244	47550	NM_001363.4(DKC1):c.200C>T (p.Thr67Ile)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154765935	AGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAA
74315366	27817	NM_003000.2(SDHB):c.268C>T (p.Arg90Ter)	SDHB	Jul 14, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma;not provided	germline;unknown	1	17033078	AAGAATGAAGTTGACTCTACTTTGACCTTCCGAAGATCATGCAGAGAAGGTGAGCATTTCA
1057516430	358391	NM_000135.2(FANCA):c.295C>T (p.Gln99Ter)	FANCA	Aug 16, 2016	MedGen:C3469521,OMIM:227650	Fanconi anemia, complementation group A	unknown	16	89811060	GTTTTGTTTTGTGTTTAAGGCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCG
587777261	131949	NM_001111125.2(IQSEC2):c.2563C>T (p.Arg855Ter)	IQSEC2	Feb 01, 2014	Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530	Mental retardation, X-linked 1	germline	X	53248133	CGGGTTCAGGGTGAGGCCCAGAAAGTGGAGCGACTCATCGAAGCCTTCAGGTGTGCCTACC
75166491	108429	NM_000277.2(PAH):c.472C>T (p.Arg158Trp)	PAH	May 04, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102866633	GGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACT
587777486	143184	NM_016122.2(CEP83):c.121C>T (p.Arg41Ter)	CEP83	Jun 05, 2014	MedGen:C3890591,OMIM:615862	Nephronophthisis 18	germline	12	94412370	TTCCAGAAAATGTTAATTGATGAAAGGTTACGATGTGAGCATCATAAAGCTAATTATCAGA
63751294	31053	NM_002087.3(GRN):c.1477C>T (p.Arg493Ter)	GRN	Jun 21, 2017	MedGen:C1843792,OMIM:607485;MedGen:CN517202	Frontotemporal dementia, ubiquitin-positive;not provided	germline	17	44352404	CCGGCTGGCTACACCTGCAACGTGAAGGCTCGATCCTGCGAGAAGGAAGTGGTCTCTGCCC
1057520549	369555	NM_014141.5(CNTNAP2):c.2050C>T (p.Gln684Ter)	CNTNAP2	Mar 18, 2015	MedGen:CN517202	not provided	germline	7	147639258	GCCATCACTGACAGTGCCGAGTACTGCGAGCAGTATGTCTCCTATTTCTGCAAGATGTCAA
-1	481755	NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter)	ARID1B	May 04, 2017	MedGen:CN517202	not provided	germline	6	157206917	ATCAAGCTGCTGGAGGACGAGCCCAGGAGCCGAGACGAGACTCCTCTGTGTACCATCGCGC
786205161	187942	NM_173354.4(SIK1):c.1840C>T (p.Gln614Ter)	SIK1	Apr 02, 2015	MedGen:C4225360,OMIM:616341	Epileptic encephalopathy, early infantile, 30	germline	21	43417679	AAAATCAAGGGGCTGGCTCGCCAGGTGTGCCAGGCCCCCGCCAGCCGGGCCAGCAGGGGCG
121965023	26954	NM_000203.4(IDUA):c.928C>T (p.Gln310Ter)	IDUA	Aug 01, 1993	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473	Hurler syndrome	germline	4	1002117	GCGGACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGG
567961453	431673	NM_001142564.1(CNGA1):c.1885C>T (p.Arg629Ter)	CNGA1	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	4	47936816	CTTAACATTAAAGGGAGCAAAGCTGGCAATCGAAGAACGGCCAATATTAAAAGTATTGGCT
180177248	200524	NM_000030.2(AGXT):c.614C>T (p.Ser205Leu)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240873996	ACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCC
118203916	15443	NM_000353.2(TAT):c.1249C>T (p.Arg417Ter)	TAT	Oct 01, 1992	MedGen:C0268487,OMIM:276600,Orphanet:ORPHA28378	Tyrosinemia type 2	germline	16	71568260	TTGCAGTGCTTTGAGTACCCGAATTTCATCCGAGTGGTCATCACAGTCCCCGAGGTGATGA
786205045	187565	NM_001110792.1(MECP2):c.48C>T (p.Gly16=)	MECP2	Jul 19, 2017	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:CN517202	Rett syndrome;not provided	de novo;germline	X	154097618	CGCCGCGCCGAGCGGAGGAGGAGGAGGAGGCGAGGAGGAGAGACTGTGAGTGGGACCGCCG
864309667	215678	NM_020680.3(SCYL1):c.1636C>T (p.Gln546Ter)	SCYL1	Dec 03, 2015	MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773	Spinocerebellar ataxia 21	germline	11	65536319	AAATTGGAGTCTGTGTCGGAGGACCCGACCCAGCTGGAGGAAGTGGGTGAGTGGCTTACAC
761917087	214825	NM_177550.4(SLC13A5):c.425C>T (p.Thr142Met)	SLC13A5	Nov 01, 2015	MedGen:C4014621,OMIM:615905	Epileptic encephalopathy, early infantile, 25	germline	17	6704000	CAGCCCTCCTGTCCATGTGGATCAGTAACACGGCAACCACGGCCATGATGGTGCCCATCGT
-1	443225	NM_000182.4(HADHA):c.1195C>T (p.Arg399Ter)	HADHA	Aug 29, 2017	MedGen:CN517202	not provided	germline	2	26204087	CTTAAAGATGCCACCCTCACTGCGCTAGACCGAGGACAGCAACAAGTGTTCAAAGGGTAAG
104893898	21928	NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter)	NDUFS4	Nov 15, 2017	MedGen:C1838951;MedGen:C1838979,OMIM:252010	Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency	germline;inherited	5	53646371	AAATGGAAGATGGAGTTTGATACCAGAGAGCGATGGGAAAATCCTTTGATGGGTTGGGCAT
864309526	215085	NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys)	FBLN5	Jul 01, 2013	MedGen:C1837187,OMIM:608895	Age-related macular degeneration 3	germline	14	91877555	GCTGACATCTTCCAAATGCAAGCCACGACCCGCTACCCTGGGGCCTATTACATTTTCCAGA
121965051	15207	NM_000274.3(OAT):c.722C>T (p.Pro241Leu)	OAT	Dec 26, 2016	MedGen:C0018425;Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Gyrate atrophy;Ornithine aminotransferase deficiency	germline	10	124403847	CAATTCAGGGTGAAGCAGGCGTTGTTGTTCCGGATCCAGGTTACCTAATGGGAGTGCGAGA
201725369	194563	NM_213599.2(ANO5):c.172C>T (p.Arg58Trp)	ANO5	Aug 30, 2017	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549;MedGen:C2750076,OMIM:613319,Orphanet:ORPHA399096;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided	germline;inherited	11	22218279	GCAAAGCGATTCAATTTGTTCCTGAGGCGGCGGCTTATGGTAAAACCAGTGCTGAATGATG
80338697	18215	NM_138477.3(CDAN1):c.3124C>T (p.Arg1042Trp)	CDAN1	Sep 01, 2011	MedGen:C0271933,OMIM:224120,Orphanet:ORPHA98869,SNOMED CT:59548005	Congenital dyserythropoietic anemia, type I	germline	15	42726390	CAGGACGTGCTCTCCTTGGCCGTGGGGCCACGGGACCCTGACGAGGGAGTCTCCCCAGAGC
138119149	39897	NM_020745.3(AARS2):c.1774C>T (p.Arg592Trp)	AARS2	Sep 08, 2017	MedGen:C3279793,OMIM:614096,Orphanet:ORPHA319504;MedGen:CN517202	Combined oxidative phosphorylation deficiency 8;not provided	germline;maternal	6	44304512	CTCCCTCAGGACGTGCTGTTCCCAGTAGCCCGGGCCCAGGTCTGTGGAGGTTTCATCCTGC
72551314	76781	NM_000784.3(CYP27A1):c.475C>T (p.Gln159Ter)	CYP27A1	Aug 03, 2016	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000;MedGen:CN517202	Cholestanol storage disease;not provided	germline	2	218812250	AGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAG
193922362	45079	NM_000215.3(JAK3):c.1767C>T (p.Gly589=)	JAK3	Aug 23, 2016	Human Phenotype Ontology:HP:0004430,MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:31323000;MedGen:CN517202	Severe combined immunodeficiency disease;not provided	germline	19	17837148	GTCGTACCGGCATCTCGTGCTGCTCCACGGCGTGTGCATGGCTGGAGACAGTGAGAGCCCC
1064793772	409570	NM_024675.3(PALB2):c.163C>T (p.Gln55Ter)	PALB2	Jun 18, 2015	MedGen:CN517202	not provided	germline	16	23637898	AAGCATTCTATTAAGAAAACAGTAGAAGAACAAGATTGTTTGTCTCAGCAGGATCTCTCAC
377543079	448951	NM_002977.3(SCN9A):c.640C>T (p.Arg214Ter)	SCN9A	Jul 17, 2017	MedGen:C2751777,OMIM:613863;MedGen:C2752089,OMIM:201300	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	germline	2	166304286	TTTGTAAACCTAGGCAATGTTTCAGCTCTTCGAACTTTCAGAGTATTGAGAGCTTTGAAAA
387907153	40213	NM_001099274.1(TINF2):c.805C>T (p.Gln269Ter)	TINF2	May 01, 2012	MedGen:C3151445,OMIM:613990	Dyskeratosis congenita, autosomal dominant, 3	germline	14	24240675	AATCTGGCCCCTCTAGGCCGACGAAGAGTTCAGTCCCAATGGGCCTCCACTAGGGGAGGCC
527236156	152925	NM_001194958.2(KCNJ18):c.1195C>T (p.Arg399Ter)	KCNJ18	Jul 31, 2014	MedGen:C0268446,OMIM:188580,Orphanet:ORPHA79102,SNOMED CT:30967002	Thyrotoxic periodic paralysis	germline	17	21703981	GAGGATGAGGCGGACGGAGACCAGGACGGCCGAAGCCGGGATGGCCTCAGCCCCCAGGCCA
121909110	22538	NM_004452.3(ESRRB):c.329C>T (p.Ala110Val)	ESRRB	Jan 01, 2008	MedGen:C1837857,OMIM:608565	Deafness, autosomal recessive 35	germline	14	76439682	AGCGCCTGTGCCTCGTGTGCGGGGACATTGCCTCTGGCTACCACTACGGCGTGGCCTCCTG
281865076	33956	NM_000195.4(HPS1):c.391C>T (p.Arg131Ter)	HPS1	Oct 11, 2012	MedGen:C2931875,OMIM:203300	Hermansky-Pudlak syndrome 1	not provided	10	98435279	GGGCTGGTGACTGTGGACGGTCATCTTATCCGAAAGGAGTGAGTCTTCAAAGCTGGTCCCC
387906759	39039	NM_007315.3(STAT1):c.800C>T (p.Ala267Val)	STAT1	Jun 01, 2013	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190995205	TCTTGTGTCTTCCCAGGTTCACTATAGTTGCGGAGAGTCTGCAGCAAGTTCGGCAGCAGCT
764623179	188207	NM_000183.2(HADHB):c.1175C>T (p.Ala392Val)	HADHB	May 01, 2014	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Mitochondrial trifunctional protein deficiency	germline	2	26284908	TCCAGGGTCAGATTTTGGCAAATTTTAAAGCCATGGATTCTGATTGGTTTGCAGAAAACTA
62645952	152795	NM_000350.2(ABCA4):c.763C>T (p.Arg255Cys)	ABCA4	-	MedGen:C1858806,OMIM:604116	Cone-rod dystrophy 3	not provided	1	94098799	TATGCCAACGTGGACTTCTTCAAGCTCTTCCGTGTGGTAAGGGAGGGGTTTGGCTGCTCGC
751356206	191605	NM_147127.4(EVC2):c.2263C>T (p.Gln755Ter)	EVC2	Jun 23, 2014	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	germline	4	5622775	GAAAAGGCCACCGACGAGCTGCGGCGCCTGCAGAACTCAGCCATGACCCAGGAGCTGCTCA
781171206	198795	NM_001256850.1(TTN):c.91774C>T (p.Arg30592Ter)	TTN	Nov 13, 2014	MedGen:CN517202	not provided	germline	2	178543276	TGGGAAAAACCACTCTACGATGGTGGTAGCCGACTCACTGGATATGTTCTCGAGGCCTGCA
794729301	198841	NM_001256850.1(TTN):c.87394C>T (p.Arg29132Ter)	TTN	Mar 13, 2017	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2J;not provided	germline	2	178549309	AGCACAAGATGGGTAAAAGTGATCAGCAAACGACCAATCTCTGAAACAAGATTCAAAGTCA
267607016	22357	NM_004560.3(ROR2):c.1324C>T (p.Arg442Ter)	ROR2	Nov 01, 2009	MedGen:C3151610	Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly	germline	9	91726603	CAGAAGGCATCTGCGTCCACACCGCAGCGGCGACAGCTGATGGCCTCGCCCAGCCAAGACA
200844390	27001	NM_014425.4(INVS):c.2695C>T (p.Arg899Ter)	INVS	Jun 14, 2016	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002;MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008	Infantile nephronophthisis;Nephronophthisis	germline	9	100292952	GTGAATATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTCAGAGAGAACGAAGGA
786203950	184531	NM_001042492.2(NF1):c.910C>T (p.Arg304Ter)	NF1	Sep 18, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided;not specified	germline	17	31200443	ATTCTGTAGAAGTTATTTCTGGACAGTCTACGAAAAGCTCTTGCTGGCCATGGAGGAAGTA
769976586	422046	NM_000126.3(ETFA):c.667C>T (p.Arg223Ter)	ETFA	Sep 17, 2015	MedGen:CN517202	not provided	germline	15	76283823	ATTTTTTTTTTTCATCTTTTTAAATGAGGTCGAGGCTTGAAGAGTGGAGAGAACTTTAAGT
587777091	102942	NM_052844.3(WDR34):c.1022C>T (p.Ala341Val)	WDR34	Feb 10, 2014	MedGen:C3810200,OMIM:615633	Short-rib thoracic dysplasia 11 with or without polydactyly	germline	9	128634881	GGGAGACCGAGGTGGGCGCCACGGCAGTGGCCTTCTCCAGCTTTGACCCTAGGCTGTTCAT
794727281	192419	NM_006177.3(NRL):c.151C>T (p.Pro51Ser)	NRL	Mar 27, 2015	MedGen:C1834329,OMIM:613750	Retinitis pigmentosa 27	germline	14	24082698	TCCACACCTTACAGCTCAGTGCCTCCTTCACCCACCTTCAGTGAACCAGGCATGGTGGGGG
121434534	32854	NM_031226.2(CYP19A1):c.1303C>T (p.Arg435Cys)	CYP19A1	Dec 15, 1993	MedGen:C0878680,OMIM:613546,Orphanet:ORPHA91	Aromatase deficiency	germline	15	51211017	AGGTACTTTCAGCCATTTGGCTTTGGGCCCCGTGGCTGTGCAGGAAAGTACATCGCCATGG
876659614	236166	NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter)	BRCA1	Jun 04, 2015	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43099880	TGCTTGACTGTTCTTTACCATACTGTTTAGCAGGAAACCAGTCTCAGTGTCCAACTCTCTA
-1	434162	NM_000384.2(APOB):c.13114C>T (p.Gln4372Ter)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21002308	TTTATTCAAAACGAGCTTCAGGAAGCTTCTCAAGAGTTACAGCAGATCCATCAATACATTA
267608472	153552	NM_003159.2(CDKL5):c.400C>T (p.Arg134Ter)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	germline;unknown	X	18579965	CACTGGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAA
61753038	105320	NM_000350.2(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4	Aug 16, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94005470	CGAGAACATCTTTACCTTTATGCCCGGCTTCGAGGTGTACCAGCAGAAGAAATCGAAAAGG
45517412	58633	NM_000548.4(TSC2):c.5227C>T (p.Arg1743Trp)	TSC2	Aug 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2088293	ACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGC
121908367	20189	NM_020632.2(ATP6V0A4):c.2257C>T (p.Gln753Ter)	ATP6V0A4	Sep 01, 2000	MedGen:C1864498,OMIM:602722,Orphanet:ORPHA402041	Renal tubular acidosis, distal, autosomal recessive	germline	7	138715764	CGGCTCTGGGCCCTCAGCCTGGCTCATGCACGTGAGTGAGCAGCCCATCGGGGGGACAGTC
119466002	18055	NM_176824.2(BBS7):c.632C>T (p.Thr211Ile)	BBS7	Jul 24, 2017	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:CN237793	Bardet-Biedl syndrome;Bardet-Biedl syndrome 1/7, digenic	germline	4	121854790	GTGACTCTGGAGAAGACCTTTTGTTTGGGACATCAGACGGAAAACTTGCGCTTATACAGAT
111033348	19869	NM_000441.1(SLC26A4):c.578C>T (p.Thr193Ile)	SLC26A4	Feb 19, 2016	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome	germline	7	107674326	CAGCTAGAGTCCTGATTGCCAGTGCCCTGACTCTGCTGGTTGGAATTATACAGGTAATGAA
869312892	226683	NM_139276.2(STAT3):c.2147C>T (p.Thr716Met)	STAT3	Jun 14, 2016	MedGen:C4014795,OMIM:615952,Orphanet:ORPHA438159;MedGen:CN517202	Autoimmune disease, multisystem, infantile-onset, 1;not provided	germline;inherited;unknown	17	42316899	CCCTCCTGCTGCCCCCCATTTCCTACAGAACGACCTGCAGCAATACCATTGACCTGCCGAT
1064793762	409506	NM_001009944.2(PKD1):c.6913C>T (p.Gln2305Ter)	PKD1	Jul 24, 2015	MedGen:CN517202	not provided	germline	16	2108254	AGTTTCCACTGGGCCTGTGTGGCTTCGACACAGGTCAGTGCGTGGCAGGGCCGTCCTCCAT
781469274	395365	NM_001369.2(DNAH5):c.8314C>T (p.Arg2772Ter)	DNAH5	Aug 09, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13792128	TCTGTGACAAAATTGGTGCCTCTGACACGCCGACTATGGCAGATGACCAAGATTAAAATGC
121912672	33380	NM_005199.4(CHRNG):c.136C>T (p.Arg46Ter)	CHRNG	Aug 01, 2006	MedGen:C0265261,OMIM:265000,Orphanet:ORPHA294060	Multiple pterygium syndrome Escobar type	germline	2	232540072	AACTACGACCCCAACCTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGA
121918222	16262	NM_006363.5(SEC23B):c.40C>T (p.Arg14Trp)	SEC23B	Oct 10, 2016	MedGen:C1306589,OMIM:224100,Orphanet:ORPHA98873,SNOMED CT:68870007;MedGen:CN517202	Congenital dyserythropoietic anemia, type II;not provided	germline	20	18510875	TACCTGGAGTTCATCCAGCAGAATGAAGAACGGGATGGTGTGCGTTTTAGTTGGAACGTGT
61755771	28218	NM_000322.4(PRPH2):c.136C>T (p.Arg46Ter)	PRPH2	Jan 01, 1995	MedGen:C1842475,OMIM:608133;MedGen:CN517202	Retinitis pigmentosa 7;not provided	germline	6	42722199	AGCCTAGGACTGTTCCTGAAGATTGAACTCCGAAAGAGGAGCGATGTGATGAATAATTCTG
2606921	427069	NM_001171.5(ABCC6):c.473C>T (p.Ala158Val)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16219555	CTACCAACGCTGCCCAGCAGGCCTCCGGAGCGGTAAGTCGGGGCGTGGGCCACCCTGGGAA
796052995	201523	NM_001165963.1(SCN1A):c.3607C>T (p.Gln1203Ter)	SCN1A	Sep 07, 2012	MedGen:CN517202	not provided	germline	2	166013842	CAAATCAATGTGGAAGAAGGCAGAGGAAAACAATGGTGGAACCTGAGAAGGACGTGTTTCC
137853292	28111	NM_000321.2(RB1):c.1700C>T (p.Ser567Leu)	RB1	Dec 21, 1989	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	germline	13	48452997	TTTTAATTTCATCATGTTTCATATAGGATTCACCTTTATTTGATCTTATTAAACAATCAAA
878854400	227486	NM_000523.3(HOXD13):c.742C>T (p.Gln248Ter)	HOXD13	Aug 12, 2016	MedGen:C2699746,OMIM:186000,Orphanet:ORPHA93403	Synpolydactyly 1	germline	2	176093632	TGGAACAGCCAGGTGTACTGCACCAAGGACCAGCCACAGGGGTCCCACTTTTGGAAATCTT
397508500	68322	NM_000492.3(CFTR):c.3124C>T (p.Gln1042Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117610654	TATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAGGTATGACAGTGAATG
111033571	22390	NM_012210.3(TRIM32):c.388C>T (p.Pro130Ser)	TRIM32	Sep 02, 2015	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C1859569,OMIM:615988	Bardet-Biedl syndrome;Bardet-Biedl syndrome 11	germline	9	116698130	TGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAG
121964988	27004	NM_000108.4(DLD):c.1463C>T (p.Pro488Leu)	DLD	Jun 01, 1993	MedGen:CN043137,OMIM:246900	Maple syrup urine disease, type 3	germline	7	107919098	AAGATATAGCTAGAGTCTGTCATGCACATCCGGTAATTATTAACAACATATAGAATTGATG
121912708	33034	NM_001182.4(ALDH7A1):c.328C>T (p.Arg110Ter)	ALDH7A1	Jun 28, 2017	MedGen:C1849508,OMIM:266100;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0002119,MedGen:C3278923;MedGen:CN517202	Pyridoxine-dependent epilepsy;Seizures;Ventriculomegaly;not provided	germline;unknown	5	126583997	GCATTCTTTTCTTAGATTCCTGCTCCAAAACGAGGAGAAATAGTAAGACAGATTGGCGATG
765061840	237526	NM_025137.3(SPG11):c.1621C>T (p.Gln541Ter)	SPG11	Apr 14, 2016	MedGen:C4225253,OMIM:616668,Orphanet:ORPHA466775	Charcot-Marie-Tooth disease, axonal type 2X	maternal	15	44633619	TCCTCATTTCAGGCCGGGATAGAAAATCGTCAGCTGGACACAGTAAATTTCTTTTTGAAGA
587777497	143212	NM_021116.3(ADCY1):c.3112C>T (p.Arg1038Ter)	ADCY1	Nov 20, 2014	MedGen:C1857809,OMIM:610154	Deafness, autosomal recessive 44	germline	7	45713747	CTGAGAAGGTGCCCCTACCACTTTGTGTGCCGAGGCAAAGTCAGTGTCAAGGGCAAAGGCG
104894837	25765	NM_000169.2(GLA):c.436C>T (p.Pro146Ser)	GLA	Jun 16, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101401743	GATGTTGGAAATAAAACCTGCGCAGGCTTCCCTGGGAGTTTTGGATACTACGACATTGATG
267607162	22002	NM_006086.3(TUBB3):c.784C>T (p.Arg262Cys)	TUBB3	Jan 14, 2016	MedGen:C2748801,OMIM:600638;MedGen:CN517202	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;not provided	germline	16	89935235	AAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCC
886039260	259355	NM_001242896.1(DEPDC5):c.1393C>T (p.Gln465Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31810589	ATCCAAGTAGATTATGACGCCTATGACGCTCAAGTGTTCAGGCTGCCCGGCCCATCCCGGG
878852989	236937	NM_000411.7(HLCS):c.2005C>T (p.His669Tyr)	HLCS	Jan 05, 2016	MedGen:CN517202	not provided	germline	21	36756546	GTCCTTCCCCTTTATTACCGATACTGGGTCCACAGGTCAGTGCTGGCTCATCTTCATTCTT
794729287	198990	NM_001256850.1(TTN):c.72514C>T (p.Gln24172Ter)	TTN	Aug 08, 2014	MedGen:CN517202	not provided	germline	2	178568695	GCATTCAGTAGTTACAGTGTACAGGTTGGCCAAGATTTGAAAATAGAAGTGCCAATTTCTG
1057516038	353908	NM_001244189.1(KIAA0586):c.949C>T (p.Gln317Ter)	KIAA0586	Aug 28, 2015	MedGen:C4084822,OMIM:616490	Joubert syndrome 23	maternal	14	58444158	CACATAAGGCATCTTGAAAAGTTACAACAACAACAAATAGATATTCAGGTATCTGTAATAA
1064793753	407301	NM_000127.2(EXT1):c.250C>T (p.Gln84Ter)	EXT1	Jul 13, 2015	MedGen:CN517202	not provided	germline	8	118110797	GAGGATTCCAGCGTGCACATTTCCCCCCGGCAGAAGCGAGATGCCAACTCCAGCATCTACA
190057175	259673	NM_017739.3(POMGNT1):c.636C>T (p.Phe212=)	POMGNT1	Aug 04, 2017	MedGen:CN517202	not provided	germline	1	46194860	TGCCCTGGGCTGGAGGGACACATGGGCCTTCGTGGGACGAAAAGGAGGTGCCGGCATCAGA
1064796720	407536	NM_003165.3(STXBP1):c.748C>T (p.Gln250Ter)	STXBP1	Mar 14, 2017	MedGen:CN517202	not provided	germline	9	127666250	AGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCG
759799287	419008	NM_025139.5(ARMC9):c.1027C>T (p.Arg343Cys)	ARMC9	Aug 16, 2017	MedGen:CN262509;MedGen:CN399089,OMIM:617622	ARMC9-related Joubert syndrome;JOUBERT SYNDROME 30	germline;maternal	2	231262306	TCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGA
767595964	456982	NM_001277115.1(DNAH11):c.6130C>T (p.Arg2044Ter)	DNAH11	Mar 09, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21698163	GAAGGTTTTGTGGATGCGCGTGCATTAGCCCGAAAGTTCATTACGTTGTACACGCTTTGCA
118204437	15739	NM_000512.4(GALNS):c.1156C>T (p.Arg386Cys)	GALNS	Apr 13, 2017	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005;MedGen:CN517202	Mucopolysaccharidosis, MPS-IV-A;not provided	germline	16	88824853	CTCCCATCCCACAGGCCTATCTTCTATTACCGTGGCGACACGCTGATGGCGGCCACCCTCG
794726797	187851	NM_001165963.1(SCN1A):c.1025C>T (p.Ala342Val)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166048889	ATGCACTACTATGTGGAAATAGCTCTGATGCAGGGTAAGTCAATAATTTGTGTGTATCTGT
1057519734	362862	NM_002755.3(MAP2K1):c.790C>T (p.Pro264Ser)	MAP2K1	Oct 02, 2014	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	15	66485086	GTAGAGATGGCGGTTGGGAGGTATCCCATCCCTCCTCCAGATGCCAAGGAGCTGGAGCTGA
756489804	200680	NM_138413.3(HOGA1):c.839C>T (p.Thr280Ile)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97611514	CTCTTCTAACAGGCCCTGCTTTGCAGGTGACCCGGCGCTTTGGGATCCCAGGGCTGAAGAA
-1	445279	NM_130838.2(UBE3A):c.7C>T (p.Arg3Ter)	UBE3A	Oct 23, 2017	MedGen:CN517202	not provided	germline	15	25375759	GCTTATTGTTTGAATGTTTGGTACAGGAAGCGAGCAGCTGCAAAGCATCTAATAGAACGCT
121918537	23802	NM_006204.3(PDE6C):c.85C>T (p.Arg29Trp)	PDE6C	Jun 27, 2013	MedGen:C2751308,OMIM:613093	Cone dystrophy 4	germline	10	93612810	TTTGCCAAGGAGTACTTTGACAGGAAGTTGCGGGTGGAGGTGCTGGGAGAAATCTTCAAGA
878853137	237494	NM_022068.3(PIEZO2):c.7067C>T (p.Thr2356Met)	PIEZO2	Jun 04, 2014	MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154	Oculomelic amyoplasia	inherited	18	10689746	AGCTGAGGGCAGTGATGGACTGGGTGTGGACGGACACAACTTTGAGCCTGTCCAGCTGGAT
886039395	260344	NM_000216.3(ANOS1):c.1891C>T (p.Arg631Ter)	ANOS1	Jul 16, 2015	MedGen:CN517202	not provided	germline	X	8534412	GTGCCCAATCTGAGACCATCTACTCTTTACCGACTGGAAGTGCAAGTGCTGACCCCAGGAG
193922781	136891	NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe)	RYR1	Jun 01, 2014	MedGen:CN031421,OMIM:145600;MedGen:CN517202	Malignant hyperthermia, susceptibility to, 1;not provided	germline;unknown	19	38485838	ACCTCGAAAGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCAC
28935491	265267	NM_000169.2(GLA):c.979C>T (p.Gln327Ter)	GLA	Aug 19, 2015	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398390	ATTGCCATCAATCAGGACCCCTTGGGCAAGCAAGGGTACCAGCTTAGACAGGTAAATAAGA
151340621	26836	NM_000084.4(CLCN5):c.1942C>T (p.Arg648Ter)	CLCN5	Sep 25, 2014	MedGen:C1848336,OMIM:300009	Dent disease 1	germline	X	50090678	TTTTTTCCTTCTGTTTGAATAGAAAATGCTCGAAAGAAACAGGATGGGGTTGTTAGCACTT
137852873	17418	NM_000709.3(BCKDHA):c.793C>T (p.Arg265Trp)	BCKDHA	Sep 12, 2016	MedGen:C1855369;MedGen:CN517202	Maple syrup urine disease type 1A;not provided	germline	19	41422310	ACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCA
62635654	20771	NM_201253.2(CRB1):c.2290C>T (p.Arg764Cys)	CRB1	Oct 01, 1999	MedGen:C1838647,OMIM:600105;MedGen:CN517202	Retinitis pigmentosa 12;not provided	germline	1	197427615	GCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAA
201787275	260478	NR_033294.1(SNORD118):n.145C>T	SNORD118	Oct 10, 2016	MedGen:C3281200,OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	germline	17	8173444	CCCTGATTGCTCCTGTCTGATTCTTTCTGACGATCACTTACATTTGTGTTATGCTGATTAG
866395428	431718	NM_181714.3(LCA5):c.838C>T (p.Arg280Ter)	LCA5	Jan 01, 2015	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Leber congenital amaurosis;Retinal dystrophy	unknown	6	79493633	GAAAATAAAGTTCTTCAAAAGGAGGTACAGCGACTATATCACAAATTAAAGGTAAGTATTT
587777211	108170	NM_004188.6(GFI1B):c.859C>T (p.Gln287Ter)	GFI1B	Sep 01, 1968	MedGen:C1861194,OMIM:187900	Platelet-type bleeding disorder 17	germline	9	132990916	AAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCA
104893905	24049	NM_004387.3(NKX2-5):c.646C>T (p.Arg216Cys)	NKX2-5	Nov 20, 2001	Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED CT:86299006	Tetralogy of Fallot	germline	5	173232898	GGGCTGCCCCCGCCGCCGCCGCCGCCTGCCCGCAGGATCGCGGTGCCAGTGCTGGTGCGCG
886039695	259736	NM_014946.3(SPAST):c.508C>T (p.Gln170Ter)	SPAST	Aug 24, 2016	MedGen:CN517202	not provided	germline	2	32089527	ATTTTAATTAATTTTTTTCTTTCAGGTGAACAGTGTGAAAGAGCTAGACGCCTTCAAGCTA
730880578	179227	NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter)	MYBPC3	May 10, 2013	MedGen:CN517202	not provided	germline	11	47335054	CCTGTTACCACCACGGAGCCGGTGACAGTGCAGGAGATCCTGCGTGAGTGCCCCTTTGTGC
587777495	143205	NM_021072.3(HCN1):c.835C>T (p.His279Tyr)	HCN1	Jun 01, 2014	MedGen:C4014531,OMIM:615871	Epileptic encephalopathy, early infantile, 24	germline	5	45645199	TTACGACTTTCAAGGTTAATTAGATACATACATCAATGGGAAGAGGTAAGATGCATCTTTT
28941475	17329	NM_015046.5(SETX):c.8C>T (p.Thr3Ile)	SETX	Aug 02, 2016	MedGen:C1865409,OMIM:602433,Orphanet:ORPHA357043;MedGen:CN517202	Amyotrophic lateral sclerosis type 4;not provided	germline	9	132349421	TCTTTTCTGGCTGTAGGTACAGAATGAGCACATGTTGTTGGTGTACGCCAGGTGGTGCTTC
398123614	99655	NM_001110556.1(FLNA):c.2761C>T (p.Arg921Ter)	FLNA	Apr 08, 2013	MedGen:C0265251,OMIM:311300,Orphanet:ORPHA90650,SNOMED CT:54036001;MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Oto-palato-digital syndrome, type I;Periventricular nodular heterotopia 1	germline	X	154362044	TTCTCAGGACTCACCAAGGGGGATGCAGTGCGAGATGTGGACATCATCGACCACCATGACA
137854503	24063	NM_178138.5(LHX3):c.629C>T (p.Ala210Val)	LHX3	May 01, 2007	MedGen:C1857330,OMIM:221750	Pituitary hormone deficiency, combined 3	germline	9	136198798	GCCCCCAGGTTTGGTTCCAGAACCGCCGGGCCAAGGAGAAGAGGCTGAAGAAGGACGCCGG
587783215	167624	NM_018136.4(ASPM):c.1138C>T (p.Gln380Ter)	ASPM	Feb 08, 2013	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197143114	TCTTTCATAAAAGATAATTATGGACTAAATCAGGATCTAGAATCAGAGTCAGTTAATCCTA
886040303	261566	NM_007294.3(BRCA1):c.5542C>T (p.Gln1848Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43045728	GTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGA
1131692203	424315	NM_000527.4(LDLR):c.1081C>T (p.Pro361Ser)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111534	TCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACC
201754030	165472	NM_005726.5(TSFM):c.856C>T (p.Gln286Ter)	TSFM	Jun 23, 2017	MedGen:C1864840,OMIM:610505,Orphanet:ORPHA168566;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Combined oxidative phosphorylation deficiency 3;Primary dilated cardiomyopathy;not provided	germline	12	57796461	GGGGGAGAGGCAGAGACTAAGATGCTGTCCCAGCCGTATTTGCTGGATCCCTCCATTACCT
1085307899	415489	NM_006662.2(SRCAP):c.8242C>T (p.Arg2748Ter)	SRCAP	Sep 08, 2015	MedGen:CN517202	not provided	germline	16	30738282	CCAGGACAACCACCAGGCCCCAAAGTGCTTCGAAAGCTGCCAGGACGGCTGGTAACTGTGG
28937905	19267	NM_024301.4(FKRP):c.160C>T (p.Arg54Trp)	FKRP	Jan 01, 2004	MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	germline	19	46755610	GCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGC
863225078	214569	NM_001164144.2(CHAMP1):c.1945C>T (p.Gln649Ter)	CHAMP1	Oct 16, 2015	MedGen:CN517202	not provided	germline	13	114325787	ACAGATTTGGATGCGATGGATATTAAGGGCCAGGAATCAAGCAGTGATCAAGAGCAGGTTG
121917782	27138	NM_000196.3(HSD11B2):c.680C>T (p.Pro227Leu)	HSD11B2	Sep 23, 2011	MedGen:C4017360	Apparent mineralocorticoid excess, mild	germline	16	67436264	CCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGC
797044768	195213	NM_000169.2(GLA):c.916C>T (p.Gln306Ter)	GLA	May 12, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398453	ATGTCTAATGACCTCCGACACATCAGCCCTCAAGCCAAAGCTCTCCTTCAGGATAAGGACG
-1	447230	NM_170707.3(LMNA):c.592C>T (p.Gln198Ter)	LMNA	Jun 19, 2017	MedGen:CN043576	Charcot-Marie-Tooth disease, type 2	germline	1	156134481	CTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGA
1057518245	360639	NM_003688.3(CASK):c.2368C>T (p.Gln790Ter)	CASK	Nov 22, 2016	MedGen:CN517202	not provided	germline	X	41531144	GGAAAGAATTATTACTTTGTATCTCATGACCAAATGATGCAAGACATCTCTAATAACGAGT
587781545	150881	NM_000051.3(ATM):c.283C>T (p.Gln95Ter)	ATM	Jun 14, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108229275	TCAACACAAGCCTCCAGGCAGAAAAAGATGCAGGAAATCAGTAGTTTGGTCAAATACTTCA
864309693	213990	NM_012064.3(MIP):c.97C>T (p.Arg33Cys)	MIP	Jan 09, 2015	Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Congenital cataract	de novo	12	56454517	TATGTCTTCTTTGGGCTGGGGTCCTCACTGCGCTGGGCTCCTGGACCCCTGCATGTTCTGC
1131692333	424580	NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter)	HPS6	Jul 28, 2017	MedGen:C3888007,OMIM:614075	Hermansky-Pudlak syndrome 6	germline	10	102067512	ATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCC
180177294	200580	NM_000030.2(AGXT):c.907C>T (p.Gln303Ter)	AGXT	Nov 02, 2016	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240877597	GAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGG
1114167845	419344	NM_000251.2(MSH2):c.940C>T (p.Gln314Ter)	MSH2	Apr 14, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47414416	ATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAA
121918226	16266	NM_006363.5(SEC23B):c.649C>T (p.Arg217Ter)	SEC23B	Jan 30, 2014	MedGen:C1306589,OMIM:224100,Orphanet:ORPHA98873,SNOMED CT:68870007;MedGen:CN517202	Congenital dyserythropoietic anemia, type II;not provided	germline	20	18524980	ACCAAGCCAGCCATGCCCATGCAGCAAGCACGACCTGCACAACCACAGGAGCACCCTTTTG
104894701	20795	NM_032551.4(KISS1R):c.991C>T (p.Arg331Ter)	KISS1R	Oct 23, 2003	MedGen:C4016875	Hypogonadotropic hypogonadism 8 without anosmia	germline	19	920542	CTGCTCTACGCCTTCCTGGGCTCGCACTTCCGACAGGCCTTCCGCCGCGTCTGCCCCTGCG
587777192	106825	NM_005017.3(PCYT1A):c.847C>T (p.Arg283Ter)	PCYT1A	Mar 06, 2014	MedGen:C1837073,OMIM:608940,Orphanet:ORPHA85167	Spondylometaphyseal dysplasia with cone-rod dystrophy	germline	3	196239597	GACCTCATTCAGAAGTGGGAGGAGAAGTCCCGAGAATTCATTGGAAGTTTTCTGGAAATGT
763670293	259829	NM_032119.3(ADGRV1):c.10213C>T (p.Arg3405Ter)	ADGRV1	Jun 16, 2016	MedGen:CN517202	not provided	germline	5	90728720	AGCTTCGTGTTGCATCAAAAACTCCCTGTCCGAGGTGTGCTGACCGTGGCCTTGTTCAACA
730880028	178368	NM_006000.2(TUBA4A):c.643C>T (p.Arg215Cys)	TUBA4A	Oct 22, 2014	MedGen:C4016414	Amyotrophic lateral sclerosis 22 with frontotemporal dementia	germline	2	219251056	GACAACGAAGCAATCTATGACATCTGCCGCCGCAACCTAGACATCGAGCGCCCAACCTACA
886039330	259768	NM_000094.3(COL7A1):c.8329C>T (p.Arg2777Ter)	COL7A1	Jan 05, 2016	MedGen:CN517202	not provided	germline	3	48566539	ACATAGGGGCGGCCAGGGCCTGCCGGTCCTCGAGGCGAGAAGGGAGAAGCTGCACTGACGG
748486078	39546	NM_052872.3(IL17F):c.284C>T (p.Ser95Leu)	IL17F	Apr 01, 2011	MedGen:C3151405,OMIM:613956	Candidiasis, familial, 6	germline	6	52237139	GTGTCACTTGGGACCCCAACCGGTACCCCTCGGAAGTTGTACAGGCCCAGTGTAGGAACTT
28928870	31288	NM_000145.3(FSHR):c.1346C>T (p.Thr449Ile)	FSHR	Aug 21, 2003	MedGen:C0085083,OMIM:608115,Orphanet:ORPHA64739,SNOMED CT:129635004	Ovarian hyperstimulation syndrome	germline	2	48963475	GGGCAGGCTGTGATGCTGCTGGCTTTTTCACTGTCTTTGCCAGTGAGCTGTCAGTCTACAC
786204492	186770	NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	unknown	8	86671046	GCTCCTGTTATAAATGAGTATGCCGATGCCCAGCTACACAACCTGGTGAAAAGAATGCGTC
121434315	16852	NM_152594.2(SPRED1):c.190C>T (p.Arg64Ter)	SPRED1	Jul 01, 2009	MedGen:C1969623,OMIM:611431,Orphanet:ORPHA137605	Legius syndrome	germline	15	38299530	GGCTGTGCTGACTTTTTTATCCGTGGAGAGCGACTCAGGGACAAAATGGTAATGAATAATG
119103281	17239	NM_024729.3(MYH14):c.359C>T (p.Ser120Leu)	MYH14	Mar 27, 2017	MedGen:C1833503,OMIM:600652;MedGen:CN517202	Deafness, autosomal dominant 4;not provided	germline	19	50210724	TGGCCGAGCTGACCTGCCTCAACGAGGCCTCGGTCCTGCACAACCTCCGGGAGCGGTACTA
1057519285	361782	NM_014727.2(KMT2B):c.7549C>T (p.Arg2517Trp)	KMT2B	Feb 01, 2017	MedGen:C4310633,OMIM:617284	Dystonia 28, childhood-onset	germline	19	35737262	CATGGGGCTGCTCGGGCAGAGGTCTATCTCCGGTGAGAGGTCTGGGGTGTGATGCCTGGGT
786200949	185949	NM_001244008.1(KIF1A):c.206C>T (p.Ser69Leu)	KIF1A	Oct 27, 2014	MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006	Hereditary spastic paraplegia	de novo;inherited	2	240788208	TCCTCCAGCCTGAGGACATCAACTACGCGTCGCAGAAGCAGGTGTACCGGGACATCGGCGA
587777244	125903	NM_139242.3(MTFMT):c.452C>T (p.Pro151Leu)	MTFMT	Mar 01, 2014	MedGen:C3554182,OMIM:614947,Orphanet:ORPHA319524	Combined oxidative phosphorylation deficiency 15	germline	15	65023762	GCATATTGAATGTTCATCCCAGTTGCCTCCCGAGATGGCGTGGCCCAGCCCCTGTAATCCA
373905859	39956	NM_025099.5(CTC1):c.2518C>T (p.Arg840Trp)	CTC1	Jan 22, 2012	MedGen:C2677299,OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts 1	germline	17	8231427	TTTGAAAAGGATGGTTCATCCTGCATATCTCGGCGTCCTCTGGAGTTGGCTGGCTGTGCAT
111033774	36612	NM_000155.3(GALT):c.865C>T (p.Leu289Phe)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649042	ATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGG
1064792999	404642	NM_205768.2(ZBTB18):c.583C>T (p.Arg195Ter)	ZBTB18	Apr 14, 2017	Gene:100190984,MedGen:C2676727,OMIM:612337	Mental retardation, autosomal dominant 22	germline	1	244054357	TTGGCGGCCGAGCCTGGGAACATGTGGATGCGATTGCCCTCAGACTCAGCAGGCATCCCCC
121909388	16344	NM_001174089.1(SLC4A11):c.1418C>T (p.Ser473Leu)	SLC4A11	Mar 01, 2008	MedGen:C0544008	Corneal endothelial dystrophy	germline	20	3230258	TCTGATGAGGCTCATGGCCTCCTGGCAGGTCGACGGAGGAGATCATCGCCCTCTTCATTTC
104894672	22457	NM_000554.5(CRX):c.121C>T (p.Arg41Trp)	CRX	Dec 01, 1997	MedGen:CN074280,OMIM:120970;MedGen:CN517202	Cone-rod dystrophy 2;not provided	germline	19	47836263	CCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAAC
137852725	76644	NM_024757.4(EHMT1):c.3229C>T (p.Gln1077Ter)	EHMT1	Oct 05, 2010	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Chromosome 9q deletion syndrome	not provided	9	137814479	GACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCTCAGCATGCGCTGCTGGTACGACAAGG
200089714	230227	NM_002180.2(IGHMBP2):c.127C>T (p.Arg43Ter)	IGHMBP2	Mar 03, 2017	MedGen:CN169884;MedGen:C1858517,OMIM:604320,Orphanet:ORPHA98920;MedGen:CN517202	Distal hereditary motor neuronopathy;Spinal muscular atrophy, distal, autosomal recessive, 1;not provided	germline	11	68906109	GAGAACATCTCTCTGAAAGAGCTCCAGAGCCGAGGCGTGTGTTTGCTGAAGCTGCAGGTAT
80338686	16937	NM_000060.4(BTD):c.1612C>T (p.Arg538Cys)	BTD	Jun 10, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	germline;unknown	3	15645468	TCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCTTGTATGAGAGGGACTAGGAAAAGTGTG
80356864	68974	NM_007294.3(BRCA1):c.160C>T (p.Gln54Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43106508	TATAGATTTTGCATGCTGAAACTTCTCAACCAGAAGAAAGGGCCTTCACAGTGTCCTTTAT
121909026	22219	NM_000492.3(CFTR):c.3937C>T (p.Gln1313Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117652905	AACTTGGATCCCTATGAACAGTGGAGTGATCAAGAAATATGGAAAGTTGCAGATGAGGTAA
756613387	434242	NM_000527.4(LDLR):c.666C>T (p.Cys222=)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105572	CAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGT
1052484950	431530	NM_022124.5(CDH23):c.9412C>T (p.Arg3138Trp)	CDH23	Sep 26, 2017	MedGen:CN432550,OMIM:617540	PITUITARY ADENOMA 5, MULTIPLE TYPES	germline	10	71812511	GCCAACCCTGTGTGGCTGGATCCCTTCTGTCGGAACCTGGAGCTGGCCGCCCAGGCGGAGC
730882029	180988	NM_000546.5(TP53):c.1024C>T (p.Arg342Ter)	TP53	Sep 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;not provided	germline	17	7670685	ATCCGTGGGCGTGAGCGCTTCGAGATGTTCCGAGAGCTGAATGAGGCCTTGGAACTCAAGG
796052128	200985	NM_001244189.1(KIAA0586):c.1159C>T (p.Gln387Ter)	KIAA0586	Sep 01, 2015	MedGen:C4084822,OMIM:616490	Joubert syndrome 23	germline;unknown	14	58450617	AAAGAAGTTGAAGATACGAGTTTTGATAAACAGAAATCTCCTTTGGAGACACCAGCACCTC
752792782	483117	NM_178170.2(NEK8):c.379C>T (p.Arg127Ter)	NEK8	Feb 14, 2018	MedGen:C3809434,OMIM:615415	Renal-hepatic-pancreatic dysplasia 2	germline	17	28734897	CATCATGTGCACACCCACCTCATCCTGCACCGAGACCTCAAGACCCAGAACATCCTGCTTG
1064797083	411533	NM_002017.4(FLI1):c.1009C>T (p.Arg337Trp)	FLI1	Apr 25, 2017	MedGen:CN242283,OMIM:617443	Bleeding disorder, platelet-type, 21	germline	11	128810638	AAGCCCAACATGAATTACGACAAGCTGAGCCGGGCCCTCCGTTATTACTATGATAAAAACA
587779527	106974	NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter)	COL3A1	Jun 19, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188997189	CTTTAGGGTGCTCCTGGTAAGAATGGAGAACGAGGTGGCCCTGGAGGACCTGGCCCTCAGG
1029096863	453275	NM_172250.2(MMAA):c.586C>T (p.Arg196Ter)	MMAA	Dec 22, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145646009	GTTTTAGGATCACTCTTAGGTGATAAAACCCGAATGACTGAGTTATCAAGAGATATGAATG
587784359	169811	NM_003560.3(PLA2G6):c.673C>T (p.His225Tyr)	PLA2G6	Aug 10, 2015	Human Phenotype Ontology:HP:0012675,MedGen:C4021076;MedGen:CN517202	Iron accumulation in brain;not provided	germline	22	38140106	CAGGTGAATAACCAAGGGCTGACCCCGCTGCACCTGGCCTGCCAGCTGGGGAAGCAGGAGA
863225074	214571	NM_032436.3(CHAMP1):c.1969C>T (p.Gln657Ter)	CHAMP1	Jan 15, 2015	MedGen:CN517202	not provided	germline	13	114325811	AAGGGCCAGGAATCAAGCAGTGATCAAGAGCAGGTTGATGTGGAATCCATTGATTTTAGCA
387906654	38752	NM_006749.4(SLC20A2):c.1784C>T (p.Thr595Met)	SLC20A2	Feb 12, 2012	Gene:23706,MedGen:C0393590,OMIM:213600,Orphanet:ORPHA1980,SNOMED CT:110997000	Idiopathic basal ganglia calcification 1	germline	8	42428768	CCTCCAACATCGGGCTTCCAGTCAGCACCACGCACTGTAAGGTAGGCCCCTGCTAGCCGGG
876658862	233534	NM_000535.6(PMS2):c.1198C>T (p.Gln400Ter)	PMS2	Mar 24, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	5987567	GCGGATTTGGAAAAGCCCATGGTAGAAAAGCAGGATCAATCCCCTTCATTAAGGACTGGAG
128625228	26249	NM_004006.2(DMD):c.5551C>T (p.Gln1851Ter)	DMD	Sep 16, 2015	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32345978	GAGAGAAAGCGAGAGGAAATAAAGATAAAACAGCAGCTGTTACAGACAAAACATAATGCTC
199848801	76706	NM_194248.2(OTOF):c.3400C>T (p.Arg1134Ter)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26473999	ATGGGCATCCGGCCCGTGCTCAGCAAGTACCGAGTGGAGGTGCGAGGGCTCTGTGTGGCCC
118192164	28022	NM_000540.2(RYR1):c.10579C>T (p.Pro3527Ser)	RYR1	Jun 01, 2002	MedGen:C4016368;MedGen:CN517202	Central core disease, autosomal recessive;not provided	germline;unknown	19	38525455	ATGCTGCCCATCGGCCTGAATATGTGTGCGCCCACCGACCAAGACCTCATCACGCTGGCCA
397516259	179689	NM_000257.3(MYH7):c.610C>T (p.Arg204Cys)	MYH7	Jun 07, 2013	MedGen:CN517202	not provided	germline	14	23431790	TACTTTGCTGTTATTGCAGCCATTGGGGACCGCAGCAAGAAGGACCAGAGCCCGGGCAAGG
72551322	19293	NM_000784.3(CYP27A1):c.1435C>T (p.Arg479Cys)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	germline	2	218814716	TTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTAC
104894366	48924	NM_004985.4(KRAS):c.101C>T (p.Pro34Leu)	KRAS	Apr 03, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	12	25245284	TTCAGAATCATTTTGTGGACGAATATGATCCAACAATAGAGGTAAATCTTGTTTTAATATG
137852285	25566	NM_000292.2(PHKA2):c.3025C>T (p.Gln1009Ter)	PHKA2	Jan 01, 1995	MedGen:C0017927,OMIM:306000	Glycogen storage disease type IXa1	germline	X	18901487	GGCATTAACAGACTGAGGAGTGAAATGAAACAGGTAAGAACACCTCAGTGGCAGCGAGGGA
549138385	409850	NM_016239.3(MYO15A):c.4519C>T (p.Arg1507Ter)	MYO15A	Mar 06, 2017	MedGen:CN517202	not provided	germline	17	18135747	GCACAGGAGGTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGC
111033628	25938	NM_002351.4(SH2D1A):c.172C>T (p.Gln58Ter)	SH2D1A	Oct 01, 1998	MedGen:C1868674,OMIM:308240	Lymphoproliferative syndrome 1, X-linked	germline	X	124365795	CACGGTTACATTTATACATACCGAGTGTCCCAGACAGAAACAGGTTCTTGGAGTGCTGAGG
754912778	198433	NM_004572.3(PKP2):c.1063C>T (p.Arg355Ter)	PKP2	Dec 15, 2015	MedGen:CN517202	not provided	germline	12	32869034	AGGAATGCAGACATGGAGATGACTCTGGAGCGAGCAGTGAGTATGCTCGAGGCAGACCACA
-1	227574	NM_019597.4(HNRNPH2):c.626C>T (p.Pro209Leu)	HNRNPH2	Oct 07, 2016	MedGen:C4310814,OMIM:300986;MedGen:CN517202	Mental retardation, X-linked, syndromic, Bain type;not provided	germline	X	101412614	GAAAGCTCATGGCTATGCAGCGGCCAGGTCCCTATGATAGGCCGGGGGCTGGCAGAGGGTA
80356952	68980	NM_007294.3(BRCA1):c.1630C>T (p.Gln544Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43093901	CAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAGTGGTCATG
786204455	187023	NM_000271.4(NPC1):c.3175C>T (p.Arg1059Ter)	NPC1	Sep 29, 2015	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline;unknown	18	23536743	GCTGACTTTATTGACGCTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACCA
766773277	209179	NM_006517.4(SLC16A2):c.940C>T (p.Arg314Ter)	SLC16A2	Jun 11, 2014	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	germline	X	74524723	CTGGCTCAGCTCAGGAAGTACTTCAACATGCGAGTGTTCCGCCAACGCACTTACCGCATCT
-1	428500	NM_000165.4(GJA1):c.119C>T (p.Ala40Val)	GJA1	Jan 28, 2016	MedGen:C0812437,OMIM:164200	Oculodentodigital dysplasia	germline	6	121446966	TCATTTTCCGAATCCTGCTGCTGGGGACAGCGGTTGAGTCAGCCTGGGGAGATGAGCAGTC
397515401	48068	NM_015338.5(ASXL1):c.2893C>T (p.Arg965Ter)	ASXL1	May 25, 2016	MedGen:C0796232,OMIM:605039;MedGen:CN517202	C-like syndrome;not provided	germline	20	32435605	AGCCTTACTTCACTCTGGACTGTGCCATCTCGAGGAGGCAGTGACAGCAATGGCAGTTACT
-1	427094	NM_001171.5(ABCC6):c.46C>T (p.Gln16Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16221822	GTCCTCTTTGTGTTCCCTCAGGTCTGGAACCAGACAGAGCCTGAACCTGCCGCCACCAGCC
587778803	76791	NM_000193.3(SHH):c.625C>T (p.Gln209Ter)	SHH	Aug 29, 2013	MedGen:C1840529,OMIM:142945	Holoprosencephaly 3	not provided	7	155803664	TTCCCGGGCTCGGCCACGGTGCACCTGGAGCAGGGCGGCACCAAGCTGGTGAAGGACCTGA
34126013	181693	NM_001128425.1(MUTYH):c.721C>T (p.Arg241Trp)	MUTYH	Jun 12, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline;unknown	1	45332458	GCAACCGGTGTGGTGGATGGCAACGTAGCACGGGTGCTGTGCCGTGTCCGAGCCATTGGTG
119476050	19391	NM_015915.4(ATL1):c.1243C>T (p.Arg415Trp)	ATL1	Aug 31, 2016	MeSH:D030342,MedGen:C0950123;MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984	Inborn genetic diseases;Spastic paraplegia 3	germline	14	50628154	GTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAA
77838305	466366	NM_145239.2(PRRT2):c.649C>T (p.Arg217Ter)	PRRT2	Jun 29, 2017	MedGen:C1868682,OMIM:128200	Dystonia 10	germline	16	29813703	AAATCCCCCCCAGCCAATGGGGCCCCCCCCCGAGTGCTGCAGCAGCTGGTTGAGGAGGATC
869025335	223738	NM_032833.4(PPP1R15B):c.1972C>T (p.Arg658Cys)	PPP1R15B	Feb 16, 2016	MedGen:C4225195,OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	germline	1	204406262	ACTGAGTATTATATAAGTGGTGATGAGGATCGCAAAGGACCATGGGAAGAATTTGCAAGGG
387906758	39038	NM_007315.3(STAT1):c.820C>T (p.Arg274Trp)	STAT1	Aug 21, 2012	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	de novo;germline	2	190995185	ACTATAGTTGCGGAGAGTCTGCAGCAAGTTCGGCAGCAGCTTAAAAAGTTGGAGGAATTGG
111033823	36667	NM_000155.3(GALT):c.1108C>T (p.Gln370Ter)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34650417	GCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCT
869025563	224663	NM_004425.3(ECM1):c.826C>T (p.Gln276Ter)	ECM1	Nov 19, 2015	MedGen:C0023795,OMIM:247100,Orphanet:ORPHA530,SNOMED CT:38692000	Lipid proteinosis	germline	1	150511574	CGGTTCTCCTGCTTCCAGGAGGAAGCTCCCCAGCCACACTACCAGCTCCGGGCCTGCCCCA
863225150	214372	NM_030578.3(B9D2):c.220C>T (p.Pro74Ser)	B9D2	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	19	41355008	TTCCCCTCTCTCTCCTTTCCTGCAGGCTGGCCCCGGCTCCATTTCCAGGTGTGGTCCCAGG
1057520652	377560	NM_004380.2(CREBBP):c.2302C>T (p.Arg768Ter)	CREBBP	Apr 19, 2015	MedGen:CN517202	not provided	germline	16	3773912	GTTGTCTCGTAGATGGCCATTTCTCCTTCCCGAATGCCTCAGCCTCCGAACATGATGGGTG
768943773	132070	NM_001111.4(ADAR):c.1630C>T (p.Arg544Ter)	ADAR	Feb 01, 2014	MedGen:C3539013,OMIM:615010	Aicardi-goutieres syndrome 6	germline	1	154598557	AGATTTAAATTCCAGGTTGTCATCAATGGCCGAGAGTTTCCCCCAGCTGAAGCTGGAAGCA
886042927	268944	NM_000070.2(CAPN3):c.1957C>T (p.Gln653Ter)	CAPN3	Nov 10, 2015	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42409345	AGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAG
727503864	177442	NM_004006.2(DMD):c.883C>T (p.Arg295Ter)	DMD	Jan 17, 2014	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32697947	GGATATGAGAGAACTTCTTCCCCTAAGCCTCGATTCAAGAGCTATGCCTACACACAGGCTG
45455296	58488	NM_000548.4(TSC2):c.4846C>T (p.Gln1616Ter)	TSC2	May 05, 2016	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2086376	TTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTG
753334568	136359	NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	TTN	Nov 18, 2016	MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464	Hereditary myopathy with early respiratory failure	germline	2	178546041	AGGAGAAGTGCACTTTAGCCTGGAGCCTTCCGCAGGAAGACGGAGGAGCAGAAATCACTCA
104893694	23362	NM_000388.3(CASR):c.452C>T (p.Thr151Met)	CASR	Oct 10, 1996	MedGen:C0342345,OMIM:601198	Hypocalcemia, autosomal dominant 1	germline	3	122257347	TGGTGGGAGCAACTGGCTCAGGCGTCTCCACGGCAGTGGCAAATCTGCTGGGGCTCTTCTA
202033121	55629	NM_033056.3(PCDH15):c.3316C>T (p.Arg1106Ter)	PCDH15	May 18, 2017	MedGen:C1836027,OMIM:609533;MedGen:C1832845,OMIM:601067;MedGen:C1865885,OMIM:602083;MedGen:C1865885,OMIM:602083	Deafness, autosomal recessive 23;Usher syndrome, type 1D;Usher syndrome, type 1F;Usher syndrome, type 1F	germline;unknown	10	53938872	GATTATGAGACCAGGACAAGCTATGTACTTCGAGTCCAAGCTGATTCCCTGGAAGTGGTCC
587779212	94671	NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter)	MSH6	Aug 26, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	2	47799466	CAGACTGAGACTCCAGAAATGATGGAGGCACGATGTAGAAAGATGGCACATATATCCAAGT
876661256	474637	NM_000535.6(PMS2):c.1345C>T (p.Gln449Ter)	PMS2	Mar 07, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	5987420	ACTCCAGAACCAAGAAGGAGCCCTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTT
121434641	23828	NM_000107.2(DDB2):c.937C>T (p.Arg313Ter)	DDB2	Aug 01, 1999	MedGen:C1848411,OMIM:278740,SNOMED CT:56048001	Xeroderma pigmentosum, group E	germline	11	47235326	CTCCTGACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGACTGCC
45479192	59259	NM_000548.4(TSC2):c.4762C>T (p.Gln1588Ter)	TSC2	Jun 13, 2013	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2086292	CTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGG
267606701	15318	NM_001159772.1(CANT1):c.898C>T (p.Arg300Cys)	CANT1	Nov 01, 2009	MedGen:C4012146,OMIM:251450	Desbuquois dysplasia 1	germline	17	78993858	GACACGCTGCAGCGCTGGTTCTTCCTGCCGCGCCGCGCCAGCCAGGAGCGCTACAGCGAGA
1060503102	391638	NM_021007.2(SCN2A):c.4876C>T (p.Arg1626Ter)	SCN2A	Sep 22, 2016	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927;MedGen:C3150987,OMIM:613721	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	germline	2	165388682	GAAAAGTATTTTGTGTCCCCTACCCTGTTCCGAGTGATCCGTCTTGCCAGGATTGGCCGAA
771328239	395200	NM_004168.3(SDHA):c.985C>T (p.Arg329Ter)	SDHA	Oct 12, 2016	MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208;MedGen:C3279992,OMIM:614165	Mitochondrial complex II deficiency;Paragangliomas 5	germline	5	233566	ATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGGCGT
-1	442072	NM_000068.3(CACNA1A):c.2746C>T (p.Gln916Ter)	CACNA1A	Dec 30, 2016	MedGen:CN517202	not provided	germline	19	13298899	GACCACCACGCCCGGGAGGGCAGCCTGGAGCAACCCGGGTTCTGGGAGGGCGAGGCCGAGC
387907155	40222	NM_017415.2(KLHL3):c.1193C>T (p.Ala398Val)	KLHL3	Mar 11, 2012	MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525	Pseudohypoaldosteronism type 2D	germline	5	137638979	GCGCAGCGGTGCTCAATGACTTGCTCTACGCAGTGGGAGGCTTTGATGGCAGTACTGGTAG
118203993	16322	NM_032790.3(ORAI1):c.271C>T (p.Arg91Trp)	ORAI1	Mar 21, 2008	MedGen:C2748568,OMIM:612782,Orphanet:ORPHA317428	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	germline	12	121627018	TTGAGCCGCGCCAAGCTTAAAGCCTCCAGCCGGACCTCGGCTCTGCTCTCCGGCTTCGCCA
120074157	17849	NM_025074.6(FRAS1):c.9013C>T (p.Gln3005Ter)	FRAS1	Jun 01, 2003	MedGen:C0265233,OMIM:219000,SNOMED CT:204102004	Cryptophthalmos syndrome	germline	4	78496859	CACGATGACTCCATGTTTGAGCCAGAGGAACAGTTCAGGGTCTACCTCGGCCTTCCTCTTG
111033580	27786	NM_000732.4(CD3D):c.202C>T (p.Arg68Ter)	CD3D	Nov 01, 2011	MedGen:C3810147,OMIM:615617	Immunodeficiency 19	germline	11	118340447	CTGGACCTGGGAAAACGCATCCTGGACCCACGAGGAATATATAGGTGTAATGGGACAGATA
755825264	486987	NM_004628.4(XPC):c.463C>T (p.Arg155Ter)	XPC	Jul 21, 2016	MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:44600005	Xeroderma pigmentosum	germline	3	14168330	GGTGACGTGAGAGAAAGTACAGCCTTCTCTCGATCTCTTCTGCCTGTGAAGCCAGTGGAGA
786204797	187139	NM_032790.3(ORAI1):c.412C>T (p.Leu138Phe)	ORAI1	Mar 30, 2015	MedGen:C4014557,OMIM:615883	Myopathy, tubular aggregate, 2	germline	12	121641149	ACAGTGCTGGTGGCTGTGCACCTGTTTGCGCTCATGATCAGCACCTGCATCCTGCCCAACA
758253791	247730	NM_014191.3(SCN8A):c.2003C>T (p.Thr668Ile)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51745907	TTGCTTTTCTTTTTTTTTTTTTAAAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCC
786204021	185776	NM_005957.4(MTHFR):c.1042C>T (p.Pro348Ser)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11794853	CTGTCCCCATCCTCACCCAGGCGTCCCCTACCCTGGGCTCTCAGCGCCCACCCCAAGCGCC
63749820	95691	NM_000249.3(MLH1):c.436C>T (p.Gln146Ter)	MLH1	Apr 07, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary nonpolyposis colon cancer;Lynch syndrome	germline	3	37007046	AAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTAC
786203821	184272	NM_024675.3(PALB2):c.940C>T (p.Gln314Ter)	PALB2	Oct 19, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	16	23635606	CTTGTAAATAAAGCTATAAGTAAAAGTGGCCAACTGCCCACAAGTTCTAATTTAGAGGCAA
587784563	168027	NM_014795.3(ZEB2):c.1956C>T (p.Tyr652=)	ZEB2	Feb 08, 2013	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144399231	GAAAGGAATGACAAGCCCCATCAACCCATACAAGGACCACATGTCTGTACTCAAAGCATAC
121434585	30961	NM_005272.3(GNAT2):c.235C>T (p.Gln79Ter)	GNAT2	Aug 01, 2002	MedGen:C1841721,OMIM:613856	Achromatopsia 4	germline	1	109610108	TTCAAGGCTATCATCTATGGAAATGTGCTGCAGTCCATCCTGGCTATCATCCGGGCCATGA
137852556	24917	NM_000451.3(SHOX):c.517C>T (p.Arg173Cys)	SHOX	May 01, 2016	MedGen:C0432230,OMIM:249700,Orphanet:ORPHA2632,SNOMED CT:38494008;MedGen:C0265309,OMIM:127300;MedGen:C1845118,OMIM:300582,Orphanet:ORPHA314795	Langer mesomelic dysplasia syndrome;Leri Weill dyschondrosteosis;Short stature, idiopathic, X-linked	de novo;germline	X	640851	GTTTGGTTCCAGAACCGGAGAGCCAAGTGCCGCAAACAAGAGAATCAGATGCATAAAGGTG
724160020	172151	NM_004208.3(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1	Aug 01, 2015	Gene:751798,MedGen:C1845095,OMIM:300614,Orphanet:ORPHA139583	Deafness, X-linked 5	germline;unknown	X	130136086	CTGGAAATAGACTCAGATTTTGGTGGCTTCCGGGTAAATGCAGAGCTACAAGCACGCTCTA
762754992	204363	NM_000083.2(CLCN1):c.1649C>T (p.Thr550Met)	CLCN1	Aug 06, 2015	MedGen:C0027127,Orphanet:ORPHA206973	Myotonia congenita	germline	7	143341995	TCTCCACAGCTGTGATTTGCTTCGAATTAACGGGTCAGATTGCTCACATCCTGCCCATGAT
368980595	233409	NM_005732.3(RAD50):c.3229C>T (p.Arg1077Ter)	RAD50	Jul 31, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132618134	ATAAAAAGAAATCATAATTTGGCATTAGGGCGACAGAAAGGTTATGAAGAAGAAATTATTC
119472029	19104	NM_014080.4(DUOX2):c.1126C>T (p.Arg376Trp)	DUOX2	Oct 01, 2005	MedGen:C1846632,OMIM:607200	Thyroid dyshormonogenesis 6	germline	15	45109895	GCTCTCAGGGTCTGCAACAACTACTGGATTCGGGAGGTCAGACTGGGGTCAGGGTCAGGGG
121918257	16926	NM_000255.3(MUT):c.322C>T (p.Arg108Cys)	MUT	Apr 21, 2017	MedGen:C1855115;MedGen:C1855114,OMIM:251000;MedGen:C1855114,OMIM:251000	METHYLMALONIC ACIDURIA, mut(0) TYPE;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459145	ACCATGTATACCTTTAGGCCCTGGACCATCCGCCAGTATGCTGGTTTTAGTACTGTGGAAG
587783360	167916	NM_003688.3(CASK):c.2041C>T (p.Arg681Ter)	CASK	Jun 03, 2016	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937;MedGen:CN517202	Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided	germline	X	41542805	TATTTTATTTTTCTTTTTGTATGTGCTAGGCGAGTAGCTTGCATTGCCATGGAGAAGACCA
587783057	166274	NM_001128425.1(MUTYH):c.1171C>T (p.Gln391Ter)	MUTYH	Jun 09, 2017	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Carcinoma of colon;Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline;unknown	1	45331676	GGGGCCCTTGGGGCCCAAATTCTGCTGGTGCAGAGGCCCAACTCAGGTACCTGGATACTGG
199422301	38855	NM_198253.2(TERT):c.2431C>T (p.Arg811Cys)	TERT	May 10, 2012	MedGen:C1857144,OMIM:224230;MedGen:C3151444	Dyskeratosis congenita autosomal recessive 1;Dyskeratosis congenita, autosomal recessive, 4	germline	5	1271156	GCCAGCAGTGGCCTCTTCGACGTCTTCCTACGCTTCATGTGCCACCACGCCGTGCGCATCA
727504136	177069	NM_001165963.1(SCN1A):c.3733C>T (p.Arg1245Ter)	SCN1A	May 30, 2017	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	germline;inherited	2	166012255	TAGGCATTTGAAGATATATATATTGATCAGCGAAAGACGATTAAGACGATGTTGGAATATG
374052333	260381	NM_024818.4(UBA5):c.562C>T (p.Arg188Ter)	UBA5	Oct 06, 2016	MedGen:C4310700,OMIM:617132	Epileptic encephalopathy, early infantile, 44	germline	3	132671032	GTTCTTAGCTGTGTGGACAATTTTGAAGCTCGAATGACAATAAATACAGTGAGTATTCCTG
72653788	426949	NM_001171.5(ABCC6):c.2278C>T (p.Arg760Trp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178935	GGCATGAATCTCTCCGGAGGCCAGAAGCAGCGGCTGAGCCTGGCCCGGGCTGTATACAGAA
80356866	69689	NM_007294.3(BRCA1):c.3841C>T (p.Gln1281Ter)	BRCA1	May 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43091690	AGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAACATCACCTTAGTGAGGAAACAAAAT
397514579	48355	NM_145239.2(PRRT2):c.748C>T (p.Gln250Ter)	PRRT2	Dec 13, 2012	MedGen:C1868682,OMIM:128200;Gene:81865,MedGen:C1853995,OMIM:605751	Dystonia 10;Seizures, benign familial infantile, 2	germline	16	29813802	CGAGGTAGCCTGAGCCGCCACCCCAGCTCCCAGTTGGCAGGTCCTGGGGTGGAGGGGGGTG
772083375	359125	NM_176869.2(PPA2):c.182C>T (p.Ser61Phe)	PPA2	Nov 23, 2016	MedGen:C4310664,OMIM:617222	Sudden cardiac failure, infantile	germline	4	105456721	TTGCAGAGAATGTAACTGGTCACTACATTTCCCCCTTTCATGATATTCCTCTGAAGGTGAA
193919338	19009	NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter)	ALMS1	May 01, 2002	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome	germline	2	73490339	GAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGC
104893775	28067	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO	May 13, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151001,OMIM:613731;MedGen:C1405854;MedGen:CN517202	Retinitis pigmentosa;Retinitis pigmentosa 4;Retinitis punctata albescens;not provided	germline	3	129530917	CTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGTAAGCCCATGAGCA
121909592	32079	NM_001737.4(C9):c.346C>T (p.Arg116Ter)	C9	Mar 01, 2003	MedGen:C3151189,OMIM:613825	Complement component 9 deficiency	germline	5	39341276	ATTTTGATTGCAGGCAGATGCATAAAGATGCGACTTCGGTGTAATGGTGACAATGACTGCG
113994131	34068	NM_000642.2(AGL):c.3682C>T (p.Arg1228Ter)	AGL	Jun 13, 2014	MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease type III	germline	1	99902776	CGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTACAGAACTTT
1057519454	362149	NM_015160.2(PMPCA):c.64C>T (p.Arg22Trp)	PMPCA	-	MedGen:C1859298,OMIM:213200,Orphanet:ORPHA1170	Spinocerebellar ataxia, autosomal recessive 2	germline	9	136410732	CTGCGGGGCTCGGGTTCTTGGGGCTGTTCGCGGCTGAGGTGAGCCAAAGGCGAACCAGGCT
61750844	200770	NM_019074.3(DLL4):c.1672C>T (p.Arg558Ter)	DLL4	Aug 19, 2015	MedGen:C0265268,Orphanet:ORPHA974,SNOMED CT:34748004;MedGen:C4225271,OMIM:616589	Adams-Oliver syndrome;Adams-Oliver syndrome 6	germline;paternal	15	40936659	GTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCAGCAGGGAAGCCA
1057519075	359060	NM_002444.2(MSN):c.1657C>T (p.Arg553Ter)	MSN	Dec 20, 2016	MedGen:C4310812,OMIM:300988	Immunodeficiency 50	germline	X	65739816	ATGATCCATGCTGAGAACATGCGACTGGGCCGAGACAAATACAAGACCCTGCGCCAGATCC
398122361	94417	NM_001080976.2(DSE):c.803C>T (p.Ser268Leu)	DSE	Nov 22, 2013	MedGen:C3809845,OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type 2	germline	6	116431086	GAGTTGCGTATGGCAGCTACACCACTAGATCACTCTTCCAATACATGTTTCTCGTCCAGAG
879255241	75109	NM_001478.4(B4GALNT1):c.358C>T (p.Gln120Ter)	B4GALNT1	Jul 11, 2013	MedGen:C1836632,OMIM:609195,Orphanet:ORPHA101006	Spastic paraplegia 26	germline	12	57631225	GAGCTGAGGGCTGCCTCTGCCACAAGAGAGCAGGAGTTCCAGGCCTTTCTGTCGAGGTACC
587784412	170145	NM_006306.3(SMC1A):c.2368C>T (p.Arg790Trp)	SMC1A	May 01, 2014	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	germline	X	53403618	TTTTGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGAAACGGC
587781592	150945	NM_007194.3(CHEK2):c.151C>T (p.Gln51Ter)	CHEK2	May 22, 2015	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009	Familial cancer of breast;Hereditary cancer-predisposing syndrome	germline	22	28734571	TCCTCTACCAGCACGATGCCAAACTCCAGCCAGTCCTCTCACTCCAGCTCTGGGACACTGA
128625230	26259	NM_004006.2(DMD):c.6955C>T (p.Gln2319Ter)	DMD	Sep 01, 1992	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31875331	TTACCTGAGAAACAAGGAGAAATTGAAGCTCAAATAAAAGACCTTGGGCAGCTTGAAAAAA
28989181	21800	NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe)	BUB1B	Jul 27, 2015	MedGen:CN031748,OMIM:257300;MedGen:C1864389,OMIM:176430	Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait	germline	15	40212643	GTTTGGCACCAATATATAAACTGCTTCACCCTTCAGGTCTGTAATACTAAAAACATAATTT
-1	443485	NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter)	COL7A1	Aug 17, 2017	MedGen:CN517202	not provided	germline	3	48593554	GCTGACCATGTCTTCCTGCCCCAGCTGGCCCGACCTGGTGTCCCCAAGGTGATCCCTACCC
587777368	132692	NM_022166.3(XYLT1):c.439C>T (p.Arg147Ter)	XYLT1	Mar 06, 2014	MedGen:C4014294,OMIM:615777	Desbuquois dysplasia 2	germline	16	17259462	TACTTTTCTCATCGGCCGAAAGAGAAAGTGCGAACAGACAGCAACAACGAGAACTCTGTCC
761865592	226413	NM_016213.4(TRIP4):c.832C>T (p.Arg278Ter)	TRIP4	Aug 10, 2016	MedGen:C4225177,OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1	germline	15	64409617	ATTACCATGTGTTCCCTTTTTCTCAGTATTCGAAGGACCCAAGTCATTGATGATGAGTCAG
878853138	237495	NM_022068.3(PIEZO2):c.6668C>T (p.Ser2223Leu)	PIEZO2	Jun 04, 2014	MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154	Oculomelic amyoplasia	de novo	18	10696257	AACACTCAGCAGCTGCAGACATCACCTCTTCACTGTCAGAGGACCAGGTCCCGGGGCCGTT
387907017	39755	NM_001199799.1(ILDR1):c.583C>T (p.Gln195Ter)	ILDR1	Feb 11, 2011	MedGen:C1864818,OMIM:609646	Deafness, autosomal recessive 42	germline	3	122001371	ATTGGAGTGTGCTGGTGCCAGTGCTGTCCTCAGTATTGCTGCTGCTATATCCGCTGTCCCT
128624223	26344	NM_000033.3(ABCD1):c.1544C>T (p.Ser515Phe)	ABCD1	Oct 01, 1994	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153740147	TCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCC
397514526	48137	NM_001139.2(ALOX12B):c.340C>T (p.Arg114Trp)	ALOX12B	Oct 01, 2005	MedGen:C1855792,OMIM:242100	Autosomal recessive congenital ichthyosis 2	germline	17	8086028	TGGATGGATGGCTACGAGACCCTGGCACTCCGGGAGGCCACAGGTAAGCCCTCATCACCCT
121913120	31271	NM_000143.3(FH):c.301C>T (p.Arg101Ter)	FH	Jul 25, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Fumarase deficiency;Hereditary cancer-predisposing syndrome;Multiple cutaneous leiomyomas;not provided	germline;unknown	1	241513680	CCAGTTATTAAAGCTTTTGGCATCTTGAAGCGAGCGGCCGCTGAAGTAAACCAGGATTATG
797045919	207984	NM_001029.4(RPS26):c.55C>T (p.Gln19Ter)	RPS26	Apr 14, 2015	MedGen:C2750080,OMIM:613309	Diamond-Blackfan anemia 10	germline	12	56042476	GGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGAT
-1	478065	NM_000267.3(NF1):c.484C>T (p.Gln162Ter)	NF1	Apr 04, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31169895	AGTTAATTTTGGTTTTTACTTTTTAGGTTACAGGAATTAACTGTTTGTTCAGAAGACAATG
587783151	166536	NM_003159.2(CDKL5):c.1324C>T (p.Gln442Ter)	CDKL5	Jan 15, 2014	MedGen:CN517202	not provided	germline	X	18604248	AAGTACCTCAAGTCAAACAGCAGATCTCAGCAGAACCGCCACTCATTCATGGAAAGCTCTC
80356541	34525	NM_021830.4(TWNK):c.1287C>T (p.Ala429=)	TWNK	Jul 22, 2010	MedGen:C1849096,OMIM:271245,Orphanet:ORPHA1186	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	not provided	10	100989687	TGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACA
886039263	259360	NM_001242896.1(DEPDC5):c.1759C>T (p.Arg587Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31819114	GTTGGCAGTGCAGAATCCATGCTGCATGTTCGACCTGGTGGATACACGCCCCAGAGAGCAC
387906811	39158	NM_003073.4(SMARCB1):c.143C>T (p.Pro48Leu)	SMARCB1	Feb 01, 2012	MedGen:C4048809,OMIM:162091	Schwannomatosis 1	unknown	22	23791805	TGTTCCGAGGTTCTCTGTACAAGAGATACCCCTCACTCTGGAGGCGACTAGCCACTGTGGA
121909035	22246	NM_000492.3(CFTR):c.2845C>T (p.His949Tyr)	CFTR	May 15, 1994	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117603719	CATACTCTAATCACAGTGTCGAAAATTTTACACCACAAAATGTTACATTCTGTTCTTCAAG
121918056	28554	NM_002693.2(POLG):c.679C>T (p.Arg227Trp)	POLG	Feb 02, 2017	MedGen:C3150914,OMIM:613662;MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED CT:20415001;MedGen:CN517202	Mitochondrial DNA depletion syndrome 4B, MNGIE type;Progressive sclerosing poliodystrophy;not provided	germline	15	89330257	ACCTCCCTCAGGTATTCCTGGTGCAGCCAGCGGCTGGTGGAAGAGCGTTACTCTTGGACCA
104894306	21942	NM_003002.3(SDHD):c.64C>T (p.Arg22Ter)	SDHD	Feb 04, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1868633,OMIM:168000;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Hereditary cancer-predisposing syndrome;Paragangliomas 1;Pheochromocytoma	germline	11	112087868	CTAATGACTCTTTCCTCAGCTCTGTTGCTTCGAACTCCAGTGGTCAGACCTGCTCATATCT
113993986	34186	NM_002863.4(PYGL):c.2024C>T (p.Ser675Leu)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	not provided	14	50910048	AGCAGATTTCCACTGCAGGCACCGAAGCCTCGGGGACAGGCAATATGAAGTTCATGCTAAA
879253738	227436	NM_031942.4(CDCA7):c.1057C>T (p.Arg353Cys)	CDCA7	Apr 21, 2016	MedGen:C4310799,OMIM:616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	germline	2	173366304	TATTTGTAGGGCTCTACTTGTCATCAATGCCGTCAGAAGACTATTGATACCAAAACAAACT
201422931	445261	NM_000153.3(GALC):c.266C>T (p.Pro89Leu)	GALC	Nov 01, 2017	MedGen:CN517202	not provided	germline	14	87988206	TATGTTAATACTGTTACTTCTTTTCACAGCCGAATTTTGGTGCCTCTTTGCATATTTTAAA
-1	429140	NM_004523.3(KIF11):c.868C>T (p.Gln290Ter)	KIF11	Mar 15, 2017	MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	germline	10	92613455	AAGAGAGCTCGGGAAGCTGGAAATATAAATCAATCCCTGTTGACTTTGGGAAGGGTCATTA
137852482	25077	NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu)	HPRT1	Sep 26, 2017	na;MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004	HPRT LONDON;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	germline	X	134486475	TTTTTTTTTTTTTTAACTAGAATGACCAGTCAACAGGGGACATAAAAGTAATTGGTGGAGA
587776952	51085	NM_001305581.1(LRMDA):c.664C>T (p.Arg222Ter)	LRMDA	Apr 16, 2013	MedGen:C3808786,OMIM:615179	Albinism, oculocutaneous, type VII	germline	10	76557271	GGGAAAAACTCAGAGGGCAACAGGTTTATCCGAGATGACCAGCTCTGAAGCCAACTTCTGT
121907917	18506	NM_000280.4(PAX6):c.718C>T (p.Arg240Ter)	PAX6	Jun 20, 2017	MedGen:C0344542,OMIM:106210;MedGen:C0344542,OMIM:106210;Human Phenotype Ontology:HP:0000659,MedGen:C0344559,OMIM:604229,SNOMED CT:204153003;MedGen:CN517202	Aniridia 1;Aniridia 1;Irido-corneo-trabecular dysgenesis;not provided	de novo;germline	11	31794079	GAGAGAACCCATTATCCAGATGTGTTTGCCCGAGAAAGACTAGCAGCCAAAATAGATCTAC
777006911	204975	NM_058004.3(PI4KA):c.2386C>T (p.Arg796Ter)	PI4KA	Jul 01, 2015	MedGen:C4225295,OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	germline	22	20765636	GAAGCTAAGCCTCGGTTACAGAAGCTCTTCCGAGACTTCTGGCTGTATTCCGTTCTGATGG
-1	445013	NM_001844.4(COL2A1):c.905C>T (p.Ala302Val)	COL2A1	Oct 10, 2017	MedGen:CN517202	not provided	germline	12	47993828	ATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCA
372896892	48441	NM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter)	FKBP10	Nov 22, 2011	MedGen:C3151433,OMIM:613849	Osteogenesis imperfecta type 12	germline	17	41820412	AATGAGACCACCAAGCTTGGGGACTTTGTTCGATACCATTACAACTGTTCTTTGCTGGACG
431905516	102923	NM_001044.4(SLC6A3):c.1561C>T (p.Arg521Trp)	SLC6A3	Jan 01, 2011	MedGen:C2751067,OMIM:613135,Orphanet:ORPHA238455	Infantile Parkinsonism-dystonia	germline	5	1406226	ATGACCGGGCAGCGGCCCAGCCTGTACTGGCGGCTGTGCTGGAAGCTGGTCAGCCCCTGCT
764575966	181600	NM_003001.3(SDHC):c.397C>T (p.Arg133Ter)	SDHC	Jul 25, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854336,OMIM:605373;MedGen:CN517202;MedGen:CN169374	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 3;not provided;not specified	germline	1	161356832	CCTCTCATGTATCATACCTGGAATGGGATCCGACACTTGGTAAGTTAATTCGGGATTTGCA
765903345	248618	NM_015650.3(TRAF3IP1):c.463C>T (p.Arg155Ter)	TRAF3IP1	Sep 06, 2016	MedGen:C4225263,OMIM:616629	Senior-Loken syndrome 9	germline	2	238328794	AGATCTCAGGAATTGGATAATAAGAATGTGCGAGAAGAAGAGTCCAGAGTTCACAAAAATA
-1	432189	NM_000444.5(PHEX):c.2044C>T (p.Gln682Ter)	PHEX	Nov 06, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22227585	CTTCTACCAGGCATCACATTCACCAACAACCAGCTCTTCTTCCTGAGTTATGCTCATGTGA
1131691627	421974	NM_001170629.1(CHD8):c.6103C>T (p.Arg2035Ter)	CHD8	Oct 12, 2016	MedGen:C3554373,OMIM:615032;MedGen:CN517202	Autism, susceptibility to, 18;not provided	de novo;germline	14	21393692	AAGCTAGAGCACGAGGTGGTGGCCAGGAGCCGACCAACCCCACAAGACTATGAGATGCGAG
1131692328	424561	NM_022455.4(NSD1):c.1549C>T (p.Gln517Ter)	NSD1	Dec 02, 2016	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	unknown	5	177209948	AAAAGGACTAGTGTGAAAAAGGGCCACATACAATTTGAAGCACATAAAGATGAACGGAGGG
120074191	18180	NM_000218.2(KCNQ1):c.350C>T (p.Pro117Leu)	KCNQ1	Oct 20, 2001	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007	Congenital long QT syndrome;Long QT syndrome 1	germline	11	2445448	AGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTT
606231422	170958	NM_005214.4(CTLA4):c.208C>T (p.Arg70Trp)	CTLA4	Oct 20, 2014	MedGen:C4015214,OMIM:616100,Orphanet:ORPHA436159	Autoimmune lymphoproliferatiVe syndrome, type V	germline	2	203870684	TATGCATCTCCAGGCAAAGCCACTGAGGTCCGGGTGACAGTGCTTCGGCAGGCTGACAGCC
180177210	200482	NM_000030.2(AGXT):c.364C>T (p.Arg122Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240870649	ACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAG
587783248	167678	NM_018136.4(ASPM):c.5233C>T (p.Arg1745Ter)	ASPM	Dec 07, 2012	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197104018	CTGCAAGCATTTGTTAGAGGATACCTTGTCCGAAAGCAGATGAGGTTACAAAGAAAAGCTG
759826138	272074	NM_000271.4(NPC1):c.2872C>T (p.Arg958Ter)	NPC1	Jul 12, 2016	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline;unknown	18	23539394	GACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCA
139073416	16326	NM_017837.3(PIGV):c.1022C>T (p.Ala341Val)	PIGV	Oct 01, 2010	MedGen:C1855923,OMIM:239300,Orphanet:ORPHA247262	Hyperphosphatasia with mental retardation syndrome 1	germline	1	26795056	CTGCACCAGTGGCTATACTGGTTGCCTGGGCAACTTGGACATACGTGACCACTCACCCTTG
121917861	23912	NM_002181.3(IHH):c.461C>T (p.Thr154Ile)	IHH	Jan 01, 2006	Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388	Type A1 brachydactyly	germline	2	219057549	TGCATTATGAGGGCCGCGCGGTGGACATCACCACATCAGACCGCGACCGCAATAAGTATGG
111033559	28675	NM_002667.4(PLN):c.25C>T (p.Arg9Cys)	PLN	Jun 02, 2017	MedGen:C1835928,OMIM:609909;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1P;Primary dilated cardiomyopathy;not provided	germline	6	118558946	GGTATCATGGAGAAAGTCCAATACCTCACTCGCTCAGCTATAAGAAGAGCCTCAACCATTG
80359234	67544	NM_000059.3(BRCA2):c.961C>T (p.Gln321Ter)	BRCA2	Jun 26, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32332439	TGTTTTTCTAAATGTAGAACAAAAAATCTACAAAAAGTAAGAACTAGCAAGACTAGGAAAA
121908094	19313	NM_005857.4(ZMPSTE24):c.121C>T (p.Gln41Ter)	ZMPSTE24	Jun 01, 2008	MedGen:C1837756,OMIM:608612,Orphanet:ORPHA90154;MedGen:CN517202	Mandibuloacral dysplasia with type B lipodystrophy;not provided	germline	1	40258392	TATCTTTGGGAGACCTTCCTAGCACAGCGGCAGGTGAGCCTAGACAGGGTCCAACCTGACC
-1	482145	NM_001288653.1(CLTC):c.781C>T (p.Gln261Ter)	CLTC	Dec 15, 2017	MedGen:CN517202	not provided	germline	17	59651290	GCAGTGGATGTCTTCTTTCCTCCAGAAGCACAAAATGATTTTCCTGTTGCAATGCAGGTAT
371707778	70512	NM_001003800.1(BICD2):c.2108C>T (p.Thr703Met)	BICD2	Apr 05, 2016	MedGen:C3809049,OMIM:615290,Orphanet:ORPHA363454;MedGen:CN517202	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant;not provided	germline	9	92717947	CTTTTCCACCCTACACATCTGTCCCCCAGACGGCCGAGGTGGCCCTTGCCAACCTGAAGAG
137852925	18423	NM_001166136.1(EVC2):c.1615C>T (p.Gln539Ter)	EVC2	Mar 01, 2003	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	germline	4	5628590	GTGCAGGGCCTTCTGAGCACCGCTGCAGCCCAGCTGACTCACCTCATTCAGAAGCACGAGA
779652673	414979	NM_001182.4(ALDH7A1):c.589C>T (p.Pro197Ser)	ALDH7A1	Sep 25, 2017	MedGen:C1849508,OMIM:266100;MedGen:CN517202	Pyridoxine-dependent epilepsy;not provided	germline	5	126577140	CTGGTTGGAATCATCACGGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACGCCA
104895460	19734	NM_022162.2(NOD2):c.1405C>T (p.Leu469Phe)	NOD2	Sep 01, 2001	MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464	Blau syndrome;Sarcoidosis, early-onset	germline	16	50711316	CGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCC
128620188	26384	NM_000061.2(BTK):c.43C>T (p.Gln15Ter)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101375242	ATTCTGGAGAGCATCTTTCTGAAGCGATCCCAACAGAAAAAGAAAACATCACCTCTAAACT
140853839	200239	NM_000017.3(ACADS):c.988C>T (p.Arg330Cys)	ACADS	May 24, 2017	MedGen:CN517202	not provided	germline	12	120738874	GCCCTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCATGCTGAAGGATAACAAGAAGC
778075842	430984	NM_014967.4(FAN1):c.1102C>T (p.Gln368Ter)	FAN1	Sep 21, 2016	MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996	Interstitial nephritis, karyomegalic	germline	15	30905765	GAGCAGGGGTCAAGCTGCAATGGTCCTGGTCAAACAACCGGTCATCCTTACTACCTTCGGA
773906955	235888	NM_002878.3(RAD51D):c.442C>T (p.Gln148Ter)	RAD51D	Oct 13, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	35107026	AATGGAGGGCTGACAGCTTCCCGCCTCCTCCAGCTGCTTCAGGCTAAAACCCAGGATGAGG
606231272	167422	NM_015559.2(SETBP1):c.1873C>T (p.Arg625Ter)	SETBP1	Feb 09, 2016	MedGen:C4015141,OMIM:616078;MedGen:CN517202	Mental retardation, autosomal dominant 29;not provided	germline	18	44951213	CGAGAGTTTCCTGGCACTAAGAAAAGAAAGCGACGACGCAATTTAGCGAAGTTGGCCCAGC
72648343	445819	NM_000088.3(COL1A1):c.1414C>T (p.Arg472Ter)	COL1A1	Aug 01, 2017	MedGen:CN517202	not provided	germline	17	50194768	CCTGCTGGAGAGGAAGGAAAGCGAGGAGCTCGAGGTGAACCCGGACCCACTGGCCTGCCCG
118203474	58292	NM_000368.4(TSC1):c.973C>T (p.Gln325Ter)	TSC1	Feb 10, 2016	MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	germline	9	132911509	TCTCGGCTGATGTTGTTAAATATGCCAGGGCAGCTACCTCAGACTCTGAGTTCCCCATCGA
137852757	23831	NM_000227.4(LAMA3):c.1981C>T (p.Arg661Ter)	LAMA3	Jun 15, 2017	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006	Junctional epidermolysis bullosa gravis of Herlitz	germline;unknown	18	23907639	GAAGTGATAGACACCAATCTCACAACTCTCCGAGATGGTCTTCATGGGATACAGAGAGGTC
760791287	265414	NM_001609.3(ACADSB):c.295C>T (p.Gln99Ter)	ACADSB	Dec 29, 2015	MedGen:C1864912,OMIM:610006,Orphanet:ORPHA79157,SNOMED CT:444838008	Deficiency of 2-methylbutyryl-CoA dehydrogenase	germline	10	123037839	ATGGAGAAATCAGTAATACAAGGATTATTTCAACAAGGGGTACATTTCATAATTCTTCCAC
-1	442116	NM_000435.2(NOTCH3):c.3016C>T (p.Arg1006Cys)	NOTCH3	Jun 27, 2014	MedGen:CN517202	not provided	germline	19	15180807	CCCCTCCAGACGCTGGTGGATTGGTGCAGCCGCCAGCCTTGTCAAAACGGGGGTCGCTGCG
1060501973	394916	NM_005732.3(RAD50):c.2569C>T (p.Gln857Ter)	RAD50	Nov 08, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132604850	GAATTGAATCGTAAGCTTATACAGGACCAGCAGGAACAGATTCAACATCTAAAAAGTACAA
121908051	18701	NM_000229.1(LCAT):c.101C>T (p.Pro34Leu)	LCAT	Jan 31, 1992	MedGen:C0342895,OMIM:136120,Orphanet:ORPHA79292,SNOMED CT:238092004	Fish-eye disease	germline	16	67944001	CCTTCTGGCTCCTCAATGTGCTCTTCCCCCCGCACACCACGCCCAAGGCTGAGCTCAGTAA
-1	481448	NM_001128834.2(PLP1):c.817C>T (p.Arg273Ter)	PLP1	Oct 27, 2017	MedGen:C1839264,OMIM:312920,Orphanet:ORPHA99015	Spastic paraplegia 2	maternal	X	103790581	TACAACTTTGCCGTCCTTAAACTCATGGGCCGAGGCACCAAGTTCTGATCCCCCGTAGAAA
886039981	261894	NM_007294.3(BRCA1):c.1918C>T (p.Gln640Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43093613	AATCTAAGCCCACCTAATTGTACTGAATTGCAAATTGATAGTTGTTCTAGCAGTGAAGAGA
727503983	177403	NM_003482.3(KMT2D):c.8488C>T (p.Arg2830Ter)	KMT2D	Dec 11, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49038868	CAACAACAGGCAACAGCAGCAACCTCCATGCGATTTGCCATGTCAGCTCGCTTTCCATCAA
886041843	264526	NM_001844.4(COL2A1):c.544C>T (p.Gln182Ter)	COL2A1	Jun 28, 2016	MedGen:CN517202	not provided	germline	12	47996613	TGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTG
139964066	237314	NM_000352.4(ABCC8):c.3640C>T (p.Arg1214Trp)	ABCC8	Jan 12, 2017	MedGen:C3888018,Orphanet:ORPHA276525;MedGen:CN517202	Familial hyperinsulinism;not provided	germline	11	17402671	GCCGAAACCGTAGAAGGACTCACCACCATCCGGGCCTTCAGGTACGAGTCCACATTCCCCC
61755783	28222	NM_000322.4(PRPH2):c.424C>T (p.Arg142Trp)	PRPH2	Mar 17, 2014	MedGen:C2751290,OMIM:613105;MedGen:CN517202	Choroidal dystrophy, central areolar 2;not provided	germline	6	42721911	CAAGGGCTCAAGAACGGCATGAAGTACTACCGGGACACAGACACCCCTGGCAGGTGTTTCA
119460972	17993	NM_000379.3(XDH):c.682C>T (p.Arg228Ter)	XDH	May 15, 1997	MedGen:C0268118,OMIM:278300,Orphanet:ORPHA93601,SNOMED CT:124147007	Deficiency of xanthine oxidase	germline	2	31386525	AGGCTGAAAGACACTCCTCGGAAGCAGCTGCGATTTGAAGGGGAGCGTGTGACGTGGATAC
587780564	143271	NM_001376.4(DYNC1H1):c.1792C>T (p.Arg598Cys)	DYNC1H1	Jun 21, 2017	MedGen:C0027888,Orphanet:ORPHA140450;MedGen:C1834690,OMIM:158600,Orphanet:ORPHA209341;MedGen:CN517202	Hereditary motor and sensory neuropathy;Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant;not provided	de novo;germline	14	101986017	TTTAATGCACTGTTTGTCAGGCCTCACATCCGTGGGGCCATTCGCGAATACCAGACCCAGC
537704873	440170	NM_001080463.1(DYNC2H1):c.7441C>T (p.Arg2481Ter)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	11	103191520	GATTGTTTACTGTATTTTCTTTTTCAGGTGCGAGCCAAATTTACAGTTGATGATTATAGTC
756210458	203843	NM_000026.3(ADSL):c.421C>T (p.Arg141Trp)	ADSL	Jun 22, 2015	Human Phenotype Ontology:HP:0003698,MedGen:C0241237;Human Phenotype Ontology:HP:0002123,MedGen:C4021759;Human Phenotype Ontology:HP:0002540,MedGen:C0560046;Human Phenotype Ontology:HP:0002344,MedGen:C1854838;Human Phenotype Ontology:HP:0011344,MedGen:C1854919;MedGen:CN517202	Difficulty standing;Generalized myoclonic seizures;Inability to walk;Progressive neurologic deterioration;Severe global developmental delay;not provided	germline;unknown	22	40354266	TCTTTCTTGTAGCTTGCCAGAGTGATCTCTCGGCTTGCCGACTTTGCTAAGGAACGAGCCA
267606641	17053	NM_017651.4(AHI1):c.1765C>T (p.Arg589Ter)	AHI1	Oct 19, 2017	MedGen:C1837713,OMIM:608629;MedGen:CN517202	Joubert syndrome 3;not provided	germline	6	135447022	GAAGAGTCAAAGGAAGTAATAAAGTGGAAACGACTCCCTGGGCAGGTGAAGTGTTTGATAA
113994147	34078	NM_000920.3(PC):c.2540C>T (p.Ala847Val)	PC	Jul 21, 2011	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001	Pyruvate carboxylase deficiency	not provided	11	66850398	ACTGGGAGGGGGCTCGGGGACTGTACGCGGCCTTCGACTGCACGGCCACCATGAAGTCTGG
1057520507	378757	NM_000018.3(ACADVL):c.1843C>T (p.Arg615Ter)	ACADVL	Apr 24, 2017	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202;MedGen:CN169374	Very long chain acyl-CoA dehydrogenase deficiency;not provided;not specified	germline	17	7224972	CTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACC
1057524638	375966	NM_001163809.1(WDR81):c.1564C>T (p.Gln522Ter)	WDR81	Jan 05, 2017	MedGen:CN517202	not provided	germline	17	1726523	CTGGATGTGCCAGCCTGGTGCAGCTCCAGCCAGGAGTTCGTAGCTGCCCACCGAGCCCTGC
267607555	77659	NM_170707.3(LMNA):c.1045C>T (p.Arg349Trp)	LMNA	Aug 17, 2015	MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:CN517202	Familial partial lipodystrophy 2;not provided	germline	1	156136009	GCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGT
121434349	17050	NM_001134831.1(AHI1):c.1303C>T (p.Arg435Ter)	AHI1	Sep 01, 2004	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	germline	6	135455775	GTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGATGAGAGTCCTAAAGTCATCC
587782292	151901	NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys)	ATM	May 03, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108365359	ATTGACCAGAGTTTCAACAAAGTAGCTGAACGTGTCTTAATGAGACTACAAGAGAAACTGA
748979061	195599	NM_000843.3(GRM6):c.1462C>T (p.Gln488Ter)	GRM6	Jan 20, 2015	MedGen:C1850362,OMIM:257270	Congenital stationary night blindness, type 1B	germline	5	178986876	ACCAATGGCAGTGCCAGCAGTGGCGGGTACCAGGCAGTGGGCCAGTGGGCAGAGACCCTCA
763380940	260204	NM_017653.4(DYM):c.1504C>T (p.Gln502Ter)	DYM	Jul 04, 2017	MedGen:CN517202	not provided	germline	18	49163744	CTGTCTAAAAAACACAACAAAGTTCTGGAACAAGCCACACAGTCCTTGAGAGGTTCGCTGA
104894269	21879	NM_005169.3(PHOX2A):c.215C>T (p.Ala72Val)	PHOX2A	Nov 01, 2001	MedGen:C1865915,OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	germline	11	72243790	TACGCGACCACCAGCCCGCGCCCTACTCGGCAGGTGAGCGCAGCCCCGGCCCAACCCTCCC
-1	354197	NM_013386.4(SLC25A24):c.649C>T (p.Arg217Cys)	SLC25A24	Jan 26, 2018	MedGen:C2676780,OMIM:612289,SNOMED CT:205800003	Fontaine progeroid syndrome	de novo;germline	1	108157482	GTCTCTCGAACAAGCACTGCCCCTTTGGACCGTCTGAAAATCATGATGCAGGTGAGCTTTA
201320564	417103	NM_019098.4(CNGB3):c.1432C>T (p.Arg478Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86628967	AATTACTCCATTCCTAAACTTGTGCAAAAGCGAGTTCGGACTTGGTATGAATATACATGGG
74315293	23991	NM_000098.2(CPT2):c.1891C>T (p.Arg631Cys)	CPT2	Dec 29, 2016	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005;MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305;MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302	Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	germline	1	53213509	ATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGG
45477491	59249	NM_000548.4(TSC2):c.3442C>T (p.Gln1148Ter)	TSC2	Feb 10, 2017	MedGen:C0751674,OMIM:606690,Orphanet:ORPHA538,SNOMED CT:73017001;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Lymphangiomyomatosis;Tuberous sclerosis syndrome;Tuberous sclerosis syndrome;not provided	germline	16	2080209	CGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGAC
864622663	221614	NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter)	SH3TC2	Oct 28, 2015	MedGen:CN043578	Charcot-Marie-Tooth disease, type IV	germline	5	149047930	CGCTCCAGGAGGTGTGTAAATGGACCCCTACAGGAAGCTGCTCGGAGGCGGCTCTGGGCAC
587783070	166347	NM_018060.3(IARS2):c.2726C>T (p.Pro909Leu)	IARS2	Nov 13, 2014	Human Phenotype Ontology:HP:0000518,MedGen:C1962983;MedGen:C4014942,OMIM:616007,Orphanet:ORPHA436174;Human Phenotype Ontology:HP:0009830,MedGen:C0442874;MedGen:CN220452;MedGen:CN220453	Cataract;Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia;Peripheral neuropathy;growth hormone deficiency with short stature;partial sensorineural deafness	germline	1	220143109	CTGAGTACAAGGTTATCACTGTGATAGAACCTGGACTGCTTTTTGAGATAATAGAGGTATG
369535598	150456	NM_012293.2(PXDN):c.1021C>T (p.Arg341Ter)	PXDN	Jun 18, 2014	MedGen:C3151617,OMIM:269400	Anterior segment dysgenesis 7	germline	2	1666484	ATTGAGAATTTCTGTTTAATTGTGACAGCTCGACCCACTTTTGTAATCCAGCCACAGAATA
28940876	18811	NM_000372.4(TYR):c.242C>T (p.Pro81Leu)	TYR	Nov 02, 2016	Human Phenotype Ontology:HP:0001022,MedGen:C0001916;MedGen:C1847024,OMIM:606952,Orphanet:ORPHA79434;MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Albinism;Oculocutaneous albinism type 1B;Tyrosinase-negative oculocutaneous albinism;not provided	germline;unknown	11	89178195	TCACAGGGGTGGATGACCGGGAGTCGTGGCCTTCCGTCTTTTATAATAGGACCTGCCAGTG
62516060	15663	NM_000277.2(PAH):c.997C>T (p.Leu333Phe)	PAH	Jan 01, 1993	Human Phenotype Ontology:HP:0004923,MedGen:C0751435;MedGen:CN517202	Hyperphenylalaninemia, non-pku;not provided	germline	12	102844404	CAGATTTACTGGTTTACTGTGGAGTTTGGGCTCTGCAAACAAGGAGACTCCATAAAGGCAT
876660802	233018	NM_000038.5(APC):c.1234C>T (p.Gln412Ter)	APC	Sep 21, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112819266	CGTGAAATCCGAGTCCTTCATCTTTTGGAACAGATACGCGCTTACTGTGAAACCTGTTGGG
72551312	76775	NM_000784.3(CYP27A1):c.409C>T (p.Arg137Trp)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218809730	CGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATGGGCCGT
879253824	224654	NM_000255.3(MUT):c.88C>T (p.Gln30Ter)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459379	AAAGAATCATCAGGCTCCAGGCTCATACAGCAACGACTTCTACACCAGCAACAGCCCCTTC
1064794020	406010	NM_003494.3(DYSF):c.5884C>T (p.Gln1962Ter)	DYSF	Aug 01, 2016	MedGen:C2931687,Orphanet:ORPHA207073;MedGen:CN517202	Dysferlinopathy;not provided	germline	2	71679173	CACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTG
1135401793	424679	NM_000489.4(ATRX):c.4865C>T (p.Ala1622Val)	ATRX	Jan 06, 2017	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	maternal	X	77633657	TTTTGTGTGACAAACTGGATTTCAGCACGGCGTTAGTGGTTTGTCCTCTTAATACTGCTTT
796052002	200116	NM_000255.3(MUT):c.982C>T (p.Leu328Phe)	MUT	Feb 09, 2017	Human Phenotype Ontology:HP:0002912,MedGen:C0268583,SNOMED CT:42393006	Methylmalonic acidemia	germline	6	49453686	GAAATAGCAAAGATGAGAGCTGGTAGAAGACTCTGGGCTCACTTAATAGAGAAAATGTTTC
748555538	272596	NM_014780.4(CUL7):c.4318C>T (p.Arg1440Ter)	CUL7	Jun 15, 2016	MedGen:C1848862,OMIM:273750	Three M syndrome 1	germline	6	43038964	GGTCCAGGTCAGAGCCACCCTGCCCTTGAGCGAGGCTCACAGAGGCGACTGCAGTGGACGT
121908802	68685	NM_000492.3(CFTR):c.595C>T (p.His199Tyr)	CFTR	Jun 13, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117535263	GCTTTTATTTTCCAGGGACTTGCATTGGCACATTTCGTGTGGATCGCTCCTTTGCAAGTGG
137853055	22076	NM_004562.2(PRKN):c.931C>T (p.Gln311Ter)	PRKN	Sep 01, 2005	MedGen:C1868675,OMIM:600116	Parkinson disease 2	germline	6	161569357	CTCCATCACTTCAGGATTCTGGGAGAAGAGCAGGTGAGTGAGCATCTCAAAGGCTGCATCA
121909151	22820	NM_000288.3(PEX7):c.653C>T (p.Ala218Val)	PEX7	Jun 14, 2015	MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789	Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1	germline;unknown	6	136869909	ATTGTTTTTAGAATTTGCTGGTGACCGGGGCGGTTGACTGTAGTTTGAGAGGCTGGGACTT
118192178	76889	NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys)	RYR1	Dec 02, 2016	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN031421,OMIM:145600;MedGen:CN239331;MedGen:CN517202	Central core disease;Malignant hyperthermia, susceptibility to, 1;RYR1-Related Disorders;not provided	germline;unknown	19	38500898	CACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCT
782663655	260335	NM_004187.3(KDM5C):c.3880C>T (p.Gln1294Ter)	KDM5C	Aug 01, 2016	MedGen:CN517202	not provided	germline	X	53194297	AGGGCCATCAGCTGGCAAGGCCGCGCCAGGCAGGCTCTGGCCTCTGAAGATGTGACTGCTC
397515633	86134	NM_002608.3(PDGFB):c.445C>T (p.Arg149Ter)	PDGFB	Aug 14, 2017	MedGen:C3809645,OMIM:615483	Idiopathic basal ganglia calcification 5	germline	22	39231633	GTGCAGTGCCGCCCCACCCAGGTGCAGCTGCGACCTGTCCAGGTGCGTAGGCTCCGCGGCC
72554305	102997	NM_000531.5(OTC):c.106C>T (p.Gln36Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367319	AGGTGTGGACAACCACTACAAAATAAAGTGCAGCTGAAGGGCCGTGACCTTCTCACTCTAA
121908428	20366	NM_133647.1(SLC12A6):c.2023C>T (p.Arg675Ter)	SLC12A6	Aug 22, 2017	MedGen:C0795950,OMIM:218000,Orphanet:ORPHA1496	Andermann syndrome	germline	15	34243993	ACATTACTTCGAACACCCAACTGGAGACCCCGATTCCGCTACTACCATTGGTAAGTCTGCT
398123160	98357	NM_000143.3(FH):c.1126C>T (p.Gln376Ter)	FH	Jan 17, 2017	Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Multiple cutaneous leiomyomas;not provided	germline	1	241502553	GGTTTTCTTGAAGGCAAGGTGAACCCTACTCAGTGTGAAGCAATGACCATGGTTGCAGCCC
138775799	150541	NM_001128425.1(MUTYH):c.289C>T (p.Arg97Ter)	MUTYH	Jul 25, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline	1	45333472	TTCAGAGACGTAGCTGAAGTCACAGCCTTCCGAGGGAGCCTGCTAAGCTGGTACGACCAAG
766315644	394729	NM_005732.3(RAD50):c.832C>T (p.Arg278Ter)	RAD50	Mar 11, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132587637	CTTGACAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAATAGTG
587777695	165524	NM_020928.1(ZSWIM6):c.3487C>T (p.Arg1163Trp)	ZSWIM6	Oct 31, 2017	MedGen:C1863616,OMIM:603671;MedGen:CN517202	Acromelic frontonasal dysostosis;not provided	de novo;germline	5	61544156	ACGCACTCACGGCTCACACACATCAGTCCTCGGCACTATAGTGAGTTTATAGAGTTCCTCA
121913078	31541	NM_000043.5(FAS):c.361C>T (p.Arg121Trp)	FAS	Feb 01, 1997	MedGen:C1866119	Autoimmune lymphoproliferative syndrome, type 1a	germline	10	89008915	CTAGGCTTAGAAGTGGAAATAAACTGCACCCGGACCCAGAATACCAAGTGCAGATGTAAAC
121964892	27258	NM_000490.4(AVP):c.20C>T (p.Pro7Leu)	AVP	Sep 01, 2004	MedGen:C4016430	Diabetes insipidus, neurohypophyseal, autosomal recessive	germline	20	3084655	TGTGCACCAGGATGCCTGACACCATGCTGCCCGCCTGCTTCCTCGGCCTACTGGCCTTCTC
727504301	175133	NM_033056.3(PCDH15):c.1927C>T (p.Arg643Ter)	PCDH15	Feb 10, 2014	MedGen:C1865885,OMIM:602083	Usher syndrome, type 1F	germline	10	54090054	AATTATGTTTTCTCTCTGAAGGCAACTGATCGAGAGGGAGACTCAATAACATATGCCATTG
121912811	32557	NM_000781.2(CYP11A1):c.566C>T (p.Ala189Val)	CYP11A1	Aug 01, 2002	MedGen:C3151055,OMIM:613743,Orphanet:ORPHA168558	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete	germline	15	74345103	TCAGTGTCCTGCACAGGCGCATCAAGAAGGCGGGCTCCGGAAATTACTCGGGGGACATCAG
267606937	23812	NM_006204.3(PDE6C):c.826C>T (p.Arg276Ter)	PDE6C	Nov 17, 2009	MedGen:C2751309	Achromatopsia 5	germline	10	93622034	TACACGGTTAGATCATATCTGAACTGTGAACGATACTCCATTGGACTGCTGGACATGACCA
797044998	205005	NM_005097.3(LGI1):c.1420C>T (p.Arg474Ter)	LGI1	Aug 27, 2015	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046	Epilepsy, lateral temporal lobe, autosomal dominant	germline	10	93797549	TCGTTCCAGGATATTCAGAGGATGCCATCGCGAGGATCCATGGTGTTCCAGCCTCTTCAAA
45517099	58900	NM_000548.4(TSC2):c.268C>T (p.Gln90Ter)	TSC2	Jul 31, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided	germline	16	2053384	GCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACG
121964894	15334	NM_000552.4(VWF):c.2446C>T (p.Arg816Trp)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282975,Orphanet:ORPHA166093,SNOMED CT:359732009	not provided;von Willebrand disease type 2N	germline	12	6036488	GAGGACTTTTGGATTCTTTTCTCTTAGGTCCGGCATGAGAACAGATGTGTGGCCCTGGAAA
63751108	16794	NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter)	MSH2	Sep 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided	germline;unknown	2	47429881	AGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTA
876658631	234939	NM_000059.3(BRCA2):c.7516C>T (p.Gln2506Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32356508	AAGAAGAAACAAAGGCAACGCGTCTTTCCACAGCCAGGCAGTCTGTATCTTGCAAAAACAT
118204026	16529	NM_001039141.2(TRIOBP):c.1039C>T (p.Arg347Ter)	TRIOBP	Jun 04, 2016	MedGen:C1853276,OMIM:609823	Deafness, autosomal recessive 28	germline	22	37723595	TGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCT
121912620	19541	NM_016180.4(SLC45A2):c.1457C>T (p.Ala486Val)	SLC45A2	Feb 01, 2004	MedGen:C1847836,OMIM:606574,Orphanet:ORPHA79435	Oculocutaneous albinism type 4	germline	5	33944784	GCGCCACCCTCACATGCATGGTGCAGCTGGCTCAGATCCTGGTCGGAGGTGGCCTGGGCTT
121918527	25717	NM_031407.6(HUWE1):c.12559C>T (p.Arg4187Cys)	HUWE1	Oct 31, 2017	MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328;MedGen:CN517202	Mental retardation, X-linked, syndromic, turner type;not provided	germline	X	53535474	TAGGTCCAAGAGTTTGGAGTTTGTGAAGTTCGTGACCTCAAACCCAATGGGGCCAACATCT
387907228	44205	NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys)	ABCC9	May 18, 2012	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517	Hypertrichotic osteochondrodysplasia	germline	12	21842441	CACATCCCTCCAACCTTGGAATCTCTAACTCGCTCAACACTGCTCTGCCTGTCTGCCATTG
1060500123	404499	NM_003611.2(OFD1):c.2725C>T (p.Arg909Ter)	OFD1	Dec 19, 2016	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Joubert syndrome;Oral-facial-digital syndrome	germline	X	13767252	AGTAACCTACAAGAAGTTTTAGAAAGGGAACGAAGAGAACTAGAAAAACTGTATCAGGAAA
267607400	77210	NM_000526.4(KRT14):c.1228C>T (p.Gln410Ter)	KRT14	Sep 15, 2016	MedGen:CN517202	not provided	germline	17	41583281	ATCCTGCTGGACGTGAAGACGCGGCTGGAGCAGGAGATCGCCACCTACCGCCGCCTGCTGG
61753979	153199	NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter)	MECP2	Feb 08, 2013	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	de novo;germline	X	154030471	GCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTT
387907207	40608	NM_002049.3(GATA1):c.646C>T (p.Arg216Trp)	GATA1	Apr 17, 2014	MedGen:C1839161,OMIM:314050,Orphanet:ORPHA231393	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis	germline	X	48792370	AACTGCGGAGCAACAGCCACTCCACTGTGGCGGAGGGACAGGACAGGCCACTACCTATGCA
794728615	197564	NM_130799.2(MEN1):c.85C>T (p.Arg29Ter)	MEN1	Oct 16, 2016	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1	germline	11	64810025	GTGGTGCGCCTGTTTGCTGCCGAGCTGGGCCGAGAGGAGCCGGACCTGGTGCTCCTTTCCT
751030969	440146	NM_001080463.1(DYNC2H1):c.5087C>T (p.Thr1696Met)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	11	103170226	ATCCTTATGGACCAGCTGGAACTGGGAAAACGGAATCAGTAAAGGCTTTAGGTGGACTTCT
587778833	132298	NM_000321.2(RB1):c.1909C>T (p.Gln637Ter)	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48456298	AATGCAGAGACACAAGCAACCTCAGCCTTCCAGACCCAGAAGCCATTGAAATCTACCTCTC
104894026	19519	NM_001002010.2(NT5C3A):c.646C>T (p.Gln216Ter)	NT5C3A	Jun 01, 2001	MedGen:C1849507,OMIM:266120,Orphanet:ORPHA35120	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to	germline	7	33017501	ATCGGCGATGTACTAGAGGAAGTTATTCGTCAAGCTGGTGTTTATCATCCCAATGTCAAAG
587782695	152468	NM_002878.3(RAD51D):c.547C>T (p.Gln183Ter)	RAD51D	Jun 08, 2017	MedGen:C3280345,OMIM:614291;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome	germline	17	35106415	TTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGG
373145711	39943	NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1	Jun 06, 2014	Human Phenotype Ontology:HP:0001273,MedGen:C1842581;MedGen:C0796232,OMIM:605039;Human Phenotype Ontology:HP:0002194,MedGen:C1837658;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;MedGen:C0424605;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001076,MedGen:C1854408;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000998,MedGen:C0020555,Orphanet:ORPHA79365,SNOMED CT:29966009;Human Phenotype Ontology:HP:0010864,MedGen:C0036857;Human Phenotype Ontology:HP:0005487,MedGen:C1857949;Human Phenotype Ontology:HP:0001518,MedGen:C0021288;MedGen:CN239855	Abnormality of the corpus callosum;C-like syndrome;Delayed gross motor development;Delayed speech and language development;Developmental delay;Feeding difficulties;Glabellar hemangioma;Global developmental delay;Hypertrichosis;Intellectual disability, severe;Prominent metopic ridge;Small for gestational age;dystrophia	germline;unknown	20	32433408	CGTATACAGCGTGGTCCAGCCACCCGACAGCGAGATGGGCATTTTAAGAAACGCTCTCGGC
281865468	40355	NM_001193466.1(KANSL1):c.916C>T (p.Gln306Ter)	KANSL1	Nov 20, 2012	Gene:791085,MedGen:C1864871,OMIM:610443	Koolen-de Vries syndrome	germline	17	46171228	AGCCGTGCCCGCAGATTACAAAAGCGCTTACAGGTTGTGCAAGCCAAGCAGGTTGAGAGGC
397515423	48371	NM_002633.2(PGM1):c.1507C>T (p.Arg503Ter)	PGM1	Nov 08, 2012	MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646	Congenital disorder of glycosylation type 1t	germline	1	63654374	ATTTTCACAGATGGTTCTCGAATCGTCTTCCGACTGAGCGGCACTGGGAGTGCCGGGGCCA
121909087	22353	NM_004560.3(ROR2):c.355C>T (p.Arg119Ter)	ROR2	Dec 22, 2015	MedGen:C1849334,OMIM:268310,Orphanet:ORPHA1507;MedGen:CN517202	Robinow syndrome, autosomal recessive;not provided	germline;unknown	9	91757380	ATCATCATCCGGAAGACAGAATATGGTTCACGACTGCGAATCCAGGACCTGGACACGACAG
104894020	22522	NM_001540.4(HSPB1):c.544C>T (p.Pro182Ser)	HSPB1	Jan 01, 2005	MedGen:C2608087,OMIM:608634	Distal hereditary motor neuronopathy type 2B	germline	7	76304099	CTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTG
794728537	197504	NM_000218.2(KCNQ1):c.1780C>T (p.Arg594Ter)	KCNQ1	Jan 11, 2016	MedGen:CN517202	not provided	germline	11	2778023	GGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCG
104894168	16874	NM_016065.3(MRPS16):c.331C>T (p.Arg111Ter)	MRPS16	Nov 01, 2004	MedGen:C1864843,OMIM:610498,Orphanet:ORPHA254920	Combined oxidative phosphorylation deficiency 2	germline	10	73250935	CCTATGATGATCACAAATGCTGAGAGACTGCGAAGGAAACGGGCACGTGAAGTCCTGTTAG
121912639	22552	NM_002496.3(NDUFS8):c.254C>T (p.Pro85Leu)	NDUFS8	May 25, 2004	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	11	68033165	TGTTCCGGGAACCGGCCACCATCAACTACCCGTTCGAGAAGGGCCCGCTGAGCCCTCGCTT
121918793	79561	NM_006920.4(SCN1A):c.5693C>T (p.Thr1898Ile)	SCN1A	May 01, 2017	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	165991549	CCAAGGTCTCCTATCAGCCAATCACTACTACTTTAAAACGAAAACAAGAGGAAGTATCTGC
749827445	224973	NM_173560.3(RFX6):c.2596C>T (p.Arg866Ter)	RFX6	Mar 07, 2016	MedGen:C2748662,OMIM:615710,Orphanet:ORPHA293864	Mitchell-Riley syndrome	germline	6	116928956	TACACAGACACATCATCTCCAGTTGCATGTCGAACTCCAGTCCTAGGTAAATTATTTTAGC
121907966	18954	NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys)	HEXA	Sep 29, 2016	MedGen:CN068775;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Gm2-gangliosidosis, adult-onset;Tay-Sachs disease	germline;unknown	15	72345477	TTGACATCTGACCTGACATTTGCCTATGAACGTTTGTCACACTTCCGCTGTGAATTGCTGA
137852361	25151	NM_000132.3(F8):c.5113C>T (p.Gln1705Ter)	F8	Jan 01, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154928677	GATTTTGACATTTATGATGAGGATGAAAATCAGAGCCCCCGCAGCTTTCAAAAGAAAACAC
-1	439623	NC_000006.12:g.99593164C>T	-	Sep 07, 2017	Gene:4167,MedGen:C0730294,OMIM:136550,Orphanet:ORPHA75327,SNOMED CT:312925009	North Carolina macular dystrophy	germline	6	99593164	ATTATGTAACAGTTTGCTACAGGAAATTAACCCCAGAAGAGAGAAAAAACAATCACTGGAA
201253919	39192	NM_004153.3(ORC1):c.1996C>T (p.Arg666Trp)	ORC1	Feb 27, 2011	MedGen:CN030358,OMIM:224690	Meier-Gorlin syndrome 1	germline	1	52383437	ATGGACCTGCCAGAGCGAATCATGATGAACCGGGTGTCCAGCCGACTGGTAGGTTCTAGGG
121913499	362770	NM_001282387.1(IDH1):c.394C>T (p.Arg132Cys)	IDH1	May 31, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MeSH:D003528,MedGen:C0010606;Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0006740,MedGen:C0279680	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenoid cystic carcinoma;Astrocytoma;Brainstem glioma;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Malignant melanoma of skin;Medulloblastoma;Multiple myeloma;Myelodysplastic syndrome;Neoplasm of brain;Neoplasm of the breast;Transitional cell carcinoma of the bladder	somatic	2	208248389	AGTGGATGGGTAAAACCTATCATCATAGGTCGTCATGCTTATGGGGATCAAGTAAGTCATG
527236031	152912	NM_015937.5(PIGT):c.1342C>T (p.Arg448Trp)	PIGT	Apr 25, 2016	MedGen:C3809356,OMIM:615398,Orphanet:ORPHA369837	Multiple congenital anomalies-hypotonia-seizures syndrome 3	germline;inherited	20	45424323	TCAGTCACCAAGGTTTCCATCCAGTTTGAGCGGGCGCTGCTGAAGTGGACCGAGTACACGC
-1	446292	NM_172107.3(KCNQ2):c.430C>T (p.Arg144Trp)	KCNQ2	Oct 04, 2017	MedGen:CN517202	not provided	germline	20	63445322	ATCGTGGTGTTTGGCGTGGAGTACTTCGTGCGGATCTGGGCCGCAGGCTGCTGCTGCCGGT
863223778	210202	NM_000192.3(TBX5):c.1126C>T (p.Gln376Ter)	TBX5	Sep 11, 2015	MedGen:CN517202	not provided	germline	12	114355963	GCCTCCTACAGGACAGAGTCGGCACAGCGGCAAGCTTGCATGTATGCCAGCTCTGCGCCCC
267606696	23548	NM_001127221.1(CACNA1A):c.5455C>T (p.Arg1819Ter)	CACNA1A	Jan 12, 2002	MedGen:C4016713	Episodic ataxia, type 2, and epilepsy	germline	19	13230158	GTCATCATGGACAACTTTGAGTACCTCACCCGAGACTCCTCCATCCTGGGCCCCCACCACC
387907275	45750	NM_001197104.1(KMT2A):c.7144C>T (p.Arg2382Ter)	KMT2A	Feb 05, 2013	MedGen:C1854630,OMIM:605130,Orphanet:ORPHA319182	Wiedemann-Steiner syndrome	germline	11	118503036	CACCTCCATTTGAGAGGGCAAAGGAATGATCGAGACCAACACACAGATTCTACCCAATCAG
1057520672	373840	NM_000051.3(ATM):c.8641C>T (p.Gln2881Ter)	ATM	Apr 27, 2015	MedGen:CN517202	not provided	germline	11	108347335	AGACATGTACAGAATATCTTGATAAATGAGCAGTCAGCAGAACTTGTACATATAGATCTAG
371077728	150667	NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter)	MRE11	May 09, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	94467821	AATTCTCACCAGCCAGAGAAGCCTCTTGTACGACTGCGAGTAAGTCCTATTTATATAGATT
45580035	67431	NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp)	BRCA2	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	13	32380043	GATGAAATTTTATTTCAGATTTACCAGCCACGGGAGCCCCTTCACTTCAGCAAATTTTTAG
1064793900	408520	NM_170665.3(ATP2A2):c.1429C>T (p.Gln477Ter)	ATP2A2	Aug 06, 2015	MedGen:CN517202	not provided	germline	12	110339290	CCATATTTGTTCCCTTTGTAGGTCATTAAACAGCTGATGAAAAAGGAATTCACTCTAGAGT
118203983	16397	NM_170740.1(ALDH5A1):c.1273C>T (p.Arg425Ter)	ALDH5A1	Dec 01, 2003	MedGen:C0268631,OMIM:271980,Orphanet:ORPHA22,SNOMED CT:49748000	Succinate-semialdehyde dehydrogenase deficiency	germline	6	24528057	AAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAACTTGGAAAAAATTTCTTTGAGC
200693106	229579	NM_001277115.1(DNAH11):c.6244C>T (p.Arg2082Ter)	DNAH11	Jan 07, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21702773	TCTGTCTTGGTTGTGGCTGGATCTCTGAAACGAGGAGATAAAAATAGACCCGAAGATCAGG
45517222	59293	NM_000548.4(TSC2):c.2251C>T (p.Arg751Ter)	TSC2	Oct 06, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2072879	CTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTG
397517689	56466	NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	TTN	Jan 27, 2017	MedGen:C1858763,OMIM:604145;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1G;Primary dilated cardiomyopathy;not provided	germline	2	178574530	ATTTTAGGATATCATGTTGAAAGAAAAGAACGAAATGGTATTCTCTGGCAGACTGTGAGCA
62619935	132769	NM_000038.5(APC):c.646C>T (p.Arg216Ter)	APC	Jun 29, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline	5	112792446	TAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAA
137941190	359140	NM_014026.5(DCPS):c.947C>T (p.Thr316Met)	DCPS	Jul 10, 2015	MedGen:C4085595,OMIM:616459	AL-RAQAD SYNDROME	germline	11	126345546	AGTGTGACCCTAGGCACTACCAGCAGCGCACGCTCACCTTCGCCCTCAGGGCTGACGACCC
28934908	26862	NM_004992.3(MECP2):c.419C>T (p.Ala140Val)	MECP2	Jul 19, 2017	Human Phenotype Ontology:HP:0000494,MedGen:C0423110;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C1968550,OMIM:300055;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0000347,MedGen:C0025990;Human Phenotype Ontology:HP:0001270,MedGen:C1854301;Human Phenotype Ontology:HP:0008897,MedGen:C1859778;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;Human Phenotype Ontology:HP:0000402,MedGen:C0395837;MedGen:CN517202	Downslanted palpebral fissures;Hearing impairment;Intellectual disability;Mental retardation, X-linked, syndromic 13;Microcephaly;Micrognathia;Motor delay;Postnatal growth retardation;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;Stenosis of the external auditory canal;not provided	germline;unknown	X	154031409	AAGCCTTTCGCTCTAAAGTGGAGTTGATTGCGTACTTCGAAAAGGTAGGCGACACATCCCT
121908566	20922	NM_005751.4(AKAP9):c.4709C>T (p.Ser1570Leu)	AKAP9	Dec 26, 2007	MedGen:C2678483,OMIM:611820	Long QT syndrome 11	germline	7	92040690	TTTTACTATTAAAGATTCATGATGAGATTTCAGTGTCAAGCATGGATGCTTCTAGACAACT
750019452	186893	NM_000053.3(ATP7B):c.2804C>T (p.Thr935Met)	ATP7B	Dec 21, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51949723	TCCCATTTATCATCATCATGTCAACTTTGACGTTGGTGGTATGGATTGTAATCGGTTTTAT
121908105	19290	NM_001080467.2(MYO5B):c.1966C>T (p.Arg656Cys)	MYO5B	Oct 01, 2008	MedGen:C0341306,OMIM:251850,Orphanet:ORPHA2290,SNOMED CT:235729009	Congenital microvillous atrophy	germline	18	49936289	ACCCTGAATGCCACGACACCTCACTATGTCCGCTGCATCAAGCCCAACGATGAGAAGCTCC
373856119	48279	NM_015214.2(DDHD2):c.1546C>T (p.Arg516Ter)	DDHD2	Jan 25, 2013	MedGen:C3539495,OMIM:615033,Orphanet:ORPHA320380	Spastic paraplegia 54, autosomal recessive	germline	8	38252216	GGATCTCCCATTGGAATGTTCCTTACTGTCCGAGGACTAAAAAGAATTGATCCCAACTACA
118192175	28012	NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys)	RYR1	Sep 18, 2015	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN031421,OMIM:145600;MedGen:CN517202	Central core disease;Malignant hyperthermia, susceptibility to, 1;not provided	germline;unknown	19	38494564	ATGAGCCTGCTCGAGTGCCTCGGCCAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCC
1039571136	377246	NM_001396.4(DYRK1A):c.932C>T (p.Ser311Phe)	DYRK1A	Jan 06, 2017	MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;MedGen:CN517202	Mental retardation, autosomal dominant 7;not provided	de novo;germline	21	37490442	GTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTAT
121918548	20079	NM_015665.5(AAAS):c.1432C>T (p.Arg478Ter)	AAAS	May 10, 2017	MedGen:C0271742,OMIM:231550,Orphanet:ORPHA869,SNOMED CT:45414006;MedGen:CN517202	Glucocorticoid deficiency with achalasia;not provided	germline	12	53307698	TTCCCTTCTCTGCAGGGCTGGTCCACAGGCCGAATTGCCCACATCCCGCTGTACTTTGTCA
114342808	152885	NM_201253.2(CRB1):c.1576C>T (p.Arg526Ter)	CRB1	Nov 07, 2014	MedGen:C3151202,OMIM:613835;MedGen:C1838647,OMIM:600105	Leber congenital amaurosis 8;Retinitis pigmentosa 12	germline;unknown	1	197421404	ACTGTTCAGCCAATGGCTCTTCTACTTTTCCGAAGCAACAGGGATGTGTTTGTGAAGCTGG
948246694	411266	NM_000444.5(PHEX):c.670C>T (p.Gln224Ter)	PHEX	Feb 22, 2017	MedGen:CN517202	not provided	germline	X	22090435	TGCTTTCTGTTTTTGTTTTTACAGCTGGACCAAGCAACACTCTCCCTGGCCGTGAGGGAAG
74315349	20465	NM_021969.2(NR0B2):c.100C>T (p.Arg34Ter)	NR0B2	Jan 16, 2001	MedGen:C4016893	Obesity, mild, early-onset	germline	1	26913841	CTTCTGAGCTCCAGCCTCAAGGCTGTCCCCCGACCCCGTAGCCGCTGCCTATGTAGGCAGC
398124474	102249	NM_133433.3(NIPBL):c.8377C>T (p.Arg2793Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37064854	AAGCTGACTAATAAAGTTGTTCAGACTTTACGATCCCTGTATGCCGCCAAGGATGGGACTT
797045760	207231	NM_133433.3(NIPBL):c.4495C>T (p.Gln1499Ter)	NIPBL	Dec 05, 2014	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37010160	ATGGTTACAGCACTGGTTTTACAACTTATTCAGTGTGTGGTACACTTACCATCATCAGAGA
-1	477634	NM_024675.3(PALB2):c.1675C>T (p.Gln559Ter)	PALB2	Jun 21, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23634871	CACAAATATCAGCACGAAAAATTATTTATTCAAGTGAAAGGTAAATCAAGATGTGTTTGAT
61755320	51184	NM_003119.3(SPG7):c.1529C>T (p.Ala510Val)	SPG7	Sep 12, 2017	MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006;MedGen:CN239433;MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013;MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013;MedGen:CN517202	Hereditary spastic paraplegia;Spastic Paraplegia, Recessive;Spastic paraplegia 7;Spastic paraplegia 7;not provided	germline;inherited;maternal;paternal;unknown	16	89546737	AGTCCAGCACCTTTTACTCCCAGCGTCTGGCAGAGCTGACACCAGGATTCAGTGGTACGTT
770845480	243797	NM_004006.2(DMD):c.5506C>T (p.Gln1836Ter)	DMD	Dec 19, 2015	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32346023	GAATTGTTGCAAAGAGGAGACAACTTACAACAAAGAATCACAGATGAGAGAAAGCGAGAGG
527236158	15244	NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met)	KCNJ18	Jul 31, 2014	MedGen:C0268446,OMIM:188580,Orphanet:ORPHA79102,SNOMED CT:30967002;MedGen:C2750473,OMIM:613239	Thyrotoxic periodic paralysis;Thyrotoxic periodic paralysis 2	germline	17	21703847	ACTTCCACAAGACCTATGAGGTGCCCTCTACGCCCCGCTGCAGTGCGAAGGATCTGGTAGA
1131691616	422499	NM_018684.3(ZC4H2):c.199C>T (p.Arg67Ter)	ZC4H2	Apr 13, 2017	MedGen:CN517202	not provided	germline	X	64921843	CAGGAGAAGATGGCCCATGTGGAGGAACTCCGACTGATCCACGCTGACATCAATGTGGTAC
387906712	38908	NM_013444.3(UBQLN2):c.1525C>T (p.Pro509Ser)	UBQLN2	Aug 21, 2011	MedGen:C3275459,OMIM:300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	germline	X	56565398	GGCCCCATAGGCCCTATAGTCCCTTTTACCCCCATAGGCCCCATTGGGCCCATAGGACCCA
397514524	48127	NM_000359.2(TGM1):c.376C>T (p.Arg126Cys)	TGM1	Jan 18, 2013	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24261827	GACTTGCTGAGCTCGCGCTCGGACCAGAACCGCCGAGAGCACCACACAGACGAGTATGAGT
151071780	36330	NM_000060.4(BTD):c.262C>T (p.Gln88Ter)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15635641	AGCCGCCAAGAGGCCTTGGAGCTCATGAACCAGAACCTTGACATCTATGAACAGCAAGTGA
121913047	31624	NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter)	ERCC3	Nov 01, 2006	MedGen:C1970808,OMIM:610651	Xeroderma pigmentosum, complementation group b	germline	2	127286772	CACACCACCAAAAGGTCCTGGGAGGCCGAGCGAGTCATGGAGTGGCTCAAGACCCAGGAGT
121434554	32190	NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter)	COL6A3	Jun 01, 2002	MedGen:CN033863,OMIM:254090	Ullrich congenital muscular dystrophy 1	germline	2	237381419	GCACTGGGACTGGCCAACTTCAATGCCATCCGAGACTTCATTGCTAAAGTCATCCAGAGGC
587779646	107128	NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008113	CATCCAGGTCCCATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGG
886039853	260672	NM_000050.4(ASS1):c.851C>T (p.Thr284Ile)	ASS1	Sep 01, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130489345	GCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCA
387906683	38840	NM_001040142.1(SCN2A):c.304C>T (p.Arg102Ter)	SCN2A	Dec 13, 2017	MedGen:C3150987,OMIM:613721	Early infantile epileptic encephalopathy 11	de novo;germline	2	165297053	ATAGTATTGAATAAAGGGAAAGCAATCTCTCGATTCAGTGCCACCCCTGCCCTTTACATTT
387907284	45782	NM_005585.4(SMAD6):c.1244C>T (p.Pro415Leu)	SMAD6	Apr 01, 2012	MedGen:C3542024,OMIM:614823	Aortic valve disease 2	germline	15	66781288	GCGGCGAGCACCCCATCTTCGTCAACTCCCCGACGCTGGACGCGCCCGGCGGCCGCGCCCT
146686141	481565	NM_002016.1(FLG):c.4420C>T (p.Arg1474Ter)	FLG	Nov 15, 2017	MedGen:CN517202	not provided	germline	1	152310466	GGAAGACAAGGATCCCGCCATGAGCAGGCACGAAACAGCTCTAGGCACTCAGCATCCCAAG
1064796879	411366	NM_003688.3(CASK):c.1480C>T (p.Gln494Ter)	CASK	Mar 16, 2017	na;MedGen:CN517202	CASK-Related Disorder;not provided	germline;unknown	X	41578363	AATGTGACCAGAGTTCGGCTGGTACAGTTTCAAAAGAACACAGATGAACCAATGGTAAGTA
370974124	231721	NM_000136.2(FANCC):c.1663C>T (p.Arg555Ter)	FANCC	Nov 21, 2016	MedGen:C3468041,OMIM:227645;MedGen:CN517202	Fanconi anemia, complementation group C;not provided	germline;paternal	9	95101721	AAACTGGCCCGAGAGCTCCTTAAAGAGCTGCGAACTCAAGTCTAGAAGGCACGCAGGCCGT
183942200	442629	NM_002016.1(FLG):c.2362C>T (p.Arg788Ter)	FLG	Jul 18, 2017	MedGen:CN517202	not provided	germline	1	152312524	TCCGCACGTGACCGGTCAGGGGAAAGGTCTCGACGTTCAGGGTCTTTCCTCTACCAGGTGA
121912425	29840	NM_002222.5(ITPR1):c.3176C>T (p.Pro1059Leu)	ITPR1	Jun 12, 2014	MedGen:C1847725,OMIM:606658,Orphanet:ORPHA98769	Spinocerebellar ataxia 15	germline	3	4683472	TCCTGCTCCACTTGACGATGCATGACTACCCACCCCTGGTGTCAGGGGCCCTGCAGCTCCT
-1	439157	NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys)	KMT2D	Jul 19, 2017	MedGen:CN517202	not provided	de novo	12	49026878	TTGCGACCTGACAAGGTACCGCGAGACATGCGTCGCTGCTGTTTCTGTCATGAGGAGGGTG
730881970	181053	NM_000455.4(STK11):c.409C>T (p.Gln137Ter)	STK11	Sep 15, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	1219358	ATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGC
786204798	187145	NM_015270.4(ADCY6):c.3346C>T (p.Arg1116Cys)	ADCY6	May 01, 2014	MedGen:C4225385,OMIM:616287	Lethal congenital contracture syndrome 8	germline	12	48768972	ATCTGGGGGAACACAGTGAATGTCTCTAGTCGTATGGACAGCACGGGGGTCCCCGACCGAA
766503255	59387	NM_000419.4(ITGA2B):c.3076C>T (p.Arg1026Trp)	ITGA2B	May 03, 2013	MedGen:C1861195,OMIM:187800	Platelet-type bleeding disorder 16	germline	17	44372408	CCCGTGTACCCCCAGGTCGGCTTCTTCAAGCGGAACCGGCCACCCCTGGAAGAAGATGATG
-1	481358	NM_080916.2(DGUOK):c.155C>T (p.Ser52Phe)	DGUOK	Nov 08, 2017	MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	paternal	2	73938922	ATGCTATTTGCATTGCAGCTGTGGGAAAGTCCACGTTTGTGAAGTTACTCACGAAAACTTA
483352889	136643	NM_000271.4(NPC1):c.2128C>T (p.Gln710Ter)	NPC1	-	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23544346	GACAACATCTTCATTCTGGTGCAGGCCTACCAGGTATACTTCCATATTCTCACAGGGCTCA
74315386	23417	NM_000557.4(GDF5):c.901C>T (p.Arg301Ter)	GDF5	Sep 01, 1997	Human Phenotype Ontology:HP:0009373,MedGen:C1862103,OMIM:113100,Orphanet:ORPHA93384	Type C brachydactyly	germline	20	35434514	TGGGAGGTGTTCGACATCTGGAAGCTCTTCCGAAACTTTAAGAACTCGGCCCAGCTGTGCC
730881701	181116	NM_007194.3(CHEK2):c.409C>T (p.Arg137Ter)	CHEK2	Sep 15, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	22	28725278	GAACCACTGCTGAAAAGAACAGATAAATACCGAACATACAGCAAGAAACACTTTCGGATTT
74315428	18367	NM_020436.4(SALL4):c.2713C>T (p.Arg905Ter)	SALL4	Jan 15, 2015	MedGen:C1623209,OMIM:607323,Orphanet:ORPHA93293	Duane-radial ray syndrome	germline	20	51788890	GAGAAGCCTTTTGTGTGCAACATTTGTGGGCGAGCTTTTACCACCAAAGGCAACTTAAAGG
113994135	33343	NM_139276.2(STAT3):c.1144C>T (p.Arg382Trp)	STAT3	Apr 10, 2017	MedGen:C0022398,OMIM:147060,SNOMED CT:50926003;MedGen:CN517202	Hyperimmunoglobulin E syndrome;not provided	germline	17	42329643	TAGTTGATTGTTCCCCTGTGATTCAGATCCCGGAAATTTAACATTCTGGGCACAAACACAA
387906595	38566	NM_001253823.1(BLVRA):c.52C>T (p.Arg18Ter)	BLVRA	Aug 01, 2009	MedGen:C3279964,OMIM:614156,Orphanet:ORPHA276405	Hyperbiliverdinemia	germline	7	43787943	AAGTTTGGCGTGGTGGTGGTTGGTGTTGGCCGAGCCGGCTCCGTGCGGATGAGGGACTTGC
145221454	59856	NM_017563.4(IL17RD):c.1403C>T (p.Ser468Leu)	IL17RD	May 02, 2013	MedGen:C4016983	Hypogonadotropic hypogonadism 18 with anosmia	germline	3	57098300	CCGAAAAGCTCCGCCAGGCCAAGCAGAGTTCGTCCGCGGCGCTCAGCAAGTTTATCGCCGT
121913657	29122	NM_002473.5(MYH9):c.287C>T (p.Ser96Leu)	MYH9	May 28, 2016	MedGen:C1863659,OMIM:603622;MedGen:C0398641,OMIM:153650,SNOMED CT:234485006;MedGen:CN073381,Orphanet:ORPHA182050	Deafness, autosomal dominant nonsyndromic sensorineural 17;Epstein syndrome;MYH9 related disorders	germline;paternal	22	36348950	TGGCAGAGCTCACGTGCCTCAACGAAGCCTCGGTGCTGCACAACCTCAAGGAGCGTTACTA
672601362	171780	NM_001244008.1(KIF1A):c.173C>T (p.Ser58Leu)	KIF1A	Mar 10, 2016	MedGen:C3280283,OMIM:614255	Mental retardation, autosomal dominant 9	de novo;germline	2	240789246	AAAGCTTCAGCTTTGACTACTCCTACTGGTCGCACACCTCAGTAAGCCGGGACCCCGGGTC
199614299	361950	NM_001282225.1(ADA2):c.145C>T (p.Arg49Trp)	ADA2	Jan 13, 2017	MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:310701003	Behcet's syndrome	germline	22	17209533	TTGAAAGAAAAGATGATGCGGCTGGGGGGGCGGCTGGTGCTGAACACCAAGGAGGAGCTGG
1085307639	415762	NM_004586.2(RPS6KA3):c.1894C>T (p.Arg632Ter)	RPS6KA3	Apr 14, 2017	MedGen:CN517202	not provided	germline	X	20161709	CCTGATGATACACCAGAGGAAATATTGGCACGAATAGGTAGCGGAAAATTCTCACTCAGTG
121912739	32826	NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter)	NPR2	Jul 01, 2004	MedGen:C1864356,OMIM:602875,Orphanet:ORPHA40	Acromesomelic dysplasia Maroteaux type	germline	9	35800427	GGGCTGGTTGTCATGGACAAGAACAATGACCGAGAGACTGACTTTGTCCTCTGGGCCATGG
587777459	143126	NM_001242896.1(DEPDC5):c.1459C>T (p.Arg487Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31815005	TGTCTCTTGCCTGGCAGATCTGTGCGAGAGCGAGAGAGTCACAGTCGAAAGAGTGCCAGCT
770045897	264144	NM_005677.3(COLQ):c.679C>T (p.Arg227Ter)	COLQ	Sep 09, 2016	MedGen:CN517202	not provided	germline	3	15470574	CCAAAAGGTGAACCTGGGATAGCAGGACACCGAGGACCCACAGGAAGACCAGGAAAACGAG
387906629	38664	NM_032638.4(GATA2):c.1192C>T (p.Arg398Trp)	GATA2	Jun 14, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MedGen:C3280030,OMIM:614172,Orphanet:ORPHA228423;MedGen:CN118027	Acute myeloid leukemia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Leukemia, acute myeloid, susceptibility to	germline;somatic	3	128481270	ATGAAGAAGGAAGGGATCCAGACTCGGAACCGGAAGATGTCCAACAAGTCCAAGAAGAGCA
-1	446859	NM_004523.3(KIF11):c.2230C>T (p.Gln744Ter)	KIF11	Dec 18, 2017	MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	unknown	10	92639863	TGTGCTTTGGAGGAAAAGTGTGAAAATATACAGAAACCACTTAGTAGTGTCCAGGAAAATA
398124160	100985	NM_004463.2(FGD1):c.175C>T (p.Gln59Ter)	FGD1	Oct 09, 2012	MedGen:C0175701,OMIM:305400,SNOMED CT:14921002	Aarskog syndrome	germline	X	54495258	GGTTCGGCTCTTGGCGGCCCACTGGATCCCCAGTTTGTCGGACCCTCGGACACCAGCCTGG
137852994	19999	NM_018136.4(ASPM):c.9178C>T (p.Gln3060Ter)	ASPM	May 04, 2015	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197093168	CTTCGGCAGAAATCTGCTGCTTTGATCATACAAAAATATATACGAGCCAGGGAGGCTGGAA
762616589	362101	NM_015697.7(COQ2):c.905C>T (p.Ala302Val)	COQ2	Jun 07, 2016	MedGen:CN229570,Orphanet:ORPHA35656	Coenzyme Q10 deficiency, primary	germline	4	83269867	TGTGGACACTAATATATGATACTATTTATGCCCATCAGGTAAAGAAATTATCTTTTCTTAA
397514438	47165	NM_000060.4(BTD):c.758C>T (p.Pro253Leu)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644614	TCACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAGGT
72554650	209263	NM_000052.6(ATP7A):c.2956C>T (p.Arg986Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78029289	AGAAGTATCTCCCGAACAGAAACGATAATACGATTTGCTTTCCAAGCCTCTATCACAGTTC
8192466	32735	NM_170731.4(BDNF):c.29C>T (p.Thr10Ile)	BDNF	Feb 01, 2002	MedGen:C1275808,OMIM:209880,Orphanet:ORPHA661,SNOMED CT:399040002	Congenital central hypoventilation	germline	11	27658560	TACAGTTCCACCAGGTGAGAAGAGTGATGACCATCCTTTTCCTTACTATGGTTATTTCATA
104894930	24934	NM_000330.3(RS1):c.608C>T (p.Pro203Leu)	RS1	Jun 09, 2016	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;MedGen:CN517202	Juvenile retinoschisis;not provided	germline;unknown	X	18642071	CCATCATCTCCCGCTTCATCCGCCTCATCCCGCTGGGCTGGCACGTCCGCATTGCCATCCG
137853001	19970	NM_033056.3(PCDH15):c.7C>T (p.Arg3Ter)	PCDH15	Jun 15, 2017	MedGen:C1865885,OMIM:602083	Usher syndrome, type 1F	germline;unknown	10	54664256	GCTTTGAGTGAACTTTGACAGAAGATGTTTCGACAGTTTTATCTCTGGACATGTTTAGCTT
757013900	240043	NM_001277115.1(DNAH11):c.4621C>T (p.Arg1541Ter)	DNAH11	Feb 01, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21635991	TTGGTCATCTTCACTTGGATGGAAGTCCAGCGAACTTGGTCTCACCTGGAAAGCATTTTTG
587783972	168441	NM_133433.3(NIPBL):c.5365C>T (p.Arg1789Ter)	NIPBL	Apr 18, 2014	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37022087	CGAGTTCTTGGTGAAAATGCAATTGCTGTTCGAACAAAAGCCATGAAGTGTTTGTCTGAGG
760798455	431711	NM_001142800.1(EYS):c.2620C>T (p.Gln874Ter)	EYS	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	6	64912505	TCAACATGCTTAGCTTTGGTAGACGCAAATCAGCATTGTATTTGTAGAGAAGGTAAGAGCT
398123028	70511	NM_001003800.1(BICD2):c.320C>T (p.Ser107Leu)	BICD2	Jun 06, 2013	Human Phenotype Ontology:HP:0007269,MedGen:C0026847,SNOMED CT:5262007;MedGen:C3809049,OMIM:615290,Orphanet:ORPHA363454	Spinal muscular atrophy;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	de novo;germline	9	92729157	AGAGCCGGGAGGAGAGCCTGATCCAGGAGTCGGCCTCCAAGGAGCAGTACTACGTGCGGAA
765443042	264297	NM_183227.2(RAB23):c.82C>T (p.Arg28Ter)	RAB23	Jun 19, 2017	MedGen:C1275078,OMIM:201000;MedGen:CN517202	Carpenter syndrome 1;not provided	germline	6	57210299	GGAGCAGTTGGAAAATCAAGTATGATTCAGCGATATTGCAAAGGCATTTTTACAAAAGACT
775710800	384491	NM_033028.4(BBS4):c.883C>T (p.Arg295Ter)	BBS4	-	MedGen:C2936864,OMIM:615982	Bardet-Biedl syndrome 4	germline	15	72731573	TCTCTCTCATAGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGA
201908721	359234	NM_020247.4(COQ8A):c.895C>T (p.Arg299Trp)	COQ8A	Jun 07, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485;MedGen:CN517202	Coenzyme Q10 deficiency, primary, 4;not provided	germline	1	226982719	ATCAACCCCCACCTGGCTAAGATCTTCGAGCGGGTGCGGCAGAGCGCGGACTTCATGCCAC
1057519569	362373	NM_173494.1(PIH1D3):c.355C>T (p.Gln119Ter)	PIH1D3	Feb 08, 2017	MedGen:CN240511,OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	germline	X	107222767	TTTTTCAGGTATGAGATTATATTCAGACAGCAGGTGGGAACTGAAGATATATTTTTAGGGT
80358248	27488	NM_152263.3(TPM3):c.94C>T (p.Gln32Ter)	TPM3	Sep 18, 2014	MedGen:C1836448,OMIM:609284;MedGen:CN517202	Nemaline myopathy 1;not provided	germline	1	154191925	CGGGCAGAGCAAGCTGAAGCTGAGCAGAAGCAGGCAGAAGAAAGAAGTAAACAGGTAGGCA
76554633	22240	NM_000492.3(CFTR):c.1654C>T (p.Gln552Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117587808	GGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGGTGAA
113994035	19157	NM_001034116.1(EIF2B4):c.1120C>T (p.Arg374Cys)	EIF2B4	Feb 01, 2002	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	2	27366830	CGGCCATGGCTGGAAGGAAGGCACACACTACGTTCTCTAGTCCATGCTGGTGTCCCAGCCT
180177238	150265	NM_000030.2(AGXT):c.560C>T (p.Ser187Phe)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240873014	AGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCG
749282641	455119	NM_003060.3(SLC22A5):c.1411C>T (p.Arg471Cys)	SLC22A5	Aug 08, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline	5	132392576	ATGGGTGTGGGAGTCAGCTCCACAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTTCG
1057520720	376069	NM_004247.3(EFTUD2):c.1096C>T (p.Gln366Ter)	EFTUD2	May 27, 2015	MedGen:CN517202	not provided	germline	17	44867860	TTCACCAAAAAGGCCCCAACTAGCAGCTCCCAGAGAAGTTTCGTGGAGTTTATCTTGGAGC
869312917	226982	NM_006031.5(PCNT):c.2728C>T (p.Gln910Ter)	PCNT	Oct 24, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	21	46366702	GAGCTGCAGCTCCTCCAGGAGAGACACCAGCAGCAGCTCCTGTCAGTGACGGCGGAGCTCG
312262812	49516	NM_003611.2(OFD1):c.221C>T (p.Ser74Phe)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13736587	TAGAAGGGAGCTCCCTCTTAATAGGCGCCTCTAACTCTTTAGTGGCAGATCACTTACAAAG
569323391	465405	NM_198525.2(KIF7):c.157C>T (p.Arg53Ter)	KIF7	May 16, 2017	Gene:46,MedGen:C0796147,OMIM:200990,Orphanet:ORPHA36	Acrocallosal syndrome, Schinzel type	germline	15	89652774	GGGCTTGGCCGCGTCACTCTGGGCCGTGACCGACACTTTGGCTTCCACGTGGTGCTGGCCG
199469637	106417	NM_017415.2(KLHL3):c.430C>T (p.Gln144Ter)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137692381	GATGTTCGGCAGAACTGCTGTGACTTCCTGCAGTCTCAGTTGCATCCCACCAATTGCCTGG
63750047	16797	NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter)	MSH2	Jul 28, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED CT:403824007;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;Muir-Torré syndrome;not provided	germline	2	47475066	CCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACG
886037963	248902	NM_006545.4(NPRL2):c.100C>T (p.Arg34Ter)	NPRL2	Sep 21, 2016	MedGen:C4310709,OMIM:617116	Epilepsy, familial focal, with variable foci 2	germline	3	50350001	CCTCCCCAGGTCCCTGAAGACTTCATCTCCCGAGAGCTGTTTGACACAGTCCAAGTGTACA
371812716	39800	NM_018718.2(CEP41):c.1078C>T (p.Arg360Cys)	CEP41	Jan 15, 2012	MedGen:CN121474	Joubert syndrome 9/15, digenic	germline	7	130398935	GGTGGCGGCCCCGCCAGCCACTCAAACCCCCGCTCCCTCAGCAGTGGTCACCTGCAAGGCA
886041701	265066	NM_001008537.2(NEXMIF):c.1441C>T (p.Arg481Ter)	NEXMIF	Sep 13, 2017	MedGen:C3806730,OMIM:300912,Orphanet:ORPHA85277;MedGen:CN517202	Mental retardation, X-linked 98;not provided	germline	X	74743116	AGCTCCTCCTCCCAACAGAACTATGGGCTGCGAGCCAAGAGAAAAGTCAGATACAGTGAAG
756101090	422802	NM_005560.4(LAMA5):c.3728C>T (p.Pro1243Leu)	LAMA5	-	MedGen:C1305904,SNOMED CT:399094007	Familial hematuria	not applicable	20	62330867	TCCTCAGGGACTGCCAGGTGATCCCGCTGCCGCCCGGCCTCCCGCTGACCCACGCGCAGGA
147442301	39568	NM_000017.3(ACADS):c.164C>T (p.Pro55Leu)	ACADS	Jun 01, 2010	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007	Deficiency of butyryl-CoA dehydrogenase	germline	12	120727143	GCCGGGACTTTGCCGAGAAGGAGTTGTTTCCCATTGCAGCCCAGGTGGATAAGGAACATCT
397508072	67614	NM_000218.2(KCNQ1):c.1066C>T (p.Gln356Ter)	KCNQ1	Mar 09, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	11	2585245	ATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGGCAGAAGCACTTCAACC
72659361	19989	NM_006371.4(CRTAP):c.826C>T (p.Gln276Ter)	CRTAP	Oct 01, 2012	MedGen:C1853162,OMIM:610682	Osteogenesis imperfecta type 7	germline	3	33129971	CATTATGTAGAAGTTCTGGAATGCAAAATACAGTGTGAAGAGAACCTCACCCCAGTTATAG
79987078	20832	NM_014270.4(SLC7A9):c.368C>T (p.Thr123Met)	SLC7A9	Jun 01, 2007	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	19	32864206	CCTGGGCCAGCCTGATCGTCATTAAGCCCACGTCCTTCGCCATCATCTGCCTCAGCTTCTC
397508097	67664	NM_000218.2(KCNQ1):c.1588C>T (p.Gln530Ter)	KCNQ1	Aug 17, 2017	MedGen:C1837014,OMIM:607554;MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002;MedGen:CN034131,OMIM:220400;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:C1865019,OMIM:609621;MedGen:CN517202	Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome;Long QT syndrome 1;Short QT syndrome 2;not provided	germline;unknown	11	2768917	ATGCAGTACTTTGTGGCCAAGAAGAAATTCCAGGTAAGCCCTGTGCTGAGCCTTCCTGCCC
377177061	131774	NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter)	CC2D2A	Sep 16, 2013	MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005	Meckel-Gruber syndrome	germline	4	15502879	GAAATCCCCACTCCTCGGCCCAGACGCTTACGAAGTCCCAGTAAGAAAGAATTGGAGACTG
199422281	47897	NR_001566.1(TERC):n.323C>T	TERC	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	3	169764738	CCACCGCGAAGAGTTGGGCTCTGTCAGCCGCGGGTCTCTCGGGGGCGAGGGCGAGGTTCAG
1060503287	394478	NM_000038.5(APC):c.2635C>T (p.Gln879Ter)	APC	Dec 05, 2016	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112838229	AATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCA
150074056	223368	NM_000148.3(FUT1):c.349C>T (p.His117Tyr)	FUT1	Feb 09, 2016	MedGen:C1859411	Para-Bombay phenotype	germline	19	48750933	GGCCGCCGGGCCTTTATCCTGCCTGCCATGCATGCCGCCCTGGCCCCGGTATTCCGCATCA
74315441	31998	NM_000394.3(CRYAA):c.145C>T (p.Arg49Cys)	CRYAA	Oct 01, 2003	MedGen:C1858679,OMIM:604219	Cataract, autosomal dominant	germline	21	43169244	TTCCTGTCGTCCACCATCAGCCCCTACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACT
763820204	260026	NM_015665.5(AAAS):c.1159C>T (p.Gln387Ter)	AAAS	Feb 29, 2016	MedGen:CN517202	not provided	germline	12	53308457	ATTGTGGCAGATCTGTCTGAGACAACAATACAGACACCAGATGGTGAGGAGAGGTGAGCTG
397507215	46080	NM_007294.3(BRCA1):c.3352C>T (p.Gln1118Ter)	BRCA1	Oct 03, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	germline	17	43092179	ATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACTGTTAATACAGATTTCTCTCCATATC
797044512	178258	NM_000260.3(MYO7A):c.689C>T (p.Ala230Val)	MYO7A	Oct 12, 2016	MedGen:C1832475,OMIM:601317;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:CN169374	Deafness, autosomal dominant 11;Usher syndrome, type 1;not specified	germline	11	77156958	ACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTC
199472713	67759	NM_000218.2(KCNQ1):c.727C>T (p.Arg243Cys)	KCNQ1	Jul 08, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2572056	CTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCT
137852753	23851	NM_001204.6(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2	Mar 03, 2017	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:C1969342;MedGen:CN517202	Primary pulmonary hypertension;Pulmonary hypertension, primary, dexfenfluramine-associated;not provided	germline	2	202518831	CTTTCTTTAAAACACTTGCAGCTGATTGGCCGAGGTCGATATGGAGCAGTATATAAAGGCT
397514663	48770	NM_002335.3(LRP5):c.1655C>T (p.Thr552Met)	LRP5	Mar 14, 2013	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68403553	AGGACAAGCTCCCGCACATTTTTGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGA
267606777	17765	NM_177986.4(DSG4):c.865C>T (p.Arg289Ter)	DSG4	Jun 01, 2006	MedGen:C1842839,OMIM:607903	Hypotrichosis 6	germline	18	31392200	GAAGAGAATTGTTTAAGTTCGGAACTGATACGATTACAAGCAATTGATCTTGATGAAGAAG
116840748	46870	NM_000168.5(GLI3):c.2110C>T (p.Gln704Ter)	GLI3	Sep 13, 2012	MedGen:C0265220,OMIM:146510,Orphanet:ORPHA672,SNOMED CT:56677004	Pallister-Hall syndrome	not provided	7	41967917	TTCCTTTCCACTTGACCCCAACAGACATCTCAGCCAAGCCCTGGTGGTCAGTCTTCATGCA
121912703	33101	NM_000789.3(ACE):c.3683C>T (p.Pro1228Leu)	ACE	Dec 23, 2003	MedGen:C1862874	Angiotensin i-converting enzyme, benign serum increase	unknown	17	63496977	AGCTGGGCTGGCCGCAGTACAACTGGACGCCGAACTCCGGTACCGCCACCCACCCCACCTC
312262880	49502	NM_003611.2(OFD1):c.1420C>T (p.Gln474Ter)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13757668	TTTTTTTTTTTTACCTTCTTAGGCCTAGCTCAGCCGGCTCCTGAACTTGCAGTCTTTCAGA
796052802	203936	NM_001184880.1(PCDH19):c.619C>T (p.Arg207Ter)	PCDH19	Aug 12, 2013	MedGen:CN517202	not provided	germline	X	100407979	GACCGCGAGACGCAGTCGCACTACAGCTTCCGAATCACTGCGCTAGACGGTGGCGACCCGC
-1	473212	NM_000179.2(MSH6):c.3463C>T (p.Gln1155Ter)	MSH6	Mar 30, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47804934	TCACAGGCTGGCTTATTAGCTGTAATGGCCCAGATGGGTTGTTACGTCCCTGCTGAAGTGT
1054228594	459217	NM_014334.3(FRRS1L):c.874C>T (p.Arg292Ter)	FRRS1L	Jul 31, 2017	MedGen:C4310770,OMIM:616981	Epileptic encephalopathy, early infantile, 37	germline	9	109137616	TTCTCTTTTTTTCTTAAAGGCTCTATCACTCGACATGATATAGACTCACCGCCGGCTTCAG
121909257	23098	NM_005055.4(RAPSN):c.566C>T (p.Ala189Val)	RAPSN	Feb 01, 2008	MedGen:C1276035,OMIM:208150,SNOMED CT:401138005	Pena-Shokeir syndrome type I	germline	11	47442780	ACGAGAAAGCCCTGTTCTTCCCCTGCAAGGCGGCAGAGCTTGTCAACAACTATGGCAAAGG
764893806	214832	NM_005689.3(ABCB6):c.1123C>T (p.Arg375Trp)	ABCB6	Jan 01, 2013	Gene:541461,MedGen:C1836705,OMIM:609153,Orphanet:ORPHA90044	Pseudohyperkalemia, familial, 2, due to red cell leak	germline	2	219216028	CGCACAGGGGAGGTGCTGCGGATCGCGGATCGGGGCACATCCAGTGTCACAGGGCTGCTCA
199422254	47544	NM_001363.4(DKC1):c.1223C>T (p.Thr408Ile)	DKC1	May 28, 2015	MedGen:C1148551,OMIM:305000;MedGen:CN517202	Dyskeratosis congenita X-linked;not provided	germline	X	154774669	TGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGA
1057517541	358744	NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter)	MLH1	Aug 31, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Lynch syndrome;Lynch syndrome II;not provided	germline;unknown	3	37025817	CTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGA
370691849	169789	NM_003560.3(PLA2G6):c.1612C>T (p.Arg538Cys)	PLA2G6	Feb 08, 2013	Human Phenotype Ontology:HP:0012675,MedGen:C4021076	Iron accumulation in brain	germline	22	38120889	TTGTTCCTAGGTAAGTCCATGGCCTACATGCGCGGCATGTACTTTCGCATGAAGGATGAGG
62638624	20881	NM_000843.3(GRM6):c.2122C>T (p.Gln708Ter)	GRM6	Mar 29, 2005	MedGen:C1850362,OMIM:257270;MedGen:CN517202	Congenital stationary night blindness, type 1B;not provided	germline	5	178986132	CTGGTCATCACCTTCAGCCTCACCTCCCTGCAGGTGGGTCCGTAGGCTCCCAAGGGCCAGG
79850223	22183	NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter)	CFTR	Jun 16, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202	Cystic fibrosis;not provided	germline;unknown	7	117627525	ACAAAAATGTTGTTATTTTTATTTCAGATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTG
61497286	77397	NM_002055.4(GFAP):c.731C>T (p.Ala244Val)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44913318	CCCTGAAAGAGATCCGCACGCAGTATGAGGCAATGGCGTCCAGCAACATGCATGAAGCCGA
763936813	270021	NM_004006.2(DMD):c.1594C>T (p.Gln532Ter)	DMD	Jan 15, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32595765	GGAGATCACGCAACTGCTGCTTTGGAAGAACAACTTAAGGTCAGATTATTTTGCTTAGTAA
879254099	245189	NM_000166.5(GJB1):c.643C>T (p.Arg215Trp)	GJB1	Nov 18, 2016	MedGen:CN517202	not provided	germline	X	71224350	AATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCT
587784262	169334	NM_000430.3(PAFAH1B1):c.37C>T (p.Arg13Ter)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2665376	AGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATG
118192143	76833	NM_000540.2(RYR1):c.14537C>T (p.Ala4846Val)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38580395	CCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGC
28936368	24237	NM_000095.2(COMP):c.2152C>T (p.Arg718Trp)	COMP	Jul 25, 2013	MedGen:C1838280,OMIM:132400,Orphanet:ORPHA93308	Multiple epiphyseal dysplasia 1	germline	19	18783129	GACAGCAACGTGGTCTTGGACACAACCATGCGGGGTGGCCGCCTGGGGGTCTTCTGCTTCT
587777606	153583	NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter)	BSCL2	Dec 08, 2016	MedGen:C1720863,OMIM:269700;MedGen:C4014700,OMIM:615924,Orphanet:ORPHA363400	Congenital generalized lipodystrophy type 2;Encephalopathy, progressive, with or without lipodystrophy	germline	11	62691300	ATGCAGTGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTCTTTGCAGGTCGAAAGGG
72551350	269522	NM_000463.2(UGT1A1):c.1069C>T (p.Gln357Ter)	UGT1A1	Dec 18, 2015	MedGen:CN119421,Orphanet:ORPHA205	Crigler-Najjar syndrome	germline	2	233767921	AACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGAT
121918144	15699	NM_000312.3(PROC):c.902C>T (p.Ala301Val)	PROC	Mar 01, 1992	MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127428462	ACAGCAAGAGCACCACCGACAATGACATCGCACTGCTGCACCTGGCCCAGCCCGCCACCCT
886037875	247768	NM_013417.3(IARS):c.760C>T (p.Arg254Ter)	IARS	Aug 31, 2016	MedGen:C4310720,OMIM:617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	germline	9	92278272	TTCCTTTTTCTCGTAGATGTTGCCAGAGGACGATTACTCATTTTAATGGAAGCCAGATTGT
267606725	33375	NM_005199.4(CHRNG):c.13C>T (p.Gln5Ter)	CHRNG	Aug 01, 2006	MedGen:C0265261,OMIM:265000,Orphanet:ORPHA294060	Multiple pterygium syndrome Escobar type	germline	2	232539760	GCAGAGAGCTGAGGCACCATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGG
144648002	224972	NM_173560.3(RFX6):c.2176C>T (p.Arg726Ter)	RFX6	Mar 07, 2016	MedGen:C2748662,OMIM:615710,Orphanet:ORPHA293864	Mitchell-Riley syndrome	germline	6	116927317	GGACTCTATCCTCATCACACCGAGCATGGTCGATGCATGGCTTGGACTGAACAGCAGCTTT
387906714	38916	NM_001143981.1(CHRDL1):c.652C>T (p.Arg218Ter)	CHRDL1	Feb 10, 2012	MedGen:C0344530,OMIM:249300,OMIM:309300,Orphanet:ORPHA91489,SNOMED CT:268158009	Megalocornea	germline	X	110694289	CACCGCTCTCACTATGATCCTCCACCAAGCCGACAGGCTGGAGGTCTGTCCCGCTTTCCTG
121908644	21371	NM_000050.4(ASS1):c.256C>T (p.Arg86Cys)	ASS1	Jun 05, 2017	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130458482	GCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGC
1060501458	395031	NM_001369.2(DNAH5):c.2533C>T (p.Gln845Ter)	DNAH5	May 10, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13891020	ATGAGCAGCACGCCTCTTTGTCAGCTTCCCCAGGAGGAGCCACTAACCTGTGAAGAGTTTC
80358224	31222	NM_002353.2(TACSTD2):c.619C>T (p.Gln207Ter)	TACSTD2	Apr 01, 1999	MedGen:C0339273,OMIM:204870,Orphanet:ORPHA98957,SNOMED CT:231928002,SNOMED CT:418946006	Lattice corneal dystrophy Type III	germline	1	58576538	GAGCAGCCCACCATCCAGATCGAGCTGCGGCAGAACACGTCTCAGAAGGCCGCCGGTGACG
587777367	132691	NM_022166.3(XYLT1):c.1792C>T (p.Arg598Cys)	XYLT1	Mar 06, 2014	MedGen:C4014294,OMIM:615777	Desbuquois dysplasia 2	germline	16	17134708	CAGCAGACAGCCCGGCCTACCTTCTTTGCCCGCAAGTTTGAAGCCGTGGTGAATCAGGAAA
797045673	208929	NM_000425.4(L1CAM):c.2278C>T (p.Arg760Ter)	L1CAM	Mar 27, 2017	MedGen:CN221283;MedGen:CN517202	Hydrocephalus due to aqueductal stenosis;not provided	germline	X	153866802	TACCGCGTGCAGTGGCGCCCTCAGGGGACACGAGGGCCCTGGCAGGAGCAGATTGTCAGCG
74315520	22441	NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter)	SOX10	Mar 01, 1999	MedGen:CN069053;MedGen:C2750452,OMIM:613266	Waardenburg syndrome type 2E, with neurologic involvement;Waardenburg syndrome type 4C	germline	22	37973767	CCACACTACACCGACCAGCCATCCACCTCACAGATCGCCTACACCTCCCTCAGCCTGCCCC
80338762	20903	NM_006640.4(SEPT9):c.278C>T (p.Ser93Phe)	SEPT9	Dec 06, 2012	MedGen:C1834304,OMIM:162100,Orphanet:ORPHA2901	Amyotrophy, hereditary neuralgic	germline	17	77402314	CCGAGCCGGTGTCCCGGCGCACTGAGCTGTCCATTGACATCTCGTCCAAGCAGGTGGAGAA
1057519526	362318	NM_021007.2(SCN2A):c.2687C>T (p.Ala896Val)	SCN2A	Oct 25, 2017	MedGen:C3150987,OMIM:613721;Human Phenotype Ontology:HP:0200134,MedGen:C0543888	Early infantile epileptic encephalopathy 11;Epileptic encephalopathy	de novo	2	165344679	TGGTATTGGCCATCATCGTCTTCATTTTTGCTGTGGTCGGCATGCAGCTCTTTGGTAAGAG
-1	427190	NM_000179.2(MSH6):c.3940C>T (p.Gln1314Ter)	MSH6	Dec 18, 2014	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47806590	AGGCTTGCTAATCTCCCAGAGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTG
759584387	203728	NM_172107.3(KCNQ2):c.1657C>T (p.Arg553Trp)	KCNQ2	Feb 15, 2017	MedGen:C1852587,OMIM:121200;MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy 7;not provided	de novo;germline	20	63413556	TGCAGTGTCATGCGGTTCCTGGTGTCCAAGCGGAAGTTCAAGGAGAGCCTGCGGCCCTACG
61757582	21827	NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys)	DHCR7	Jun 14, 2015	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline;unknown	11	71435593	CTGCTGGTGTCGGGCTTCTGGGGCGTGGCCCGCCACTTCAACTACGTCGGCGACCTGATGG
886037672	248876	NM_177438.2(DICER1):c.1525C>T (p.R509*)	DICER1	May 23, 2017	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	germline	14	95116680	GATTTTTTTTTTCAGGTACTTAGGAAATTTCGAGCACATGAGACCAACCTGCTTATTGCAA
121434539	32681	NM_004933.2(CDH15):c.178C>T (p.Arg60Cys)	CDH15	Dec 01, 2008	MedGen:C2675488,OMIM:612580	Mental retardation, autosomal dominant 3	germline	16	89179551	CCCCCGATCAGCGTATCCGAGAACCACAAGCGTCTCCCCTACCCCCTGGTTCAGGTGAGCA
-1	460275	NM_000314.6(PTEN):c.259C>T (p.Gln87Ter)	PTEN	Mar 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	germline	10	87933018	TTCTGAGGTTATCTTTTTACCACAGTTGCACAATATCCTTTTGAAGACCATAACCCACCAC
281865487	47582	NM_004614.4(TK2):c.191C>T (p.Thr64Met)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560	Mitochondrial DNA depletion syndrome 2	not provided	16	66541919	GTGTCGAGGGCAATATTGCAAGTGGGAAGACGACATGCCTGGAATTCTTCTCCAACGCGAC
119470019	19200	NM_024996.5(GFM1):c.139C>T (p.Arg47Ter)	GFM1	Jan 01, 2007	MedGen:C1836797,OMIM:609060,Orphanet:ORPHA137681	Combined oxidative phosphorylation deficiency 1	germline	3	158645686	TCATCAGGGGTGATTCCTAATGAAAAAATACGAAATATTGGAATCTCAGCTCACATTGATT
786204585	186933	NM_000520.5(HEXA):c.1528C>T (p.Arg510Ter)	HEXA	Dec 20, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Tay-Sachs disease;not provided	germline;unknown	15	72344139	TCTTGCCATTTCTTCATGTCCTCTTGCAGGCGAGGTGTCCAGGCCCAACCCCTCAATGTAG
886039757	260382	NM_024818.4(UBA5):c.904C>T (p.Gln302Ter)	UBA5	Oct 06, 2016	MedGen:C4310700,OMIM:617132	Epileptic encephalopathy, early infantile, 44	germline	3	132675339	TTTCCTACTATGTCCATGAAGCCAAATCCTCAGTGTGATGACAGAAATTGCAGGAAGCAGC
121964877	27280	NM_004360.4(CDH1):c.1792C>T (p.Arg598Ter)	CDH1	May 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	germline;unknown	16	68822081	GTGAATGACAACGCCCCCATACCAGAACCTCGAACTATATTCTTCTGTGAGAGGAATCCAA
312262785	49777	NM_025137.3(SPG11):c.6856C>T (p.Arg2286Ter)	SPG11	Jun 07, 2017	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822;MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive;Spastic paraplegia 11, autosomal recessive	germline	15	44565997	TCCACCCTTGTTCCTCAGGACTCCTGTGTGCGACAGGCCCAGCACTGTCAGCGGCTCACCA
377130051	260201	NM_000271.4(NPC1):c.1819C>T (p.Arg607Ter)	NPC1	Aug 02, 2017	MedGen:C0220756,Orphanet:ORPHA646,SNOMED CT:66751000;MedGen:CN517202	Niemann-Pick disease, type C;not provided	germline	18	23545088	CCCAATCTGACCATTTCCTTCACTGCTGAACGAAGTATTGAAGATGAACTAAATCGTGAAA
1085307733	415742	NM_000074.2(CD40LG):c.658C>T (p.Gln220Ter)	CD40LG	Apr 07, 2017	MedGen:CN517202	not provided	germline	X	136659287	AATACCCACAGTTCCGCCAAACCTTGCGGGCAACAATCCATTCACTTGGGAGGAGTATTTG
267606852	28686	NM_000175.4(GPI):c.14C>T (p.Thr5Ile)	GPI	Sep 15, 1996	MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	germline	19	34365280	TACCTTCTAGTCCCGCCATGGCCGCTCTCACCCGGGACCCCCAGTTCCAGAAGCTGCAGCA
121913014	31836	NM_000281.3(PCBD1):c.236C>T (p.Thr79Ile)	PCBD1	Jun 01, 1998	MedGen:C1849700,OMIM:264070,Orphanet:ORPHA1578	Hyperphenylalaninemia, BH4-deficient, D	germline	10	70884029	TTTCATTTCAGGTCCACATCACGCTGAGCACCCATGAGTGTGCCGGCCTTTCAGAACGGGA
886039568	259842	NM_001453.2(FOXC1):c.256C>T (p.Leu86Phe)	FOXC1	Jun 30, 2016	MedGen:C2678503,OMIM:602482;MedGen:CN517202	Axenfeld-Rieger syndrome type 3;not provided	germline;unknown	6	1610701	ATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGG
74315512	20721	NM_001169109.1(SCO2):c.268C>T (p.Arg90Ter)	SCO2	Mar 22, 2000	MedGen:C1858424,OMIM:604377,Orphanet:ORPHA1561	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	germline	22	50524144	GCTGAGAAGGAGAGGCTGCAGCAGCAAAAGCGAACAGAAGCCCTGCGCCAGGCAGCTGTGG
312262836	49548	NM_003611.2(OFD1):c.454C>T (p.Gln152Ter)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13744456	CATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTC
397514716	71565	NM_001127217.2(SMAD9):c.880C>T (p.Arg294Ter)	SMAD9	Jan 23, 2017	MedGen:C3888002,OMIM:615342;MedGen:CN517202	Primary pulmonary hypertension 2;not provided	germline	13	36865660	CGAGTTGGGGAGACATTCCAGGCTTCCTCCCGAAGTGTGCTCATAGATGGGTTCACCGACC
587777097	102949	NM_052844.3(WDR34):c.472C>T (p.Gln158Ter)	WDR34	Feb 10, 2014	MedGen:C3810200,OMIM:615633	Short-rib thoracic dysplasia 11 with or without polydactyly	germline	9	128636991	TGTCTGTATACCCTGGGCTACCCGCCAGCCCAAGCGCAGGGTCTGCATGTGACCAGCATCT
121434483	23113	NM_000430.3(PAFAH1B1):c.817C>T (p.Arg273Ter)	PAFAH1B1	Mar 09, 2016	MedGen:C1843916,OMIM:607432;MedGen:CN517202	Lissencephaly 1;not provided	germline	17	2674205	GTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTT
886042347	266466	NM_004006.2(DMD):c.5089C>T (p.Gln1697Ter)	DMD	Aug 20, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	32364647	AATGTGGACCACATCACAAAGTGGATCATTCAGGCTGACACACTTTTGGATGAATCAGAGA
118203925	15669	NM_000277.2(PAH):c.140C>T (p.Ala47Val)	PAH	May 15, 1994	Human Phenotype Ontology:HP:0004923,MedGen:C0751435;MedGen:CN517202	Hyperphenylalaninemia, non-pku;not provided	germline	12	102912819	TGATCTTCTCACTCAAAGAAGAAGTTGGTGCATTGGCCAAAGTATTGCGCTTATTTGAGGT
267606650	20417	NM_005989.3(AKR1D1):c.781C>T (p.Arg261Cys)	AKR1D1	Apr 01, 2004	MedGen:C1856127,OMIM:235555,Orphanet:ORPHA79303	Bile acid synthesis defect, congenital, 2	germline	7	138107506	TACAATAAGACAGCAGCTCAAATTGTTTTGCGTTTCAACATCCAGCGAGGGGTGGTTGTCA
979212552	419349	NM_000251.2(MSH2):c.1042C>T (p.Gln348Ter)	MSH2	Jul 25, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	germline	2	47416395	GGACAAAGACTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGATAAGAACAGAATAGAGG
57508089	57196	NM_170707.3(LMNA):c.1146C>T (p.Gly382=)	LMNA	Dec 24, 2016	MedGen:CN043576;Human Phenotype Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED CT:93153005;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Limb-girdle muscular dystrophy;not provided	germline	1	156136110	GATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCG
121908191	27780	NM_005546.3(ITK):c.1003C>T (p.Arg335Trp)	ITK	May 01, 2012	MedGen:C3552634,OMIM:613011	Lymphoproliferative syndrome 1	germline	5	157241663	TCAATCAACCCAGGCCTGGTGACTCGACTCCGGTATCCAGTTTGTTTTGGGAGGCAGAAAG
797045283	207388	NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter)	ARID1B	Oct 05, 2017	MedGen:C3281201,OMIM:614562;MedGen:CN517202	Mental retardation, autosomal dominant 12;not provided	germline	6	157207109	CTTCTTCACCACGAGCATCCAGAGAGAAAGCGAGCACCGCAGACCTATGAGAAAGAGGAGG
746877365	395447	NM_004415.3(DSP):c.3337C>T (p.Arg1113Ter)	DSP	Oct 23, 2017	MedGen:C1843896,OMIM:607450;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy, type 8;Long QT syndrome 1;not provided	germline	6	7579527	CAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGA
121917718	28832	NM_006193.2(PAX4):c.490C>T (p.Arg164Trp)	PAX4	Jul 01, 2007	MedGen:C2677132,OMIM:612225	Maturity-onset diabetes of the young, type 9	germline	7	127613804	CCCCGGGGTACCCACCCAGGGACCGGCCACCGGAATCGGACTATCTTCTCCCCAAGCCAAG
397509002	69322	NM_007294.3(BRCA1):c.2713C>T (p.Gln905Ter)	BRCA1	Jan 20, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202;MedGen:CN169374	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;not specified	germline	17	43092818	CAAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGT
104886035	99615	NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser)	DHCR7	Oct 18, 2016	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline	11	71444163	GCGAGCGTCATCTTCCTACTGCTGTTCGCCCCCTTCATCGTCTACTACTTCATCATGGCTT
1057517689	359166	NM_032793.4(MFSD2A):c.497C>T (p.Ser166Leu)	MFSD2A	Jan 23, 2018	MedGen:C4225310,OMIM:616486	Primary autosomal recessive microcephaly 15	germline	1	39965490	TTCTATGCCAGTGTTTCCATGTTCCCTACTCGGCTCTCACCATGTTCATCAGCACCGAGCA
119485094	20076	NM_022041.3(GAN):c.1429C>T (p.Arg477Ter)	GAN	Apr 01, 2009	MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:128207002	Giant axonal neuropathy	germline	16	81365405	GCTATGGAGCTGTATGTGTTTGGGGGAGTCCGAAGTCGTGAGGACGCCCAGGGTAGCGAGA
587778842	132330	NM_000321.2(RB1):c.763C>T (p.Arg255Ter)	RB1	Sep 13, 2016	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline;somatic	13	48362859	CCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAA
137852497	25102	NM_000194.2(HPRT1):c.508C>T (p.Arg170Ter)	HPRT1	Mar 01, 2000	MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	Lesch-Nyhan syndrome	germline	X	134498412	ATTAACAGCTTGCTGGTGAAAAGGACCCCACGAAGTGTTGGATATAAGCCAGACTGTAAGT
886037972	249171	NM_007294.3(BRCA1):c.280C>T (p.Gln94Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43104889	GAAGAGCTATTGAAAATCATTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTGTAAGTGTT
121907999	18903	NM_000053.3(ATP7B):c.865C>T (p.Gln289Ter)	ATP7B	May 01, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline;unknown	13	51974355	ATTGGCCAGCTCCTAGGGGTTCAAAGTATTCAAGTGTCCTTGGAGAACAAAACTGCCCAAG
756459525	263457	NM_080675.3(SUN5):c.824C>T (p.Thr275Met)	SUN5	Nov 07, 2016	MedGen:C4310674,OMIM:617187	Spermatogenic failure 16	germline	20	32985809	TGGCTCAGAAGGTTTACCTGTCCAACCTCACGCTGCAGCACATCCCCAAGACCATCTCATT
796052095	200703	NM_145207.2(SPATA5):c.556C>T (p.Arg186Ter)	SPATA5	Sep 03, 2015	MedGen:C4225276,OMIM:616577,Orphanet:ORPHA457351	Epilepsy, hearing loss, and mental retardation syndrome	germline	4	122934147	GGCAACTTTCTGTATTGTACATTCTATGGACGACCGTACAAGCTGCAAGTATTGCGAGTGA
121918297	17749	NM_178443.2(FERMT3):c.1729C>T (p.Arg577Ter)	FERMT3	May 07, 2009	MedGen:C2748536,OMIM:612840,Orphanet:ORPHA99844	Leukocyte adhesion deficiency, type III	germline	11	64223094	AAAGACGAGATCCTGGGCATCGCCAACAACCGACTGATCCGCATCGACTTGGCCGTGGGCG
-1	431724	NM_006269.1(RP1):c.2056C>T (p.Gln686Ter)	RP1	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	8	54625938	TCTCGACAGCAAGCAATAAATTCCAGGTATCAAGATGGACAGCTTGCAACCAAAGGAATTC
-1	461705	NM_005055.4(RAPSN):c.853C>T (p.Gln285Ter)	RAPSN	Jul 11, 2017	MedGen:C4225367,OMIM:616326;MedGen:C1276035,OMIM:208150,SNOMED CT:401138005	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I	germline	11	47441670	ATCATGACCGAGATCGGAAACCGCCTGGGGCAGGTGCAGGCGCTGCTGGGTGTGGCCAAGT
121434348	17049	NM_001134831.1(AHI1):c.1051C>T (p.Arg351Ter)	AHI1	Sep 01, 2004	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	germline	6	135457594	GATGACCTTGTCTTGGGAGTTTACATTCACCGAACTGATAGACTTAAGTCAGATTTTATGA
137853032	21547	NM_001080463.1(DYNC2H1):c.8512C>T (p.Arg2838Ter)	DYNC2H1	Jun 01, 2017	MedGen:CN674505;MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Short-rib polydactyly syndrome type III;Short-rib thoracic dysplasia 3 with or without polydactyly	germline;paternal	11	103209933	GGTGGTGGAGAAAAATACAATGATAAAAAACGAAAAGAAGAAAAGAAAAAAAATTCAGGTA
62130681	361736	NM_004341.4(CAD):c.5365C>T (p.Arg1789Ter)	CAD	Sep 08, 2017	MedGen:C4225320,OMIM:616457,Orphanet:ORPHA448010	Epileptic encephalopathy, early infantile, 50	germline;paternal	2	27239442	GTGAAGGGCACCGTCCGCCGTGTGGTCCTGCGAGGGGAGGTTGCCTATATCGATGGGCAGG
864622772	222900	NM_000202.7(IDS):c.1393C>T (p.Gln465Ter)	IDS	Oct 30, 2013	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	unknown	X	149483006	GGTAATCCCCGTGAACTGATTGCCTATAGCCAGTATCCCCGGCCTTCAGACATCCCTCAGT
587781698	151087	NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter)	ATM	Jun 08, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	11	108365335	CTTTGTGTTTTTGTCCTTAGTGATATTGACCAGAGTTTCAACAAAGTAGCTGAACGTGTCT
879255643	247544	NM_198335.3(GANAB):c.2515C>T (p.Arg839Trp)	GANAB	Feb 22, 2018	na	POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE	germline	11	62626633	GGGACAATCGTGCCTCGATGGATGCGAGTGCGGCGGTCTTCAGAATGTATGAAGGATGACC
202080674	188001	NM_000124.3(ERCC6):c.2008C>T (p.Arg670Trp)	ERCC6	Jun 17, 2011	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322	Cockayne syndrome B	germline	10	49482848	CCTTTCCTCAAATAGTTTCGCACCCCTCATCGGATCATTCTGTCTGGCTCACCGATGCAAA
28940874	18873	NM_000017.3(ACADS):c.575C>T (p.Ala192Val)	ACADS	Jan 01, 2001	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007	Deficiency of butyryl-CoA dehydrogenase	germline	12	120737939	CCAAAGCCTGGATCACCAATGCCTGGGAGGCTTCGGCTGCCGTGGTCTTTGCCAGCACGGA
527236157	152926	NM_001194958.2(KCNJ18):c.1219C>T (p.Gln407Ter)	KCNJ18	Jul 31, 2014	MedGen:C0268446,OMIM:188580,Orphanet:ORPHA79102,SNOMED CT:30967002	Thyrotoxic periodic paralysis	germline	17	21704005	GACGGCCGAAGCCGGGATGGCCTCAGCCCCCAGGCCAGGCATGACTTTGACAGACTCCAGG
772624348	207024	NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter)	ALMS1	Jan 14, 2014	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome	germline	2	73572357	ATTCATCATCCCGTACACCTACCAAGTGATCAAGATATTTGCCATGAATCTTTGGGAAAGA
769440001	393456	NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter)	ALMS1	Oct 09, 2016	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome	germline	2	73452114	CAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTT
-1	451215	NM_000179.2(MSH6):c.973C>T (p.Gln325Ter)	MSH6	Mar 30, 2017	MedGen:C0009405,Orphanet:ORPHA443090	Hereditary nonpolyposis colon cancer	germline	2	47798956	TCTAGGAAGGAAACGCCCTCAGCCACCAAACAAGCAACTAGCATTTCATCAGAAACCAAGA
202047589	200670	NM_138413.3(HOGA1):c.569C>T (p.Pro190Leu)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97599780	TGGATGCAGTGGTCACGCTTTCCCAGCACCCGAATATTGTGGGCATGAAGGACAGCGGTGG
781688103	389219	NM_194248.2(OTOF):c.4747C>T (p.Arg1583Cys)	OTOF	Jun 04, 2016	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	germline	2	26465724	ATTGGGGAAACCAAGATCGACCTGGAGAACCGCTTCTACAGCAAGCACCGCGCCACCTGCG
180177296	200582	NM_000030.2(AGXT):c.922C>T (p.Gln308Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240877612	CTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGC
121909120	22409	NM_001083962.1(TCF4):c.1738C>T (p.Arg580Trp)	TCF4	Jun 22, 2017	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;MedGen:CN239858;MedGen:CN517202	Pitt-Hopkins syndrome;Severe intellectual deficiency;not provided	de novo;germline	18	55228988	AGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAG
397515640	94247	NM_001942.3(DSG1):c.601C>T (p.Gln201Ter)	DSG1	Mar 01, 2009	MedGen:C1835661,OMIM:148700	Keratosis palmoplantaris striata 1	germline	18	31331784	AACTCAAAAATAGCCTTCAAGATTATAAGACAAGAACCTTCAGATTCACCAATGTTTATTA
730881369	240964	NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter)	ATM	Jul 31, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108289761	GGCTTAGGAGGAGCTTGGGCCTTTGTTCTTCGAGACGTTATTTATACTTTGATTCACTATA
199474699	24609	m.15990C>T	MT-TP	Jul 01, 1993	Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myopathy	germline	MT	15990	AGAAAAAGTCTTTAACTCCACCATTAGCACCCAAAGCTAAGATTCTAATTTAAACTATTCT
121912467	29781	NM_000213.4(ITGB4):c.3841C>T (p.Arg1281Trp)	ITGB4	Oct 06, 2016	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403;MedGen:CN517202	Epidermolysis bullosa junctionalis with pyloric atresia;not provided	germline	17	75752221	AAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGT
373740199	76347	NM_032957.4(RTEL1):c.3028C>T (p.Arg1010Ter)	RTEL1	Sep 26, 2016	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008;MedGen:C3808802;MedGen:C3554656,OMIM:615190;MedGen:CN517202	Dyskeratosis congenita;Dyskeratosis congenita, autosomal dominant, 4;Dyskeratosis congenita, autosomal recessive, 5;not provided	germline;unknown	20	63693247	TGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACC
28937872	20584	NM_006783.4(GJB6):c.263C>T (p.Ala88Val)	GJB6	Oct 01, 2000	Human Phenotype Ontology:HP:0007529,MedGen:C0162361,OMIM:129500,Orphanet:ORPHA189,SNOMED CT:54209007	Hidrotic ectodermal dysplasia syndrome	germline	13	20223218	CCCTCCAGCTGATCTTCGTCTCCACCCCAGCGCTGCTGGTGGCCATGCATGTGGCCTACTA
121912731	32829	NM_001681.3(ATP2A2):c.322C>T (p.Gln108Ter)	ATP2A2	Mar 01, 1999	MedGen:C0022595,OMIM:124200,Orphanet:ORPHA218,SNOMED CT:48611009	Keratosis follicularis	germline	12	110292122	TTAGTAGCCAATGCAATTGTGGGTGTATGGCAGGTAAGCAAAAATTCCTGTACTGCAAAAT
121434369	17124	NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp)	GCDH	Apr 06, 2017	Human Phenotype Ontology:HP:0003530,MedGen:C4025603;MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric acidemia;Glutaric aciduria, type 1;not provided	germline;unknown	19	12897824	AATGGGATTTCTGACGAGTATCACGTGATCCGGCACGCCATGAACCTGGAGGCCGTGAACA
111033798	36637	NM_000155.3(GALT):c.970C>T (p.Pro324Ser)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649475	AACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGA
121913400	32622	NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe)	CTNNB1	May 31, 2016	na;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0030434,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:ORPHA91414;Human Phenotype Ontology:HP:0006740,MedGen:C0279680	ADRENAL CORTICAL NEOPLASM;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Colorectal Neoplasms;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Pancreatic adenocarcinoma;Pilomatrixoma;Transitional cell carcinoma of the bladder	somatic	3	41224610	GTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGC
797046033	208457	NM_001083962.1(TCF4):c.1411C>T (p.Gln471Ter)	TCF4	Sep 11, 2014	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896	Pitt-Hopkins syndrome	germline	18	55234623	CTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGT
377767326	36143	NM_005359.5(SMAD4):c.403C>T (p.Arg135Ter)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51048839	AGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGGTAAGTAGA
369947678	38909	NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser)	UBQLN2	Aug 21, 2011	MedGen:C3275459,OMIM:300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	germline	X	56565446	CCCATAGGACCCACTGGCCCTGCAGCCCCCCCTGGCTCCACCGGCTCTGGTGGCCCCACGG
387906718	38929	NM_004463.2(FGD1):c.1966C>T (p.Arg656Ter)	FGD1	Feb 01, 2010	MedGen:C0175701,OMIM:305400,SNOMED CT:14921002	Aarskog syndrome	germline	X	54455497	CTAAAGGAGAGCTCCAACCTCAATCTGCCTCGAACCTTCCTGGTGTCAGGAAAGCAGCGCT
879255217	434350	NM_000527.4(LDLR):c.2476C>T (p.Pro826Ser)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11129599	AAGAACATCAACAGCATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGG
-1	476667	NM_000059.3(BRCA2):c.3385C>T (p.Gln1129Ter)	BRCA2	Jun 27, 2016	MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32337740	GAAGAATCAGGAAGTCAGTTTGAATTTACTCAGTTTAGAAAACCAAGCTACATATTGCAGA
121913625	29128	NM_000257.3(MYH7):c.1357C>T (p.Arg453Cys)	MYH7	Aug 23, 2017	MedGen:C3495498,OMIM:192600;MedGen:C0340429,Orphanet:ORPHA217635,SNOMED CT:233878008;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23429005	ATCAATGCCACCCTGGAGACCAAGCAGCCACGCCAGTACTTCATAGGAGTCCTGGACATCG
757563721	241219	NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter)	MTMR2	Feb 12, 2016	MedGen:CN043578	Charcot-Marie-Tooth disease, type IV	germline	11	95849835	AAGGTTTTATCATGGATTCATCCTGAAAGTCAAGCCACAATCACTCGGTGTAGCCAGCCCA
587783476	169269	NM_004380.2(CREBBP):c.286C>T (p.Gln96Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3850809	ATAGGAAATGTGAGCGCCAGCAGCCCCGTGCAGCAGGGCCTGGGTGGCCAGGCTCAAGGGC
-1	467850	NM_003079.4(SMARCE1):c.757C>T (p.Gln253Ter)	SMARCE1	Mar 20, 2017	MedGen:C1333989,OMIM:607174	Meningioma, familial	germline	17	40631651	GCTGAACTTCTTCAAATAGAGGAACGACACCAGGAGAAGAAGAGGAAATTCCTGGAAAGCA
267606769	31847	NM_001361.4(DHODH):c.595C>T (p.Arg199Cys)	DHODH	Jan 01, 2010	MedGen:C0265257,OMIM:263750,SNOMED CT:66038001	Miller syndrome	germline	16	72021201	GACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGG
864622051	221054	NM_000295.4(SERPINA1):c.538C>T (p.Gln180Ter)	SERPINA1	Mar 08, 2016	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007	Alpha-1-antitrypsin deficiency	germline;unknown	14	94382700	AACTTCGGGGACACCGAAGAGGCCAAGAAACAGATCAACGATTACGTGGAGAAGGGTACTC
61761869	273372	NM_000295.4(SERPINA1):c.1177C>T (p.Pro393Ser)	SERPINA1	May 09, 2017	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007;MedGen:CN517202	Alpha-1-antitrypsin deficiency;not provided	germline	14	94378529	TCTATCCCCCCCGAGGTCAAGTTCAACAAACCCTTTGTCTTCTTAATGATTGAACAAAATA
397509426	75125	NM_013334.3(GMPPB):c.95C>T (p.Pro32Leu)	GMPPB	May 04, 2017	MedGen:C3809221,OMIM:615351;MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623;MedGen:CN517202	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;not provided	germline;paternal	3	49723632	CGAAGCCACTGGTGGACTTCTGCAATAAGCCCATCTTGCTGCACCAAGTGGAGGCGCTAGC
45483392	27432	NM_000548.4(TSC2):c.5024C>T (p.Pro1675Leu)	TSC2	Jan 18, 2017	MedGen:C0751674,OMIM:606690,Orphanet:ORPHA538,SNOMED CT:73017001;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2087897	AGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCT
387906669	38785	NM_001111035.2(ACP5):c.667C>T (p.Gln223Ter)	ACP5	Feb 01, 2011	MedGen:C1842763,OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	germline	19	11576311	GAGCACGGGCCTACCCACTGCCTGGTCAAGCAGCTACGGCCACTGCTGGCCACATACGGGG
747916314	442704	NM_000228.2(LAMB3):c.2914C>T (p.Arg972Ter)	LAMB3	Sep 27, 2017	MedGen:CN517202	not provided	germline	1	209618044	CTCTCCCTGCTGCTTCTCTCACCCAGGAGCCGAGCCCATGCAGTGGAGGGCCAGGTGGAAG
587784464	169452	NM_001083962.1(TCF4):c.469C>T (p.Arg157Ter)	TCF4	Feb 26, 2017	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;MedGen:CN517202	Pitt-Hopkins syndrome;not provided	germline	18	55350904	CAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGG
121908484	20826	NM_014270.4(SLC7A9):c.997C>T (p.Arg333Trp)	SLC7A9	Feb 15, 2001	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	19	32843932	TTATTTTCCAGACTCATTTACGTGGCGGGCCGGGAGGGTCACATGCTCAAAGTGCTTTCTT
137854441	15815	NM_198488.3(FAM83H):c.1408C>T (p.Gln470Ter)	FAM83H	Apr 01, 2009	MedGen:C0399376,OMIM:130900,Orphanet:ORPHA100032,SNOMED CT:109471001	Amelogenesis imperfecta, hypocalcification type	germline	8	143728053	TGGGACCCGCAGCTCACGCCGGCGCGCCCGCAAGGCCTGTTCGAGAAGCTTCGCGGGGGCC
121434604	28789	NM_000316.2(PTH1R):c.310C>T (p.Arg104Ter)	PTH1R	Mar 01, 2007	MedGen:C1859148,OMIM:215045,Orphanet:ORPHA50945	Chondrodysplasia Blomstrand type	germline	3	46895866	GACAAGGAGGCACCCACTGGCAGCAGGTACCGAGGTACGTCTCTGCTTCCATGCATCCAGC
782623477	264486	NM_003172.3(SURF1):c.688C>T (p.Arg230Ter)	SURF1	Jun 21, 2016	MedGen:CN517202	not provided	germline	9	133352509	AACAATCCAGAAAGGAACCACTGGCATTATCGAGACCTGGAAGCTATGGCCAGAATCACAG
724159947	171928	NM_001987.4(ETV6):c.641C>T (p.Pro214Leu)	ETV6	May 13, 2015	Human Phenotype Ontology:HP:0004377,MeSH:D019337,MedGen:C0376545,SNOMED CT:129154003;MedGen:CN130080;MedGen:C4015537,OMIM:616216	Hematologic neoplasm;Thrombocytopenia;Thrombocytopenia 5	germline	12	11869601	CCCTGGACAACATGATCCGCCGCCTCTCCCCGGCTGAGAGAGCTCAGGGACCCAGGCCGCA
111033705	36519	NM_000155.3(GALT):c.490C>T (p.Gln164Ter)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647944	TGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCG
758972589	181842	NM_000465.3(BARD1):c.334C>T (p.Arg112Ter)	BARD1	Sep 28, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	2	214792327	GACAGCATGATTCAACTTTGTAGTAAGCTTCGAAATTTGCTACATGACAATGAGCTGTCAG
121434312	16848	NM_152594.2(SPRED1):c.349C>T (p.Arg117Ter)	SPRED1	Aug 06, 2016	MedGen:C1969623,OMIM:611431,Orphanet:ORPHA137605	Legius syndrome	germline	15	38322382	GCTGATGCTAGGGCTTTTGATAGAGGTATCCGAAGAGCTATAGAGGATATTTCTCAAGGTA
74315376	20479	NM_005149.2(TBX19):c.856C>T (p.Arg286Ter)	TBX19	Mar 23, 2001	Human Phenotype Ontology:HP:0011748,MedGen:C0342388,OMIM:201400,SNOMED CT:237692001	ACTH deficiency	germline	1	168305136	CACCATGGCTGTGAGCACTATTCGGGTCTCCGAGGACACCGGCAGGCTCCCTACCCTTCTG
373584239	431511	NM_015125.4(CIC):c.1474C>T (p.Arg492Trp)	CIC	Aug 30, 2017	MedGen:CN368509,OMIM:617600	MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	germline	19	42290242	GTCTCCCTTCCTTTCATGCAGGGCTTTGGTCGGAAGGTGTTTTCACCTGTGATCCGTTCCT
-1	475845	NM_000051.3(ATM):c.8050C>T (p.Gln2684Ter)	ATM	Nov 25, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108335008	ACAGGAGAATATGGAAATCTGGTGACTATACAGTCATTTAAAGCAGAATTTCGCTTAGCAG
132630324	26056	NM_001184880.1(PCDH19):c.253C>T (p.Gln85Ter)	PCDH19	Jun 01, 2008	MedGen:C1848137,OMIM:300088,Orphanet:ORPHA101039	Early infantile epileptic encephalopathy 9	germline	X	100408345	AATCCCAGCTCTGGCCTGCTGGTCACCAAGCAGAAGATTGACCGTGATCTGCTGTGCCGCC
111033794	36639	NM_000155.3(GALT):c.974C>T (p.Pro325Leu)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649479	ATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATT
786201005	181485	NM_005101.3(ISG15):c.163C>T (p.Gln55Ter)	ISG15	Jan 01, 2015	MedGen:C4015293,OMIM:616126,Orphanet:ORPHA319563	Immunodeficiency 38 with basal ganglia calcification	germline	1	1014143	CTGGCTGTCCACCCGAGCGGTGTGGCGCTGCAGGACAGGGTCCCCCTTGCCAGCCAGGGCC
786201733	185299	NM_032043.2(BRIP1):c.667C>T (p.Gln223Ter)	BRIP1	Apr 18, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61808718	CACTGTTCTAGGTGCTGTTGTTCTACTAAACAAGGAAACAGTCAAGAGTCATCGAATACCA
-1	479639	NM_001128849.1(SMARCA4):c.2032C>T (p.Gln678Ter)	SMARCA4	May 10, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	11007932	GAGGAGGAGGAAGAGCAGCCGCAGGCAGCACAGCCTCCCACCCTGCCCGTGGAGGAGAAGA
-1	482226	NM_000355.3(TCN2):c.871C>T (p.Gln291Ter)	TCN2	Dec 08, 2017	MedGen:CN517202	not provided	germline	22	30615718	GGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCT
121917839	23134	NM_006261.4(PROP1):c.358C>T (p.Arg120Cys)	PROP1	Apr 09, 2014	MedGen:C0878683,OMIM:262600	Pituitary hormone deficiency, combined 2	germline;unknown	5	177993032	CCTACCCCTTCTCAGGTCTGGTTCCAGAACCGCAGAGCTAAGCAACGGAAGCAAGAGCGCT
121908286	16277	NM_152419.2(HGSNAT):c.1553C>T (p.Ser518Phe)	HGSNAT	Oct 01, 2011	MedGen:C0086649,OMIM:252930,Orphanet:ORPHA79271,SNOMED CT:75238000	Mucopolysaccharidosis, MPS-III-C	germline	8	43197682	CCTTCTCTTCCCCATTACAGGGGCTCATTTCTGTTGCTCTGACGAAGGTTTCTGAAAATGA
121909386	15823	NM_213606.3(SLC16A12):c.733C>T (p.Gln245Ter)	SLC16A12	Aug 29, 2011	MedGen:C2677587,OMIM:612018	Cataract, juvenile, with microcornea and glucosuria	germline	10	89438899	ACTCCAGAGCAGAACCATGTGTGTAGAACTCAGAAAGAAGACATTAAGCGGGTGTCTCCCT
794728654	197530	NM_130799.2(MEN1):c.1324C>T (p.Gln442Ter)	MEN1	Mar 25, 2015	MedGen:CN517202	not provided	germline	11	64805060	CTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGA
1060501023	400968	NM_000138.4(FBN1):c.6784C>T (p.Gln2262Ter)	FBN1	Jul 13, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48430758	GAAGAGGGAAAACATGACTGTACTGAAAAACAAATGGAATGCAAGAACCTCATTGGCACAT
397514525	48128	NM_000359.2(TGM1):c.943C>T (p.Arg315Cys)	TGM1	Jan 18, 2013	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24259745	CTGGACCGGCGGGGGATGCCATATGGAGGCCGTGGAGACCCAGTCAATGTCTCCCGGGTCA
1057517747	360655	NM_000206.2(IL2RG):c.43C>T (p.Gln15Ter)	IL2RG	Apr 01, 2015	MedGen:CN517202	not provided	germline	X	71111497	TCATTACCATTCACATCCCTCTTATTCCTGCAGCTGCCCCTGCTGGGAGTGGGGCTGAACA
121908350	19960	NM_022124.5(CDH23):c.3880C>T (p.Gln1294Ter)	CDH23	Jan 01, 2001	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71732151	TCGGCCACTGACCAGGCCCCGCCCTTCAACCAGGGCTTCTGCAGCGTCTACATCACTCTGC
118203384	58205	NM_000368.4(TSC1):c.445C>T (p.Gln149Ter)	TSC1	Feb 16, 2017	MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 1;Tuberous sclerosis syndrome	germline	9	132923411	ATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTG
121917790	26972	NM_000431.3(MVK):c.494C>T (p.Pro165Leu)	MVK	Jun 01, 1999	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002	Hyperimmunoglobulin D with periodic fever	germline	12	109581517	CAGCCCTCCTGACTGTGTGCGAGGAGATCCCAAACCCGCTGAAGGACGGGGATTGCGTCAA
863225455	214864	NM_016218.3(POLK):c.2033C>T (p.Ser678Phe)	POLK	Nov 20, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75596726	AAGTTAACAAGAAAGAAAATGTTCCTGCTTCTTCACTTTGTGAGAAGCAAGATTATGAAGC
80357215	68781	NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter)	BRCA1	Jan 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43094465	CCCCTGTGTGAGAGAAAAGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAATCCTAGAG
397515458	76926	NM_006073.3(TRDN):c.613C>T (p.Gln205Ter)	TRDN	Aug 21, 2017	MedGen:C3809536,OMIM:615441;MedGen:CN517202	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness;not provided	germline	6	123503899	TATTTCAACATCTTTTAACTTTATACAGAACAGAAGAAAGCTAAGACTGCAGAAAAGAGTG
104894977	24792	NM_003140.2(SRY):c.4C>T (p.Gln2Ter)	SRY	Jan 01, 1998	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787600	TTTGTCGCACTCTCCTTGTTTTTGACAATGCAATCATATGCTTCTGCTATGTTAAGCGTAT
367543259	36542	NM_000155.3(GALT):c.542C>T (p.Ser181Phe)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648149	TTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGT
398124051	100673	NM_004006.2(DMD):c.7672C>T (p.Gln2558Ter)	DMD	Jul 31, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31679575	ATTTTTCCTTTTATTCTAGTTGAAAGAATTCAGAATCAGTGGGATGAAGTACAAGAACACC
387907056	39887	NM_198488.3(FAM83H):c.1366C>T (p.Gln456Ter)	FAM83H	Apr 01, 2009	MedGen:C0399376,OMIM:130900,Orphanet:ORPHA100032,SNOMED CT:109471001	Amelogenesis imperfecta, hypocalcification type	germline	8	143728095	AGCCACTTCCACCGTGACCAGCTCTACCAGCAGCAGTACCAGTGGGACCCGCAGCTCACGC
766256429	204584	NM_003995.3(NPR2):c.2455C>T (p.Arg819Cys)	NPR2	Oct 01, 2013	MedGen:C4225399,OMIM:616255	Short stature with nonspecific skeletal abnormalities	germline	9	35806474	GCCAATAACTTGGAGAAGCTGGTGGAGGAACGCACACAGGCCTATCTGGAGGAAAAACGCA
121434226	18453	NM_006147.3(IRF6):c.250C>T (p.Arg84Cys)	IRF6	Mar 29, 2017	MedGen:C0265259,OMIM:119500,SNOMED CT:66783006;MedGen:CN517202	Popliteal pterygium syndrome;not provided	germline	1	209796477	CCTGACCCAGCTAAATGGAAGGCCCAGCTGCGCTGTGCTCTCAATAAGAGCAGAGAATTCA
-1	434422	NM_001001563.3(TIMM50):c.649C>T (p.Arg217Trp)	TIMM50	Oct 03, 2017	MedGen:CN510468,OMIM:617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	germline	19	39485570	CTAGATCCAATTCTGGTACAGCAGTTGCGCCGGACATACAAATATTTCAAAGATTATAGAC
62646861	105189	NM_000350.2(ABCA4):c.454C>T (p.Arg152Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94103131	TTCTCTTATTCATATGTAGGAAGAGGAATACGAATAAGGGATATCTTGAAAGATGAAGAAA
121964908	15262	NM_000027.3(AGA):c.302C>T (p.Ala101Val)	AGA	Apr 15, 2016	Human Phenotype Ontology:HP:0012068,MedGen:C0268225,OMIM:208400	Aspartylglucosaminuria	germline	4	177439668	TTTCTTGCAGCACTACTATGGATGTAGGAGCAGTAGGAGATCTCAGACGAATTAAAAATGC
80338898	33910	NM_000137.2(FAH):c.782C>T (p.Pro261Leu)	FAH	Jun 16, 2017	MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006;MedGen:CN517202	Tyrosinemia type I;not provided	germline;unknown	15	80173089	TTGGGAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCC
80338699	18216	NM_138477.3(CDAN1):c.3389C>T (p.Pro1130Leu)	CDAN1	Sep 01, 2011	MedGen:C0271933,OMIM:224120,Orphanet:ORPHA98869,SNOMED CT:59548005	Congenital dyserythropoietic anemia, type I	germline	15	42725550	TGTGGAAGGAAGACTTTCAGGGGCCGGTTCCGCTGCAGCTGCTGCTGAGCCCAAGAAATGT
28999110	33391	NM_000080.3(CHRNE):c.721C>T (p.Leu241Phe)	CHRNE	Jan 20, 2009	Gene:8144,MedGen:C1853949,OMIM:605809	Myasthenic syndrome, congenital, 4a, slow-channel	germline	17	4901071	ATCTACTCGCTCATCATCCGCCGGAAGCCGCTCTTCTACGTCATTAACATCATCGTGCCCT
267606949	18909	NM_006623.3(PHGDH):c.403C>T (p.Arg135Trp)	PHGDH	May 01, 2009	MedGen:C1866174,OMIM:601815	Phosphoglycerate dehydrogenase deficiency	germline	1	119726897	ACGGCTTCGATGAAGGACGGCAAATGGGAGCGGAAGAAGGTGAGCAGCGGCCTTGACTCGC
74315359	17452	NM_032409.2(PINK1):c.938C>T (p.Thr313Met)	PINK1	Oct 01, 2006	MedGen:C1853833,OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	germline	1	20644651	TCCACCCTGAAGGCCTGGGCCATGGCCGGACGCTGTTCCTCGTTATGAAGAAGTAAGTGAC
863225250	214439	NM_004366.5(CLCN2):c.925C>T (p.Arg309Ter)	CLCN2	Sep 09, 2015	MedGen:C3810242,OMIM:615651,Orphanet:ORPHA363540	Leukoencephalopathy with ataxia	germline	3	184357240	TTAGAGACTATTACAGCCCTCTTCAAAACCCGATTCCGGCTCGACTTCCCCTTTGACCTGC
397514477	40113	NM_001031726.3(C19orf12):c.32C>T (p.Thr11Met)	C19orf12	Jun 14, 2016	MedGen:C3280371,OMIM:614298,Orphanet:ORPHA289560;MedGen:CN517202	Neurodegeneration with brain iron accumulation 4;not provided	germline	19	29708415	CCTCTGAACTTCTCCCTCGAAGGCCCGCCACGATGACTATCATGGTGGAGGACATCATGAA
137852562	24843	NM_000044.4(AR):c.2323C>T (p.Arg775Cys)	AR	Oct 01, 2013	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67721837	TTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGT
199422289	47733	NM_198253.2(TERT):c.97C>T (p.Pro33Ser)	TERT	May 10, 2012	MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000	Idiopathic fibrosing alveolitis, chronic form	not provided	5	1294893	CCGCTGGCCACGTTCGTGCGGCGCCTGGGGCCCCAGGGCTGGCGGCTGGTGCAGCGCGGGG
876660797	233359	NM_005732.3(RAD50):c.2284C>T (p.Gln762Ter)	RAD50	Sep 23, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132603376	AACAAACTGCAGAATGTCAATAGAGACATACAGCGCCTAAAGAACGACATAGAAGAACAAG
876659250	236595	NM_007194.3(CHEK2):c.1459C>T (p.Gln487Ter)	CHEK2	May 02, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	22	28694034	ACAGAAGAAGCCTTAAGACACCCGTGGCTTCAGGTGGGTGTGGGACAGTGCCTGCTAGCAT
121908663	21311	NM_002335.3(LRP5):c.2557C>T (p.Gln853Ter)	LRP5	Nov 16, 2001	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68413742	GACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACT
-1	467932	NM_000088.3(COL1A1):c.4090C>T (p.Gln1364Ter)	COL1A1	Jun 27, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline	17	50185936	TTCCTGCGCCTGATGTCCACCGAGGCCTCCCAGAACATCACCTACCACTGCAAGAACAGCG
80359163	67417	NM_000059.3(BRCA2):c.9100C>T (p.Gln3034Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	germline	13	32379896	AACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTC
1060501186	399698	NM_004572.3(PKP2):c.1844C>T (p.Ser615Phe)	PKP2	Oct 17, 2016	MedGen:C1836906,OMIM:609040	Arrhythmogenic right ventricular cardiomyopathy, type 9	germline	12	32822594	AGAATTGTGTGTGCATTCTTCATAACCTCTCCTACCAGCTGGAGGCAGAGCTCCCAGAGAA
587781722	151118	NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter)	ATM	Aug 15, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108310305	ATCTATGCAGATAAGAAAAGTATGGATGATCAAGAGAAAAGGTAATGGAATTTAGAATTTT
104894083	21007	NM_006269.1(RP1):c.2035C>T (p.Gln679Ter)	RP1	Aug 01, 1999	MedGen:C0220701,OMIM:180100	Retinitis pigmentosa 1	germline	8	54625917	GCCAGCAAAAAGAAGAAAAAATCTCGACAGCAAGCAATAAATTCCAGGTATCAAGATGGAC
121918305	19850	NM_012179.3(FBXO7):c.65C>T (p.Thr22Met)	FBXO7	Jan 20, 2009	MedGen:C1850100,OMIM:260300,Orphanet:ORPHA171695	Parkinson disease 15	germline	22	32475067	GGCCGCTGGAGGTGCCCGAGACGGAGCCGACGCTGGGGCATTTGCGCTCGCACCTGAGGCA
121918370	15434	NM_144612.6(LOXHD1):c.2008C>T (p.Arg670Ter)	LOXHD1	Sep 12, 2016	MedGen:C2746083,OMIM:613079	Deafness, autosomal recessive 77	germline	18	46572125	GACAAGGATAAGGATGATGGGCAGCTGGTCCGAGAGTTGCTACCCAGTGACAGCAGCGCGA
587779745	131863	NM_020732.3(ARID1B):c.4102C>T (p.Gln1368Ter)	ARID1B	Feb 17, 2014	MedGen:CN185481	Coffin Siris/Intellectual Disability	germline	6	157198899	TATGGAGGGCACCAGCCCGGCCTGTACCCACAGCAGCCGGTGAGTTGGCAAGTGGGCGTGG
5030810	221350	NM_000551.3(VHL):c.337C>T (p.Arg113Ter)	VHL	Nov 26, 2016	Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome	germline	3	10142184	CCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACC
397515621	79339	NM_130810.3(DNAAF4):c.808C>T (p.Arg270Ter)	DNAAF4	Sep 22, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C3809641,OMIM:615482	Ciliary dyskinesia;Primary ciliary dyskinesia 25	germline	15	55439557	TTCTAGTGGCTACACAAACAAGCTGAGGCACGAAGAGCAATGAATACTGACATAGCTGAAC
281875190	38973	NM_003070.4(SMARCA2):c.2815C>T (p.His939Tyr)	SMARCA2	Feb 26, 2012	MedGen:C1303073,OMIM:601358,Orphanet:ORPHA3051,SNOMED CT:401046009;MedGen:CN517202	Nicolaides-Baraitser syndrome;not provided	germline	9	2088545	GAAGAAACTATATTGATCATCAGGCGTCTACATAAGGTGTTAAGACCATTTTTACTAAGGA
121913301	28115	NM_000321.2(RB1):c.1072C>T (p.Arg358Ter)	RB1	May 08, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline;somatic;unknown	13	48368549	TTATTTAGTTTTGAAACACAGAGAACACCACGAAAAAGTAACCTTGATGAAGAGGTGAATG
886040978	262639	NM_017780.3(CHD7):c.496C>T (p.Gln166Ter)	CHD7	Sep 05, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60741928	ATACGAGCCCCCTACCAGCAGCAGCAGCCACAGCCGCAGCCACCGCAGCCGGCTCCGTCGG
137854436	15810	NM_198488.3(FAM83H):c.1192C>T (p.Gln398Ter)	FAM83H	Feb 01, 2008	MedGen:C0399376,OMIM:130900,Orphanet:ORPHA100032,SNOMED CT:109471001	Amelogenesis imperfecta, hypocalcification type	germline	8	143728269	GGGGAGCTCGCGGGCGCGCGGGGCTTCTTCCAGGCGCGGCACCTGGAGATGGACGCCTTCA
121434412	21685	NM_003659.3(AGPS):c.926C>T (p.Thr309Ile)	AGPS	Jan 15, 2001	MedGen:C1838612,OMIM:600121,Orphanet:ORPHA309803	Rhizomelic chondrodysplasia punctata type 3	germline	2	177461948	GTCATGAACCAGATTCCCTGGAGTTCAGTACTGTAGGAGGATGGGTATCTACTCGCGCATC
80358828	66641	NM_000059.3(BRCA2):c.5959C>T (p.Gln1987Ter)	BRCA2	Nov 24, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32340314	ATTTTTAGCACAGCAAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAA
387906631	38666	NM_001145661.1(GATA2):c.1061C>T (p.Thr354Met)	GATA2	Oct 02, 2014	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MedGen:C3280030,OMIM:614172,Orphanet:ORPHA228423;MedGen:CN118027;MeSH:D009190,MedGen:C0026986,OMIM:614286	Acute myeloid leukemia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Leukemia, acute myeloid, susceptibility to;Myelodysplastic syndrome	germline;somatic	3	128481901	GAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGC
398124152	100972	NM_004453.3(ETFDH):c.1367C>T (p.Pro456Leu)	ETFDH	Oct 27, 2016	MedGen:C0268596,OMIM:231680,Orphanet:ORPHA26791,SNOMED CT:22886006;MedGen:C0268596,OMIM:231680,Orphanet:ORPHA26791,SNOMED CT:22886006;MedGen:CN517202	Glutaric aciduria, type 2;Glutaric aciduria, type 2;not provided	germline	4	158706270	AAGAGCTATATTCTGTTAGAAATATAAGACCGTCCTGCCACGGAGTACTGGGTGTATATGG
368085516	263635	NM_181789.2(GLDN):c.1435C>T (p.Arg479Ter)	GLDN	Nov 09, 2016	MedGen:C4310670,OMIM:617194	Lethal congenital contracture syndrome 11	germline	15	51404533	AAATCCAAGGCTGGCAACGCCTTCATTGCCCGAGGAATCCTCTATGTCACAGACACCAAAG
61751408	22921	NM_000350.2(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4	Apr 06, 2017	MedGen:C1858806,OMIM:604116;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Cone-rod dystrophy 3;Stargardt disease 1;not provided	germline	1	94005509	TGTCCTCAGTTTGATGCAATTGATGAGCTGCTCACAGGACGAGAACATCTTTACCTTTATG
80356889	69097	NM_007294.3(BRCA1):c.1999C>T (p.Gln667Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	germline	17	43093532	CAAATGCCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTG
1064793482	406842	NM_020732.3(ARID1B):c.4456C>T (p.Gln1486Ter)	ARID1B	Apr 14, 2015	MedGen:CN517202	not provided	germline	6	157201050	CAGAACAGGCAGGGCCCTGGCGGCCCTACACAGGCGCCCCCTTACCCAGGCATGAACCGCA
771373235	404693	NM_152773.4(TCTEX1D2):c.262C>T (p.Arg88Ter)	TCTEX1D2	Mar 26, 2017	MedGen:CN241837,OMIM:617405	Short-rib thoracic dysplasia 17 with or without polydactyly	germline	3	196306998	TATTTTTTCTTTCTAGAAATGGGATTTGACCGATACAAAATGGTGGTGCAAGTAGTGATTG
132630306	26099	NM_000252.2(MTM1):c.670C>T (p.Arg224Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641410	CGGAGAGTTGCAACTTTTAGGTCCCGAAATCGAATTCCAGTGAGTACTGCAATTAACGTTT
397514728	75242	NM_000388.3(CASR):c.662C>T (p.Pro221Leu)	CASR	Jan 14, 2015	MedGen:C0342345,OMIM:601198;MedGen:CN517202	Hypocalcemia, autosomal dominant 1;not provided	germline	3	122261697	CAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGA
121908678	21251	NM_001126105.2(SLC7A7):c.1228C>T (p.Arg410Ter)	SLC7A7	Jan 01, 2008	MedGen:C0268647,OMIM:222700,Orphanet:ORPHA470,SNOMED CT:303852004	Lysinuric protein intolerance	germline	14	22774371	CAGCTTTATCTGCGCTGGAAGGAGCCTGATCGACCTCGTCCCCTCAAGGTAAGGCAACTCC
75559353	17891	NM_020184.3(CNNM4):c.2149C>T (p.Gln717Ter)	CNNM4	Feb 01, 2009	MedGen:C1857588,OMIM:217080,Orphanet:ORPHA1021	Cone-rod dystrophy amelogenesis imperfecta	germline	2	96809338	TTCCTCATGCAGATCACTCGGCAGCAGTACCAGAACGGGCTGCTGGCTTCTCGCATGGAGA
398123852	100354	NM_004006.2(DMD):c.1261C>T (p.Gln421Ter)	DMD	Sep 12, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32644202	AAATTATCAGAAGATGAAGAAACTGAAGTACAAGAGCAGATGAATCTCCTAAATTCAAGAT
779614747	187703	NM_001165963.1(SCN1A):c.5656C>T (p.Arg1886Ter)	SCN1A	Dec 12, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	165991619	CTAGGAGAGAGTGGAGAGATGGATGCTCTACGAATACAGATGGAAGAGCGATTCATGGCTT
869025280	223018	NM_020771.3(HACE1):c.655C>T (p.Arg219Ter)	HACE1	Feb 04, 2016	MedGen:C4225215,OMIM:616756,Orphanet:ORPHA464282	Spastic paraplegia and psychomotor retardation with or without seizures	germline	6	104796988	CAGAGAGATACAGCACAGATCCTACTATTACGAGGAGCCAAATATCTGCCAGATAAAAATG
727503210	174787	NM_000256.3(MYBPC3):c.979C>T (p.Gln327Ter)	MYBPC3	Jul 31, 2014	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	11	47346318	GCAGAGGAGGACGTGTGGGAGATCCTACGGCAGGCACCCCCATCTGAGTACGAGCGCATCG
137852252	25644	NM_000133.3(F9):c.998C>T (p.Pro333Leu)	F9	Oct 09, 2017	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561683	AACCCTTAGTGCTAAACAGCTACGTTACACCTATTTGCATTGCTGACAAGGAATACACGAA
-1	472085	NM_000033.3(ABCD1):c.1270C>T (p.Gln424Ter)	ABCD1	Mar 10, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153736390	GGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACT
118192180	76893	NM_000540.2(RYR1):c.14473C>T (p.Arg4825Cys)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38580090	CTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATG
273898674	69115	NM_007294.3(BRCA1):c.2059C>T (p.Gln687Ter)	BRCA1	May 17, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;Neoplasm of the breast	germline	17	43093472	GGAGCCAAGAAGAGTAACAAGCCAAATGAACAGACAAGTAAAAGACATGACAGCGATACTT
267606682	19668	NM_021830.4(TWNK):c.1120C>T (p.Arg374Trp)	TWNK	May 02, 2017	MedGen:C1836439,OMIM:609286;MedGen:CN517202	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;not provided	germline	10	100989330	CACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATG
121913580	29325	NM_000254.2(MTR):c.1753C>T (p.Arg585Ter)	MTR	Jul 01, 2002	MedGen:C1855128,OMIM:250940,Orphanet:ORPHA2170	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	germline	1	236852578	GGAGGTCTTTCCAACTTGTCCTTCTCCTTCCGAGGAATGGAAGCCATTCGAGAAGCAATGC
375661404	76339	NM_178170.2(NEK8):c.1795C>T (p.Arg599Ter)	NEK8	Jun 01, 2013	MedGen:C3809434,OMIM:615415	Renal-hepatic-pancreatic dysplasia 2	germline	17	28741140	CAGCACGGACAGTTGGGCACCAATACTCGCCGAGGCAGTCGGGCACCCTGTAAGGTCCAAG
142991475	263942	NM_002016.1(FLG):c.1063C>T (p.Gln355Ter)	FLG	Mar 09, 2016	MedGen:CN517202	not provided	germline	1	152313823	AGTCATGGGCACTCTGCAGACAGCTCCAGACAATCAGGCACTCGTCACGCAGAGACTTCCT
267607054	21466	NM_003060.3(SLC22A5):c.1195C>T (p.Arg399Trp)	SLC22A5	Sep 08, 2016	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline;unknown	5	132390832	TTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGCCACTGCCCTCTTCC
483353067	143138	NM_001164342.2(ZBTB20):c.1802C>T (p.Thr601Ile)	ZBTB20	-	MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042	Primrose syndrome	de novo	3	114350276	AGAACTACGTCAAGCACATGTTCGTACACACAGGTGAGTGTCACCCCACCTGGAGGCCTGG
104893624	29059	NM_003467.2(CXCR4):c.1000C>T (p.Arg334Ter)	CXCR4	May 01, 2003	MedGen:C1834176;MedGen:C0472817,OMIM:193670,Orphanet:ORPHA51636,SNOMED CT:234571003	Myelokathexis, isolated;Warts, hypogammaglobulinemia, infections, and myelokathexis	unknown	2	136114928	TCCAGCCTCAAGATCCTCTCCAAAGGAAAGCGAGGTGGACATTCATCTGTTTCCACTGAGT
1131691949	421990	NM_015346.3(ZFYVE26):c.7060C>T (p.Gln2354Ter)	ZFYVE26	May 24, 2017	MedGen:CN517202	not provided	germline	14	67754139	TTGCATCGGTGCGAAAGTGCTGGGACCTCTCAAATCACCACTTTGCCTCTGCCAACCCTGT
267606762	15070	NM_138413.3(HOGA1):c.289C>T (p.Arg97Cys)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97598852	AGTGAGCGCCTCGAGGTGGTGAGCCGTGTGCGCCAGGCCATGCCCAAGAACAGGCTCCTGC
111033658	36471	NM_000155.3(GALT):c.199C>T (p.Arg67Cys)	GALT	May 08, 2017	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34647205	GTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTG
121912996	31882	NM_004415.3(DSP):c.5800C>T (p.Arg1934Ter)	DSP	Jan 17, 2017	MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687;MedGen:CN517202	Epidermolysis bullosa, lethal acantholytic;not provided	germline	6	7583062	ACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGAC
775180716	247640	NM_001080114.1(LDB3):c.728C>T (p.Pro243Leu)	LDB3	Aug 16, 2016	Human Phenotype Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED CT:699269005	Myofibrillar myopathy	unknown	10	86692544	CCAGCTCCTTTCTACCAACAGTGCAAGACCCTGATGAAGAAGCTCTGCGAAGGTCAAGGTA
-1	452358	NM_145860.1(PDCD10):c.301C>T (p.Gln101Ter)	PDCD10	May 02, 2017	MedGen:C1864040,OMIM:603285	Cerebral cavernous malformations 3	germline	3	167695690	TATATGATTGAACGACCAGAGCCAGAATTCCAAGACCTAAACGAAAAGGCACGAGCACTTA
397507667	66132	NM_000059.3(BRCA2):c.3442C>T (p.Gln1148Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32337797	CAGAAGAGTACATTTGAAGTGCCTGAAAACCAGATGACTATCTTAAAGACCACTTCTGAGG
387907045	39854	NM_198525.2(KIF7):c.3001C>T (p.Gln1001Ter)	KIF7	Jun 01, 2011	Gene:46,MedGen:C0796147,OMIM:200990,Orphanet:ORPHA36	Acrocallosal syndrome, Schinzel type	germline;inherited	15	89631605	CAGCTGCGGCAGGGCAGCGCCCAGAGCCAGCAGCAGATCCGCGGGGAGATCGACAGCCTGC
121909309	23567	NM_000178.3(GSS):c.847C>T (p.Arg283Cys)	GSS	Nov 01, 1996	Human Phenotype Ontology:HP:0003343,MedGen:C0398746,OMIM:266130,Orphanet:ORPHA289846,SNOMED CT:234589002	Gluthathione synthetase deficiency	germline	20	34932121	GTCTTCTTCCCTCTGCAGAATTGGGAAGCACGTCTACTGCTGGAGAGGTCACATGCTGCCA
786204688	186707	NM_138694.3(PKHD1):c.9319C>T (p.Arg3107Ter)	PKHD1	May 13, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	51748297	GCAGGATCAGAGAGACTTGGCTTTCACATCCGAGGCCACAAGTGCTCCTCTTGTGAACTGC
80357262	69729	NM_007294.3(BRCA1):c.3967C>T (p.Gln1323Ter)	BRCA1	Nov 18, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43091564	CAGGATCCTTTCTTGATTGGTTCTTCCAAACAAATGAGGCATCAGTCTGAAAGCCAGGGAG
587777247	171839	NM_005211.3(CSF1R):c.2342C>T (p.Ala781Val)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056319	TCCCTCAGTGCATCCACCGGGACGTGGCAGCGCGTAACGTGCTGTTGACCAATGGTCATGT
876659533	236324	NM_032043.2(BRIP1):c.2053C>T (p.Gln685Ter)	BRIP1	Jun 02, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61776445	GAAGTGGGAGCACTTTTGTTATCTGTGTGCCAGACTGTGAGCCAAGGAATTTTGTGTTTCT
797044896	205348	NM_006306.3(SMC1A):c.3196C>T (p.Arg1066Cys)	SMC1A	Jul 30, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	X	53382595	AAGCAGGCATTCGAACAGATCAAGAAGGAGCGCTTTGACCGCTTCAATGCTTGTTTTGAAT
775437084	463539	NM_004863.3(SPTLC2):c.547C>T (p.Arg183Trp)	SPTLC2	Nov 22, 2017	MedGen:C3150896,OMIM:613640	Hereditary sensory and autonomic neuropathy type IC	germline	14	77576851	ATGGGTTCCTACAACTATCTTGGATTTGCACGGAATACTGGATCATGTCAAGAAGCAGCCG
387907298	45812	NM_000023.3(SGCA):c.574C>T (p.Arg192Ter)	SGCA	Sep 24, 2012	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline	17	50168562	GGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCCTAGAG
80356487	27039	NM_000151.3(G6PC):c.1039C>T (p.Gln347Ter)	G6PC	Jul 03, 2017	MedGen:C2919796,OMIM:232200;MedGen:CN517202	Glycogen storage disease type 1A;not provided	germline;unknown	17	42911391	TCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGT
397514660	48735	NM_025099.5(CTC1):c.859C>T (p.Arg287Ter)	CTC1	Mar 12, 2013	MedGen:C2677299,OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts 1	germline	17	8236276	CCTGGTACAGCCTATGTGCTGACAGAACTGCGAGTGTCCAAGATCCGTGGTCAGCGCCAGC
122454127	26694	NM_004586.2(RPS6KA3):c.340C>T (p.Arg114Trp)	RPS6KA3	Jan 01, 1999	MedGen:C0265252,OMIM:303600,SNOMED CT:15182000	Coffin-Lowry syndrome	germline	X	20195131	ATACAATCTTTTATAGTTCGAGACCGAGTTCGGACAAAAATGGAACGTGATATCTTGGTAG
794727270	192361	NM_003688.3(CASK):c.79C>T (p.Arg27Ter)	CASK	Jun 12, 2014	MedGen:C1845546,OMIM:300422;MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	FG syndrome 4;Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline	X	41853208	TTGTTTTATAGGGGTCCCTTCAGTGTTGTACGACGATGTATCAACAGAGAAACTGGGCAAC
28940282	17552	NM_000346.3(SOX9):c.493C>T (p.His165Tyr)	SOX9	Dec 01, 2001	MedGen:C1861923	Acampomelic campomelic dysplasia	germline	17	72122780	GTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACC
1131690810	420600	NM_004360.4(CDH1):c.1531C>T (p.Gln511Ter)	CDH1	Jul 09, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68815725	GTGGGCCAGGAAATCACATCCTACACTGCCCAGGAGCCAGACACATTTATGGAACAGAAAA
753330544	195505	NM_206933.2(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C1848634,OMIM:276901	Retinitis pigmentosa;Usher syndrome, type 2A	germline;unknown	1	215674595	GCACAGCTAGTGTGTCAAAATCTGCCTGGACAATGGAGGCCCTGCCAGAGAACATGGACTC
193922136	44478	NM_000074.2(CD40LG):c.761C>T (p.Thr254Met)	CD40LG	Feb 26, 2016	MedGen:C0272236,SNOMED CT:82286005;MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088	Hyperimmunoglobulin M syndrome;Immunodeficiency with hyper IgM type 1	germline	X	136659390	CAAGCCAAGTGAGCCATGGCACTGGCTTCACGTCCTTTGGCTTACTCAAACTCTGAACAGT
752697861	449354	NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)	TTN	Aug 04, 2017	MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922	Limb-girdle muscular dystrophy, type 2J	germline	2	178534092	TCTACCCAAGTGACTTGGTACTTTGGCGTCCGACAGCTGGAGAACAGTGAGAAATACGAAA
886044402	274498	NM_004006.2(DMD):c.4312C>T (p.Gln1438Ter)	DMD	Sep 01, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32390103	AAGAAACATAATCAGGGGAAGGAGGCTGCCCAAAGAGTCCTGTCTCAGATTGATGTTGCAC
111401431	44742	NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys)	FBN1	Jun 27, 2017	MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED CT:254090007;MedGen:CN239144;MedGen:C1851286,OMIM:129600;MedGen:C1851286,OMIM:129600;MedGen:C3280054,OMIM:614185;MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715;MedGen:C4310796,OMIM:616914,Orphanet:ORPHA300382;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:C1869115,OMIM:608328,Orphanet:ORPHA2084	Acromicric dysplasia;Aortic aneurysm, ascending, and dissection;Ectopia lentis, isolated, autosomal dominant;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan lipodystrophy syndrome;Marfan syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome 2	germline;unknown	15	48468097	TTTTGTGTTTGTATATGGTAAATAGATACCCGCTCTGGAAATTGCTATTTGGATATTCGAC
864621974	204427	NM_014112.4(TRPS1):c.1693C>T (p.Gln565Ter)	TRPS1	Apr 01, 2015	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115604276	GTAGTGGGGCCACTTCTCCGTCATTATCAACAGCTCCATAACATTCACAAGTGTACCATTA
80338912	23080	NM_003221.3(TFAP2B):c.706C>T (p.Arg236Cys)	TFAP2B	Jan 02, 2013	MedGen:C1868570,OMIM:169100,Orphanet:ORPHA46627	Char syndrome	germline	6	50836165	ACCGGCGAGGTGTTTTGCTCCGTCCCAGGCCGTTTGTCTCTGCTCAGTTCAACTTCGAAGT
-1	442050	NM_000068.3(CACNA1A):c.6046C>T (p.Gln2016Ter)	CACNA1A	May 03, 2017	MedGen:CN517202	not provided	germline	19	13212653	GGACCTGGCCAGAACGCCCTCCCCTCCACCCAGCTGGACCCAGGAGGAGCCCTGTGAGTGT
587777006	70565	NM_006494.3(ERF):c.547C>T (p.Arg183Ter)	ERF	Apr 07, 2017	MedGen:CN029978,OMIM:123100;Human Phenotype Ontology:HP:0004443,MedGen:C1833340,OMIM:600775	Craniosynostosis 1;Craniosynostosis 4	germline	19	42249565	TTCTCGGCTGTGGTGGCCCGCCGCCTGGGCCGAGGCTCAGTCAGTGACTGTAGTGATGGCA
137852849	17708	NM_001164675.1(SUMF1):c.836C>T (p.Ala279Val)	SUMF1	Oct 18, 2016	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003;MedGen:CN517202	Multiple sulfatase deficiency;not provided	germline;unknown	3	4417132	ACACTGGTGAGGATGGCTTCCAAGGAACTGCGCCTGTGAGTAATGAGACCTCTGCAGGAGG
121908212	23527	NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met)	CACNA1A	Aug 30, 2016	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006;MedGen:C1832894,OMIM:141500;MedGen:C1832885;MedGen:CN517202	Episodic ataxia type 2;Familial hemiplegic migraine type 1;Migraine, sporadic hemiplegic, with progressive cerebellar ataxia;not provided	de novo;germline	19	13303877	TGTGTTTCTTCCTCCCCTTTCAGATCCTGACGGGCGAAGACTGGAACGAGGTCATGTACGA
774765029	396209	NM_000553.4(WRN):c.2665C>T (p.Arg889Ter)	WRN	Nov 02, 2016	MedGen:C0043119,OMIM:277700,Orphanet:ORPHA902,SNOMED CT:51626007	Werner syndrome	germline	8	31124556	CTTCTTACTGAGATACGTAATGAGAAGTTTCGATTATACAAATTAAAGATGATGGCAAAGA
121918041	28558	NM_000297.3(PKD2):c.1213C>T (p.Gln405Ter)	PKD2	May 31, 1996	MedGen:C2751306,OMIM:613095	Polycystic kidney disease 2	germline	4	88043351	TTGTCAAGAACAAGAGAGGAAACAGCTGCACAAGTTGCTAGCCTCAAGAAAAATGTCTGGC
121918672	27679	NM_000458.3(HNF1B):c.826C>T (p.Arg276Ter)	HNF1B	Aug 01, 2002	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	Familial hypoplastic, glomerulocystic kidney	germline	17	37731814	CCATCCATTCCCAGGGCAGAATGTTTGCAGCGAGGGGTGTCCCCCTCCAAAGCCCACGGCC
398124466	102231	NM_133433.3(NIPBL):c.2602C>T (p.Arg868Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36985782	TCTGATAGTTCAAAAACTGATAAACTAGAACGAAAACACAGGCATGAATCAGGGGACTCAA
281874747	36106	NM_000495.4(COL4A5):c.4751C>T (p.Pro1584Leu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694869	TCGCAGTTCACAGTCAGACGATCCAGATTCCCCATTGTCCTCAGGGATGGGATTCTCTGTG
370022675	178795	NM_000081.3(LYST):c.925C>T (p.Arg309Ter)	LYST	Jan 15, 2015	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	germline	1	235809893	TGCTGCAGTCTGAGCGACAACTTGGAGAGTCGAGTAGTTTCTGCAGGTTGGACCGAAGAAC
-1	465093	NM_025137.3(SPG11):c.4591C>T (p.Gln1531Ter)	SPG11	Feb 28, 2017	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	germline	15	44595303	TCAGTCATCTGGAGAACATTATTAACAAGACAAAAGAGCAAAACTCTCATCAGAGGTTTCC
63749843	94826	NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6	Aug 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided;not specified	germline;unknown	2	47803449	GATGTTTTACTGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATGTGTCGCCCAG
780619951	212851	NM_000051.3(ATM):c.2413C>T (p.Arg805Ter)	ATM	Nov 08, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108259022	CCAAATAAGATTGCATCTGGCTTTTTCCTGCGATTGTTAACATCAAAGCTAATGAATGACA
751772225	453537	NM_153717.2(EVC):c.1684C>T (p.Gln562Ter)	EVC	Mar 22, 2017	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	germline	4	5783672	GAAGAGTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGGGAAGT
202236144	457208	NM_001277115.1(DNAH11):c.7279C>T (p.Gln2427Ter)	DNAH11	Feb 28, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21725823	TTCTTTTGTTCTCCTTAGATTTCTGATTATCAAGCTGACTTCAGTCGGTGGTGGCAGAAAG
587780150	133454	NM_005732.3(RAD50):c.1393C>T (p.Gln465Ter)	RAD50	Sep 15, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	5	132589778	AATGAGCTGAAAAATGTGAAGTATGAATTACAGCAGTTGGAAGGATCTTCAGACAGGATTC
57077886	77785	NM_170707.3(LMNA):c.29C>T (p.Thr10Ile)	LMNA	Feb 18, 2016	MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:CN517202	Dilated cardiomyopathy 1A;Familial partial lipodystrophy 2;not provided	germline	1	156114947	CCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCC
397514522	48122	NM_000359.2(TGM1):c.1744C>T (p.Gln582Ter)	TGM1	Jan 18, 2013	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24255155	AACCGGGGCTCAGCGGAGGATGTGGCCATGCAGGTGGAGGCACAGGACGCGGTGATGGGGC
104893687	16944	NM_000060.4(BTD):c.235C>T (p.Arg79Cys)	BTD	Sep 28, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency;Biotinidase deficiency;Biotinidase deficiency	germline;unknown	3	15635614	CTGAGTCTGAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGAACCAGA
80356687	33899	NM_000083.2(CLCN1):c.803C>T (p.Thr268Met)	CLCN1	Mar 23, 2016	MedGen:C0027127,Orphanet:ORPHA206973;MedGen:CN517202	Myotonia congenita;not provided	germline	7	143324442	AGCAGCCATACTACTACTCTGATATCCTGACGGTGGGCTGTGCTGTGGGAGTCGGCTGTTG
398122364	94422	NM_052813.4(CARD9):c.301C>T (p.Arg101Cys)	CARD9	Oct 31, 2013	MedGen:C1859353,OMIM:212050,Orphanet:ORPHA457088	Candidiasis, familial, 2	germline	9	136371345	TACAAGAAGGTCACAGGCAAGGAGCCGGCCCGCGTCTTCTCCATGATCATCGGTGAGTGAC
267607098	33451	NM_003849.3(SUCLG1):c.448C>T (p.Gln150Ter)	SUCLG1	Oct 01, 2010	MedGen:C3151476,OMIM:245400,Orphanet:ORPHA17	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	germline	2	84441330	GTTGTGTGTATCACTGAAGGAATTCCCCAGCAGGACATGGTACGAGTCAAGCACAAACTGC
397514733	75252	NM_003793.3(CTSF):c.1439C>T (p.Ser480Leu)	CTSF	Apr 01, 2013	MedGen:C3715049,OMIM:615362,Orphanet:ORPHA352709	Ceroid lipofuscinosis, neuronal, 13	germline	11	66563949	GGGCCTGTGGCGTGAACACCATGGCCAGCTCGGCGGTGGTGGACTGAAGAGGGGCCCCCAG
-1	482120	NM_016239.3(MYO15A):c.10018C>T (p.Gln3340Ter)	MYO15A	Jan 16, 2018	MedGen:CN517202	not provided	germline	17	18167659	CCGGCCAGCCGGCCCAGCGAGCAGCTGCTGCAGCAGGTGTCCAAGCTGGCTTCACTGCAGC
132630259	26221	NM_002621.2(CFP):c.298C>T (p.Arg100Trp)	CFP	Sep 01, 1995	MedGen:C1839455	Properdin deficiency, type II	germline	X	47628207	TCGGTGACGTGCTCTGAGGGCTCCCAGCTGCGGTACCGGCGCTGTGTGGGCTGGAATGGGC
-1	485841	NM_000044.4(AR):c.2104C>T (p.Leu702Phe)	AR	Feb 17, 2015	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711620	AACAACCAGCCCGACTCCTTTGCAGCCTTGCTCTCTAGCCTCAATGAACTGGGAGAGAGAC
879253881	244873	NM_001376.4(DYNC1H1):c.5884C>T (p.Arg1962Cys)	DYNC1H1	Oct 03, 2015	MedGen:CN517202	not provided	germline	14	102008244	GGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGT
587777323	132607	NM_006302.2(MOGS):c.370C>T (p.Gln124Ter)	MOGS	Jan 12, 2015	MedGen:C1853736,OMIM:606056,Orphanet:ORPHA79330	Congenital disorder of glycosylation type 2B	germline;unknown	2	74464705	ATTCTACCCCCAGGACTGATGTGGGCGCAGCAGGGCACCACCCCGGGGACTCCTAAGCTCA
139851890	187038	NM_000159.3(GCDH):c.416C>T (p.Ser139Leu)	GCDH	Apr 14, 2015	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric aciduria, type 1;not provided	germline;unknown	19	12893564	AGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAGTGTCCAGTCCTCCCTCGTCAT
137853284	462961	NM_000053.3(ATP7B):c.2332C>T (p.Arg778Trp)	ATP7B	Jul 24, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51958334	CCCATGCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCAAAGGTAACAG
886041951	264008	NM_000350.2(ABCA4):c.853C>T (p.Gln285Ter)	ABCA4	Aug 30, 2016	MedGen:CN517202	not provided	germline	1	94083357	GGAATATTATCTGATATGTCACCAAGAATTCAAGAGGTGAGTAGCCTGATGGTAGTAATTA
63750494	426829	NM_001171.5(ABCC6):c.3902C>T (p.Thr1301Ile)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16155012	ACCCCGGGCAGGTGGGCATCGTTGGCAGGACCGGGGCAGGGAAGTCCTCCCTGGCCAGTGG
727503949	177041	NM_000169.2(GLA):c.658C>T (p.Arg220Ter)	GLA	Jul 25, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398928	CTGTTTTCACAGCCCAATTATACAGAAATCCGACAGTACTGCAATCACTGGCGAAATTTTG
528583612	131956	NM_018297.3(NGLY1):c.1624C>T (p.Arg542Ter)	NGLY1	Nov 21, 2017	MedGen:C3808991,OMIM:615273,Orphanet:ORPHA404454;MedGen:CN517202	Congenital disorder of deglycosylation;not provided	germline	3	25720179	CATCCCTACTCCTTATAGGTATATTTGGCCCGAAAGGAAGGATCATCTTTTGCTTATATTT
200483245	422208	NM_000152.4(GAA):c.2269C>T (p.Gln757Ter)	GAA	Sep 03, 2015	MedGen:CN517202	not provided	germline	17	80117047	GGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACT
757369748	389283	NM_024675.3(PALB2):c.106C>T (p.Gln36Ter)	PALB2	Aug 19, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23638072	AGGGAATACAGCAAGACACTAGCCCGCCTTCAGGTAAGTGAATCGTATTCTCAAATTAAGG
104894002	20258	NM_018965.3(TREM2):c.97C>T (p.Gln33Ter)	TREM2	Mar 12, 2015	MedGen:C1857316,OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	germline	6	41161557	GTGTTCCAGGGCGTGGCGGGCCAGTCCCTGCAGGTGTCTTGCCCCTATGACTCCATGAAGC
1131690923	420710	NM_000455.4(STK11):c.640C>T (p.Gln214Ter)	STK11	Nov 29, 2012	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	1220623	TTCGCGGCGGACGACACCTGCCGGACCAGCCAGGGCTCCCCGGCTTTCCAGCCGCCCGAGA
121918625	27929	NM_006920.4(SCN1A):c.2923C>T (p.Leu975Phe)	SCN1A	Dec 04, 2012	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	germline	2	166036521	CATGTTTTTGTTGTTTTTAAGGTCCTGAATCTCTTTCTGGCCTTGCTTCTGAGCTCATTTA
192003551	192516	NM_020366.3(RPGRIP1):c.154C>T (p.Arg52Ter)	RPGRIP1	Mar 18, 2016	MedGen:C2750720,OMIM:608194	Cone-rod dystrophy 13	germline	14	21294745	AACCGGGAGGAATTGGAGGACAGTTTCTTTCGACTTCGCGAAGATCACATGTTGGTGAAGG
121908556	20941	NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	SCN4A	Dec 14, 2004	MedGen:CN074266,OMIM:170500;MedGen:C1868433	Hyperkalemic Periodic Paralysis Type 1;Normokalemic periodic paralysis, potassium-sensitive	germline	17	63957515	TTCACCCTTGCCCTCCCTGCTTGGCAGCTGCGGGTCTTCAAGCTGGCCAAGTCGTGGCCAA
267606672	26834	NM_000052.6(ATP7A):c.4156C>T (p.Pro1386Ser)	ATP7A	Mar 12, 2010	MedGen:C1845359,OMIM:300489,Orphanet:ORPHA139557	Distal spinal muscular atrophy, X-linked 3	germline	X	78045502	GTTTTTATGCCCATTGGTTTGGTTTTGCAGCCCTGGATGGGATCTGCAGCAATGGCTGCTT
779990936	216037	NM_000255.3(MUT):c.2179C>T (p.Arg727Ter)	MUT	Aug 04, 2017	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49431802	GGTGTTTCCAATGTATTTGGTCCTGGGACTCGAATTCCAAAGGCTGCCGTTCAGGTGCTTG
387906884	39368	NM_002334.3(LRP4):c.3508C>T (p.Arg1170Trp)	LRP4	Apr 01, 2014	MedGen:C3280402,OMIM:614305	Sclerosteosis 2	germline	11	46876494	GTGTTGGTGTGGCAGAACCTTGACAGTCCCCGGGCCATCGTACTGTACCATGAGATGGGGT
63751109	32118	NM_000249.3(MLH1):c.131C>T (p.Ser44Phe)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310	Lynch syndrome;Lynch syndrome II	germline	3	36996633	CTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGG
5030730	26322	NM_004006.2(DMD):c.3940C>T (p.Arg1314Ter)	DMD	Mar 25, 2014	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Duchenne muscular dystrophy;not provided	germline	X	32438372	AATGTGTTTCAGTCACTTGAAAATTTGATGCGACATTCAGAGGATAACCCAAATCAGATTC
121918368	16860	NM_016302.3(CRBN):c.1255C>T (p.Arg419Ter)	CRBN	Oct 11, 2013	MedGen:C1843942,OMIM:607417	Mental retardation, autosomal recessive 2	germline	3	3150939	ATGTCACCTCAAAAATTTTGGGGCTTAACGCGATCTGCTCTGTTGCCCACGATCCCAGACA
104894591	16600	NM_000263.3(NAGLU):c.1876C>T (p.Arg626Ter)	NAGLU	Dec 19, 2013	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-B;not provided	germline	17	42543882	TTCTTGCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCG
28940869	19031	NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)	POMGNT1	May 11, 2017	na;MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001;MedGen:CN517202	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3;Muscle eye brain disease;not provided	germline	1	46192397	CACACGGCTGAGGACCCAGCACTACTGTACCGTGTGGAGACCATGCCTGGGCTGGGCTGGG
587783159	166546	NM_003159.2(CDKL5):c.2671C>T (p.Gln891Ter)	CDKL5	Jun 10, 2014	MedGen:CN517202	not provided	germline	X	18628545	CAGGCCTCTGGCGGGAGCAGCAACATCCGGCAGGAACCCGCACCGAAGGGCAGGCCAGCCC
267608252	47476	NM_000288.3(PEX7):c.-45C>T	PEX7	Sep 13, 2012	Gene:8024,MedGen:C0034960,OMIM:266500,Orphanet:ORPHA773,SNOMED CT:25362006	Phytanic acid storage disease	not provided	6	136822621	TAACCGCGCCAGTGTGCCTCCGACTCGGAACGGCTTCCGCGGCCGGGGCAGCGAGGGCCGG
797044726	194257	NM_000033.3(ABCD1):c.1288C>T (p.Gln430Ter)	ABCD1	Oct 13, 2014	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153736408	CACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGC
72653777	426993	NM_001171.5(ABCC6):c.1798C>T (p.Arg600Cys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16187193	CGGTTTTCCTAGGCCCGGGTGTCCTTTGACCGTCTGGTCACCTTCCTCTGCCTGGAAGAAG
397514418	36417	NM_000060.4(BTD):c.1339C>T (p.His447Tyr)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645195	CTGTATGCCCTGGGGGTCTTTGATGGGCTTCACACAGTACATGGCACTTACTACATCCAAG
72547528	17245	NM_024006.5(VKORC1):c.292C>T (p.Arg98Trp)	VKORC1	Feb 05, 2004	MedGen:C1843832,OMIM:607473	Vitamin k-dependent clotting factors, combined deficiency of, 2	germline	16	31091334	CGGACCCTCTTCTGCCTTGCAGGTTGCCTGCGGACACGCTGGGCCTCTGTCCTGATGCTGC
137852357	25135	NM_000132.3(F8):c.6496C>T (p.Arg2166Ter)	F8	May 01, 1988	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154863161	CACAATATTTTTAACCCTCCAATTATTGCTCGATACATCCGTTTGCACCCAACTCATTATA
118204094	16484	NM_000190.3(HMBS):c.346C>T (p.Arg116Trp)	HMBS	Mar 01, 1993	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119089991	TCATTCTGTGCCCTTCCCTCCTCCCCCAGGCGGGAAAACCCTCATGATGCTGTTGTCTTTC
730880635	179340	NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter)	MYBPC3	Mar 12, 2012	MedGen:CN517202	not provided	germline	11	47343595	GCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGA
137852417	25262	NM_000132.3(F8):c.1648C>T (p.Arg550Cys)	F8	Jul 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154957061	CCAACTAAATCAGATCCTCGGTGCCTGACCCGCTATTACTCTAGTTTCGTTAATATGGAGA
797045378	209278	NM_000052.6(ATP7A):c.3466C>T (p.Gln1156Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78033776	TCCCTGGTTCAAATTGATGCCAGTAATGAACAGTCATCAACTTCGTCTTCCATGATTATTG
1057520742	379504	NM_001399.4(EDA):c.617C>T (p.Pro206Leu)	EDA	Aug 12, 2016	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005;MedGen:CN517202	Hypohidrotic X-linked ectodermal dysplasia;not provided	germline	X	70027947	CCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACC
118203549	57966	NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter)	TSC1	Dec 05, 2017	MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Malignant tumor of urinary bladder;Tuberous sclerosis syndrome;not provided	germline	9	132905999	CGGAAGACCCACTCGGCAGCCTCCAGTTCTCAGGGCGCCAGCGTGAACCCTGAGCCTTTAC
-1	434104	NM_019066.4(MAGEL2):c.1621C>T (p.Gln541Ter)	MAGEL2	Sep 26, 2017	MedGen:C3809877,OMIM:615547,Orphanet:ORPHA398069	Schaaf-yang syndrome	germline	15	23646122	CTGCCGGCCCCGCAGGTGCAGGCGGCGCCGCAGGTGCCTACGGCCCCACCTGCTACGCAGG
1064794062	408525	NM_000192.3(TBX5):c.1078C>T (p.Gln360Ter)	TBX5	Aug 31, 2015	MedGen:CN517202	not provided	germline	12	114356011	GAAGATTCCTTCTACCGCTCTAGCTATCCACAGCAGCAGGGCCTGGGTGCCTCCTACAGGA
104893956	31631	NM_001122742.1(ESR1):c.469C>T (p.Arg157Ter)	ESR1	Oct 20, 1994	MedGen:C1851467,OMIM:615363	Estrogen resistance	germline	6	151842613	TTTTTTCCCCCCAGGCCAAATTCAGATAATCGACGCCAGGGTGGCAGAGAAAGATTGGCCA
886038795	258815	NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter)	FBN1	Sep 24, 2012	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48411118	AAGAAGCCAGTGGCTGGAACCTATTCATTACAAATCAGTAGTACTCCACTTTATAAAAAGA
201431517	48426	NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT	Oct 31, 2017	Human Phenotype Ontology:HP:0001999,MedGen:C0424503;MedGen:C3554182,OMIM:614947,Orphanet:ORPHA319524;Human Phenotype Ontology:HP:0003688,MedGen:C4021724;Human Phenotype Ontology:HP:0011923,MedGen:C4020739;Human Phenotype Ontology:HP:0006915,MedGen:C1859200;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838951;Human Phenotype Ontology:HP:0002465,MedGen:C1848207;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;MedGen:CN517202	Abnormal facial shape;Combined oxidative phosphorylation deficiency 15;Decreased activity of cytochrome C oxidase in muscle tissue;Decreased activity of mitochondrial complex I;Inability to walk by childhood/adolescence;Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency;Poor speech;Short stature;not provided	germline;maternal;unknown	15	65021533	GCACTGCAAAGGAATTGGAAGCAGTGTTGTCAAGACTGGGTGCCAACATGGTATAATTCCC
5030813	272986	NM_000551.3(VHL):c.394C>T (p.Gln132Ter)	VHL	Jun 30, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10146567	GCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATG
886040549	261256	NM_000059.3(BRCA2):c.4783C>T (p.Gln1595Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32339138	ATCACAGCTGCCCCAAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTG
761533681	359063	NM_003038.4(SLC1A4):c.1369C>T (p.Arg457Trp)	SLC1A4	Apr 10, 2017	MedGen:C4225254,OMIM:616657,Orphanet:ORPHA447997;MedGen:CN517202	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly;not provided	germline	2	65020916	ATAGCTGCCTCTTCTTTTCCCACCAGGGACCGGACCACCACGGTGGTGAATGTGGAAGGGG
267607143	20038	NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)	TRPV4	Sep 08, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C2079540,OMIM:606071;Gene:8094,MedGen:C1838492,OMIM:600175,Orphanet:ORPHA1216;MedGen:C0027868,Orphanet:ORPHA68381;MedGen:C0751335,OMIM:181405,Orphanet:ORPHA431255,SNOMED CT:230248006;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 2C;Distal spinal muscular atrophy, congenital nonprogressive;Neuromuscular Diseases;Scapuloperoneal spinal muscular atrophy;not provided	germline	12	109798823	ACGGAGAACCCCCACAAGAAGGCGGACATGCGGCGCCAGGACTCGCGAGGCAACACAGTGC
121918248	16916	NM_000255.3(MUT):c.52C>T (p.Gln18Ter)	MUT	Dec 01, 2016	MedGen:C1855115;MedGen:C1855114,OMIM:251000	METHYLMALONIC ACIDURIA, mut(0) TYPE;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459415	CTTTTTTTACTTTCACCTCATTACCTGAGGCAGGTAAAAGAATCATCAGGCTCCAGGCTCA
1060500308	401707	NM_000267.3(NF1):c.3763C>T (p.Gln1255Ter)	NF1	Apr 05, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31235665	ACTCTGTTTGATTCTCGGCATTTACTCTACCAACTGCTCTGGAACATGTTTTCTAAAGAAG
796052086	200677	NM_138413.3(HOGA1):c.763C>T (p.Arg255Ter)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97601919	GTCCTGGGGGCTCAGGTGTGCCAGCTGGAGCGACTGTGCTGCACGGGGCAATGGGAAGATG
769222264	260128	NM_004483.4(GCSH):c.226C>T (p.Gln76Ter)	GCSH	Aug 23, 2016	MedGen:CN517202	not provided	germline	16	81090603	ATTGGAACAGTGGGAATCAGCAATTTTGCACAGGTATTGGATTATATTGAAATATTTGTCC
886041584	264019	NM_020451.2(SELENON):c.1090C>T (p.Gln364Ter)	SELENON	Mar 30, 2016	MedGen:CN517202	not provided	germline	1	25811533	AACATGGAGGTGGACATCGGCTACATACCCCAGGTGAGCGCACAGGAGGCTCCCATCCAGG
121965025	26956	NM_000203.4(IDUA):c.1861C>T (p.Arg621Ter)	IDUA	Jun 01, 1994	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473	Hurler syndrome	germline	4	1004292	ACAGGTGCTGTCTCTGGCTCCTACCGAGTTCGAGCCCTGGACTACTGGGCCCGACCAGGCC
886041422	264930	NM_001271043.2(NFIX):c.661C>T (p.Gln221Ter)	NFIX	May 22, 2017	MedGen:CN517202	not provided	germline	19	13073436	CCTTTCCCCTCTTCAGGGCACTTAAGTTTCCAGGACTGTTTTGTGACTTCCGGGGTCTGGA
727502791	171907	NM_003480.3(MFAP5):c.472C>T (p.Arg158Ter)	MFAP5	Dec 04, 2014	MedGen:C4015368,OMIM:616166	Aortic aneurysm, familial thoracic 9	germline	12	8648141	CCTAGGAGACTCCGTCGCTCCAATTACTTCCGACTTCCTCCCTGTGAAAATGTGGATTTGC
528165789	259952	NM_000051.3(ATM):c.1960C>T (p.Gln654Ter)	ATM	Sep 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108253875	TCATTCTCAGAAGTAGAAGAACTATTTCTTCAGACAACTTTTGACAAGATGGACTTTTTAA
771874163	200332	NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys)	ACADVL	Feb 08, 2017	MedGen:CN517202;MedGen:CN169374	not provided;not specified	germline	17	7223151	ACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACT
121913026	31831	NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp)	ERCC2	Aug 21, 2017	MedGen:C1866504,OMIM:601675;MedGen:CN517202	Trichothiodystrophy 1, photosensitive;not provided	germline	19	45352235	GAGGGTGTCCAGGTGGCCAAGTACTTCCTGCGGCAGATGGCACAGCCCTTCCACCGGGTGA
375009168	167376	NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu)	CPLANE1	Mar 22, 2017	MedGen:C3553264,OMIM:614615;MedGen:C2745997,OMIM:277170,Orphanet:ORPHA2754;MedGen:CN517202	Joubert syndrome 17;Orofaciodigital syndrome 6;not provided	germline	5	37201718	CATCAGTTATGGCCGATGCAGATATTCTTTCGGAGACATTTCAACTTCTGATAGACTCTGC
137852473	25372	NM_000132.3(F8):c.6967C>T (p.Arg2323Cys)	F8	Apr 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154837686	GTGAACTCTCTAGACCCACCGTTACTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGG
61750645	105327	NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp)	ABCA4	Jan 01, 2016	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C1866422,OMIM:601718;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Retinal dystrophy;Retinitis pigmentosa 19;Stargardt disease 1;not provided	germline;unknown	1	94001911	CTGGCTGGCACGTACAGTGGGGGCAACAAGCGGAAACTCTCCACAGCCATCGCACTCATTG
281864784	49815	NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter)	PRKAR1A	Sep 20, 2012	MedGen:C2607929,OMIM:160980	Carney complex, type 1	not provided	17	68525886	AAGACAAATGTGAAATTGTGGGGCATCGACCGAGACAGCTATAGAAGAATCCTCATGGTAA
527236152	152921	NM_001194958.2(KCNJ18):c.419C>T (p.Thr140Met)	KCNJ18	Jul 31, 2014	MedGen:C0268446,OMIM:188580,Orphanet:ORPHA79102,SNOMED CT:30967002	Thyrotoxic periodic paralysis	germline	17	21703205	TCATGGCGGCCTTCCTCTTCTCCATCGAGACGCAGACCACCATCGGCTACGGGCTGCGCTG
397507758	66435	NM_000059.3(BRCA2):c.5101C>T (p.Gln1701Ter)	BRCA2	Sep 06, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	germline	13	32339456	AAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAGAAAGAATAAATACTGCAGATTATG
-1	445047	NM_005554.3(KRT6A):c.490C>T (p.Arg164Cys)	KRT6A	Sep 25, 2017	MedGen:CN517202	not provided	germline	12	52492699	CCCACCATCCAGCGGGTGCGGGCTGAGGAGCGTGAACAGATCAAGACCCTCAACAACAAGT
1057516047	353890	NM_020458.3(TTC7A):c.2470C>T (p.Gln824Ter)	TTC7A	Sep 17, 2015	MedGen:C0220744,OMIM:243150,Orphanet:ORPHA436252,SNOMED CT:95472001	Multiple gastrointestinal atresias	inherited	2	47073816	GAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTG
786205227	188141	NM_014225.5(PPP2R1A):c.544C>T (p.Arg182Trp)	PPP2R1A	Nov 08, 2017	MedGen:C4225352,OMIM:616362,Orphanet:ORPHA457284;MedGen:CN517202	Mental retardation, autosomal dominant 36;not provided	de novo;germline	19	52212726	AACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGT
41542214	180157	NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter)	MLH1	Mar 10, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary nonpolyposis colon cancer;not provided	germline	3	37048979	GAATGCGCTATGTTCTATTCCATCCGGAAGCAGTACATATCTGAGGAGTCGACCCTCTCAG
267607177	15082	NM_001083961.1(WDR62):c.1408C>T (p.Gln470Ter)	WDR62	Sep 09, 2010	MedGen:C1858535,OMIM:604317	Primary autosomal recessive microcephaly 2	germline	19	36083099	CTGAAGGTCGTGTACGTGGAGAATGACATCCAGCACCTGCAGGACATGTCACACTTCCCAG
104894162	31662	NM_001002295.1(GATA3):c.829C>T (p.Arg277Ter)	GATA3	Jul 27, 2000	MedGen:C1840333,OMIM:146255,Orphanet:ORPHA2237	Barakat syndrome	germline	10	8064043	TGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACG
74315337	22994	NM_000261.1(MYOC):c.136C>T (p.Arg46Ter)	MYOC	Jun 01, 1999	MedGen:C4016749	Glaucoma 1, open angle, a, autosomal recessive	germline	1	171652476	CAGCTCAGGAAGGCCAATGACCAGAGTGGCCGATGCCAGTATACCTTCAGTGTGGCCAGTC
182812968	99222	NM_000543.4(SMPD1):c.1426C>T (p.Arg476Trp)	SMPD1	Jun 18, 2015	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006;MedGen:C0268243,OMIM:607616,Orphanet:ORPHA77293,SNOMED CT:39390005;MedGen:C0268243,OMIM:607616,Orphanet:ORPHA77293,SNOMED CT:39390005;MedGen:C0028064,SNOMED CT:58459009	Niemann-Pick disease, type A;Niemann-Pick disease, type B;Niemann-Pick disease, type B;Sphingomyelin/cholesterol lipidosis	germline;unknown	11	6393981	GAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCACCCA
786204321	186313	NM_000251.2(MSH2):c.1984C>T (p.Gln662Ter)	MSH2	May 19, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	2	47475249	CCTAATGACGTATACTTTGAAAAAGATAAACAGATGTTCCACATCATTACTGGTAAAAAAC
132630321	26087	NM_001399.4(EDA):c.1013C>T (p.Thr338Met)	EDA	Nov 01, 2008	MedGen:C1970757,OMIM:313500	Tooth agenesis, selective, X-linked, 1	germline	X	70035446	CCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCTATAC
185089786	39895	NM_024753.4(TTC21B):c.1231C>T (p.Arg411Ter)	TTC21B	Mar 01, 2011	MedGen:C3151185,OMIM:613819	Asphyxiating thoracic dystrophy 4	germline	2	165929290	CATGCAGTTCTTGCCATGAAGAAAAATAAACGACAAGAAGAAGTTATTAATTTGTTAAATG
-1	429203	NM_000352.4(ABCC8):c.3593C>T (p.Pro1198Leu)	ABCC8	Jan 20, 2016	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	germline	11	17402718	TGCAGCAGCTGGATGACACCACCCAGCTTCCACTTCTCTCACACTTTGCCGAAACCGTAGA
199775294	187112	NM_002310.5(LIFR):c.2074C>T (p.Arg692Ter)	LIFR	Sep 01, 2014	MedGen:C0796176,OMIM:601559,Orphanet:ORPHA3206	Stuve-Wiedemann syndrome	germline	5	38490283	TGCTGATATGTTCATCCTATAGATGAGTTTCGACCAGGTATAAGATATAATTTTTTCCTGT
200564757	48332	NM_001271885.1(AAGAB):c.43C>T (p.Arg15Ter)	AAGAB	Oct 05, 2012	Gene:619540,MedGen:C1835662,OMIM:148600	Keratosis palmoplantaris papulosa	germline	15	67236060	ATTCTTTTGCATATTATTTTAGGTATAAACCGACAAAAAGCTCAAGAATGGTGCATCAAAC
529232938	125792	NM_032861.3(SERAC1):c.202C>T (p.Arg68Ter)	SERAC1	Sep 01, 2013	MedGen:C3553597,OMIM:614739,Orphanet:ORPHA352328	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	germline	6	158150516	GCTGTGACATTAGATACTCAAGTGGTAGAACGAGAAAAAATGAAGTCATATATATATGTGC
28937890	19548	NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)	WFS1	Oct 01, 1998	MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009	Diabetes mellitus AND insipidus with optic atrophy AND deafness	germline	4	6301966	ACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCT
387907260	45676	NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp)	KCTD7	Aug 22, 2012	MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516	Epilepsy, progressive myoclonic 3	germline	7	66633410	CGGCACTACATCCCCACGGACTCCGAGGGCCGGTACTTCATCGACCGAGATGGCACACACT
397518021	57705	NM_206933.2(USH2A):c.5788C>T (p.Arg1930Ter)	USH2A	Apr 13, 2010	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216072958	CATCTTATTTCCATTTAAGAATACCTGTATCGAGTGATAGCCTCGCATGAAGGAGGTTCAG
312262851	49568	NM_003611.2(OFD1):c.823C>T (p.Gln275Ter)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13746948	AAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTTATGGG
118203961	16176	NM_001142617.1(STRA6):c.269C>T (p.Pro90Leu)	STRA6	Mar 01, 2007	MedGen:C1832661,OMIM:601186,Orphanet:ORPHA2470	Microphthalmia syndromic 9	germline	15	74196145	TCCTGCCCTGTCCTTGCCTCTGTGCTAGCCCTGTGGATTTCTTGGCTGGGGACAGGCCCCG
730880538	179318	NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter)	MYBPC3	Feb 08, 2013	MedGen:CN517202	not provided	germline	11	47342900	CCTGTGCTCATCACGCGCCCCTTGGAGGACCAGCTGGTGATGGTGGGGCAGCGGGTGGAGT
387906877	39357	NM_004247.3(EFTUD2):c.784C>T (p.Arg262Trp)	EFTUD2	Nov 07, 2014	MedGen:C1864652,OMIM:610536,Orphanet:ORPHA79113	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	germline	17	44876019	GCAGTCACTGTGTGCATCAACAAGATTGACCGGCTGATCCTGGAGCTGAAGCTGCCTCCAA
587783906	168361	NM_133433.3(NIPBL):c.2494C>T (p.Arg832Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36985674	CAAAAATCAGATGACAGGGGTGAATCAGAGCGACATCGAGGGGATCAGTCTAGGGTTCGAA
587776970	59545	NM_001145438.2(PGAP2):c.479C>T (p.Thr160Ile)	PGAP2	Apr 04, 2013	Gene:100689013,MedGen:C3280153,OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	germline	11	3824025	TCGCCTACTGGAACCACTACCTCAGCTGCACCTCCCCGTGTTCCTGCTATCGCCCGCTCTG
746068882	420432	NM_014804.2(KIAA0753):c.970C>T (p.Arg324Ter)	KIAA0753	Jun 21, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Jeune thoracic dystrophy;Joubert syndrome	inherited	17	6623016	TTACAGATGTTTGTCACTCAGTTTACTGACCGAGGGGAGCATCCACTTCCTGCTCGGTGTA
1057517697	359182	NM_181783.3(TMTC3):c.2617C>T (p.Gln873Ter)	TMTC3	Dec 17, 2016	MedGen:C4310646,OMIM:617255	Lissencephaly 8	germline	12	88195521	GATAATAAAAGTCAGTCTAAATCCAACAAACAATTAGGAAAAAATGGAGACGAAGAGACAC
386134222	36759	NM_003060.3(SLC22A5):c.1409C>T (p.Ser470Phe)	SLC22A5	Jun 19, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline	5	132392574	ACATGGGTGTGGGAGTCAGCTCCACAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTT
137852717	76636	NM_024757.4(EHMT1):c.1810C>T (p.Gln604Ter)	EHMT1	Oct 05, 2010	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Chromosome 9q deletion syndrome	not provided	9	137776636	TCCCATTTTTAGGGTAATTTTATGGAGTGTCAGCCCGAGAGCAGCATCTCTCACCGTTTCC
369776766	455904	NM_000426.3(LAMA2):c.4876C>T (p.Gln1626Ter)	LAMA2	Mar 26, 2017	MedGen:CN117977	Laminin alpha 2-related dystrophy	germline	6	129369907	TGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGG
886039789	260550	NM_012343.3(NNT):c.385C>T (p.Arg129Ter)	NNT	Oct 11, 2016	MedGen:C3553587,OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	germline	5	43615851	TAATCTGTGACTTGATTTTTTCCCCAGGTGCGAGCCCCTATGGTTAATCCAACATTAGGTG
119103274	17285	NM_000433.3(NCF2):c.383C>T (p.Ala128Val)	NCF2	Nov 01, 1999	MedGen:C1856245,OMIM:233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	germline	1	183574605	CTGTACTTTTCTAGGTGTTATATAACATTGCTTTCATGTATGCCAAGAAGGAGGAATGGAA
886039327	260076	NM_014985.3(CEP152):c.2038C>T (p.Gln680Ter)	CEP152	Mar 30, 2015	MedGen:CN517202	not provided	germline	15	48767444	TCTGTTTCCAGGTGTGAAAGGACTTATCAGCAGCACCATGAAGCCATGAAAACTCAAATAC
28937906	19234	NM_018972.2(GDAP1):c.844C>T (p.Arg282Cys)	GDAP1	Jan 11, 2016	MedGen:C1842197,OMIM:608340,Orphanet:ORPHA217055;MedGen:CN517202	Charcot-Marie-Tooth disease, recessive intermediate A;not provided	germline	8	74364134	AAGCGACCAAACTTGGAAACCTATTACGAGCGTGTCTTGAAGAGAAAAACATTTAACAAGG
875989892	228123	NM_000527.4(LDLR):c.251C>T (p.Pro84Leu)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102724	GCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGA
121908288	16762	NM_014845.5(FIG4):c.547C>T (p.Arg183Ter)	FIG4	Jun 17, 2015	MedGen:C2675491,OMIM:612577;MedGen:C1970011,OMIM:611228,Orphanet:ORPHA139515;MedGen:CN517202	Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease, type 4J;not provided	germline	6	109735199	CACTCACTTCAATATAATCTCACTGTCTTGCGAATGCCCCTGGAGATGTTAAAGTCAGAAA
749472361	186875	NM_000053.3(ATP7B):c.3895C>T (p.Leu1299Phe)	ATP7B	Jul 27, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51937484	GATGTGGCCATCGAGGCAGCCGACGTCGTCCTTATCAGAGTGAGCGTGGCTGCAGCCAGGC
863225021	213811	NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp)	DYSF	May 23, 2017	MedGen:C2931687,Orphanet:ORPHA207073;MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Dysferlinopathy;Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71665181	TTGCTCCTCAGCTCTGGACCGAACCAGTGGCGGGACCAGCTCCGCCCCTCCCAGCTCCTCC
122462165	26472	NM_003413.3(ZIC3):c.968C>T (p.Thr323Met)	ZIC3	Nov 01, 1997	MedGen:C1844020,OMIM:306955	Heterotaxy, visceral, X-linked	germline	X	137567659	ACAAACTGGTCAACCACATCCGAGTGCACACGGGCGAGAAGCCCTTCCCATGCCCCTTCCC
-1	454389	NM_000038.5(APC):c.3184C>T (p.Gln1062Ter)	APC	May 25, 2017	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112838778	CCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAA
879255516	94227	NM_006565.3(CTCF):c.1699C>T (p.Arg567Trp)	CTCF	Apr 01, 2016	MedGen:C3809686,OMIM:615502,Orphanet:ORPHA363611;MedGen:CN517202	Mental retardation, autosomal dominant 21;not provided	germline	16	67628550	TGTTCTAAGTGTGGGAAAACATTTACACGTCGGGTAAGGGTCAGAACTTCACTTTGCCTGT
137852237	25623	NM_000133.3(F9):c.571C>T (p.Arg191Cys)	F9	Aug 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139551112	GTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACT
104894319	22616	NM_003356.3(UCP3):c.427C>T (p.Arg143Ter)	UCP3	Oct 01, 1998	MedGen:C4016768	Obesity, severe, and type II diabetes	germline	11	74005844	TGTGCCCAGCCCACAGATGTGGTGAAGGTCCGATTTCAGGCCAGCATACACCTCGGGCCAT
886043606	271491	NM_000214.2(JAG1):c.439C>T (p.Gln147Ter)	JAG1	May 16, 2017	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10663963	GAGGCGTGGGATTCCAGTAATGACACCGTTCGTAAGTATCGCTTCTGTGGACTTTTCTCTA
730880503	49211	NM_002755.3(MAP2K1):c.355C>T (p.His119Tyr)	MAP2K1	Feb 03, 2017	MedGen:CN517202	not provided	germline	15	66436809	AACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCT
45517179	27435	NM_000548.4(TSC2):c.1513C>T (p.Arg505Ter)	TSC2	Sep 21, 2016	MedGen:C0751674,OMIM:606690,Orphanet:ORPHA538,SNOMED CT:73017001;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2064341	CACATCCCCGAGGATAAAGACCACCAGGTCCGAAAGCTGGCCACCCAGTTGCTGGTGGACC
267607011	36304	NM_020630.4(RET):c.2711C>T (p.Ser904Phe)	RET	Dec 04, 2012	MedGen:CN076152	MEN2 phenotype: Unclassified	not provided	10	43120184	GCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCC
80358790	66568	NM_000059.3(BRCA2):c.5656C>T (p.Gln1886Ter)	BRCA2	Dec 19, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32340011	GAAAACAACGAGAATAAATCAAAAATTTGCCAAACGAAAATTATGGCAGGTTGTTACGAGG
587777189	106822	NM_005017.3(PCYT1A):c.296C>T (p.Ala99Val)	PCYT1A	Jan 02, 2014	MedGen:C1837073,OMIM:608940,Orphanet:ORPHA85167	Spondylometaphyseal dysplasia with cone-rod dystrophy	germline	3	196248245	ACTCTGGTCACGCCCGAGCTCTGATGCAAGCGAAGAACCTTTTCCCTAATACGTACCTCAT
121909202	22982	NM_000503.5(EYA1):c.1081C>T (p.Arg361Ter)	EYA1	Jun 29, 2017	MedGen:C1865143,OMIM:602588;MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Branchiootic syndrome;Melnick-Fraser syndrome	germline	8	71244662	GATCCACCCACTTCAGTTTCCCTTGGACTGCGAATGGAAGAAATGATTTTCAACTTGGCAG
1057519630	362597	NM_001199107.1(TBC1D24):c.404C>T (p.Pro135Leu)	TBC1D24	Jan 10, 2017	MedGen:CN240682;Human Phenotype Ontology:HP:0001300,MedGen:C0242422,Orphanet:ORPHA68402	Autosomal dominant epilepsy;Parkinsonism	germline;maternal;paternal	16	2496552	TCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAG
281864969	47620	NM_024312.4(GNPTAB):c.1000C>T (p.Arg334Ter)	GNPTAB	Feb 14, 2013	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576;MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	I cell disease;Pseudo-Hurler polydystrophy	germline	12	101770519	GAAGATAACGAAGAACTGAGGTACTCATTGCGATCTATCGAGAGGCATGCACCATGGGTTC
879255523	247396	NM_007174.2(CIT):c.412C>T (p.Gln138Ter)	CIT	-	MedGen:C3711387,Orphanet:ORPHA2512	Primary autosomal recessive microcephaly	unknown	12	119857525	ATGAAGAAGAAGGCTTTATTGGCCCAGGAGCAGGTAGGAGGATTTTAACATCATGCTTTTC
121434241	18391	NM_004698.3(PRPF3):c.1481C>T (p.Thr494Met)	PRPF3	Jan 15, 2008	MedGen:C1832378,OMIM:601414	Retinitis pigmentosa 18	germline	1	150344216	TATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGAT
587777087	102938	NM_015662.2(IFT172):c.3907C>T (p.Arg1303Ter)	IFT172	Feb 10, 2014	MedGen:C4017085	Short-rib thoracic dysplasia 10 with polydactyly	germline	2	27453428	AGCCGTGCCGTGGACTGCTACCTCAAAGTGCGAGACTCTGGAAACAGCGGCCTGGCGGAGA
-1	426986	NM_001171.5(ABCC6):c.1901C>T (p.Ala634Val)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16185001	CCGGGAAGGATTGCATCACCATACACAGTGCCACCTTCGCCTGGTCCCAGGAAAGCCCTCC
142441643	152315	NM_004168.3(SDHA):c.91C>T (p.Arg31Ter)	SDHA	Nov 09, 2017	MedGen:C1858592,OMIM:604287,Orphanet:ORPHA139411;MedGen:C0027672,SNOMED CT:699346009;MedGen:C3279992,OMIM:614165;MedGen:CN517202	Carney triad;Hereditary cancer-predisposing syndrome;Paragangliomas 5;not provided	germline;unknown	5	223509	CAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACA
113993970	22527	NM_002775.4(HTRA1):c.904C>T (p.Arg302Ter)	HTRA1	Sep 11, 2014	MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	germline	10	122506817	GTCACCACCGGGATCGTGAGCACCACCCAGCGAGGCGGCAAAGAGCTGGGGCTCCGCAACT
80358494	65925	NM_000059.3(BRCA2):c.2224C>T (p.Gln742Ter)	BRCA2	Jan 03, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32336579	GAGGTCTTGGCTGCAGCATGTCACCCAGTACAACATTCAAAAGTGGAATACAGTGATACTG
1057520110	363906	NM_001972.3(ELANE):c.170C>T (p.Ala57Val)	ELANE	Dec 02, 2016	MedGen:CN517202	not provided	germline	19	852978	TGCAGCTGCGCGGAGGCCACTTCTGCGGCGCCACCCTGATTGCGCCCAACTTCGTCATGTC
-1	474773	NM_002485.4(NBN):c.1171C>T (p.Gln391Ter)	NBN	Mar 20, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	8	89955509	CCAAAAGAAATCAAAGTCTCCAAAATGGAACAAAAATTCAGAATGCTTTCACAAGATGCAC
762739726	450717	NM_025216.2(WNT10A):c.382C>T (p.Arg128Ter)	WNT10A	Aug 17, 2017	MedGen:C0796093,OMIM:257980,Orphanet:ORPHA2721;MedGen:C1835492,OMIM:150400	Odontoonychodermal dysplasia;Tooth agenesis, selective, 4	germline	2	218889989	ATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAG
74315402	28435	NM_000311.4(PRNP):c.350C>T (p.Ala117Val)	PRNP	Dec 18, 2008	MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C0017495,OMIM:137440,Orphanet:ORPHA356,SNOMED CT:67155006	Genetic prion diseases;Gerstmann-Straussler-Scheinker syndrome	germline	20	4699570	CCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGG
199476090	23252	NM_000264.3(PTCH1):c.1081C>T (p.Gln361Ter)	PTCH1	Apr 07, 2017	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	germline	9	95479134	CTTGGACTGTGCTGCAGCGCCCATGCCCTGCAGACCATGTTCCAGTTAATGACTCCCAAGC
74767530	22176	NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202	Cystic fibrosis;not provided	germline;unknown	7	117627537	TTATTTTTATTTCAGATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTGACATGCCAACAG
28933407	27613	NM_002467.5(MYC):c.214C>T (p.Pro72Ser)	MYC	Sep 01, 1993	Human Phenotype Ontology:HP:0030080,MedGen:C0006413,OMIM:113970,Orphanet:ORPHA543,SNOMED CT:77381001	Burkitt lymphoma	germline	8	127738431	GAGGATATCTGGAAGAAATTCGAGCTGCTGCCCACCCCGCCCCTGTCCCCTAGCCGCCGCT
778740017	214391	NM_001863.4(COX6B1):c.58C>T (p.Arg20Cys)	COX6B1	Feb 01, 2015	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	19	35651301	AAGAACTACAAGACCGCCCCTTTTGACAGCCGCTTCCCCAACCAGAACCAGACTAGAAACT
747081862	443476	NM_000094.3(COL7A1):c.5869C>T (p.Arg1957Trp)	COL7A1	Jul 20, 2017	MedGen:CN517202	not provided	germline	3	48575736	CCTCTTGCTGTCCCTCAGGCATCTGCCCTGCGGGAGATCGTGGAGACCTGGGATGAGAGCT
267607147	33470	NM_021625.4(TRPV4):c.2395C>T (p.Pro799Ser)	TRPV4	Apr 02, 2014	MedGen:C0265281,OMIM:156530,Orphanet:ORPHA2635,SNOMED CT:22764001;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Metatrophic dysplasia;Skeletal dysplasia	germline	12	109784379	AACCAGAACTTGGGCATCATCAACGAGGACCCGGGCAAGAATGAGACCTACCAGTATTATG
63749950	95864	NM_000249.3(MLH1):c.842C>T (p.Ala281Val)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37017557	CCTTGAGAAAAGCCATAGAAACAGTGTATGCAGCCTATTTGCCCAAAAACACACACCCATT
121907918	18509	NM_000280.4(PAX6):c.382C>T (p.Arg128Cys)	PAX6	Jun 01, 1996	MedGen:C1850992,OMIM:136520	Foveal hypoplasia and presenile cataract syndrome	germline	11	31800832	TTGCAGGTGTCATCAATAAACAGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGG
121907906	18536	NM_024426.4(WT1):c.1288C>T (p.Arg430Ter)	WT1	Dec 15, 1996	MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009;MedGen:CN033288,OMIM:194070	Drash syndrome;Wilms tumor 1	germline	11	32392717	CCATACCAGTGTGACTTCAAGGACTGTGAACGAAGGTTTTCTCGTTCAGACCAGCTCAAAA
121908013	18790	NM_000375.2(UROS):c.158C>T (p.Pro53Leu)	UROS	May 01, 1990	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125815120	TATTGCTTTTTGGTGTGCAGCTTTCTCATCCTGAAGATTACGGGGGACTCATTTTTACCAG
199801224	378630	NM_152906.6(TANGO2):c.94C>T (p.Arg32Ter)	TANGO2	Jan 03, 2017	MedGen:CN517202	not provided	germline	22	20043392	TTGGCAGCCAACAGGGATGAATTCTACAGCCGACCCTCCAAGTTAGCTGACTTCTGGGGGA
199422233	25000	NM_002641.3(PIGA):c.163C>T (p.Gln55Ter)	PIGA	Dec 15, 1995	MedGen:C3806670,OMIM:300818	Paroxysmal nocturnal hemoglobinuria 1	somatic	X	15331768	AATATGGGAGGCGTGGAAAGCCACATTTACCAGCTCTCTCAGTGCCTGATTGAAAGAGGGC
387906787	39095	NM_001142784.2(IL11RA):c.475C>T (p.Gln159Ter)	IL11RA	Jul 15, 2011	MedGen:C3280073,OMIM:614188,Orphanet:ORPHA284149	Craniosynostosis and dental anomalies	germline	9	34657331	AGGAAGAAGACAGTCCTAGGAGCTGATAGCCAGAGGTAGGACGTGAGGGAGCATGTGGGGG
267606787	31577	NM_000129.3(F13A1):c.2110C>T (p.Arg704Trp)	F13A1	Jun 01, 2009	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6145708	GAAGTGTGCCGGCCCTGGGTCTCTGGGCATCGGAAGCTGATAGCCAGCATGAGCAGTGACT
137854495	24528	NM_005502.3(ABCA1):c.2810C>T (p.Ala937Val)	ABCA1	Aug 01, 1999	MedGen:C0039292,OMIM:205400,Orphanet:ORPHA31150	Tangier disease	germline	9	104822514	AGATCACCTCCTTCCTGGGCCACAATGGAGCGGGGAAGACGACCACCATGTAAGAAGAGGG
137854572	15845	NM_000038.5(APC):c.1621C>T (p.Gln541Ter)	APC	May 24, 2017	MedGen:C2673218;MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Brain tumor-polyposis syndrome 2;Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112828001	GCCCAACTAAAATCTGAAAGTGAAGACTTACAGCAGGTACTATTTAGAATTTCACCTGTTT
878853149	237503	NM_001083962.1(TCF4):c.520C>T (p.Arg174Ter)	TCF4	Jul 25, 2014	Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Intellectual disability	de novo	18	55350388	TTTCTTTCAGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAG
121913590	29214	NM_000530.7(MPZ):c.292C>T (p.Arg98Cys)	MPZ	Apr 04, 2017	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009;MedGen:CN517202	Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I;not provided	germline	1	161306864	TACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGA
28942100	18204	NM_000187.3(HGD):c.688C>T (p.Pro230Ser)	HGD	Jun 14, 2016	MedGen:C0002066,OMIM:203500,Orphanet:ORPHA56	Alkaptonuria	germline;unknown	3	120644405	GGCTTGGCCAATCCTCGTGATTTCTTGATACCCATTGCCTGGTATGAGGATCGCCAAGTAC
80356984	68966	NM_007294.3(BRCA1):c.1576C>T (p.Gln526Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43093955	GATTTTATCAAGAAAGCAGATTTGGCAGTTCAAAAGACTCCTGAAATGATAAATCAGGGAA
267607171	15153	NM_022067.3(VIPAS39):c.871C>T (p.Gln291Ter)	VIPAS39	Apr 01, 2010	MedGen:C3150672,OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	germline	14	77435885	CCATTTTCAGCAGAAGATTCCGCACACATACAGGACCATTACACGCTCCTGGAACGTCAGA
727503444	176115	NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)	STRC	Nov 17, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	15	43608091	CACATGATCTATCAGCTGCCCACTAGAGTTCGAGGGAGCCTGGTGAGAGGGGGTGCCTGGA
200956636	429705	NM_004580.4(RAB27A):c.550C>T (p.Arg184Ter)	RAB27A	Jun 27, 2016	MedGen:C1868679,OMIM:607624,Orphanet:ORPHA79477	Griscelli syndrome type 2	germline	15	55205623	ATTGAGATGCTTCTGGACCTGATAATGAAGCGAATGGAACGGTGTGTGGACAAGTCCTGGA
-1	481349	NM_020920.3(CHD8):c.3541C>T (p.Arg1181Ter)	CHD8	Sep 08, 2017	MedGen:C3554373,OMIM:615032	Autism, susceptibility to, 18	de novo	14	21400605	TAATATAGTTTTCTGTTTTTTAGTTGGGGACGATGGCGAGATATTTTATCTCATGGACGCT
796065312	204578	NM_000240.3(MAOA):c.133C>T (p.Arg45Trp)	MAOA	Nov 10, 2014	MedGen:C0796275,OMIM:300615,Orphanet:ORPHA3057	Monoamine oxidase A deficiency	maternal	X	43683572	TATGGCGTTAGTGTTTTGGTTTTAGAAGCTCGGGACAGGGTTGGAGGAAGAACATATACTA
-1	430995	NM_015634.3(KIF1BP):c.976C>T (p.Gln326Ter)	KIF1BP	Jun 07, 2017	MedGen:C1836123,OMIM:609460,Orphanet:ORPHA66629	Goldberg-Shprintzen megacolon syndrome	inherited	10	69011001	AAATACTGTTTGACTCTCATGCAGAATGCCCAACTCTCCATGCAGGTAATGCAGTCAGAAG
557671802	167502	NM_024537.3(CARS2):c.752C>T (p.Pro251Leu)	CARS2	Mar 18, 2015	MedGen:CN221139;MedGen:C4225251,OMIM:616672,Orphanet:ORPHA477774	Alpers encephalopathy;Combined oxidative phosphorylation deficiency 27	germline	13	110677007	TCTGGGCCTCTCCCTGGGGACCCGGGAGGCCGGGCTGGCACATCGAGTGCTCTGCCATCGC
786205006	187406	NM_005249.4(FOXG1):c.610C>T (p.Leu204Phe)	FOXG1	Jun 08, 2016	MedGen:CN517202	not provided	germline;unknown	14	28767889	ATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACGGCATCTACGAGTTCATCATGAAGA
121909382	23630	NM_000339.2(SLC12A3):c.1763C>T (p.Ala588Val)	SLC12A3	Jan 01, 1996	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	germline	16	56884142	TGGTCATCATGTTCCTCCTCACCTGGTGGGCGGCCCTCATCGCCATTGGCGTGGTGCTCTT
104894595	16605	NM_000263.3(NAGLU):c.1562C>T (p.Pro521Leu)	NAGLU	Jan 01, 1999	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	germline	17	42543568	GCCACAATCGTAGCCCGCTGGTCAGGCGGCCGTCCCTACAGATGAATACCAGCATCTGGTA
587781786	151201	NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter)	BRIP1	Mar 07, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	61849173	TCCATATACAGAGATGAAAATGATGATTTTCAAGTAGAGAAGAAAAGAATTCGACCCTTAG
797044526	200405	NM_001396.3(DYRK1A):c.883C>T (p.Leu295Phe)	DYRK1A	Feb 12, 2016	MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;MedGen:CN517202	Mental retardation, autosomal dominant 7;not provided	de novo;germline	21	37490393	CACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGA
1060500733	403329	NM_005359.5(SMAD4):c.1096C>T (p.Gln366Ter)	SMAD4	Jun 25, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome	germline	18	51065563	CCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCA
397509330	70405	NM_007294.3(BRCA1):c.850C>T (p.Gln284Ter)	BRCA1	May 24, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	germline	17	43094681	TGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTA
879255645	247555	NM_018052.4(VAC14):c.1748C>T (p.Ser583Leu)	VAC14	Jul 28, 2016	MedGen:C4310743,OMIM:617054	Striatonigral degeneration, childhood-onset	germline	16	70698725	TGCTGCGGGAGGAGGACCTCAAGTTCGCCTCGACCATGGTCCACGCCCTCAACACCATCCT
1060501627	397926	NM_000051.3(ATM):c.4906C>T (p.Gln1636Ter)	ATM	Mar 20, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108295056	GATCAGATGGTGGACATTATGAGAGCTTCTCAGGGTGCTAATTTTAAATGACATGGGCTAT
193922735	362586	NM_032387.4(WNK4):c.1682C>T (p.Pro561Leu)	WNK4	Feb 16, 2017	MedGen:C1840390,OMIM:614491,Orphanet:ORPHA88939	Pseudohypoaldosteronism type 2B	germline	17	42787483	CCAGTGTCTTCCCCCCTGAGCCTGAGGAGCCAGAGGCAGACCAGCACCAGCCCTTCCTTTT
886041936	265061	NM_018486.2(HDAC8):c.496C>T (p.Arg166Ter)	HDAC8	Aug 23, 2016	Human Phenotype Ontology:HP:0001999,MedGen:C0424503;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001511,MedGen:C1386048;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0002209,MedGen:C1857042;MedGen:CN517202	Abnormal facial shape;Delayed speech and language development;Global developmental delay;Intrauterine growth retardation;Microcephaly;Sparse scalp hair;not provided	germline;unknown	X	72495210	AATGATGCTGTCCTGGGAATATTACGATTGCGACGGAAATTTGAGCGTATTCTCTACGTGG
767568897	187695	NM_015929.3(LIPT1):c.212C>T (p.Ser71Phe)	LIPT1	Apr 01, 2014	MedGen:C4225379,OMIM:616299,Orphanet:ORPHA401862	Lipoyltransferase 1 deficiency	germline	2	99162169	CAATTCTATTCTTTTGGCAGAATTCTCCCTCTGTTGTAATTGGTAGGCATCAAAATCCTTG
137852761	23823	NM_005591.3(MRE11):c.1714C>T (p.Arg572Ter)	MRE11	May 26, 2017	MedGen:C1858391,OMIM:604391,Orphanet:ORPHA251347;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome	germline	11	94447288	ATCTCAGCAGCAACCAACAAAGGAAGAGGCCGAGGAAGAGGTCGAAGAGGTGGAAGAGGGC
-1	484017	NM_000535.6(PMS2):c.73C>T (p.Gln25Ter)	PMS2	Jun 14, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	6005982	ATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTC
104895506	16625	NM_001127255.1(NLRP7):c.2077C>T (p.Arg693Trp)	NLRP7	Jun 14, 2016	MedGen:C2931618,OMIM:231090,Orphanet:ORPHA254685	Hydatidiform mole	germline	19	54938096	AAACAAAGCTTCCTGAGTGACTCTTCTGTGCGGATTCTTTGTGACCACGTAACCCGTAGCA
772808534	431610	NM_206933.2(USH2A):c.100C>T (p.Arg34Ter)	USH2A	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	1	216422237	TATTTTGCTTCAATATCCTTGACTGAGTCACGAGGTCTTTTCCCAAGGCTGGAGAACGTGG
63751412	96040	NM_000251.2(MSH2):c.1204C>T (p.Gln402Ter)	MSH2	Apr 04, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47429869	AAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAA
-1	443650	NM_000038.5(APC):c.4585C>T (p.Gln1529Ter)	APC	Aug 14, 2017	MedGen:CN517202	not provided	germline	5	112840179	GATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAAT
796052234	204057	NM_001193416.2(DDX3X):c.1462C>T (p.Arg488Cys)	DDX3X	Feb 22, 2017	MedGen:CN517202	not provided	germline	X	41346375	AGGGATAGAGAAGAGGCCCTTCACCAGTTCCGCTCAGGAAAAAGCCCAATTTTAGTGGCTA
1060503383	395696	NM_006772.2(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1	Jun 05, 2017	MedGen:C2675473,OMIM:612621;MedGen:CN517202	Mental retardation, autosomal dominant 5;not provided	germline	6	33441318	AGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCT
80356782	76562	NM_001876.3(CPT1A):c.478C>T (p.Arg160Ter)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	not provided	11	68804077	CTTCAGGGTATGGTCAAGATCTTTTCAGGCCGAAAACCCATGTTGTACAGCTTCCAGACAT
137853200	28298	NM_004431.4(EPHA2):c.2819C>T (p.Thr940Ile)	EPHA2	May 01, 2009	Gene:10306,MedGen:C1861825,OMIM:116600	Cataract 6, multiple types	germline	1	16129440	ACACTGCCATCGAGAAGGTGGTGCAGATGACCAACGAGTAAGTCAGGCCCCTTTCCGTCCC
151206295	207921	NM_000372.4(TYR):c.1064C>T (p.Ala355Val)	TYR	Apr 17, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008	Tyrosinase-negative oculocutaneous albinism	germline;maternal	11	89227850	CAGGATTTGCTAGTCCACTTACTGGGATAGCGGATGCCTCTCAAAGCAGCATGCACAATGC
121918138	15776	NM_203395.2(IYD):c.301C>T (p.Arg101Trp)	IYD	Apr 24, 2008	MedGen:C0342195,OMIM:274800,SNOMED CT:17885001	Iodotyrosine deiodination defect	germline	6	150389474	CAGGAATTTTATGAACTTCTCAATAAGAGACGGTCAGTCAGGTTCATAAGTAATGAGCAAG
137852668	24154	NM_002180.2(IGHMBP2):c.121C>T (p.Gln41Ter)	IGHMBP2	Sep 01, 2001	MedGen:C0043116,OMIM:253300,Orphanet:ORPHA83330,SNOMED CT:64383006	Werdnig-Hoffmann disease	germline	11	68906103	TGGCAGGAGAACATCTCTCTGAAAGAGCTCCAGAGCCGAGGCGTGTGTTTGCTGAAGCTGC
1060501276	391184	NM_031844.2(HNRNPU):c.307C>T (p.Gln103Ter)	HNRNPU	Apr 15, 2017	-	-	germline	1	244864001	GAGGAAGGAATCTCCGCTCTGGACGGCGACCAGATGGAGCTAGGAGAGGAGAACGGGGCCG
863225001	213862	NM_004006.2(DMD):c.5131C>T (p.Gln1711Ter)	DMD	Jan 17, 2014	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32364605	CTTTTGGATGAATCAGAGAAAAAGAAACCCCAGCAAAAAGAAGACGTGCTTAAGGTAGCAA
1057517844	359227	NM_206933.2(USH2A):c.12691C>T (p.Gln4231Ter)	USH2A	Feb 05, 2016	MedGen:CN517202	not provided	germline	1	215675220	AATACATTTATGTATAATGACACAGGTTTGCAACCATGGACGCAGTGTGAATATAAAATCT
563390335	228127	NM_000527.4(LDLR):c.304C>T (p.Gln102Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable;unknown	19	11102777	CAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTG
-1	432447	NM_001085458.1(CTNND1):c.1093C>T (p.Gln365Ter)	CTNND1	Sep 20, 2017	MedGen:CN479606,OMIM:617681	BLEPHAROCHEILODONTIC SYNDROME 2	germline	11	57801869	AAAGGAGGGCCTCCACCTCCTAATTGGAGACAGCCAGAGCTGCCAGAGGTGATCGCCATGC
387906747	39014	NM_024408.3(NOTCH2):c.6949C>T (p.Gln2317Ter)	NOTCH2	Mar 06, 2011	MedGen:C0917715,OMIM:102500,SNOMED CT:63122002	Hajdu-Cheney syndrome	germline	1	119915773	TTCCAGCTCATCCCTAAAGGCAGTATTGCCCAACCAGCGGGGGCTCCCCAGCCTCAGTCCA
150382575	211606	NM_021957.3(GYS2):c.574C>T (p.Arg192Ter)	GYS2	Dec 13, 2012	MedGen:CN517202	not provided	germline	12	21574248	TGGCAGGCTGGAATTGGACTGATCCTTTCTCGAGCCAGGAAACTTCCTATTGCCACAATAT
121913459	27663	NM_007313.2(ABL1):c.1001C>T (p.Thr334Ile)	ABL1	Mar 10, 2016	Human Phenotype Ontology:HP:0005506,MeSH:D015464,MedGen:C0023473,OMIM:608232,Orphanet:ORPHA521;MedGen:C4016396;Gene:8009,MedGen:C1855472,OMIM:247640	Chronic myeloid leukemia;Leukemia, Philadelphia chromosome-positive, resistant to imatinib;Lymphoblastic leukemia, acute, with lymphomatous features	germline;somatic	9	130872896	GCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGA
121912545	29901	NM_182894.2(VSX2):c.679C>T (p.Arg227Trp)	VSX2	Sep 01, 2004	MedGen:C1864720,OMIM:610093	Microphthalmia, isolated 2	germline	14	74259701	GCGGAGTATGGGCTCTACGGGGCCATGGTGCGGCACTCCATCCCCCTGCCCGAGTCCATCC
80338907	27240	NM_003383.4(VLDLR):c.769C>T (p.Arg257Ter)	VLDLR	Aug 26, 2008	MedGen:C4016431;MedGen:CN074243,OMIM:224050	Cerebellar ataxia and mental retardation with quadrupedal locomotion 1;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	germline	9	2643480	GGCTCTGGCGAGTGCATCCATAAGAAGTGGCGATGTGATGGGGACCCTGACTGCAAGGATG
606231303	167939	NM_001136191.2(KANK2):c.2009C>T (p.Ala670Val)	KANK2	Jun 01, 2014	MedGen:C4015202,OMIM:616099,Orphanet:ORPHA420686	Palmoplantar keratoderma and woolly hair	germline	19	11174532	TCAACATCGCCGACAGCAACGGCAACACAGCCCTGCACTACTCCGTGTCTCATGCCAACTT
876660631	233901	NM_000051.3(ATM):c.205C>T (p.Gln69Ter)	ATM	Sep 01, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108229197	TTTTCTTGAAGATTTTTACAGAAATATATTCAGAAAGAAACAGAATGTCTGAGAATAGCAA
771578775	214530	NM_020247.4(COQ8A):c.1042C>T (p.Arg348Ter)	COQ8A	Nov 01, 2017	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485;MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485;MedGen:CN517202	Coenzyme Q10 deficiency, primary, 4;Coenzyme Q10 deficiency, primary, 4;not provided	germline	1	226982996	GCCGCATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGA
775141057	361949	NM_018082.5(POLR3B):c.2774C>T (p.Pro925Leu)	POLR3B	Dec 21, 2016	MedGen:C1859301,OMIM:213002,Orphanet:ORPHA85186	Cerebellar hypoplasia with endosteal sclerosis	germline	12	106496115	ACATGCCATTTTGTGATTCTGGCATCTGTCCGGACATCATCATGAACCCACACGGCTTCCC
587776628	21185	NM_003738.4(PTCH2):c.3357+5C>T	PTCH2	Aug 31, 2010	MedGen:C3838465	Basal cell carcinoma, somatic	somatic	1	44823064	TGTCCATCCTGGGCCCGCCGCCAGAGGTGACCACACCCTCGGCACCATCCCTCTACTCCCA
-1	456625	NM_001277115.1(DNAH11):c.13321C>T (p.Gln4441Ter)	DNAH11	Jul 19, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21901024	GTTTTTGCCATAGGCGCCCGCTGGGACACCCAAGCAGGAACCATTGTTGAAGCCCGTCTCA
122454129	26698	NM_004586.2(RPS6KA3):c.1147C>T (p.Arg383Trp)	RPS6KA3	May 01, 1999	MedGen:C0796225,OMIM:300844	Mental retardation, X-linked 19	germline	X	20175244	CCACCTAGTGCTAATGCACATCAGCTTTTTCGGGGGTTTAGTTTTGTTGCTATTACCTCAG
118203935	15948	NM_173483.3(CYP4F22):c.1303C>T (p.His435Tyr)	CYP4F22	Nov 07, 2016	Gene:50992,MedGen:C1858142,OMIM:604777,OMIM:604781;MedGen:CN517202	Autosomal recessive congenital ichthyosis 5;not provided	germline	19	15549170	ATCATCTGCTTGGTCAGCATCTATGGAACCCACCACAACCCCACAGTGTGGCCTGACTCCA
115209243	472238	NM_002642.3(PIGC):c.61C>T (p.Arg21Ter)	PIGC	Dec 21, 2017	MedGen:CN703738,OMIM:617816	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16	germline	1	172442562	GAGGTCAAGTGGCAGAAGGTCTTGTATGAGCGACAGCCCTTTCCTGATAACTATGTGGACC
483352866	136991	NM_001199107.1(TBC1D24):c.533C>T (p.Ser178Leu)	TBC1D24	Dec 22, 2014	MedGen:C3892048,OMIM:616044;MedGen:C2829265,OMIM:614617	Deafness, autosomal dominant 65;Deafness, autosomal recessive 86	germline	16	2496681	TGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAA
121908535	21038	NM_014252.3(SLC25A15):c.815C>T (p.Thr272Ile)	SLC25A15	May 31, 2012	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	germline	13	40809576	TAACGGCCTTATATTCTGGACTGAAACCTACTATGATTCGAGCATTCCCTGCCAATGGAGC
121913611	29195	NM_005373.2(MPL):c.769C>T (p.Arg257Cys)	MPL	Jun 01, 2008	MedGen:C1327915,OMIM:604498,Orphanet:ORPHA3319	Congenital amegakaryocytic thrombocytopenia	germline	1	43340042	CAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTG
886041620	264018	NM_001029882.3(AHDC1):c.1759C>T (p.Arg587Ter)	AHDC1	Feb 10, 2017	MedGen:CN517202	not provided	germline	1	27550357	GCCACCATGGCCATGCCAGAGGTAAAAAAACGACGGCGGCGGAAGCAGAAGCTGGCATCTC
28939702	21615	NM_001171.5(ABCC6):c.4015C>T (p.Arg1339Cys)	ABCC6	Oct 01, 2002	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154899	CCCATTGCCCACGTGGGGCTGCACACACTGCGCTCCAGGATCAGCATCATCCCCCAGGTGA
267608675	49673	NM_007055.3(POLR3A):c.4006C>T (p.Gln1336Ter)	POLR3A	Aug 02, 2012	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	not provided	10	77980159	GACCATCTCTTTGACGCTGCCTACTTCGGGCAGAAGGACTCTGTGTGTGGTAGGTTTGATG
137852947	19151	NM_138694.3(PKHD1):c.8011C>T (p.Arg2671Ter)	PKHD1	Mar 01, 2002	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51847871	TACCCTGACATCCTCCTAAGATGTGGGAGTCGAGTGGGTCTGTCTTTTCCATTTCTTCCAT
63751298	96235	NM_000251.2(MSH2):c.1720C>T (p.Gln574Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47471023	ACCAAAAATAAAACAGAATATGAAGAAGCCCAGGATGCCATTGTTAAAGAAATTGTCAATA
267606899	24743	m.12848C>T	MT-ND5	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	12848	GAGCAGATGCCAACACAGCAGCCATTCAAGCAATCCTATACAACCGTATCGGCGATATCGG
267607136	15797	NM_001160372.3(TRAPPC9):c.1129C>T (p.Arg377Ter)	TRAPPC9	Nov 01, 2011	MedGen:C2750791,OMIM:613192	Mental retardation, autosomal recessive 13	germline	8	140397625	TTTCTTCAGAATGCAGTTTACATTAACCTTCGACAGGTGAGTGTATGTCTACCTGTAAGTG
863224890	213621	NM_003482.3(KMT2D):c.11275C>T (p.Gln3759Ter)	KMT2D	Jun 17, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	de novo	12	49033430	GGACAGGTGGCAATCCAGCAGCAACAGCAGCAGGGTCCTGGAGTACAGACAAACCAAGCTC
-1	430955	NM_003140.2(SRY):c.331C>T (p.Gln111Ter)	SRY	Nov 03, 2015	MedGen:C2748895,OMIM:400045;MedGen:C2748896,OMIM:400044	46,XX sex reversal, type 1;46,XY sex reversal, type 1	germline	Y	2787273	CTTACTGAAGCCGAAAAATGGCCATTCTTCCAGGAGGCACAGAAATTACAGGCCATGCACA
137852955	19672	NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter)	TBX20	Aug 01, 2007	MedGen:C1969657,OMIM:611363	Atrial septal defect 4	germline	7	35245020	GTGCATCCAGATTCTCCTTTTACCGGTGAGCAACTACTCAAACAGATGGTGTCTTTTGAAA
137852635	24306	NM_001038.5(SCNN1A):c.1685C>T (p.Ser562Leu)	SCNN1A	Dec 01, 1999	MedGen:C1449843,OMIM:264350,Orphanet:ORPHA171876	Pseudohypoaldosteronism type 1 autosomal recessive	germline	12	6348198	GCAGCCAGTGGAGCCTGTGGTTCGGCTCCTCGGTGTTGTCTGTGGTGGAGATGGCTGAGCT
886039358	259984	NM_207122.1(EXT2):c.544C>T (p.Arg182Ter)	EXT2	May 19, 2017	MedGen:CN517202	not provided	germline	11	44109201	CTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGT
886041157	264232	NM_031443.3(CCM2):c.214C>T (p.Gln72Ter)	CCM2	Nov 18, 2015	MedGen:CN517202	not provided	germline	7	45063927	TTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATC
121918301	18644	NM_024757.4(EHMT1):c.3502C>T (p.Arg1168Ter)	EHMT1	Oct 05, 2010	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Chromosome 9q deletion syndrome	germline	9	137818100	GAGCTGATTTCAGACTCAGAAGCCGACGTTCGAGAGGAAGATTCTTACCTCTTTGATCTCG
786201912	181843	NM_000465.3(BARD1):c.298C>T (p.Gln100Ter)	BARD1	Sep 29, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009	Familial cancer of breast;Hereditary cancer-predisposing syndrome	germline	2	214792363	GCCTGGATACAAGACTTGAAGATAAATAGACAACTGGACAGCATGATTCAACTTTGTAGTA
587777289	132047	NM_173849.2(GSC):c.400C>T (p.Gln134Ter)	GSC	Dec 05, 2013	MedGen:C1865361,OMIM:602471,Orphanet:ORPHA397623	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	germline	14	94769173	GGTTCGGTGCTGGTGTCCCCGGTACCGCACCAGATGCTGCCCTACATGAACGTGGGCACGC
397515582	76684	NM_194248.2(OTOF):c.1273C>T (p.Arg425Ter)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26483581	CAGTGGGCCCGGTTCTATGTGAAAATTTACCGAGCAGAGGGGCTGCCCCGTATGAACACAA
10065172	39673	NM_001145805.1(IRGM):c.313C>T (p.Leu105=)	IRGM	Jan 13, 2013	Gene:100190926,MedGen:C2677079,OMIM:612278	Inflammatory bowel disease 19	germline	5	150848436	GGGTCTGCCACCACAACCCTGGAGAACTACCTGATGGAAATGCAGTTCAACCGGTATGACT
864621972	204423	NM_004836.6(EIF2AK3):c.1192C>T (p.Gln398Ter)	EIF2AK3	Apr 01, 2015	MedGen:C0432217,OMIM:226980,Orphanet:ORPHA1667,SNOMED CT:254066006	Wolcott-Rallison dysplasia	inherited	2	88588875	TCAGGAATGTATAGAGGCCAGCTGTATCTGCAGTCATCAGTCAGAATTTCAGAAAAGTTTC
113993978	34179	NM_002863.4(PYGL):c.1195C>T (p.Arg399Ter)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	not provided	14	50915869	CCCGTGGACCTGGTGGAGAAGCTGCTCCCTCGACATTTGGAAATCATTTATGAGATAAATC
1060501691	475626	NM_000051.3(ATM):c.2050C>T (p.Gln684Ter)	ATM	Mar 31, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108253965	CACCAGTCCAGTATTGGCTTCTCTGTCCACCAGAATCTCAAGGAATCACTGGATCGCTGTC
267606916	17679	NM_153240.4(NPHP3):c.2104C>T (p.Arg702Ter)	NPHP3	Feb 10, 2016	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006;MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008	Adolescent nephronophthisis;Nephronophthisis	germline	3	132696798	GGTAAACTGGTGCAGGAGAAGAAGCTAGAACGACACTGTCGTTCTGCTACAACCTGCAATG
727503786	481244	NM_000033.3(ABCD1):c.1201C>T (p.Arg401Trp)	ABCD1	Sep 13, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	unknown	X	153736231	CTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCC
-1	464397	NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter)	TGFB3	Jun 27, 2017	MedGen:C3553762,OMIM:614816	Loeys-Dietz syndrome 4	germline	14	75961030	TGCTGTGTGCGCCCCCTCTACATTGACTTCCGACAGGATCTGGGCTGGAAGTGGGTCCATG
952741388	372454	NM_024678.5(NARS2):c.727C>T (p.Arg243Ter)	NARS2	May 08, 2015	MedGen:CN517202	not provided	germline	11	78493158	ACTCAAGTGTTTACCTTTGGTCCGACCTTCCGAGCTGAAAATTCTCAGAGCCGGAGGCACC
121909581	32112	NM_015991.3(C1QA):c.622C>T (p.Gln208Ter)	C1QA	Jul 01, 1997	MedGen:C3150902,OMIM:613652	C1q deficiency	germline	1	22639291	TTCCAGGTGGTGTCAGGGGGCATGGTGCTTCAGCTGCAGCAGGGTGACCAGGTCTGGGTTG
-1	472082	NM_000033.3(ABCD1):c.293C>T (p.Ser98Leu)	ABCD1	Aug 07, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153725559	GCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTC
587779775	132667	NM_001101.4(ACTB):c.446C>T (p.Thr149Ile)	ACTB	Apr 15, 2014	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995	Baraitser-Winter syndrome 1	germline	7	5528637	TGCTATCCCTGTACGCCTCTGGCCGTACCACTGGCATCGTGATGGACTCCGGTGACGGGGT
746979262	481826	NM_004820.4(CYP7B1):c.187C>T (p.Arg63Ter)	CYP7B1	Dec 08, 2017	MedGen:CN517202	not provided	germline	8	64624475	CTTCCTTATCTTGGAGTGGTCCTGAACTTACGAAAAGACCCCTTAAGGTTCATGAAAACAC
120074144	17879	NM_000019.3(ACAT1):c.814C>T (p.Gln272Ter)	ACAT1	Nov 15, 2016	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007;MedGen:CN517202	Deficiency of acetyl-CoA acetyltransferase;not provided	germline	11	108141688	AGCAAAGTTCCAAAGCTGAAGACAGTTTTCCAGAAAGAAAATGGTTAGTGTTAAGAAATGA
794729299	198892	NM_001256850.1(TTN):c.82828C>T (p.Arg27610Ter)	TTN	Aug 07, 2017	MedGen:CN517202	not provided	germline	2	178557511	CCATCTACACCATGGGTCACTAATGTTACTCGAGAAAGCATCACTGTGGGCTGGCATGAAC
886041838	265124	NM_018486.2(HDAC8):c.787C>T (p.Gln263Ter)	HDAC8	Jun 23, 2016	MedGen:CN517202	not provided	germline	X	72464682	CAAGCCTTTAATCCCAAAGCAGTGGTCTTACAGCTGGGAGCTGACACAATAGCTGGGGATC
28940875	18876	NM_000017.3(ACADS):c.1138C>T (p.Arg380Trp)	ACADS	May 16, 2016	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007;MedGen:CN517202	Deficiency of butyryl-CoA dehydrogenase;not provided	germline;unknown	12	120739347	ATGGGCTACGTGACAGAGATGCCGGCAGAGCGGCACTACCGCGACGCCCGCATCACTGAGA
774774648	269605	NM_003119.3(SPG7):c.637C>T (p.Arg213Ter)	SPG7	Dec 14, 2015	MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013	Spastic paraplegia 7	germline	16	89526347	TCTGCCCCCCAGCGGCTAGCCTTGATGTACCGAATGCAGGTTGCAAATATTGACAAGTTTG
746000327	416845	NM_000936.3(PNLIP):c.662C>T (p.Thr221Met)	PNLIP	May 25, 2017	MedGen:C3280527,OMIM:614338,Orphanet:ORPHA309111	Pancreatic lipase deficiency	germline	10	116555268	GCGATGCCAAATTTGTGGATGTAATTCACACGGATGGTGCCCCCATAGTCCCCAATTTGGG
71581941	39394	NM_006446.4(SLCO1B1):c.1738C>T (p.Arg580Ter)	SLCO1B1	Feb 01, 2012	MedGen:C0220991,OMIM:237450,Orphanet:ORPHA3111,SNOMED CT:32891000	Rotor syndrome	germline	12	21222355	CTTGCACTGGGTTTCCACTCAATGGTTATACGAGCACTAGGTATGATGAAAAAAAAAAAAA
1060503188	396674	NM_017780.3(CHD7):c.7312C>T (p.Gln2438Ter)	CHD7	Jun 21, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60856592	CGAGAGTCTCAGGTGGTCTCAGAAAATGGACAAGAAAAAGTTGTAGATTTATCAAAGGCCT
886041571	264597	NM_001197104.1(KMT2A):c.3991C>T (p.Gln1331Ter)	KMT2A	Mar 02, 2016	MedGen:CN517202	not provided	germline	11	118482071	AAAACCACTCCTAGTGAGCCCAAGAAAAAGCAGCCTCCACCACCAGAATCAGGTGAGTGAG
690016537	150299	NM_032822.2(FAM136A):c.226C>T (p.Gln76Ter)	FAM136A	May 09, 2014	MedGen:C0025281,OMIM:156000,SNOMED CT:13445001	Ménière's disease	germline	2	70300842	GCTTTGGTCACCAGTGAGCTGGAGAAGTTCCAGGTGAGAAATATCCTAGACAGAGCACTGT
387907074	39924	NM_032446.2(MEGF10):c.211C>T (p.Arg71Trp)	MEGF10	May 01, 2012	MedGen:CN124737	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	germline	5	127339214	ACTGACATTCTAAACTGGTTTAAATGCACGCGGCACAGGTAATAGAAGCTCAGGCATGTTT
1028186690	424649	NM_020732.3(ARID1B):c.5830C>T (p.Arg1944Ter)	ARID1B	Jan 06, 2017	MedGen:CN029606,OMIM:135900	Coffin-Siris syndrome 1	paternal	6	157206971	ATCGCGCACTGGCAGGACTCGCTGGCTAAGCGATGCATCTGTGTGTCCAATATTGTCCGTA
312262817	49524	NM_003611.2(OFD1):c.247C>T (p.Gln83Ter)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13736613	GCCTCTAACTCTTTAGTGGCAGATCACTTACAAAGATGTGGCTATGAATATTCACTTTCTG
199422251	47538	NM_001363.4(DKC1):c.1151C>T (p.Pro384Leu)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154773245	ACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGTAAGTGGTACTGGGTTGCGTGCCCT
587779780	132732	NM_000038.5(APC):c.1213C>T (p.Arg405Ter)	APC	Jun 19, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112819245	CCTGATGACAAGAGAGGCAGGCGTGAAATCCGAGTCCTTCATCTTTTGGAACAGATACGCG
119466000	18149	NM_133259.3(LRPPRC):c.1061C>T (p.Ala354Val)	LRPPRC	Jan 21, 2003	MedGen:C1857355,OMIM:220111,Orphanet:ORPHA70472	Leigh syndrome, French Canadian type	germline	2	43974244	TTTTAGTCACTGAAAAATTGGAAGATGTAGCGTTGCAAATTTTACTAGCATGCCCCGTATC
398123111	98237	NM_000033.3(ABCD1):c.406C>T (p.Gln136Ter)	ABCD1	Mar 18, 2013	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153725672	GACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCT
28939711	21214	NM_004376.6(COX15):c.649C>T (p.Arg217Trp)	COX15	Apr 01, 2011	MedGen:C3554534,OMIM:615119;MedGen:C1850599	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome due to mitochondrial complex IV deficiency	germline	10	99724057	GAAGAAAAATCAGACTCCCATGACATCCCTCGGGTCAGTCAGTACCGCCTTGCTGCCCACC
758052634	439755	NM_014714.3(IFT140):c.1451C>T (p.Thr484Met)	IFT140	Nov 22, 2017	MedGen:CN638473,OMIM:617781	RETINITIS PIGMENTOSA 80	germline	16	1580832	CTTTCATTTTAGGGACCTTCTTGTGTGAGACGCCTGTGTTAGCAATGCATGAAGAAAACGT
374705585	68614	NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter)	CFTR	May 08, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN169374	Cystic fibrosis;Hereditary pancreatitis;not specified	germline	7	117667091	GCTCTGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTTTAGAGAGCAGCATAAA
886041791	264834	NM_013275.5(ANKRD11):c.2197C>T (p.Arg733Ter)	ANKRD11	Mar 09, 2017	MedGen:C0220687,OMIM:148050,Orphanet:ORPHA2332;MedGen:CN517202	KBG syndrome;not provided	germline;maternal	16	89284345	GACACAAACAAAGACATCAGCAGGTCTTTCCGAGAAGAGAAAGACCGTTCGAATAAAGCAG
587783845	170003	NM_000252.2(MTM1):c.637C>T (p.Leu213Phe)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641377	GTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAGGTCCCGAA
71455367	28772	NM_006249.5(PRB3):c.145C>T (p.Arg49Cys)	PRB3	Oct 01, 1990	na	PRB3S(CYS)	germline	12	11268104	CGACGCCCACAAGGAGGAAACCAGCCCCAACGTACCCCACCTCCTCCAGGAAAGCCAGAAG
121918133	15482	NM_005581.4(BCAM):c.361C>T (p.Arg121Ter)	BCAM	Feb 05, 2018	MedGen:C4017284	BLOOD GROUP--LUTHERAN NULL	germline	19	44812319	GTGCTGGCTGAGGCCCAGGTGGGCGACGAGCGAGACTACGTGTGCGTGGTGAGGGCAGGGG
754392766	186718	NM_138694.3(PKHD1):c.1480C>T (p.Arg494Ter)	PKHD1	Jan 26, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	52058355	ACCACTTACCTACGGGAGAAGCACCAGATCCGAGTCCGAGCCCAGAGGCTTCCAGAAGTAC
119463989	18257	NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter)	POMT2	Oct 30, 2015	MedGen:C3150411,OMIM:613150;MedGen:C3150418,OMIM:613158,Orphanet:ORPHA206559	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	germline	14	77278849	TTGGGCCCAGGGTTGTCCCAGGTCCTGCTTCGAGGAGGCGGCCAGGTCCTGCTCGGCTGGA
774441811	195415	NM_001037633.1(SIL1):c.460C>T (p.Gln154Ter)	SIL1	Oct 21, 2014	MedGen:C0024814,OMIM:248800,Orphanet:ORPHA559,SNOMED CT:80734006	Marinesco-Sjögren syndrome	germline	5	139026986	TCACCTCTTTGCTGCTCTCCTTAGGCAAGGCAGGCTGAGGTAAAGCGGCTCTTCCGCCCCA
387907148	40191	NM_014639.3(TTC37):c.2251C>T (p.Gln751Ter)	TTC37	Jun 01, 2010	MedGen:CN034858,OMIM:222470	Trichohepatoenteric syndrome 1	germline	5	95517186	GGAGTCCTTCTAGGTCAGAAAGAAGGAAAACAAGTATTAAAGAAAAATGAGCTCCTCCACC
397514615	48430	NM_020194.5(MFF):c.190C>T (p.Gln64Ter)	MFF	Dec 01, 2014	MedGen:C4310726,OMIM:617086;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C0162666,SNOMED CT:447292006	Encephalopathy due to defective mitochondrial and peroxisomal fission 2;Global developmental delay;Mitochondrial encephalomyopathy	germline	2	227330777	AAAGTAGCACCGCCAAACGCTGACCTGGAACAAGGATTCCAAGAAGGAGTTCCAAATGCTA
727503931	177045	NM_001110556.1(FLNA):c.7153C>T (p.Gln2385Ter)	FLNA	Mar 10, 2014	MedGen:C0265251,OMIM:311300,Orphanet:ORPHA90650,SNOMED CT:54036001;MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Oto-palato-digital syndrome, type I;Periventricular nodular heterotopia 1	germline	X	154350912	CTGGAGGAGTGCTATGTCACAGAAATTGACCAAGGTGAGGCCCTGTCCCTGCCCGGCCGCC
387906849	39261	NM_004656.3(BAP1):c.799C>T (p.Gln267Ter)	BAP1	Dec 01, 2011	MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539	Tumor susceptibility linked to germline BAP1 mutations	unknown	3	52405897	GGATTCTGTTGTTAGCTGATAAGAGTAACACAGCCAGAGCTGATTCAGACCCACAAGTCTC
121908893	21465	NM_003060.3(SLC22A5):c.760C>T (p.Arg254Ter)	SLC22A5	Apr 17, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202;MedGen:CN169374	Renal carnitine transport defect;not provided;not specified	germline;unknown	5	132385435	ATGGTGCTGCCACTGTTTGCTTACTTCATCCGAGACTGGCGGATGCTGCTGGTGGCGCTGA
796052463	202824	NM_005249.4(FOXG1):c.586C>T (p.Gln196Ter)	FOXG1	Nov 27, 2012	MedGen:CN517202	not provided	germline	14	28767865	TACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCACGCTCAACG
878855234	238147	NM_170707.3(LMNA):c.928C>T (p.Gln310Ter)	LMNA	Mar 11, 2016	MedGen:CN043576	Charcot-Marie-Tooth disease, type 2	germline	1	156135304	GACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTC
1064797038	411021	NM_001429.3(EP300):c.319C>T (p.Gln107Ter)	EP300	Mar 28, 2017	MedGen:CN517202	not provided	germline	22	41117411	GTTGGTGGCCCAGGTCAAGTCATGGCCAGCCAGGCCCAACAGAGCAGTCCTGGATTAGGTT
397516428	52711	NM_000441.1(SLC26A4):c.2188C>T (p.Gln730Ter)	SLC26A4	Dec 06, 2010	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Pendred's syndrome	germline	7	107710152	TTGACGGTCCATGATGCTATACTCTATCTACAGAACCAAGTGAAATCTCAAGAGGGTCAAG
1057524089	378038	NM_000833.4(GRIN2A):c.487C>T (p.Gln163Ter)	GRIN2A	Jan 27, 2017	MedGen:C1832814,OMIM:245570;MedGen:CN517202	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided	germline	16	9938479	CAGCAAGCCACGGTCATGCTGAAGATCATGCAGGATTATGACTGGCATGTCTTCTCCCTGG
886040720	261423	NM_000059.3(BRCA2):c.7615C>T (p.Gln2539Ter)	BRCA2	Nov 22, 2016	MedGen:C2675520,OMIM:612555;MedGen:CN517202	Breast-ovarian cancer, familial 2;not provided	germline	13	32356607	GGCCAAGTTCCCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGC
1064793880	407251	NM_000501.3(ELN):c.631C>T (p.Pro211Ser)	ELN	Aug 10, 2015	MedGen:CN517202	not provided	germline	7	74046755	GGAGTCCCACTGGGGTATCCCATCAAGGCCCCCAAGCTGCCTGGTAAGTCAGAGGGACGGT
61751449	26882	NM_004992.3(MECP2):c.964C>T (p.Pro322Ser)	MECP2	Apr 26, 2016	MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Mental retardation, X-linked, syndromic 13;Rett syndrome	germline;unknown	X	154030864	GTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGA
121918160	15719	NM_000312.3(PROC):c.935C>T (p.Ser312Leu)	PROC	Mar 09, 2017	MedGen:C2674321,OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	germline	2	127428495	TGCTGCACCTGGCCCAGCCCGCCACCCTCTCGCAGACCATAGTGCCCATCTGCCTCCCGGA
369488112	214356	NM_015681.4(B9D1):c.466C>T (p.Arg156Trp)	B9D1	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	17	19343796	GACCCCAAGGTGGTGGCTCAGGGTGAAGGCCGGGAAGGTAAAGCTCCCTCCCCTCTCTTAC
140287375	39763	NM_018418.4(SPATA7):c.253C>T (p.Arg85Ter)	SPATA7	May 09, 2011	MedGen:C1858677,OMIM:604232	Leber congenital amaurosis 3	germline	14	88416725	TTGTTTTCCCTTTTAGATGCAGACCAACAACGAAGAGAGAAACTCAAAAAGGAATTAGCAC
104894526	22748	NM_000303.2(PMM2):c.484C>T (p.Arg162Trp)	PMM2	Dec 31, 2015	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002;MedGen:CN517202	Carbohydrate-deficient glycoprotein syndrome type I;not provided	germline;unknown	16	8811674	AATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGT
730882131	181214	NM_000314.6(PTEN):c.781C>T (p.Gln261Ter)	PTEN	Jun 12, 2015	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	PTEN hamartoma tumor syndrome;not provided	germline	10	87957999	GGTGATATCAAAGTAGAGTTCTTCCACAAACAGAACAAGATGCTAAAAAAGGTTTGTACTT
-1	461534	NM_000051.3(ATM):c.5944C>T (p.Gln1982Ter)	ATM	Apr 16, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108312436	AACAGAAGTCTTGCATTTGAAGAAGGAAGCCAGAGTACAACTATTTCTAGCTTGAGTGAAA
755177846	263789	NM_005993.4(TBCD):c.3365C>T (p.Pro1122Leu)	TBCD	Nov 16, 2016	MedGen:C4310671,OMIM:617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	germline	17	82938132	AGCTGTGTCTGCTCCTCTGCCACCGTTTCCCGCTGGTGAGTGCCTGCCCCTGCTCACGTGT
111033626	25943	NM_002351.4(SH2D1A):c.302C>T (p.Pro101Leu)	SH2D1A	Oct 01, 1998	MedGen:C1868674,OMIM:308240	Lymphoproliferative syndrome 1, X-linked	germline	X	124370276	ATCAAGGCATTGTAATACCTCTGCAGTATCCAGTTGAGAAGAAGTCCTCAGCTAGAAGTAC
587783727	168936	NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter)	KMT2D	Aug 22, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49039611	TCCTCTTCTCTTTTTTTTGCATAGCGCCAGCGACTACGAGAGCTGCTGATTCGGCAGCAGA
202155613	261530	NM_000059.3(BRCA2):c.9106C>T (p.Gln3036Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555;MedGen:CN517202	Breast-ovarian cancer, familial 2;not provided	germline	13	32379902	CAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTA
747386965	427031	NM_001171.5(ABCC6):c.1199C>T (p.Ser400Phe)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16198160	CCCGCCAGGTCCTGGCTCTGTCCAGCGGCTCCAGAAAGGCCAGTGCGGTGGGTGATGTGGT
777112652	236878	NM_033312.2(CDC14A):c.1015C>T (p.Arg339Ter)	CDC14A	Jun 02, 2016	MedGen:C4310777,OMIM:616958	Deafness, autosomal recessive 105	germline	1	100484329	GCATCGTTGTGGGTCCAAGGAGACATTTTCCGATCCAAACTGAAAAATCGACCATCCAGTG
121908429	20370	NM_005135.2(SLC12A6):c.466C>T (p.Arg156Cys)	SLC12A6	Aug 12, 2011	MedGen:C0795950,OMIM:218000,Orphanet:ORPHA1496	Andermann syndrome	germline	15	34257713	CAAAATATTTTTGGAGTGATCCTTTTTTTACGCCTTACATGGGTGGTGGGCACAGCTGGAG
59101996	49661	NM_006158.4(NEFL):c.446C>T (p.Ala149Val)	NEFL	Oct 18, 2012	MedGen:C1843164,OMIM:607734,Orphanet:ORPHA101085;MedGen:CN517202	Charcot-Marie-Tooth disease, demyelinating, type 1f;not provided	not provided	8	24956070	ACGAGCAGGAGATCCGCGACCTGCGCCTGGCGGCGGAAGATGCCACCAACGAGAAGCAGGC
80338651	18853	NM_000081.3(LYST):c.3085C>T (p.Gln1029Ter)	LYST	Feb 16, 2012	MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chediak-Higashi syndrome, childhood type;Chédiak-Higashi syndrome	germline	1	235806051	AATGAAAACCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTAT
121918244	16869	NM_001023570.3(IQCB1):c.1381C>T (p.Arg461Ter)	IQCB1	Jan 16, 2016	MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C1836517,OMIM:609254	Nephronophthisis;Retinal dystrophy;Senior-Loken syndrome 5	germline;unknown	3	121781772	ACTGATGCACGCCGAGTTGAACTGAAGAAACGAGTGGATGACTATGTCAGAAGACATTTGG
-1	473864	NM_000038.5(APC):c.5572C>T (p.Arg1858Ter)	APC	Oct 06, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112841166	CCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTG
776056840	374330	NM_000781.2(CYP11A1):c.358C>T (p.Arg120Ter)	CYP11A1	Mar 30, 2015	MedGen:CN517202	not provided	germline	15	74347967	CTCTTTAAGTCCGAGGGCCCCAACCCAGAACGATTCCTCATCCCGCCCTGGGTCGCCTATC
104894943	26368	NM_001109878.1(TBX22):c.779C>T (p.Thr260Met)	TBX22	Oct 01, 2001	MedGen:C1844831	Cleft palate with ankyloglossia	germline	X	80026849	CCTTTAAAGAAACTGAGTTCACCACAGTAACGGCTTACCAAAACCAACAGGTAAACTTGGT
63751215	426863	NM_001171.5(ABCC6):c.3661C>T (p.Arg1221Cys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16159556	CAGGTGACCCAGACACTGCAGTGGGTTGTTCGCAACTGGACAGACCTAGAGAACAGCATCG
139228801	188307	NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu)	CASQ2	Feb 06, 2017	MedGen:C1631597,Orphanet:ORPHA3286;MedGen:CN517202	Catecholaminergic polymorphic ventricular tachycardia;not provided	germline	1	115705208	ACCCCGATCTGAGCATCCTGTGGATCGACCCGGACGACTTTCCTCTGGTGAGTGGCTCCAG
371443644	107257	NM_000339.2(SLC12A3):c.179C>T (p.Thr60Met)	SLC12A3	Aug 31, 2016	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003;MedGen:CN517202	Familial hypokalemia-hypomagnesemia;not provided	germline	16	56865414	CCTTCTGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAGCACTA
183501729	39396	NM_006446.4(SLCO1B1):c.757C>T (p.Arg253Ter)	SLCO1B1	Feb 01, 2012	MedGen:C0220991,OMIM:237450,Orphanet:ORPHA3111,SNOMED CT:32891000	Rotor syndrome	germline	12	21196975	GGCACTATCAGGATAACTCCTACTGATTCTCGATGGGTTGGAGCTTGGTGGCTTAATTTCC
128621204	26422	NM_000061.2(BTK):c.1684C>T (p.Arg562Trp)	BTK	Aug 31, 2011	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	Agammaglobulinemia, non-Bruton type;X-linked agammaglobulinemia	germline	X	101353936	ACAAGCTCAGTAGGCTCCAAATTTCCAGTCCGGTGGTCCCCACCGGAAGTCCTGATGTATA
1131691311	422035	NM_000138.4(FBN1):c.3757C>T (p.Gln1253Ter)	FBN1	May 05, 2017	MedGen:CN517202	not provided	germline	15	48483899	GAAGATAATCCCAATATCTGTGATGGTGGTCAGTGCACAAATATCCCTGGAGAGTACAGGT
786204763	186785	NM_000155.3(GALT):c.775C>T (p.Arg259Trp)	GALT	Jun 08, 2015	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline;unknown	9	34648849	TGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCC
546693824	359132	NM_176869.2(PPA2):c.500C>T (p.Pro167Leu)	PPA2	Nov 23, 2016	MedGen:C4310664,OMIM:617222	Sudden cardiac failure, infantile	germline	4	105437978	AGAGCACGAACTGCTTTGGAGATAATGATCCTATTGATGTTTGCGAAATAGGCTCAAAGGT
200520583	433182	NM_000296.3(PKD1):c.8905C>T (p.Gln2969Ter)	PKD1	Oct 26, 2016	MedGen:CN169374	not specified	germline	16	2102857	GCTAGCAGGAGGATCCGCCCAGAGTCACTCCAGGGTGCTGACCACCGGCCCTACACCTTCT
398124301	101617	NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter)	OPA1	Apr 17, 2013	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009	Dominant hereditary optic atrophy	germline	3	193658977	GCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATAGTAAGTGGAGAC
121918203	16113	NM_001127897.3(RPGRIP1L):c.2614C>T (p.Gln872Ter)	RPGRIP1L	Sep 20, 2013	MedGen:C1969053,OMIM:611560;MedGen:C1969052,OMIM:611561	Joubert syndrome 7;Meckel syndrome type 5	germline	16	53645694	AGTTTTTATGTTTTTGATGATAGTGATACCCAGGAGAATATTTACATAGGAAAAGTCAATG
961191529	482117	NM_017775.3(TTC19):c.304C>T (p.Arg102Ter)	TTC19	Nov 27, 2017	MedGen:CN517202	not provided	germline	17	16000237	GCCGAGGCAGAGATCATCCAGCTGCTGAAGCGAGCCAAGGTGAGGCGGCTCCGGGCCCTGC
-1	444795	NM_024426.4(WT1):c.1105C>T (p.Arg369Ter)	WT1	Jul 18, 2017	MedGen:CN517202	not provided	germline	11	32396401	CTTCCTCTTACTCTCTGCCTGCAGGATGTGCGACGTGTGCCTGGAGTAGCCCCGACTCTTG
782099475	378457	NM_001111125.2(IQSEC2):c.2507C>T (p.Ala836Val)	IQSEC2	May 03, 2017	MedGen:CN517202	not provided	germline	X	53248189	TGGACTTCTCCTCCATGGATCTGGATGATGCGCTCCGGAAGTTCCAGTCCCATATCCGGGT
730880539	179317	NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter)	MYBPC3	Nov 11, 2013	MedGen:CN517202	not provided	germline	11	47342882	CCCTTGGAGGACCAGCTGGTGATGGTGGGGCAGCGGGTGGAGTTTGAGTGTGAAGTATCGG
121908427	20365	NM_133647.1(SLC12A6):c.3031C>T (p.Arg1011Ter)	SLC12A6	Jun 15, 2017	MedGen:C0795950,OMIM:218000,Orphanet:ORPHA1496	Andermann syndrome	germline;unknown	15	34236719	CTCCGGCACATGCGGCTATCCAAAACAGAGCGAGACAGAGAGGTGAGACATTACTGCATCA
142164373	44264	NM_032634.3(PIGO):c.2869C>T (p.Leu957Phe)	PIGO	Aug 01, 2012	MedGen:C3553637,OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2	germline	9	35090266	CCCTCTCTTGAGGCAGTAGGTTGCCCACTGCTCCTGCTCTGGCCTTTCCTGTGTGAGAGTC
121917888	26709	NM_005333.4(HCCS):c.589C>T (p.Arg197Ter)	HCCS	Aug 18, 2011	MedGen:C0796070,OMIM:309801	Linear skin defects with multiple congenital anomalies 1	germline	X	11120974	GGGAAAGCAAAAGAGTATTCACCAAGGGCACGAATTCGTTCCTGGATGGGGTGAGTGTCAG
281865028	46978	NM_024312.4(GNPTAB):c.2533C>T (p.Gln845Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101764384	CCCCCATCTCTGATTGTTCCACTGGAAAGCCAGATGACAAAAGAAAAGAAAATCACAGGGA
121912866	32394	NM_001844.4(COL2A1):c.2794C>T (p.Arg932Ter)	COL2A1	Jul 12, 2016	MedGen:C2020284,OMIM:108300	Stickler syndrome type 1	germline	12	47978698	CCTTCTGGAAAAGATGGTCCCAAAGGTGCTCGAGGAGACAGCGGCCCCCCTGGCCGAGCTG
797045593	208434	NM_005257.5(GATA6):c.1087C>T (p.Gln363Ter)	GATA6	Oct 29, 2014	MedGen:C1838780,OMIM:600001	Pancreatic agenesis and congenital heart disease	germline	18	22172231	CCCTTCGAGACCCCGGTGCTGCACAGCCTGCAGAGCCGCGCCGGAGCCCCGCTCCCGGTGC
376531637	483112	NM_178170.2(NEK8):c.1043C>T (p.Thr348Met)	NEK8	Feb 14, 2018	MedGen:C3809434,OMIM:615415	Renal-hepatic-pancreatic dysplasia 2	germline	17	28737972	CAGCTGGGCGCACGCAGAAAGCCGGCGTCACGCGCTCTGGGCGTCTCATCCTGTGGGAGGT
80356982	69227	NM_007294.3(BRCA1):c.2410C>T (p.Gln804Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43093121	GCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGAC
587784077	168128	NM_022455.4(NSD1):c.1831C>T (p.Arg611Ter)	NSD1	Sep 16, 2015	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177210230	AAGTGTTCTCGAGAGAAGAATAAACCCCAACGAAGCCTGGTGTGTGGTTCAAAAGTGAAGC
757583846	185963	NM_000312.3(PROC):c.169C>T (p.Arg57Trp)	PROC	Jul 14, 2017	MedGen:C2674321,OMIM:176860;MedGen:CN517202	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;not provided	germline	2	127421381	CTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCG
373941682	361789	NM_022469.3(GREM2):c.38C>T (p.Ala13Val)	GREM2	Dec 29, 2016	MedGen:C4310638,OMIM:617275	Tooth agenesis, selective, 9	germline	1	240493438	GGAAGCTTTCCCTGTCCTTGTTCCTGGTGGCGGTGCTGGTGAAGGTGGCGGAAGCCCGGAA
113249837	51552	NM_000138.4(FBN1):c.5368C>T (p.Arg1790Ter)	FBN1	Jun 08, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48456691	GGAGTGTGTATCAACATGGTTGGCAGCTTCCGATGTGAATGTCCAGTGGGATTCTTCTATA
758745099	443929	NM_032861.3(SERAC1):c.1102C>T (p.Arg368Ter)	SERAC1	Sep 20, 2017	MedGen:CN517202	not provided	germline	6	158120489	CACGCTGCCAGAATCCTGGCAAATCTAGACCGAGAAACTGTGCAAGAAAAATATCAGGATG
606231423	170959	NM_016026.3(RDH11):c.199C>T (p.Arg67Ter)	RDH11	Mar 03, 2015	MedGen:C4015242,OMIM:616108,Orphanet:ORPHA436245	Retinal dystrophy, juvenile cataracts, and short stature syndrome	germline;paternal	14	67692588	TTCTCTTTCATATGTTGGCTGACAGGAGCTCGAGTATATTTAGCTTGCCGGGATGTGGAAA
104894936	26673	NM_006517.4(SLC16A2):c.449C>T (p.Ala150Val)	SLC16A2	Jun 15, 2017	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	germline	X	74521008	TTTTCTCTGCAGCATGGGTCGGAGCCCTCGCGATGGGTATGATCTTCTTCTGTTCTCCCAT
79378857	359583	NM_000094.3(COL7A1):c.4373C>T (p.Pro1458Leu)	COL7A1	Jun 02, 2015	MedGen:CN517202	not provided	germline	3	48583584	GTGACTCTGAGGATGGAGCTCCAGGCCTCCCAGGACAACCTGGGTCTCCGGGTGAGCAGGT
121908440	20591	NM_005708.4(GPC6):c.700C>T (p.Arg234Ter)	GPC6	Jun 01, 2009	MedGen:C1850318,OMIM:258315,Orphanet:ORPHA93329	Omodysplasia 1	germline	13	93830534	GGGCTGACTGTGGGCAGAGAAGTTGCAAACCGAGTTTCCAAGGTAATTGAAAACGTGCTTT
864622269	222374	NM_015915.4(ATL1):c.1483C>T (p.Arg495Trp)	ATL1	Jun 04, 2017	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984;MedGen:CN517202	Spastic paraplegia 3;not provided	germline	14	50628394	CTTATCACCCTGTGCACTTGGGCATATATCCGGTACTCTGGAGAATACCGAGAGCTGGGAG
587783442	168611	NM_017780.3(CHD7):c.4480C>T (p.Arg1494Ter)	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline;unknown	8	60838202	GAAGAAGATATTGATCAGATCCTCCTACGTCGAACCCACACCATTACCATTGAGTCAGAAG
587783805	170071	NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150663523	AAAAACCCCTTCTATACTAAAGAAATCAATCGAGTTTTATATCCAGTTGCCAGTATGCGTC
781496816	186943	NM_000137.2(FAH):c.520C>T (p.Arg174Ter)	FAH	Nov 03, 2016	MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006;MedGen:CN517202	Tyrosinemia type I;not provided	germline;unknown	15	80168116	TCCTCTGTCGTGGTGTCTGGCACCCCAATCCGAAGGCCCATGGGACAGATGAAACCTGATG
398123827	100321	NM_004006.2(DMD):c.10033C>T (p.Arg3345Ter)	DMD	May 22, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;not provided	germline	X	31180423	GACATCTGCCAAAGCTGCTTTTTTTCTGGTCGAGTTGCAAAAGGCCATAAAATGCACTATC
794728196	197754	NM_000138.4(FBN1):c.2671C>T (p.Gln891Ter)	FBN1	Nov 01, 2012	MedGen:CN517202	not provided	germline	15	48495129	GCTGCGTGGGGAAGCCCGTGCACCCTATGCCAAGTTGGTAAGAGAAACCCATGCTGTGGTT
202247820	47481	NM_000532.4(PCCB):c.1495C>T (p.Arg499Ter)	PCCB	May 23, 2017	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136328854	AAGTTTGCCAACCCTTTCCCTGCAGCAGTGCGAGGTAGGGGACTGTGGTGAAGAGGGCAGC
727503483	389230	NM_138691.2(TMC1):c.1532C>T (p.Pro511Leu)	TMC1	Jun 04, 2016	MedGen:C1832978,OMIM:600974	Deafness, autosomal recessive 7	germline	9	72792318	CACCCTTTTTTGTTCACCCTGCAGATGTACCTCGAGGACCTTGCTGGGAAACAATGGTGGG
104894082	21004	NM_006269.1(RP1):c.2029C>T (p.Arg677Ter)	RP1	Mar 23, 2016	MedGen:C0220701,OMIM:180100;MedGen:CN517202	Retinitis pigmentosa 1;not provided	germline	8	54625911	TCTGTTGCCAGCAAAAAGAAGAAAAAATCTCGACAGCAAGCAATAAATTCCAGGTATCAAG
56984562	57210	NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys)	LMNA	Aug 16, 2017	MedGen:CN230736;MedGen:CN043576;MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Cardiovascular phenotype;Charcot-Marie-Tooth disease, type 2;Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;not provided	germline	1	156137666	GTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTG
132630304	26094	NM_000252.2(MTM1):c.205C>T (p.Arg69Cys)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150598660	ATTAAGGGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACGGTAA
864622143	221777	NM_002485.4(NBN):c.1747C>T (p.Gln583Ter)	NBN	Aug 08, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	germline	8	89953342	GAGTTAGAAATTGATGTGAAAGTTCAAAAACAGGAGGAAGATGTCAATGTTAGAAAAAGGC
869312992	226858	NM_000048.3(ASL):c.889C>T (p.Arg297Trp)	ASL	-	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66089146	AAGAAAAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGGGCGGG
104893809	27546	NM_003242.5(TGFBR2):c.1609C>T (p.Arg537Cys)	TGFBR2	May 07, 2017	MedGen:C2674876,OMIM:610168;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Loeys-Dietz syndrome 2;Thoracic aortic aneurysm and aortic dissection;not provided	germline	3	30691504	GCCCGTCTCACAGCCCAGTGTGTGGCAGAACGCTTCAGTGAGCTGGAGCATCTGGACAGGC
794726799	187842	NM_001165963.1(SCN1A):c.1129C>T (p.Arg377Ter)	SCN1A	Jun 07, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166047668	ACCTTCAGTTGGGCTTTTTTGTCCTTGTTTCGACTAATGACTCAGGACTTCTGGGAAAATC
-1	444652	NM_012330.3(KAT6B):c.3349C>T (p.Gln1117Ter)	KAT6B	Jun 28, 2017	MedGen:CN517202	not provided	germline	10	75022208	CAAAGCTCTCCCCCAAGATTGACGAAACCACAGTCAGTTGCCATAAAGAGAAAGGTAGGTG
72653761	427036	NM_001171.5(ABCC6):c.1144C>T (p.Arg382Trp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16202033	TACAGGCTCAAGGTGCTGCAGATGAGGTTGCGGTCGGCCATCACTGGCCTGGTGTACAGAA
28935468	26863	NM_004992.3(MECP2):c.916C>T (p.Arg306Cys)	MECP2	Aug 24, 2017	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004;MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C1968550,OMIM:300055;MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:CN517202	Angelman syndrome;Angelman syndrome;Intellectual disability;Mental retardation, X-linked, syndromic 13;Mental retardation, X-linked, syndromic 13;Rett syndrome;Rett syndrome;not provided	de novo;germline;unknown	X	154030912	GTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGG
63751707	95881	NM_000249.3(MLH1):c.882C>T (p.Leu294=)	MLH1	Nov 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37017597	GCCCAAAAACACACACCCATTCCTGTACCTCAGGTAATGTAGCACCAAACTCCTCAACCAA
746260871	190187	NM_033026.5(PCLO):c.10624C>T (p.Arg3542Ter)	PCLO	Apr 28, 2015	Gene:373073,MedGen:C1842687,OMIM:608027,Orphanet:ORPHA97249	Pontocerebellar hypoplasia type 3	germline	7	82949964	GGAACCATAAGAACACCCTCCATACGGGCACGAGTGGATGCCAAGGTAGAAATAATTAAAC
875989851	227738	NM_013334.3(GMPPB):c.308C>T (p.Pro103Leu)	GMPPB	May 13, 2016	MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	germline	3	49723066	CCCGTGACCTACTCTCTGAGACTGCAGACCCTTTCTTCGTCCTCAACAGTGACGTGATCTG
121909104	22312	NM_005603.5(ATP8B1):c.1367C>T (p.Thr456Met)	ATP8B1	Oct 15, 2004	MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Progressive intrahepatic cholestasis	germline	18	57688361	GGCAGATCCATTATATCTTCTCTGATAAGACGGGGACACTCACACAAAATATCATGACCTT
387906724	38937	NM_032121.5(MAGT1):c.409C>T (p.Arg137Ter)	MAGT1	Apr 05, 2017	MedGen:C3275445,OMIM:300853,Orphanet:ORPHA317476;MedGen:CN517202	Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia;not provided	germline	X	77870885	GAAGAATTCCAGATCCTGGCAAACTCCTGGCGATACTCCAGTGCATTCACCAACAGGATAT
879255270	227656	NM_006015.4(ARID1A):c.5965C>T (p.Arg1989Ter)	ARID1A	Dec 20, 2013	MedGen:C3553247,OMIM:614607	Mental retardation, autosomal dominant 14	somatic	1	26779863	AAGCGCTGCGTCTGTGTGTCCAATACCATTCGAAGCCTGTCATTTGTGCCAGGCAATGACT
886037771	227163	NM_017909.3(RMND1):c.1303C>T (p.Leu435Phe)	RMND1	Dec 22, 2015	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	6	151405734	GCACTCCGCTTGGAGTGGATGATTGTCATCCTCATTACCATAGAGGTAAGATGGAAATGCT
761743852	440766	NM_015560.2(OPA1):c.703C>T (p.Arg235Ter)	OPA1	Oct 21, 2016	MedGen:CN517202	not provided	germline	3	193635442	TTGCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAA
398123903	100430	NM_004006.2(DMD):c.2650C>T (p.Gln884Ter)	DMD	May 03, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;not provided	germline	X	32485072	CAGGATGAAGTCAACCGGCTATCAGATCTTCAACCTCAAATTGAACGATTAAAAATTCAAA
886040237	261638	NM_007294.3(BRCA1):c.4573C>T (p.Gln1525Ter)	BRCA1	Jul 03, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43074433	GGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGG
121913324	363213	NM_000455.4(STK11):c.109C>T (p.Gln37Ter)	STK11	Feb 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:ORPHA2869,SNOMED CT:54411001	Hereditary cancer-predisposing syndrome;Neoplasm;Peutz-Jeghers syndrome	germline;somatic	19	1207022	CACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCG
-1	440106	NM_018051.4(WDR60):c.2284C>T (p.Arg762Ter)	WDR60	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	maternal	7	158926213	CCAGATGGAATCCTTACCTCAGTAAACCACCGAAGCCCTCTTCAAGCAGTAGAACCTATCT
879254570	245629	NM_000527.4(LDLR):c.544C>T (p.Gln182Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105450	GACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAG
397516127	52044	NM_000257.3(MYH7):c.1987C>T (p.Arg663Cys)	MYH7	Aug 31, 2017	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:C1834481,OMIM:613426;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135;Gene:619511,MedGen:C1850709,OMIM:255160;MedGen:C1842160,OMIM:608358,SNOMED CT:699267007;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;Gene:8090,MedGen:CN074265,OMIM:181430,Orphanet:ORPHA437572;MedGen:CN517202	Congenital myopathy with fiber type disproportion;Dilated cardiomyopathy 1S;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Myopathy, distal, 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Scapuloperoneal myopathy, MYH7-related;not provided	germline;unknown	14	23426834	GAAAATCTGAACAAGCTGATGACCAACTTGCGCTCCACCCATCCCCACTTTGTACGTTGTA
74315392	203782	NM_172107.3(KCNQ2):c.740C>T (p.Ser247Leu)	KCNQ2	Oct 31, 2016	MedGen:CN517202	not provided	germline	20	63442482	ACATCGGCTTCCTTTGTCTCATCCTGGCCTCGTTCCTGGTGTACTTGGCAGAGAAGGGGGA
363807	51563	NM_000138.4(FBN1):c.5863C>T (p.Gln1955Ter)	FBN1	Jul 02, 2013	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48445430	GGCCAATGCATTAATACAGTGGGGTCTTTCCAGTGCCAGTGCAATGAAGGCTATGAGGTGG
375785084	99274	NM_000709.3(BCKDHA):c.659C>T (p.Ala220Val)	BCKDHA	Aug 25, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	19	41422176	CCCTCTCATCCCCTGCAGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAG
387907130	40136	NM_024599.5(RHBDF2):c.566C>T (p.Pro189Leu)	RHBDF2	Sep 01, 2012	MedGen:C1835664,OMIM:148500,Orphanet:ORPHA2198	Howel-Evans syndrome	germline	17	76478999	ACCGCCCCCCTCCCTTCCAGATTGTGGATCCGCTGGCCCGGGGCCGGGCCTTCCGCCACCC
387907078	39946	NM_015338.5(ASXL1):c.2197C>T (p.Gln733Ter)	ASXL1	Jun 26, 2011	MedGen:C0796232,OMIM:605039	C-like syndrome	germline	20	32434909	TCTCTGAGAAAGGAGGAAAGCTGCCTACTACAGAGGGCTACAGTTGGACTCACAGATGGGC
761837416	474329	NM_005732.3(RAD50):c.3592C>T (p.Arg1198Ter)	RAD50	Oct 19, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132638197	ATGCTGAAGGGAGACACAGCCTTGGATATGCGAGGACGATGCAGTGCTGGACAAAAGGCAG
74315348	20408	NM_014625.3(NPHS2):c.871C>T (p.Arg291Trp)	NPHS2	May 05, 2014	MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656	Nephrotic syndrome, idiopathic, steroid-resistant	germline;unknown	1	179552605	GAGGCTGAAGCGCAAAGACAAGCCAAAGTGCGGGTGAGCACTCCATCCTCCCACCCAGACT
121918344	20261	NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86632768	TGAATTTTTTTTCTGGAGTTTTTGTGTTCTCCAGTTTAATTGGTCAGGTAAGCTGAGTATG
587784190	168264	NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter)	NSD1	Feb 21, 2017	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002;MedGen:CN035106,OMIM:117550;MedGen:CN517202	Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided	germline	5	177292044	CGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATG
397507910	66973	NM_000059.3(BRCA2):c.7303C>T (p.Gln2435Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32355156	AATATTAACTTGGAGGAAAACAGACAAAAGCAAAACATTGATGGACATGGCTCTGATGATA
142150953	247572	NM_017947.3(MOCOS):c.1255C>T (p.Arg419Ter)	MOCOS	Jul 27, 2016	MedGen:C1863688,OMIM:603592,Orphanet:ORPHA93602	Xanthinuria type 2	germline	18	36213402	AAAATGGCCAGTCTTTACAACATCCACCTGCGAACTGGCTGCTTCTGTAACACTGGGGCCT
121908102	19305	NM_000784.3(CYP27A1):c.1016C>T (p.Thr339Met)	CYP27A1	May 12, 2017	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000;MedGen:CN517202	Cholestanol storage disease;not provided	germline	2	218813095	TGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGG
72653796	426932	NM_001171.5(ABCC6):c.2432C>T (p.Thr811Met)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16177610	CCTTCCCTGCCCAGACACGGATTCTCGTGACGCACGCACTCCACATCCTGCCCCAGGCTGA
878853036	237129	NM_001130144.2(LTBP3):c.3364C>T (p.Gln1122Ter)	LTBP3	May 11, 2016	MedGen:CN517202	not provided	germline	11	65540034	TGGGTGCCCGGGCCCTCCGGCCGCGATTGCCAGCTCCCCGAGAGCCCGGCCGGTGAGGGCG
875989799	227679	NM_001111125.2(IQSEC2):c.2366C>T (p.Ala789Val)	IQSEC2	May 10, 2016	Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530	Mental retardation, X-linked 1	germline	X	53248814	GCTTCCTGTCAGACACACCGGTGGGAGTGGCTCACTTCATCCTGGAGCGGAAAGGCCTCAG
757011098	244031	NM_033116.5(NEK9):c.1489C>T (p.Arg497Ter)	NEK9	Jul 07, 2016	MedGen:C4310760,OMIM:617022,Orphanet:ORPHA464366	Lethal congenital contracture syndrome 10	germline	14	75106541	TGTGGAGATAATCATGTGGTGGTTCTGACACGAAACAAGGAAGTCTATTCTTGGGGCTGTG
864321704	217254	NM_002052.4(GATA4):c.1263C>T (p.Ser421=)	GATA4	Jul 02, 2015	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11758409	GTCTCCCGTCAGCCAGTCTCCACAGACCAGCTCCAAGCAGGACTCTTGGAACAGCCTGGTC
1060503063	395605	NM_001277115.1(DNAH11):c.10789C>T (p.Gln3597Ter)	DNAH11	Jan 13, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21842641	TTGGCAAATCCTCACTATAAGCCGGAATTACAAGCTCAGACAACTCTCCTCAATTTCACAG
121917709	28859	NM_000168.5(GLI3):c.1927C>T (p.Arg643Ter)	GLI3	Sep 01, 1999	MedGen:C4016298	Postaxial polydactyly, type a1/b	germline	7	41972513	GGCCCAGAGGCTCATGTCACCAAGAAGCAGCGAGGGGACATCCATCCTCGGCCGCCACCCC
776838028	361172	NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter)	BCS1L	Jun 02, 2017	MedGen:C1852372,OMIM:124000;MedGen:CN517202	Mitochondrial complex III deficiency;not provided	germline;paternal	2	218661896	TCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCG
796053355	202290	NM_003165.3(STXBP1):c.568C>T (p.Arg190Trp)	STXBP1	May 31, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 4;not provided	germline	9	127663343	TGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGTAAGGCAGTGCACCAGTCT
104894194	19925	NM_003977.3(AIP):c.40C>T (p.Gln14Ter)	AIP	Sep 26, 2017	MedGen:C1863340,Orphanet:ORPHA314777;MedGen:C0346302,OMIM:102200,Orphanet:ORPHA96256,SNOMED CT:254957009	Pituitary adenoma predisposition;Somatotroph adenoma	germline	11	67483198	ATCATCGCAAGACTCCGGGAGGACGGGATCCAAAAACGTGTGATACAGGAAGGCCGAGGAG
121434546	32655	NM_000070.2(CAPN3):c.257C>T (p.Ser86Phe)	CAPN3	May 01, 1997	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42360062	TGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGCCAGAAGTTCCCCATCCA
386834061	71274	NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter)	VPS13B	Nov 07, 2014	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0001875,MedGen:C0853697;Human Phenotype Ontology:HP:0000529,MedGen:C3277697;Human Phenotype Ontology:HP:0011107,MedGen:C2937365;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;Human Phenotype Ontology:HP:0001773,MedGen:C1848673;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Human Phenotype Ontology:HP:0200055,MedGen:C0575802	Cohen syndrome;Intellectual disability;Microcephaly;Neutropenia;Progressive visual loss;Recurrent aphthous stomatitis;Retinal dystrophy;Short foot;Short stature;Small hand	unknown	8	99868312	ATTCCAGGTGCAATTGCTGGTATAGTTGATCAGCCGATGCAGAACTTCCAGAAAACATCTG
80356669	33969	NM_000207.2(INS):c.265C>T (p.Arg89Cys)	INS	Mar 04, 2015	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	germline	11	2159920	CCCTTGGCCCTGGAGGGGTCCCTGCAGAAGCGTGGCATTGTGGAACAATGCTGTACCAGCA
137852227	25611	NM_000133.3(F9):c.223C>T (p.Arg75Ter)	F9	Jun 05, 2014	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139537144	ATGGAAGAAAAGTGTAGTTTTGAAGAAGCACGAGAAGTTTTTGAAAACACTGAAAGAACAG
786204928	187346	NM_000314.6(PTEN):c.289C>T (p.Gln97Ter)	PTEN	Aug 09, 2016	MedGen:CN517202	not provided	germline	10	87933048	CAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTGTGAAG
886041132	265116	NM_000044.4(AR):c.2566C>T (p.Arg856Cys)	AR	Sep 22, 2015	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:CN517202	Androgen resistance syndrome;not provided	germline	X	67722943	AAAAGAAAAAATCCCACATCCTGCTCAAGACGCTTCTACCAGCTCACCAAGCTCCTGGACT
-1	471000	NM_000166.5(GJB1):c.515C>T (p.Pro172Leu)	GJB1	Apr 24, 2017	MedGen:CN118851	Charcot-Marie-Tooth Neuropathy X	germline	X	71224222	TGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTC
137853098	22691	NM_000538.3(RFXAP):c.163C>T (p.Gln55Ter)	RFXAP	Sep 11, 1997	MedGen:C1859537	Bare Lymphocyte Syndrome, Type II, Complementation Group D	germline	13	36819520	ACCCTGCTAGTGATGCAACCCTGTGCTGGGCAGGACGAGGCTGCGGCCCCCGGGGGCAGCG
771007945	478431	NM_002878.3(RAD51D):c.655C>T (p.Gln219Ter)	RAD51D	Dec 12, 2016	MedGen:C3280345,OMIM:614291;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome	germline;unknown	17	35103466	ACTGCGGTGGTTTCCCCACTTCTGGGAGGTCAGCAGAGGGAAGGTGAGTGATGTGGCAGAG
879254835	246050	NM_000527.4(LDLR):c.1211C>T (p.Thr404Ile)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11113302	CCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCT
863225163	214222	NM_023073.3(CPLANE1):c.2353C>T (p.Arg785Ter)	CPLANE1	May 31, 2016	MedGen:C3553264,OMIM:614615;MedGen:CN517202	Joubert syndrome 17;not provided	germline;unknown	5	37224679	AAAACTTTATGGTATCAAGCACAATTAAATCGAAGAGTTCCTGAAGCTGATAGTCAGTTAA
121434512	16932	NM_015488.4(PNKD):c.20C>T (p.Ala7Val)	PNKD	Apr 01, 2005	MedGen:C1869117,OMIM:118800,Orphanet:ORPHA98810,SNOMED CT:49949003	Paroxysmal choreoathetosis	germline	2	218270555	GGGATCTGAACATGGCGGCGGTGGTAGCTGCTACGGCGCTGAAGGGCCGGGGGGCGAGAAA
121918269	17189	NM_133433.3(NIPBL):c.4606C>T (p.Arg1536Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37014728	GTCATTACTAACTCTTATGAAACAGCTATGCGAACAGCCCAAAACTTCCTCTCCATCTTCC
548681312	264195	NM_147127.4(EVC2):c.2476C>T (p.Arg826Ter)	EVC2	Mar 10, 2016	MedGen:CN517202	not provided	germline	4	5622562	GAGGCCGTGACAGAGGAGCAGGCAGAGCTGCGACGCTGGGAGCACCTGATCTTCATGTGAG
137852218	25741	NM_203473.2(PORCN):c.370C>T (p.Arg124Ter)	PORCN	Jul 01, 2007	MedGen:C0016395,OMIM:305600,Orphanet:ORPHA2092	Focal dermal hypoplasia	germline	X	48511932	ATGGTAGACACCGTGACATGGCACAAGATGCGAGGTAGGTAGCCCTGCCCCTCTCACCTGC
148812376	190113	NM_001009944.2(PKD1):c.9829C>T (p.Arg3277Cys)	PKD1	Jun 07, 2017	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008;MedGen:CN517202	Polycystic kidney disease, adult type;not provided	germline	16	2099955	TGGGACCGGCCGCCTCGTAGCCGTTTCACTCGCATCCAGAGGGCCACCTGCTGCGTTCTCC
375851208	236863	NM_004526.3(MCM2):c.130C>T (p.Arg44Cys)	MCM2	May 31, 2016	MedGen:C4310775,OMIM:616968	Deafness, autosomal dominant 70	germline	3	127599441	CGTACTGATGCCCTCACCTCCAGCCCTGGCCGTGACCTTCCACCATTTGAGGATGAGTCCG
17852079	94484	NM_000311.4(PRNP):c.679C>T (p.Gln227Ter)	PRNP	Feb 01, 2010	MedGen:C0017495,OMIM:137440,Orphanet:ORPHA356,SNOMED CT:67155006	Gerstmann-Straussler-Scheinker syndrome	germline	20	4699899	CAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCT
772821016	212837	NM_000051.3(ATM):c.748C>T (p.Arg250Ter)	ATM	Oct 27, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108244873	CTCAAGACTTTGGCTGTCAACTTTCGAATTCGAGTGTGTGAATTAGGAGATGAAATTCTTC
121918001	28702	NM_000478.5(ALPL):c.211C>T (p.Arg71Cys)	ALPL	Oct 15, 1992	Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Infantile hypophosphatasia	germline	1	21561126	GGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACC
797044462	39835	NM_020223.3(FAM20C):c.982C>T (p.Pro328Ser)	FAM20C	Aug 01, 2011	MedGen:C1850106,OMIM:259775,Orphanet:ORPHA1832	Raine syndrome	germline	7	248340	GCCAGGATCCTGGACTTCCGCCGGGTCCCTCCCGTGGCCGGCAGGATGGTCAACATGACCA
201366610	26261	NM_004006.2(DMD):c.2302C>T (p.Arg768Ter)	DMD	Mar 01, 1993	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32501833	ATCTTTGCTCTCATGCTGCAGGCCATAGAGCGAGAAAAAGCTGAGAAGTTCAGAAAACTGC
1057516208	354170	NM_004523.3(KIF11):c.2341C>T (p.Gln781Ter)	KIF11	-	MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	germline	10	92645436	AAATTTTGTGCTGATTCTGATGGCTTCTCACAGGAACTCAGAAATTTTAACCAAGAAGGTA
121908858	21512	NM_003759.3(SLC4A4):c.85C>T (p.Gln29Ter)	SLC4A4	Apr 01, 2001	MedGen:C1970309,OMIM:604278,Orphanet:ORPHA93607	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	germline	4	71339333	GCCCGGAGCTCCACTTTCCTCAGGGTTGTCCAGCCAATGTTTAACCACAGTATTTTCACTT
398124144	100943	NM_004380.2(CREBBP):c.3337C>T (p.Gln1113Ter)	CREBBP	Mar 18, 2013	MedGen:CN517202	not provided	germline	16	3758886	CGACAGGACCCAGAGTCATTACCTTTCCGGCAGCCTGTAGATCCCCAGCTCCTCGGAATTC
727504299	179623	NM_000257.3(MYH7):c.2191C>T (p.Pro731Ser)	MYH7	May 11, 2012	MedGen:C3495498,OMIM:192600;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;not provided	germline	14	23425790	AGGTATCGCATCCTGAACCCAGCGGCCATCCCTGAGGGACAGTTCATTGATAGCAGGAAGG
121434500	23515	NM_003098.2(SNTA1):c.1169C>T (p.Ala390Val)	SNTA1	Mar 14, 2016	MedGen:C2751830,OMIM:612955;MedGen:CN517202	Long QT syndrome 12;not provided	germline	20	33410203	TGTTCAGCGTGGAGTCACCGCAGGAGCTGGCTGCCTGGACCCGCCAGCTTGTGGATGGCTG
189150283	274206	NM_006767.3(LZTR1):c.1084C>T (p.Arg362Ter)	LZTR1	Aug 03, 2016	MedGen:C3810283,OMIM:615670	Schwannomatosis 2	germline	22	20992304	TATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCA
199422187	34475	NM_018136.4(ASPM):c.9319C>T (p.Arg3107Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197092032	CTTTAGTTTTTAGAACAGAGAGCCAAAATTCGACTTCTTCACTTCACTGCAGCTGCATATT
863225243	214406	NM_005219.4(DIAPH1):c.3145C>T (p.Arg1049Ter)	DIAPH1	May 03, 2016	MedGen:C4225261,OMIM:616632,Orphanet:ORPHA477814;MedGen:CN517202	Seizures, cortical blindness, and microcephaly syndrome;not provided	germline	5	141528456	GACGAGCTTGCCCATGTGGAGAAAGCCAGCCGAGGTGGGGCAGTTTGGAATGAAGCTAGAG
80358538	66033	NM_000059.3(BRCA2):c.2881C>T (p.Gln961Ter)	BRCA2	Jan 03, 2017	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline;unknown	13	32337236	CTTGCAGAGGAGAACAAAAATAGTGTAAAGCAGCATATAAAAATGACTCTAGGTCAAGATT
555349004	424952	NM_173543.2(DZIP1L):c.269C>T (p.Ala90Val)	DZIP1L	Aug 07, 2017	MedGen:CN381221,OMIM:617610	POLYCYSTIC KIDNEY DISEASE 5	germline	3	138103703	ACCCGGCACTGCTCAAGGTGCTGCGCCTGGCGCAGCTCATCATTGAGTACCTGCTGCACTG
754616030	264000	NM_000081.3(LYST):c.10345C>T (p.Arg3449Ter)	LYST	Jun 29, 2016	MedGen:CN517202	not provided	germline	1	235702776	TTGCTAGTGCAGTTTGCTTTCAGGGAGACCCGAGAACAGGTCAAAGAAATCACCTATCCGG
727504181	177187	NM_001043353.1(TPM3):c.436C>T (p.Arg146Ter)	TPM3	Feb 03, 2014	MedGen:CN517202	not provided	germline	1	154172927	ATTGAAGGAGACTTGGAACGCACAGAGGAACGAGCTGAGCTGGCAGAGTCGTGAGTATCTA
80357010	45971	NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter)	BRCA1	Jan 11, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	17	43094051	GGAGCATTTGTTACTGAGCCACAGATAATACAAGAGCGTCCCCTCACAAATAAATTAAAGC
1060499563	384628	NM_007129.4(ZIC2):c.793C>T (p.Gln265Ter)	ZIC2	-	MedGen:C1864827,OMIM:609637	Holoprosencephaly 5	de novo	13	99982857	GAGCTAATCTGCAAGTGGATCGACCCCGAGCAACTGAGCAATCCCAAGAAGAGCTGCAACA
28937597	20873	NM_006790.2(MYOT):c.170C>T (p.Thr57Ile)	MYOT	Jul 28, 2016	MedGen:C1834659,OMIM:159000,Orphanet:ORPHA266;MedGen:CN517202	Limb-girdle muscular dystrophy, type 1A;not provided	germline	5	137870821	GTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTCTCACATCACCATGTCCTCCTC
367543063	40179	NM_023073.3(CPLANE1):c.4804C>T (p.Arg1602Ter)	CPLANE1	Apr 06, 2012	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	germline	5	37183377	TTACTTTTTGATGTACATACAACATTAAAACGACATCAGAGCAAAACTAAAAGCCAGAATG
397514405	36401	NM_000060.4(BTD):c.1211C>T (p.Thr404Ile)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645067	TTCACTCTGAGATGATGTATGACAATTTCACCCTGGTCCCTGTCTGGGGAAAGGAAGGCTA
886041503	264587	NM_015335.4(MED13L):c.1336C>T (p.Gln446Ter)	MED13L	Jan 28, 2016	MedGen:CN517202	not provided	germline	12	116009077	GTCGGGCCCAATCGACCTCCCACAGTATCTCAACCAGGGTTCAGTGCAGGACCATCATCAT
137854493	26618	NM_002547.2(OPHN1):c.184C>T (p.Gln62Ter)	OPHN1	Jun 01, 2003	MedGen:C1845366,OMIM:300486,Orphanet:ORPHA137831	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	germline	X	68299067	GATTATTCTTCTGCTGTTCAGAAATTTTCCCAGACGCTGCAGTCATTTCAGTTTGATTTCA
376576925	401712	NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter)	NF1	Apr 10, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31235963	TATCTACAAAAACTCCTGGATCCTTTATTACGAATTGTGATCACATCCTCTGATTGGCAAC
1114167442	417868	NM_002816.4(PSMD12):c.367C>T (p.Arg123Ter)	PSMD12	Jun 08, 2017	MedGen:CN249119,OMIM:617516	Stankiewicz-Isidor syndrome	germline	17	67350267	GAGGAAATCACAGACCTTCCTATCAAACTTCGATTAATTGATACTCTACGAATGGTTACCG
183208638	226421	NM_033419.4(PGAP3):c.*559C>T	PGAP3	Mar 01, 2016	MedGen:C3810354,OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	germline	17	39672244	GCTGGGATTGGGAAGGAGTTTCACCCTGACCATTGCCCTAGCCAGGTTCCCAGGAGGCCTC
121912288	26626	NM_001363.4(DKC1):c.1058C>T (p.Ala353Val)	DKC1	Jul 31, 2016	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008;MedGen:C1148551,OMIM:305000	Dyskeratosis congenita;Dyskeratosis congenita X-linked	germline	X	154773152	TGCCTGTAGCTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGT
137853049	22115	NM_006009.3(TUBA1A):c.1264C>T (p.Arg422Cys)	TUBA1A	Aug 03, 2017	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011;MedGen:CN517202	Lissencephaly 3;not provided	germline	12	49185102	GGGATGGAGGAAGGTGAGTTTTCAGAGGCCCGTGAGGACATGGCTGCCCTTGAGAAGGATT
121908839	21571	NM_003722.4(TP63):c.955C>T (p.Arg319Cys)	TP63	Jul 01, 2000	MedGen:C1854442,OMIM:605289	Split-hand/foot malformation 4	germline	3	189867905	AACAGCAGTTGTGTTGGAGGGATGAACCGCCGTCCAATTTTAATCATTGTTACTCTGGAAA
773711154	394759	NM_001369.2(DNAH5):c.5983C>T (p.Arg1995Ter)	DNAH5	Aug 12, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13830675	GGCAAAACAGAAACCACTAAAGACATGGGACGATGCCTCGGGAAATACGTCGTGGTTTTCA
1057517779	359757	NM_004959.4(NR5A1):c.937C>T (p.Arg313Cys)	NR5A1	Nov 11, 2015	MedGen:C2751824,OMIM:612965,Orphanet:ORPHA98085;MedGen:CN517202	46,XY sex reversal, type 3;not provided	germline	9	124493083	AGCGAGCTGCTGGTGTTCGACCACATCTACCGCCAGGTCCAGCACGGCAAGGAGGGCAGCA
587783272	167727	NM_018136.4(ASPM):c.7825C>T (p.Gln2609Ter)	ASPM	Feb 08, 2013	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197101426	CACAATGAACTTAAGAAAGAGACTTGTGTTCAGGCAGGTTTTCAGGACATGAACATAAAAA
397507171	36327	NM_000060.4(BTD):c.245C>T (p.Ala82Val)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15635624	ACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGAACCAGAACCTTGACAT
794728382	197230	NM_000238.3(KCNH2):c.2104C>T (p.Gln702Ter)	KCNH2	Aug 19, 2012	MedGen:CN517202	not provided	germline	7	150950962	CCCCTGCGCCAGCGCCTCGAGGAGTACTTCCAGCACGCCTGGTCCTACACCAACGGCATCG
146278035	169276	NM_005682.6(ADGRG1):c.286C>T (p.Arg96Ter)	ADGRG1	Feb 08, 2013	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline	16	57651421	GGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCTCTATG
137852604	24576	NM_130439.3(MXI1):c.362C>T (p.Ala121Val)	MXI1	Jul 01, 1999	Human Phenotype Ontology:HP:0100697,MedGen:C0206729	Neurofibrosarcoma	germline	10	110228276	ATTCAAAGCCCCCACGGAGGTTGAGCCGGGCACAGAAACACAGCAGCGGGAGCAGCAACAC
768366199	464458	NM_015346.3(ZFYVE26):c.4936C>T (p.Arg1646Ter)	ZFYVE26	Jun 27, 2017	MedGen:C0037772	Spastic paraplegia	germline	14	67777597	ACCCACTTCTATGGACAACTGACTGCTGTCCGACACCGTGAAATCCAGGCGCTGTATGTGG
1060502639	404245	NM_004006.2(DMD):c.2665C>T (p.Arg889Ter)	DMD	Oct 01, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32485057	CGGCTATCAGATCTTCAACCTCAAATTGAACGATTAAAAATTCAAAGCATAGCCCTGAAAG
111033845	36594	NM_000155.3(GALT):c.770C>T (p.Pro257Leu)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648844	CAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCT
121908894	21439	NM_001457.3(FLNB):c.518C>T (p.Ala173Val)	FLNB	Apr 01, 2004	MedGen:C0265283,OMIM:108720,Orphanet:ORPHA1190	Atelosteogenesis type 1	germline	3	58077271	AGAACTGGCAAGACGGCAAAGCCCTGGGAGCCCTGGTAGACAGCTGTGCTCCAGGTAAGTG
267606867	22381	NM_005144.4(HR):c.-315C>T	HR	Feb 01, 2009	Gene:50823,MedGen:C2750815,OMIM:146550	Hypotrichosis 4	germline	8	22130702	CGCAGCACGGAGTCTCGGCGTCCCATGGCGCAACCTACGGCCTCGGCCCAGAAGCTGGTGC
-1	426743	NM_183075.2(CYP2U1):c.943C>T (p.Gln315Ter)	CYP2U1	Jun 07, 2017	MedGen:C3539507,OMIM:615030,Orphanet:ORPHA320411	Spastic paraplegia 56, autosomal recessive	maternal	4	107945422	CATCAAGAGTCTCTGGATAGAGAGAACCCTCAGGACTTCATAGACATGTACCTTCTCCACA
1060501408	396851	NM_000118.3(ENG):c.-127C>T	ENG	Jul 25, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004	Osler hemorrhagic telangiectasia syndrome	germline	9	127854482	GGCCGCCACCCCAGAAGGCTGGAGCAGGGACGCCGTCGCTCCGGCCGCCTGCTCCCCTCGG
774159791	487201	NM_000255.3(MUT):c.1399C>T (p.Arg467Ter)	MUT	Apr 11, 2016	Human Phenotype Ontology:HP:0002912,MedGen:C0268583,SNOMED CT:42393006	Methylmalonic acidemia	germline	6	49448861	AAAGCTGTAGCTGAGGGAATACCTAAACTTCGAATTGAAGAATGTGCTGCCCGAAGACAAG
786200944	75294	NM_004249.3(RAB28):c.565C>T (p.Gln189Ter)	RAB28	Jul 11, 2013	MedGen:C3809299,OMIM:615374	Cone-rod dystrophy 18	germline	4	13376553	GGGATCAAATTAAACAAAGCAGAAATAGAACAGTCACAGGTGATTACCTTGAACTTTATAT
41511344	23596	NM_000901.4(NR3C2):c.2429C>T (p.Ser810Leu)	NR3C2	Jul 07, 2000	MedGen:C4016708	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	germline	4	148152550	CCCTAATCCAGTATTCTTGGATGTGTCTATCATCATTTGCCTTGAGCTGGAGATCGTACAA
758827458	444192	NM_014251.2(SLC25A13):c.1063C>T (p.Arg355Ter)	SLC25A13	Jul 27, 2017	MedGen:CN517202	not provided	germline	7	96184391	GCTGTGTATCCTATCGATCTTGTAAAAACTCGAATGCAGAACCAACGATCAACTGGCTCTT
397514717	75080	NM_080605.3(B3GALT6):c.694C>T (p.Arg232Cys)	B3GALT6	Jun 06, 2013	MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED CT:254100000	Spondyloepimetaphyseal dysplasia with joint laxity	germline	1	1232972	GCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGG
1131692169	424017	NM_006739.3(MCM5):c.1397C>T (p.Thr466Ile)	MCM5	Jul 10, 2017	MedGen:CN314201,OMIM:617564	MEIER-GORLIN SYNDROME 8	germline	22	35416388	TGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCC
121909208	22905	NM_000358.2(TGFBI):c.1663C>T (p.Arg555Trp)	TGFBI	Aug 01, 1998	MedGen:C1641846,OMIM:121900,Orphanet:ORPHA98962,SNOMED CT:419039007	Groenouw corneal dystrophy type I	germline	5	136056780	GAAGCCTTCCGAGCCCTGCCACCAAGAGAACGGAGCAGACTCTTGGGTAAAGACCAACTTA
431905509	51364	NM_005984.4(SLC25A1):c.844C>T (p.Arg282Cys)	SLC25A1	Apr 04, 2013	MedGen:C2746066,OMIM:615182,Orphanet:ORPHA19	Combined d-2- and l-2-hydroxyglutaric aciduria	germline	22	19176222	CCACCCAGATTCTACAAGGGCACTGTCCCCCGCCTGGGCCGGGTCTGCCTGGATGTGGCCA
397514783	75641	NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter)	TSC1	Jan 06, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	9	132902724	CAGATGTGGAAGGTTAGTCTGCAGAAAGAACAAGCTAGATACAATCAGCTCCAGGAGCAGC
201855602	273547	NM_000350.2(ABCA4):c.3056C>T (p.Thr1019Met)	ABCA4	Oct 17, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94043470	TTTTCTCGTTGTCCCATCCTCCTAGCCTCACGGTGGCTGAGCACATGCTGTTCTATGCCCA
141153181	214213	NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val)	CPLANE1	Jul 03, 2017	MedGen:C3553264,OMIM:614615;MedGen:CN517202	Joubert syndrome 17;not provided	germline;unknown	5	37198775	TCCTTCAGCGTGTTCTCCTGCTTTTCCGGGCGGCTCAGTGTTCTTTTCCTGTAGCACAGTG
757725348	244887	NM_001376.4(DYNC1H1):c.10420C>T (p.Arg3474Trp)	DYNC1H1	Feb 09, 2016	MedGen:CN517202	not provided	germline	14	102033982	CATCTTGTTCGGTTTTCCTTTTAGGTAAACCGGAGCACTGCTCTTCTGAAGAGCTTGTCTG
200335504	486675	NM_014055.3(IFT81):c.1534C>T (p.Arg512Ter)	IFT81	Feb 28, 2018	na	SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY	germline	12	110192683	TCAGCTCTTGCCTCAGTTATAAAAGAGCTACGACAGTTGCGTCAAAAATATCAAGTAAGTT
587783729	168933	NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter)	KMT2D	Feb 04, 2015	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline;unknown	12	49038613	CGTTTTTACCCTGTAAGTGAGGACCCCCACCGACTGGCTCCTGAAGGGCTTCGGGGCCTGG
752175052	375915	NM_020366.3(RPGRIP1):c.3565C>T (p.Arg1189Ter)	RPGRIP1	Jan 09, 2017	MedGen:CN517202	not provided	germline	14	21345145	ATAGACCTGGACCCACAGGAGCAGCAAGGCCGAAGGCGGTTTCTGTTCGACATGCTGAATG
794727688	194747	NM_003482.3(KMT2D):c.15535C>T (p.Arg5179Cys)	KMT2D	Oct 31, 2016	MedGen:CN030661,OMIM:147920;MedGen:CN517202	Kabuki syndrome 1;not provided	germline	12	49026431	ATTCAGCGGGGAGAACGGCTGCACATGTTCCGTGTGGGGGGCCTTGTGTTCCACGCCATCG
786203251	181605	NM_003000.2(SDHB):c.724C>T (p.Arg242Cys)	SDHB	Dec 01, 2016	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Gastrointestinal stroma tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma	germline	1	17022649	GCCAAGCTGCAGGACCCATTCTCTCTATACCGCTGCCACACCATCATGAACTGCACAAGGA
397514628	48506	NM_001291415.1(KDM6A):c.1711C>T (p.Arg571Ter)	KDM6A	Feb 15, 2013	MedGen:C3275495,OMIM:300867	Kabuki syndrome 2	germline	X	45063449	CAGATGAGACCAACAGGAGTTGCACAGGTACGATCTACTGGAATTCCTAATGGGCCAACAG
121918380	28225	NM_002906.3(RDX):c.463C>T (p.Gln155Ter)	RDX	May 01, 2007	MedGen:C1970239,OMIM:611022	Deafness, autosomal recessive 24	germline	11	110263964	GGCTACCTGGCTAATGATAGACTCCTACCCCAGCGGTAAGTGAAACATGCGTTTGCATTAT
398123861	100368	NM_004006.2(DMD):c.1465C>T (p.Gln489Ter)	DMD	Aug 09, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32614320	CTTGGACCTGATCTTGAAGACCTAAAACGCCAAGTACAACAACATAAGGTAGGTGTATCTT
61752871	28154	NM_000329.2(RPE65):c.271C>T (p.Arg91Trp)	RPE65	Apr 18, 2017	MedGen:C1859844,OMIM:204100;MedGen:C3151086,OMIM:613794;MedGen:C3151086,OMIM:613794;MedGen:CN517202	Leber congenital amaurosis 2;Retinitis pigmentosa 20;Retinitis pigmentosa 20;not provided	germline	1	68444858	TTCAGGTTCATCCGCACTGATGCTTACGTACGGGCAATGACTGAGAAAAGGATCGTCATAA
794729132	198450	NM_004572.3(PKP2):c.397C>T (p.Gln133Ter)	PKP2	Nov 30, 2011	MedGen:CN517202	not provided	germline	12	32878483	TGGGGAAGAGGAACAGCACAGTACAGCTCCCAGAAGTCCGTGGAAGAAAGGTCCTTGAGGC
755007671	244076	NM_003014.3(SFRP4):c.694C>T	SFRP4	Oct 03, 2017	Human Phenotype Ontology:HP:0100255,MedGen:C0265294,OMIM:265900,Orphanet:ORPHA3005,SNOMED CT:27837003	Pyle metaphyseal dysplasia	germline	7	37912216	GAGATCTTCAAGTCCTCATCACCCATCCCTCGAACTCAAGTCCCGCTCATTACAAATTCTT
397514621	48446	NM_001410.2(MEGF8):c.1342C>T (p.Arg448Ter)	MEGF8	Dec 10, 2012	MedGen:C3554247,OMIM:614976	Carpenter syndrome 2	germline	19	42336904	GGGCGGGATGGGCTTCAGGGCCCAAGGGAGCGAGCCTTCCACACAGCCAGTGTTCTGGGCA
587783692	168912	NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter)	KMT2D	Jul 27, 2017	MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:313426007;MedGen:CN030661,OMIM:147920	Kabuki syndrome;Kabuki syndrome 1	germline	12	49030958	CAGAAGGCAAGCGACAGGTTGGTGAGCTCCCGAAAGAAGCTGCGGAAGGAGGACGGGGTCA
121908982	21959	NM_003550.2(MAD1L1):c.175C>T (p.Arg59Cys)	MAD1L1	May 31, 2001	MedGen:C4015779	Prostate cancer, somatic	somatic	7	2225526	GCTCAGCTGGAGGAAAGAGCAGAGCAGATCCGTTCGAAGTCCCACCTCATCCAGGTGGAGC
387906830	39199	NM_003384.2(VRK1):c.397C>T (p.Arg133Cys)	VRK1	Sep 21, 2011	Gene:100852400,MedGen:C1843504,OMIM:607596	Pontocerebellar hypoplasia type 1A	germline	14	96852853	GTCTTCAGTTACAGGTTTATGATAATGGATCGCTTTGGGAGTGACCTTCAGAAAATATATG
749125777	426918	NM_001171.5(ABCC6):c.2784C>T (p.Gly928=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16173287	GCCAGCAGGAAAGGACAGCATCCAATACGGCAGGGTAACCACCAGCTTCACCCACCCCTCC
1057517938	359696	NM_000445.4(PLEC):c.7612C>T (p.Gln2538Ter)	PLEC	Oct 24, 2016	MedGen:CN517202	not provided	germline	8	143922290	AGCCTGCTACAGCGGGAGCGCTTCATCGAGCAGGAGAAGGCCAAGCTGGAGCAGCTCTTCC
1057517786	359498	NM_145860.1(PDCD10):c.103C>T (p.Arg35Ter)	PDCD10	Apr 02, 2015	MedGen:CN517202	not provided	germline	3	167704889	AATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGA
587777659	153788	NM_001288767.1(ARMC5):c.2977C>T (p.Arg993Trp)	ARMC5	Jun 01, 2014	MedGen:C4014803,OMIM:615954	Acth-independent macronodular adrenal hyperplasia 2	germline	16	31466773	ACACTGGGGTCAGAGCAGTGCCCGAGGAAGCGGGGTCTGGCCCTGGTGGGGCTTGTGGAGG
757336022	264193	NM_003023.4(SH3BP2):c.1252C>T (p.Pro418Ser)	SH3BP2	Jul 08, 2016	MedGen:CN517202	not provided	germline	4	2831581	TCCTCTCCCTGCCCCTCCAGGCGATCACCCCCCGATGGGCAGAGTTTCAGGAGCTTCTCCT
587783287	167751	NM_018136.4(ASPM):c.9091C>T (p.Arg3031Ter)	ASPM	Feb 08, 2013	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197093255	TTACTTGTAAATTTTTCCTTATAGAGACATCGAGCTGCTTGTTTGATCCAAGCACATTATA
757641323	360113	NM_025114.3(CEP290):c.451C>T (p.Arg151Ter)	CEP290	Feb 02, 2017	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005;MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:CN517202	Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not provided	germline	12	88131209	TTTTTTTTTTTACTATTTTAGTTGGCTCTTCGAAATGAGGAGGCAGAAAATGAAAACAGCA
886043113	269714	NM_004369.3(COL6A3):c.7024C>T (p.Arg2342Ter)	COL6A3	Dec 05, 2016	MedGen:CN033863,OMIM:254090;MedGen:CN517202	Ullrich congenital muscular dystrophy 1;not provided	germline	2	237347812	GGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGC
121908546	20940	NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)	SCN4A	Aug 07, 2015	MedGen:C4016868;MedGen:C0752355,OMIM:608390,Orphanet:ORPHA99734;MedGen:CN517202	Paramyotonia congenita/myotonia congenita;Potassium aggravated myotonia;not provided	germline	17	63951866	TGAACCTGTTCCTGGCTCTGCTGCTGAGCTCCTTCAGCGCCGACAGTCTGGCAGCCTCGGA
137852820	26575	NM_003688.3(CASK):c.1186C>T (p.Pro396Ser)	CASK	May 01, 2009	MedGen:C1845546,OMIM:300422	FG syndrome 4	germline	X	41589562	CTGTATGACAAAATTAACACAAAGTCTTCACCACAAATCAGGAATCCTCCAAGCGATGCAG
387907157	40228	NM_002834.4(PTPN11):c.1516C>T (p.Gln506Ter)	PTPN11	Apr 01, 2011	MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009	Metachondromatosis	germline	12	112489092	ATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGATTTATCTATA
137852846	17705	NM_182760.3(SUMF1):c.1045C>T (p.Arg349Trp)	SUMF1	May 16, 2003	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003	Multiple sulfatase deficiency	germline	3	4362224	TCTTATTGTTACAGGTATCGCTGTGCTGCTCGGAGCCAGAACACACCTGATAGCTCTGCTT
-1	485008	NM_024675.3(PALB2):c.2464C>T (p.Gln822Ter)	PALB2	Jun 15, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23629690	CCCATTGAGTCATTCACTTTTAAAGAAAATCAGCTCTGTAGAAACACATGCCAGGAGCTGC
121918294	17757	NM_017671.4(FERMT1):c.862C>T (p.Arg288Ter)	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6097619	CTCTGTTTTTGTCTCTAGTATGATGCTGTCCGAATAAACCAACTCTATGAGCAAGCCAGGT
780318765	196420	NM_004946.2(DOCK2):c.3310C>T (p.Arg1104Trp)	DOCK2	Jun 18, 2015	MedGen:C4225328,OMIM:616433,Orphanet:ORPHA447737	Immunodeficiency 40	germline	5	170019037	GAGATGACACTTATCCCTGAGGCTGAGCTCCGGAAAGCCACCATACCAATCTTCTTCGACA
199476144	24588	m.1624C>T	MT-TV	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;Human Phenotype Ontology:HP:0003811,MedGen:C0410916	Leigh syndrome;Neonatal death	germline	MT	1624	GGACGAACCAGAGTGTAGCTTAACACAAAGCACCCAACTTACACTTAGGAGATTTCAACTT
387907215	44151	NM_017565.3(FAM20A):c.826C>T (p.Arg276Ter)	FAM20A	Jul 11, 2012	MedGen:C2931783,OMIM:204690,Orphanet:ORPHA1031,SNOMED CT:109477002	Enamel-renal syndrome	germline	17	68542796	AGCTTCCTCTCTTGCAGGATTCTGGACTTCCGACGGGTGCCGCCAACAGTGGGGAGGATAG
587777587	152012	NM_002880.3(RAF1):c.1922C>T (p.Thr641Met)	RAF1	Jun 01, 2014	MedGen:C4014656,OMIM:615916	Cardiomyopathy, dilated, 1NN	germline	3	12584539	CTGAGGATATCAATGCTTGCACGCTGACCACGTCCCCGAGGCTGCCTGTCTTCTAGTTGAC
121908325	19814	NM_015627.2(LDLRAP1):c.406C>T (p.Gln136Ter)	LDLRAP1	May 18, 2001	MedGen:C1863512,OMIM:603813	Hypercholesterolemia, autosomal recessive	germline	1	25557214	GACAAGGTGTTTGCATACATCGCCCAGAGCCAGCACAACCAGAGCCTCGAGTGCCACGCCT
121908672	21323	NM_002335.3(LRP5):c.641C>T (p.Ala214Val)	LRP5	Mar 01, 2003	MedGen:C0432273,OMIM:144750,Orphanet:ORPHA2790,SNOMED CT:254131007	Worth disease	germline	11	68357802	TGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCACCGTGCCAACCT
374722096	195589	NM_000532.4(PCCB):c.683C>T (p.Pro228Leu)	PCCB	Sep 12, 2016	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35;MedGen:CN517202;MedGen:CN169374	Propionic acidemia;not provided;not specified	germline	3	136293784	AGGACACCTCCTACCTGTTCATCACTGGCCCTGATGTTGTGAAGTCTGTCACCAATGAGGA
367543286	70502	NM_002609.3(PDGFRB):c.1681C>T (p.Arg561Cys)	PDGFRB	Apr 10, 2017	MedGen:CN177837,SNOMED CT:254146000;MedGen:C0432284,OMIM:228550,Orphanet:ORPHA2591;MedGen:CN517202	Infantile myofibromatosis;Infantile myofibromatosis 1;not provided	germline;not applicable;somatic	5	150125571	TAATTCCTGGGGTTGGTCCTCCAGAAGCCACGTTACGAGATCCGATGGAAGGTGATTGAGT
121909056	22118	NM_002700.2(POU4F3):c.865C>T (p.Leu289Phe)	POU4F3	Apr 01, 2008	MedGen:C1865366,OMIM:602459	Deafness, autosomal dominant 15	germline	5	146340292	ACGTCCATCGCGGCGCCGGAGAAGCGTTCACTCGAGGCCTATTTCGCTATCCAGCCACGTC
137852298	25561	NM_000273.2(GPR143):c.266C>T (p.Ser89Phe)	GPR143	Jan 01, 2007	MedGen:C3151752,OMIM:300814	Nystagmus 6, congenital, X-linked	germline	X	9760811	CCAATTCTCTCTTAGGTATGGTGATCCGGTCCACCGTGTGGTTAGGATTCCCAAATTTTGT
201358272	205754	NM_002047.3(GARS):c.1904C>T (p.Ser635Leu)	GARS	Nov 20, 2014	MedGen:C1832274,OMIM:601472,Orphanet:ORPHA99938	Charcot-Marie-Tooth disease type 2D	maternal	7	30632247	TTTTTAATTTACTTTGTTTATTTTGGATAGCGGAAGCCCTGACCAGGCATGGAGTATCTCA
137852266	25662	NM_000133.3(F9):c.1307C>T (p.Ala436Val)	F9	Dec 01, 1988	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561992	CTGGAATTATTAGCTGGGGTGAAGAGTGTGCAATGAAAGGCAAATATGGAATATATACCAA
483352912	94408	NM_001110.3(ADAM10):c.415C>T (p.Pro139Ser)	ADAM10	Nov 25, 2013	MedGen:C0406811,OMIM:615537,Orphanet:ORPHA178307,SNOMED CT:239133004	Reticulate acropigmentation of Kitamura	germline	15	58679193	CAGACTCGTGGTGGCACATTTTATGTTGAGCCAGCAGAGAGATATATTAAAGACCGAACTC
542652468	171000	NM_152296.4(ATP1A3):c.410C>T (p.Ser137Phe)	ATP1A3	Jun 22, 2015	Human Phenotype Ontology:HP:0000363,MedGen:C4021808;MedGen:C3553788,OMIM:614820;Human Phenotype Ontology:HP:0005280,MedGen:C1836542;Human Phenotype Ontology:HP:0000286,MedGen:C1303004;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0002119,MedGen:C3278923	Abnormality of earlobe;Alternating hemiplegia of childhood 2;Depressed nasal bridge;Epicanthus;Seizures;Ventriculomegaly	de novo;unknown	19	41986177	CGGCCGTGGTGATCATCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGAT
267608437	153523	NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe)	CDKL5	Apr 26, 2016	MedGen:C1839333,OMIM:300672;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Early infantile epileptic encephalopathy 2;Rett syndrome	de novo;germline	X	18575407	ACTTTACGAGAGCTTAAAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGG
267606684	15180	NM_033409.3(SLC52A3):c.394C>T (p.Arg132Trp)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	765381	TCTTCAGTGACCTTCCTGCCGTTCATGAGCCGGCTGCCCACCTACTACCTCACCACCTTCT
80358476	65884	NM_000059.3(BRCA2):c.1855C>T (p.Gln619Ter)	BRCA2	Sep 11, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32333333	CAAAAATCAGAACTAATTAACTGTTCAGCCCAGTTTGAAGCAAATGCTTTTGAAGCACCAC
118204450	15720	NM_000147.4(FUCA1):c.1279C>T (p.Gln427Ter)	FUCA1	Apr 06, 2017	MedGen:C0016788,OMIM:230000,Orphanet:ORPHA349,SNOMED CT:64716005	Fucosidosis	germline	1	23845837	TGTTTTCTGCAGATAACAATGCTGGGAATTCAAGGAGATCTGAAGTGGTCCACAGATCCAG
180177322	171743	NM_012203.1(GRHPR):c.904C>T (p.Arg302Cys)	GRHPR	Dec 12, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline	9	37436699	CCCCACATTGGCAGTGCCACCCACAGAACCCGCAACACCATGTCCTTGTTGGCAGCTAACA
61754453	153259	NM_004992.3(MECP2):c.302C>T (p.Pro101Leu)	MECP2	Feb 03, 2006	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	unknown	X	154032282	GGGGACCCATGTATGATGACCCCACCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAG
-1	440047	NM_152703.4(SAMD9L):c.2956C>T (p.Arg986Cys)	SAMD9L	Mar 01, 2017	MedGen:C1327919,OMIM:159550,Orphanet:ORPHA2585	Myelocerebellar disorder	germline	7	93133016	GTTGCAGAATATGGGAGATACACAGGTGTGCGTATCATTCACCCTCTGATTGCCCTGTACT
80338957	20935	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	SCN4A	Jun 19, 2017	Human Phenotype Ontology:HP:0007215,MedGen:C0238357,Orphanet:ORPHA682,SNOMED CT:278513006;MedGen:CN074266,OMIM:170500;MedGen:C1858891;MedGen:CN517202	Familial hyperkalemic periodic paralysis;Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita/hyperkalemic periodic paralysis;not provided	germline	17	63957427	GCAATTCAGTGGGGGCGCTGGGTAACCTGACGCTGGTGCTGGCTATCATCGTGTTCATCTT
864309542	215117	NM_001271.3(CHD2):c.2725C>T (p.Gln909Ter)	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	92978381	GCCCGAGCGCATAGAATTGGTCAAAAGAAGCAGGTCAGTATGGAGAGGCTTCTGGAAATTG
387907156	40224	NM_017415.2(KLHL3):c.1277C>T (p.Pro426Leu)	KLHL3	Mar 11, 2012	MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525	Pseudohypoaldosteronism type 2D	germline	5	137637338	ACAAGACCAACGAGTGGTTCTTTGTGGCCCCGATGAACACGCGGCGGAGCAGTGTGGGTGT
121908564	20929	NM_006502.2(POLH):c.1117C>T (p.Gln373Ter)	POLH	Jul 09, 1999	MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342	Xeroderma pigmentosum, variant type	germline	6	43610596	GCCACCCAGCTGGTTGTGAGCATTCGTGTACAAGGAGACAAACGCCTCAGCAGCCTGCGCC
150800017	372204	NM_001197104.1(KMT2A):c.4504C>T (p.Arg1502Ter)	KMT2A	Jan 24, 2017	MedGen:CN517202	not provided	germline	11	118489816	TTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGAC
886039657	260272	NM_000061.2(BTK):c.307C>T (p.Gln103Ter)	BTK	Jul 06, 2016	MedGen:CN517202	not provided	germline	X	101371635	TCAATCATTGAAAGGTTCCCTTATCCCTTCCAGGTGAGTTATTTTCTCTCACCAAATCTCG
118204027	16530	NM_001039141.2(TRIOBP):c.1741C>T (p.Gln581Ter)	TRIOBP	Jan 01, 2006	MedGen:C1853276,OMIM:609823	Deafness, autosomal recessive 28	germline	22	37724297	ACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCA
397507477	48845	NM_004333.4(BRAF):c.1513C>T (p.Leu505Phe)	BRAF	Mar 07, 2017	MedGen:CN517202	not provided	germline	7	140777995	TTACAAGCCTTCAAAAATGAAGTAGGAGTACTCAGGTGAGCTTGTGTGAATTACTCTTTTC
267606794	15074	NM_001201543.1(FAM161A):c.685C>T (p.Arg229Ter)	FAM161A	Sep 10, 2010	MedGen:C1853734,OMIM:606068	Retinitis pigmentosa 28	germline	2	61840319	TTCCATGCAGCTGAAAAAAGAAGGAAGAAACGAAAAGAATGGGTGCCCACAATTACAGTAC
886043300	270303	NM_194456.1(KRIT1):c.715C>T (p.Gln239Ter)	KRIT1	Apr 07, 2017	MedGen:C1861784,OMIM:116860;MedGen:CN517202	Cerebral cavernous malformation;not provided	germline	7	92235417	ATTTACAACCCTTTGTTTGGATCAGATCTTCAGTATACAAATCGGGTAAGAGTTGAATGAA
137852968	19596	NM_153638.3(PANK2):c.1441C>T (p.Arg481Ter)	PANK2	Jun 11, 2002	MedGen:C1846582,OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	germline	20	3916955	AGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCA
1131690959	420442	NM_000551.3(VHL):c.286C>T (p.Gln96Ter)	VHL	May 27, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	10142133	CCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCCTGGCACGG
-1	482025	NM_003482.3(KMT2D):c.6664C>T (p.Gln2222Ter)	KMT2D	Oct 03, 2017	MedGen:CN517202	not provided	germline	12	49041106	CTGGGCGCCTCATCTCGTCCTGGGGCTGGCCAGCCAGGGGAATTCCACACTACCCCACCTG
375661578	480453	NM_000492.3(CFTR):c.3988C>T (p.Gln1330Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117664712	CTGCAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTG
63750139	94946	NM_000179.2(MSH6):c.3838C>T (p.Gln1280Ter)	MSH6	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47806488	ATGGTAGAAAATGAATGTGAAGACCCCAGCCAGGAGACTATTACGTTCCTCTATAAATTCA
397516436	52759	NM_000546.5(TP53):c.637C>T (p.Arg213Ter)	TP53	Aug 04, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;not provided	germline	17	7674894	GTGGAGTATTTGGATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTATGAGCCGC
201930497	361740	NM_007113.3(TCHH):c.991C>T (p.Gln331Ter)	TCHH	Jan 05, 2017	MedGen:C4310648,OMIM:617252	Uncombable hair syndrome 3	germline	1	152112226	AGGCGCGAGCAGCAGGAGAGGCGCGAGCAGCAGGAGGAGAGGCGCGAGCAGCAGCTGAGGC
137853067	22502	NM_002241.4(KCNJ10):c.595C>T (p.Arg199Ter)	KCNJ10	Aug 10, 2010	MedGen:C2748572,OMIM:612780,Orphanet:ORPHA199343	SeSAME syndrome	germline	1	160041938	TCCCACAATGGCAAGCCCTGCCTCATGATCCGAGTTGCCAATATGCGCAAAAGCCTCCTCA
75895925	16436	NM_018418.4(SPATA7):c.1183C>T (p.Arg395Ter)	SPATA7	May 02, 2013	MedGen:C1858677,OMIM:604232	Leber congenital amaurosis 3	germline	14	88437565	ATTTGTAGGTTTTTAGAACGACTGTTCGAGCGACATATAAAACAAAATAAACATTTGGAGG
1131691554	422193	NM_000346.3(SOX9):c.509C>T (p.Pro170Leu)	SOX9	Sep 18, 2015	MedGen:CN517202	not provided	germline	17	72122796	GGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAA
1060499579	404753	NM_003742.2(ABCB11):c.2380C>T (p.Gln794Ter)	ABCB11	Apr 19, 2016	MedGen:C2608083,OMIM:605479,Orphanet:ORPHA99961;MedGen:C1866138,OMIM:601847	Benign recurrent intrahepatic cholestasis 2;Progressive familial intrahepatic cholestasis 2	paternal	2	168944925	TCAATTCCTGATAAAGAGGAACAAAGGTCACAGATCAATGGTGTGTGCCTACTTTTTGTAG
763187844	450703	NM_004369.3(COL6A3):c.76C>T (p.Gln26Ter)	COL6A3	Nov 14, 2016	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	2	237396742	TTTCTCTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGGTAAGAGCCAGAAAC
142908436	227736	NM_013334.3(GMPPB):c.859C>T (p.Arg287Trp)	GMPPB	May 13, 2016	MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	germline	3	49722057	GGCGTGGTGGTCGAAGATGGTGTGTGTATCCGGCGGTGCACGGTGCTGCGGGATGCCCGGA
61749414	104985	NM_000350.2(ABCA4):c.1903C>T (p.Gln635Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94062611	CAGGCGGAGGCTCCAGTTGGAATCTACCTCCAGCAGATGCCCTACCCCTGCTTCGTGGACG
-1	443330	NM_003042.3(SLC6A1):c.130C>T (p.Arg44Trp)	SLC6A1	Aug 11, 2017	MedGen:CN517202	not provided	germline	3	11017341	GTGCAGAAGAAGGCGGCAGACCTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCC
72555365	15977	NM_000404.3(GLB1):c.1444C>T (p.Arg482Cys)	GLB1	Aug 01, 1995	MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	Mucopolysaccharidosis, MPS-IV-B	germline	3	33016744	ACTCTGGACCTTCTGGTAGAGAACATGGGACGTGTGAACTATGGTGCATATATCAACGATT
111033649	36468	NM_000155.3(GALT):c.160C>T (p.Gln54Ter)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647166	GTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGA
374574638	222987	NM_014704.3(CEP104):c.496C>T (p.Arg166Ter)	CEP104	Feb 02, 2016	MedGen:C4084842,OMIM:616781	Joubert syndrome 25	germline	1	3844977	TAAGCAGATGTTTTGCCCCCAAAGGCCTCTCGAGAGAAGTTGATTGACCACTACCTTGGGC
74315343	20400	NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter)	NPHS2	Dec 21, 2015	MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656	Nephrotic syndrome, idiopathic, steroid-resistant	germline;unknown	1	179561328	GTACAAGAGTATGAAAGAGTAATTATATTCCGACTGGGACATCTGCTTCCTGGAAGAGCCA
63750611	96034	NM_000251.2(MSH2):c.1189C>T (p.Gln397Ter)	MSH2	Jun 03, 2014	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47429854	CTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGAC
118192124	76887	NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp)	RYR1	Aug 22, 2017	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN239331;MedGen:CN517202	Central core disease;RYR1-Related Disorders;not provided	germline;unknown	19	38500636	CTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGC
397515460	76934	NM_015896.3(ZMYND10):c.967C>T (p.Gln323Ter)	ZMYND10	Aug 08, 2013	MedGen:C3809543,OMIM:615444	Ciliary dyskinesia, primary, 22	germline	3	50342047	TTCCTGGCCCATCTGACCCTAACTGAAACCCAGCCTCCTAAGAAGGACCTGGTGTTGGAAC
587783533	169918	NM_178151.2(DCX):c.218C>T (p.Ser73Phe)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410181	GCTACTTCAAGGGGATTGTGTACGCTGTGTCCTCTGACCGTTTTCGCAGCTTTGACGCCTT
-1	480737	NM_001791.3(CDC42):c.476C>T (p.Ala159Val)	CDC42	Nov 01, 2017	MedGen:CN517202	not provided	de novo	1	22086856	TGAAGGCTGTCAAGTATGTGGAGTGTTCTGCACTTACACAGGTAAGAATGGCATGAAACCC
200389141	132935	NM_000057.3(BLM):c.1642C>T (p.Gln548Ter)	BLM	Jul 18, 2017	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Bloom syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	15	90761015	GCTTCAATAAATGACTTAGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACA
587777385	136548	NM_001615.3(ACTG2):c.118C>T (p.Arg40Cys)	ACTG2	Nov 24, 2015	MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241;MedGen:CN517202	Visceral myopathy;not provided	de novo;germline	2	73901429	GCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCA
180177225	200500	NM_000030.2(AGXT):c.473C>T (p.Ser158Leu)	AGXT	Jul 07, 2017	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240871398	CAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGG
121908416	20460	NM_004924.5(ACTN4):c.776C>T (p.Thr259Ile)	ACTN4	Mar 01, 2000	MedGen:C0333497,OMIM:603278	Focal segmental glomerulosclerosis 1	germline	19	38710299	CGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTC
137854155	58748	NM_000548.4(TSC2):c.2666C>T (p.Ala889Val)	TSC2	Jul 05, 2012	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2076094	TCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG
121434558	32038	NM_005266.6(GJA5):c.262C>T (p.Pro88Ser)	GJA5	Jun 22, 2006	MedGen:C4015977	Atrial fibrillation, somatic	somatic	1	147758977	TGGGTGCTGCAGATCATCTTCGTCTCCACGCCCTCTCTGGTGTACATGGGCCACGCCATGC
886041398	264679	NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter)	KMT2D	Jul 12, 2017	MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:313426007;MedGen:CN030661,OMIM:147920;MedGen:CN517202	Kabuki syndrome;Kabuki syndrome 1;not provided	de novo;germline	12	49022063	GAGGACAAAATCATCATCATCTCCAGCCGGCGAATCCCCAAAGGAGAGGAGGTGAGAGGAA
74597325	22161	NM_000492.3(CFTR):c.1657C>T (p.Arg553Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN517202	Cystic fibrosis;Hereditary pancreatitis;not provided	germline;unknown	7	117587811	GAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGGTGAATAA
-1	475891	NM_000051.3(ATM):c.5065C>T (p.Gln1689Ter)	ATM	Jun 20, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108299773	GGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGG
121909122	22411	NM_001083962.1(TCF4):c.1153C>T (p.Arg385Ter)	TCF4	Jun 07, 2017	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;MedGen:CN517202	Pitt-Hopkins syndrome;not provided	de novo;germline	18	55254694	TTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATG
672601370	171771	NM_001244008.1(KIF1A):c.946C>T (p.Arg316Trp)	KIF1A	Feb 23, 2017	MedGen:C3280283,OMIM:614255;MedGen:CN517202	Mental retardation, autosomal dominant 9;not provided	de novo;germline	2	240775863	TACCGAGATTCCGTGTTGACCTGGCTCCTCCGGGAAAACCTGGGTGAGAACTTGTGGGTTT
879255152	246537	NM_000527.4(LDLR):c.2164C>T (p.Gln722Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11123197	CTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCA
61758444	439355	NM_001385.2(DPYS):c.1423C>T (p.Arg475Ter)	DPYS	Jul 28, 2017	MedGen:CN517202	not provided	germline	8	104392804	CGAAAACCATTTGCTGAATATATTTACAAACGAATAAAGCAGCGAGACCGGGTGAGTGTGC
794728015	171809	NM_018419.2(SOX18):c.481C>T (p.Gln161Ter)	SOX18	Oct 01, 2014	MedGen:C1843004,OMIM:607823	Hypotrichosis-lymphedema-telangiectasia syndrome	germline	20	64048840	AACTACAAGTACCGGCCGCGCCGCAAGAAGCAGGCGCGCAAGGCCCGGCGGCTGGAGCCCG
121912485	29585	NM_000228.2(LAMB3):c.2806C>T (p.Gln936Ter)	LAMB3	May 01, 1998	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006	Junctional epidermolysis bullosa gravis of Herlitz	germline	1	209618555	GCTACTGTTCTGCAGAAGATGAATGAGATCCAGGCCATTGCAGCCAGGCTCCCCAACGTGG
-1	480420	NM_017934.6(PHIP):c.3706C>T (p.Arg1236Ter)	PHIP	Oct 16, 2017	MedGen:CN517202	not provided	unknown	6	78958551	TGGGAAGTTCGATATATAGAGCATAATACACGAACATTTAATGAGCCTGGAAGCCCTATTG
387906948	39561	NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36935111	GTCCGAATCATTGATACACCTCAATTTCAACGTCTTCGATACATCAAACAGCTGGGAGGTG
398123675	99917	NM_001918.3(DBT):c.871C>T (p.Arg291Ter)	DBT	Oct 11, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	1	100214885	GAGATTGACCTTACTGAACTGGTTAAGCTCCGAGAAGAATTAAAACCCATTGCATTTGCTC
387906604	38588	NM_000094.3(COL7A1):c.8479C>T (p.Gln2827Ter)	COL7A1	Feb 01, 2002	MedGen:C2673612	Epidermolysis bullosa dystrophica inversa, autosomal recessive	germline	3	48565458	CCTAGTTATGCTGCAGACACTGCCGGCTCCCAGCTCCATGCTGTGCCTGTGCTCCGCGTCT
879254784	245976	NM_000527.4(LDLR):c.1075C>T (p.Gln359Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111528	TTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCG
587781430	150719	NM_000465.3(BARD1):c.733C>T (p.Gln245Ter)	BARD1	Oct 09, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	2	214781141	TCTAAGCAAAAGCTGGTATCCTTCTGTAGCCAACCATCTGTTATCTCCAGTCCTCAGATAA
1064792860	224748	NM_001257989.1(TYMP):c.328C>T (p.Gln110Ter)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50529225	CAGCAGCTGGAGTGGCCAGAGGCCTGGCGCCAGCAGCTTGTGGACAAGCATTCCACAGGGG
80338729	34366	NM_014251.2(SLC25A13):c.1813C>T (p.Arg605Ter)	SLC25A13	Nov 02, 2015	MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598;MedGen:CN517202	Neonatal intrahepatic cholestasis caused by citrin deficiency;not provided	germline	7	96121683	GTAACTTTGCTGACTTACGAATTGCTACAGCGATGGTTCTACATTGATTTTGGAGGAGTGT
1057520753	366028	NM_006922.3(SCN3A):c.3998C>T (p.Pro1333Leu)	SCN3A	May 19, 2015	MedGen:CN517202	not provided	germline	2	165097493	TGGTTGTGAATGCTCTTGTTGGAGCAATTCCCTCTATCATGAATGTGCTGTTGGTCTGTCT
397514671	49900	NM_003156.3(STIM1):c.1285C>T (p.Arg429Cys)	STIM1	Apr 01, 2013	MedGen:C2748557,OMIM:612783,Orphanet:ORPHA317430	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	germline	11	4083309	GTGACAGCAGCATTGCGGGAGCGCCTGCACCGCTGGCAACAGATCGAGATCCTCTGTGGCT
1131691667	421688	NM_000503.5(EYA1):c.889C>T (p.Arg297Ter)	EYA1	May 09, 2017	MedGen:CN517202	not provided	germline	8	71271835	ATTAAAGATTCAGATTCTGATCGATTGCGTCGAGGTTCAGATGGGAAATCACGTGGACGGG
104894287	28193	NM_000448.2(RAG1):c.2521C>T (p.Arg841Trp)	RAG1	Nov 01, 2005	MedGen:C1835931,OMIM:609889,Orphanet:ORPHA231154	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity	germline	11	36575825	AGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGA
587784076	168126	NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter)	NSD1	Jan 12, 2017	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002;MedGen:CN035106,OMIM:117550;MedGen:CN517202	Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided	germline	5	177210209	CCTGAGGGTGCTTTGATCTCAAAGTGTTCTCGAGAGAAGAATAAACCCCAACGAAGCCTGG
1057517668	359067	NM_003412.3(ZIC1):c.1165C>T (p.Gln389Ter)	ZIC1	Feb 28, 2018	MedGen:C4225269,OMIM:616602	Craniosynostosis 6	germline	3	147413372	TTATTCCTGCAGGTCCACGAATCCTCCTCGCAGGGCTCGCAGCCTTCGCCGGCCGCCAGCT
104894843	25782	NM_000169.2(GLA):c.1024C>T (p.Arg342Ter)	GLA	Jun 07, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398075	TTTCAGGGAGACAACTTTGAAGTGTGGGAACGACCTCTCTCAGGCTTAGCCTGGGCTGTAG
118204042	15543	NM_001010892.2(RSPH4A):c.325C>T (p.Gln109Ter)	RSPH4A	May 27, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C2675229,OMIM:612649	Ciliary dyskinesia;Ciliary dyskinesia, primary, 11	germline	6	116616948	CCGGCCAGACAAGACCTCGCGGCACCACCTCAGTCGGACAGGACCACGAGTGTGATTCCTG
587777332	132624	NM_005051.2(QARS):c.1207C>T (p.Arg403Trp)	QARS	Apr 03, 2014	MedGen:C4014239,OMIM:615760,Orphanet:ORPHA404437	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	germline	3	49100049	GGCAAGTTTTCAGAGGGCGAGGCCACACTACGGATGAAGCTGGTGATGGAGGATGGCAAGA
863225198	214304	NM_019892.5(INPP5E):c.1064C>T (p.Thr355Met)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136433250	GGCGGGAGTGGGAGACTCGTCTGCAGGAGACGCTGGGCCCGCACTATGTGCTGCTGTCCTC
137854577	15853	NM_000038.5(APC):c.643C>T (p.Gln215Ter)	APC	Nov 15, 2016	MedGen:C2673218;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Brain tumor-polyposis syndrome 2;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	germline;unknown	5	112780901	GGTACCTGCCAGGATATGGAAAAACGAGCACAGGTAAGTTACTTGTTTCTAAGTGATAAAA
386833750	15786	NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter)	CC2D2A	Dec 05, 2017	MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454;Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:CN121474;MedGen:CN517202	COACH syndrome;Joubert syndrome;Joubert syndrome 9/15, digenic;not provided	germline	4	15563485	GGAGACATAAAGCTGCTGGTGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGG
387906906	39432	NM_021625.4(TRPV4):c.2219C>T (p.Thr740Ile)	TRPV4	Apr 02, 2014	MedGen:C0265281,OMIM:156530,Orphanet:ORPHA2635,SNOMED CT:22764001;MedGen:C0027868,Orphanet:ORPHA68381;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Metatrophic dysplasia;Neuromuscular Diseases;Skeletal dysplasia	germline	12	109786827	CTGACCCTCCCTCCCCGCAGTGGGCCACCACCATCCTGGACATTGAGCGCTCCTTCCCCGT
201697532	272152	NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys)	COL4A3	Jul 11, 2016	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919;MedGen:CN517202	Alport syndrome, autosomal recessive;not provided	germline	2	227311838	AAAGCTGGGGAATTAGAAAAAATAATAAGTCGCTGTCAGGTGTGCATGAAGAAAAGACACT
762543032	214270	NM_153704.5(TMEM67):c.244C>T (p.Pro82Ser)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93755798	TTTTTTTTAGGAACTTCATGTGTATGTCTACCAGGATTTCAGATGATCTCTAATAATGGAG
121908835	21566	NM_003722.4(TP63):c.727C>T (p.Arg243Trp)	TP63	Aug 26, 2016	MedGen:C1858562,OMIM:604292;MedGen:CN517202	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;not provided	germline;unknown	3	189864379	AAAGCTGAGCACGTCACGGAGGTGGTGAAGCGGTGCCCCAACCATGAGCTGAGCCGTGAAT
193302848	34565	NM_032520.4(GNPTG):c.196C>T (p.Arg66Ter)	GNPTG	Jul 05, 2012	MedGen:C1854896,OMIM:252605,Orphanet:ORPHA423470	Mucolipidosis III Gamma	not provided	16	1361760	AGGTCTCTTCCAGGACCCGTGCATCTCTTCCGACTCTCGGGCAAGTGCTTCAGCCTGGTGG
121912290	47560	NM_001363.4(DKC1):c.949C>T (p.Leu317Phe)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154770792	AATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCA
121918151	15706	NM_000312.3(PROC):c.866C>T (p.Pro289Leu)	PROC	Aug 31, 1991	MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127428426	ACCTGGACATCAAGGAGGTCTTCGTCCACCCCAACTACAGCAAGAGCACCACCGACAATGA
730882050	181165	NM_144988.3(ALG14):c.194C>T (p.Pro65Leu)	ALG14	Feb 18, 2015	MedGen:C4015596,OMIM:616227	Myasthenic syndrome, congenital, 15	germline	1	95064960	TGCTTGGGAGCTTGTCCAATGCCTACTCACCTAGACATTATGTCATTGCTGACACTGATGA
267606865	15128	NM_021828.4(HPSE2):c.457C>T (p.Arg153Ter)	HPSE2	Jun 11, 2010	MedGen:C0403555,OMIM:236730,SNOMED CT:236533008	Ochoa syndrome	germline	10	99144391	CCTTCTTTCTTTCTTTTTGTAGACATTGTTCGAAGTGATGTTGCCTTAGATAAACAGAAAG
119479065	20015	NM_022436.2(ABCG5):c.1222C>T (p.Arg408Ter)	ABCG5	Jan 01, 2001	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43824015	TTGTTCCTCCTTTTCTTCGTTCTGCGGGTCCGAAGCAATGTGCTAAAGGGTGCTATCCAGG
786202457	184747	NM_001042492.2(NF1):c.7348C>T (p.Arg2450Ter)	NF1	Apr 28, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009737,MedGen:C1860334;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;Human Phenotype Ontology:HP:0100698,MedGen:C1827970;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lisch nodules;Neurofibromatosis, type 1;Subcutaneous neurofibromas;not provided	germline;unknown	17	31350209	TTAGCTTTACTTACAGTGTCTGAAGAAGTTCGAAGTCGCTGCAGCCTAAAACATAGAAAGT
-1	445025	NM_003482.3(KMT2D):c.8059C>T (p.Arg2687Ter)	KMT2D	Sep 01, 2017	MedGen:CN517202	not provided	germline	12	49039605	TCTCTTTTTTTTGCATAGCGCCAGCGACTACGAGAGCTGCTGATTCGGCAGCAGATCCAGC
1131690813	420605	NM_004360.4(CDH1):c.2311C>T (p.Gln771Ter)	CDH1	Apr 14, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68829669	CTTTTTTCTCCAAAGGACTTTGACTTGAGCCAGCTGCACAGGGGCCTGGACGCTCGGCCTG
397516456	52796	NM_000364.3(TNNT2):c.304C>T (p.Arg102Trp)	TNNT2	Aug 23, 2017	MedGen:C1861864,OMIM:115195;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided	germline	1	201365298	GCCGCAGCGGTCCACCCACAGGACATCCACCGGAAGCGCATGGAGAAGGACCTGAATGAGT
267606876	18587	NM_016247.3(IMPG2):c.2716C>T (p.Arg906Ter)	IMPG2	Aug 13, 2010	MedGen:C3150819,OMIM:613581	Retinitis pigmentosa 56	germline	3	101243615	TCAGGAGCTTTGGTGGTTTTCTTCAGCCTCCGAGTGACTAACATGATGTTTTCAGAAGATC
137853167	25593	NM_000351.5(STS):c.1022C>T (p.Ser341Leu)	STS	Aug 15, 1997	MedGen:C0079588,OMIM:308100,Orphanet:ORPHA281210,SNOMED CT:72523005	X-linked ichthyosis with steryl-sulfatase deficiency	germline	X	7305109	TGGCTAATGATACCCTCATCTACTTCACATCGGACCAGGGAGCACATGTAGAAGAAGTGTC
587777408	137032	NM_021008.3(DEAF1):c.670C>T (p.Arg224Trp)	DEAF1	May 01, 2014	MedGen:C4014414,OMIM:615828	Mental retardation, autosomal dominant 24	germline	11	686992	TCATGACTGCTGCCCTTCCTTGCAGGCGGCCGGGGACGGTGCATCAAGCAGGGGGAGAACT
1064793817	410973	NM_007194.3(CHEK2):c.28C>T (p.Gln10Ter)	CHEK2	Jul 07, 2015	MedGen:CN517202	not provided	germline	22	28734694	GTGATGTCTCGGGAGTCGGATGTTGAGGCTCAGCAGTCTCATGGCAGCAGTGCCTGTTCAC
730882001	181011	NM_000546.5(TP53):c.493C>T (p.Gln165Ter)	TP53	Jan 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	7675119	ACCCGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACATGACGGAGGTTGTGAGGC
1085307429	414411	NM_000020.2(ACVRL1):c.1468C>T (p.Q490*)	ACVRL1	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51920849	CTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAACAGTCCAGAGAAGCCTA
483352910	51367	NM_005984.4(SLC25A1):c.821C>T (p.Ala274Val)	SLC25A1	Apr 29, 2013	MedGen:C2746066,OMIM:615182,Orphanet:ORPHA19	Combined d-2- and l-2-hydroxyglutaric aciduria	germline	22	19176421	TGCAGATCCTGAAGAAGGAGGGGCTCAAGGCGTGAGTGGGGGAGGGGCAGGGCTATTGTCC
869312753	226318	NM_000038.5(APC):c.562C>T (p.Gln188Ter)	APC	Nov 20, 2015	MedGen:C1858438;MedGen:CN240755	Colorectal cancer, susceptibility to;Familial adenomatous polyposis	germline	5	112780820	TTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAG
104895105	17596	NM_000243.2(MEFV):c.1432C>T (p.His478Tyr)	MEFV	Jan 01, 2004	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:C1851347,OMIM:134610	Familial Mediterranean fever;Familial mediterranean fever, autosomal dominant	germline	16	3247171	CAGGTGTACTACTTCCTGGAGCAGCAAGAGCATTTCTTTGTGGCCTCACTGGAGGACGTGG
515726208	136367	NM_003122.4(SPINK1):c.199C>T (p.Arg67Cys)	SPINK1	Mar 13, 2014	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	5	147824702	TATATTTTTTTTAATCTCTACTGCAGGAAACGCCAGACTTCTATCCTCATTCAAAAATCTG
398123789	100230	NM_003494.3(DYSF):c.4756C>T (p.Arg1586Ter)	DYSF	Sep 16, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71658995	CAGGAGTGCTTGGTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCA
397517327	55094	NM_022124.5(CDH23):c.3706C>T (p.Arg1236Ter)	CDH23	Jun 30, 2015	MedGen:C1832845,OMIM:601067;MedGen:CN517202	Usher syndrome, type 1D;not provided	germline	10	71730595	ACGTCAGTCATCGTGGTCCAAGCCACAGACCGAGACTCTGGTGAGGCTGGCAGGAGGAAGC
199804679	94238	NM_016204.3(GDF2):c.254C>T (p.Pro85Leu)	GDF2	Sep 05, 2013	MedGen:C3809710,OMIM:615506	Telangiectasia, hereditary hemorrhagic, type 5	germline	10	47322922	TCCCTTCGCAGGACAAAACCAGGGTGGAGCCGCCGCAGTACATGATTGACCTGTACAACAG
121913061	31599	NM_000186.3(CFH):c.1222C>T (p.Gln408Ter)	CFH	Feb 01, 2008	MedGen:C0730295,OMIM:126700,SNOMED CT:312926005	Basal laminar drusen	germline	1	196690125	TATAATCAAAATCATGGAAGAAAGTTTGTACAGGGTAAATCTATAGACGTTGCCTGCCATC
63750037	96605	NM_000251.2(MSH2):c.547C>T (p.Gln183Ter)	MSH2	Jul 19, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47410274	CTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCC
104894790	26312	NM_004006.2(DMD):c.10141C>T (p.Arg3381Ter)	DMD	Jan 16, 2017	MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;not provided	germline	X	31178751	GACTTTGCCAAGGTACTAAAAAACAAATTTCGAACCAAAAGGTATTTTGCGAAGCATCCCC
137852770	23768	NM_000182.4(HADHA):c.1132C>T (p.Gln378Ter)	HADHA	Nov 10, 2010	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Mitochondrial trifunctional protein deficiency	germline	2	26204150	GGTGCAGGGCTGATGGGAGCAGGCATCGCCCAAGTCTCCGTGGATAAGGGGCTAAAGACTA
193922920	39289	NM_007317.2(KIF22):c.442C>T (p.Pro148Ser)	KIF22	Dec 09, 2011	MedGen:C1863732,OMIM:603546,Orphanet:ORPHA93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	germline	16	29798640	CTGGGCAGCCCAGAGCAACCTGGGGTGATCCCGCGGGCTCTCATGGACCTCCTGCAGCTCA
878854364	226480	NM_000070.2(CAPN3):c.439C>T (p.Arg147Ter)	CAPN3	Jan 15, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A;Limb-girdle muscular dystrophy, type 2A	germline;inherited	15	42386226	TGCCTGACCCTGAACCAGCACCTTCTTTTCCGAGTCATACCCCATGATCAAAGTTTCATCG
267607138	20547	NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)	TRIP11	Jan 21, 2010	MedGen:C0265273,OMIM:200600,Orphanet:ORPHA93299,SNOMED CT:42725006	Achondrogenesis, type IA	germline	14	92015729	CATCGAGAAGAATTAAGTGACTATGAAGAACGAATTGAAGAACTTGAAAATCTGTTACAAC
122445106	26778	NM_000489.4(ATRX):c.4862C>T (p.Thr1621Met)	ATRX	Jul 01, 2002	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	germline	X	77633660	TTCTTTTGTGTGACAAACTGGATTTCAGCACGGCGTTAGTGGTTTGTCCTCTTAATACTGC
-1	437824	NM_000702.3(ATP1A2):c.1261C>T (p.Arg421Ter)	ATP1A2	Jul 19, 2017	MedGen:C0338484,Orphanet:ORPHA569,SNOMED CT:95656000;MedGen:CN517202	Familial hemiplegic migraine;not provided	germline	1	160129024	AAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCT
778555849	212489	NM_005732.3(RAD50):c.3553C>T (p.Arg1185Ter)	RAD50	Jan 20, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C2751318,OMIM:613078,Orphanet:ORPHA240760	Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder	germline	5	132638158	GCTTCTGATAAAAGGCGGAATTATAACTACCGAGTGGTGATGCTGAAGGGAGACACAGCCT
137852906	17931	NM_000419.4(ITGA2B):c.1750C>T (p.Arg584Ter)	ITGA2B	Jun 15, 1992	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44380004	CCCATCTGCCACACCACCATGGCCTTCCTTCGAGTACGCCCAGGCAGGGGATTGGCAGGGC
-1	453838	NM_000038.5(APC):c.697C>T (p.Gln233Ter)	APC	Apr 24, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112792497	CAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAG
-1	439855	NM_031844.2(HNRNPU):c.481C>T (p.Gln161Ter)	HNRNPU	Aug 09, 2017	MedGen:CN240910,OMIM:617391	Epileptic encephalopathy, early infantile, 54	germline	1	244863827	GGCGCGGGCGACGAGAACGGGCACGGGGAGCAGCAGCCTCAACCGCCGGCGACGCAGCAGC
606231290	167477	NM_001302946.1(TRNT1):c.461C>T (p.Thr154Ile)	TRNT1	Nov 12, 2014	MedGen:C4015172,OMIM:616084,Orphanet:ORPHA369861	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	germline	3	3140628	GGCAGAAAGATGCGGAACGCAGAGATCTCACTATAAATTCTATGTTTTTAGGTAATATTTG
267607101	20250	NM_015093.5(TAB2):c.622C>T (p.Pro208Ser)	TAB2	Jun 11, 2010	MedGen:C3150216,OMIM:614980	Congenital heart defects, multiple types, 2	germline	6	149378537	CATGGTGTACCTCCACCTGTACTTAACAGTCCACAGGGAAATTCTATCTATATTAGGCCTT
121917784	27085	NM_000136.2(FANCC):c.37C>T (p.Gln13Ter)	FANCC	Sep 22, 2016	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002;MedGen:C3468041,OMIM:227645;MedGen:CN517202	Fanconi anemia;Fanconi anemia, complementation group C;not provided	germline;unknown	9	95249255	CAAGATTCAGTAGATCTTTCTTGTGATTATCAGTTTTGGATGCAGAAGCTTTCTGTATGGG
397514478	40274	NM_001160223.1(RNF170):c.595C>T (p.Arg199Cys)	RNF170	May 29, 2015	MedGen:C1837015,OMIM:608984	Ataxia, sensory, autosomal dominant	germline	8	42856341	TTTTCAGTCGGGGGCCTTTTCTGGATGTTTCGCATCAGGATAATACTTTGTTTAATGGGAG
77101217	22146	NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117559548	AAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGCACCATTA
-1	441526	NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys)	HNF1A	Jul 18, 2017	MedGen:CN517202	not provided	germline	12	120994264	GTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGG
764735889	445901	NM_000546.5(TP53):c.949C>T (p.Gln317Ter)	TP53	Jul 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	7673579	GCACTGCCCAACAACACCAGCTCCTCTCCCCAGCCAAAGAAGAAACCACTGGATGGAGAAT
267607086	27882	NM_001355436.1(SPTB):c.5266C>T (p.Arg1756Ter)	SPTB	Aug 01, 2009	MedGen:C2674219,OMIM:616649	Spherocytosis type 2	germline	14	64772867	CGGGTGGACAATGTGAATGCCTTCATCGAGCGACTCATCGACGCGGGCCACAGCGAGGCGG
587779865	132902	NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter)	ATM	Nov 06, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108330362	AGTGGAGAAGAACATGATATGTGGGTATTCCGACTTTGTTCCCTCTGGCTTGAAAATTCTG
375088539	185943	NM_001253815.1(SLC52A2):c.808C>T (p.Gln270Ter)	SLC52A2	Jul 15, 2015	MedGen:C3553538,OMIM:614707;MedGen:CN517202	Brown-Vialetto-Van Laere syndrome 2;not provided	germline	8	144360300	ACCACCCCTGGTCCAGACCCTAAGGCCTATCAGCTTCTATCAGCCCGCAGTGCCTGCCTGC
376764423	175522	NM_000260.3(MYO7A):c.5899C>T (p.Arg1967Ter)	MYO7A	Nov 10, 2016	MedGen:C1838701,OMIM:600060;MedGen:CN239407;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Deafness, autosomal recessive 2;MYO7A-Related Disorders;Retinal dystrophy;Usher syndrome, type 1	germline;unknown	11	77208472	CCTGAGAATGACTTCTTCTTTGACTTTGTTCGACACTTGACAGACTGGATAAAGAAAGCTC
104886094	35708	NM_000495.4(COL4A5):c.1117C>T (p.Arg373Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108586699	TTGCCTGGGTTGCCTGGAGAAAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTG
180177191	200422	NM_000030.2(AGXT):c.28C>T (p.Pro10Ser)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240868893	ACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCA
1135402725	171910	NM_003477.2(PDHX):c.1336C>T (p.Arg446Ter)	PDHX	Dec 09, 2017	MedGen:C1855553,OMIM:245349,Orphanet:ORPHA255182	Pyruvate dehydrogenase E3-binding protein deficiency	germline;inherited	11	34995002	CAGGCCTGCATTTTGGCGGTTGGGAGGTTCCGACCTGTGCTGAAGCTCACTGAGGATGAAG
1057520737	379501	NM_002547.2(OPHN1):c.1246C>T (p.Gln416Ter)	OPHN1	May 15, 2015	MedGen:CN517202	not provided	germline	X	68192949	GGGTTGTACCGCACTGTGGGCAGCAATATTCAGGTTCAGAAGCTGCTGAATGCCTTTTTTG
386834080	71297	NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter)	VPS13B	Dec 08, 2016	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99442617	CCTCTGCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTATATGTTAAC
137853154	20357	NM_170784.2(MKKS):c.442C>T (p.Gln148Ter)	MKKS	Sep 21, 2001	MedGen:C4016908	Bardet-biedl syndrome 2/6, digenic	germline	20	10413073	TGTCGAATCCCAGTGGACTTTAGTAGTACTCAGATCCTCCTTTGTTTGGTGCGTAGTATAT
121907944	19074	NM_000152.4(GAA):c.710C>T (p.Ala237Val)	GAA	Jan 25, 2005	MedGen:CN568813	Glycogen storage disease II, adult form	germline	17	80107574	CTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCA
886041771	265035	NM_001456.3(FLNA):c.4519C>T (p.Gln1507Ter)	FLNA	May 23, 2016	MedGen:CN517202	not provided	germline	X	154358524	GTGGACGTGGTAGACAACGCTGATGGCACCCAGACCGTCAATTATGTGCCCAGCCGAGAAG
875989787	227581	NM_001198868.1(CAPN1):c.1579C>T (p.Gln527Ter)	CAPN1	May 09, 2016	MedGen:C4310800,OMIM:616907	Spastic paraplegia 76, autosomal recessive	germline	11	65206793	CTCCCCACTCTCTGCAGGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGGTGC
121912849	32495	NM_000094.3(COL7A1):c.6187C>T (p.Arg2063Trp)	COL7A1	Apr 03, 2015	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;MedGen:CN517202	Recessive dystrophic epidermolysis bullosa;not provided	germline	3	48575236	CCTCACCCGCTATTTGCATTTCAGGGAGAACGGGGAGAGAAAGGAGAACGTGGAGAACAGG
376023420	40087	NM_000196.3(HSD11B2):c.664+14C>T	HSD11B2	Aug 01, 1995	MedGen:C2936861,OMIM:218030	Apparent mineralocorticoid excess	germline	16	67436156	TGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGT
113993996	34393	NM_016038.3(SBDS):c.505C>T (p.Arg169Cys)	SBDS	Jul 17, 2008	MedGen:C0272170,OMIM:260400,Orphanet:ORPHA811,SNOMED CT:89454001	Shwachman syndrome	not provided	7	66991256	AAGCAGTTAAAAGAGAAAATGAAGATAGAACGTGCTCACATGAGGCTTCGGTTCATCCTTC
1057519599	362483	NM_001198903.1(YY1AP1):c.664C>T (p.Gln222Ter)	YY1AP1	Feb 14, 2017	MedGen:C1865267,OMIM:602531,Orphanet:ORPHA79094	Grange syndrome	germline	1	155676622	CAGCAGAAGGAGGTAGAGAAGGTTAAACCCCAGTGTAAGGAAGTTCATCAGACCCTGATTC
119462985	18284	NM_007171.3(POMT1):c.1540C>T (p.Arg514Ter)	POMT1	Mar 20, 2014	MedGen:C3150415,OMIM:613155;MedGen:CN033898,OMIM:236670	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	germline	9	131518945	GGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGC
45517169	58315	NM_000548.4(TSC2):c.1372C>T (p.Arg458Ter)	TSC2	May 26, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2062982	AGCAGGCTGCCGTCCCGCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACG
61748477	15333	NM_000552.4(VWF):c.2372C>T (p.Thr791Met)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282975,Orphanet:ORPHA166093,SNOMED CT:359732009	not provided;von Willebrand disease type 2N	germline	12	6044361	TGCGGGCTGAAGGGCTCGAGTGTACCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAG
398123157	98349	NM_000117.2(EMD):c.355C>T (p.Gln119Ter)	EMD	Jan 17, 2013	MedGen:CN517202	not provided	germline	X	154380323	GAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACG
28936699	22804	NM_032977.3(CASP10):c.1241C>T (p.Ala414Val)	CASP10	Jun 01, 2002	Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004	Malignant lymphoma, non-Hodgkin	somatic	2	201209388	AAGAGATACAGCCTTCCGTATCCATCGAAGCAGATGCTCTGAACCCTGAGCAGGCACCCAC
587777169	106654	NM_012414.3(RAB3GAP2):c.3637C>T (p.Arg1213Ter)	RAB3GAP2	May 01, 2013	MedGen:C3280214,OMIM:614225	Warburg micro syndrome 2	germline	1	220153976	GGGGAAATGGATCCAAATTTTATTTCTGTACGACAACAGGTAAATTATAGCTATTGGATTT
63751460	95313	NM_000249.3(MLH1):c.1684C>T (p.Gln562Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37042284	ATTTTTATTTTCAGTGAAGAACTGTTCTACCAGATACTCATTTATGATTTTGCCAATTTTG
179363901	26884	NM_001110792.1(MECP2):c.5C>T (p.Ala2Val)	MECP2	Apr 26, 2016	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	de novo;germline	X	154097661	GGGCTGTGGTAAAAGCCGTCCGGAAAATGGCCGCCGCCGCCGCCGCCGCGCCGAGCGGAGG
-1	434421	NM_001001563.3(TIMM50):c.755C>T (p.Thr252Met)	TIMM50	Oct 03, 2017	MedGen:CN510468,OMIM:617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	germline	19	39485761	TGCAGGAACCGTACTACCAGCCACCCTACACGCTCGTTTTGGAGCTCACCGGCGTCCTCTT
119472026	19101	NM_014080.4(DUOX2):c.1300C>T (p.Arg434Ter)	DUOX2	Jul 11, 2002	MedGen:C1846632,OMIM:607200	Thyroid dyshormonogenesis 6	germline	15	45108887	GACTATGTGGCCAGCAGCATCCAACGTGGCCGAGATATGGGGCTGCCCAGCTATAGCCAGG
398123872	100389	NM_004006.2(DMD):c.2032C>T (p.Gln678Ter)	DMD	Oct 05, 2012	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32545295	GCTGTCACCACCACTCAGCCATCACTAACACAGACAACTGTAATGGAAACAGTAACTACGG
886039668	260212	NM_001127221.1(CACNA1A):c.1363C>T (p.Arg455Ter)	CACNA1A	Jun 13, 2016	MedGen:CN517202	not provided	germline	19	13317307	ATCTTTTCCCTGGCAGGTTCTCCCTTCGCCCGAGCCAGCATTAAAAGTGCCAAGCTGGAGA
199472906	78094	NM_000238.3(KCNH2):c.1421C>T (p.Thr474Ile)	KCNH2	Oct 10, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150952561	TTGTGGACATCCTCATCAACTTCCGCACCACCTACGTCAATGCCAACGAGGAGGTGGTCAG
587778869	132328	NM_000321.2(RB1):c.103C>T (p.Gln35Ter)	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48304015	CCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGCCCGGAGGACCTGCCTCTCG
143739249	59802	NM_201647.3(STAMBP):c.112C>T (p.Arg38Cys)	STAMBP	Jun 14, 2015	MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016;MedGen:CN517202	Microcephaly-capillary malformation syndrome;not provided	germline	2	73830968	AATGAAGACATTCCACCCCGTCGGTACTTCCGCTCTGGAGTTGAGATTATCCGAATGGCAT
-1	481792	NM_015570.3(AUTS2):c.946C>T (p.Arg316Ter)	AUTS2	Jun 27, 2017	MedGen:CN517202	not provided	germline	7	70763073	ATACCCCAGCCGCAGACGGAGCCCCAACTCCGAGCTCCTTCTCCGGACCCTGACTTGGTGC
796065342	204573	NM_175629.2(DNMT3A):c.1204C>T (p.Gln402Ter)	DNMT3A	-	MedGen:CN232350	Early T cell progenitor acute lymphoblastic leukemia	somatic	2	25246695	GAGAGTGACACTGCCAAGGCCGTGGAGGTGCAGAACAAGCCCATGATTGAATGGGCCCTGG
863225440	214791	NM_025137.3(SPG11):c.592C>T (p.Gln198Ter)	SPG11	Nov 10, 2015	MedGen:C4225253,OMIM:616668,Orphanet:ORPHA466775	Charcot-Marie-Tooth disease, axonal type 2X	germline	15	44659154	CTCAACTGTTTCACACTTCCCTTGCCTGCACAGGCAGTGGACATGATTATTGACACGCAGC
794726841	187762	NM_001165963.1(SCN1A):c.3818C>T (p.Ala1273Val)	SCN1A	Apr 06, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166012170	TCATTCTGGAAATGCTTCTAAAATGGGTGGCATATGGCTATCAAACATATTTCACCAATGC
137852354	25124	NM_000132.3(F8):c.6976C>T (p.Arg2326Ter)	F8	May 30, 1985	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154837677	CTAGACCCACCGTTACTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGGTGCACCAGA
753432312	419010	NM_025139.5(ARMC9):c.1336C>T (p.Arg446Cys)	ARMC9	Aug 16, 2017	MedGen:CN262509;MedGen:CN399089,OMIM:617622	ARMC9-related Joubert syndrome;JOUBERT SYNDROME 30	germline;maternal	2	231276637	TGTATTTACCGTAGGCTCTTTCTTCCCAGGCGCCCGCTGCAGACAGCGATGATTCAAGACG
45517414	58529	NM_000548.4(TSC2):c.5254C>T (p.Gln1752Ter)	TSC2	Dec 20, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2088320	GCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGC
122445108	26781	NM_000489.4(ATRX):c.109C>T (p.Arg37Ter)	ATRX	Nov 06, 2014	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C4016452	ATR-X syndrome;Intellectual disability;Mental retardation-hypotonic facies syndrome, X-linked	germline;maternal	X	77717155	GAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAGGTAAAT
786204981	187628	NM_003159.2(CDKL5):c.2704C>T (p.Gln902Ter)	CDKL5	May 15, 2014	MedGen:C2748910,Orphanet:ORPHA3095	Atypical Rett syndrome	de novo	X	18628578	GAACCCGCACCGAAGGGCAGGCCAGCCCTCCAGCTGCCAGGTCAGATGGATCCTGGTTGGC
-1	443692	NM_005859.4(PURA):c.487C>T (p.Gln163Ter)	PURA	Sep 15, 2017	MedGen:CN517202	not provided	germline	5	140114668	CGCAAGTACTACATGGATCTCAAGGAGAACCAGCGCGGCCGCTTCCTGCGCATCCGCCAGA
137852694	24019	NM_001079668.2(NKX2-1):c.745C>T (p.Gln249Ter)	NKX2-1	Dec 01, 2005	MedGen:C0393584,OMIM:118700,SNOMED CT:230306001	Benign hereditary chorea	germline	14	36517739	TTCCAGAACCACCGCTACAAAATGAAGCGCCAGGCCAAGGACAAGGCGGCGCAGCAGCAAC
121908457	20874	NM_006790.2(MYOT):c.164C>T (p.Ser55Phe)	MYOT	Mar 19, 2014	MedGen:C1834659,OMIM:159000,Orphanet:ORPHA266;MedGen:C1836607,OMIM:609200;Human Phenotype Ontology:HP:0009063,MedGen:C1836609;Human Phenotype Ontology:HP:0009073,MedGen:C1836156	Limb-girdle muscular dystrophy, type 1A;Myotilinopathy;Progressive distal muscle weakness;Progressive proximal muscle weakness	germline;unknown	5	137870815	GCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTCTCACATCACCATGTC
886041635	264023	NM_015215.3(CAMTA1):c.4231C>T (p.Arg1411Ter)	CAMTA1	Mar 09, 2016	MedGen:CN517202	not provided	germline	1	7744883	GCAGAACACATTATTGAAGCCACACCTGACCGAATCAAGCAGGAGAATTTTGTGCCCATGG
121918130	15439	NM_019892.5(INPP5E):c.1132C>T (p.Arg378Cys)	INPP5E	Sep 01, 2009	MedGen:CN119531,OMIM:213300	Joubert syndrome 1	germline	9	136433182	CACGGCGTGCTCTACATGTCGCTCTTCATCCGCAGGGACCTCATCTGGTTCTGCTCAGGTG
121965032	26964	NM_000203.4(IDUA):c.1091C>T (p.Thr364Met)	IDUA	Nov 15, 2016	MedGen:C0023786,Orphanet:ORPHA579;MedGen:C0086431,OMIM:607015,Orphanet:ORPHA93476,SNOMED CT:26745009	Mucopolysaccharidosis type I;Mucopolysaccharidosis, MPS-I-H/S	germline	4	1002387	GCTACCACCCGCACCCCTTCGCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACAC
-1	459193	NM_000093.4(COL5A1):c.3805C>T (p.Gln1269Ter)	COL5A1	Jul 18, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009	Ehlers-Danlos syndrome, classic type	germline	9	134812665	CCCTCCGGAGCTCCAGGTGCTGATGGCCCACAAGGTCCCCCAGGTGGAATAGGAAACCCTG
864622774	222913	NM_000202.7(IDS):c.469C>T (p.Pro157Ser)	IDS	Jun 24, 2013	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149500987	GATGATTCTCCGTATAGCTGGTCTTTTCCACCTTATCATCCTTCCTCTGAGAAGTATGAAA
772174079	208809	NM_020461.3(TUBGCP6):c.2356C>T (p.Arg786Ter)	TUBGCP6	May 29, 2015	MedGen:CN233046	Microcephaly and chorioretinopathy with or without mental retardation	germline	22	50222507	CAGAAGGCACTGTGGAGAATCCAGAGGCACCGACTGGAGAGTGCACGGCTTCGTTTTCTCT
786205700	188292	NM_032957.4(RTEL1):c.1523C>T (p.Pro508Leu)	RTEL1	May 01, 2015	MedGen:C4225346,OMIM:616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	germline	20	63687740	CCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGAT
869025395	224332	NM_004415.3(DSP):c.5851C>T (p.Arg1951Ter)	DSP	Jun 08, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1843896,OMIM:607450;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided	germline	6	7583113	AAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCG
121908853	21519	NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter)	DNAH5	Feb 01, 2002	MedGen:C1837618,OMIM:608644	Ciliary dyskinesia, primary, 3	germline	5	13901476	ATTGATATGATTTCAAAGCTGTATACAAAGCAGAAATACGATCCTCCTCTGGCTCGAAACC
1057516028	353883	NM_004006.2(DMD):c.6139C>T (p.Gln2047Ter)	DMD	-	Human Phenotype Ontology:HP:0003236,MedGen:C0241005,OMIM:123320	Creatine phosphokinase, elevated serum	unknown	X	32287680	ATATTACAGAATATAAAAGATAGTCTACAACAAAGCTCAGGTCGGATTGACATTATTCATA
180177083	132139	NM_024675.3(PALB2):c.196C>T (p.Gln66Ter)	PALB2	Aug 15, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	16	23637865	GATTGTTTGTCTCAGCAGGATCTCTCACCGCAGCTAAAACACTCAGGTAAATCTAGACCAT
121908881	21494	NM_000369.2(TSHR):c.1430C>T (p.Thr477Ile)	TSHR	Mar 01, 2000	MedGen:C3493776,OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1	germline	14	81143488	TGCTCCTCATCGCCTCTGTAGACCTCTACACTCACTCTGAGTACTACAACCATGCCATCGA
797046139	209380	NM_002230.2(JUP):c.1615C>T (p.Gln539Ter)	JUP	May 01, 2011	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217	Naxos disease	germline	17	41758753	CAACTGCTGGTGAAGGCCCACCAGGATGCCCAGCGCCACGTAGCTGCAGGCACACAGCAGC
1060502414	399939	NM_000059.3(BRCA2):c.2590C>T (p.Gln864Ter)	BRCA2	May 16, 2017	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	13	32336945	AACACAAATCTAAGAGTAATCCAAAAAAATCAAGAAGAAACTACTTCAATTTCAAAAATAA
-1	432330	NM_015272.4(RPGRIP1L):c.118C>T (p.Gln40Ter)	RPGRIP1L	Apr 20, 2017	MedGen:C1969053,OMIM:611560	Joubert syndrome 7	germline	16	53696263	ACTTCAACAACACGGACAATGAAGTCTCGCCAGGCAGTGTCACGTGTCAGTCGTGAGGAAC
201114717	76773	NM_000784.3(CYP27A1):c.379C>T (p.Arg127Trp)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218809700	GTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACC
765086319	205295	NM_024306.4(FA2H):c.565C>T (p.Arg189Ter)	FA2H	Oct 02, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	16	74726273	CTGGTGCTGTATCTCAGCTGGTCCTACTACCGAACCTTTGCCCAGGGCAACGTCCGACTCT
-1	481574	NM_018136.4(ASPM):c.9961C>T (p.Gln3321Ter)	ASPM	Jan 12, 2018	MedGen:CN517202	not provided	germline	1	197089953	CCTTGTATGGAAGTCATCAGATATGCTGTGCAAGTCTTGCTTAATGTATCTAAGGTAGTTT
132630294	26131	NM_001128834.2(PLP1):c.509C>T (p.Ser170Phe)	PLP1	Feb 17, 1998	MedGen:C1839264,OMIM:312920,Orphanet:ORPHA99015	Spastic paraplegia 2	germline	X	103787853	CCGTTGTGTGGCTCCTGGTGTTTGCCTGCTCTGCTGTGCCTGTGTACATTTACTTCAACAC
1057520650	372254	NM_004572.3(PKP2):c.1147C>T (p.Gln383Ter)	PKP2	May 04, 2015	MedGen:CN517202	not provided	germline	12	32868950	GCAGCTACTTTCATACAGCACGAGTGCTTCCAGAAATCTGAAGCTCGGAAGAGGGTGAGTG
28936401	23288	NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp)	ACVRL1	Jul 24, 2017	MedGen:C1838163,OMIM:600376;MedGen:C1832529;MedGen:CN517202;MedGen:CN169374	Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not provided;not specified	germline	12	51916107	ATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGC
876659354	466443	NM_024675.3(PALB2):c.1702C>T (p.Gln568Ter)	PALB2	Feb 15, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	16	23630452	TTTTCTTCTTTAGGGAAGAAAAGTCGTCATCAAAAAGAGGATTCCCTTTCTTGGAGTAATA
121908592	28510	NM_002234.3(KCNA5):c.1727C>T (p.Ala576Val)	KCNA5	May 01, 2009	MedGen:C2677106,OMIM:612240	Atrial fibrillation, familial, 7	germline	12	5045874	CTGGGGGGACCCTGGAGAATGCAGACAGTGCCCGAAGGGGCAGCTGCCCCCTAGAGAAGTG
119103267	17319	NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp)	MFN2	Aug 15, 2017	MedGen:C4310725,OMIM:617087;MedGen:CN043576;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A;not provided	germline	1	12009641	GCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCA
113298164	29490	NM_000236.2(LIPC):c.1214C>T (p.Thr405Met)	LIPC	Aug 01, 2003	MedGen:C3151466,OMIM:614025,Orphanet:ORPHA140905	Hepatic lipase deficiency	germline	15	58563549	CTAGTAATAAAACGTATTCCTTTCTTATCACGCTGGATGTGGATATCGGCGAGCTGATCAT
267606953	33461	NM_016341.3(PLCE1):c.6448C>T (p.Arg2150Ter)	PLCE1	Jul 01, 2010	MedGen:C1853124,OMIM:610725	Nephrotic syndrome, type 3	germline	10	94322006	CAAGTGCATGATGTTTCTCCAGAGCAACCTCGAACAGTCATCAAAGCACCCCGCGTCAGCA
28937598	20719	NM_001169109.1(SCO2):c.511C>T (p.Arg171Trp)	SCO2	Mar 22, 2000	MedGen:C1858424,OMIM:604377,Orphanet:ORPHA1561	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	germline	22	50523901	CAGCCTGTCTTCATCACTGTGGACCCCGAGCGGGACGACGTTGAAGCCATGGCCCGCTACG
121912569	23606	NM_000901.4(NR3C2):c.2839C>T (p.Arg947Ter)	NR3C2	Sep 01, 2006	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline	4	148081460	GACCTGCTGGAATTCTGCTTCTACACCTTCCGAGAGTCCCATGCGCTGAAGGTAGAGTTCC
387906930	39513	NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)	WFS1	Oct 13, 2017	MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009;MedGen:C1857286,OMIM:614296,Orphanet:ORPHA411590;MedGen:CN517202	Diabetes mellitus AND insipidus with optic atrophy AND deafness;Wolfram-like syndrome, autosomal dominant;not provided	de novo;germline;unknown	4	6301846	GGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGA
61752103	22813	NM_000286.2(PEX12):c.538C>T (p.Arg180Ter)	PEX12	Oct 25, 2012	MedGen:C3551381;MedGen:C3553929,OMIM:614859	Peroxisomal biogenesis disorder 3b;Peroxisome biogenesis disorder 3A	germline	17	35577180	TGGGAAGGATGGTTTCTTGTACAACAACTTCGATACATCCTAGGAAAAGCTCAGCATCACT
28942094	18456	NM_006147.3(IRF6):c.16C>T (p.Arg6Cys)	IRF6	Jul 13, 2016	Human Phenotype Ontology:HP:0000175,MedGen:C2240378;MedGen:C0175697,OMIM:119300,SNOMED CT:79261008;MedGen:CN517202	Cleft palate;Van der Woude syndrome;not provided	germline;unknown	1	209801398	TGACCCCCCCAGATCATGGCCCTCCACCCCCGCAGAGTCCGGCTAAAGCCCTGGCTGGTGG
-1	444291	NM_017780.3(CHD7):c.760C>T (p.Gln254Ter)	CHD7	Jul 03, 2017	MedGen:CN517202	not provided	germline	8	60742192	AGCATGGCACCTTCCTTGCGTCACTCGGTGCAGCAGTTCCATCACCACCCCTCTACTGCTC
-1	445963	NM_030632.2(ASXL3):c.4399C>T (p.Arg1467Ter)	ASXL3	Oct 09, 2017	MedGen:CN517202	not provided	germline	18	33744247	CCAGGGGGCTTTGCACCAGCAGCCATAAACCGATCAATTCCGTGTAAAGTCATCGTTGACC
121918457	28370	NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met)	PTPN11	Jul 19, 2017	MedGen:CN230736;Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:CN074218,OMIM:151100;MedGen:CN074218,OMIM:151100;MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:C0041409,OMIM:163950;MedGen:C0175704,Orphanet:ORPHA500;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Cardiovascular phenotype;Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome;Noonan syndrome 1;Noonan syndrome 1;Noonan syndrome with multiple lentigines;Rasopathy;not provided;not specified	germline;unknown	12	112488466	CCCGCAGTGCTGGAATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTATTGACAT
121908382	20337	NM_001128425.1(MUTYH):c.1213C>T (p.Pro405Ser)	MUTYH	Oct 11, 2011	Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007	Neoplasm of stomach	somatic	1	45331530	TCAGGTCTGCTGGCAGGACTGTGGGAGTTCCCGTCCGTGACCTGGGAGCCCTCAGAGCAGC
137852513	25043	NM_000216.3(ANOS1):c.769C>T (p.Arg257Ter)	ANOS1	Sep 01, 1992	MedGen:C1563719,OMIM:308700	Kallmann syndrome 1	germline	X	8585354	CGAGTTCAACTGACTGACATAAGACCCAGCCGATGGTACCAGTTTCGAGTGGCTGCTGTGA
397516291	52337	NM_000260.3(MYO7A):c.1963C>T (p.Gln655Ter)	MYO7A	Jan 27, 2012	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77174783	CAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCA
121917923	187846	NM_001165963.1(SCN1A):c.1072C>T (p.Pro358Ser)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166047725	GGATATATGTGTGTGAAAGCTGGTAGAAATCCCAATTATGGCTACACAAGCTTTGATACCT
864321657	217224	NM_001080517.2(SETD5):c.2302C>T (p.Arg768Ter)	SETD5	Nov 10, 2012	MedGen:C3810406,OMIM:615761,Orphanet:ORPHA404440	Mental retardation, autosomal dominant 23	germline	3	9448586	TTTGGCTCACCCTTTATCCCTGAGAGACGTCGAAGGCCCCTTCTGCCTGATGGCACATTCA
757499322	439489	NM_153223.3(CEP120):c.451C>T (p.Arg151Ter)	CEP120	Nov 06, 2017	MedGen:C4225378,OMIM:616300	Short-rib thoracic dysplasia 13 with or without polydactyly	germline	5	123412411	GATAGCTTTAAAGCAAAGGGGGCTCCCCCTCGAGATGGAAAAGGTTTGTGCATCATCTCTA
398122826	48280	NM_001164232.1(DDHD2):c.859C>T (p.Arg287Ter)	DDHD2	Jan 31, 2014	MedGen:C3539495,OMIM:615033,Orphanet:ORPHA320380	Spastic paraplegia 54, autosomal recessive	germline	8	38245752	ATTATTTTTCCTTTTTTCAGAGATCTGCAGCGAATAACCCTGCCCAGCATTAACCGCCTCA
121908848	21588	NM_003722.4(TP63):c.289C>T (p.Arg97Cys)	TP63	Apr 01, 2005	MedGen:C1854442,OMIM:605289	Split-hand/foot malformation 4	germline	3	189738739	AACAAGATTGAGATTAGCATGGACTGTATCCGCATGCAGGACTCGGACCTGAGTGACCCCA
104894581	23963	NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu)	KCNJ2	Aug 01, 2002	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000	Andersen Tawil syndrome;Congenital long QT syndrome	germline	17	70175596	TTGGCGCAGTCATGGCCAAGATGGCAAAGCCAAAGAAGAGAAACGAGACTCTTGTCTTCAG
80338853	21822	NM_001360.2(DHCR7):c.278C>T (p.Thr93Met)	DHCR7	Jun 09, 2017	Human Phenotype Ontology:HP:0012443,MedGen:C4021085;MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Abnormality of brain morphology;Smith-Lemli-Opitz syndrome;not provided	germline;inherited;unknown	11	71444036	CGGACATCTGGGCCAAGACTCCACCTATAACGAGGAAAGCCGCCCAGCTCTATACCTTGTG
727502869	172316	NM_004130.3(GYG1):c.970C>T (p.Arg324Ter)	GYG1	Dec 01, 2014	MedGen:C4015452,OMIM:616199,Orphanet:ORPHA456369	Polyglucosan body myopathy 2	germline	3	149026850	CCGTTTGTATCCTCGGAAGAACGGAAGGAACGATGGGAACAGGGCCAGGCTGATTATATGG
63750934	96714	NM_000251.2(MSH2):c.892C>T (p.Gln298Ter)	MSH2	Sep 11, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	2	47414368	CAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCA
121964878	27283	NM_004360.4(CDH1):c.1901C>T (p.Ala634Val)	CDH1	Jan 24, 2017	MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary diffuse gastric cancer	germline	16	68822190	CTCCCTTCACAGCAGAACTAACACACGGGGCGAGTGCCAACTGGACCATTCAGTACAACGA
886037767	217264	NM_198173.2(GRHL3):c.738C>T (p.Gly246=)	GRHL3	Dec 01, 2015	MedGen:CN234898	nonsyndromic cleft palate	de novo	1	24337687	CTCCCCCAAAGCCATCCACATCAAGTCAGGCGAGTCACCCATGGCCTACCTCAACAAAGGC
199422225	29271	NM_005006.6(NDUFS1):c.721C>T (p.Arg241Trp)	NDUFS1	Jun 01, 2001	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	2	206146919	CTAACCTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACAAGGTATCTTTTATTTT
387907269	45732	NM_152424.3(AMER1):c.811C>T (p.Gln271Ter)	AMER1	Sep 07, 2012	MedGen:C0432268,OMIM:300373,Orphanet:ORPHA2780,SNOMED CT:254129003	Osteopathia striata with cranial sclerosis	germline	X	64192476	CCCATGGAGGCCTGTGCCTCAGCACATGTGCAACCCAAGCCTGCCCCTGAAGCCAGTAGCC
137852248	25626	NM_000133.3(F9):c.880C>T (p.Arg294Ter)	F9	Apr 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561565	ATTGAGGAGACAGAACATACAGAGCAAAAGCGAAATGTGATTCGAATTATTCCTCACCACA
-1	482220	NM_004928.2(C21orf2):c.355C>T (p.Gln119Ter)	C21orf2	Jan 24, 2018	MedGen:CN517202	not provided	germline	21	44333051	ATGACCGTGCTGCGCACCCTGCCGCGCCTACAGAAGCTGGACAACCAGGGTAGGTGGCCGC
137852374	25186	NM_000132.3(F8):c.6955C>T (p.Pro2319Ser)	F8	Aug 01, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154837698	TTCACACCTGTGGTGAACTCTCTAGACCCACCGTTACTGACTCGCTACCTTCGAATTCACC
387906890	39385	NM_001199397.1(NEK1):c.379C>T (p.Arg127Ter)	NEK1	Apr 01, 2012	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	germline	4	169590743	AAACATGTACATGATAGAAAAATTCTTCATCGAGACATTAAATCTCAGGTATGTTATTCTG
118203728	58154	NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter)	TSC1	Mar 04, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1;Tuberous sclerosis syndrome	germline	9	132897544	CTAGAAAAAAACAGAAGCCATGTTCTCCAGCAGACTCAGAGGCTTGATACCTCCCAAAAAC
587777075	102585	NM_003327.3(TNFRSF4):c.193C>T (p.Arg65Cys)	TNFRSF4	Aug 26, 2013	MedGen:C3810053,OMIM:615593,Orphanet:ORPHA431149	Immunodeficiency 16	germline	1	1213738	CGCTGCAGCCGCTCCCAGAACACGGTGTGCCGTCCGTGCGGGCCGGGCTTCTACAACGACG
28934607	16700	NM_000785.3(CYP27B1):c.1144C>T (p.Pro382Ser)	CYP27B1	Mar 05, 1998	MedGen:C0268689,OMIM:264700,Orphanet:ORPHA289157,SNOMED CT:67049004	Vitamin D-dependent rickets, type 1	germline	12	57764169	CCATTTTGTGCTTTGCAACCTAGACTGTACCCTGTGGTACCTGGAAATTCTCGTGTCCCAG
121909219	22852	NM_000314.6(PTEN):c.697C>T (p.Arg233Ter)	PTEN	Oct 17, 2017	MedGen:C0265326,OMIM:153480,Orphanet:ORPHA109;MeSH:D015179,MedGen:CN236642;MedGen:CN072330,OMIM:158350;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202;MedGen:CN169374	Bannayan-Riley-Ruvalcaba syndrome;Colorectal Neoplasms;Cowden syndrome 1;Glioblastoma;Hereditary cancer-predisposing syndrome;Macrocephaly/autism syndrome;Neoplasm of the breast;Non-small cell lung cancer;PTEN hamartoma tumor syndrome;not provided;not specified	germline;somatic;unknown	10	87957915	AAGATATATTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCATGTACTTTGAGT
1060501464	394820	NM_001369.2(DNAH5):c.11725C>T (p.Arg3909Ter)	DNAH5	Oct 30, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13735167	CTTACCCTAAAGATTGACATCCAGAGGAACCGAGTCAAGCATGAAGAGTTTCTCACTCTTA
587777081	102931	NM_015662.2(IFT172):c.2716C>T (p.Gln906Ter)	IFT172	Feb 10, 2014	MedGen:C4017084	Short-rib thoracic dysplasia 10 without polydactyly	germline	2	27459449	TGGAAGAAGGCAATTTATATATTAGATCTACAGGACCGGAACACTGCATCCAAATACTATC
121912624	18621	NM_017662.4(TRPM6):c.166C>T (p.Arg56Ter)	TRPM6	Jun 01, 2002	MedGen:C1865974,OMIM:602014,Orphanet:ORPHA30924	Hypomagnesemia 1, intestinal	germline	9	74842330	TTGGTCTTGAATTTAAGGTGTTACTGTGGCCGACTGATTGGAGACCATGCTGGGATAGATT
387906782	39090	NM_053025.3(MYLK):c.4438C>T (p.Arg1480Ter)	MYLK	Nov 12, 2010	MedGen:C3151077,OMIM:613780	Aortic aneurysm, familial thoracic 7	germline	3	123647405	ATTTGCAGTGGGAAATTTGGACAGGTCTTTCGACTTGTAGAAAAGAAAACTCGAAAAGTCT
63750077	31046	NM_002087.3(GRN):c.373C>T (p.Gln125Ter)	GRN	Aug 24, 2006	MedGen:C1843792,OMIM:607485;MedGen:CN517202	Frontotemporal dementia, ubiquitin-positive;not provided	germline	17	44350251	TCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGG
121909489	22044	NM_002316.3(LMX1B):c.244C>T (p.Gln82Ter)	LMX1B	Jul 01, 1998	MedGen:C0027341,OMIM:161200,SNOMED CT:22199006	Nail-patella syndrome	germline	9	126615487	AACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCA
-1	455114	NM_001369.2(DNAH5):c.5482C>T (p.Gln1828Ter)	DNAH5	Apr 04, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13841694	CTAACTGAATTTCTTTCATCCTTCCCTGCTCAGGTCAGTGTATTGAAATTTGAAAGTATGT
121908087	19090	NM_000547.5(TPO):c.2077C>T (p.Arg693Trp)	TPO	Jul 01, 2003	MedGen:C1291299,OMIM:274500,SNOMED CT:124204003	Deficiency of iodide peroxidase	germline	2	1496059	AGGCGTGAGCTGGAGAAGCACTCCCTGTCTCGGGTCATCTGTGACAACACTGGCCTCACCA
886039416	259997	NM_130799.2(MEN1):c.772C>T (p.Gln258Ter)	MEN1	Jul 12, 2016	MedGen:CN517202	not provided	germline	11	64807563	GACCTGCACACCGACTCGCTGGAGCTTCTGCAGCTGCAGCAGGTGAGGGCTGAGCCAATGG
766313615	397205	NM_000264.4(PTCH1):c.2308C>T (p.Arg770Ter)	PTCH1	Jul 10, 2016	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002;MedGen:C0027672,SNOMED CT:699346009	Gorlin syndrome;Hereditary cancer-predisposing syndrome	germline	9	95467368	TTGCTGGGGGTCAGCCTTTATGGCACCACCCGAGTGAGAGACGGGCTGGACCTTACGGACA
121918405	31294	NM_016725.2(FOLR1):c.352C>T (p.Gln118Ter)	FOLR1	Aug 04, 2016	MedGen:C2751584,OMIM:613068,Orphanet:ORPHA217382	Cerebral folate deficiency	germline	11	72195454	GAGTGCTCCCCCAACTTGGGGCCCTGGATCCAGCAGGTATGCATGGCTTCCTGCAGGTACA
120074156	17848	NM_025074.6(FRAS1):c.8602C>T (p.Gln2868Ter)	FRAS1	Jun 01, 2003	MedGen:C0265233,OMIM:219000,SNOMED CT:204102004	Cryptophthalmos syndrome	germline	4	78481962	AAGGTGGAATTTGGGCCTGGTGTCATTGAACAGGTGCGTTTACAGCAGTCGAGACTCCACA
863225011	213850	NM_004006.2(DMD):c.8038C>T (p.Arg2680Ter)	DMD	May 30, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	31627852	GAACATTTGGTCCTTTGCAGGGTGAGTGAGCGAGAGGCTGCTTTGGAAGAAACTCATAGAT
137854552	15382	NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter)	NF1	Aug 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline;inherited	17	31334927	CGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGC
886039777	247328	NM_138927.2(SON):c.286C>T (p.Gln96Ter)	SON	Nov 02, 2016	Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C4310696,OMIM:617140	Failure to thrive;Global developmental delay;ZTTK syndrome	de novo;germline	21	33549517	GGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTA
80356655	31173	NM_000162.3(GCK):c.683C>T (p.Thr228Met)	GCK	Jun 12, 2017	MedGen:C1841962,OMIM:125851;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;Permanent neonatal diabetes mellitus;not provided	germline	7	44147830	TGACAGTCCCCCCGACCTCCACCCCAGGCACGGGCTGCAATGCCTGCTACATGGAGGAGAT
372844636	36365	NM_000060.4(BTD):c.631C>T (p.Arg211Cys)	BTD	Apr 21, 2017	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline	3	15644487	AGCAATAATGGAACCCTTGTTGACCGCTACCGTAAACACAACCTCTACTTTGAGGCAGCAT
121918202	16112	NM_001127897.3(RPGRIP1L):c.1033C>T (p.Gln345Ter)	RPGRIP1L	Jul 01, 2007	MedGen:C1969052,OMIM:611561	Meckel syndrome type 5	germline	16	53671580	TAATATGTAATTTTATTTTCATTTTAGCTGCAGGATAGAATTAATGATTTAGAAAAGGAAC
398123832	100328	NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter)	DMD	Feb 02, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;not provided	germline	X	31178721	CGAACCAAAAGGTATTTTGCGAAGCATCCCCGAATGGGCTACCTGCCAGTGCAGACTGTCT
121917875	17629	NM_198586.2(NHLRC1):c.793C>T (p.Arg265Ter)	NHLRC1	Mar 22, 2005	MedGen:C1850764	Epilepsy, progressive myoclonic 2b	germline	6	18121814	GAAAGGTTGCAAGCTCATCTGTGCAATCCCCGAGGGGTGGCAGTGTCTTGGCTCACCGGGG
879253939	244198	NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter)	MFN2	Jan 31, 2017	MedGen:CN517202	not provided	germline	1	12004029	TGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGC
1060503583	400557	NM_177438.2(DICER1):c.5494C>T (p.Gln1832Ter)	DICER1	Jul 30, 2017	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	germline	14	95091236	GATAGTGGGATGTCACTGGAGACAGTCTGGCAGGTGTACTATCCCATGATGCGGCCACTAA
119477056	19679	NM_198196.2(CD96):c.839C>T (p.Thr280Met)	CD96	Oct 01, 2007	MedGen:C0796095,OMIM:211750,Orphanet:ORPHA1308	C syndrome	germline	3	111585362	AAATCCCTGTGATTGTGGAAAATAACTCCACGGATGTCTTGGTAGAGGTGAGTCACATAAA
128626249	26297	NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter)	DMD	Apr 08, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32342123	CGGGAAATTGAGAGCAAATTTGCTCAGTTTCGAAGACTCAACTTTGCACAAATTGTGAGTT
863225005	213857	NM_004006.2(DMD):c.5917C>T (p.Gln1973Ter)	DMD	Jun 30, 2012	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32342105	TTTGCTCAGTTTCGAAGACTCAACTTTGCACAAATTGTGAGTTGTTACTGGCAAACCCACG
878854365	226483	NM_000540.2(RYR1):c.2029C>T (p.Gln677Ter)	RYR1	May 26, 2017	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN239331	Central core disease;RYR1-Related Disorders	germline;unknown	19	38458154	GTGGACGAGGTGACTCCATTTCTGACAGCTCAGGCCACCCACTTGCGGGTGGGCTGGGCCC
-1	427249	NM_000038.5(APC):c.706C>T (p.Gln236Ter)	APC	Nov 05, 2012	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112792506	AAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTA
587776411	153691	NM_024675.3(PALB2):c.1108C>T (p.Gln370Ter)	PALB2	Dec 05, 2016	MedGen:CN517202	not provided	germline	16	23635438	GACACTCTTGATGGCAGGAATGAAAATCTTCAGGAAAGTGAGATTCTAAGTCAACCTAAGA
-1	476064	NM_005591.3(MRE11):c.1771C>T (p.Gln591Ter)	MRE11	Feb 29, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	94447231	GGGCAGAATTCAGCATCGAGAGGAGGGTCTCAAAGAGGAAGAGGTGAGCACTGAGTTCAGT
1060499791	389233	NM_001171932.1(CDH23):c.1036C>T (p.Pro346Ser)	CDH23	Jul 01, 2017	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71617295	ATCCTGGTTATTGACATCAATGACAATGCCCCGGAGTTCAACAGCTCCGAGTACAGCGTGG
886041678	264300	NM_017890.4(VPS13B):c.8254C>T (p.Gln2752Ter)	VPS13B	Apr 06, 2016	MedGen:CN517202	not provided	germline	8	99817621	GAACTAAAAGTCGTTCAGCATTACATTGGTCAAGATGGACAAGCTGTAGTTCGGGAACATT
794726912	190436	NM_004260.3(RECQL4):c.82C>T (p.Gln28Ter)	RECQL4	Sep 03, 2014	MedGen:C0032339,OMIM:268400,Orphanet:ORPHA2909,SNOMED CT:69093006	Rothmund-Thomson syndrome	germline	8	144517703	TTCCGACGGCAGCGCGGGCGGCGACCGAGCCAGGTGCGGGCTGCCCAGGGGCCGAGGGGCT
606231300	167930	NM_003051.3(SLC16A1):c.586C>T (p.Arg196Ter)	SLC16A1	Nov 13, 2014	MedGen:C4016684	Monocarboxylate transporter 1 deficiency, autosomal dominant	germline	1	112917820	CTAAACTGCTGTGTTGCTGGAGCCCTCATGCGACCAATCGGGCCCAAGCCAACCAAGGCAG
199422234	24811	NM_004187.3(KDM5C):c.2191C>T (p.Leu731Phe)	KDM5C	Feb 01, 2005	MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279	Mental retardation, syndromic, Claes-Jensen type, X-linked	germline	X	53199029	TGCTACGACTGCCCAGACGGCCTTGTCTGCCTTTCCCACATCAATGATCTCTGCAAGTGCT
730880452	179869	NM_000169.2(GLA):c.847C>T (p.Gln283Ter)	GLA	Mar 06, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline	X	101398522	TTTGGCCTCAGCTGGAATCAGCAAGTAACTCAGATGGCCCTCTGGGCTATCATGGCTGCTC
1085307160	414087	NM_001204.6(BMPR2):c.82C>T (p.Q28*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464814	CATTCCTTTATTTCCTTTATTTTAGCTTCGCAGAATCAAGAACGGCTATGTGCGTTTAAAG
1114167403	413971	NM_000088.3(COL1A1):c.4292C>T (p.Thr1431Ile)	COL1A1	-	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	unknown	17	50185605	CCTGGGGCAAGACAGTGATTGAATACAAAACCACCAAGACCTCCCGCCTGCCCATCATCGA
374290942	264358	NM_006766.4(KAT6A):c.3553C>T (p.Gln1185Ter)	KAT6A	Mar 29, 2016	MedGen:CN517202	not provided	germline	8	41934667	TTGAGTCGGGAAATCATGCCAGTTTCTACTCAAGCATGCGTCATTGAGCCCATCGTTTCCA
80338926	34542	NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys)	SH3TC2	Apr 10, 2017	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949;MedGen:CN517202	Charcot-Marie-Tooth disease, type 4C;not provided	germline	5	149027760	CGGCACGAGGAGGTCCTGCCCTTTGCCGAGCGCCTGCAGCTCCTCTCTGGACACCCTCCTG
104894761	25893	NM_000054.4(AVPR2):c.409C>T (p.Arg137Cys)	AVPR2	May 05, 2005	MedGen:C1845202,OMIM:300539,Orphanet:ORPHA93606	Nephrogenic syndrome of inappropriate antidiuresis	germline	X	153905915	TCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGG
558699420	247672	NM_144997.5(FLCN):c.634C>T (p.Gln212Ter)	FLCN	Jul 18, 2016	MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001	Multiple fibrofolliculomas	germline	17	17222646	CCCTTTGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGA
104894339	32883	NM_000486.5(AQP2):c.785C>T (p.Pro262Leu)	AQP2	Dec 15, 2004	MedGen:C4015884	Diabetes insipidus, nephrogenic, autosomal recessive	germline	12	49955577	GACGGCGGCAGTCGGTGGAGCTGCACTCGCCGCAGAGCCTGCCACGGGGTACCAAGGCCTG
879255593	227007	NM_130837.2(OPA1):c.2635C>T (p.Arg879Ter)	OPA1	Aug 18, 2016	MedGen:C0221061,OMIM:210000,Orphanet:ORPHA1239,SNOMED CT:66988006	Abortive cerebellar ataxia	germline	3	193662936	ATAACCACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGGTAA
113994174	47515	NM_001079.3(ZAP70):c.1393C>T (p.Arg465Cys)	ZAP70	Mar 01, 2012	MedGen:C1849236,OMIM:269840	Severe combined immunodeficiency, atypical	not provided	2	97737576	AAGAACTTTGTGCACCGTGACCTGGCGGCCCGCAACGTCCTGCTGGTTAACCGGCACTACG
769853984	482021	NM_005430.3(WNT1):c.364C>T (p.Arg122Ter)	WNT1	Dec 12, 2017	MedGen:CN517202	not provided	germline	12	48980429	TGATCCCCGCTCCCTTCTCCCACAGGCTGTCGAGAAACGGCGTTTATCTTCGCTATCACCT
137852709	23877	NM_000336.2(SCNN1B):c.800C>T (p.Pro267Leu)	SCNN1B	Nov 15, 2005	MedGen:C2749757,OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	germline	16	23367879	CTTTTAGGAACTTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTG
397514531	48142	NM_001139.2(ALOX12B):c.1207C>T (p.His403Tyr)	ALOX12B	Jan 18, 2013	MedGen:C1855792,OMIM:242100	Autosomal recessive congenital ichthyosis 2	germline	17	8077058	CACGAGGCCATCGCCCACCTGCTGGAGACACACCTCATTGCTGAGGCCTTCTGCCTGGCCT
121912885	32423	NM_001844.4(COL2A1):c.1999C>T (p.Leu667Phe)	COL2A1	Sep 11, 2014	MedGen:C2020284,OMIM:108300;MedGen:C1836080,OMIM:609508	Stickler syndrome type 1;Stickler syndrome, type I, nonsyndromic ocular	germline	12	47983435	GCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAG
74315501	18332	NM_000268.3(NF2):c.1219C>T (p.Gln407Ter)	NF2	Aug 01, 1994	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29673365	CTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGA
201097695	214344	NM_001244189.1(KIAA0586):c.802C>T (p.Gln268Ter)	KIAA0586	Sep 01, 2015	MedGen:C4084822,OMIM:616490	Joubert syndrome 23	unknown	14	58444011	AATTCTGTTACAGAATTACTTAGTAAATTACAGGAGACTGATAAACACCTGCAACGTGTTA
387907025	39786	NM_018238.3(AGK):c.841C>T (p.Arg281Ter)	AGK	Mar 13, 2017	MedGen:C1859317,OMIM:212350,Orphanet:ORPHA1369;MedGen:CN517202	Cataract and cardiomyopathy;not provided	germline	7	141641362	CAAAGGCCTTCTTTGTACAGGAGAATATTACGAAGGCTTGCGTCCTACTGGGCACAACCAC
72664289	426794	NM_001171.5(ABCC6):c.4305C>T (p.Gly1435=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150676	GGACGAGGCTACTGCTGCCGTGGACCCTGGCACGGAGCTGCAGATGCAGGCCATGCTCGGG
118204014	16662	NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp)	ACADVL	Jun 27, 2017	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202;MedGen:CN169374	Very long chain acyl-CoA dehydrogenase deficiency;not provided;not specified	germline;unknown	17	7224966	CCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGT
72554649	26823	NM_000052.6(ATP7A):c.2938C>T (p.Arg980Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78029271	CTTCTAAAGGGCTACAATAGAAGTATCTCCCGAACAGAAACGATAATACGATTTGCTTTCC
879255038	246355	NM_000527.4(LDLR):c.1829C>T (p.Ser610Phe)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116982	AGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTA
200640585	96857	NM_000535.6(PMS2):c.943C>T (p.Arg315Ter)	PMS2	Aug 04, 2017	MedGen:CN221576;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1838333,OMIM:614337;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Colorectal cancer, non-polyposis;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided	germline;unknown	7	5992018	CTCGTGAATGAGGTCTACCACATGTATAATCGACACCAGTATCCATTTGTTGTTCTTAACA
794726692	108182	NM_017775.3(TTC19):c.829C>T (p.Gln277Ter)	TTC19	Jan 07, 2014	MedGen:C3554605,OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	germline	17	16025169	TCTGAAGAAATACAAGGAGAAAGACACCCACAGGTAAGGGAGGAAAACACAGAAGGGGGAA
137854476	31491	NM_000138.4(FBN1):c.1585C>T (p.Arg529Ter)	FBN1	Dec 29, 2016	MedGen:CN229799;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome;not provided	germline	15	48513552	TATCAGAGCACACTCACGCGGACAGAATGCCGAGGTATGGTCCTGGCTCCTGACGTGGAAT
201732356	202926	NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys)	POLG	Aug 24, 2017	MedGen:CN517202	not provided	germline	15	89318737	CCCACCTTCCCTTCCCAGTTTATGACCAGCCGTGTGAATTGGGTGGTACAGAGCTCTGCTG
121909146	22586	NM_001122681.1(SH3BP2):c.1253C>T (p.Pro418Leu)	SH3BP2	Jun 01, 2001	MedGen:C0008029,OMIM:118400,Orphanet:ORPHA184,SNOMED CT:76098004	Fibrous dysplasia of jaw	germline	4	2831582	CCTCTCCCTGCCCCTCCAGGCGATCACCCCCCGATGGGCAGAGTTTCAGGAGCTTCTCCTT
771764281	420761	NM_001042492.2(NF1):c.82C>T (p.Gln28Ter)	NF1	Jan 11, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31156004	TTTTTTCAGCTTCCAATAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGC
770873593	197076	NM_004415.3(DSP):c.4198C>T (p.Arg1400Ter)	DSP	May 02, 2014	MedGen:CN517202	not provided	germline	6	7580388	GGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAA
878853269	237780	NM_006734.3(HIVEP2):c.3556C>T (p.Gln1186Ter)	HIVEP2	Jun 28, 2017	MedGen:C4310771,OMIM:616977	Mental retardation, autosomal dominant 43	germline	6	142771183	TCCTATATGACAAGCAAGCACTTACCTGAACAGCCACACTTATTTCCACATCAAGAGACAA
121434364	17142	NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter)	GTF2H5	Jan 06, 2016	MedGen:C1866504,OMIM:601675;MedGen:C4017171,OMIM:616395	Trichothiodystrophy 1, photosensitive;Trichothiodystrophy 3, photosensitive	germline	6	158192107	ATAGCAGAATTGGTTAATGTCCTCCAGGAGCGAGTGGGTGAATTAATGGACCAAAATGCTT
118204093	16541	NM_004035.6(ACOX1):c.442C>T (p.Arg148Ter)	ACOX1	Nov 30, 2017	MedGen:C1849678,OMIM:264470,Orphanet:ORPHA2971;MedGen:CN517202	Pseudoneonatal adrenoleukodystrophy;not provided	germline	17	75957555	ATGTAATTTATCTCCTTAGGAACTCACCTTCGAGGCTTGGAAACCACAGCCACGTATGACC
41469351	23229	NM_000579.3(CCR5):c.-229C>T	CCR5	Dec 01, 1999	MedGen:C4017844	Human immunodeficiency virus type 1, increased perinatal transmission of	germline	3	46370771	TCCAGTGAGAAAAGCCCGTAAATAAACCTTCAGACCAGAGATCTATTCTCTAGCTTATTTT
527236048	152796	NM_000390.3(CHM):c.808C>T (p.Arg270Ter)	CHM	Jul 31, 2017	Human Phenotype Ontology:HP:0001139,MedGen:C0008525,OMIM:303100,Orphanet:ORPHA180,SNOMED CT:75241009;MedGen:CN517202	Choroideremia;not provided	germline	X	85958872	ATTACCAGGATTCTTGCATTTCGAGAAGGACGAGTGGAACAGGTACTGTGCTGATCAAGAA
587778864	132294	NM_000321.2(RB1):c.1723C>T (p.Gln575Ter)	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48453020	TAGGATTCACCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGGACCAACTGATC
886041222	264422	NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)	PAX6	Jun 19, 2017	MedGen:C0344542,OMIM:106210;MedGen:C0344542,OMIM:106210;Human Phenotype Ontology:HP:0000659,MedGen:C0344559,OMIM:604229,SNOMED CT:204153003;MedGen:CN517202	Aniridia 1;Aniridia 1;Irido-corneo-trabecular dysgenesis;not provided	de novo;germline;unknown	11	31793787	CCACCTGATTTCCAGGTATGGTTTTCTAATCGAAGGGCCAAATGGAGAAGAGAAGAAAAAC
121908388	20292	NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter)	CYLD	Sep 19, 2013	MedGen:C1851526,OMIM:132700;MedGen:CN169374	Cylindromatosis, familial;not specified	germline;unknown	16	50792627	GCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAA
63750871	24273	NM_000535.6(PMS2):c.400C>T (p.Arg134Ter)	PMS2	Jul 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1838333,OMIM:614337;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Turcot syndrome;not provided	germline;unknown	7	6002590	ACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAATGGGAAAATTA
104895462	19735	NM_022162.2(NOD2):c.1000C>T (p.Arg334Trp)	NOD2	Nov 01, 2008	MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464	Blau syndrome;Sarcoidosis, early-onset	germline	16	50710911	GAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCT
-1	482172	NM_015559.2(SETBP1):c.1264C>T (p.Gln422Ter)	SETBP1	Jan 24, 2018	MedGen:CN517202	not provided	germline	18	44950604	GATCCAACCAACCATAAGAGGAAAAAAAGACAGTCCATTAAAGCGGTGGTGGAAAAGATCA
772995852	204043	NM_152641.3(ARID2):c.4318C>T (p.Gln1440Ter)	ARID2	Dec 14, 2017	MedGen:CN696018,OMIM:617808	COFFIN-SIRIS SYNDROME 6	germline	12	45852441	AGTATACAGGAGGCTTCAAATGCGGCAACACAGCAATTTAGTGGTACTGATTTGCTTAATG
63751693	96091	NM_000251.2(MSH2):c.1285C>T (p.Gln429Ter)	MSH2	Dec 02, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47445556	TTGTTTTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTC
587776407	153707	NM_024675.3(PALB2):c.451C>T (p.Gln151Ter)	PALB2	Oct 11, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	16	23636095	CAGAAGCTGCCAAGCAGAAGAAAGAAGCAGCAGAAGAGGACATTTATTTCACAGGAGAGAG
387907310	45869	NM_014956.4(CEP164):c.277C>T (p.Arg93Trp)	CEP164	Oct 08, 2012	MedGen:C3541853,OMIM:614845	Nephronophthisis 15	germline	11	117351872	ATGTGGGACCATCCATGTGACGAACACTATCGGAGCTTGGTGATCCAAGAGCGGGCAAAGC
386834070	71284	NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter)	VPS13B	Oct 17, 2016	Human Phenotype Ontology:HP:0007018,MedGen:C1263846,OMIM:143465,SNOMED CT:406506008;Human Phenotype Ontology:HP:0000670,MedGen:C0011334;MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;Human Phenotype Ontology:HP:0002761,MedGen:C1836308;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0001252,MedGen:C0026827;Human Phenotype Ontology:HP:0002317,MedGen:C0231686;MedGen:CN517202	Attention deficit hyperactivity disorder;Carious teeth;Cohen syndrome;Generalized joint laxity;Global developmental delay;Intellectual disability;Microcephaly;Muscular hypotonia;Unsteady gait;not provided	germline;inherited	8	99134644	TATTCTTATATTTCTTAGCTCACAGAAATGCAAGTTGAGAGTAGTTATTACAGTCCACAGA
753780877	185937	NM_003922.3(HERC1):c.9748C>T (p.Arg3250Ter)	HERC1	Jul 08, 2015	MedGen:C4310766,OMIM:617011,Orphanet:ORPHA457359;MedGen:CN228136	Macrocephaly, dysmorphic facies, and psychomotor retardation;Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability	germline	15	63656210	TCTGCCATGGCTAGCACCTCAGAACGATCACGAGGTGGGCATAGCAAGGCTAACAAGCCTA
281865123	49438	NM_000530.7(MPZ):c.241C>T (p.His81Tyr)	MPZ	Mar 26, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161306915	CATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACG
80359849	16775	NM_001017420.2(ESCO2):c.505C>T (p.Arg169Ter)	ESCO2	Oct 02, 2008	MedGen:C0392475,OMIM:268300,OMIM:269000,SNOMED CT:48718006	Roberts-SC phocomelia syndrome	germline	8	27776813	TCAAGGAATTCTAGAAATTCCAAGCAAAATCGAGTGATCTATAAGCCAATTGTGGAGAAGG
773852926	359149	NM_153461.3(IL17RC):c.1126C>T (p.Arg376Ter)	IL17RC	Jul 06, 2015	MedGen:C4225324,OMIM:616445	Candidiasis, familial, 9	germline	3	9928340	CGCGCACACCAGAACCTCTGGCAAGCCGCCCGACTGCAACTGCTGACCCTGCAGAGCTGGC
397508740	68647	NM_000492.3(CFTR):c.4C>T (p.Gln2Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117480098	AGCAGGGACCCCAGCGCCCGAGAGACCATGCAGAGGTCGCCTCTGGAAAAGGCCAGCGTTG
128624221	26341	NM_000033.3(ABCD1):c.1390C>T (p.Arg464Ter)	ABCD1	Aug 01, 1994	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153736510	GGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGA
587777442	141319	NM_000414.3(HSD17B4):c.101C>T (p.Ala34Val)	HSD17B4	Nov 22, 2012	MedGen:C0685838,OMIM:233400,Orphanet:ORPHA2855,SNOMED CT:93466004	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	germline	5	119456357	CCTATGCCCTGGCTTTTGCAGAAAGAGGAGCGTTAGTTGTTGGTAAGTTGGTGTGTTTTTC
587779585	107044	NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189011667	GGGGAATGGAGCAAAACAGTCTTTGAATATCGAACACGCAAGGCTGTGAGACTACCTATTG
116987552	17337	NM_005609.3(PYGM):c.148C>T (p.Arg50Ter)	PYGM	Sep 21, 2017	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009;MedGen:CN517202	Glycogen storage disease, type V;not provided	germline;unknown	11	64759751	CTCGTAAAGGACCGCAATGTGGCCACCCCACGAGACTACTACTTTGCTCTGGCCCATACCG
267606906	29189	NM_002471.3(MYH6):c.2489C>T (p.Pro830Leu)	MYH6	Jul 05, 2005	MedGen:C2750466,OMIM:613252	Dilated cardiomyopathy 1EE	germline	14	23394264	TTCGGGCCTTCATGGGGGTCAAGAATTGGCCCTGGATGAAGCTCTACTTCAAGATCAAGCC
886038114	248980	NM_000059.3(BRCA2):c.4972C>T (p.Gln1658Ter)	BRCA2	Jun 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:CN517202	Breast-ovarian cancer, familial 2;not provided	germline	13	32339327	GCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAG
770641163	183467	NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter)	ATM	Oct 02, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Ataxia-telangiectasia syndrome;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108365208	ACTCTGAATGCAGATGACCAAGAATGCAAACGAAATCTCAGGTGAGCAGTATTTTAAGAAG
755097302	368487	NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter)	CPLANE1	Jan 16, 2017	MedGen:CN517202	not provided	germline	5	37227669	ATATCTGATGGATATATGGTCACAACCCTTCGATTTCTTGATAGCCTATCTCCATCAGTAC
878853559	241649	NM_000059.3(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2	Aug 17, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline	13	32336450	AAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCTC
137852364	25164	NM_000132.3(F8):c.1171C>T (p.Arg391Cys)	F8	Apr 15, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154966526	GATGACAACTCTCCTTCCTTTATCCAAATTCGCTCAGTTGCCAAGAAGCATCCTAAAACTT
57890479	29684	NM_000424.3(KRT5):c.523C>T (p.Leu175Phe)	KRT5	Aug 01, 1996	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	12	52519774	AGGACCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATAAGTTTGCCTCCTTCATCGACA
606231285	167469	NM_181503.2(EXOSC8):c.5C>T (p.Ala2Val)	EXOSC8	Jul 03, 2014	MedGen:C4015160,OMIM:616081	Pontocerebellar hypoplasia, type 1c	germline	13	37000810	GCAGGCGCAGACGCGCGGGCGGGAAGATGGCGGCTGGGTTCAAGTGAGTGTTGGCGGGTGG
121913300	132334	NM_000321.2(RB1):c.958C>T (p.Arg320Ter)	RB1	Jul 06, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline;somatic	13	48367512	TTTTCTTTCAAGGTTGAAAATCTTTCTAAACGATACGAAGAAATTTATCTTAAAAATAAAG
148559256	187652	NM_138387.3(G6PC3):c.829C>T (p.Gln277Ter)	G6PC3	Jan 18, 2015	MedGen:C2675526,OMIM:612541,Orphanet:ORPHA331176	Severe congenital neutropenia 4, autosomal recessive	germline	17	44075831	TCTCCCTGCTATGCCCAGGTGCGTCGGGCACAGCTGGGAAATGGCCAGAAGATAGCCTGCC
181327458	201287	NM_021007.2(SCN2A):c.823C>T (p.Arg275Ter)	SCN2A	Nov 01, 2013	MedGen:CN517202	not provided	germline	2	165310448	ATAGGATTGCAGTTGTTCATGGGCAACCTACGAAATAAATGTTTGCAATGGCCTCCAGATA
121908050	18699	NM_000229.1(LCAT):c.440C>T (p.Thr147Ile)	LCAT	Jun 01, 1991	MedGen:C0342895,OMIM:136120,Orphanet:ORPHA79292,SNOMED CT:238092004	Fish-eye disease	germline	16	67942754	CTGCTGGTCCCCCCACAGGGTACCTGCACACACTGGTGCAGAACCTGGTCAACAATGGCTA
61754634	28682	NM_000175.4(GPI):c.671C>T (p.Thr224Met)	GPI	Sep 15, 1996	MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	germline	19	34378971	CTACCCAGGAGACCATCACGAATGCAGAGACGGCGAAGGAGTGGTTTCTCCAGGCGGCCAA
121917787	27079	NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp)	FANCD2	Feb 01, 2001	MedGen:C3160738,OMIM:227646	Fanconi anemia, complementation group D2	germline	3	10043065	ATTTACTTTCTGCAGGTAATTTCTGAGCTTCGGGAGAAGTTGGATCTGCAGCATTGTGTTT
397514363	36350	NM_000060.4(BTD):c.469C>T (p.Arg157Cys)	BTD	Sep 30, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline	3	15644325	TTACACCTTTTTTTCCTCTAGGTGCTCCAGCGCCTGAGTTGTATGGCCATCAGGGGAGATA
74315424	18357	NM_020436.4(SALL4):c.1954C>T (p.Gln652Ter)	SALL4	Nov 01, 2002	MedGen:C1623209,OMIM:607323,Orphanet:ORPHA93293	Duane-radial ray syndrome	germline	20	51790529	CAGCAACATATTCGGATGCACATGGGCGGTCAGATTCCCAACACGCCCCTGCCAGAGAATC
573951598	76746	NM_000784.3(CYP27A1):c.1213C>T (p.Arg405Trp)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218814408	AGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATG
531009160	275014	NM_001025295.2(IFITM5):c.100C>T (p.Arg34Ter)	IFITM5	Sep 15, 2016	MedGen:C1970414,OMIM:610967,Orphanet:ORPHA216828	Osteogenesis imperfecta type 5	germline	11	299391	CTCACACTGGGGGCCCCGCACCCCCCGCCTCGAGACCACTTGATCTGGTCGGTGTTCAGCA
137852334	25435	NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD GUADALAJARA	germline	X	154532695	GCCGGCGACATCTTCCACCAGCAGTGCAAGCGCAACGAGCTGGTGATCCGCGTGCAGCCCA
763091520	197655	NM_000138.4(FBN1):c.6169C>T (p.Arg2057Ter)	FBN1	Nov 06, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48437912	AGGGTGTCATAAATTTATGCTGCAGATTTGCGAATGAGCTACTGTTATGCGAAGTTTGAAG
397515453	75301	NM_181523.2(PIK3R1):c.1945C>T (p.Arg649Trp)	PIK3R1	May 18, 2017	MedGen:C3554689,OMIM:615214;MedGen:C4014934,OMIM:616005;MedGen:C0878684,OMIM:269880;MedGen:C0878684,OMIM:269880;MedGen:CN517202	Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36;SHORT syndrome;SHORT syndrome;not provided	germline;unknown	5	68296301	CGAGGGAAGCGAGATGGCACTTTTCTTGTCCGGGAGAGCAGTAAACAGGGCTGCTATGCCT
387906904	39429	NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)	TRPV4	Jul 19, 2017	MedGen:C2079540,OMIM:606071;Gene:8094,MedGen:C1838492,OMIM:600175,Orphanet:ORPHA1216;MedGen:C0027868,Orphanet:ORPHA68381;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:CN517202	Charcot-Marie-Tooth disease type 2C;Distal spinal muscular atrophy, congenital nonprogressive;Neuromuscular Diseases;Skeletal dysplasia;not provided	germline	12	109803009	AACATGAGGGAGTTCATTAACTCGCCCTTCCGTGACATCTACTATCGAGGTGGGGCCCCGG
749509661	193055	NM_014780.4(CUL7):c.4717C>T (p.Arg1573Ter)	CUL7	Dec 22, 2014	MeSH:D030342,MedGen:C0950123;MedGen:C1848862,OMIM:273750	Inborn genetic diseases;Three M syndrome 1	germline	6	43038323	AGACGGAATCTTCTGAACTGCCTCATCGTCCGAATCCTCAAGGCCCATGGAGATGAGGGGC
45517297	58425	NM_000548.4(TSC2):c.3532C>T (p.Gln1178Ter)	TSC2	Feb 03, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2080299	AAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGC
765274952	372593	NM_002336.2(LRP6):c.3178C>T (p.Arg1060Ter)	LRP6	Jan 06, 2017	MedGen:CN517202	not provided	germline	12	12148970	GTGGTGCTGAAAGGCGAGCAGGACAGACCTCGAGCCGTTGTGGTAAACCCAGAGAAAGGGT
-1	427924	NM_021007.2(SCN2A):c.2566C>T (p.Arg856Ter)	SCN2A	Jan 30, 2017	MedGen:C3150987,OMIM:613721	Early infantile epileptic encephalopathy 11	germline	2	165344558	TAACACTGTTCTTGCTTTTATTTCCAGCTCCGAGTTTTCAAGTTGGCAAAATCTTGGCCAA
122458139	26605	NM_022977.2(ACSL4):c.1124C>T (p.Pro375Leu)	ACSL4	Jan 01, 2003	MedGen:C1845672,OMIM:300387	Mental retardation 63, X-linked	germline	X	109674403	TACTGAAGCCCACACTTATGGCTGCTGTTCCGGTGAGTACAGAATATGAATATGAACATAA
201868387	360057	NM_000359.2(TGM1):c.790C>T (p.Arg264Trp)	TGM1	Sep 05, 2015	MedGen:CN517202	not provided	germline	14	24260026	GACATTGTGTACGTGGACCATGAGGATTGGCGGCAGGAGTATGTTCTTAATGAGTCTGGGA
119463991	18245	NM_001079802.1(FKTN):c.346C>T (p.Gln116Ter)	FKTN	Nov 01, 2003	MedGen:CN355827	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4	germline	9	105601325	GTTCCAAGAGACTTTACTGCATTTGCACTGCAGTATCACCTATGGAAGAATGAGGTAAGTG
63750558	96023	NM_000251.2(MSH2):c.1120C>T (p.Gln374Ter)	MSH2	Oct 19, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47429785	GAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGAT
1057524341	374595	NM_015335.4(MED13L):c.4051C>T (p.Gln1351Ter)	MED13L	Jan 10, 2017	MedGen:CN517202	not provided	germline	12	115987172	AAGCGCACGGGCAGGACCTGGGAGAACATCCAGCATGTGCAGGGACCACTCACTTGGCAGC
78194216	22201	NM_000492.3(CFTR):c.3196C>T (p.Arg1066Cys)	CFTR	Jun 19, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117611637	GTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAA
886041968	264793	NM_001170629.1(CHD8):c.2992C>T (p.Gln998Ter)	CHD8	Sep 12, 2016	MedGen:CN517202	not provided	germline	14	21405780	TTTAGCTTGCTTCATTTCTTGGAACCGTCACAATTTCCCTCAGAATCAGAGTTTCTCAAGG
878853088	237340	NM_006015.4(ARID1A):c.1207C>T (p.Gln403Ter)	ARID1A	Apr 22, 2016	MedGen:CN517202	not provided	germline	1	26729720	CAGCCATATGGCGGGACTAACCCATACTCGCAGCAACAGGGACCTCCGTCAGGACCGCAGC
1057523157	367600	NM_014159.6(SETD2):c.5218C>T (p.Arg1740Trp)	SETD2	Jan 31, 2017	MedGen:CN517202	not provided	germline	3	47088172	TCTGATAAAAACCAGGTGCTCAGCTTATCCCGGCTAATGGTTAGAATTGAAACTTTGGAGC
776245016	380164	NM_001033053.2(NLRP1):c.2176C>T (p.Arg726Trp)	NLRP1	Mar 08, 2017	MedGen:CN240904,OMIM:617388	Autoinflammation with arthritis and dyskeratosis	germline	17	5558520	CTGGAGTCCCTCCACTGCTTGTACGAGACTCGGAACAAAACGTTCCTGACACAAGTGATGG
794728482	197261	NM_000238.3(KCNH2):c.1694C>T (p.Ala565Val)	KCNH2	Oct 03, 2011	MedGen:CN517202	not provided	germline	7	150951699	GCACCTTTGCGCTCATCGCGCACTGGCTAGCCTGCATCTGGTACGCCATCGGCAACATGGA
137852368	25178	NM_000132.3(F8):c.1063C>T (p.Arg355Ter)	F8	Jun 13, 1986	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154966634	GTAGACAGCTGTCCAGAGGAACCCCAACTACGAATGAAAAATAATGAAGAAGCGGAAGACT
1131691539	421875	NM_000391.3(TPP1):c.787C>T (p.Gln263Ter)	TPP1	Sep 02, 2015	MedGen:CN517202	not provided	germline	11	6616760	CATCAGGCATCAGTAGCCCGTGTGGTTGGACAACAGGGCCGGGGCCGGGCCGGGATTGAGG
786204433	186802	NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter)	ATM	Dec 15, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108304822	AGCTGTCTTCGACACTTCTCGCAAACGAGCCGATCCACAACCCCTGCAAACTTGGATTCAG
587783479	169247	NM_004380.2(CREBBP):c.3310C>T (p.Gln1104Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3758913	CTCATGCCAACCCTAGAAGCACTGTATCGACAGGACCCAGAGTCATTACCTTTCCGGCAGC
370247862	462106	NM_005609.3(PYGM):c.280C>T (p.Arg94Trp)	PYGM	Jun 13, 2017	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	germline	11	64758668	TACTACCTGTCTTTAGAGTTCTATATGGGACGGACGCTACAGAACACCATGGTGAACCTGG
786203888	183080	NM_000051.3(ATM):c.151C>T (p.Gln51Ter)	ATM	Dec 22, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108227854	AAACATCTAGATCGGCATTCAGATTCCAAACAAGGAAAATATTTGAATTGGGATGCTGTTT
199473457	67754	NM_000218.2(KCNQ1):c.691C>T (p.Arg231Cys)	KCNQ1	May 23, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 1;not provided	germline;unknown	11	2572020	GCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACG
121434618	25950	NM_017745.5(BCOR):c.254C>T (p.Pro85Leu)	BCOR	Oct 02, 2014	MedGen:C1846265,OMIM:300166,Orphanet:ORPHA2712	Oculofaciocardiodental syndrome	germline	X	40075092	CTGGCCTGATCCGGGAAGGGCTGCGGGTCCCGGGAAACATCGTCTATTCTAGCTTGTGTGG
-1	481474	NM_014946.3(SPAST):c.1484C>T (p.Ala495Val)	SPAST	Sep 08, 2017	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	de novo	2	32137179	CAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGTAGGGAGATTTATATGGAAA
118203956	16240	NM_020381.3(PDSS2):c.1145C>T (p.Ser382Leu)	PDSS2	Jun 07, 2016	MedGen:C3553358,OMIM:614652	Coenzyme Q10 deficiency, primary, 3	germline	6	107154674	CACTGGAGGCCCTGGAGAGCTTTCCTCCCTCGGAGGCCAGATCTGCTTTAGAAAACATTGT
-1	475820	NM_000051.3(ATM):c.6913C>T (p.Gln2305Ter)	ATM	Apr 06, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108326163	GAAGCACAAGTATTCTGGGCAAAAAAGGAGCAGAGTCTTGCCCTGAGTATTCTCAAGCAAA
751565386	432071	NM_014112.4(TRPS1):c.2761C>T (p.Arg921Ter)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115418392	AATTGCCTGACCACAAAGACCTCTCTCTGGCGAAAGAATGCAAATGGCGGATATGTATGCA
587784483	168982	NM_006009.3(TUBA1A):c.1204C>T (p.Arg402Cys)	TUBA1A	May 15, 2017	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011;MedGen:CN517202	Lissencephaly 3;not provided	germline	12	49185162	GACCACAAGTTTGACCTGATGTATGCCAAACGTGCCTTTGTTCACTGGTACGTTGGGGAGG
794726736	187823	NM_001165963.1(SCN1A):c.1738C>T (p.Arg580Ter)	SCN1A	Jun 19, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166043974	AGCAGAACAAGCCTTTTCAGCTTTAGAGGGCGAGCAAAGGATGTGGGATCTGAGAACGACT
-1	481817	NM_006766.4(KAT6A):c.949C>T (p.Arg317Ter)	KAT6A	Jan 02, 2018	MedGen:CN517202	not provided	germline	8	41978736	TGTCAAATATGTCGACCTAGGAAAAAAGGACGAAAACTTCTACAAAAGAAGGCAGCACAGA
759080581	202600	NM_000391.3(TPP1):c.196C>T (p.Gln66Ter)	TPP1	Oct 09, 2014	MedGen:CN517202	not provided	germline	11	6618809	CAGAATGTGGAAAGACTCTCGGAGCTGGTGCAGGCTGTGTCGGATCCCAGCTCTCCTCAAT
121908309	19365	NM_001005741.2(GBA):c.1192C>T (p.Arg398Ter)	GBA	Oct 31, 2017	MedGen:C1842704,OMIM:608013,Orphanet:ORPHA85212;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:CN517202	Gaucher disease, perinatal lethal;Gaucher's disease, type 1;not provided	germline	1	155236277	GAGCAGAGTGTGCGGCTAGGCTCCTGGGATCGAGGGATGCAGTACAGCCACAGCATCATCA
150331292	362142	NM_199053.2(TRAPPC11):c.142C>T (p.Arg48Ter)	TRAPPC11	-	MedGen:C3809236,OMIM:615356	Limb-girdle muscular dystrophy, type 2S	germline	4	183664009	GACGCCTTCTGTGCAAATCGGAGAGCTGATCGAGTACCAATTTCTTTCAAGGTGCTCCCAG
201987973	227688	NM_001256047.1(C19orf12):c.215C>T (p.Pro72Leu)	C19orf12	Jan 15, 2013	MedGen:C3280371,OMIM:614298,Orphanet:ORPHA289560	Neurodegeneration with brain iron accumulation 4	germline	19	29702923	GTGCCTGGATGACAAGTGGACAGTTTAAGCCGGTTCCTCAGATCCTAATGGAGCTGCCCCC
-1	444705	NM_000051.3(ATM):c.664C>T (p.Gln222Ter)	ATM	Aug 25, 2017	MedGen:CN517202	not provided	germline	11	108244789	CCCAGTTGAGCTTGTTTGTTTCTTCACAGACAAGAAAAGAGCTCTTCAGGTCTAAATCATA
121912609	17028	NM_144966.5(FREM1):c.1945C>T (p.Arg649Trp)	FREM1	Sep 01, 2009	MedGen:C2750433,OMIM:608980,Orphanet:ORPHA217266;MedGen:CN517202	Bifid nose with or without anorectal and renal anomalies;not provided	germline	9	14824929	CAGCTTCCAAAAGAGGCTCCTGGAGTTTCTCGGCATTTGGTTGTCAAGGAAACTGAGGTGG
796052623	203792	NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	de novo;germline	20	63444748	GTCTTTGCCACATCTGCGCTCCGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGCA
397515577	76667	NM_152296.4(ATP1A3):c.2051C>T (p.Ser684Phe)	ATP1A3	May 04, 2014	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	de novo	19	41976459	ATCACACCGAGATCGTCTTCGCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGG
-1	439571	NM_000829.3(GRIA4):c.1931C>T (p.Ala644Val)	GRIA4	Feb 07, 2018	MedGen:CN800195,OMIM:617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	de novo;germline	11	105926824	TTATATCATCTTATACTGCTAACCTCGCTGCTTTCCTGACGGTTGAGCGAATGGTCTCTCC
781984979	446880	NM_003846.2(PEX11B):c.595C>T (p.Arg199Ter)	PEX11B	Jun 26, 2016	MedGen:C3554055,OMIM:614920	Peroxisome biogenesis disorder 14B	maternal	1	145912346	AAACTTCGGCTGCAAGTCCTGCTCCTGGCTCGAGTCCTTAGAGGTCATCCCCCACTTCTGC
779508996	411363	NM_003688.3(CASK):c.1837C>T (p.Arg613Ter)	CASK	Nov 10, 2017	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937;MedGen:CN517202	Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided	de novo;germline	X	41555605	GACTTGCCATCAACTACCCAACCAAAAGGACGACAGGTGAATAGATATCCTCTATAGAAAC
544349961	191076	NM_020166.4(MCCC1):c.1114C>T (p.Gln372Ter)	MCCC1	May 18, 2017	MedGen:CN028786,OMIM:210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	germline;unknown	3	183041720	ATTGCAGCAGGAGAGAAGATTCCTTTGAGCCAGGAAGAAATAACTCTGCAGGGCCATGCCT
28933082	29911	NM_000523.3(HOXD13):c.916C>T (p.Arg306Trp)	HOXD13	Nov 01, 2002	MedGen:C2699746,OMIM:186000,Orphanet:ORPHA93403	Synpolydactyly 1	germline	2	176094614	GCCATTAACAAATTCATTAACAAGGACAAGCGGCGGCGTATCTCGGCTGCTACGAACCTAT
121913048	31627	NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter)	ERCC3	Nov 01, 2006	MedGen:C1970808,OMIM:610651	Xeroderma pigmentosum, complementation group b	germline	2	127279270	ACCATGAACCCCAACAAATTTAGAGCTTGCCAGTTTCTGATCAAGTTTCATGAAAGGAGGA
1135402857	425143	NM_001042492.2(NF1):c.4339C>T (p.Gln1447Ter)	NF1	Feb 02, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31259038	TTATAACCCTGTTTTATTGTGTAGATACTTCAGAGTATTGCCAATCATGTTCTCTTCACAA
1060502505	400555	NM_152594.2(SPRED1):c.421C>T (p.Gln141Ter)	SPRED1	Sep 05, 2016	MedGen:C1969623,OMIM:611431,Orphanet:ORPHA137605	Legius syndrome	germline	15	38324807	AAAAATGAAGCTGAAGGGGCAGATGACTTACAAGTAAGTAATGGCTTGGAAGGAATTTGTA
397507384	46644	NM_000059.3(BRCA2):c.7235C>T (p.Thr2412Ile)	BRCA2	Feb 03, 2009	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32355088	CAACCAAAGTCTTTGTTCCACCTTTTAAAACTAAATCACATTTTCACAGAGTTGAACAGTG
797044955	205242	NM_002222.5(ITPR1):c.800C>T (p.Thr267Met)	ITPR1	Jun 27, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	3	4645673	GGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAG
576928842	169188	NM_001143979.1(NDE1):c.658C>T (p.Arg220Ter)	NDE1	Aug 13, 2013	MedGen:C3151461,OMIM:614019	Lissencephaly 4	germline	16	15691278	GGCTCCGTGCCGTCCACGCCCATTGCTCACCGAGGACCCAGCTCAAGTTTAAACACACCTG
63750743	15773	NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43	Mar 06, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1858379,OMIM:604400;MedGen:CN221565;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 5;Arrhythmogenic right ventricular dysplasia/cardiomyopathy;not provided	germline	3	14141665	TGAAAGCCTTTGCCTTCTGTGTGGCCACCTCGCTGACCCTGCTGACCGTGGCGGCTGGCTG
1085307081	227203	NM_015331.2(NCSTN):c.1300C>T (p.Arg434Ter)	NCSTN	Mar 18, 2016	MedGen:CN028850,OMIM:142690	Familial acne inversa 1	germline	1	160354238	CCATCTTCCCTGCAGCGATTTCTTCGAGCTCGAAACATCTCTGGCGTTGTTCTGGCTGACC
121909308	23566	NM_000178.3(GSS):c.799C>T (p.Arg267Trp)	GSS	Nov 01, 1996	Human Phenotype Ontology:HP:0003343,MedGen:C0398746,OMIM:266130,Orphanet:ORPHA289846,SNOMED CT:234589002	Gluthathione synthetase deficiency	germline	20	34935611	GATGGCCAGGAAATTGCTGTGGTTTACTTCCGGGATGGCTACATGCCTCGTCAGTACAGTC
121912592	17458	NM_001875.4(CPS1):c.1631C>T (p.Thr544Met)	CPS1	Jan 01, 1998	MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004	Congenital hyperammonemia, type I	germline	2	210600636	TGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACT
747010865	442461	NM_000216.3(ANOS1):c.1270C>T (p.Arg424Ter)	ANOS1	Apr 28, 2016	MedGen:CN517202	not provided	germline	X	8554036	ATTCAAACACAACTCCCTTTTCAAAGACGACGACCCACTCGCCCGCTGGAAGTCGGAGCTC
267607260	46921	NM_002437.4(MPV17):c.509C>T (p.Ser170Phe)	MPV17	May 17, 2012	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229	Navajo neurohepatopathy	not provided	2	27309934	GTGTTGCTGTTATCTGGAACTCCTACCTGTCCTGGAAGGCACATCGGCTCTAAGCCTGCCT
60297570	77559	NM_006121.3(KRT1):c.698C>T (p.Ser233Leu)	KRT1	Mar 20, 2015	MedGen:CN517202	not provided	germline	12	52678650	GAACCCATAATTTAGAGCCCTACTTTGAGTCATTCATCAACAATCTCCGAAGGAGAGTGGA
878853246	237750	NM_000162.4(GCK):c.112C>T (p.Gln38Ter)	GCK	Apr 13, 2016	MedGen:C1841962,OMIM:125851	Maturity-onset diabetes of the young,  type 2	inherited	7	44153397	GAGGACCTGAAGAAGGTGATGAGACGGATGCAGAAGGAGATGGACCGCGGCCTGAGGCTGG
868755574	243964	NM_018076.4(ARMC4):c.1969C>T (p.Gln657Ter)	ARMC4	Apr 03, 2013	MedGen:C3809548,OMIM:615451	Primary ciliary dyskinesia 23	germline	10	27940580	AACATGCTAATTCCAGTGGTGGGGACATTGCAAGAGTGTGCATCAGAGGTACTCATGCCAG
72551315	76799	NM_000784.3(CYP27A1):c.691C>T (p.Arg231Ter)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218812596	CTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCG
759900071	407740	NM_000136.2(FANCC):c.1069C>T (p.Gln357Ter)	FANCC	Nov 04, 2016	MedGen:CN517202	not provided	germline	9	95117318	TCTCTTGCCATGGTGCTGCTGCAAGACCCTCAAGGTGAGTTAGGGTTGACTTTGCCCACAT
886041378	264122	NM_003106.3(SOX2):c.181C>T (p.Gln61Ter)	SOX2	Aug 15, 2016	MedGen:CN517202	not provided	germline	3	181712541	TGGTCCCGCGGGCAGCGGCGCAAGATGGCCCAGGAGAACCCCAAGATGCACAACTCGGAGA
754867753	213410	NM_017950.3(CCDC40):c.961C>T (p.Arg321Ter)	CCDC40	Jul 04, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	80050085	TTGGTCCAGGTTGTGGCTACCAAGCAGAGCCGAGCCCAGCGGCAGGAGCTGGGGGTGAATC
387907085	40001	NM_001006657.1(WDR35):c.1633C>T (p.Arg545Ter)	WDR35	Apr 08, 2011	MedGen:C3279792,OMIM:614091	Short rib polydactyly syndrome 5	germline	2	19946495	GGTTTGATTCAAAAATATTCCCTTAATTGTCGAGCCTACCAGTTATCCTTGAATTGCAACT
772217003	481599	NM_020631.4(PLEKHG5):c.2053C>T (p.Gln685Ter)	PLEKHG5	Jul 10, 2017	MedGen:CN517202	not provided	germline	1	6469238	TCCCATGTACCCCAACCTTGCCTGCAGAACCAGCTGCAACAGCTGCGTGCACAGGAGCCCC
587784176	168249	NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp)	NSD1	Jul 15, 2014	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177283826	ATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACT
397514578	48352	NM_145239.2(PRRT2):c.562C>T (p.Gln188Ter)	PRRT2	Dec 13, 2012	MedGen:C1865926,OMIM:602066,Orphanet:ORPHA31709	Infantile convulsions and paroxysmal choreoathetosis, familial	germline	16	29813616	AAGCAAGAGAATGGGGCAGTGGTGCCCCTGCAGGCTGGTGATGGGGAAGAGGGCCCAGCCC
45517132	59085	NM_000548.4(TSC2):c.848+281C>T	TSC2	Dec 05, 2016	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2057459	TGCTCCCCAACTACTTAGCCTGTTACAAGGCGAGGCTCGGGGTCTTGGCTTGACGTTGCCC
764060752	443374	NM_007289.3(MME):c.877C>T (p.Arg293Ter)	MME	Aug 07, 2017	MedGen:CN517202	not provided	germline	3	155140212	AATCCATAGGCTACGGCTAAACCTGAAGATCGAAATGATCCAATGCTTCTGTATAACAAGA
121917847	27721	NM_003301.5(TRHR):c.49C>T (p.Arg17Ter)	TRHR	May 01, 1997	MedGen:C1861106	Thyrotropin-releasing hormone resistance, generalized	germline	8	109087561	AGTGAACTGAACCAAACACAGCTTCAGCCACGAGCAGTGGTGGCCTTAGAATACCAGGTGG
756414485	203882	NM_001184880.1(PCDH19):c.2656C>T (p.Arg886Ter)	PCDH19	Feb 16, 2017	MedGen:CN517202	not provided	germline	X	100350665	TATTCTTTTGACTCCAACTACGTGAATAGCCGAGCCCATTTAATCAAGAGGTATGTTGGTT
74315470	18112	NM_000487.5(ARSA):c.736C>T (p.Arg246Cys)	ARSA	Jun 19, 2014	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	germline;unknown	22	50626709	AGTGGGCAGAGCTTTGCAGAGCGTTCAGGCCGCGGGCCATTTGGGGACTCCCTGATGGAGC
761773115	216054	NM_000255.3(MUT):c.19C>T (p.Gln7Ter)	MUT	Dec 01, 2016	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459448	CCATGCTCCACCATGTTAAGAGCTAAGAATCAGCTTTTTTTACTTTCACCTCATTACCTGA
63751326	96616	NM_000251.2(MSH2):c.577C>T (p.Gln193Ter)	MSH2	Oct 18, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47410304	CAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCG
104894313	18816	NM_000372.4(TYR):c.1217C>T (p.Pro406Leu)	TYR	May 24, 2017	MedGen:C0078918,Orphanet:ORPHA55,SNOMED CT:63844009;MedGen:C1847024,OMIM:606952,Orphanet:ORPHA79434;MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Oculocutaneous albinism;Oculocutaneous albinism type 1B;Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89284805	TTTTTGAGCAGTGGCTCCGAAGGCACCGTCCTCTTCAAGAAGTTTATCCAGAAGCCAATGC
121434301	20518	NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser)	FBLN5	Jun 01, 2011	MedGen:C1837187,OMIM:608895	Age-related macular degeneration 3	germline	14	91937067	CGAGGGCCCTACTCGAACCCCTACTCGACCCCCTACTCAGGTCCGTACCCAGCAGCTGCCC
1057518697	361245	NM_004187.3(KDM5C):c.1439C>T (p.Pro480Leu)	KDM5C	Jul 26, 2017	MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279;MedGen:CN517202	Mental retardation, syndromic, Claes-Jensen type, X-linked;not provided	de novo;germline	X	53210820	CTACCAGTGGTTGGAACCTAAATGTGATGCCGGTGTTGGAACAGTCTGTACTGTGCCACAT
199422151	34421	NM_018136.4(ASPM):c.2938C>T (p.Arg980Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197125190	ATTTCATCTGAACATTTTATTACTGCCAGGCGAACCATGGAACTTCTCACACAGAACTGGG
794726860	190159	NM_003042.3(SLC6A1):c.863C>T (p.Ala288Val)	SLC6A1	Feb 16, 2016	MedGen:C4085238,OMIM:616421;MedGen:CN517202	Myoclonic-atonic epilepsy;not provided	germline	3	11025786	GATAATTCTGCCTATAGGTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCT
-1	456963	NM_001277115.1(DNAH11):c.4567C>T (p.Gln1523Ter)	DNAH11	May 16, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21635937	GAATATTTCATTGAGCAAGTGTTAAGCTGGCAAAATAAATTAAACATAGCAGACTTGGTCA
132630273	26162	NM_000377.2(WAS):c.134C>T (p.Thr45Met)	WAS	Jan 01, 2001	MedGen:C1839163,OMIM:313900,Orphanet:ORPHA852	Thrombocytopenia, X-linked	germline	X	48684284	CTCCACTGACCCCTGCTTTCCTCTCCCAGACGCTGGCCACTGCAGTTGTTCAGCTGTACCT
28933408	432550	NM_000461.4(THRB):c.1357C>T (p.Pro453Ser)	THRB	Nov 19, 2016	MedGen:C2937288,OMIM:188570;MedGen:CN517202	Thyroid hormone resistance, generalized, autosomal dominant;not provided	germline	3	24122913	AAGGTGGAATGCCCCACAGAACTCTTCCCCCCTTTGTTCTTGGAAGTGTTCGAGGATTAGA
137852456	25346	NM_000132.3(F8):c.6263C>T (p.Ser2088Phe)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154899876	TCAATGCCTGGAGCACCAAGGAGCCCTTTTCTTGGATCAAGGTTAGAAAATGTAATCAATG
61750240	26854	NM_004992.3(MECP2):c.808C>T (p.Arg270Ter)	MECP2	Oct 18, 2017	MedGen:C1845336,OMIM:300496;MedGen:CN221284;Gene:57790,MedGen:C1846058,OMIM:300260,Orphanet:ORPHA1762;MedGen:C1968550,OMIM:300055;MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;MedGen:CN517202	Autism, susceptibility to, X-linked 3;Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome;MECP2 duplication syndrome;Mental retardation, X-linked, syndromic 13;Mental retardation, X-linked, syndromic 13;Rett syndrome;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;Severe neonatal-onset encephalopathy with microcephaly;not provided	de novo;germline;unknown	X	154031020	GACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTG
797045164	204421	NM_001244008.1(KIF1A):c.646C>T (p.Arg216Cys)	KIF1A	Mar 16, 2017	MedGen:C3280283,OMIM:614255;MedGen:C1850055,OMIM:260565,Orphanet:ORPHA2836	Mental retardation, autosomal dominant 9;PEHO syndrome	de novo;germline	2	240785063	GCGGCCACCAACATGAATGAGACCAGCAGTCGCTCCCACGCCGTCTTCAACATCATCTTCA
72556278	103120	NM_000531.5(OTC):c.506C>T (p.Pro169Leu)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401394	TTATCAATGGGCTGTCAGATTTGTACCATCCTATCCAGATCCTGGCTGATTACCTCACGCT
121909562	33068	NM_000488.3(SERPINC1):c.481C>T (p.Arg161Ter)	SERPINC1	Jul 01, 1991	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173911942	ATCCACTTCTTCTTTGCCAAACTGAACTGCCGACTCTATCGAAAAGCCAACAAATCCTCCA
121918529	23988	NM_005587.3(MEF2A):c.836C>T (p.Pro279Leu)	MEF2A	Feb 01, 2006	na	Coronary artery disease/myocardial infarction	germline	15	99690400	GGAAACCAGATCTTCGAGTTGTCATCCCCCCTTCAAGCAAGGGCATGATGCCTCCACTAGT
758719615	243873	NM_001008537.2(NEXMIF):c.652C>T (p.Arg218Ter)	NEXMIF	Sep 14, 2017	MedGen:CN181337;MedGen:CN517202	Continuous spike and waves during slow-wave sleep syndrome;not provided	de novo;germline	X	74743905	CCCCTGCATAAGTCAAGGGCAGGAGACAGACGAGAAACTGAGAAACCTGACATTGACTTGG
397514641	48599	NM_000267.3(NF1):c.574C>T (p.Arg192Ter)	NF1	Sep 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline	17	31169985	TATATCAATGTGGATTGTGCAAAATTAAAACGACTCCTGAAGGGTAAGTTTAAATGTATAA
137854562	15400	NM_001042492.2(NF1):c.3721C>T (p.Arg1241Ter)	NF1	Sep 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline	17	31235623	ATTTTGTTTTGTTCTCAGGATGAACTAGCTCGAGTTCTGGTTACTCTGTTTGATTCTCGGC
794729174	198555	NM_000116.4(TAZ):c.526C>T (p.His176Tyr)	TAZ	Feb 22, 2012	MedGen:CN517202	not provided	germline	X	154419608	TTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGAC
1057517311	358182	NM_014363.5(SACS):c.5125C>T (p.Gln1709Ter)	SACS	Oct 04, 2016	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	unknown	13	23338751	AAAATTGAGGAAACCAACCCCAGTTTAGCACAAGATACAGTAATAATTAAAAAAAAATCCT
772552898	216045	NM_000255.3(MUT):c.1105C>T (p.Arg369Cys)	MUT	Mar 27, 2017	MedGen:C1855114,OMIM:251000;MedGen:CN517202	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	germline	6	49451693	ATATTTTAGGATCCCTACAATAATATTGTCCGTACTGCAATAGAAGCAATGGCAGCAGTAT
267606958	21565	NM_018129.3(PNPO):c.520C>T (p.Gln174Ter)	PNPO	Feb 01, 2008	MedGen:C1864723,OMIM:610090,Orphanet:ORPHA79096	Pyridoxal 5'-phosphate-dependent epilepsy	germline	17	47945963	AGCAGCCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGAGGTGA
118203995	16318	NM_173660.4(DOK7):c.601C>T (p.Arg201Ter)	DOK7	Sep 29, 2006	MedGen:C1850792,OMIM:254300	Myasthenia, limb-girdle, familial	germline	4	3485607	CAGATCAGCTTCCTGTTCGACTGCATCGTCCGAGGCATCTCCCCCACCAAGGGCCCCTTTG
137852944	19147	NM_138694.3(PKHD1):c.107C>T (p.Thr36Met)	PKHD1	Aug 08, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003;MedGen:C3149111;Human Phenotype Ontology:HP:0001562,MedGen:C0079924;Human Phenotype Ontology:HP:0001405,MedGen:C1849766;Human Phenotype Ontology:HP:0000113,MedGen:C0022680;MedGen:CN517202	Autosomal recessive polycystic kidney disease;Colorectal cancer, protection against;Oligohydramnios;Periportal fibrosis;Polycystic kidney dysplasia;not provided	germline;unknown	6	52083201	AACCTGAAGAAGGTAGCCTTGCAGGGGGAACGTGGATCACAGTCATTTTTGATGGTAGGTT
35103459	30028	NM_000184.2(HBG2):c.277C>T (p.His93Tyr)	HBG2	May 01, 1989	MedGen:C3151421,OMIM:613977,Orphanet:ORPHA280615	Cyanosis, transient neonatal	germline	11	5254330	AAGGGCACCTTTGCCCAGCTGAGTGAACTGCACTGTGACAAGCTGCATGTGGATCCTGAGA
104894675	21872	NM_016941.3(DLL3):c.712C>T (p.Arg238Ter)	DLL3	Jul 01, 2003	MedGen:CN032975,OMIM:277300	Spondylocostal dysostosis 1, autosomal recessive	germline	19	39504130	CATGGCTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACCCCTCT
150539474	420284	NM_001080397.2(SLC45A1):c.731C>T (p.Ala244Val)	SLC45A1	Jun 26, 2017	MedGen:CN277733,OMIM:617532	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES	germline	1	8325956	TGGTGCTGATGGACTTTAGCGCCGACTCGGCGGACAACCCCAGCCACGCCTACATGATGGA
121917993	79445	NM_006920.4(SCN1A):c.4753C>T (p.Arg1585Cys)	SCN1A	Sep 29, 2016	MedGen:C0014547,SNOMED CT:29753000;MedGen:CN517202	Focal epilepsy;not provided	germline;unknown	2	165994212	GGAGAGTGTGTACTGAAACTCATCTCTCTACGCCATTATTATTTTACCATTGGATGGAATA
120074139	17951	NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter)	SBF2	Aug 10, 2004	MedGen:C1858280	Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma	germline	11	9968482	GTTCCACGGCCAACAGAAGGATCCCATTTGCGAGTTCATATTCTTCCTTTCCCAGAGATTA
104894303	21931	NM_003002.3(SDHD):c.106C>T (p.Gln36Ter)	SDHD	Jul 25, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1868633,OMIM:168000	Hereditary cancer-predisposing syndrome;Paragangliomas 1	germline	11	112087910	GTCAGACCTGCTCATATCTCAGCATTTCTTCAGGACCGACCTATCCCAGAATGGTGTGGAG
1060502633	404533	NM_004006.2(DMD):c.8914C>T (p.Gln2972Ter)	DMD	Oct 31, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31478129	CCCGTGGGCGATCTCCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCAAGGTACCGT
1064793286	408687	NM_006009.3(TUBA1A):c.1168C>T (p.Arg390Cys)	TUBA1A	Feb 15, 2017	MedGen:CN517202	not provided	germline	12	49185198	AACACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCACAAGTTTGACCTGATGTATG
886040407	261120	NM_000059.3(BRCA2):c.2137C>T (p.Gln713Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32336492	ACCCCAGAAGCTGATTCTCTGTCATGCCTGCAGGAAGGACAGTGTGAAAATGATCCAAAAA
148942765	185740	NM_001029.4(RPS26):c.259C>T (p.Arg87Ter)	RPS26	May 19, 2015	MedGen:C2750080,OMIM:613309;MedGen:C1853576,OMIM:606164	Diamond-Blackfan anemia 10;Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	germline	12	56043440	TGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACAC
387906789	264328	NM_007126.4(VCP):c.475C>T (p.Arg159Cys)	VCP	Jul 26, 2016	MedGen:CN517202	not provided	germline	9	35065352	GGAGACATTTTTCTTGTCCGTGGTGGGATGCGTGCTGTGGAGTTCAAAGTGGTGGAAACAG
137854480	31500	NM_000138.4(FBN1):c.718C>T (p.Arg240Cys)	FBN1	Aug 01, 2017	MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED CT:254090007;MedGen:C1851286,OMIM:129600;MedGen:C1851286,OMIM:129600;MedGen:C3280054,OMIM:614185;MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715;MedGen:C4310796,OMIM:616914,Orphanet:ORPHA300382;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833;MedGen:C1869115,OMIM:608328,Orphanet:ORPHA2084;MedGen:CN517202	Acromicric dysplasia;Ectopia lentis, isolated, autosomal dominant;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan lipodystrophy syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;not provided	germline;unknown	15	48537629	CCCTGCCGCCGTGGCTTCATTCCAAATATCCGCACGGGAGCTTGTCAAGGTAAACCCGGGC
528961889	425309	NM_002016.1(FLG):c.7081C>T (p.Arg2361Ter)	FLG	Jun 13, 2017	MedGen:CN517202	not provided	germline	1	152307805	GCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTCCAGTGGTAGTCAGGCCAGTGACA
74315431	19845	NM_004738.4(VAPB):c.166C>T (p.Pro56Ser)	VAPB	May 01, 2012	MedGen:C1837728,OMIM:608627;MedGen:C1854059;MedGen:C1854058;MedGen:CN517202	Amyotrophic lateral sclerosis type 8;Amyotrophic lateral sclerosis, typical;Spinal muscular atrophy, late-onset, finkel type;not provided	germline	20	58418318	ACTACAGCACCACGTAGGTACTGTGTGAGGCCCAACAGCGGAATCATCGATGCAGGGGCCT
111033803	36644	NM_000155.3(GALT):c.986C>T (p.Ser329Phe)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649491	ACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTA
121909515	33397	NM_000080.3(CHRNE):c.991C>T (p.Arg331Trp)	CHRNE	Jul 01, 1996	MedGen:C1837091,OMIM:608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	germline	17	4899509	AATTGCGTCATCGTGCTCAACGTGTCCCAGCGGACGCCCACCACCCACGCCATGTCCCCGC
28937892	19551	NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)	WFS1	Oct 01, 1998	MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009	Diabetes mellitus AND insipidus with optic atrophy AND deafness	germline	4	6301306	GCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCT
137852557	24918	NM_000451.3(SHOX):c.502C>T (p.Arg168Trp)	SHOX	Mar 01, 2002	MedGen:C0432230,OMIM:249700,Orphanet:ORPHA2632,SNOMED CT:38494008;MedGen:C0265309,OMIM:127300	Langer mesomelic dysplasia syndrome;Leri Weill dyschondrosteosis	germline	X	640836	CTGCTTCTCCCCAAGGTTTGGTTCCAGAACCGGAGAGCCAAGTGCCGCAAACAAGAGAATC
121908511	20699	NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys)	SPAST	Sep 08, 2017	Human Phenotype Ontology:HP:0002313,MedGen:C0037771;MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985;MedGen:CN517202	Spastic paraparesis;Spastic paraplegia 4, autosomal dominant;not provided	germline;unknown	2	32141905	TTCTAAAAGTGCTGGATTTTTTTTTTTAGGCGTTTCATCAAACGGGTATATGTGTCTTTAC
201766106	360156	NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys)	ABCC6	Mar 21, 2016	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16214428	CTCCCACAGGGCTTCCAGAGCGACCCTGTCCGCCACCTGTCCACCTACCTATGCCTGTCTC
121909636	31332	NM_023110.2(FGFR1):c.2038C>T (p.Gln680Ter)	FGFR1	Nov 01, 2014	Human Phenotype Ontology:HP:0000823,MedGen:C1838105;MedGen:C1563720,OMIM:147950	Delayed puberty;Kallmann syndrome 2	germline;unknown	8	38414569	GAGGCATTATTTGACCGGATCTACACCCACCAGAGTGATGTGTGAGTTTGTAATAGCAATT
12156163	426530	NM_002052.4(GATA4):c.1146+177C>T	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11757260	ATTGAGCTGTGTGGTGCCCTCAGGGCCGCACGAGGCTAGGGGCATCTGCATCGGGCTGTAT
587784117	168183	NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter)	NSD1	Sep 13, 2015	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177246716	AAGATATTTGACAAGCCAAGGAAGCGAAAACGACAGAGGCATGCTGCAGCCAAGATGCAGT
398123036	70523	NM_015340.3(LARS2):c.1886C>T (p.Thr629Met)	LARS2	Apr 04, 2013	MedGen:C3809105,OMIM:615300	Perrault syndrome 4	germline	3	45516118	ATCTAGGTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAA
80356777	76548	NM_001876.3(CPT1A):c.1069C>T (p.Arg357Trp)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	not provided	11	68784909	CTCTACCATGATGGGCGGCTGCTGAAGCCCCGGGAGATGGAGCAGCAGATGCAGAGGATCC
140986055	40097	NM_174917.4(ACSF3):c.728C>T (p.Pro243Leu)	ACSF3	Aug 14, 2011	MedGen:C3280314,OMIM:614265,Orphanet:ORPHA289504	Combined malonic and methylmalonic aciduria	germline	16	89102665	CCAAAGACGACGTGATCCTCCACGTGCTCCCGCTGCACCACGTCCATGGTGTGGTCAACGC
397514636	48580	NM_001080463.1(DYNC2H1):c.7486C>T (p.Pro2496Ser)	DYNC2H1	Feb 20, 2013	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Short-rib thoracic dysplasia 3 with or without polydactyly	germline	11	103191565	GTTGATGATTATAGTCACTATTTCTTTACTCCTTGCATTCTTACCCAATGGGTTCTTGGCT
587776498	166207	NM_004092.3(ECHS1):c.5C>T (p.Ala2Val)	ECHS1	Feb 03, 2017	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C4225391,OMIM:616277;MedGen:CN517202	Leigh syndrome;Mitochondrial short-chain enoyl-coa hydratase 1 deficiency;not provided	germline;maternal	10	133373329	GGGCCGGGCGAGGAGTCCAGAGAGCCATGGCCGCCCTGCGTGTCCTGCTGTCCTGCGTCCG
137852217	25747	NM_152424.3(AMER1):c.1072C>T (p.Arg358Ter)	AMER1	Oct 10, 2017	MedGen:C0432268,OMIM:300373,Orphanet:ORPHA2780,SNOMED CT:254129003;MedGen:CN517202	Osteopathia striata with cranial sclerosis;not provided	germline;unknown	X	64192215	GGCCAGAGAGCAAACCGAGATGGGACCAAGCGAAGTTCCTGCCTGGTGACCTACCAAGGAG
587783971	168440	NM_133433.3(NIPBL):c.5335C>T (p.Arg1779Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37022057	AAAATGTCAATGTTTGCTTGGCAGATCCTACGAGTTCTTGGTGAAAATGCAATTGCTGTTC
267607994	96356	NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu)	MSH2	Sep 04, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Lynch syndrome;not specified	germline	2	47476448	TACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGA
794727924	196027	NM_014795.3(ZEB2):c.2701C>T (p.Gln901Ter)	ZEB2	Jun 04, 2014	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144398486	GCCAAACCTTTATACACAGCTCTTCCACCTCAAAGCGCATTTCCCCCTGCTACTTTCATGC
312262863	49478	NM_003611.2(OFD1):c.1099C>T (p.Arg367Ter)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13753411	CTGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAG
587780070	133272	NM_000546.5(TP53):c.535C>T (p.His179Tyr)	TP53	May 11, 2017	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MedGen:C0235782;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006739,MedGen:C0553723;MedGen:C0280630;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of stomach;Carcinoma of esophagus;Carcinoma of gallbladder;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Li-Fraumeni syndrome;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Small cell lung cancer;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Uterine Carcinosarcoma;not provided	germline;somatic	17	7675077	ATGACGGAGGTTGTGAGGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC
137853590	28667	NM_000294.2(PHKG2):c.130C>T (p.Arg44Ter)	PHKG2	Jan 01, 1998	MedGen:C2751643,OMIM:613027,Orphanet:ORPHA264580	Glycogen storage disease IXc	germline	16	30751140	GTGAGCTCTGTGGTCCGCCGTTGTGTTCATCGAGCTACTGGCCACGAGTTTGCGGTGAAGA
786205215	188056	NM_017763.5(RNF43):c.394C>T (p.Arg132Ter)	RNF43	Jul 19, 2017	MedGen:C3272797;MedGen:C4310714,OMIM:617108	Colon Serrated Polyposis;Sessile serrated polyposis cancer syndrome	germline	17	58363582	GTGCCTCTGCAGGCTCGGATGGCGGGTGAGCGAGGAGCCAGTGCTGTCCTCTTTGACATCA
80338878	34227	NM_003227.3(TFR2):c.313C>T (p.Arg105Ter)	TFR2	Jun 09, 2011	MedGen:C1858664,OMIM:604250,Orphanet:ORPHA225123	Hemochromatosis type 3	not provided	7	100640846	CCAGCCTTCCTACTGGGCTACGTCGCCTTCCGAGGGTCCTGCCAGGCGTGCGGAGACTCTG
137854440	15814	NM_198488.3(FAM83H):c.2029C>T (p.Gln677Ter)	FAM83H	Jan 01, 2012	MedGen:C0399376,OMIM:130900,Orphanet:ORPHA100032,SNOMED CT:109471001	Amelogenesis imperfecta, hypocalcification type	germline	8	143727432	TCATTCCGCTCGCGCCTGAACCCCCTGGTCCAGCGCAGCTCCAGGCTGCGCTCCTCGCTCA
387906993	39702	NM_133468.4(BMPER):c.1109C>T (p.Pro370Leu)	BMPER	Oct 08, 2010	MedGen:C1842691,OMIM:608022,Orphanet:ORPHA66637	Diaphanospondylodysostosis	germline	7	34078887	AGCCCGGCGTTTGCACGGTGTTTGGAGATCCCCACTACAACACTTTTGACGGTCGGACATT
756949497	213871	NM_004006.2(DMD):c.2797C>T (p.Gln933Ter)	DMD	May 13, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32484925	TCTGATGTGCAGGCCAGAGAGAAAGAGCTACAGACAAGTAAGTAAAAAGCCTAAAATGGCT
267606883	24710	m.6328C>T	MT-CO1	Mar 01, 2006	MedGen:CN069330	Cytochrome c oxidase i deficiency	germline	MT	6328	TAGCAGGGAACTACTCCCACCCTGGAGCCTCCGTAGACCTAACCATCTTCTCCTTACACCT
587777197	106831	NM_006612.5(KIF1C):c.2191C>T (p.Arg731Ter)	KIF1C	Mar 06, 2014	MedGen:C1969796,OMIM:611302,Orphanet:ORPHA397946	Ataxia, spastic, 2, autosomal recessive	germline	17	5022272	GCCCCTCGCAGGGTTTATCAGATCCCCCAGCGACGCAGGCTGCAGGGCAAAGACCCCCGCT
886039677	260233	NM_000516.5(GNAS):c.784C>T (p.Gln262Ter)	GNAS	Jun 21, 2016	MedGen:CN517202	not provided	germline	20	58909749	AGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACC
886039044	258630	NM_004281.3(BAG3):c.481C>T (p.Gln161Ter)	BAG3	Jun 19, 2015	MedGen:CN230736	Cardiovascular phenotype	germline	10	119670151	TGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCTCCCACGGACCTGAGGTAA
1057520764	378246	NM_004006.2(DMD):c.5758C>T (p.Gln1920Ter)	DMD	Apr 18, 2017	MedGen:CN517202	not provided	germline	X	32342264	TTTGCTCAATAGGAAATTGATCGGGAATTGCAGAAGAAGAAAGAGGAGCTGAATGCAGTGC
1114167424	414713	NM_177973.1(SULT2B1):c.446C>T (p.Pro149Leu)	SULT2B1	Jul 13, 2017	MedGen:C3536797,OMIM:242300;MedGen:CN317536,OMIM:617571	Autosomal recessive congenital ichthyosis 1;ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14	germline	19	48591631	GCACACAGGTGATCTACATGGGCCGCAACCCCCGGGACGTTGTGGTCTCCCTCTATCATTA
118204031	16534	NM_001039141.2(TRIOBP):c.3349C>T (p.Arg1117Ter)	TRIOBP	Jan 01, 2006	MedGen:C1853276,OMIM:609823	Deafness, autosomal recessive 28	germline	22	37725905	CAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCAC
137852448	25330	NM_000132.3(F8):c.5677C>T (p.Gln1893Ter)	F8	Nov 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904434	AACCCTGCTCATGGGAGACAAGTGACAGTACAGGAATTTGCTCTGTTTTTCACCATCTTTG
1057520565	377926	NM_013275.5(ANKRD11):c.7138C>T (p.Gln2380Ter)	ANKRD11	Apr 04, 2015	MedGen:CN517202	not provided	germline	16	89279404	AAGGCCCGCGGCTCCGAGGACGACGACGCCCAGGCCCAGCATCCGCGCAAACGCCGCTTTC
1057518204	360481	NM_001396.4(DYRK1A):c.349C>T (p.Arg117Ter)	DYRK1A	Nov 07, 2016	MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;MedGen:CN517202	Mental retardation, autosomal dominant 7;not provided	germline	21	37480659	TCATTTCAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATT
587784386	170180	NM_006517.4(SLC16A2):c.277C>T (p.Gln93Ter)	SLC16A2	Feb 08, 2013	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	germline	X	74421914	GTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGG
1064793483	408534	NM_015335.4(MED13L):c.2524C>T (p.Arg842Ter)	MED13L	Apr 16, 2015	MedGen:CN517202	not provided	germline	12	116003048	TCAAAAATGCCTGCAGTTGGGACAGAAGACCGACCTCTTGGGAAGGATGGAAGAGCTGCTG
587776976	59814	NM_001242896.1(DEPDC5):c.715C>T (p.Arg239Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364;MedGen:CN517202	Epilepsy, familial focal, with variable foci 1;not provided	germline;unknown	22	31792765	TCTATTTCAGATGAATTTCCTGAAATAAACCGAGCCTCAATTCGACAGGATCACAAGGGGA
797045057	205743	NM_022455.4(NSD1):c.5950C>T (p.Arg1984Ter)	NSD1	Sep 01, 2014	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	de novo	5	177282522	GAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCA
121434491	23111	NM_001039348.2(EFEMP1):c.1033C>T (p.Arg345Trp)	EFEMP1	Dec 01, 2011	MedGen:C1832174,OMIM:126600;MedGen:C1852020	Doyne honeycomb retinal dystrophy;Malattia leventinese	germline	2	55871091	ATAAATGAGTGTGAGACCACAAATGAATGCCGGGAGGATGAAATGTGTTGGAATTATCATG
121909660	31284	NM_000145.3(FSHR):c.1717C>T (p.Arg573Cys)	FSHR	Oct 01, 1998	MedGen:C0949595,OMIM:233300	Ovarian dysgenesis 1	germline	2	48963104	TCCTCCTCTAGTGACACCAGGATCGCCAAGCGCATGGCCATGCTCATCTTCACTGACTTCC
786204022	185775	NM_005957.4(MTHFR):c.1060C>T (p.His354Tyr)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11794835	AGGCGTCCCCTACCCTGGGCTCTCAGCGCCCACCCCAAGCGCCGAGAGGAAGATGTACGTC
863223998	210690	NM_000143.3(FH):c.736C>T (p.Gln246Ter)	FH	Oct 17, 2017	MedGen:CN517202	not provided	germline	1	241508605	ACTCAGGATGCTGTTCCACTTACTCTTGGGCAGGTATAGGAGTTTGACTAATTTGATTCAA
137852981	19794	NM_014795.3(ZEB2):c.2083C>T (p.Arg695Ter)	ZEB2	May 18, 2017	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152;MedGen:CN517202	Mowat-Wilson syndrome;not provided	germline;unknown	2	144399104	CAGGAATTTGTGAAGGAATGGTTTGAACAACGAAAAGTCTACCAGTACTCAAATTCCAGGT
63750355	16694	NM_014043.3(CHMP2B):c.493C>T (p.Gln165Ter)	CHMP2B	Oct 04, 2012	MedGen:C1833296,OMIM:600795;MedGen:CN517202	Frontotemporal Dementia, Chromosome 3-Linked;not provided	germline	3	87253472	GACGAAGAAGAAAGCCAGGATATTGTGAATCAAGTTCTTGATGAAATTGGAATTGAAATTT
121918338	18445	NM_052813.4(CARD9):c.883C>T (p.Gln295Ter)	CARD9	Oct 29, 2009	MedGen:C1859353,OMIM:212050,Orphanet:ORPHA457088	Candidiasis, familial, 2	germline	9	136370362	GAGGACTGGCGGCAGGCGCTGCGGGACCACCAGGAGCAGGCCAACACCATCTTCTCCCTGC
137852888	17820	NM_000158.3(GBE1):c.1570C>T (p.Arg524Ter)	GBE1	Apr 06, 2017	MedGen:C1856305,Orphanet:ORPHA308698;MedGen:C1856301;MedGen:C0017923,OMIM:232500,SNOMED CT:11179002;MedGen:CN517202	Glycogen storage disease IV, childhood neuromuscular;Glycogen storage disease IV, classic hepatic;Glycogen storage disease, type IV;not provided	germline	3	81577973	GATCGTGGAATACAGCTTCATAAAATGATTCGACTCATTACGCATGGGCTTGGTGGAGAAG
121909077	22402	NM_003322.5(TULP1):c.1444C>T (p.Arg482Trp)	TULP1	Jul 01, 2007	MedGen:C1838603,OMIM:600132	Retinitis pigmentosa 14	germline	6	35500032	AGTGGCTCCTACACCCTCAACTTCCAAGGCCGGGTCACCCAGGCCTCAGTCAAGAACTTCC
886041447	265117	NM_001849.3(COL6A2):c.244C>T (p.Gln82Ter)	COL6A2	Dec 31, 2015	MedGen:CN517202	not provided	germline	21	46112107	CAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGC
149682171	192124	NM_007171.3(POMT1):c.1958C>T (p.Pro653Leu)	POMT1	Apr 17, 2015	MedGen:CN033898,OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	germline	9	131522113	GTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCT
886040313	261984	NM_007294.3(BRCA1):c.718C>T (p.Gln240Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43094813	GAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTG
28730837	18669	NM_000250.1(MPO):c.995C>T (p.Ala332Val)	MPO	May 01, 2004	MedGen:C0398595,OMIM:254600,Orphanet:ORPHA2587,SNOMED CT:129644003,SNOMED CT:234433009	Myeloperoxidase deficiency	germline	17	58278036	GCAACATCACCATCCGCAACCAGATCAACGCGCTCACTTCCTTCGTGGACGCCAGCATGGT
777202372	263881	NM_030813.5(CLPB):c.748C>T (p.Arg250Ter)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72358997	TGTGTTGCTGTCTCCCCAGTCCTGATCACCCGAGAGGATGACTTCAACAACAGGCTGAACA
141026028	197110	NM_004415.3(DSP):c.6496C>T (p.Arg2166Ter)	DSP	Aug 16, 2016	MedGen:CN517202	not provided	germline	6	7583758	AGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAG
886039453	259731	NM_025216.2(WNT10A):c.742C>T (p.Arg248Ter)	WNT10A	Jul 04, 2016	MedGen:CN517202	not provided	germline	2	218890349	ATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCC
753242774	362139	NM_138615.2(DHX30):c.2344C>T (p.Arg782Trp)	DHX30	Dec 18, 2017	Human Phenotype Ontology:HP:0002353,MedGen:C0151611;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0001290,MedGen:C1858120;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001007,MedGen:C0019572;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:CN703736,OMIM:617804;Human Phenotype Ontology:HP:0004322,MedGen:C0349588	EEG abnormality;Failure to thrive;Generalized hypotonia;Global developmental delay;Hirsutism;Intellectual disability;Microcephaly;NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE;Short stature	de novo;germline	3	47848237	TCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCT
886039818	260580	NM_000812.3(GABRB1):c.860C>T (p.Thr287Ile)	GABRB1	Oct 12, 2016	MedGen:C4310691,OMIM:617153	Epileptic encephalopathy, early infantile, 45	germline	4	47406706	TCACAGGAATCACGACAGTGCTTACAATGACAACCATCAGCACCCACCTCAGGGAGACCCT
989552169	454701	NM_032446.2(MEGF10):c.3166C>T (p.Arg1056Ter)	MEGF10	Oct 31, 2016	MedGen:C3280679,OMIM:614399,Orphanet:ORPHA439212	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	germline	5	127455541	TGTGGTTATGTGGAGATGAAATCGCCGGCACGAAGAGATTCCCCATATGCAGAGATCAATA
387906896	39411	NM_015331.2(NCSTN):c.349C>T (p.Arg117Ter)	NCSTN	Nov 19, 2010	MedGen:CN028850,OMIM:142690	Familial acne inversa 1	germline	1	160349583	TTAATGGAGAAGCTGAAAGGGAGAACCAGCCGAATTGCTGGTCTTGCAGTGTCCTTGACCA
387907232	44209	NM_012343.3(NNT):c.1598C>T (p.Ala533Val)	NNT	Jul 20, 2012	MedGen:C3553587,OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	germline	5	43649300	TCCACTCACCACTGATGTCTGTGACAAATGCAATCTCAGGTTTGTTCCTCTCTTGTTTTTC
193922415	45572	NM_000377.2(WAS):c.37C>T (p.Arg13Ter)	WAS	Aug 18, 2011	MedGen:C0043194,OMIM:277970,OMIM:301000,Orphanet:ORPHA906,SNOMED CT:36070007	Wiskott-Aldrich syndrome	germline	X	48683890	GGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATAC
121909086	22349	NM_004560.3(ROR2):c.613C>T (p.Arg205Ter)	ROR2	Aug 01, 2000	MedGen:C1849334,OMIM:268310,Orphanet:ORPHA1507	Robinow syndrome, autosomal recessive	germline	9	91737400	TCGCTTCAGATGCAGGGGGAGATTGAAAACCGAATCACAGGTAGGAGCTGCAGACCTTTCT
864309727	216028	NM_172250.2(MMAA):c.358C>T (p.Gln120Ter)	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145639497	TCAACTCACAGCAGGAAAAAGGAGTTAGCCCAGGTGCTTCTTCAGAAAGTATTACTTTACC
730880699	179188	NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter)	MYBPC3	Jun 23, 2015	MedGen:CN517202	not provided	germline	11	47332640	CTGGACTTCTCCGAGGCCCCAAGCTTCACCCAGCCCCTGGTGAACCGCTCGGTCATCGCGG
72551316	76803	NM_000784.3(CYP27A1):c.745C>T (p.Gln249Ter)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218812650	ACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCA
121913413	32626	NM_001904.3(CTNNB1):c.122C>T (p.Thr41Ile)	CTNNB1	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;MeSH:D015179,MedGen:CN236642;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0030434,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:ORPHA91414	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adrenocortical carcinoma;Colorectal Neoplasms;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Pancreatic adenocarcinoma;Pilomatrixoma	somatic	3	41224634	TGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAA
757797994	481990	NM_000448.2(RAG1):c.2689C>T (p.Arg897Ter)	RAG1	Jul 19, 2017	MedGen:CN517202	not provided	germline	11	36575993	GATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAG
587784050	168520	NM_133433.3(NIPBL):c.7849C>T (p.Gln2617Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37061007	ACAGAAGAGGTGAAAAGGAGTATAGTAAAACAGTATCTAGATGTGAGTAGTAAAACCAAAA
132630310	26072	NM_001399.4(EDA):c.67C>T (p.Gln23Ter)	EDA	Feb 01, 1998	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005	Hypohidrotic X-linked ectodermal dysplasia	germline	X	69616375	CCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCC
794728808	196747	NM_001035.2(RYR2):c.14704C>T (p.Pro4902Ser)	RYR2	Aug 07, 2012	MedGen:CN517202	not provided	germline	1	237830578	GGGATAGGCAATGATTACTTCGACACAGTGCCACATGGCTTTGAAACCCACACTTTACAGG
281865493	47591	NM_004614.4(TK2):c.388C>T (p.Arg130Trp)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560	Mitochondrial DNA depletion syndrome 2	not provided	16	66529055	CTTTTTGTTTTCCTTTAGGTGTCATCTGTACGGTTGATGGAGAGGTCGATTCACAGCGCAA
727503845	177445	NM_033018.3(CDK16):c.1258C>T (p.Arg420Ter)	CDK16	Mar 13, 2014	MedGen:CN517202	not provided	germline	X	47227098	CGAGCCGAGGCCCTTTTGAGCCACGCACCCCGGTGAGGCTGGTGGGTGGGTGGGCGTTAGG
886041677	264170	NM_015175.2(NBEAL2):c.3592C>T (p.Gln1198Ter)	NBEAL2	Apr 08, 2016	MedGen:CN517202	not provided	germline	3	46999363	CAGAATGAGCGGCTACCTGAGCGGAGCCGCCAGCGCCTCCGGCTGCGGGAGTGTGGTCTCC
536907995	137626	NM_007194.3(CHEK2):c.58C>T (p.Gln20Ter)	CHEK2	Jun 05, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	germline;unknown	22	28734664	CAGCAGTCTCATGGCAGCAGTGCCTGTTCACAGCCCCATGGCAGCGTTACCCAGTCCCAAG
796052812	203921	NM_001184880.1(PCDH19):c.1114C>T (p.Arg372Trp)	PCDH19	Apr 24, 2014	MedGen:CN517202	not provided	germline	X	100407484	GCCCCCCCGGGCTACGTGATCGCCTTGGTGCGGGTGTCTGATCGCGACTCAGGCCTCAATG
863224074	210808	NM_002437.4(MPV17):c.370C>T (p.Gln124Ter)	MPV17	Feb 11, 2015	MedGen:CN517202	not provided	germline	2	27312499	CTGTCAGCCCAGGACAACTGGGCCAAACTACAGCGGGTGAGCTGGGCAGGTGTGGAGAATG
199476205	47864	NM_207352.3(CYP4V2):c.1526C>T (p.Pro509Leu)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186210589	TTGGTCTAGAAGGACAGTTGATTCTTCGTCCAAGTAATGGCATCTGGATCAAGTTGAAGAG
199925463	38823	NM_002875.4(RAD51):c.760C>T (p.Arg254Ter)	RAD51	Dec 20, 2017	MedGen:C3281089,OMIM:614508	Mirror movements 2	germline	15	40729620	CACTTGGCCAGGTTTCTGCGGATGCTTCTGCGACTCGCTGATGAGGTAAGTTGTGGGATAG
878854407	227839	NM_177433.2(MAGED2):c.1336C>T (p.Arg446Cys)	MAGED2	Sep 23, 2016	MedGen:C4310820,OMIM:300971	Bartter syndrome, type 5, antenatal, transient	germline	X	54814725	CCCCCTGAATATGAGTTCTTCTGGGGCCTGCGCTCTTACTATGAGACCAGCAAGATGAAAG
61753256	105454	NM_000372.4(TYR):c.346C>T (p.Arg116Ter)	TYR	Mar 20, 2017	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178299	GGCTTTTGGGGACCAAACTGCACAGAGAGACGACTCTTGGTGAGAAGAAACATCTTCGATT
187558439	244305	NM_002977.3(SCN9A):c.4462C>T (p.Arg1488Ter)	SCN9A	Jun 05, 2015	MedGen:CN517202	not provided	germline	2	166204368	GGGTCCAAGAAGCCACAAAAGCCAATTCCTCGACCAGGGGTAAAAAAATATATATATCTTT
397514539	48181	NM_152269.4(C12orf65):c.394C>T (p.Arg132Ter)	C12orf65	Jan 27, 2013	MedGen:C3539506,OMIM:615035,Orphanet:ORPHA320375	Spastic paraplegia 55, autosomal recessive	germline	12	123256924	GGTGAAAACAGTCCTGTTCACAAAGAAAAACGAGAAGCGGCGAAGAAAAAACAAGAAAGGA
397514652	48690	NM_000693.3(ALDH1A3):c.265C>T (p.Arg89Cys)	ALDH1A3	Feb 07, 2013	MedGen:C3554524,OMIM:615113	Microphthalmia, isolated 8	germline	15	100887632	CAGGTTGCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGC
267606992	16640	NM_030916.2(NECTIN4):c.554C>T (p.Thr185Met)	NECTIN4	Aug 13, 2010	MedGen:C3150807,OMIM:613573,Orphanet:ORPHA247820	Ectodermal dysplasia-syndactyly syndrome 1	germline	1	161077629	GCAGCCCAGCCCCCAGCGTGACCTGGGACACGGAGGTCAAAGGCACAACGTCCAGCCGTTC
397508336	68102	NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117592220	GCTCCTGTCTCCTGGACAGAAACAAAAAAACAATCTTTTAAACAGACTGGAGAGTTTGGGG
28928901	29531	NM_005572.3(LMNA):c.664C>T (p.His222Tyr)	LMNA	Jan 17, 2013	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;not provided	germline	1	156134829	TTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATG
886038916	258019	NM_133378.4(TTN):c.81313C>T (p.Arg27105Ter)	TTN	Feb 06, 2017	MedGen:CN230736;MedGen:CN517202	Cardiovascular phenotype;not provided	germline	2	178554094	AGTGATATAAGTGGCTATTTCCTTGAAAAACGAGACAAGAAGAGCCTAGGATGGTTTAAAG
796053004	201506	NM_001165963.1(SCN1A):c.3985C>T (p.Arg1329Ter)	SCN1A	Oct 24, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline	2	166009736	AGAGCTCTGAGACCTCTAAGAGCCTTATCTCGATTTGAAGGGATGAGGGTAAGAAAAATGA
118192172	28003	NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys)	RYR1	Aug 08, 2017	MedGen:CN031421,OMIM:145600;MedGen:CN239331;MedGen:CN517202	Malignant hyperthermia, susceptibility to, 1;RYR1-Related Disorders;not provided	germline;unknown	19	38457545	TCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATTACTGAGAACT
780953224	458486	NM_017780.3(CHD7):c.1735C>T (p.Gln579Ter)	CHD7	Apr 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60781069	GATATGACTCAGGTTAGTGGACCGAATGCTCAGCTAGTGAAGAGTGATGATTACCTGCCAT
879255639	247538	NM_001458.4(FLNC):c.4871C>T (p.Ser1624Leu)	FLNC	Jul 21, 2016	MedGen:CN237821	Cardiomyopathy, familial restrictive, 5	germline	7	128848926	TCAAGTATGGCGGTGATGAGATCCCCTACTCGCCCTTCCGCATCCATGCTCTGCCCACTGG
199867882	152869	NM_016247.3(IMPG2):c.3262C>T (p.Arg1088Ter)	IMPG2	Oct 31, 2017	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:CN517202	Retinitis pigmentosa;not provided	germline	3	101231117	AGGTGCCGGGTGGGTGAGAACTGGTGGTACCGAGGCAAGCACTGTGAGGAATTTGTGTCTG
137854583	15878	NM_000038.5(APC):c.622C>T (p.Gln208Ter)	APC	Jul 07, 2016	MedGen:C0017097,Orphanet:ORPHA79665,SNOMED CT:60876000;MedGen:C0027672,SNOMED CT:699346009	Gardner syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	5	112780880	GTTGCGATGGAAGAACAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAGGTAAGTT
121909717	31208	NM_002055.4(GFAP):c.1246C>T (p.Arg416Trp)	GFAP	Oct 25, 2017	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	de novo;germline	17	44908075	AGGAACATCGTGGTGAAGACCGTGGAGATGCGGGATGGAGAGGTAAGGAGGGATTTGGGCC
28935473	26798	NM_001110556.1(FLNA):c.3596C>T (p.Ser1199Leu)	FLNA	Dec 23, 2016	MedGen:C0025237,OMIM:309350,Orphanet:ORPHA2484,SNOMED CT:13449007;MedGen:C1844696,OMIM:304120,Orphanet:ORPHA90652,SNOMED CT:42432003	Melnick-Needles syndrome;Oto-palato-digital syndrome, type II	germline	X	154360199	GCAGCGCGGAGCTGACCATTGAGATCTGCTCGGAGGCGGGGCTTCCGGCCGAGGTGTACAT
1064793765	410363	NM_030632.2(ASXL3):c.3364C>T (p.Gln1122Ter)	ASXL3	Jul 10, 2015	MedGen:CN517202	not provided	germline	18	33743212	GCAAAGCATCAAGCTCGAGCCCATCTCTTCCAGACCTCTAAAGAGACCCGGTTGCCTCCTC
886040685	261393	NM_000059.3(BRCA2):c.7033C>T (p.Gln2345Ter)	BRCA2	Sep 25, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32354886	TGCAGCACAACTAAGGAACGTCAAGAGATACAGAATCCAAATTTTACCGCACCTGGTCAAG
111687884	51571	NM_000138.4(FBN1):c.643C>T (p.Arg215Ter)	FBN1	Feb 24, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN169374	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	germline	15	48537704	ACAAAAACGCTCTGCTGTGCCACAGTCGGCCGAGCCTGGGGCCACCCCTGTGAGATGTGTC
202166344	210710	NM_000143.3(FH):c.7C>T (p.Arg3Ter)	FH	Apr 17, 2013	MedGen:CN517202	not provided	germline	1	241519716	TTCTACCCAAGCTCCCTCAGCACCATGTACCGAGCACTTCGGCTCCTCGCGCGCTCGCGTC
35983258	30072	NM_000559.2(HBG1):c.-53-196C>T	HBG1	Jan 01, 1992	MedGen:C1841621,OMIM:141749	Fetal hemoglobin quantitative trait locus 1	germline	11	5250053	AATTAGCAGTATCCTCTTGGGGGCCCCTTCCCCACACTATCTCAATGCAAATATCTGTCTG
398123530	99358	NM_001005741.2(GBA):c.508C>T (p.Arg170Cys)	GBA	Oct 16, 2013	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155238597	GTACCCATGGCCAGCTGTGACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATG
140353201	101743	NM_017890.4(VPS13B):c.3598C>T (p.Arg1200Ter)	VPS13B	Sep 17, 2015	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99467566	CAAAAACTGCTTGCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCATGTTG
781540455	199072	NM_001256850.1(TTN):c.65239C>T (p.Arg21747Ter)	TTN	May 22, 2017	MedGen:C1858763,OMIM:604145;MedGen:CN517202	Dilated cardiomyopathy 1G;not provided	germline	2	178575970	TGGACCAAAGATAACATCAACCTGAAAAACCGAGCCAACATTGAAAATACGGAATCATTTA
765070743	275494	NM_000027.3(AGA):c.319C>T (p.Arg107Ter)	AGA	Sep 20, 2016	Human Phenotype Ontology:HP:0012068,MedGen:C0268225,OMIM:208400	Aspartylglucosaminuria	germline	4	177439651	ATGGATGTAGGAGCAGTAGGAGATCTCAGACGAATTAAAAATGCTATTGGTGTGGCACGGA
387907027	39803	NM_001029871.3(RSPO4):c.190C>T (p.Arg64Cys)	RSPO4	Apr 01, 2008	MedGen:C0265998,OMIM:206800,Orphanet:ORPHA79143,SNOMED CT:23610003	Anonychia	germline	20	968028	CTCTTCCTGTTCATCCGCCGGGAAGGCATCCGCCAGTACGGCAAGTGCCTGCACGACTGTC
398123883	100404	NM_004006.2(DMD):c.2332C>T (p.Gln778Ter)	DMD	Mar 02, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32501803	CGAGAAAAAGCTGAGAAGTTCAGAAAACTGCAAGATGCCAGCAGATCAGCTCAGGCCCTGG
886041971	265174	NM_001008537.2(NEXMIF):c.1042C>T (p.Arg348Ter)	NEXMIF	Sep 13, 2016	MedGen:CN517202	not provided	germline	X	74743515	TTTCCCAGCGTCTTTACTACCTGCCCCAAGCGAGAGTCTAAGAGTGGGGCCCTGAAGCAGA
794727957	196177	NM_000411.7(HLCS):c.1624C>T (p.Gln542Ter)	HLCS	Apr 09, 2015	MedGen:C0268581,OMIM:253270,Orphanet:ORPHA79242	Holocarboxylase synthetase deficiency	germline	21	36765068	TCCCAGCTGGGACAGAGGATCCCGTTTGTCCAGCATCTGATGTCCGTGGCTGTCGTGGAAG
794729384	198911	NM_001256850.1(TTN):c.81193C>T (p.Arg27065Ter)	TTN	Sep 09, 2014	MedGen:CN517202	not provided	germline	2	178560016	ACTGACTGGAAAACTTCCATTCAGAGCTTACGAGGGACAGAATATACAATAAGCGGACTAA
866429868	360620	NM_000444.5(PHEX):c.871C>T (p.Arg291Ter)	PHEX	Apr 17, 2015	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline;maternal	X	22096976	TTTCAACAGATAATGATTCCACATGAAAACCGAACCAGCGAGGCCATGTACAACAAAATGA
606231310	170214	NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter)	SLC16A1	Nov 13, 2014	MedGen:C4016683	Monocarboxylate transporter 1 deficiency, autosomal recessive	germline	1	112917424	CTTGTAGCCAACACAAAGCCAATAAGACCTCGAATTCAGTATTTCTTTGCGGCTTCCGTTG
886041298	264805	NM_000194.2(HPRT1):c.145C>T (p.Leu49Phe)	HPRT1	Sep 24, 2015	MedGen:CN517202	not provided	germline	X	134475191	TCCTGATTTTATTTCTGTAGGACTGAACGTCTTGCTCGAGATGTGATGAAGGAGATGGGAG
797045113	205129	NM_206933.2(USH2A):c.4405C>T (p.Gln1469Ter)	USH2A	Nov 21, 2014	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216175474	ACAGGTGTTTTCTAATATTTAGCACCAGCACAACTGAGGCCACCTCTGGTTAAAGGAATCA
80357372	69781	NM_007294.3(BRCA1):c.415C>T (p.Gln139Ter)	BRCA1	Jul 27, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43104148	GGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGGTAA
45619342	417647	NM_005267.4(GJA8):c.827C>T (p.Ser276Phe)	GJA8	Feb 01, 2008	MedGen:C1861828,OMIM:116200	Cataract 1	germline	1	147908782	ATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGAT
121909743	31132	NM_000340.1(SLC2A2):c.901C>T (p.Arg301Ter)	SLC2A2	Jan 01, 2002	MedGen:C3495427,OMIM:227810,Orphanet:ORPHA2088,SNOMED CT:61598006	Fanconi-Bickel syndrome	germline	3	171005347	ATAATTCAGCTCTTCACCAATTCCAGCTACCGACAGCCTATTCTAGTGGCACTGATGCTGC
-1	425581	NM_001080517.2(SETD5):c.3526C>T (p.Arg1176Ter)	SETD5	May 05, 2017	MedGen:CN517202	not provided	germline	3	9474477	AGGATGGTTCCCACATCAGTAGAACGACTCCGAGAAGGAGGGAGCATCCCCAAGGTCCTCC
587777528	143261	NM_032790.3(ORAI1):c.734C>T (p.Pro245Leu)	ORAI1	Mar 18, 2014	MedGen:C4014557,OMIM:615883	Myopathy, tubular aggregate, 2	germline	12	121641471	CTGCCATCGCCTCGACCACCATCATGGTGCCCTTCGGCCTGATCTTTATCGTCTTCGCCGT
398123865	100375	NM_004006.2(DMD):c.1615C>T (p.Arg539Ter)	DMD	Sep 11, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32573834	TGATTGTCTCTTCTCCAGGTATTGGGAGATCGATGGGCAAACATCTGTAGATGGACAGAAG
-1	470905	NM_000044.4(AR):c.292C>T (p.Gln98Ter)	AR	Jul 20, 2016	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:C1839259,OMIM:313200,Orphanet:ORPHA481	Androgen resistance syndrome;Bulbo-spinal atrophy X-linked	germline	X	67545438	CAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACC
74315357	17446	NM_032409.2(PINK1):c.736C>T (p.Arg246Ter)	PINK1	Sep 01, 2004	MedGen:C1853833,OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	germline	1	20639952	ACAATGAGCCAGGAGCTGGTCCCAGCGAGCCGAGTGGCCTTGGCTGGGGAGTATGGAGCAG
72551318	76810	NM_000784.3(CYP27A1):c.808C>T (p.Arg270Ter)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000;MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease;Cholestanol storage disease	germline	2	218812713	TGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTT
774312182	237617	NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)	STRC	Feb 19, 2016	Gene:1694,MedGen:C1858916,OMIM:603964;MedGen:CN517202	Deafness, autosomal dominant 16;not provided	germline	15	43604720	CAGATCCTGCTGTCCCATCTCAGTCAGCTGCAAGGCTTCTGCCTAGGAGAGACATTTGCCA
180177370	78984	NM_017890.4(VPS13B):c.8318C>T (p.Ser2773Leu)	VPS13B	-	MedGen:CN517202	not provided	germline	8	99817685	ACTGCCTCACAGCCAAACAGAAATTGCCTTCGTACATACTAGAAAACAATGAACTGACGGA
121908373	20175	NM_020533.2(MCOLN1):c.304C>T (p.Arg102Ter)	MCOLN1	Sep 18, 2017	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001;MedGen:CN517202	Mucolipidosis type IV;not provided	germline	19	7526505	ACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACG
80356779	76552	NM_001876.3(CPT1A):c.1436C>T (p.Pro479Leu)	CPT1A	Sep 05, 2017	MedGen:C1829703,Orphanet:ORPHA156;MedGen:C0342789,OMIM:255120,SNOMED CT:238001003;MedGen:CN517202	Carnitine palmitoyl transferase 1 deficiency;Carnitine palmitoyltransferase I deficiency;not provided	germline	11	68780662	TCAACGCTGAACACTCCTGGGCAGATGCGCCGATCGTGGCCCACCTTTGGGAGGTGAGTTT
28942084	18741	NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu)	LDLR	Jun 19, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;inherited;not applicable	19	11120436	GCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTAC
121434421	21794	NM_004572.3(PKP2):c.2203C>T (p.Arg735Ter)	PKP2	Aug 25, 2016	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1836906,OMIM:609040	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9	germline	12	32802499	GTCCAGAAGGAAAGTGGCCTGCAGCACACCCGAAAGATGCTGCATGTTGGTGACCCAAGTG
398122365	94433	NM_152269.4(C12orf65):c.415C>T (p.Gln139Ter)	C12orf65	Nov 22, 2013	MedGen:C3539506,OMIM:615035,Orphanet:ORPHA320375	Spastic paraplegia 55, autosomal recessive	germline	12	123256945	AAAGAAAAACGAGAAGCGGCGAAGAAAAAACAAGAAAGGAAAAAAAGAGCAAAGGAAACCC
369251527	460080	NM_020549.4(CHAT):c.1642C>T (p.Arg548Ter)	CHAT	Jun 05, 2017	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49655102	CATTCATCCTTCATCCCACGCAGGCTCCATCGAAGACTGGTGCCCACCTACGAGAGCGCGT
879254210	390794	NM_014874.3(MFN2):c.703C>T (p.Gln235Ter)	MFN2	Dec 05, 2016	MedGen:CN043576	Charcot-Marie-Tooth disease, type 2	germline	1	11998873	CTGGTGGCCAACTCAGAGTCCACCCTGATGCAGACGGTAACTCCTCCTCTGCCTTCTCCCA
374913800	481553	NM_144499.2(GNAT1):c.904C>T (p.Gln302Ter)	GNAT1	Feb 07, 2018	MedGen:C4225345,OMIM:616389	Night blindness, congenital stationary, type 1g	germline	3	50194806	TACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACG
757976755	188107	NM_014362.3(HIBCH):c.196C>T (p.Arg66Trp)	HIBCH	Aug 01, 2015	MedGen:C0342738,OMIM:250620,Orphanet:ORPHA88639,SNOMED CT:237958002	Beta-hydroxyisobutyryl-CoA deacylase deficiency	germline;inherited	2	190296836	TTCCTCAATGCACTGACTCTTAATATGATTCGGCAGATTTATCCACAGCTAAAGGTTTGTA
-1	427106	NM_006297.2(XRCC1):c.1393C>T (p.Gln465Ter)	XRCC1	Aug 22, 2017	MedGen:CN417133,OMIM:617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	germline	19	43546628	GAAGAGACCAAAGCAGCCTCACCAGTGCTCCAGGAAGATATAGACATTGAGGGGGTACAGT
121918292	17753	NM_017671.4(FERMT1):c.787C>T (p.Gln263Ter)	FERMT1	Apr 15, 2003	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6107594	TCCTCACGCTCCCTTATGGAACAAGGCATCCAAGAGGATGAGCAGCTGCTCTTACGATTTA
397515490	77882	NM_015284.3(SZT2):c.2092C>T (p.Gln698Ter)	SZT2	Sep 05, 2013	MedGen:C3809624,OMIM:615476	Early infantile epileptic encephalopathy 18	germline	1	43423153	ATCCTGCGGCTGCGTTTCCCCCACCGGGTACAAAGCAAGGAGCCAACGCCCAAGGTGAAAC
137852498	25112	NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile)	HPRT1	Jan 01, 1990	MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	germline	X	134498407	TTGTAATTAACAGCTTGCTGGTGAAAAGGACCCCACGAAGTGTTGGATATAAGCCAGACTG
-1	481995	NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter)	MYBPC3	Jul 07, 2017	MedGen:CN517202	not provided	germline	11	47343069	CAGTGCTCATTGGCGGACGACGCAGCCTACCAGTGCGTGGTGGGTGGCGAGAAGTGTAGCA
74315439	31996	NM_000394.3(CRYAA):c.346C>T (p.Arg116Cys)	CRYAA	Feb 01, 2007	MedGen:C1858679,OMIM:604219	Cataract, autosomal dominant	germline	21	43172104	GACCACGGCTACATTTCCCGTGAGTTCCACCGCCGCTACCGCCTGCCGTCCAACGTGGACC
181690344	169625	NM_006031.5(PCNT):c.1468C>T (p.Gln490Ter)	PCNT	Feb 08, 2013	MedGen:C0432246,OMIM:210720,Orphanet:ORPHA2637	Microcephalic osteodysplastic primordial dwarfism type 2	germline	21	46353115	TGACTCCGTTATGTTGCAGAGCTACATGAGCAACTCCTGGCGCGCACCTCTCGTGTGGAAG
575767207	214325	NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter)	CEP290	Feb 23, 2015	MedGen:C1857780,OMIM:610188	Joubert syndrome 5	unknown	12	88079112	GCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGGTGAACATCA
1057518717	361173	NM_015311.2(OBSL1):c.3955C>T (p.Gln1319Ter)	OBSL1	May 01, 2016	MedGen:C2752041,OMIM:612921	Three M syndrome 2	germline;paternal	2	219557454	CTGGCAAGCCAGGGGCGGGTGCAGCTGGAGCAGGCCGGGGCCAGGCAGGTGCTGCGGGTGC
780960812	259361	NM_001242896.1(DEPDC5):c.1909C>T (p.Arg637Ter)	DEPDC5	Jun 28, 2017	Gene:50987,MedGen:C1858477,OMIM:604364;MedGen:CN517202	Epilepsy, familial focal, with variable foci 1;not provided	germline	22	31821540	GGAGAAGCCATCCAGATCCACCACCAGACCCGACAGAATATGGCGGAGCTACAAGGCAGCG
368619022	143186	NM_016122.2(CEP83):c.241C>T (p.Gln81Ter)	CEP83	Jun 05, 2014	MedGen:C3890591,OMIM:615862	Nephronophthisis 18	germline	12	94411780	AAGCACCTGTTTAATGAAAAGCAAACTCAGCAGGAAAAACTTCAGCTCCTGCTTGAAGAAC
-1	444704	NM_000051.3(ATM):c.652C>T (p.Gln218Ter)	ATM	Aug 31, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108244108	AAATTTTTGGACTTTTTTTCCAAGGCTATTCAGTGTGCGAGGTAATCTAATCTCTTTTTCT
398124156	100980	NM_004463.2(FGD1):c.1468C>T (p.Gln490Ter)	FGD1	Jan 21, 2013	MedGen:C0175701,OMIM:305400,SNOMED CT:14921002	Aarskog syndrome	germline	X	54465725	CTGGTCAACACCTGGACAGAGCGCTCCACCCAGTTTAAAGTCATCATCCATGAGGTGCAGG
767748011	361893	NM_022916.5(VPS33A):c.1492C>T (p.Arg498Trp)	VPS33A	Jan 20, 2017	MedGen:C4310627,OMIM:617303	Mucopolysaccharidosis-plus syndrome	germline	12	122232917	GTGTACAGTGGGTATGCCCCGCTCAGTGTGCGGCTGGCCCAGCTGCTTTCCCGGCCTGGCT
121908621	21060	NM_005476.5(GNE):c.796C>T (p.Arg266Trp)	GNE	Oct 18, 2012	MedGen:C0342853,OMIM:269921,Orphanet:ORPHA3166,SNOMED CT:238051008	Sialuria	germline	9	36234106	ATAGGGAGCAAAGAGATGGTTCGAGTGATGCGGAAGAAGGGCATTGAGCATCATCCCAACT
121908518	440716	NM_014946.3(SPAST):c.1684C>T (p.Arg562Ter)	SPAST	Dec 07, 2015	MedGen:CN517202	not provided	germline	2	32145004	TTGGCAAAAGATGCAGCACTGGGTCCTATCCGAGGTAGGTATACAAGAGCTTAAAACATTT
745874032	359547	NM_000094.3(COL7A1):c.7012C>T (p.Arg2338Ter)	COL7A1	Jul 31, 2015	MedGen:CN517202	not provided	germline	3	48572138	GCCAAAGGTGACCGAGGACTGCCAGGGCCGCGAGGCGAGAAGGTGAGGTGGGTTGGCCCTG
-1	434321	NM_000527.4(LDLR):c.1943C>T (p.Ser648Phe)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120189	ATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCT
-1	427889	NM_014795.3(ZEB2):c.1489C>T (p.Gln497Ter)	ZEB2	Jan 12, 2016	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144399698	AAAGGTTATCACATGAAGGATCCATGCTCTCAACCTGAGGAACAAGGAGTTACTTCTCCTA
1057517992	359952	NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter)	KMT2D	Oct 20, 2016	MedGen:CN517202	not provided	germline	12	49031861	GGCCCCCTCCAGGAGCTAGGGGCAGGGCCTCGACCTCAGGGCCCACCCCGGCTCCCTGCCC
121434577	31617	NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter)	ERCC5	Jun 01, 2002	MedGen:C0268141,OMIM:278780,SNOMED CT:36454001	Xeroderma pigmentosum, group G	germline	13	102854313	TCCAGAGATGAAGCACTACCCAGTCTTACCCAAGTTCGAAGAGAAAACGACCTCTATGTTT
119456965	17664	NM_001037633.1(SIL1):c.331C>T (p.Arg111Ter)	SIL1	Mar 01, 2007	MedGen:C0024814,OMIM:248800,Orphanet:ORPHA559,SNOMED CT:80734006	Marinesco-Sjögren syndrome	germline	5	139050960	GAGGCAAAACTCCAATATGAGGACAAGTTCCGAAATAATTTGAAAGGCAAAAGGTACAGTG
80338905	34233	NM_003383.4(VLDLR):c.1342C>T (p.Arg448Ter)	VLDLR	Aug 26, 2008	MedGen:CN074243,OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	germline	9	2645603	GGCAAAGAGCCAAGTCTGATCTTCACTAATCGAAGAGACATCAGGAAGATTGGCTTAGAGA
1057518297	359638	NM_003060.3(SLC22A5):c.1252C>T (p.Gln418Ter)	SLC22A5	May 24, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline	5	132390889	TTCCTGGGTGGCAGTGTCCTTCTCTTCATGCAGCTGGTACCCCCAGGTAGGGACCATGTGC
119461974	17971	NM_002076.3(GNS):c.1063C>T (p.Arg355Ter)	GNS	Jan 01, 2003	MedGen:C0086650,OMIM:252940,Orphanet:ORPHA79272,SNOMED CT:15892005	Mucopolysaccharidosis, MPS-III-D	germline	12	64737039	GAGTTTGATATCAAAGTTCCACTGTTGGTTCGAGGACCTGGGATCAAACCAAATCAGACAA
121434389	20790	NM_000975.4(RPL11):c.223C>T (p.Arg75Ter)	RPL11	Dec 01, 2008	MedGen:C2675512,OMIM:612562	Diamond-Blackfan anemia 7	germline	1	23693872	AATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGA
886039418	259995	NM_130799.2(MEN1):c.1192C>T (p.Gln398Ter)	MEN1	Mar 30, 2016	MedGen:CN517202	not provided	germline	11	64805192	TGCCCTCCCTTCCCCCTCGTCCAGGGCACCCAGAGCCAAGGTTCCGCCCTCCAGGACCCTG
61622935	31211	NM_002055.4(GFAP):c.262C>T (p.Arg88Cys)	GFAP	Oct 03, 2016	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915225	GACCGCTTTGCCAGCTACATCGAGAAGGTTCGCTTCCTGGAACAGCAAAACAAGGCGCTGG
-1	439841	NM_014806.4(RUSC2):c.3952C>T (p.Arg1318Ter)	RUSC2	Nov 27, 2017	MedGen:CN651335,OMIM:617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	germline	9	35560592	GGTGGGGGACCTCCCCAGGCTCCACCACCCCGAGAGGGAGTAGTGGAGGGGGCTGAGGCCT
-1	442363	NM_001184880.1(PCDH19):c.169C>T (p.Gln57Ter)	PCDH19	Sep 22, 2016	MedGen:CN517202	not provided	germline	X	100408429	CGAGAGGCGGGCTTCGCGCTGGACCCCCGGCAGGCTTCAGCCTTTCGCGTGGTGTCCAACT
886043603	271482	NM_000214.2(JAG1):c.841C>T (p.Gln281Ter)	JAG1	Feb 28, 2017	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10652513	TGCGTCCACGGCATCTGTAATGAGCCCTGGCAGTGCCTCTGTGAGACCAACTGGGGCGGCC
200370925	15152	NM_022067.3(VIPAS39):c.658C>T (p.Arg220Ter)	VIPAS39	Apr 01, 2010	MedGen:C3150672,OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	germline	14	77442636	ACAGAGATCCTCTTCCGAGAGCTGGAGGTGCGACAGGTTGCCCTGAGACATCTTATTCACT
34451549	30497	NM_000518.4(HBB):c.316-197C>T	HBB	Jun 16, 2017	MedGen:C0599528;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:C0271980,SNOMED CT:86715000;MedGen:CN169374	Beta thalassemia major;beta Thalassemia;beta^0^ Thalassemia;not specified	germline;unknown	11	5225923	AGAATAACAGTGATAATTTCTGGGTTAAGGCAATAGCAATATCTCTGCATATAAATATTTC
137853089	22837	NM_004482.3(GALNT3):c.1441C>T (p.Gln481Ter)	GALNT3	Jan 01, 2007	MedGen:C1876187,OMIM:211900,OMIM:610233,Orphanet:ORPHA306661	Tumoral calcinosis, familial, hyperphosphatemic	germline	2	165755015	TCAAAAAGATTTGAAATAAAACACCGCCTTCAGTGTAAAAATTTTACATGGTATCTGAACA
113994022	19478	NM_020365.4(EIF2B3):c.260C>T (p.Ala87Val)	EIF2B3	Feb 01, 2002	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	1	44978349	GTATTCCTGATGACGCTGACATGGGAACTGCAGATTCTTTGCGCTACATATATCCAAAACT
397508168	67872	NM_000492.3(CFTR):c.115C>T (p.Gln39Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117504314	AGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATC
912448894	434222	NM_000527.4(LDLR):c.431C>T (p.Pro144Leu)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105337	GCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCA
118203958	16172	NM_001142617.1(STRA6):c.878C>T (p.Pro293Leu)	STRA6	Mar 01, 2007	MedGen:C1832661,OMIM:601186,Orphanet:ORPHA2470	Microphthalmia syndromic 9	germline	15	74190889	TTCCTTTGAGGACTACAGGATTCCATCTCCCGCTGAAGCTGGTGCTTTCAGCTACACTGAC
730882034	180115	NM_000551.3(VHL):c.257C>T (p.Pro86Leu)	VHL	Sep 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	germline	3	10142104	TCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCA
121918238	16471	NM_001177317.1(SLC34A3):c.1402C>T (p.Arg468Trp)	SLC34A3	Nov 19, 2013	MedGen:C0342645,OMIM:241530,SNOMED CT:237891005	Autosomal recessive hypophosphatemic bone disease	germline;paternal	9	137236018	ATCCTGCTGTGGTACCTGGTGCCTGCACTGCGGCTGCCCATCCCGCTGGCCAGGCACTTCG
386134243	45135	NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp)	LMNA	Jun 15, 2017	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856;MedGen:CN043576;MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973;MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;MedGen:C0796031,OMIM:212112,Orphanet:ORPHA2229;MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855;MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:C1857829,OMIM:610140,Orphanet:ORPHA168796;MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004;MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED CT:400128006;MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264;MedGen:C0432291,OMIM:248370,Orphanet:ORPHA2457,SNOMED CT:109419009;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Charcot-Marie-Tooth disease type 2B1;Charcot-Marie-Tooth disease, type 2;Congenital muscular dystrophy, LMNA-related;Dilated cardiomyopathy 1A;Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Familial partial lipodystrophy 2;Heart-hand syndrome, Slovenian type;Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Limb-girdle muscular dystrophy, type 1B;Mandibuloacral dysostosis;Primary dilated cardiomyopathy;not provided	germline;unknown	1	156135967	GACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGA
281875328	38543	NM_001614.3(ACTG1):c.760C>T (p.Arg254Trp)	ACTG1	Sep 17, 2015	MedGen:C3281235,OMIM:614583;MedGen:CN517202	Baraitser-Winter Syndrome 2;not provided	germline	17	81511230	GATGGCCAGGTCATCACCATTGGCAATGAGCGGTTCCGGTGTCCGGAGGCGCTGTTCCAGC
63751421	95595	NM_000249.3(MLH1):c.256C>T (p.Gln86Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37001003	GTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCTTTGAGGATTTAGCCAGTATTTCTA
63750508	96279	NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter)	MSH2	Aug 24, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	2	47475126	GTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAA
387907190	40337	NM_017755.5(NSUN2):c.679C>T (p.Gln227Ter)	NSUN2	May 04, 2012	MedGen:C1970199,OMIM:611091	Mental retardation, autosomal recessive 5	germline	5	6620242	GACAACAAGCGCTGCTACCTGCTCGTCCATCAAGCCAAGAGGCTGAGCAGCCCCTGCATCA
121434528	33317	NM_001613.2(ACTA2):c.772C>T (p.Arg258Cys)	ACTA2	Aug 01, 2017	MedGen:C2673186,OMIM:611788;MedGen:C3279690,OMIM:614042;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;Thoracic aortic aneurysm and aortic dissection;not provided	germline	10	88939543	CAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCT
886042651	267771	NM_001844.4(COL2A1):c.3574C>T (p.Arg1192Ter)	COL2A1	Sep 29, 2015	MedGen:C2020284,OMIM:108300	Stickler syndrome type 1	germline	12	47975986	GGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTAAGTG
121918343	20415	NM_005989.3(AKR1D1):c.316C>T (p.Leu106Phe)	AKR1D1	Oct 01, 2003	MedGen:C1856127,OMIM:235555,Orphanet:ORPHA79303	Bile acid synthesis defect, congenital, 2	germline	7	138091822	GAGATGGTCCGCCCAACCCTGGAGAGGACACTCAGGGTCCTCCAGCTAGATTATGTGGATC
80338752	24494	NM_004525.2(LRP2):c.10195C>T (p.Arg3399Ter)	LRP2	Jun 28, 2011	MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143	Donnai Barrow syndrome	germline	2	169178001	TGCAGGTACTCTGATTTGGAGGGCCACCATCGACACACGGTGTATGATGGGGCACTGCCTC
-1	482232	NM_002294.2(LAMP2):c.718C>T (p.Gln240Ter)	LAMP2	Sep 27, 2017	MedGen:CN517202	not provided	germline	X	120447864	GATACTTGTCTGCTGGCTACCATGGGGCTGCAGCTGAACATCACTCAGGATAAGGTATAGG
886041116	263863	NM_001282531.2(ADNP):c.2188C>T (p.Arg730Ter)	ADNP	Sep 30, 2016	Human Phenotype Ontology:HP:0000164,MedGen:C0262444;Human Phenotype Ontology:HP:0001274,MedGen:C1837248;Human Phenotype Ontology:HP:0000718,MedGen:C0001807,SNOMED CT:61372001;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000824,MedGen:C3714796;MedGen:C4014538,OMIM:615873,Orphanet:ORPHA404448;Human Phenotype Ontology:HP:0000821,MedGen:C0020676,Orphanet:ORPHA181396;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0000733,MedGen:C0038273;MedGen:CN517202	Abnormality of the teeth;Agenesis of corpus callosum;Aggressive behavior;Global developmental delay;Growth hormone deficiency;Helsmoortel-van der aa syndrome;Hypothyroidism;Seizures;Stereotypy;not provided	de novo;germline;unknown	20	50892526	GAGCAAATGGAATTTCCCTTACTGAAAAAACGAAAGTTAGATGATGATAGTGATTCACCCA
28939680	22517	NM_001540.4(HSPB1):c.404C>T (p.Ser135Phe)	HSPB1	Nov 18, 2008	MedGen:C1847823,OMIM:606595,Orphanet:ORPHA99940;MedGen:C2608087,OMIM:608634	Charcot-Marie-Tooth disease type 2F;Distal hereditary motor neuronopathy type 2B	germline	7	76303841	AGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGT
121909358	23672	NM_000163.4(GHR):c.181C>T (p.Arg61Ter)	GHR	May 25, 2014	MedGen:C0271568,OMIM:262500,Orphanet:ORPHA633,SNOMED CT:38196001	Laron-type isolated somatotropin defect	germline;inherited	5	42688934	CCTAAATTCACCAAGTGCCGTTCACCTGAGCGAGAGACTTTTTCATGCCACTGGACAGATG
104893900	24043	NM_004387.3(NKX2-5):c.533C>T (p.Thr178Met)	NKX2-5	Jul 15, 2005	MedGen:C1862388,OMIM:108900	Atrial septal defect 7 with or without atrioventricular conduction defects	germline	5	173233011	GCGACCAGCTGGCCAGCGTGCTGAAACTCACGTCCACGCAGGTCAAGATCTGGTTCCAGAA
-1	472251	NM_004312.2(ARR3):c.298C>T (p.Arg100Ter)	ARR3	Dec 22, 2017	MedGen:CN708878,OMIM:301010	MYOPIA 26, X-LINKED, FEMALE-LIMITED	germline	X	70276234	CCTCAGGGGCCCCTCACAGTCCTACAGGAGCGACTACTGCACAAGCTAGGGGACAATGCCT
121918712	27561	NM_004612.3(TGFBR1):c.599C>T (p.Thr200Ile)	TGFBR1	Mar 01, 2005	MedGen:C2697933,OMIM:609192	Loeys-Dietz syndrome 1	germline	9	99137883	CTTTAGGTTTACCATTGCTTGTTCAGAGAACAATTGCGAGAACTATTGTGTTACAAGAAAG
74315391	22425	NM_172107.3(KCNQ2):c.619C>T (p.Arg207Trp)	KCNQ2	Aug 19, 2016	MedGen:C1852587,OMIM:121200;MedGen:C3149075;MedGen:CN517202	Benign familial neonatal seizures 1;Seizures, benign familial neonatal, 1, and/or myokymia;not provided	germline	20	63444730	CTCCGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCA
745918507	455093	NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter)	DNAH5	Apr 04, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13820424	GTCATCCAGCTATTCGAAACGCAGAGAGTGCGACATGGGATGATGACTCTGGGGCCCAGTG
759081373	407062	NM_000238.3(KCNH2):c.1726C>T (p.Gln576Ter)	KCNH2	Jun 23, 2015	MedGen:CN517202	not provided	germline	7	150951667	TGCATCTGGTACGCCATCGGCAACATGGAGCAGCCACACATGGACTCACGCATCGGCTGGC
1085307401	414369	NM_001204.6(BMPR2):c.2752C>T (p.Q918*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202556417	AATCCATGTTCAGAACAAGATGTTCTTGCACAGGGTGTTCCAAGCACAGCAGCAGATCCTG
587783836	169996	NM_000252.2(MTM1):c.557C>T (p.Thr186Ile)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641297	AGGGCTTGCCCAATCACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGA
80338937	34552	NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter)	SH3TC2	Mar 31, 2008	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949	Charcot-Marie-Tooth disease, type 4C	not provided	5	149006955	AAGACCCTGTCCCTCTGTCCACCATGGCTGCAGAGTCCCAAGGAGGCCCTGTACTATGCCA
779823379	214185	NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15580046	CAAGCTGAATGTGCCTTAAAGTTTCCAAATCGTCAGTGCCTTACAACAGTAATTGATATAA
879254367	245311	NM_000527.4(LDLR):c.-152C>T	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089397	GCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACC
1057518233	359812	NM_016628.4(WAC):c.1072C>T (p.Gln358Ter)	WAC	Nov 23, 2016	MedGen:CN517202	not provided	germline	10	28608338	GTTCCACAGTCGCCAATACCTCCCTTACTTCAGGACCCAAATCTTCTTAGACAATTGCTTC
193922770	136853	NM_000540.2(RYR1):c.1654C>T (p.Arg552Trp)	RYR1	Mar 22, 2017	MedGen:CN239331;MedGen:CN517202	RYR1-Related Disorders;not provided	germline;unknown	19	38455528	AACTTGGACTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCGTCTGGTAGGAGAACCC
587782010	151501	NM_000059.3(BRCA2):c.8608C>T (p.Gln2870Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32371076	AAGAGACTAGAAGCCTTATTCACTAAAATTCAGGAGGAATTTGAAGAACATGAAGGTAAAA
121912778	32634	NM_000550.2(TYRP1):c.1120C>T (p.Arg374Ter)	TYRP1	Aug 01, 2005	MedGen:C1859932,OMIM:203290	Oculocutaneous albinism type 3	germline	9	12704564	GACCCCACGGGAAAGTATGACCCTGCTGTTCGAAGTCTTCACAATTTGGCTCATCTATTCC
121912855	32502	NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1	Jun 14, 2017	Human Phenotype Ontology:HP:0008066,MedGen:C0241054;Human Phenotype Ontology:HP:0000682,MedGen:C4021800;Human Phenotype Ontology:HP:0000164,MedGen:C0262444;Human Phenotype Ontology:HP:0002293,MedGen:C1860137;Human Phenotype Ontology:HP:0004325,MedGen:CN003826;Human Phenotype Ontology:HP:0002460,MedGen:C1864696;Human Phenotype Ontology:HP:0003457,MedGen:C0476403;MedGen:C2673612;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0000953,MedGen:C0162834,Orphanet:ORPHA79375;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0008404,MedGen:C0221260;Human Phenotype Ontology:HP:0100699,MedGen:C0008767;Human Phenotype Ontology:HP:0004552,MedGen:C3806301;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;MedGen:CN517202	Abnormal blistering of the skin;Abnormality of dental enamel;Abnormality of the teeth;Alopecia of scalp;Decreased body weight;Distal muscle weakness;EMG abnormality;Epidermolysis bullosa dystrophica inversa, autosomal recessive;Failure to thrive;Hyperpigmentation of the skin;Microcephaly;Nail dystrophy;Scarring;Scarring alopecia of scalp;Short stature;not provided	germline;unknown	3	48575218	TTTCAGGGAGAACGGGGAGAGAAAGGAGAACGTGGAGAACAGGTGGGCTGCGATGGGCTTC
281875325	38540	NM_001614.3(ACTG1):c.359C>T (p.Thr120Ile)	ACTG1	Sep 17, 2015	MedGen:C3281235,OMIM:614583;MedGen:CN517202	Baraitser-Winter Syndrome 2;not provided	germline	17	81511907	TGAACCCCAAGGCCAACAGAGAGAAGATGACTCAGGTGAGGCTCGGCCGACGCCCGTGCTC
118204011	16712	NM_000785.3(CYP27B1):c.1027C>T (p.Leu343Phe)	CYP27B1	Mar 01, 2013	MedGen:C0268689,OMIM:264700,Orphanet:ORPHA289157,SNOMED CT:67049004	Vitamin D-dependent rickets, type 1	germline	12	57764487	CTCTCCCGGCACCCCGAAGTCCAGACAGCACTCCACTCAGAGATCACAGCTGCCCTGAGCC
72549395	272963	NM_003742.2(ABCB11):c.3457C>T (p.Arg1153Cys)	ABCB11	Jun 09, 2016	MedGen:C2608083,OMIM:605479,Orphanet:ORPHA99961;MedGen:C1866138,OMIM:601847	Benign recurrent intrahepatic cholestasis 2;Progressive familial intrahepatic cholestasis 2	germline	2	168927317	GACAGCAAAAAAGTAAATGTCCAGTTCCTCCGCTCAAACATTGGAATTGTTTCCCAGGAAC
28940570	17776	NM_004183.3(BEST1):c.728C>T (p.Ala243Val)	BEST1	Apr 01, 2000	MedGen:C0339510,OMIM:153700,Orphanet:ORPHA1243,SNOMED CT:90036004;MedGen:CN517202	Vitelliform macular dystrophy type 2;not provided	germline	11	61958159	CCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGT
886039500	259810	NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter)	DNAH5	Oct 29, 2015	MedGen:CN517202	not provided	germline	5	13754317	CTTTGTTAGACCTTGCTTGAAGATGCAGAGCGATGCAGACACAAGATGCAGACAGCTTCCA
587783658	169275	NM_005682.6(ADGRG1):c.265C>T (p.His89Tyr)	ADGRG1	Feb 08, 2013	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline	16	57651400	CGATCCTTCCCTGACCCCAGGGGCCTCTACCACTTCTGCCTCTACTGGAACCGACATGCTG
796052626	203788	NM_172107.3(KCNQ2):c.628C>T (p.Arg210Cys)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63444721	CTGCGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGC
1085307766	415462	NM_001271.3(CHD2):c.982C>T (p.Gln328Ter)	CHD2	Apr 06, 2017	MedGen:CN517202	not provided	germline	15	92942998	CACAGCACATGGGAGAGTGAAGAATCCTTACAGCAACAGAAAGTGAAGGGCCTAAAAAAAC
773883764	483114	NM_178170.2(NEK8):c.1804C>T (p.Arg602Trp)	NEK8	Feb 14, 2018	MedGen:C3809434,OMIM:615415	Renal-hepatic-pancreatic dysplasia 2	germline	17	28741149	CAGTTGGGCACCAATACTCGCCGAGGCAGTCGGGCACCCTGTAAGGTCCAAGGCCTTGAGG
121913077	31540	NM_000043.5(FAS):c.817C>T (p.Gln273Ter)	FAS	Jun 16, 1995	MedGen:C1866119	Autoimmune lymphoproliferative syndrome, type 1a	germline	10	89014259	AAGAATGACAATGTCCAAGACACAGCAGAACAGAAAGTTCAACTGCTTCGTAATTGGCATC
132630278	26112	NM_001128834.2(PLP1):c.646C>T (p.Pro216Ser)	PLP1	Sep 28, 2012	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000;MedGen:CN517202	Pelizaeus-Merzbacher disease;not provided	germline	X	103788460	TACTTAGGTGTTCTCCCATGGAATGCTTTCCCTGGCAAGGTTTGTGGCTCCAACCTTCTGT
387907222	44197	NM_018475.4(TMEM165):c.376C>T (p.Arg126Cys)	TMEM165	Jul 18, 2012	MedGen:C3553571,OMIM:614727,Orphanet:ORPHA314667	Congenital disorder of glycosylation type 2k	germline	4	55411782	ATAGCAGCCATCATGGCAATGCGCTATAACCGCCTGACCGTGCTGGCTGGTGCAATGCTTG
121908371	20172	NM_020533.2(MCOLN1):c.964C>T (p.Arg322Ter)	MCOLN1	Jun 03, 2016	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001;MedGen:CN517202	Mucolipidosis type IV;not provided	germline;unknown	19	7528683	TCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTC
1057518891	360900	NM_017780.3(CHD7):c.6892C>T (p.Gln2298Ter)	CHD7	Sep 18, 2014	Human Phenotype Ontology:HP:0000268,MedGen:C0221358;Human Phenotype Ontology:HP:0000821,MedGen:C0020676,Orphanet:ORPHA181396;Human Phenotype Ontology:HP:0000545,MedGen:C0027092,Orphanet:ORPHA98619;Human Phenotype Ontology:HP:0002370,MedGen:C0563243;Human Phenotype Ontology:HP:0001730,MedGen:C1842138;Human Phenotype Ontology:HP:0002650,MedGen:C0037932	Dolichocephaly;Hypothyroidism;Myopia;Poor coordination;Progressive hearing impairment;Scoliosis	unknown	8	60854479	TACATGGAGGACGGAGATCCTTCAGTAGCTCAGCTCCTTCATGAAAGAACATTTGCCTTCT
61748425	153336	NM_004992.3(MECP2):c.508C>T (p.Gln170Ter)	MECP2	Feb 18, 2008	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	de novo;unknown	X	154031320	ACTGGGAGAGGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCA
104894743	26227	NM_139058.2(ARX):c.1058C>T (p.Pro353Leu)	ARX	Aug 13, 2002	MedGen:C3463992,OMIM:308350	Epileptic encephalopathy, early infantile, 1	germline	X	25012937	TGGAGCGGGCCTTCCAGAAGACGCACTACCCGGACGTCTTCACCAGGTATGCGCGTAGGGT
368263958	177106	NM_138694.3(PKHD1):c.6499C>T (p.Gln2167Ter)	PKHD1	Jan 16, 2014	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51909466	TGGACTTTATTTTGCATTTCAGGTAATCTGCAGCACTGTTTGTATTCCATGAGTGAGAAGA
137853320	26512	NM_005448.2(BMP15):c.631C>T (p.Gln211Ter)	BMP15	May 01, 2006	MedGen:C1845295	Premature ovarian failure 4	germline	X	50916059	AGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTCT
764719093	207110	NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter)	CC2D2A	Mar 04, 2014	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	germline	4	15557361	CCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAAT
137853007	20631	NM_007194.3(CHEK2):c.433C>T (p.Arg145Trp)	CHEK2	Sep 11, 2017	MedGen:CN239278;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:C1836482,OMIM:609265;MedGen:CN517202;MedGen:CN169374	CHEK2-Related Cancer Susceptibility;Familial cancer of breast;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 2;not provided;not specified	germline;unknown	22	28725254	AAATACCGAACATACAGCAAGAAACACTTTCGGATTTTCAGGGTAGGTAATGAATACCCAT
757674263	226935	NM_052867.3(NALCN):c.2203C>T (p.Arg735Ter)	NALCN	Apr 17, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	13	101111216	GGCTCCTTTTTTTTTCCTAGAGCTTGCACCCGACAGCGCATGCTGAGCGGATCATTTGAGG
72554309	103000	NM_000531.5(OTC):c.127C>T (p.Leu43Phe)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367340	AATAAAGTGCAGCTGAAGGGCCGTGACCTTCTCACTCTAAAAAACTTTACCGGAGAAGAAA
201230446	31840	NM_001361.4(DHODH):c.403C>T (p.Arg135Cys)	DHODH	Oct 03, 2016	MedGen:C0265257,OMIM:263750,SNOMED CT:66038001;MedGen:CN517202	Miller syndrome;not provided	germline	16	72014641	CAGGAAGGAAACCCTAGACCCAGAGTCTTCCGCCTCCCTGAGGACCAAGCTGTCATTAACA
820878	18921	NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)	HEXB	Apr 01, 1995	MedGen:C1849322	Sandhoff disease, infantile type	germline	5	74685445	CGGGGCCGGCGCTGTGGCCCCTGCCGCTCTTGGTGAAGATGACCCCGAACCTGCTGCATCT
587783832	169992	NM_000252.2(MTM1):c.535C>T (p.Pro179Ser)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641275	TTGAATTTCTTTTTTTCCTCACAGGGCTTGCCCAATCACCATTGGAGAATAACTTTTATTA
-1	471672	NM_000206.2(IL2RG):c.562C>T (p.Gln188Ter)	IL2RG	Mar 15, 2017	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006	X-linked severe combined immunodeficiency	germline	X	71110188	TTCTTGAACCACTGTTTGGAGCACTTGGTGCAGTACCGGACTGACTGGGACCACAGCTGGA
397515463	76941	NM_018127.6(ELAC2):c.1559C>T (p.Thr520Ile)	ELAC2	Aug 08, 2013	MedGen:C3809526,OMIM:615440,Orphanet:ORPHA369913	Combined oxidative phosphorylation deficiency 17	germline	17	12996647	CGTCTCTGCTACTGGACTGTGGTGAGGGCACATTTGGGCAGCTGTGCCGTCATTACGGAGA
587776984	65660	NM_001349.3(DARS):c.1459C>T (p.Arg487Cys)	DARS	Jan 04, 2016	MedGen:C3809008,OMIM:615281,Orphanet:ORPHA363412;MedGen:CN517202	Hypomyelination with brainstem and spinal cord involvement and leg spasticity;not provided	germline	2	135907363	ACTATGCTGTTTCTGGGATTGCATAATGTTCGTCAGACCTCCATGTTCCCTCGTGATCCCA
121918642	27894	NM_003126.3(SPTA1):c.82C>T (p.Arg28Cys)	SPTA1	Jan 01, 1993	MedGen:C1851741,OMIM:130600;Human Phenotype Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED CT:9434008	Elliptocytosis 2;Hereditary pyropoikilocytosis	germline	1	158685290	TTGGAAACAGCAGAAGAGATCCAGGAGAGGCGTCAGGAAGTGTTGACTCGGTATCAAAGTT
273585630	132432	NM_001127464.2(ZNF469):c.11615C>T (p.Pro3872Leu)	ZNF469	-	MedGen:C1835677,OMIM:148300	Keratoconus 1	germline	16	88439169	GACTGGGCAAGGCCTTCCCCCAGGGGAGACCCCTGCTCAGGCCCCCCAAGAGGGGCACAGC
768737101	214527	NM_003737.3(DCHS1):c.6988C>T (p.Arg2330Cys)	DCHS1	Sep 03, 2015	Gene:352956,MedGen:C1843003,OMIM:607829	Mitral valve prolapse 2	germline	11	6625356	GATCCCTTCAGTGTTGGCCGCTATGGAGGCCGTGTCTCCCTCACGGGGCCCCTGGACTTTG
-1	475692	NM_000051.3(ATM):c.1063C>T (p.Gln355Ter)	ATM	Jun 10, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108247125	TTGATTGAATTGATGGCAGATATCTGTCACCAGGTACAGTAAGTAGGTCATGTCACATTTA
-1	457669	NM_194456.1(KRIT1):c.1201C>T (p.Gln401Ter)	KRIT1	May 18, 2017	MedGen:C1861784,OMIM:116860	Cerebral cavernous malformation	germline	7	92225773	TCTCCATTAAATATTTGTGAAGAAAACAAACAAAACAACTGGGAAGAAGCTGCAAAATTGT
587779246	94788	NM_000179.2(MSH6):c.2764C>T (p.Arg922Ter)	MSH6	Jun 26, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47800747	TGGGATACAGCCTTTGACCATGAAAAGGCTCGAAAGACTGGACTTATTACTCCCAAAGCAG
63749923	95235	NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37028902	ATCATTAACCTCACTAGTGTTTTGAGTCTCCAGGAAGAAATTAATGAGCAGGGACATGAGG
28940893	18091	NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu)	ARSA	Sep 29, 2017	na;MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C0751279,Orphanet:ORPHA309271,SNOMED CT:24326000;MedGen:C0751276,Orphanet:ORPHA309263,SNOMED CT:44359008;MedGen:CN517202	Arylsulfatase a, allele a;Metachromatic leukodystrophy;Metachromatic leukodystrophy, adult type;Metachromatic leukodystrophy, juvenile type;not provided	germline;unknown	22	50625392	CCTCCAGCTCTCTGACTGCTCATGAGCCCCCGCTGCTCTATGACCTGTCCAAGGACCCTGG
370221310	440397	NM_000085.4(CLCNKB):c.1783C>T (p.Arg595Ter)	CLCNKB	Sep 14, 2016	MedGen:CN517202	not provided	germline	1	16055461	CCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGG
587783275	167732	NM_018136.4(ASPM):c.8017C>T (p.Gln2673Ter)	ASPM	Feb 08, 2013	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197101234	GCAGTGCGTACCCAAGCAGTTATTTGTATACAGTCTTATTACAGAGGCTTTAAAGTACGAA
587783461	169263	NM_004380.2(CREBBP):c.1156C>T (p.Arg386Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3793446	GAGGTTCGGGCCTGCTCGCTCCCGCATTGTCGAACCATGAAAAACGTTTTGAATCACATGA
199727342	187731	NM_001165963.1(SCN1A):c.4906C>T (p.Arg1636Ter)	SCN1A	Nov 09, 2015	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	165992369	GAAAAGTATTTCGTGTCCCCTACCCTGTTCCGAGTGATCCGTCTTGCTAGGATTGGCCGAA
111033608	20670	NM_000154.1(GALK1):c.1144C>T (p.Gln382Ter)	GALK1	Jan 01, 2000	MedGen:C0268155,OMIM:230200,Orphanet:ORPHA79237,SNOMED CT:124302001	Deficiency of galactokinase	germline	17	75758091	TACGGCGGGACTGCCACCTTCTACCTCTCTCAAGCAGCCGATGGAGCCAAGGTGCTGTGCT
1057518075	359399	NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter)	COL3A1	Oct 20, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline;paternal	2	188995061	TTTCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCCAG
61752112	22818	NM_000286.2(PEX12):c.949C>T (p.Leu317Phe)	PEX12	Jun 08, 2004	MedGen:C3551381	Peroxisomal biogenesis disorder 3b	germline	17	35575913	TGTCGTAAAACCCGGGTGAATGATACTGTTCTTGCCACCTCTGGCTATGTGTTTTGTTACC
387907154	40215	NM_001099274.1(TINF2):c.811C>T (p.Gln271Ter)	TINF2	May 01, 2012	MedGen:C3151445,OMIM:613990	Dyskeratosis congenita, autosomal dominant, 3	germline	14	24240669	GCCCCTCTAGGCCGACGAAGAGTTCAGTCCCAATGGGCCTCCACTAGGGGAGGCCATAAGG
121908176	19610	NM_031885.3(BBS2):c.175C>T (p.Gln59Ter)	BBS2	May 04, 2017	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C2936863,OMIM:615981	Bardet-Biedl syndrome;Bardet-Biedl syndrome 2	germline	16	56514623	AACCAGCATGTCAGTGCATCCAGGGTCTTCCAGAGCCCCCTGGAATCTGATGTTTCTCTTC
397514736	75263	NM_213599.2(ANO5):c.1541C>T (p.Thr514Ile)	ANO5	Jun 01, 2013	MedGen:C1833736,OMIM:166260,Orphanet:ORPHA53697	Gnathodiaphyseal dysplasia	germline	11	22259652	TCAAAAGCTTCCTTACTCCTCAGATAACCACATCACTCACAGGATCATGCTTGAACTTTAT
200483989	286483	NM_000341.3(SLC3A1):c.808C>T (p.Arg270Ter)	SLC3A1	Jun 14, 2016	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	2	44286074	GGAAACTCCAGTTGGCACTTTGACGAAGTGCGAAACCAATGTTATTTTCATCAGTTTATGA
587777553	150286	NM_004309.5(ARHGDIA):c.358C>T (p.Arg120Ter)	ARHGDIA	Mar 10, 2015	MedGen:C3808953,OMIM:615244	Nephrotic syndrome, type 8	germline	17	81869230	TGATCCTCGCTTCGGGTCCTGCAGGTTAACCGAGAGATAGTGTCCGGCATGAAGTACATCC
1064794287	447521	NM_001100.3(ACTA1):c.553C>T (p.Arg185Cys)	ACTA1	Jun 04, 2017	MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904	Nemaline myopathy 3	germline	1	229432333	CACGCCATCATGCGCCTGGACCTGGCGGGCCGCGATCTCACCGACTACCTGATGAAGATCC
77409459	22232	NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN169374	Cystic fibrosis;not specified	germline;unknown	7	117540243	TCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCAT
104894824	25485	NM_000166.5(GJB1):c.164C>T (p.Thr55Ile)	GJB1	Feb 21, 2017	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71223871	GTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTA
1060501536	397974	NM_000051.3(ATM):c.6658C>T (p.Gln2220Ter)	ATM	Jul 05, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108325395	CAGCTTCTCAAGGACAGTGATTTTAGTTTTCAGGAGCCTATCATGGCTCTACGCACAGTCA
1064794217	408712	NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter)	ACVRL1	Jul 24, 2017	MedGen:C1838163,OMIM:600376;MedGen:CN517202	Hereditary hemorrhagic telangiectasia type 2;not provided	germline	12	51919074	GAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGG
281865132	49450	NM_000530.7(MPZ):c.649C>T (p.Pro217Ser)	MPZ	Mar 26, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161305974	TGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCA
199476194	47878	NM_207352.3(CYP4V2):c.958C>T (p.Arg320Ter)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186201313	GAAGGGAACAGGCTAAGTCATGAAGATATTCGAGAAGAAGTTGACACCTTCATGTTTGAGG
1057518783	360990	NM_001009944.2(PKD1):c.5086C>T (p.Gln1696Ter)	PKD1	Jun 08, 2016	Human Phenotype Ontology:HP:0000113,MedGen:C0022680	Polycystic kidney dysplasia	unknown	16	2110081	ACCGTGCTCGAGGCCGGCACCTACCATGTGCAGCTGCGGGCCACCAACATGCTGGGCAGCG
104894642	20149	NM_000199.3(SGSH):c.383C>T (p.Pro128Leu)	SGSH	Apr 01, 2003	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006	Mucopolysaccharidosis, MPS-III-A	germline	17	80214738	CAGGCATCATCGGGAAGAAGCACGTGGGGCCGGAGACCGTGTACCCGTTTGACTTTGCGTA
121917714	28867	NM_000168.5(GLI3):c.2374C>T (p.Arg792Ter)	GLI3	Mar 29, 2017	MedGen:C0265306,OMIM:175700,SNOMED CT:32985001;MedGen:CN517202	Greig cephalopolysyndactyly syndrome;not provided	germline	7	41967653	AGGCTAAAACAAGTGAATGGAATGTTTCCGCGACTGAACCCCATTCTACCCCCTAAAGCCC
397514687	59367	NM_031850.3(AGTR1):c.481C>T (p.Arg161Ter)	AGTR1	May 02, 2013	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001	Renal dysplasia	germline	3	148741411	GTGTTTCTACTCACGTGTCTCAGCATTGATCGATACCTGGCTATTGTTCACCCAATGAAGT
886039432	259779	NM_001080517.2(SETD5):c.1333C>T (p.Arg445Ter)	SETD5	Jul 21, 2016	MedGen:CN517202	not provided	germline	3	9445193	ATTGGAGCAGAGACTAGACGTAGAAAAGCACGACGGAAAGAGCTAGAGATGGAGCAGCAGA
372392424	227472	NM_001127178.2(PIGG):c.2005C>T (p.Arg669Cys)	PIGG	Apr 29, 2016	MedGen:C4310794,OMIM:616917	Mental retardation, autosomal recessive 53	germline	4	523849	TGGCTAATACTGGCCTGCTGCCGGCTGCTGCGCTCCCTAAACCAGACAGGTGTGCAGTGGG
387907128	40134	NM_145239.2(PRRT2):c.796C>T (p.Arg266Trp)	PRRT2	Dec 01, 2011	MedGen:C1868682,OMIM:128200	Dystonia 10	germline	16	29813850	GTGGAGGGGGGTGAAGGCACCCAGAAACCTCGGGACTACATCATCCTTGCCATCCTGTCCT
374390376	39532	NM_001195794.1(CLRN1):c.92C>T (p.Pro31Leu)	CLRN1	Jul 01, 2011	MedGen:C3280041,OMIM:614180	Retinitis pigmentosa 61	germline	3	150972617	CCCTCGGAGTTGTGACAGCCTTGGGGACACCGTTGTGGATCAAAGCCACTGTCCTCTGCAA
1064796451	407132	NM_003718.4(CDK13):c.2209C>T (p.Arg737Cys)	CDK13	Feb 16, 2017	MedGen:CN517202	not provided	germline	7	40001887	ATAGGAGAAATGGTAGCCTTAAAAAAAGTACGTCTGGATAATGAAAAGGAAGGCTTTCCAA
137853123	16447	NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter)	TMPRSS6	Sep 01, 2008	Human Phenotype Ontology:HP:0001935,MedGen:C0085576,OMIM:206200,Orphanet:ORPHA209981,SNOMED CT:234349007	Microcytic anemia	germline	22	37070557	CCATGGCAGGCCAGCCTCCAGGTTCGGGGTCGACACATCTGTGGGGGGGCCCTCATCGCTG
72551349	27308	NM_000463.2(UGT1A1):c.1021C>T (p.Arg341Ter)	UGT1A1	Nov 01, 2003	MedGen:C0010324,OMIM:218800,Orphanet:ORPHA79234;MedGen:C0017551,OMIM:143500,SNOMED CT:27503000	Crigler Najjar syndrome, type 1;Gilbert's syndrome	germline	2	233767873	TCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATAC
727502766	172191	NM_005360.4(MAF):c.161C>T (p.Ser54Leu)	MAF	May 07, 2015	MedGen:C1832812,OMIM:601088,Orphanet:ORPHA477668	Ayme-gripp syndrome	germline;unknown	16	79599742	GCCAGTGCGGCCGTCTCATCGCCGGGGGCTCGCTGTCCTCCACCCCCATGAGCACGCCGTG
398123221	98474	NM_000169.2(GLA):c.748C>T (p.Gln250Ter)	GLA	Dec 28, 2012	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398838	AAGAGTATCTTGGACTGGACATCTTTTAACCAGGAGAGAATTGTTGATGTTGCTGGACCAG
121912648	27734	NM_003235.4(TG):c.886C>T (p.Arg296Ter)	TG	Apr 12, 2017	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000;MedGen:CN169287;MedGen:CN517202	Iodotyrosyl coupling defect;Thyroid dyshormonogenesis;not provided	germline	8	132882609	GCAGTTCAATCAGTCATCTCTGGCAGATTCCGATGTAAGTAATAAACTGCCAACAATGTGC
72549398	360825	NM_003742.2(ABCB11):c.3148C>T (p.Arg1050Cys)	ABCB11	Jun 18, 2015	Human Phenotype Ontology:HP:0200148,MedGen:C2750654;Human Phenotype Ontology:HP:0001406,MedGen:C0008372;Human Phenotype Ontology:HP:0000989,MedGen:C0033774	Abnormal liver function tests during pregnancy;Intrahepatic cholestasis;Pruritus	unknown	2	168932442	AGTTATGCAAAAGCTAAAATATCAGCTGCACGCTTTTTTCAACTGCTGGACCGACAACCCC
387907147	40190	NM_014639.3(TTC37):c.439C>T (p.Gln147Ter)	TTC37	Jun 01, 2010	MedGen:CN034858,OMIM:222470	Trichohepatoenteric syndrome 1	germline	5	95540794	CGAACATGGCACAAGTTGATAAAAACACGGCAGGAACAAGGTGCAGAAAATGAAGAGCTTC
587777805	17084	NM_032146.5(ARL6):c.266C>T (p.Ala89Val)	ARL6	Apr 15, 2011	MedGen:C3150808,OMIM:613575	Retinitis pigmentosa 55	germline	3	97784966	TTTTCTTTACATTACACAGAGAAGGCCAAGCTATTATTTTTGTCATTGATAGTAGTGATAG
879254871	246112	NM_000527.4(LDLR):c.1342C>T (p.Gln448Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113433	AGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCC
281865365	104899	NM_000330.3(RS1):c.637C>T (p.Arg213Trp)	RS1	Sep 29, 2017	MedGen:CN517202	not provided	germline	X	18642042	CCGCTGGGCTGGCACGTCCGCATTGCCATCCGGATGGAGCTGCTGGAGTGCGTCAGCAAGT
104894711	21353	NM_001022.3(RPS19):c.184C>T (p.Arg62Trp)	RPS19	May 30, 2017	MedGen:C2676137,OMIM:105650;MedGen:CN517202	Diamond-Blackfan anemia 1;not provided	germline	19	41869042	CCTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGG
797045094	205164	NM_000235.3(LIPA):c.253C>T (p.Gln85Ter)	LIPA	Feb 25, 2015	MedGen:C0043208,OMIM:278000,Orphanet:ORPHA275761	Lysosomal acid lipase deficiency	germline	10	89228375	TTTTCAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACT
794727405	193057	NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter)	OPA1	Oct 09, 2014	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009;MedGen:CN517202	Dominant hereditary optic atrophy;not provided	germline	3	193664952	AAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATT
876660601	235981	NM_007294.3(BRCA1):c.4162C>T (p.Gln1388Ter)	BRCA1	Sep 04, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	43090967	GTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAA
-1	446312	NM_032195.2(SON):c.6022C>T (p.Arg2008Ter)	SON	Oct 30, 2017	MedGen:CN517202	not provided	germline	21	33555253	CGGAGAAGATCAAGGTCTGTGGTAAGAAGACGAAGCTTCAGTATCTCACCAGTCAGATTAA
80338643	18852	NM_000081.3(LYST):c.148C>T (p.Arg50Ter)	LYST	Feb 16, 2012	MedGen:CN068761;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chediak-Higashi syndrome, childhood type;Chédiak-Higashi syndrome	germline	1	235830270	GCAACCCTTGGACAGTACCTTGTCCATGGTCGAGGATTTCTATTACTTACCAAGCTAAATT
527236148	152917	NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	SCN4A	Jul 31, 2014	MedGen:C2750061,OMIM:613345	Hypokalemic periodic paralysis, type 2	germline	17	63971201	TTGGGCAACATCTCAGCCCTGAGGACCTTCCGGGTGCTGCGGGCCCTCAAAACCATCACGG
1135401925	424772	NM_000059.3(BRCA2):c.8245C>T (p.Gln2749Ter)	BRCA2	Jan 31, 2014	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	13	32363447	GTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGG
886043986	272948	NM_003742.2(ABCB11):c.22C>T (p.Arg8Ter)	ABCB11	Jun 09, 2016	MedGen:C2608083,OMIM:605479,Orphanet:ORPHA99961;MedGen:C1866138,OMIM:601847	Benign recurrent intrahepatic cholestasis 2;Progressive familial intrahepatic cholestasis 2	germline	2	169018104	GCAATTACCATGTCTGACTCAGTAATTCTTCGAAGTATAAAGAAATTTGGAGAGGAGAATG
-1	487591	NM_000138.4(FBN1):c.2860C>T (p.Arg954Cys)	FBN1	Dec 28, 2016	MedGen:CN229799	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	germline	15	48490073	AACCTCCCTTGATTCCCTCTGACAGATATCCGCCTGGAAACCTGCTTCCTGAGGTACGAGG
752492870	268739	NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)	SGCB	Jun 14, 2016	MedGen:CN239352;MedGen:C1858593,OMIM:604286,Orphanet:ORPHA119	Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2E	germline	4	52038229	ATGGCGGCAGCGGCGGCGGCGGCTGCAGAACAGGTCTGTGAGTACCGCCGCGGCCGCGGGC
797044787	195889	NM_000425.4(L1CAM):c.924C>T (p.Gly308=)	L1CAM	Feb 10, 2015	MedGen:C0265216,OMIM:307000,Orphanet:ORPHA2182,SNOMED CT:71779008	X-linked hydrocephalus syndrome	germline	X	153870123	GCTGCTGAAAGTGGGCGAGGAGGATGATGGCGAGTACCGCTGCCTGGCCGAGAACTCACTG
398122886	45767	NM_005543.3(INSL3):c.217C>T (p.Arg73Ter)	INSL3	Nov 01, 2000	Human Phenotype Ontology:HP:0000028,MedGen:C0010417,OMIM:219050	Cryptorchidism, unilateral or bilateral	germline	19	17817033	CCAGGTGAGTTGCTACAGTGGCTGGAGAGACGACATCTGCTCCATGGGCTGGTGGCCGACA
606231438	170979	NM_152296.4(ATP1A3):c.2411C>T (p.Thr804Ile)	ATP1A3	May 04, 2014	MedGen:C3553788,OMIM:614820	Alternating hemiplegia of childhood 2	de novo	19	41970395	CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTGGCAGCCACCCTTG
866521873	240926	NM_000051.3(ATM):c.1240C>T (p.Gln414Ter)	ATM	Jan 03, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108250705	AAATTATCCTTTTTTTTTTTTTTTAGGCTACAGATTGCAACCCAATTAATATCAAAGTATC
121908486	20828	NM_014270.4(SLC7A9):c.782C>T (p.Pro261Leu)	SLC7A9	Apr 01, 2003	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	19	32859932	ACCTGCCTTTGGCCATTATCATCGGGATCCCCCTGGTGACGGCGTGCTACATCCTCATGAA
80356873	70287	NM_007294.3(BRCA1):c.5536C>T (p.Gln1846Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline;unknown	17	43045734	GAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATAC
199474660	24631	m.3303C>T	MT-TL1	Aug 01, 1999	MedGen:CN069301	Cardiomyopathy with or without skeletal myopathy	germline	MT	3303	TACAGTCAGAGGTTCAATTCCTCTTCTTAACAACATACCCATGGCCAACCTCCTACTCCTC
1033229812	482217	NM_032195.2(SON):c.5767C>T (p.Arg1923Ter)	SON	Dec 07, 2017	MedGen:CN517202	not provided	germline	21	33554998	GATAACCGAAAGACAGTTAGAGCTCGAAGTCGAACCCCAAGTCGTCGGAGTCGGAGTCATA
143473232	214145	NM_002109.5(HARS):c.395C>T (p.Thr132Ile)	HARS	Aug 01, 2015	MedGen:C4225265,OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2w	germline	5	140679789	GGGAGCTCCTGTCCCTTCGCTATGACCTCACTGTATCTTTCTAAACTTGGGCTCTTGAGAC
759518184	481579	NM_000228.2(LAMB3):c.430C>T (p.Arg144Ter)	LAMB3	May 08, 2017	MedGen:CN517202	not provided	germline	1	209634581	GAGCGCTCCTCAGACTTCGGTAAGACCTGGCGAGTGTACCAGTACCTGGCTGCCGACTGCA
886039782	260472	NM_001142298.1(SQSTM1):c.34C>T (p.Arg12Ter)	SQSTM1	Oct 10, 2016	MedGen:C4310693,OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	germline	5	179823038	GCCATGTCCTACGTGAAGGATGACATCTTCCGAATCTACATTAAAGGTAAGGGGCTGCTCT
104894429	21033	NM_014252.3(SLC25A15):c.535C>T (p.Arg179Ter)	SLC25A15	May 31, 2012	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	germline	13	40807376	TTCTACCATGGACTCTCAAGCACTTTACTTCGAGAAGTACCAGGCTATTTCTTCTTCTTCG
886037979	249163	NM_007294.3(BRCA1):c.784C>T (p.Gln262Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43094747	CGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGG
749922789	432464	NM_018116.3(MSTO1):c.1033C>T (p.Arg345Cys)	MSTO1	Sep 22, 2017	MedGen:CN484737,OMIM:617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	germline	1	155612910	ACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTC
797045706	208405	NM_017777.3(MKS1):c.844C>T (p.Arg282Ter)	MKS1	May 14, 2014	MedGen:C3714506,OMIM:249000	Meckel syndrome type 1	germline	17	58212996	GCACAGCCGGAGGAGGAGGAGCGGGAACGGCGAGTGTTCAAGGATGTAAGCGCAAGTTCAT
886039406	260292	NM_000425.4(L1CAM):c.523+12C>T	L1CAM	Apr 24, 2017	MedGen:CN517202	not provided	germline	X	153871045	ATCTACTGGATGAACAGCAGTGGGTGCCGGCGAGCGGCTGCCTCGTGGGGTCGGGGTGTTA
755226061	440858	NM_000297.3(PKD2):c.2614C>T (p.Arg872Ter)	PKD2	Nov 15, 2016	MedGen:CN517202	not provided	germline	4	88074903	GCCGTGATCGTGAAGCTAGAGATTATGGAGCGAGCCAAACTGAAGAGGAGGGAGGTGCTGG
60682848	57238	NM_005572.3(LMNA):c.673C>T (p.Arg225Ter)	LMNA	Jul 25, 2017	MedGen:CN043576;MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Dilated cardiomyopathy 1A;Limb-girdle muscular dystrophy, type 1B;Primary dilated cardiomyopathy;not provided	germline	1	156134838	CTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC
386833517	70675	NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter)	GLDC	Mar 31, 2017	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006;MedGen:CN517202	Non-ketotic hyperglycinemia;not provided	germline	9	6604637	GGGGGACCCCATGCAGCATTTTTTGCTGTCCGAGAAAGCTTGGTGAGAATGATGCCTGGAA
63751442	94735	NM_000179.2(MSH6):c.2191C>T (p.Gln731Ter)	MSH6	Apr 07, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47800174	AGATCTGGTGCTATCTTCACCAAAGCCTATCAACGAATGGTGCTAGATGCAGTGACATTAA
180177100	133574	NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter)	PALB2	Jul 31, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C1835817,OMIM:610832;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:C3150547,OMIM:613348;MedGen:C1861028,OMIM:189960;MedGen:CN517202	Familial cancer of breast;Familial cancer of breast;Fanconi anemia, complementation group N;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;Tracheoesophageal fistula;not provided	germline;unknown	16	23635306	TTTCCTGCAGAATATTATGTTAGAACAACACGAAGCATGTCCAATTGCCAGAGGAAAGTAG
398123953	100523	NM_004006.2(DMD):c.4375C>T (p.Arg1459Ter)	DMD	Jun 17, 2014	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32389644	AAAAAATTACAAGATGTCTCCATGAAGTTTCGATTATTCCAGAAACCAGCCAATTTTGAGC
879254880	246127	NM_000527.4(LDLR):c.1363C>T (p.Gln455Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113539	GATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCT
367570129	181166	NM_144988.3(ALG14):c.310C>T (p.Arg104Ter)	ALG14	Apr 27, 2015	MedGen:C4015596,OMIM:616227	Myasthenic syndrome, congenital, 15	germline	1	95027239	TCCTTCTAGTATACCAAATACTACATTCACCGAATTCCAAGAAGCCGGGAGGTTCAGCAGT
1057518745	359111	NM_014339.6(IL17RA):c.196C>T (p.Arg66Ter)	IL17RA	Dec 19, 2016	MedGen:C3151402,OMIM:613953	Immunodeficiency 51	germline	22	17097829	ACCTGCCTGGATGACAGCTGGATTCACCCTCGAAACCTGACCCCCTCCTCCCCAAAGGACC
28933972	28813	NM_006194.3(PAX9):c.76C>T (p.Arg26Trp)	PAX9	Aug 01, 2009	MedGen:C1970291,OMIM:604625	Tooth agenesis, selective, 3	germline	14	36662968	GTGAACGGGAGGCCGCTGCCCAACGCCATCCGGCTTCGCATCGTGGAACTGGCCCAACTGG
587784534	169100	NM_130838.1(UBE3A):c.964C>T (p.Gln322Ter)	UBE3A	Feb 08, 2013	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25371150	CAGATTCGGAGAATGATGGAGACATTTCAGCAACTTATTACTTATAAAGTCATAAGCAATG
530109812	424251	NM_148897.2(SDR9C7):c.214C>T (p.Arg72Trp)	SDR9C7	Jul 14, 2017	MedGen:CN321864,OMIM:617574	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13	germline	12	56934048	TCCCAGAAACTTCAGCGGGATACCTCCTATCGGCTGCAGACCACCCTACTGGATGTCACCA
863225092	214087	NM_001001523.1(RORC):c.1258C>T (p.Gln420Ter)	RORC	Aug 07, 2015	MedGen:C4225266,OMIM:616622,Orphanet:ORPHA477857	Immunodeficiency 42	germline	1	151811399	CCAGGGCTCCAAGAGAAAAGGAAAGTAGAACAGCTGCAGTACAATCTGGAGCTGGCCTTTC
202126574	17100	NM_152443.2(RDH12):c.377C>T (p.Ala126Val)	RDH12	Feb 15, 2009	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3150208	Retinitis pigmentosa;Retinitis pigmentosa 53	germline	14	67726084	AAAAGCAGCTCCATATTCTGATCAACAATGCGGGAGTAATGATGTGTCCATATTCCAAGAC
80356625	23707	NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys)	KCNJ11	Feb 08, 2013	Human Phenotype Ontology:HP:0000819,MedGen:C0011849,SNOMED CT:73211009;MedGen:C1833102;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Diabetes mellitus;Diabetes mellitus, permanent neonatal, with neurologic features;Permanent neonatal diabetes mellitus	germline	11	17387491	CTGCGCCACGGCCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGAGCATGATCA
111033818	36659	NM_000155.3(GALT):c.1057C>T (p.Gln353Ter)	GALT	Jan 25, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	unknown	9	34649562	GCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTC
587784062	168326	NM_133433.3(NIPBL):c.892C>T (p.Gln298Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36975799	TTTCTAGGCTCAAGACCACCTTTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTC
121908282	16271	NM_152419.2(HGSNAT):c.848C>T (p.Pro283Leu)	HGSNAT	Sep 26, 2017	MedGen:C0086649,OMIM:252930,Orphanet:ORPHA79271,SNOMED CT:75238000;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-C;Retinal dystrophy;not provided	germline;unknown	8	43173740	CAGGGCTGACAGTGGCTGACCTCGTGTTCCCGTGGTGAGTTGCCGGTCTGCCCTCTTCTCT
121908146	19409	NM_001243133.1(NLRP3):c.1316C>T (p.Ala439Val)	NLRP3	Jul 24, 2017	MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000;MedGen:CN517202	Familial cold urticaria;not provided	germline	1	247424765	GCCTTGCCCAGACATCCAAGACCACCACCGCGGTGTACGTCTTCTTCCTTTCCAGTTTGCT
1131692171	424188	NM_015909.3(NBAS):c.586C>T (p.Gln196Ter)	NBAS	Jul 11, 2017	MedGen:C3541319,OMIM:614800,Orphanet:ORPHA391677	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	unknown	2	15536479	TTGATATTTTTAGAATATAAAGCAAGTGCACAGTGGTCTGCAGAACTCCTGGTCATCAATT
137852416	25261	NM_000132.3(F8):c.1636C>T (p.Arg546Trp)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154957073	GTAGAAGATGGGCCAACTAAATCAGATCCTCGGTGCCTGACCCGCTATTACTCTAGTTTCG
119471022	19167	NM_022081.5(HPS4):c.541C>T (p.Gln181Ter)	HPS4	Oct 11, 2012	MedGen:C3484357,OMIM:614073	Hermansky-Pudlak syndrome 4	germline	22	26470774	CTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCG
137853039	21921	NM_001429.3(EP300):c.1942C>T (p.Arg648Ter)	EP300	Apr 01, 2005	MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284	Rubinstein-Taybi syndrome 2	germline	22	41141111	TATAAGATCCAGAAAGAACTAGAAGAAAAACGAAGGACCAGACTACAGAAGCAGAACATGC
864309687	213991	NM_021954.3(GJA3):c.260C>T (p.Thr87Met)	GJA3	Jan 09, 2015	Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Congenital cataract	inherited	13	20143029	TCTGGGCGCTGCAGATCATCTTCGTGTCCACGCCCACCCTCATCTACCTGGGCCACGTGCT
-1	427067	NM_001171.5(ABCC6):c.595C>T (p.Gln199Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16214329	CAACCCCCCTTCTTCCCTGAAGACCCCCAGCAGTCTGTAAGTCACCAAGTTCCAACCTCAT
121918316	21432	NM_006772.2(SYNGAP1):c.1735C>T (p.Arg579Ter)	SYNGAP1	Aug 02, 2016	MedGen:C2675473,OMIM:612621;MedGen:CN517202	Mental retardation, autosomal dominant 5;not provided	germline	6	33440787	TTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTA
587783361	167917	NM_003688.3(CASK):c.2074C>T (p.Gln692Ter)	CASK	Feb 08, 2013	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline	X	41542772	GTAGCTTGCATTGCCATGGAGAAGACCAAACAGGAGCAGCAGGCCAGCTGTACTTGGTTTG
397518472	94311	NM_000833.4(GRIN2A):c.2041C>T (p.Arg681Ter)	GRIN2A	Dec 23, 2015	MedGen:C1832814,OMIM:245570;MedGen:CN517202	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided	germline	16	9822391	CAGAGACCTCATGACTATTCCCCACCTTTTCGATTTGGGACAGTGCCTAATGGAAGCACGG
745854387	213899	NM_001203.2(BMPR1B):c.91C>T (p.Arg31Cys)	BMPR1B	Jun 24, 2015	MedGen:C4225404,OMIM:609441	Acromesomelic dysplasia, Demirhan type	germline	4	95104515	ACAGCCCCCACCCCCCGTCCAAAGGTCTTGCGTTGTAAATGCCACCACCATTGTCCAGAAG
727505396	178394	NM_001083962.1(TCF4):c.1438C>T (p.Gln480Ter)	TCF4	May 17, 2016	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896	Pitt-Hopkins syndrome	de novo;germline	18	55234596	AACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCAC
146559223	247515	NM_003504.4(CDC45):c.893C>T (p.Ala298Val)	CDC45	Oct 20, 2016	MedGen:C4310738,OMIM:617063	Meier-gorlin syndrome 7	germline	22	19507454	ACAGCCTGTGCAACACCAGCTATACCGCAGCCAGGTTCAAGCTGTGGTCTGTGCATGGACA
119485090	20072	NM_022041.3(GAN):c.601C>T (p.Arg201Ter)	GAN	Apr 23, 2002	MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:128207002	Giant axonal neuropathy	germline	16	81354723	AATGAAAGATATGTCTTTGAAGCAGTAATTCGATGGATAGCACATGATACAGAAATAAGAA
201348482	39369	NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter)	BLOC1S6	Jun 13, 2017	MedGen:C3280026,OMIM:614171,Orphanet:ORPHA280663	Hermansky-Pudlak syndrome 9	germline	15	45603107	TTGGCTGTGTGTTTTTGTTTCAGACAGAACCAAGTTGTATTGTTAGACACACTGGAACAAG
281864982	47643	NM_024312.4(GNPTAB):c.1759C>T (p.Arg587Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101765158	GAAGGTGCCTATAGTGACAATCCAATAATTCGACATGCTTCTATTGCCAACAAGTGGAAAA
121908906	21416	NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter)	AP3B1	Oct 11, 2012	MedGen:C1842362,OMIM:608233,Orphanet:ORPHA183678	Hermansky Pudlak syndrome 2	germline	5	78141268	ATTCTTTGGCTAATTGGAGAAAACTGTGAACGAGTTCCTAAAATTGCCCCTGATGTTTTGA
794728873	196906	NM_198056.2(SCN5A):c.3553C>T (p.Gln1185Ter)	SCN5A	Apr 19, 2012	MedGen:CN517202	not provided	germline	3	38575410	CGCTGTCCCTGCTGTGCGGTGGACACCACACAGGCCCCAGGGAAGGTCTGGTGGCGGTTGC
72558426	103174	NM_000531.5(OTC):c.659C>T (p.Pro220Leu)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403736	AATTCGGAATGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAACTTTTTGCCTTGAAACT
886041126	264224	NM_004722.3(AP4M1):c.1321C>T (p.Arg441Ter)	AP4M1	Sep 13, 2017	MedGen:CN517202	not provided	germline	7	100106841	TGCGGCAATGCCAACCCCCACAAGTGGGTGCGACACCTAAGCCACAGCGACGCCTATGTCA
80358262	34307	NM_006432.3(NPC2):c.133C>T (p.Gln45Ter)	NPC2	Jul 22, 2008	MedGen:C1843366,OMIM:607625	Niemann-Pick disease type C2	not provided	14	74486386	AAGGAAGTGAATGTGAGCCCATGCCCCACCCAACCCTGCCAGCTGAGCAAAGGACAGTCTT
199472888	78057	NM_000238.3(KCNH2):c.1001C>T (p.Pro334Leu)	KCNH2	Jul 15, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150957418	TCGTGCGCTACCGCACCATTAGCAAGATTCCCCAAATCACCCTCAACTTTGTGGACCTCAA
104894797	26321	NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter)	DMD	Nov 08, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline;maternal	X	31206663	TTTTCTGCTTTGATTCTTCATAATAGGGGACGAACAGGGAGGATCCGTGTCCTGTCTTTTA
121908354	19967	NM_022124.5(CDH23):c.719C>T (p.Pro240Leu)	CDH23	Jul 01, 2017	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71570884	AGGACATGGACCCCATCTTCATCAACCTGCCTTACAGCACCAACATCTACGAGCATTCTCC
1064793721	407387	NM_006766.4(KAT6A):c.931C>T (p.Arg311Ter)	KAT6A	Jun 08, 2015	MedGen:CN517202	not provided	germline	8	41978754	TTTATAGGCATGTGGATATGTCAAATATGTCGACCTAGGAAAAAAGGACGAAAACTTCTAC
796053089	201628	NM_001165963.1(SCN1A):c.314C>T (p.Thr105Ile)	SCN1A	Jan 07, 2015	MedGen:CN517202	not provided	germline	2	166058639	AAGGGAAGGCCATCTTCCGGTTCAGTGCCACCTCTGCCCTGTACATTTTAACTCCCTTCAA
28941768	19056	NM_006657.2(FTCD):c.403C>T (p.Arg135Cys)	FTCD	Jul 01, 2003	MedGen:C0268609,OMIM:229100,Orphanet:ORPHA51208,SNOMED CT:59761008	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	germline	21	46151945	CTGTACGGCGAGGCAGCCAGGATGGACAGTCGCCGGACCCTGCCGGCCATCCGGGCCGGGG
137852795	15446	NM_001165974.1(UROC1):c.1528C>T (p.Arg510Cys)	UROC1	Jun 01, 2009	Human Phenotype Ontology:HP:0012237,MedGen:C0268514,OMIM:276880,Orphanet:ORPHA210128,SNOMED CT:60952007	Urocanate hydratase deficiency	germline	3	126498141	GACATATTCTCCCAGGGATTTGGGCCTTTCCGCTGGGTGTGCACATCGGGGGACCCCCAGG
377767361	36192	NM_005359.5(SMAD4):c.1342C>T (p.Gln448Ter)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51076671	TTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAG
199473527	78217	NM_000238.3(KCNH2):c.1894C>T (p.Pro632Ser)	KCNH2	Jul 23, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150951499	CTCACCAGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGAAGATCTTCTCCA
1060500717	404472	NM_001456.3(FLNA):c.6700C>T (p.Arg2234Ter)	FLNA	Jun 25, 2016	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154352226	CCCCTAGGGGAAGGGGGAGCCCACAAGGTCCGAGCTGGGGGCCCTGGCCTGGAGAGAGCTG
143600903	359150	NM_153461.3(IL17RC):c.1132C>T (p.Arg378Ter)	IL17RC	Jul 06, 2015	MedGen:C4225324,OMIM:616445	Candidiasis, familial, 9	germline	3	9928346	CACCAGAACCTCTGGCAAGCCGCCCGACTGCAACTGCTGACCCTGCAGAGCTGGCTGCTGG
1057524191	377427	NM_001199107.1(TBC1D24):c.121C>T (p.Gln41Ter)	TBC1D24	Dec 21, 2016	MedGen:CN517202	not provided	germline	16	2496269	GAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGC
139643362	213894	NM_000166.5(GJB1):c.490C>T (p.Arg164Trp)	GJB1	Jul 29, 2016	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71224197	TATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCC
72547562	186957	NM_000382.2(ALDH3A2):c.551C>T (p.Thr184Met)	ALDH3A2	Apr 15, 2015	MedGen:C0037231,OMIM:270200,Orphanet:ORPHA816,SNOMED CT:111303009;MedGen:CN517202	Sjögren-Larsson syndrome;not provided	germline;unknown	17	19656445	TGAAGCAGCGATTTGACCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCAT
137853160	23303	NM_000445.4(PLEC):c.913C>T (p.Gln305Ter)	PLEC	Feb 01, 2005	MedGen:C2677349,OMIM:612138,Orphanet:ORPHA158684	Epidermolysis bullosa simplex with pyloric atresia	germline	8	143934923	ACAGCCGCCCGTGCCTGCCCGCAGGAGCTGCAGCTGCGCTGGCAGGAGTACCGGGAGCTGG
993687029	424942	NM_017613.3(DONSON):c.1282C>T (p.Gln428Ter)	DONSON	Aug 05, 2017	MedGen:CN373593,OMIM:617604	MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES	germline	21	33581370	TCTAAGAGTTTAGTTGCTACCTCAGGTCCACAGGCAGGACTTCCTCCAACCCTCTTGTCCC
-1	449085	NM_021007.2(SCN2A):c.1342C>T (p.Gln448Ter)	SCN2A	Jun 03, 2017	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927;MedGen:C3150987,OMIM:613721	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	germline	2	165314067	GAGGCTGAACAGAAGGAAGCTGAATTTCAGCAGATGCTCGAACAGTTGAAAAAGCAACAAG
797045019	205042	NM_001081550.1(THOC2):c.937C>T (p.Leu313Phe)	THOC2	Aug 06, 2015	MedGen:C0796218,OMIM:300957,Orphanet:ORPHA457240	Mental retardation, X-linked 12	germline	X	123668239	ATTGCGGAAGCTAAGCAAATTGTTAGAAAGCTTACGATGGTTGTGTTGTCTTCTGAAAAAA
28931605	31981	NM_006891.3(CRYGD):c.70C>T (p.Pro24Ser)	CRYGD	Sep 01, 2007	Human Phenotype Ontology:HP:0010926,MedGen:C1861832,OMIM:115700	Cataract 4	germline	2	208124294	GGCCGCCACTATGAATGCAGCAGCGACCACCCCAACCTGCAGCCCTACTTGAGCCGCTGCA
-1	433220	NM_000296.3(PKD1):c.2152C>T (p.Gln718Ter)	PKD1	Mar 25, 2017	MedGen:CN169374	not specified	germline	16	2114871	CTCATGCTCCCTGGTGACCTCGTTGGCTTGCAGCACGACGCTGGCCCTGGCGCCCTCCTGC
104894206	22328	NM_001814.5(CTSC):c.628C>T (p.Arg210Ter)	CTSC	Dec 01, 1999	MedGen:C0030360,OMIM:245000,Orphanet:ORPHA678,SNOMED CT:40158001	Papillon-Lefèvre syndrome	germline	11	88309176	GATATGATTAGGAGAAGTGGTGGCCACAGTCGAAAAATCCCAAGGTAATCAAGCACACATT
104894246	24196	NM_153767.3(KCNJ1):c.584C>T (p.Ala195Val)	KCNJ1	Jun 01, 1998	MedGen:C1855849,OMIM:241200	Bartter syndrome, type 2, antenatal	germline	11	128839660	GAGGGAAGCTTTGCCTCCTAATCCGAGTGGCTAATCTCAGGAAGAGCCTTCTTATTGGCAG
515726212	136384	NM_000119.2(EPB42):c.949C>T (p.Arg317Cys)	EPB42	Mar 13, 2014	MedGen:C2675192,OMIM:612690	Spherocytosis type 5	germline	15	43208749	ACAGTGCTGCGATGCCTGGGAATCCCTGCCCGCGTGGTGACCACGTTTGCCTCAGCACAGG
727502820	172194	NM_172362.2(KCNH1):c.1546C>T (p.Leu516Phe)	KCNH1	Mar 09, 2015	MedGen:C2678486,OMIM:611816,Orphanet:ORPHA420561	Temple-Baraitser syndrome	germline	1	210804083	TATGCCAACACCAACAGATACCATGAGATGCTCAACAGTGTTCGGGACTTCCTGAAGCTCT
1057519281	361778	NM_014727.2(KMT2B):c.2428C>T (p.Gln810Ter)	KMT2B	Jan 12, 2017	MedGen:C4310633,OMIM:617284	Dystonia 28, childhood-onset	germline	19	35721775	AAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGG
80358245	19753	NM_015166.3(MLC1):c.278C>T (p.Ser93Leu)	MLC1	Oct 14, 2015	MedGen:C1858854,OMIM:604004,Orphanet:ORPHA2478	Megalencephalic leukoencephalopathy with subcortical cysts 1	germline;unknown	22	50080387	GGATTCCGGTTTCATTCCAGTGCATCCCCTCGGCAATTGTGAGCTTCACCGTCTCCAGGAG
121909674	31248	NM_198903.2(GABRG2):c.1312C>T (p.Gln438Ter)	GABRG2	Mar 01, 2006	MedGen:C1858674	Generalized epilepsy with febrile seizures plus 3	germline	5	162153132	ATTGATATCCGCCCAAGATCAGCAACCATTCAAATGAATAATGCTACACACCTTCAAGAGA
61297109	77195	NM_000424.3(KRT5):c.991C>T (p.Arg331Cys)	KRT5	Apr 09, 2016	MedGen:C0080333,OMIM:131800,Orphanet:ORPHA79400;MedGen:CN517202	Epidermolysis bullosa simplex, Cockayne-Touraine type;not provided	germline	12	52517691	ACCTCAGTGGTCCTCTCCATGGACAACAACCGCAACCTGGACCTGGATAGCATCATCGCTG
57499803	426821	NM_001171.5(ABCC6):c.3978C>T (p.Asp1326=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154936	GGAGGCAGCTGAGGGTGGGATCTGGATCGACGGGGTCCCCATTGCCCACGTGGGGCTGCAC
886037874	247767	NM_013417.3(IARS):c.1310C>T (p.Pro437Leu)	IARS	Aug 31, 2016	MedGen:C4310720,OMIM:617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	germline	9	92268295	TGGTTATGTGATCTGTTTATTGCAGGGTCCCAGAGTTGGTACGAGAAAAACGATTTGGAAA
28936702	22730	NM_003865.2(HESX1):c.478C>T (p.Arg160Cys)	HESX1	Jun 01, 1998	Human Phenotype Ontology:HP:0100842,MedGen:C0338503,OMIM:182230,Orphanet:ORPHA3157,SNOMED CT:7611002	Septo-optic dysplasia sequence	germline	3	57198277	CCTTAACTTTAGATTTGGTTTCAAAATCGGCGTGCAAAACTGAAAAGGTCCCATAGAGAAT
869320682	205358	NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu)	CUL4B	Jan 01, 2015	Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293	Syndromic X-linked mental retardation, Cabezas type	germline	X	120560544	CTGCCACTGATGGTAATACCAGCACCACTCCGCCCACCTCTGCCAAGAAGAGAAAGTTAAA
-1	463113	NM_003482.3(KMT2D):c.11755C>T (p.Gln3919Ter)	KMT2D	Jul 09, 2016	MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:313426007	Kabuki syndrome	germline	12	49032950	CAACAGCAACTTCAGCAGCAGCAGCAGCAGCAGCTACAACAGCAACAGCAACTTCAGCAGC
137852758	23832	NM_198129.2(LAMA3):c.8962C>T (p.Gln2988Ter)	LAMA3	Jan 01, 2002	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	germline	18	23939322	CCCAAGACCCAGGCCAATCATGGAGCCCTCCAGTTTGGGGACATTCCCACCAGCCACTTGC
724160006	172136	NM_001134418.1(P3H2):c.13C>T (p.Gln5Ter)	P3H2	Dec 01, 2014	MedGen:C3280346,OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	germline	3	189995367	GTGGCTAACCCTGAGCACATGGAAATGCAGCAGAACATTGAGAATTACAGGGCGACAGCTG
80357223	69350	NM_007294.3(BRCA1):c.2800C>T (p.Gln934Ter)	BRCA1	Jan 05, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43092731	AATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAAT
267607490	77299	NM_001927.3(DES):c.1360C>T (p.Arg454Trp)	DES	Jul 27, 2017	MedGen:C1858154,OMIM:604765;MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Dilated cardiomyopathy 1I;Myofibrillar myopathy 1;Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline;inherited	2	219425734	AAGACGGTGATGATCAAGACCATCGAGACACGGGATGGGGAGGTAAGTGGTCTGTCTGGGC
750385844	248911	NM_000059.3(BRCA2):c.523C>T (p.Gln175Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32326505	ATAAACTATTTTCTTTCCTCCCAGGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAG
727503512	228285	NM_001001430.2(TNNT2):c.517C>T (p.Arg173Trp)	TNNT2	Jun 27, 2017	MedGen:C1832243,OMIM:601494;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Left ventricular noncompaction 6;Primary dilated cardiomyopathy;not provided	germline	1	201363349	GAGAACAGGAGGAAGGCTGAGGATGAGGCCCGGAAGAAGAAGGCTTTGTCCAACATGATGC
773148506	213674	NM_002017.4(FLI1):c.970C>T (p.Arg324Trp)	FLI1	Apr 25, 2017	MedGen:CN233138;MedGen:CN242283,OMIM:617443	Bleeding disorder platelet type macrothrombocytopenia;Bleeding disorder, platelet-type, 21	germline;inherited	11	128810599	CCCGATGAGGTGGCCAGGCGCTGGGGCGAGCGGAAAAGCAAGCCCAACATGAATTACGACA
121908321	19635	NM_020041.2(SLC2A9):c.1138C>T (p.Arg380Trp)	SLC2A9	Aug 25, 2014	MedGen:C2677549,OMIM:612076	Renal hypouricemia 2	germline	4	9890687	GACTAGGGTTTGGTCATTGAGCACCTGGGACGGAGACCCCTCCTCATTGGTGGCTTTGGGC
60399023	29651	NM_000526.4(KRT14):c.373C>T (p.Arg125Cys)	KRT14	Mar 30, 2017	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	17	41586462	GAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTG
2856585	426912	NM_001171.5(ABCC6):c.2835C>T (p.Pro945=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16169806	CCTGGCCTACCTGCGTGCCGTGGGCACCCCCCTCTGCCTCTACGCACTCTTCCTCTTCCTC
111033568	26922	NM_002769.4(PRSS1):c.364C>T (p.Arg122Cys)	PRSS1	Mar 29, 2017	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN169374	Hereditary pancreatitis;not specified	germline	7	142751937	AAGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCC
587784350	169766	NM_003560.3(PLA2G6):c.2233C>T (p.Arg745Trp)	PLA2G6	Feb 08, 2013	Human Phenotype Ontology:HP:0012675,MedGen:C4021076	Iron accumulation in brain	germline	22	38112547	TGCACGGATCCAGACGGGCGGGCTGTGGACCGGGCACGGGCCTGGTGCGAGATGGTCGGCA
121965014	15286	NM_000398.6(CYB5R3):c.229C>T (p.Gln77Ter)	CYB5R3	Jan 01, 2000	MedGen:C2749560	Methemoglobinemia type 2	germline	22	42630986	CCCAGAGTGACCCCGTTCTGTCCTGCAGGCCAGCACATCTACCTCTCGGCTCGAATTGATG
761957186	485691	NM_006996.2(SLC19A2):c.428C>T (p.Ser143Phe)	SLC19A2	Sep 03, 2013	MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED CT:237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	germline	1	169477534	TCGCCACAGCCACTGAAATTGCCTATTACTCTTATATCTACAGTGTGGTGGACCTGGGCAT
121434294	18557	NM_005957.4(MTHFR):c.547C>T (p.Arg183Ter)	MTHFR	Jun 01, 1994	MedGen:CN068661	Homocystinuria due to MTHFR deficiency	germline	1	11800251	AACTACGCAGTGGACCTGGTGAAGCACATCCGAAGTGAGTTTGGTGACTACTTTGACATCT
368007918	264139	NM_000094.3(COL7A1):c.1573C>T (p.Arg525Ter)	COL7A1	Aug 05, 2016	MedGen:CN517202	not provided	germline	3	48591527	CAAGCCACCGAGCTGCCCGGGCAGCGGGTGCGAGTGTCCTGGAGCCCAGTCCCTGGTGCCA
755553133	216925	NM_001286209.1(GAS8):c.925C>T (p.Arg309Ter)	GAS8	Oct 01, 2015	MedGen:C4225230,OMIM:616726	Ciliary dyskinesia, primary, 33	germline	16	90037837	CTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGG
118192118	76900	NM_000540.2(RYR1):c.1280C>T (p.Ser427Leu)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38452854	TGGACAGCTTCAGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCAT
879255606	245209	NM_015340.3(LARS2):c.1289C>T (p.Ala430Val)	LARS2	Jul 21, 2016	MedGen:C4310761,OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	germline	3	45491566	AGGATGCTTTTCTAGCCCTGACTCAGAAAGCCCGGGGGAAGAGAGTGGGTGGAGACGTGAC
1049618423	482259	NM_000084.4(CLCN5):c.82C>T (p.Arg28Ter)	CLCN5	Oct 12, 2017	MedGen:CN517202	not provided	germline	X	50070007	AATACAATTGATTGGGTGAGAGAGAAGTCTCGAGACCGGGATAGGCACCGAGAGGTAAGAC
869320658	227111	NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp)	IL2RG	Apr 14, 2016	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006;MedGen:CN517202	X-linked severe combined immunodeficiency;not provided	germline	X	71109315	GATGGGCAGAAACGCTACACGTTTCGTGTTCGGAGCCGCTTTAACCCACTCTGTGGAAGTG
587777132	106525	NM_020919.3(ALS2):c.2761C>T (p.Arg921Ter)	ALS2	Feb 21, 2014	MedGen:C1846588,OMIM:607225;MedGen:CN517202	Infantile-onset ascending hereditary spastic paralysis;not provided	germline	2	201728592	GAGCGTCGACTGCTGTGTGAGAGTAGTAACCGAGCCCTGTCTCTGCAGCATGCTGGGAGGT
154774635	39558	NM_017882.2(CLN6):c.139C>T (p.Leu47Phe)	CLN6	May 13, 2011	MedGen:C0022797,OMIM:204300,SNOMED CT:62009002;MedGen:CN517202	Adult neuronal ceroid lipofuscinosis;not provided	germline	15	68218595	GCTGCCCGCACGGCTCCCTTCCACCTCGACCTCTGGTTCTACTTCACACTGCAGAACTGGG
-1	428569	NM_020732.3(ARID1B):c.3430C>T (p.Gln1144Ter)	ARID1B	Nov 16, 2015	MedGen:C3281201,OMIM:614562	Mental retardation, autosomal dominant 12	germline	6	157184315	TCAAGCAGTGCAGCGAGCTCCCTGAAAAAGCAGTATATTCAGTACCTGTTTGCCTTTGAGT
886041983	264013	NM_031844.2(HNRNPU):c.520C>T (p.Gln174Ter)	HNRNPU	Sep 09, 2016	MedGen:CN517202	not provided	germline	1	244863788	CAACCGCCGGCGACGCAGCAGCAACAGCCCCAACAGCAGCGCGGGGCCGCCAAGGAGGCCG
587783446	168618	NM_017780.3(CHD7):c.5458C>T (p.Arg1820Ter)	CHD7	Oct 31, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60850546	CGAGCTGACCCCGCGCTGTGCTTTCTGGAACGAGTCGGTATGCCTGATGCCAAGGCCATAG
387906609	38598	NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter)	COL6A2	Feb 18, 2016	na;MedGen:CN029274,OMIM:158810;MedGen:CN517202	BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;Bethlem myopathy 1;not provided	germline	21	46117916	TACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCC
794728813	196505	NM_001035.2(RYR2):c.184C>T (p.Leu62Phe)	RYR2	Aug 15, 2011	MedGen:CN517202	not provided	germline	1	237330893	CCTCTTTCTGTGCAGAATGTGCCCCCAGACCTCTCCATCTGCACCTTTGTGCTGGAGCAGT
185790394	181384	NM_001453.2(FOXC1):c.-244C>T	FOXC1	-	MedGen:CN517202	not provided	inherited	6	1610202	TCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTC
724159975	172106	NM_020461.3(TUBGCP6):c.2215C>T (p.Arg739Ter)	TUBGCP6	Jan 12, 2015	MedGen:C1855056,OMIM:251270	Microcephaly with chorioretinopathy, autosomal recessive	germline	22	50224196	GATGATGACTTCAGCTACGCCCGTGAACTCCGAGACAGGGAGAGAAGGCTGAAGTCCCTGG
397517012	54216	NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter)	PKP2	Aug 18, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1836906,OMIM:609040;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided	germline	12	32822526	CAGAATATCTATATTCAAAACCGGAATATCCAGACTGACAACAACAAAAGTATTGGATGTT
80357352	69958	NM_007294.3(BRCA1):c.4810C>T (p.Gln1604Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	germline	17	43071104	CCATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTC
121434248	18381	NM_000348.3(SRD5A2):c.679C>T (p.Arg227Ter)	SRD5A2	Jun 29, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31529326	GCATTTTTCTCACTTTGTTTCCTTGGGCTGCGAGCTTTTCACCACCATAGGTAAATTTTTC
28942107	18011	NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val)	NPC1	Sep 28, 2016	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline;unknown	18	23536814	TCCTCCTTGGCCATGGCACCAGGGTCGGAGCCACGTACTTCATGACCTACCACACCGTGCT
886042331	266411	NM_001256850.1(TTN):c.77113C>T (p.Gln25705Ter)	TTN	Feb 28, 2017	MedGen:C1858763,OMIM:604145;MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609;MedGen:C1861065,OMIM:613765;MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464;MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922;MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377;MedGen:CN517202	Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Familial hypertrophic cardiomyopathy 9;Hereditary myopathy with early respiratory failure;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided	germline	2	178564096	GTCAAAGACTGTATACGGACTGATGGAGGACAATATATTCTGAAACTCAGCAATGTTGGTG
886042495	267078	NM_004006.2(DMD):c.10477C>T (p.Gln3493Ter)	DMD	Aug 18, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	31169519	TCCCCCCTGAGCCAGCCTCGTAGTCCTGCCCAGATCTTGATTTCCTTAGAGAGTGAGGAAA
746164064	237625	NM_001039213.3(CEACAM16):c.703C>T (p.Arg235Cys)	CEACAM16	Feb 16, 2016	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	19	44705631	CGTGTGGCCATCCTCCAGGATTCCACCACCCGCACAGGCTGCACCATCAAAGTTGACTTCA
1064796853	410400	NM_001083962.1(TCF4):c.652C>T (p.Gln218Ter)	TCF4	Mar 13, 2017	MedGen:CN517202	not provided	germline	18	55279554	ACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGGTAAGATGCTGCTGCTTCTGAGGGAAA
121434615	26377	NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys)	CUL4B	Feb 01, 2007	Gene:114890,MedGen:C1845861,OMIM:300354,Orphanet:ORPHA85293	Syndromic X-linked mental retardation, Cabezas type	germline	X	120539349	ATTTTAGCTAAGTATGTAGATTCAAAACTTCGTGCAGGCAACAAAGAAGCTACAGATGAAG
772381373	359550	NM_000094.3(COL7A1):c.6781C>T (p.Arg2261Ter)	COL7A1	Sep 27, 2016	MedGen:CN517202	not provided	germline	3	48572912	GGGGAGACAGGGAAGCCGGGAGCCCCAGGTCGAGATGGTGCCAGTGGAAAAGATGGAGACA
80357305	69822	NM_007294.3(BRCA1):c.4258C>T (p.Gln1420Ter)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	germline	17	43082503	GAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACC
121918639	27890	NM_003126.3(SPTA1):c.145C>T (p.Leu49Phe)	SPTA1	Aug 01, 1990	MedGen:C1851741,OMIM:130600	Elliptocytosis 2	germline	1	158685227	AAGGAGCGGGTCGCTGAGAGGGGTCAGAAGCTTGAGGATTCCTATCACTTACAAGTTTTCA
1028534806	404661	NM_001696.3(ATP6V1E1):c.634C>T (p.Arg212Trp)	ATP6V1E1	Dec 11, 2017	MedGen:CN241832,OMIM:617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	germline;inherited	22	17592721	ACTTTCTCTCCACAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACA
281865026	46972	NM_024312.4(GNPTAB):c.1196C>T (p.Ser399Phe)	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101770109	AAAGTCACATTCATCGCATCGAAGGGCTGTCCCAGAAGTTTATTTACCTAAATGATGATGT
386134163	51329	NM_002739.4(PRKCG):c.356C>T (p.Ser119Phe)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	not provided	19	53889708	GCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCAT
312262796	49687	NM_024408.3(NOTCH2):c.5857C>T (p.Arg1953Cys)	NOTCH2	Feb 28, 2013	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629	Alagille syndrome 2	not provided	1	119918478	GATGGTACTACACCCCTGATCCTGGCTGCCCGCCTGGCTGTGGAGGGAATGGTGGCAGAAC
137853086	22831	NM_004482.3(GALNT3):c.484C>T (p.Arg162Ter)	GALNT3	Apr 01, 2005	MedGen:C1876187,OMIM:211900,OMIM:610233,Orphanet:ORPHA306661	Tumoral calcinosis, familial, hyperphosphatemic	germline	2	165770217	GCTTTCGCAAGTGACAGGATTTCTTTGCACCGAGATCTTGGACCAGACACTCGACCTCCTG
730881731	180359	NM_000136.2(FANCC):c.319C>T (p.Gln107Ter)	FANCC	Jul 02, 2016	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002;MedGen:CN517202	Fanconi anemia;not provided	germline	9	95240675	CTAATTAACAAAGAACCACAGAATTCTGGACAATCAAAACTTAACTCCTGGATACAGGTAA
121964949	27072	NM_000892.4(KLKB1):c.337C>T (p.Arg113Ter)	KLKB1	Oct 01, 2004	MedGen:C0272339,OMIM:612423,Orphanet:ORPHA749,SNOMED CT:48976006	Prekallikrein deficiency	germline	4	186236789	TCTATGTATTTTTCTTGTACAGCTTGCCATCGAGACATTTATAAAGGAGTTGATATGAGAG
121912810	32587	NM_000083.2(CLCN1):c.566C>T (p.Ser189Phe)	CLCN1	May 01, 2009	MedGen:C2936781,OMIM:160800,SNOMED CT:57938005	Congenital myotonia, autosomal dominant form	germline	7	143321718	CTGCACATAATCTTTCAACGCTTTTAGGCTCTGGAATCCCCGAAATGAAGACAATACTTCG
116840770	46890	NM_000168.5(GLI3):c.3481C>T (p.Gln1161Ter)	GLI3	Sep 13, 2012	MedGen:C0265220,OMIM:146510,Orphanet:ORPHA672,SNOMED CT:56677004	Pallister-Hall syndrome	not provided	7	41965592	CCCGAGGGCAGCAAAACCGACCTGCCCATTCAGTGGAACGAAGTCAGCTCCGGAAGCGCCG
763801533	222413	NM_177438.2(DICER1):c.559C>T (p.Arg187Ter)	DICER1	Oct 20, 2015	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	germline	14	95130072	TGTCATCTTGCAATCCTAGACCACCCCTATCGAGAAATTATGAAGGTAAGTTTTAGACCTA
193922921	39290	NM_007317.2(KIF22):c.443C>T (p.Pro148Leu)	KIF22	Aug 18, 2017	MedGen:C1863732,OMIM:603546,Orphanet:ORPHA93360;MedGen:CN517202	Spondyloepimetaphyseal dysplasia with multiple dislocations;not provided	germline	16	29798641	TGGGCAGCCCAGAGCAACCTGGGGTGATCCCGCGGGCTCTCATGGACCTCCTGCAGCTCAC
868197660	247455	NM_001042413.1(GLIS3):c.1681C>T (p.His561Tyr)	GLIS3	Aug 12, 2016	MedGen:C1857775,OMIM:610199,Orphanet:ORPHA79118	Diabetes mellitus, neonatal, with congenital hypothyroidism	germline	9	4117797	CGCTATAAACTGCTGATCCACATGAGAGTCCACTCTGGGGAGAAGCCCAACAAGTGTACGG
199474685	79573	NM_000448.2(RAG1):c.1331C>T (p.Ala444Val)	RAG1	Mar 02, 2017	MedGen:C1832322,OMIM:601457,Orphanet:ORPHA331206;MedGen:CN517202	Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not provided	germline	11	36574635	GCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCT
104894580	23962	NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp)	KCNJ2	Jan 04, 2017	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Andersen Tawil syndrome;Congenital long QT syndrome;not provided	germline	17	70175238	CAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTG
137852363	25157	NM_000132.3(F8):c.5878C>T (p.Arg1960Ter)	F8	Nov 27, 1986	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904026	GGCTTAGTAATGGCTCAGGATCAAAGGATTCGATGGTATCTGCTCAGCATGGGCAGCAATG
121913304	28129	NM_000321.2(RB1):c.1666C>T (p.Arg556Ter)	RB1	May 13, 2016	MedGen:C0027672,SNOMED CT:699346009;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790;MedGen:CN069793	Hereditary cancer-predisposing syndrome;Neoplasm;Retinoblastoma;Retinoblastoma, trilateral	germline;somatic	13	48381414	ATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCTTGCATGGCTCTCAG
761796175	405672	NM_004369.3(COL6A3):c.2506C>T (p.Arg836Ter)	COL6A3	Jul 28, 2015	MedGen:CN517202	not provided	germline	2	237377336	TCCTAATCTACCTTCATTGCAGAGAGCAAGCGAGACATTCTGTTCCTCTTTGACGGCTCAG
886041884	264528	NM_001170629.1(CHD8):c.3733C>T (p.Arg1245Ter)	CHD8	Jul 08, 2016	MedGen:CN517202	not provided	germline	14	21402485	ATTTTAAACCAGGCCCAGGCACGATGTCATCGAATTGGGCAGAGCAAAGCTGTGAAGGTGT
1131691550	421358	NM_020989.3(CRYGC):c.427C>T (p.Gln143Ter)	CRYGC	Mar 29, 2016	MedGen:CN517202	not provided	germline	2	208128301	CTCTACGAGCTGCCCAACTACCGGGGGCGGCAATACCTGCTGAGGCCCCAAGAGTACAGGC
121909762	21837	NM_032119.3(ADGRV1):c.6901C>T (p.Gln2301Ter)	ADGRV1	Jun 14, 2016	MedGen:CN033130,OMIM:500004,SNOMED CT:57838006;MeSH:D052245,MedGen:C0271097,Orphanet:ORPHA886;MedGen:C1854237,OMIM:605472	Retinitis pigmentosa-deafness syndrome;Usher syndrome;Usher syndrome, type 2C	germline;unknown	5	90690991	AATGTGACCTTTGCCCCTGGGGAAACCATTCAAACCTTGTTGTTAGAGGTCCTGGCTGACG
367643250	136541	NM_004714.2(DYRK1B):c.304C>T (p.Arg102Cys)	DYRK1B	May 15, 2014	MedGen:C4014361,OMIM:615812	Abdominal obesity-metabolic syndrome 3	germline	19	39830443	TATGATGACGACAACCATGACTACATCGTGCGCAGTGGCGAGCGCTGGCTGGAGCGCTACG
886044836	269178	NM_201383.2(PLEC):c.4267C>T (p.Gln1423Ter)	PLEC	Dec 08, 2015	MedGen:C2931072,OMIM:226670,Orphanet:ORPHA257	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	germline	8	143925674	GTGGACGCGCAGCAGCAGAAGCGCAGCATTCAGGAGGAGCTGCAGCAGCTGCGGCAGAGCT
267607235	16044	NM_152778.2(MFSD8):c.1235C>T (p.Pro412Leu)	MFSD8	Oct 01, 2009	MedGen:C1838571,OMIM:610951,Orphanet:ORPHA228366	Ceroid lipofuscinosis neuronal 7	germline	4	127921639	CGATTGAACAAGCCTGGTGCCTCTACACCCCGGTGATTCATCTGGCCCAGTTCCTTACATC
121908131	19465	NM_175073.2(APTX):c.617C>T (p.Pro206Leu)	APTX	Oct 01, 2001	MedGen:C1859598,OMIM:208920,Orphanet:ORPHA1168	Adult onset ataxia with oculomotor apraxia	germline	9	32984784	CAAAGGCCCGTTACCATTGGCTGGTCTTACCGTGGACCTCCATTTCCAGTCTGAAGGCTGT
3218714	29141	NM_000257.3(MYH7):c.1207C>T (p.Arg403Trp)	MYH7	Jul 12, 2017	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:C1834481,OMIM:613426;MedGen:C3495498,OMIM:192600;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135;Gene:619511,MedGen:C1850709,OMIM:255160;MedGen:C1842160,OMIM:608358,SNOMED CT:699267007;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;Gene:8090,MedGen:CN074265,OMIM:181430,Orphanet:ORPHA437572;MedGen:CN517202	Congenital myopathy with fiber type disproportion;Dilated cardiomyopathy 1S;Familial hypertrophic cardiomyopathy 1;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Myopathy, distal, 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Scapuloperoneal myopathy, MYH7-related;not provided	germline;unknown	14	23429279	GCCGACCTGCTCAAGGGGCTGTGCCACCCTCGGGTGAAAGTGGGCAATGAGTACGTCACCA
104894142	16835	NM_000102.3(CYP17A1):c.1084C>T (p.Arg362Cys)	CYP17A1	Jan 01, 2004	MedGen:CN042980	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102832566	CTGCTGGAGGCCACCATCCGAGAGGTGCTTCGCCTCAGGCCCGTGGCCCCTATGCTCATCC
111033826	36545	NM_000155.3(GALT):c.553C>T (p.Pro185Ser)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648160	GGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTC
745517517	270173	NM_001128227.2(GNE):c.268C>T (p.Arg90Ter)	GNE	Jul 11, 2017	MedGen:C1833373,OMIM:600737	Inclusion body myopathy 2	germline	9	36246472	TTATTTCTCCCCGGCTTTAGAAATACATATCGAATGATTGAACAAGATGACTTTGACATTA
387907239	44236	NM_002144.3(HOXB1):c.619C>T (p.Arg207Cys)	HOXB1	Jul 13, 2012	MedGen:C3553625,OMIM:614744	Hereditary congenital facial paresis 3	germline	17	48529834	GAGCCAGGCCTGGGCTCGCCCAGTGGCCTCCGCACCAACTTCACCACAAGGCAGCTGACAG
121918478	28343	NM_000506.3(F2):c.1381C>T (p.Arg461Trp)	F2	Jun 01, 2009	MedGen:C0272317,SNOMED CT:33297000	Hereditary factor II deficiency disease	germline	11	46728746	CCCAGGTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAAGAAGC
369483167	143189	NM_016122.2(CEP83):c.625C>T (p.Arg209Ter)	CEP83	Jun 05, 2014	MedGen:C3890591,OMIM:615862	Nephronophthisis 18	germline	12	94378967	CTTAATGTTGATCTCACAAAAGACAGCAAACGAGTGGAACAACTTGCTCGAGAAAAAGTCT
104893677	33106	NM_031850.3(AGTR1):c.950C>T (p.Thr317Met)	AGTR1	Sep 01, 2005	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001	Renal dysplasia	germline	3	148741880	GTGACTGTAGAATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTTGTATAGCTTA
121908363	19865	NM_000441.1(SLC26A4):c.2162C>T (p.Thr721Met)	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome	germline;unknown	7	107710126	ACAACATTAGAAAGGACACATTCTTTTTGACGGTCCATGATGCTATACTCTATCTACAGAA
202074612	432123	NM_000444.5(PHEX):c.142C>T (p.Gln48Ter)	PHEX	Oct 31, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline;maternal	X	22038492	TTTTCAGTGAGTCAAGGTCTCTTAAGTCTCCAAGCTAAACAGGAGTACTGCCTGAAGCCAG
1135401814	424657	NM_006077.3(MICU1):c.1048C>T (p.Gln350Ter)	MICU1	Jan 06, 2017	MedGen:C3810285,OMIM:615673,Orphanet:ORPHA401768	Myopathy with extrapyramidal signs	maternal	10	72423263	CAGTCCAAGAAGCTGACCGCCATGCAGAGGCAGCTCAAGAAGCACTTCAAAGAAGGAAAGG
267606856	15235	NM_001080476.2(GRXCR1):c.412C>T (p.Arg138Cys)	GRXCR1	Feb 12, 2010	MedGen:C1414017,OMIM:613285	Deafness, autosomal recessive 25	germline	4	42962919	CAGCAACCATCAACTGATCTAGAATTTGACCGTGTAGTGATTTATACCACCTGCCTTCGTG
121908602	21168	NM_012082.3(ZFPM2):c.334C>T (p.Arg112Ter)	ZFPM2	Jul 01, 2005	MedGen:C1857781,OMIM:610187	Diaphragmatic hernia 3	germline	8	105561395	GAGCTGGAGGTGTTTCAGAAAGATGGGGAACGAAAAATTCAGAGTCGACAGCAACTTCCAG
104894324	20161	NM_020661.3(AICDA):c.70C>T (p.Arg24Trp)	AICDA	Sep 01, 2000	MedGen:C1720956,OMIM:605258,Orphanet:ORPHA101089	Immunodeficiency with hyper IgM type 2	germline	12	8606951	CAATTCAAAAATGTCCGCTGGGCTAAGGGTCGGCGTGAGACCTACCTGTGCTACGTAGTGA
61732609	15287	NM_000398.6(CYB5R3):c.478C>T (p.Arg160Ter)	CYB5R3	May 26, 2017	MedGen:C2749560;MedGen:CN517202	Methemoglobinemia type 2;not provided	germline	22	42627674	CCTTCTCTCTCCCCAGGGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCCTATCATCA
1057517833	359937	NM_000192.3(TBX5):c.670C>T (p.Gln224Ter)	TBX5	Nov 02, 2016	MedGen:CN517202	not provided	germline	12	114385561	GTTCTCTCTTCCTCTTTCCTTCAGATCACGCAATTAAAGATTGAGAATAATCCCTTTGCCA
748090019	247749	NM_016004.4(IFT52):c.424C>T (p.Arg142Ter)	IFT52	Aug 30, 2016	MedGen:C4310718,OMIM:617102	Short-rib thoracic dysplasia 16 with or without polydactyly	germline	20	43605012	TTTAATTTTTCTTCTTCAAGGGAAATTAGCCGAGCTGCAGGAAAGGCTGTGCCTGGGATCA
587777111	106503	NM_004366.5(CLCN2):c.1499C>T (p.Ala500Val)	CLCN2	Sep 09, 2015	MedGen:C3810242,OMIM:615651,Orphanet:ORPHA363540	Leukoencephalopathy with ataxia	germline	3	184354556	GCACCTACCGGATTGTGCCTGGGGGCTACGCTGTGGTCGGTGAGTGCCTCAGGTCCCATCG
778884343	482157	NM_207346.2(TSEN54):c.1117C>T (p.Gln373Ter)	TSEN54	Aug 04, 2017	MedGen:CN517202	not provided	germline	17	75522198	CAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGG
372949456	370420	NM_017890.4(VPS13B):c.2788C>T (p.Gln930Ter)	VPS13B	Jan 09, 2017	MedGen:CN517202	not provided	germline	8	99275218	TTAGCTCCAGATTTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACA
587784422	170161	NM_006306.3(SMC1A):c.586C>T (p.Arg196Cys)	SMC1A	Sep 05, 2015	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	de novo;germline	X	53413261	TACCATCGCAAGAAAAATATTGCGGCTGAACGCAAGGAAGCAAAGCAGGAGAAAGAAGAGG
104895549	16632	NM_001127255.1(NLRP7):c.1951C>T (p.Pro651Ser)	NLRP7	Aug 01, 2009	MedGen:C2931618,OMIM:231090,Orphanet:ORPHA254685	Hydatidiform mole	germline	19	54938222	TTCTCCTGCAGGTGCACTTACCTAACCATTCCGAACTGGGCTCGGCAGGATCTTCGCTCTC
267607003	15307	NM_001134363.2(RBM20):c.1913C>T (p.Pro638Leu)	RBM20	Nov 17, 2016	MedGen:C2750995,OMIM:613172;MedGen:C1834481,OMIM:613426;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1DD;Dilated cardiomyopathy 1S;Primary dilated cardiomyopathy;not provided	germline;inherited	10	110812310	ATGGCCCAGAAAGGCCGCGGTCTCGTAGTCCGGTGAGCCGGTCACTCTCCCCGAGGTCCCA
377656387	40286	NM_004453.3(ETFDH):c.1448C>T (p.Pro483Leu)	ETFDH	Aug 01, 2007	MedGen:C4016438	Glutaric acidemia iic, late-onset	germline	4	158706351	TCTTTTACTGGATATTGAGAGGAATGGAGCCGTGGACTCTGAAACATAAAGGTAATTCAAA
773844428	194658	NM_000260.3(MYO7A):c.5968C>T (p.Gln1990Ter)	MYO7A	Jan 20, 2015	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77208720	GCTGCAGGAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAGAAGCTGTGGACCA
779869631	264310	NM_020632.2(ATP6V0A4):c.334C>T (p.Gln112Ter)	ATP6V0A4	Jul 06, 2016	MedGen:CN517202	not provided	germline	7	138762983	AAACTGGAAGGAGAGTTACAGGAAGCCAACCAGAACCAGCAGGCCTTGAAACAAAGCTTCC
786204910	187323	NM_000314.6(PTEN):c.49C>T (p.Gln17Ter)	PTEN	Jul 30, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	germline	10	87864518	GAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCT
398122524	94575	NM_001271684.1(SLC35A3):c.514C>T (p.Gln172Ter)	SLC35A3	Dec 05, 2013	MedGen:C3809910,OMIM:615553,Orphanet:ORPHA370943	Arthrogryposis, mental retardation, and seizures	germline	1	100011413	CTTGATTCTAAGGAACTTTCAGCTGGTTCTCAATTTGTAGGACTCATGGCAGTTCTCACAG
730881388	180433	NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter)	ATM	May 15, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108271378	GACTCTGAGAACACAAGGGATGCTCAAGGACAGTTTCTTACAGTAATTGGAGCATTTTGGT
9378251	27192	NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu)	CYP21A2	Jul 28, 2017	MedGen:C0852654,OMIM:201910	21-hydroxylase deficiency	germline;unknown	6	32038514	ACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCT
1057519522	362313	NM_001005463.2(EBF3):c.616C>T (p.Arg206Ter)	EBF3	Jul 11, 2017	MedGen:C4310618,OMIM:617330;na;MedGen:CN517202	Hypotonia, ataxia, and delayed development syndrome;Neurodevelopmental disorder;not provided	de novo;germline	10	129877788	CAGAACTGTTTGAAGAATGCAGGCAACCCTCGAGATATGCGGAGATTCCAGGTATACATTT
180177110	152117	NM_024675.3(PALB2):c.2257C>T (p.Arg753Ter)	PALB2	Jun 30, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	16	23629897	TATGAAAAAGCATCTACAGAAGTTGCTGGACGAACTTGCTGCACACCCCAACTTGCTCATT
72558494	102995	NM_000531.5(OTC):c.1042C>T (p.Gln348Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38421059	ATGGTGTCCCTGCTGACAGATTACTCACCTCAGCTCCAGAAGCCTAAATTTTGATGTTGTG
137854594	25971	NM_000397.3(CYBB):c.301C>T (p.His101Tyr)	CYBB	Oct 01, 1998	MedGen:C1844378;MedGen:CN517202	Granulomatous disease, chronic, X-linked, variant;not provided	germline	X	37792023	CGAAGACAACTGGACAGGAATCTCACCTTTCATAAAATGGTGGCATGGATGATTGCACTTC
80356680	29580	NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter)	LAMB3	Sep 16, 2016	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006;MedGen:CN517202	Junctional epidermolysis bullosa gravis of Herlitz;not provided	germline;unknown	1	209650023	GACCTGCTTGTTGGGAGGACCCGGTTTCTCCGAGCTTCATCTACCTGTGGACTGACCAAGC
376682593	442115	NM_000435.2(NOTCH3):c.3040C>T (p.Arg1014Cys)	NOTCH3	Feb 10, 2017	MedGen:CN517202	not provided	germline	19	15180783	TGCAGCCGCCAGCCTTGTCAAAACGGGGGTCGCTGCGTCCAGACTGGGGCCTATTGCCTTT
886037860	247638	NM_001193464.1(DYNC2LI1):c.662C>T (p.Thr221Ile)	DYNC2LI1	Aug 25, 2016	MedGen:C4310724,OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	germline	2	43800845	AATTTGTTCTCCTGATTTGTTTAAAGTTTACCAGTAAATCAGAAGCTCTATTACTAAAAAT
745814294	223312	NM_018297.3(NGLY1):c.930C>T (p.Gly310=)	NGLY1	Jan 07, 2016	MedGen:C3808991,OMIM:615273,Orphanet:ORPHA404454	Congenital disorder of deglycosylation	inherited	3	25737407	ACTTTTGGAAACAAGATGTGGACGGTGTGGCGAGTGGGCCAATTGTTTTACACTGTGCTGC
777849257	234014	NM_000051.3(ATM):c.2023C>T (p.Gln675Ter)	ATM	Nov 01, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108253938	ATTGTGAGAGAATGTGGTATAGAAAAGCACCAGTCCAGTATTGGCTTCTCTGTCCACCAGA
137853243	29981	NM_000545.6(HNF1A):c.335C>T (p.Pro112Leu)	HNF1A	Dec 07, 2016	MedGen:C1838100,OMIM:600496;MedGen:CN517202	Maturity-onset diabetes of the young, type 3;not provided	germline	12	120988841	TCCCGTCCTTGCCCTCTCCCAGGGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAGTCCTA
267607027	19108	NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter)	SAMHD1	Apr 01, 2010	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36935048	TACTATGTTTTTCCAGGAGCTTCACACAATCGATTTGAGCATAGTCTAGGGTAAGAAGGGA
587784267	169353	NM_000430.3(PAFAH1B1):c.430C>T (p.Arg144Ter)	PAFAH1B1	Feb 22, 2016	MedGen:C1843916,OMIM:607432;MedGen:CN517202	Lissencephaly 1;not provided	germline	17	2670193	GTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTAC
373804633	132702	NM_002894.2(RBBP8):c.298C>T (p.Arg100Trp)	RBBP8	Feb 01, 2014	MedGen:C1847572,OMIM:606744	Seckel syndrome 2	germline	18	22968855	GATCGCTGTGCAGTAACTGAAGAACATATGCGGAAAAAACAGCAAGAGTTTGAAAATATCC
118204083	16545	NM_000298.5(PKLR):c.487C>T (p.Arg163Cys)	PKLR	May 01, 1991	MedGen:C1849472,OMIM:266200	Pyruvate kinase deficiency of red cells	germline	1	155295457	ATCGCCCTGGACACCAAGGGACCGGAGATCCGCACTGGGATCCTGCAGGGGGTGAGCAGTG
128626238	26281	NM_000109.3(DMD):c.700C>T (p.Gln234Ter)	DMD	Mar 01, 1994	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32699219	ATCACATCACTCTTCCAAGTTTTGCCTCAACAAGTGAGCATTGAAGCCATCCAGGAAGTGG
104894976	24791	NM_003140.2(SRY):c.397C>T (p.Arg133Trp)	SRY	May 01, 1997	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787207	AAATACCCGAATTATAAGTATCGACCTCGTCGGAAGGCGAAGATGCTGCCGAAGAATTGCA
761821795	268881	NM_024301.4(FKRP):c.313C>T (p.Gln105Ter)	FKRP	Nov 18, 2015	MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	germline	19	46755763	CGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCT
587781196	165751	NM_130838.1(UBE3A):c.1201C>T (p.Arg401Ter)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25370913	GGAGAAGAAAGAAGAAACAAGAAAGGTCCTCGAGTGGACCCCCTGGAAACTGAACTTGGTG
794727298	192495	NM_017780.3(CHD7):c.1465C>T (p.Gln489Ter)	CHD7	Jan 26, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60742897	GGTTGTCCTGGTGTTGGCCTTGGAGACCCACAAGCAATCCAGGAACGACTGATACCTGGCC
80356693	33890	NM_000083.2(CLCN1):c.1412C>T (p.Ser471Phe)	CLCN1	Apr 12, 2011	MedGen:C0027127,Orphanet:ORPHA206973	Myotonia congenita	not provided	7	143339263	AACGCTTCTTTCTACTCCAGTTCTGGATGTCCATCGTGGCCACCACTATGCCCATACCCTG
121434384	17241	NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter)	VPS33B	Dec 01, 2007	MedGen:C1859722,OMIM:208085,Orphanet:ORPHA2697	Arthrogryposis renal dysfunction cholestasis syndrome	germline	15	91002143	CCTGAGCACCTGCTAACCTTCTCCAATCTGCGAAGAGCTGGGCTCCTAACGGAGCAGGCCC
397509390	59804	NM_201647.3(STAMBP):c.1270C>T (p.Arg424Ter)	STAMBP	Oct 19, 2015	MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016	Microcephaly-capillary malformation syndrome	germline	2	73862254	GTGGACAGAGCAGTGACCATCACAGACCTTCGATGAGCGTTTGAGTCCAACACCTTCCAAG
397516317	52452	NM_000260.3(MYO7A):c.5392C>T (p.Gln1798Ter)	MYO7A	May 17, 2016	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:CN517202	Usher syndrome, type 1;not provided	germline	11	77204141	AGGACACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGCCGAGC
104894654	23345	NM_001390.4(DTNA):c.362C>T (p.Pro121Leu)	DTNA	Mar 06, 2001	MedGen:C1858725,OMIM:604169	Left ventricular noncompaction 1	germline	18	34794250	TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTCTGTTCCTCTC
1057519342	362092	NM_014855.2(AP5Z1):c.1732C>T (p.Gln578Ter)	AP5Z1	Jan 26, 2017	MedGen:C3150901,OMIM:613647,Orphanet:ORPHA306511	Spastic paraplegia 48, autosomal recessive	germline	7	4789856	CCCCAGGTGGCTGACGGGTCCCTGATCAACCAGCTGGCGCTGCTGCTCCTGGGCAGGAGCG
74315496	18329	NM_000268.3(NF2):c.784C>T (p.Arg262Ter)	NF2	Aug 01, 1994	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29661313	CCCAAGATCTCCTTCCCGTGGAATGAAATCCGAAACATCTCGTACAGTGACAAGGAGGTAG
104894655	20564	NM_003673.3(TCAP):c.157C>T (p.Gln53Ter)	TCAP	Oct 09, 2009	MedGen:C1843791,OMIM:607487;MedGen:C1866008,OMIM:601954,Orphanet:ORPHA34514;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004	Dilated cardiomyopathy 1N;Limb-girdle muscular dystrophy, type 2G;Primary dilated cardiomyopathy	germline	17	39665762	GAGGACACCCAGAGACATGAGACCTACCACCAGCAGGGGCAGTGCCAGGTGCTGGTGCAGC
121913646	29152	NM_000257.3(MYH7):c.1925C>T (p.Ser642Leu)	MYH7	Oct 18, 2002	MedGen:C1834481,OMIM:613426	Dilated cardiomyopathy 1S	germline	14	23427271	AGAAGGGCAAAGGCAAGGCCAAGAAAGGCTCGTCCTTTCAGACTGTGTCAGCTCTGCACAG
113994126	16134	NM_000642.2(AGL):c.16C>T (p.Gln6Ter)	AGL	Mar 11, 2016	MedGen:C1968740;MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease IIIb;Glycogen storage disease type III	germline;unknown	1	99851058	CCTCTAGAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGG
375278294	239337	NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter)	CC2D2A	Nov 21, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	germline	4	15574207	CCCCCAGTTCTTCTGGGCTACAGTAAGGAGCGAAATATGATTCTTGAGCGGGGTTTTGATT
387906836	39217	NM_003322.5(TULP1):c.1198C>T (p.Arg400Trp)	TULP1	Apr 01, 2004	MedGen:C3151206,OMIM:613843	Leber congenital amaurosis 15	germline	6	35503763	CGTGGGTACAGCACTAATGTGGCAAGCCTTCGGCAGGAGCTGGCAGCTGTGATCTATGTGA
-1	482024	NM_003482.3(KMT2D):c.12667C>T (p.Gln4223Ter)	KMT2D	Jan 09, 2018	MedGen:CN517202	not provided	germline	12	49032038	CACTTAAGTCCTCAGCAGCAGCAGCAGCTACAGGCACTCCTCATGCAGCGGCAGCTGCAGC
587777492	143202	NM_021072.3(HCN1):c.299C>T (p.Ser100Phe)	HCN1	Jun 01, 2014	MedGen:C4014531,OMIM:615871	Epileptic encephalopathy, early infantile, 24	germline	5	45695795	AGTACGGCTTCATGCAGAGGCAGTTCACCTCCATGCTGCAGCCCGGGGTCAACAAATTCTC
750868279	361952	NM_001282225.1(ADA2):c.740C>T (p.Ala247Val)	ADA2	Jan 13, 2017	MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:310701003	Behcet's syndrome	germline	22	17203576	AGGACAACGTGCTCTACATGGAGATCAGAGCCAGGCTGCTGCCGGTGAGCCCAGCTCTCCT
104893819	27558	NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter)	TGFBR2	May 27, 2017	MedGen:C2697932,Orphanet:ORPHA60030,SNOMED CT:446263001;MedGen:C2674876,OMIM:610168;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Loeys-Dietz syndrome;Loeys-Dietz syndrome 2;Thoracic aortic aneurysm and aortic dissection;not provided	germline	3	30688470	GAAAGCATGAAGGACAACGTGTTGAGAGATCGAGGGCGACCAGAAATTCCCAGCTTCTGGC
587777177	106800	NM_006767.3(LZTR1):c.365C>T (p.Ser122Leu)	LZTR1	Mar 04, 2014	MedGen:C3810283,OMIM:615670	Schwannomatosis 2	unknown	22	20987548	GGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGT
886041169	264283	NM_017780.3(CHD7):c.4189C>T (p.Gln1397Ter)	CHD7	Jun 03, 2016	MedGen:CN517202	not provided	germline	8	60837671	TAACTATTAATTTCATTTTTCTTCCAGGCTCAGGCTAGATGTCATAGAATAGGACAGAGCA
886039255	259346	NM_001242896.1(DEPDC5):c.856C>T (p.Arg286Ter)	DEPDC5	Jul 01, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31797688	AAACTCTTCATCCAGTATCCAGTGTTGGTGCGACTGGAACAGGCAGGTACTGCATTCATGT
137852240	25629	NM_000133.3(F9):c.676C>T (p.Arg226Trp)	F9	Dec 15, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139551217	CAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAG
137852212	446500	NM_194277.2(FRMD7):c.685C>T (p.Arg229Cys)	FRMD7	Aug 11, 2017	MedGen:CN517202	not provided	germline	X	132084546	AAGATCAATACTTTTAACTGGGCTAAAATCCGCAAGTTGAGTTTTAAGAGAAAGCATTTTC
991227431	482001	NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter)	IGHMBP2	Feb 24, 2017	MedGen:CN517202	not provided	germline	11	68936293	CGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCC
137852581	24873	NM_000044.4(AR):c.2623C>T (p.His875Tyr)	AR	May 25, 1995	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	germline	X	67723701	TATTGTTCCCTACAGATTGCGAGAGAGCTGCATCAGTTCACTTTTGACCTGCTAATCAAGT
-1	444578	NM_006624.5(ZMYND11):c.82C>T (p.Gln28Ter)	ZMYND11	Sep 19, 2017	MedGen:CN517202	not provided	germline	10	180094	CTTTGGGCAGCCATTGAGATTATACGGAACCAGAAGCAGATTGCCAACATTGACCGTATTA
267606846	17119	NM_020435.3(GJC2):c.778C>T (p.Arg260Cys)	GJC2	Jun 11, 2010	MedGen:C3150732,OMIM:613480	Lymphedema, hereditary, IC	germline	1	228158536	TGCCCGCACGTGGTGGACTGCTTCGTGTCGCGCCCTACTGAAAAGACGGTCTTCCTGCTGG
63750048	23892	NM_000447.2(PSEN2):c.254C>T (p.Ala85Val)	PSEN2	Apr 22, 2008	MedGen:C1847200,OMIM:606889;MedGen:CN517202	Alzheimer disease, type 4;not provided	germline	1	226883817	TGGAGGAAGAGCTGACCCTCAAATACGGAGCGAAGCACGTGATCATGCTGTTTGTGCCTGT
200075782	39327	NM_003560.3(PLA2G6):c.109C>T (p.Arg37Ter)	PLA2G6	Oct 31, 2017	MedGen:C0270724,OMIM:256600,Orphanet:ORPHA35069,SNOMED CT:52713000;Human Phenotype Ontology:HP:0012675,MedGen:C4021076;MedGen:CN517202	Infantile neuroaxonal dystrophy;Iron accumulation in brain;not provided	germline	22	38169318	GTGGCTGTGGCCGACTACACCTCGAGTGACCGAGTTCGGGAGGAAGGGCAGCTGATTCTGT
863224971	213890	NM_000166.5(GJB1):c.-103C>T	GJB1	Jun 29, 2017	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy	germline	X	71223249	GCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACA
41286844	32077	NM_000066.3(C8B):c.1282C>T (p.Arg428Ter)	C8B	Oct 16, 2017	MedGen:C3151080,OMIM:613789;MedGen:CN517202	Complement component 8 deficiency type 2;not provided	germline	1	56940965	ACCATGGTGGAGGACTTGGTGGTCCTGGTACGAGGAGGGGCAAGTGAGCACATCACCACCC
1057519317	361900	NM_138393.2(REEP6):c.383C>T (p.Pro128Leu)	REEP6	Jan 19, 2017	MedGen:C4310626,OMIM:617304	Retinitis pigmentosa 77	germline	19	1496319	CCTTCCTGTTGTTCTGCATGGCTCCCAGGCCCTGGAACGGGGCTCTCATGCTGTATCAGCG
104894739	25816	NM_003916.4(AP1S2):c.106C>T (p.Gln36Ter)	AP1S2	Dec 01, 2006	MedGen:C0796254,OMIM:304340,Orphanet:ORPHA1568	Pettigrew syndrome	germline	X	15852419	GAGAAGAAAAAGATCACAAGAGAACTTGTTCAGACCGTTTTAGCACGGAAACCTAAAATGT
137852840	17729	NM_015404.3(WHRN):c.307C>T (p.Gln103Ter)	WHRN	Apr 01, 2007	MedGen:C1568249,OMIM:611383	Usher syndrome, type 2D	germline	9	114504495	ATGCTTCGTCTGGTCATCCCGCGCTCCGACCAGCTGCTCTTCGACCAATACACGGCCGAGG
113994154	17162	NM_207346.2(TSEN54):c.1027C>T (p.Gln343Ter)	TSEN54	Sep 08, 2009	MedGen:C1856974,OMIM:225753,Orphanet:ORPHA166063	Pontocerebellar hypoplasia type 4	germline	17	75522108	GACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAAC
80358844	66668	NM_000059.3(BRCA2):c.6070C>T (p.Gln2024Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32340425	GTATTGTTTAAAAGTAACGAACATTCAGACCAGCTCACAAGAGAAGAAAATACTGCTATAC
267607503	77330	NM_002055.4(GFAP):c.1091C>T (p.Ala364Val)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911272	ATGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAGCTGCTAGAGGGCGAGGA
118192214	34660	NM_172107.3(KCNQ2):c.967C>T (p.Gln323Ter)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63438681	GGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGC
368505753	68093	NM_000492.3(CFTR):c.200C>T (p.Pro67Leu)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Cystic fibrosis;Hereditary pancreatitis	germline;unknown	7	117509069	GGGATAGAGAGCTGGCTTCAAAGAAAAATCCTAAACTCATTAATGCCCTTCGGCGATGTTT
398124532	102374	NM_144997.5(FLCN):c.1597C>T (p.Gln533Ter)	FLCN	May 17, 2017	MedGen:CN517202	not provided	germline	17	17213798	AAGGTGGACAGTCGACCCAAAGAGGACACACAGAAGCTGCTGAGCATCCTGGGTGCGTCCG
80358928	66918	NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter)	BRCA2	Mar 16, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32354877	TCTCCCCATTGCAGCACAACTAAGGAACGTCAAGAGATACAGAATCCAAATTTTACCGCAC
375699023	223602	NM_024675.3(PALB2):c.1042C>T (p.Gln348Ter)	PALB2	Jul 28, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	16	23635504	CCAGCAAATGAAAACCAAAACTTAAAAGAACAAAATCAAACAGAGAAATCTTTAAAATCTC
121912776	32674	NM_000719.6(CACNA1C):c.116C>T (p.Ala39Val)	CACNA1C	Apr 10, 2014	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:C2678478,OMIM:611875	Brugada syndrome;Brugada syndrome 3	germline	12	2115290	ACATGAATGCCAATGCGGCAGCGGGGCTGGCCCCTGAGCACATCCCCACCCCGGGGGCTGC
199422250	47537	NM_001363.4(DKC1):c.1150C>T (p.Pro384Ser)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154773244	GACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGTAAGTGGTACTGGGTTGCGTGCCC
797045143	205535	NM_032737.3(LMNB2):c.469C>T (p.His157Tyr)	LMNB2	Aug 15, 2015	MedGen:C4225289,OMIM:616540,Orphanet:ORPHA457265	Epilepsy, progressive myoclonic, 9	germline	19	2438464	GGCCGTGTGAAGGACCTGGAGTCCCTGTTCCACCGGAGCGAGGTGGAGCTGGCAGCTGCCC
121908489	20807	NM_003919.2(SGCE):c.289C>T (p.Arg97Ter)	SGCE	Nov 17, 2016	MedGen:C1834570,OMIM:159900,Orphanet:ORPHA36899,SNOMED CT:439732004	Myoclonic dystonia	germline	7	94628303	TTTAATACAAATTTAATGGGTTACCCAGACCGACCTGGATGGCTTCGATATATCCAAAGGA
199469646	106425	NM_017415.2(KLHL3):c.1723C>T (p.Arg575Trp)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137625765	ACGCTGCTTCCAACGAACATGAGCACGGGGCGGAGCTATGCAGGTCAGTGTGTGCCATCTC
886037964	248903	NM_006545.4(NPRL2):c.883C>T (p.Arg295Ter)	NPRL2	Sep 21, 2016	MedGen:C4310709,OMIM:617116	Epilepsy, familial focal, with variable foci 2	germline	3	50348173	TACTGCAGCCTGAGCCCTGGCACTACCGTGCGAGACCTCATTGGCCGCCACCCCCAGCAGC
1057519360	224597	NM_005957.4(MTHFR):c.416C>T (p.Thr139Met)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11801220	CCTGCTGCCGTCAGCGCCTGGAGGAGATCACGGGCCATCTGCACAAAGCTAAGCAGCTGGG
1060502274	397217	NM_000264.4(PTCH1):c.1882C>T (p.Gln628Ter)	PTCH1	May 14, 2016	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	germline	9	95469119	TGCGTCAGCAGAGTGATTCAGGTTGAACCTCAGGCCTACACCGACACACACGACAATACCC
104893957	23491	NM_001453.2(FOXC1):c.392C>T (p.Ser131Leu)	FOXC1	Jun 01, 1998	MedGen:C1866560,OMIM:601631	Anterior segment dysgenesis 3	germline	6	1610837	GCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCG
762552974	421464	NM_001163435.2(TBCK):c.1039C>T (p.Arg347Ter)	TBCK	May 30, 2017	MedGen:CN517202	not provided	germline	4	106244657	GAGAAAGAGCTTGTCAACAAGGAAATCATTCGATCCAAACCACCTATCTGCACACTCCCCA
780718243	422101	NM_005682.6(ADGRG1):c.235C>T (p.Arg79Ter)	ADGRG1	Oct 09, 2015	MedGen:CN517202	not provided	germline	16	57651370	GCCCCTTTCCCTGCAGCCCACCCTGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACC
765887545	414328	NM_001204.6(BMPR2):c.1750C>T (p.R584*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202555415	AGCACACCTTTGACTATAGGGGAAAAAAACCGAAATTCAATTAACTATGAACGACAGCAAG
1057520533	368264	NM_000060.4(BTD):c.866C>T (p.Ala289Val)	BTD	Mar 04, 2015	MedGen:CN517202	not provided	germline	3	15644722	TGGCAGCAATTGAGATTCAGAAAGCTTTTGCTGTTGCCTTTGGCATCAACGTTCTGGCAGC
143912947	205201	NM_005932.3(MIPEP):c.916C>T (p.Leu306Phe)	MIPEP	Dec 01, 2016	MedGen:C4310661,OMIM:617228,Orphanet:ORPHA478049	Combined oxidative phosphorylation deficiency 31	germline	13	23869319	GTGGGGTATTCCACGTTTTCTCACAGGGCTCTCCAAGGAACGATAGCTAAAAATCCAGGTA
121434322	16785	NM_005142.2(GIF):c.137C>T (p.Ser46Leu)	GIF	Mar 15, 2005	MedGen:C1394891,OMIM:261000	Intrinsic factor deficiency	germline	11	59843998	TCAATGGAATACAAGTACTCATGGAGAACTCGGTGACTTCATCAGCCTACCCAAACCCCAG
398122928	48492	NM_001142339.2(GNAL):c.61C>T (p.Arg21Ter)	GNAL	Jan 01, 2013	MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466	Dystonia 25	germline	18	11752494	ACGGAAGACCAGGGCGTCGATGAAAAAGAACGACGCGAGGCCAACAAAAAGATCGAGAAGC
515726181	136326	NM_015713.4(RRM2B):c.121C>T (p.Arg41Trp)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102232232	GAAGAGCCACTCCTAAGAAAGAGTTCTCGCCGGTTTGTCATCTTTCCAATCCAGTACCCTG
1057517744	360306	NM_000458.3(HNF1B):c.541C>T (p.Arg181Ter)	HNF1B	Aug 24, 2015	MedGen:CN517202	not provided	germline	17	37739443	TGGTACGTCAGAAAGCAACGAGAGATCCTCCGACGTAAGTGTTTTCATCCTGCCTCTGCCT
121917740	28161	NM_000537.3(REN):c.1159C>T (p.Arg387Ter)	REN	Dec 02, 1994	MedGen:C4016362	Hyperproreninemia, familial	germline	1	204155078	CCCACCTGGGCCCTGGGGGCCACCTTCATCCGAAAGTTCTACACAGAGTTTGATCGGCGTA
186214592	99665	NM_001110556.1(FLNA):c.4543C>T (p.Arg1515Ter)	FLNA	Feb 28, 2013	MedGen:C0265251,OMIM:311300,Orphanet:ORPHA90650,SNOMED CT:54036001;MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Oto-palato-digital syndrome, type I;Periventricular nodular heterotopia 1	germline	X	154358500	GGCACCCAGACCGTCAATTATGTGCCCAGCCGAGAAGGGCCCTACAGCATCTCAGTACTGT
137853005	20648	NM_006017.2(PROM1):c.1726C>T (p.Gln576Ter)	PROM1	Jan 30, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C2677516,OMIM:612095	Retinal dystrophy;Retinitis pigmentosa;Retinitis pigmentosa 41	germline;unknown	4	15994028	AATAGAGGCACTTACGGCACTCTTCACCTGCAGAACAGCTTCAATATCAGTGAACATCTCA
398123065	98157	NM_001710.5(CFB):c.766C>T (p.Gln256Ter)	CFB	Oct 24, 2013	MedGen:C3809950,OMIM:615561	Complement factor B deficiency	germline	6	31947950	CCTGAGCCACTCTCCTGGCACCCAGGGGAACAACAGAAGCGGAAGATCGTCCTGGACCCTT
121917766	27356	NM_002253.2(KDR):c.3439C>T (p.Pro1147Ser)	KDR	Sep 19, 2013	Gene:7909,MedGen:C1865871,OMIM:602089;MedGen:CN169374	Hemangioma, capillary infantile;not specified	germline;somatic	4	55088939	CAGACCATGCTGGACTGCTGGCACGGGGAGCCCAGTCAGAGACCCACGTTTTCAGAGTTGG
372691318	65582	NM_005006.6(NDUFS1):c.1669C>T (p.Arg557Ter)	NDUFS1	Jul 01, 2010	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	2	206130127	CTCCTGGGAGCAGATGGAGGTTGTATCACACGACAGGATTTGCCAAAGGATTGTTTCATTA
794726759	187730	NM_001165963.1(SCN1A):c.4933C>T (p.Arg1645Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	paternal	2	165992342	TTCCGAGTGATCCGTCTTGCTAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGCAAAGG
-1	451767	NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter)	ALMS1	Apr 28, 2017	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome	germline	2	73424716	GATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATT
-1	473772	NM_000038.5(APC):c.22C>T (p.Gln8Ter)	APC	Aug 09, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112754912	TAGCCAAGGATGGCTGCAGCTTCATATGATCAGTTGTTAAAGCAAGTTGAGGCACTGAAGA
796052407	202545	NM_001909.4(CTSD):c.299C>T (p.Ser100Phe)	CTSD	Jan 07, 2015	MedGen:CN517202	not provided	germline	11	1759569	AGTGCTTCACAGTCGTCTTCGACACGGGCTCCTCCAACCTGTGGGTCCCCTCCATCCACTG
755546887	401422	NM_000135.2(FANCA):c.2851C>T (p.Arg951Trp)	FANCA	Sep 28, 2016	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002	Fanconi anemia	germline	16	89761950	CCTGAAGCTGATGCTCTTTCAGATACTGAACGGTAAGTGTTGAAAAGAGCTACCCTGGCCA
121964874	27276	NM_004360.4(CDH1):c.2095C>T (p.Gln699Ter)	CDH1	Nov 06, 2012	MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary diffuse gastric cancer	germline	16	68823557	GAAGGGGCCGCTGGCGTCTGTAGGAAGGCACAGCCTGTCGAAGCAGGATTGCAAATTCCTG
-1	471953	NM_000044.4(AR):c.2359C>T (p.Arg787Ter)	AR	Feb 13, 2017	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67721873	CACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGAT
267606768	31845	NM_001361.4(DHODH):c.730C>T (p.Arg244Trp)	DHODH	Jan 01, 2010	MedGen:C0265257,OMIM:263750,SNOMED CT:66038001	Miller syndrome	germline	16	72022386	CCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGA
1114167283	244003	NM_203474.1(PORCN):c.268C>T (p.Arg90Ter)	PORCN	Jan 10, 2016	MedGen:C0016395,OMIM:305600,Orphanet:ORPHA2092	Focal dermal hypoplasia	de novo	X	48511426	CTCCTGTGCTACCTCGTGCTGTTCCTCTGCCGACATTCCTCCCATCGAGGCGTCTTCCTAT
121912522	29429	NM_000233.3(LHCGR):c.1715C>T (p.Ala572Val)	LHCGR	Apr 01, 1995	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003	Gonadotropin-independent familial sexual precocity	germline	2	48688082	ATAAAGATACAAAGATTGCTAAGAAAATGGCAATCCTCATCTTCACCGATTTCACCTGCAT
121434440	21881	NM_014236.3(GNPAT):c.631C>T (p.Arg211Cys)	GNPAT	May 01, 1998	MedGen:C1857242,OMIM:222765,Orphanet:ORPHA309796	Rhizomelic chondrodysplasia punctata type 2	germline	1	231265355	CTACGAATGTCGGGTGCCTTTTTCATGCGGCGTACCTTTGGTGGCAATAAACTCTACTGGG
398124637	102584	NM_000146.3(FTL):c.-164C>T	FTL	Feb 19, 2013	MedGen:C1833213,OMIM:600886,Orphanet:ORPHA163	Hyperferritinemia cataract syndrome	germline	19	48965344	TCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGA
114202595	28829	NM_006193.2(PAX4):c.361C>T (p.Arg121Trp)	PAX4	Dec 01, 2001	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006	Diabetes mellitus type 2	germline	7	127614533	TCCCAGGTCTCCTCCATCAACCGAGTCCTGCGGGCATTACAGGAGGACCAGGGACTACCGT
886041192	265093	NM_000397.3(CYBB):c.271C>T (p.Arg91Ter)	CYBB	Sep 30, 2016	MedGen:CN517202	not provided	germline	X	37791993	CTTAATCCAAAGTGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCTCACCTTTC
267606653	20059	NM_021926.3(ALX4):c.793C>T (p.Arg265Ter)	ALX4	Nov 15, 2009	MedGen:C3150703,OMIM:613451,Orphanet:ORPHA228390	Frontonasal dysplasia 2	germline	11	44267607	TTTCGCGTCTTGTAGGTCTGGTTCCAGAACCGAAGGGCCAAGTGGAGGAAGCGGGAGCGTT
587777929	76356	NM_001166284.1(CCT7):c.1313C>T (p.Ser438Leu)	CCT7	Sep 15, 2013	MedGen:C1838021,OMIM:608446	Myocardial infarction 1	inherited	2	73252803	CTGTAGATGAAACCATCAAGAACCCCCGCTCGACTGTGGATGCTCCCACAGCAGCAGGCCG
764396564	200654	NM_138413.3(HOGA1):c.134C>T (p.Pro45Leu)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97584837	TTGCGGGTATCTACCCCCCTGTGACCACCCCCTTCACTGCCACTGCAGAGGTGGACTATGG
747719953	273069	NM_213599.2(ANO5):c.1639C>T (p.Arg547Ter)	ANO5	Jun 20, 2016	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549	Limb-girdle muscular dystrophy, type 2L	germline	11	22262137	ACATTTTTTTTTAACTTAACAGAAATTCCTCGAACATACCAGGAGTATGAGAGCAGTCTTA
-1	433217	NM_000296.3(PKD1):c.2932C>T (p.Gln978Ter)	PKD1	Jan 30, 2017	MedGen:CN169374	not specified	germline	16	2113214	ACCATCAACGACAAGCAGTCCCTGACCTTCCAGAACGTGGTCTTCAATGTCATTTATCAGA
869025345	223782	NM_001145408.1(NONO):c.1093C>T (p.Arg365Ter)	NONO	Jun 08, 2017	MedGen:C4225417,OMIM:300967,Orphanet:ORPHA466791	Mental retardation, X-linked, syndromic 34	germline	X	71297900	ATGCGGCGGCAGCAAGAAGAAATGATGCGGCGACAGCAGGAAGGATTCAAGGGAACCTTCC
191346286	190114	NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter)	NEFL	Nov 01, 2014	MedGen:C1843225,OMIM:607684,Orphanet:ORPHA99939	Charcot-Marie-Tooth disease type 2E	germline	8	24953704	GGCTACTCCCAGAGCTCCCAGGTCTTTGGCCGATCTGCCTACGGCGGTTTACAGACCAGCT
875989899	245525	NM_000527.4(LDLR):c.373C>T (p.Gln125Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105279	CGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCT
587776999	70531	NM_001258221.1(KCTD1):c.92C>T (p.Pro31Leu)	KCTD1	Jan 29, 2014	MedGen:C1867020,OMIM:181270,Orphanet:ORPHA2036	Scalp ear nipple syndrome	germline;inherited	18	26501144	CTCCAGCACAACTCACAAAATCCAATGCGCCTGTCCACATTGATGTGGGCGGCCACATGTA
121918241	16462	NM_015506.2(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC	Aug 04, 2017	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26;MedGen:CN517202	Methylmalonic acidemia with homocystinuria;not provided	germline;unknown	1	45508329	CATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGA
199472730	67784	NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu)	KCNQ1	Oct 27, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2572895	ACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGGCTGAGAAGGACGC
56019914	427074	NM_001171.5(ABCC6):c.345+26C>T	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16219796	CGATGGTAATGATGCCTTCAGTCTGGAGCCCGGCTTCCTCCCAGCTGCTGCTTTGCCTGCC
786202064	184902	NM_007294.3(BRCA1):c.4834C>T (p.Gln1612Ter)	BRCA1	Oct 14, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43071080	GTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATA
771663107	205552	NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter)	DNAH5	Apr 27, 2016	MedGen:C1837618,OMIM:608644;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia, primary, 3;Kartagener syndrome	germline	5	13865675	GAAAAAATTAACAATGAACTCTTAGAATTCCAGAACAGGTAAGAAATTAAATGTTTAGCAT
28929485	32061	NM_004004.5(GJB2):c.50C>T (p.Ser17Phe)	GJB2	May 01, 2002	MedGen:C1835678,OMIM:148210	Keratitis-ichthyosis-deafness syndrome, autosomal dominant	germline	13	20189532	AGACGATCCTGGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATCTGGCTCACCGT
121912882	32418	NM_033150.2(COL2A1):c.2503C>T (p.Arg835Cys)	COL2A1	Jun 22, 2017	MedGen:C1851536,OMIM:132450,Orphanet:ORPHA166011;Human Phenotype Ontology:HP:0000545,MedGen:C0027092,Orphanet:ORPHA98619;MedGen:CN517202	Epiphyseal dysplasia, multiple, with myopia and conductive deafness;Myopia;not provided	germline;unknown	12	47979534	GGAGCCACTGGATTCCCTGGAGCTGCTGGCCGCGTTGGACCCCCAGGCTCCAATGTAAGTG
755549444	191567	NM_014425.4(INVS):c.2509C>T (p.Gln837Ter)	INVS	Jun 06, 2014	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	Infantile nephronophthisis	germline	9	100292766	CACCATCGTACACCAAGAAACAAAGTGACACAAGCCAAGCTCACAGGAGGGCTCTATTCAC
-1	440701	NM_014946.3(SPAST):c.838C>T (p.Gln280Ter)	SPAST	Jun 04, 2015	MedGen:CN517202	not provided	germline	2	32114793	AGTGGTTTATCCATGGTTTCTGGAGTGAAACAGGGATCTGGTCCTGCTCCTACCACTCATA
969786171	451643	NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter)	ALMS1	Apr 10, 2017	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome	germline	2	73450707	CATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAG
786204684	187075	NR_003051.3(RMRP):n.64C>T	RMRP	Dec 15, 2014	MedGen:C0220748,OMIM:250250,Orphanet:ORPHA175,SNOMED CT:7720002	Metaphyseal chondrodysplasia, McKusick type	germline;unknown	9	35657955	CACTGAGGACTCTGTTCCTCCCCTTTCCGCCTAGGGGAAAGTCCCCGGACCTCGGGCAGAG
121913332	191748	NM_000038.5(APC):c.4348C>T (p.Arg1450Ter)	APC	Dec 02, 2016	MeSH:D015179,MedGen:CN236642;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Colorectal Neoplasms;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;somatic	5	112839942	CCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTG
587783680	168859	NM_001197104.1(KMT2A):c.8095C>T (p.Arg2699Ter)	KMT2A	Mar 31, 2014	MedGen:C1854630,OMIM:605130,Orphanet:ORPHA319182	Wiedemann-Steiner syndrome	germline	11	118503987	AGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGG
137852961	19589	NM_153638.3(PANK2):c.790C>T (p.Arg264Trp)	PANK2	Aug 01, 2001	MedGen:C0018523,OMIM:234200,Orphanet:ORPHA157850,SNOMED CT:2992000	Pigmentary pallidal degeneration	germline	20	3908087	TCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGA
-1	444920	NM_000192.3(TBX5):c.668C>T (p.Thr223Met)	TBX5	Oct 30, 2017	MedGen:CN517202	not provided	germline	12	114385563	TTGTTCTCTCTTCCTCTTTCCTTCAGATCACGCAATTAAAGATTGAGAATAATCCCTTTGC
121917903	16747	NM_000124.3(ERCC6):c.229C>T (p.Arg77Ter)	ERCC6	Oct 29, 2015	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322;MedGen:C1833561,OMIM:600630,Orphanet:ORPHA178338	Cockayne syndrome B;UV-sensitive syndrome	germline	10	49532736	AGGAGAGGGCCAGCCCTGCTGCACATCGACCGACATCAGATCCAGGCAGTAGAGCCTAGCG
1060499809	389254	NM_001039141.2(TRIOBP):c.1447C>T (p.Gln483Ter)	TRIOBP	Jun 04, 2016	MedGen:C1853276,OMIM:609823	Deafness, autosomal recessive 28	germline	22	37724003	ACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCA
764776104	259908	NM_017890.4(VPS13B):c.1915C>T (p.Arg639Ter)	VPS13B	Jun 19, 2017	MedGen:CN517202	not provided	germline	8	99147912	GTGGCTCTTCTGGAGGAATATATTCCTACTCGACATACAAGTGTTACTCTCCTCAAATGTA
879255495	247290	NM_007294.3(BRCA1):c.628C>T (p.Gln210Ter)	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43095888	GGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTTTGGATT
781144010	464728	NM_177438.2(DICER1):c.901C>T (p.Gln301Ter)	DICER1	Jul 21, 2017	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	germline	14	95126582	AAAGAAAGAGATTCTACTTTAATTTCGAAACAGGTAAGCATATACCAAGTAGGTATAGTGA
80358920	46632	NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2	Nov 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline;somatic	13	32346841	AATAATTGTTTCCTAGGCACAATAAAAGATCGAAGATTGTTTATGCATCATGTTTCTTTAG
137852522	25032	NM_000425.4(L1CAM):c.3581C>T (p.Ser1194Leu)	L1CAM	Nov 05, 2015	MedGen:C0795953,OMIM:303350,Orphanet:ORPHA2466;MedGen:C0265216,OMIM:307000,Orphanet:ORPHA2182,SNOMED CT:71779008;MedGen:CN517202	Spastic paraplegia 1;X-linked hydrocephalus syndrome;not provided	germline	X	153862856	AGGAGAAGGCCTTTGGCAGCAGCCAGCCATCGCTCAACGGGGACATCAAGCCCCTGGGCAG
730880618	179380	NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)	MYBPC3	Sep 20, 2013	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	11	47350035	GACCCCATTGGCCTCTTCGTGATGCGGCCACAGGATGGCGAGGTGACCGTGGGTGAGTGTG
80338826	29117	NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys)	MYH9	Sep 28, 2017	MedGen:C0398641,OMIM:153650,SNOMED CT:234485006;MedGen:C0403445,OMIM:153640,SNOMED CT:236422008;MedGen:CN073381,Orphanet:ORPHA182050;MedGen:C0340978,OMIM:155100;MedGen:C1854520,OMIM:605249;MedGen:CN517202	Epstein syndrome;Fechtner syndrome;MYH9 related disorders;May-Hegglin anomaly;Sebastian syndrome;not provided	germline	22	36305985	CTGCGCTGCAACGGTGTTCTCGAGGGCATCCGTATCTGCCGCCAGGGCTTCCCCAACAGGG
104893746	29315	NM_198159.2(MITF):c.943C>T (p.Arg315Ter)	MITF	Jun 10, 2016	Human Phenotype Ontology:HP:0000365,MedGen:C0018772;Human Phenotype Ontology:HP:0001100,MedGen:C0423318,OMIM:142500,SNOMED CT:247033008;Human Phenotype Ontology:HP:0002290,MedGen:C0221262;Human Phenotype Ontology:HP:0000399,MedGen:C4021806;MedGen:C1860339,OMIM:193510	Hearing impairment;Heterochromia iridis;Poliosis;Prelingual sensorineural hearing impairment;Waardenburg syndrome type 2A	germline;unknown	3	69956460	CCTTTCCTGTGCTCTTTTCTTGAAGTTGAACGAAGAAGAAGATTTAACATAAATGACCGCA
201943194	273561	NM_001277115.1(DNAH11):c.6727C>T (p.Arg2243Ter)	DNAH11	Jan 24, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C2678473,OMIM:611884	Ciliary dyskinesia;Ciliary dyskinesia, primary, 7	germline;maternal	7	21710596	TATTTTATAGGTCTCTTCTCATCCATTCTACGAGAACAAGCAAATCTTAAGCATGATGGAC
121907962	18943	NM_000520.5(HEXA):c.409C>T (p.Arg137Ter)	HEXA	Apr 27, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Tay-Sachs disease;not provided	germline	15	72355562	CTCCTCTCTGAGACTGTCTGGGGAGCTCTCCGAGGTAACAAATTGGGGCTGATTAAAAGAG
727504329	174783	NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter)	MYBPC3	Jan 26, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47343505	GTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGG
72558199	40287	NM_000392.4(ABCC2):c.3196C>T (p.Arg1066Ter)	ABCC2	Jun 14, 2016	MedGen:C0022350,OMIM:237500,Orphanet:ORPHA234,SNOMED CT:44553005	Dubin-Johnson syndrome	germline	10	99832069	TTGCACAAGCAACTGCTGAACAATATCCTTCGAGCACCTATGAGATTTTTTGACACAACAC
80356881	69893	NM_007294.3(BRCA1):c.4552C>T (p.Gln1518Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43074454	TGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGC
864309503	215003	NM_014941.3(MORC2):c.568C>T (p.Arg190Trp)	MORC2	Apr 17, 2017	MedGen:C4225243,OMIM:616688,Orphanet:ORPHA466768	Charcot-Marie-Tooth disease, axonal, type 2z	germline	22	30941503	GCCTATGCCGCTGTGCTCTATATTGATCCCCGGATGAGGATCTTCATCCATGGGCACAAGG
63750778	95977	NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter)	MSH2	Feb 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I	germline	2	47416362	GCTGCCTTGCTGAATAAGTGTAAAACCCCTCAAGGACAAAGACTTGTTAACCAGTGGATTA
876658541	235788	NM_001042492.2(NF1):c.6772C>T (p.Arg2258Ter)	NF1	Jun 20, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline	17	31338092	GCTCTTGTTGTCTTTGGGTGTATTAGCAAACGAGTGTCTCATGGGCAGATAAAGCAGATAA
797044900	205297	NM_013275.5(ANKRD11):c.7825C>T (p.Gln2609Ter)	ANKRD11	Feb 06, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	16	89268645	TGTGTCCCGCAGACTTGCCTCCTCATGCGGCAGCAGCACGAGGCCGCGGCCCTGAACGCCG
878854411	243884	NM_016239.3(MYO15A):c.4108C>T (p.Arg1370Cys)	MYO15A	Jun 06, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18131308	GCCAAAACCGTCAGGAACGACAACTCCAGCCGCTTTGGGAAGTTTGTGGAAATCTTTCTGG
587782682	152449	NM_004329.2(BMPR1A):c.682C>T (p.Arg228Ter)	BMPR1A	Jul 21, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome	germline	10	86917140	AACCTTTTACTTTTTTCTATAAAGGTTCAGCGAACTATTGCCAAACAGATTCAGATGGTCC
63750483	95148	NM_000249.3(MLH1):c.1192C>T (p.Gln398Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37025790	TCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGC
121908945	21782	NM_006892.3(DNMT3B):c.88C>T (p.Gln30Ter)	DNMT3B	Sep 15, 2002	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	germline	20	32780411	TCGATCCTCGTCAACGGGGCCTGCAGCGACCAGTCCTCCGACTCGCCCCCAATCCTGGAGG
1064794935	414882	NM_004321.7(KIF1A):c.37C>T (p.Arg13Cys)	KIF1A	Mar 27, 2017	MedGen:CN517202	not provided	germline	2	240797716	GGGGCTTCGGTGAAGGTGGCGGTGCGGGTCCGCCCCTTCAATTCCCGGGAAATGAGCCGTG
796052820	203899	NM_001184880.1(PCDH19):c.1855C>T (p.Gln619Ter)	PCDH19	Apr 17, 2017	MedGen:CN517202	not provided	germline	X	100406743	GAGGGCGACCGCGGCTTCTTTGAAATAGACCAGGTCAATGGCGAAGTCAGAACCACCCGCA
1135401765	424631	NM_015335.4(MED13L):c.5173C>T (p.Gln1725Ter)	MED13L	Aug 01, 2017	MedGen:C4225208,OMIM:616789,Orphanet:ORPHA369891	Mental retardation and distinctive facial features with or without cardiac defects	de novo	12	115982386	CCTGAGCATATGAGAAATTCTTTCATTCTCCAGGTTACTGTTTGCAAGTTTATTATTTACT
80359823	201150	NM_006516.2(SLC2A1):c.884C>T (p.Thr295Met)	SLC2A1	Aug 17, 2016	MedGen:CN030711,OMIM:606777;MedGen:CN517202	GLUT1 deficiency syndrome 1;not provided	germline	1	42929298	CTCTTGTCTGGCAGGTCTTCTATTACTCCACGAGCATCTTCGAGAAGGCGGGGGTGCAGCA
-1	451762	NM_003494.3(DYSF):c.5350C>T (p.Gln1784Ter)	DYSF	Mar 01, 2017	MedGen:C2931687,Orphanet:ORPHA207073	Dysferlinopathy	germline	2	71668763	GAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCC
397514657	48717	NM_024531.4(SLC52A2):c.155C>T (p.Ser52Phe)	SLC52A2	Mar 17, 2015	MedGen:C3553538,OMIM:614707;MedGen:CN517202	Brown-Vialetto-Van Laere syndrome 2;not provided	germline	8	144359647	CTGCAGGTTGGAGCCTCCCCTCTTACGTCTCTGTGCTTGTGGCTCTGGGGAACCTGGGTCT
118203606	58021	NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter)	TSC1	Dec 16, 2014	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	9	132905615	CCAATGGAAGTGCTGGACAGACTGATACAGCAGGGAGCAGACGCGCACAGCAAGGAGCTGA
104894044	23917	NM_000193.3(SHH):c.298C>T (p.Gln100Ter)	SHH	Aug 29, 2013	MedGen:C1840529,OMIM:142945	Holoprosencephaly 3	germline	7	155811825	GAAAACACCGGAGCGGACAGGCTGATGACTCAGGTAGGAACCCAGCGCCGGGGCGTGGAAT
104893754	28641	NM_001122757.2(POU1F1):c.592C>T (p.Arg198Ter)	POU1F1	Apr 01, 1992	MedGen:C2751608,OMIM:613038	Pituitary hormone deficiency, combined 1	germline	3	87262161	GGCTCTGAATTCAGTCAAACAACAATCTGCCGATTTGAAAATCTGCAGCTCAGCTTTAAAA
727504020	177367	NM_000255.3(MUT):c.1207C>T (p.Arg403Ter)	MUT	Dec 22, 2014	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49451591	GCTTTGGGTTTGCCAACTGTGAAAAGTGCTCGAATTGCCAGGAACACACAAATCATCATTC
-1	434185	NM_000527.4(LDLR):c.-98C>T	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089451	AGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCA
886040986	262650	NM_017780.3(CHD7):c.3526C>T (p.Gln1176Ter)	CHD7	Sep 05, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60830325	TAGTATTTACTTAAGGTCCTTTTTTAGGTGCAAAAACTTCAAGCTATTCTAAAGCCAATGA
770606675	406969	NM_001458.4(FLNC):c.1948C>T (p.Arg650Ter)	FLNC	Apr 04, 2017	MedGen:CN239310;MedGen:CN517202	Dilated Cardiomyopathy, Dominant;not provided	germline	7	128841304	GTGCACGTCATCTGTGACGATGAGGACATCCGAGACTCACCCTTCATTGCCCACATCCTGC
863225228	214284	NM_153704.5(TMEM67):c.1453C>T (p.Pro485Ser)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93787884	GTACCCAACACAATAAATGGAAACATCTACCCTCCCTTAATCACCATTGCCTACAGTGACA
118204052	15783	NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys)	CC2D2A	Oct 13, 2016	MedGen:C2676788,OMIM:612285;MedGen:CN517202	Joubert syndrome 9;not provided	germline;unknown	4	15599614	CGGTGGAATAGGTATTGTACCTCTACTCTGCGTCACTTCTTGCCTCTGTTAGAAAAAAGTC
45517111	58981	NM_000548.4(TSC2):c.496C>T (p.Gln166Ter)	TSC2	Sep 27, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2055416	GCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAAT
120074137	17949	NM_030962.3(SBF2):c.2875C>T (p.Gln959Ter)	SBF2	May 01, 2003	MedGen:C1858280	Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma	germline	11	9847015	TCCATCACCAAGGAGAAGAAGATTACAATGCAGAACCAGCTACAGCAGAACATGCAAGAAG
80338700	22762	NM_000303.2(PMM2):c.338C>T (p.Pro113Leu)	PMM2	Apr 19, 2016	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002	Carbohydrate-deficient glycoprotein syndrome type I	germline;unknown	16	8806398	GTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGTGGGTTTGCTTTTAACAAAG
148207467	186634	NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter)	ACADM	Jul 20, 2016	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline;unknown	1	75761221	AGAGCAGCTTGGGAGGTTGATTCTGGTCGTCGAAATACCTATTATGCTTCTATTGCAAAGG
863225004	213858	NM_004006.2(DMD):c.5641C>T (p.Gln1881Ter)	DMD	Sep 26, 2013	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32343232	AAGGCTCTAGAAATTTCTCATCAGTGGTATCAGTACAAGAGGCAGGCTGATGATCTCCTGA
111854391	27563	NM_004612.3(TGFBR1):c.722C>T (p.Ser241Leu)	TGFBR1	Sep 01, 2017	MedGen:C2697932,Orphanet:ORPHA60030,SNOMED CT:446263001;MedGen:C2697933,OMIM:609192;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection;not provided	germline	9	99138006	TTAAGATATTCTCCTCTAGAGAAGAACGTTCGTGGTTCCGTGAGGCAGAGATTTATCAAAC
-1	450588	NM_004369.3(COL6A3):c.2620C>T (p.Arg874Ter)	COL6A3	Jul 31, 2017	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	2	237377222	GATGAGCTCAATGTGAAGCCAGAGGGGACCCGAATTGCGGTGGCTCAGTACAGCGATGATG
-1	427541	NM_007294.3(BRCA1):c.4666C>T (p.Gln1556Ter)	BRCA1	Sep 05, 2012	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	17	43074340	GATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTAATATTTCATCTGCTGTAT
121909531	33330	NM_001100.3(ACTA1):c.1000C>T (p.Pro334Ser)	ACTA1	Apr 11, 2013	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007	Congenital myopathy with fiber type disproportion	germline	1	229431633	ACCTCACGCGCTGTCTTGCAGATCATCGCCCCGCCGGAGCGCAAATACTCGGTGTGGATCG
-1	458260	NM_000118.3(ENG):c.808C>T (p.Gln270Ter)	ENG	Jun 14, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004	Osler hemorrhagic telangiectasia syndrome	germline	9	127825239	TCCTGGCTCATCGACGCCAACCACAACATGCAGATCTGGGTGAGTTGTGCGCAGCTCCCGG
387906769	39054	NM_002052.4(GATA4):c.487C>T (p.Pro163Ser)	GATA4	Dec 01, 2010	MedGen:C3280781,OMIM:614430;Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED CT:86299006;MedGen:C3280777,OMIM:614429	Atrioventricular septal defect 4;Tetralogy of Fallot;Ventricular septal defect 1	germline	8	11708799	GGCTTCGCGGGCTCCTACTCCAGCCCCTACCCGGCTTACATGGCCGACGTGGGCGCGTCCT
-1	481663	NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter)	ALMS1	Oct 20, 2017	MedGen:CN517202	not provided	germline	2	73572699	TTGAATGAACTGTGGAACAAGTATCGGGAGCGACAGAGGCAACAGAGACAGCCTGAGTTGG
137852258	25651	NM_000133.3(F9):c.1135C>T (p.Arg379Ter)	F9	Aug 01, 1990	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561820	CTTCAGTACCTTAGAGTTCCACTTGTTGACCGAGCCACATGTCTTCGATCTACAAAGTTCA
121918366	24115	NM_001174125.1(SLC11A2):c.1333C>T (p.Arg445Cys)	SLC11A2	Jan 01, 2006	MedGen:C2673913,OMIM:206100,Orphanet:ORPHA83642	Hypochromic microcytic anemia with iron overload	germline	12	50992291	TGGTCACGCTTTGCCCGAGTGGTTCTGACTCGCTCTATTGCCATCATCCCCACTCTGCTTG
886037707	248840	NM_177438.2(DICER1):c.3658C>T (p.Q1220*)	DICER1	Nov 10, 2014	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	germline	14	95103738	CCCGTGCAACCAACTACCTCATATTCCATTCAGAATTTATACAGTTACGAGAACCAGCCCC
587779058	95932	NM_000249.3(MLH1):c.982C>T (p.Gln328Ter)	MLH1	Oct 15, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37020407	CACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCA
1064793307	409191	NM_130838.1(UBE3A):c.1516C>T (p.Arg506Cys)	UBE3A	Mar 17, 2017	MedGen:CN517202	not provided	germline	15	25370598	TTGAATCCATATTTGAGACTCAAAGTTAGACGTGACCATATCATAGATGATGCACTTGTCC
373715782	98178	NM_000016.5(ACADM):c.616C>T (p.Arg206Cys)	ACADM	Jul 14, 2017	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202;MedGen:CN169374	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided;not specified	germline;unknown	1	75745822	TGTGTATCTCTTAGGTATTTTTTATTGGCACGTTCTGATCCAGATCCTAAAGCTCCTGCTA
397514672	49906	NM_000088.3(COL1A1):c.4160C>T (p.Ala1387Val)	COL1A1	Sep 01, 2011	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	unknown	17	50185866	TGGACCAGCAGACTGGCAACCTCAAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGA
-1	426845	NM_001171.5(ABCC6):c.3790C>T (p.Gln1264Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16157755	GCAGCTCAGCCCCCCTGGCCTCAGGGCGGGCAGATCGAGTTCCGGGACTTTGGGCTAAGAT
-1	427449	NM_001009944.2(PKD1):c.11461C>T (p.Gln3821Ter)	PKD1	Jun 15, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	16	2091857	TGTGCCGTGTATGACAGCGGGGGCTACGTGCAGGAGCTGGGCCTGAGCCTGGAGGAGAGCC
28937580	21742	NM_005450.4(NOG):c.103C>T (p.Pro35Ser)	NOG	Feb 12, 2018	MedGen:C1969652,OMIM:611377,Orphanet:ORPHA140908;Human Phenotype Ontology:HP:0100264,MedGen:C1861385,OMIM:185800,Orphanet:ORPHA3250;MedGen:C1866656,OMIM:184460,Orphanet:ORPHA140917	Brachydactyly type B2;Cushing's symphalangism;Stapes ankylosis with broad thumb and toes	germline	17	56594326	GCCGGCGGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTGGTGG
28936371	24135	NM_000352.4(ABCC8):c.4477C>T (p.Arg1493Trp)	ABCC8	Mar 24, 2014	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline;unknown	11	17394334	CAGGGACAGAGGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACCAGCATCTTCA
1060501695	408232	NM_000051.3(ATM):c.8140C>T (p.Gln2714Ter)	ATM	May 19, 2016	MedGen:CN517202	not provided	germline	11	108335098	TGTGTAGGTTCCGATGGCAAGGAGAGGAGACAGCTTGTTAAGGTGAGCCTTCCCTTCTCTG
74315427	18365	NM_020436.4(SALL4):c.1849C>T (p.Arg617Ter)	SALL4	Jul 01, 2003	MedGen:C1623209,OMIM:607323,Orphanet:ORPHA93293	Duane-radial ray syndrome	germline	20	51790634	GGTAACCTGAAGACACACCTTGGGGTTCACCGAACCAACACATCCATTAAGACGCAGCATT
137853859	34023	NM_000403.3(GALE):c.505C>T (p.Arg169Trp)	GALE	Jun 11, 2014	MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004	UDPglucose-4-epimerase deficiency	germline	1	23797718	AAGTCCAAGTTCTTCATCGAGGAAATGATCCGGGACCTGTGCCAGGCAGACAAGGTGAGGG
398122735	97241	NM_000059.3(BRCA2):c.1945C>T (p.Gln649Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32336300	TTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCT
398123585	99539	NM_001165963.1(SCN1A):c.1837C>T (p.Arg613Ter)	SCN1A	Jun 29, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C1864987,OMIM:609634;MedGen:C1858673,OMIM:604403;MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Familial hemiplegic migraine type 3;Generalized epilepsy with febrile seizures plus, type 2;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;Severe myoclonic epilepsy in infancy;not provided	de novo;germline;unknown	2	166043875	AGCCGTAGAGATTCCTTGTTTGTGCCCCGACGACACGGAGAGAGACGCAACAGCAACCTGA
587783450	168623	NM_017780.3(CHD7):c.6157C>T (p.Arg2053Ter)	CHD7	Dec 30, 2015	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60852882	ATTGAGCCGATCACAGAGGAGCGAGCCTCTCGAACTCTGTACCGCATTGAGCTGCTACGGA
587783568	169875	NM_178151.2(DCX):c.586C>T (p.Arg196Cys)	DCX	Jun 12, 2017	Human Phenotype Ontology:HP:0002282,MedGen:C0008519;MedGen:CN517202	Heterotopia;not provided	germline	X	111401109	CGCAGTGGGGTGAAGCCTCGGAAGGCTGTGCGTGTGCTTCTGAACAAGAAGACAGCCCACT
200203460	185684	NM_030813.5(CLPB):c.1249C>T (p.Arg417Ter)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline;maternal	11	72302312	ATCAGGCTGGACATGTCCGAGTTCCAGGAGCGACACGAGGTGAGTGATGACAGTCCTTGAT
727504175	177295	NM_001083962.1(TCF4):c.748C>T (p.Gln250Ter)	TCF4	Mar 13, 2014	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896	Pitt-Hopkins syndrome	germline	18	55275660	GGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCAC
794729221	198605	NM_006516.2(SLC2A1):c.724C>T (p.Gln242Ter)	SLC2A1	Jul 25, 2014	MedGen:CN030711,OMIM:606777;Human Phenotype Ontology:HP:0001249,MedGen:C1843367	GLUT1 deficiency syndrome 1;Intellectual disability	de novo;unknown	1	42929736	CGCGGGACAGCTGACGTGACCCATGACCTGCAGGAGATGAAGGAAGAGAGTCGGCAGATGA
794729305	198745	NM_001256850.1(TTN):c.96304C>T (p.Arg32102Ter)	TTN	May 16, 2014	MedGen:CN517202	not provided	germline	2	178535388	GCAGAAAGATGGCTCCGTGTAGGACAGGCCCGAGAAACACGTTATACCGTGATCAACTTAT
281874719	36013	NM_000495.4(COL4A5):c.3700C>T (p.Gln1234Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668414	GAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCTCCGG
80338841	26809	NM_001110556.1(FLNA):c.1923C>T (p.Gly641=)	FLNA	May 02, 2013	MedGen:C0262436,OMIM:314400,Orphanet:ORPHA1864;MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Cardiac valvular dysplasia, X-linked;Periventricular nodular heterotopia 1	germline	X	154364625	TGATGTGCGCTACTGGCCGCAGGAGGCTGGCGAGTATGCCGTTCACGTGCTGTGCAACAGC
1057517803	360124	NM_002693.2(POLG):c.823C>T (p.Arg275Ter)	POLG	Jul 20, 2016	MedGen:CN517202	not provided	germline	15	89330113	TTAGTGGTGGGGCACAATGTTTCCTTTGACCGAGCTCATATCAGGGAGCAGTACCTGATCC
876661402	236864	NM_006016.5(CD164):c.574C>T (p.Arg192Ter)	CD164	May 31, 2016	MedGen:C4283893,OMIM:616969	Deafness, autosomal dominant 66	germline	6	109368871	TTTCTTTATAAATTCTGCAAATCTAAAGAACGAAATTACCACACTCTGTAAACAGACCCAT
147105770	70487	NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp)	ERCC4	Jan 19, 2017	MedGen:CN177726	Xeroderma pigmentosum, type f/Cockayne syndrome	germline	16	13935697	GTTCTTTATGACGCAGAGCTAACCTTTGTTCGGCAGCTTGAAATTTACAGGGCGAGTAGGC
587776946	48694	NM_014813.2(LRIG2):c.2125C>T (p.Arg709Ter)	LRIG2	Mar 07, 2013	MedGen:C3554520,OMIM:615112	Urofacial syndrome 2	germline	1	113114471	ATTAGACCCCTGGAGGATAAGACAGTAACACGAGGTGAAACTGCGGTGTTACAGTGCATAG
57448541	77481	NM_005554.3(KRT6A):c.508C>T (p.Leu170Phe)	KRT6A	Feb 03, 2016	MedGen:CN517202	not provided	germline	12	52492681	CGGGCTGAGGAGCGTGAACAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATCGACA
786201367	184776	NM_001042492.2(NF1):c.7909C>T (p.Arg2637Ter)	NF1	Jun 08, 2017	MedGen:C0553586,OMIM:193520,SNOMED CT:403820003;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C1834235,OMIM:162210;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:C2931482,OMIM:601321,Orphanet:ORPHA638	Café-au-lait macules with pulmonary stenosis;Hereditary cancer-predisposing syndrome;Juvenile myelomonocytic leukemia;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome	germline;unknown	17	31357308	GTAAAATATACCACAGATGAGTTTGATCAACGAATTCTTTATGAATACTTAGCAGAGGCCA
80338829	29113	NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys)	MYH9	Apr 05, 2011	MedGen:CN073381,Orphanet:ORPHA182050;MedGen:C1854520,OMIM:605249	MYH9 related disorders;Sebastian syndrome	germline	22	36295069	TCTGAGGGGATTTCTCTGTCCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGA
137854587	25961	NM_000397.3(CYBB):c.625C>T (p.His209Tyr)	CYBB	Jun 01, 1991	MedGen:C1844376,OMIM:306400;MedGen:CN517202	Chronic granulomatous disease, X-linked;not provided	germline	X	37796092	AGGTCTTACTTTGAAGTCTTTTGGTACACACATCATCTCTTTGTGATCTTCTTCATTGGCC
387906912	39441	NM_022436.2(ABCG5):c.46C>T (p.Gln16Ter)	ABCG5	Nov 15, 2010	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43838634	TCTTTGACCCCCGGAGGGTCCATGGGTCTCCAAGTAAACAGAGGCTCCCAGAGCTCCCTGG
397516061	51944	NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter)	MYBPC3	May 23, 2017	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47349815	AAATGGGTGGACCTGAGCAGCAAGGTGGGCCAGCACCTGCAGCTGCACGACAGCTACGACC
587780462	135785	NM_018344.5(SLC29A3):c.1228C>T (p.Gln410Ter)	SLC29A3	Feb 03, 2014	MedGen:C1864445,OMIM:602782,Orphanet:ORPHA168569	Histiocytosis-lymphadenopathy plus syndrome	germline	10	71362408	CCCCGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCT
121434347	17059	NM_001003841.2(SLC6A19):c.718C>T (p.Arg240Ter)	SLC6A19	Sep 01, 2004	MedGen:C0018609,OMIM:234500,Orphanet:ORPHA2116,SNOMED CT:80902009	Neutral 1 amino acid transport defect	germline	5	1213517	CCCTATGTCGTCCTGACCATCTTCCTCATCCGAGGCCTGACGCTGAAGGGCGCCACCAATG
137853580	29854	NM_001558.3(IL10RA):c.251C>T (p.Thr84Ile)	IL10RA	Nov 19, 2009	MedGen:C4016214	Inflammatory bowel disease 28	germline	11	117989504	ACTGTAGCCAGACCCTGTCCTATGACCTTACCGCAGTGACCTTGGACCTGTACCACAGCAA
727505284	173115	NM_001256850.1(TTN):c.75793C>T (p.Arg25265Ter)	TTN	May 11, 2016	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	2	178565416	GATCTTAAAATAGAAATTCCAGTTATAGGCCGACCAAGACCTAACATTTCTTGGGTCAAAG
61753965	153173	NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter)	MECP2	May 06, 2014	MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:CN517202	Mental retardation, X-linked, syndromic 13;Rett syndrome;not provided	de novo;germline;maternal;unknown	X	154030612	TCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGG
104894330	32872	NM_000486.5(AQP2):c.377C>T (p.Thr126Met)	AQP2	Feb 01, 1997	MedGen:C4015884	Diabetes insipidus, nephrogenic, autosomal recessive	germline	12	49954171	TTCTCTGTCCCCAGCTCAGCAACAGCACGACGGCTGGCCAGGCGGTGACTGTGGAGCTCTT
104894894	25997	NM_000475.4(NR0B1):c.1183C>T (p.Gln395Ter)	NR0B1	Jul 20, 2016	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004;MedGen:CN517202	Congenital adrenal hypoplasia, X-linked;not provided	germline	X	30304809	ATTTTTCTCCCTCCAGACGTGCCGGGCCTGCAGTGCGTGAAGTACATTCAGGGACTCCAGT
35916840	76505	NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	TTPA	Sep 08, 2017	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96;MedGen:CN517202	Ataxia with vitamin E deficiency;not provided	germline	8	63064208	AAACCATTCCTGACTGAAAAAATTAAGGAACGGGTGAGTAAAATATATTCAAGTCTGTGTT
557344672	425028	NM_000527.4(LDLR):c.542C>T (p.Pro181Leu)	LDLR	Mar 01, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105448	CCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCA
11554273	30972	NM_000516.5(GNAS):c.601C>T (p.Arg201Cys)	GNAS	Sep 26, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;MeSH:D015179,MedGen:CN236642;MedGen:C1857451,OMIM:219080;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0242292,OMIM:174800,Orphanet:ORPHA562;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN495005,OMIM:617686;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MedGen:C0206724;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of lung;Adenocarcinoma of stomach;Adrenocortical carcinoma;Colorectal Neoplasms;Cushing's syndrome;Hepatocellular carcinoma;Malignant melanoma of skin;McCune-Albright syndrome;Neoplasm;Neoplasm of the breast;PITUITARY ADENOMA 3, MULTIPLE TYPES;Pancreatic adenocarcinoma;Sex cord-stromal tumor;Squamous cell carcinoma of the head and neck;Uterine cervical neoplasms	germline;somatic	20	58909365	TCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCA
148918985	98284	NM_000050.4(ASS1):c.793C>T (p.Arg265Cys)	ASS1	Jan 18, 2013	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130480404	TCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTG
80358362	102238	NM_015384.4(NIPBL):c.5440C>T (p.Arg1814Ter)	NIPBL	Aug 27, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37022256	CTCTTCATTTTTCTTTAGCTTGATATGCAACGAGGTGTTCATGGACGATTGATGGATAATT
886039407	260289	NM_000425.4(L1CAM):c.1453C>T (p.Arg485Ter)	L1CAM	May 16, 2016	MedGen:CN517202	not provided	germline	X	153868654	TTCCCCTATGCCAATGGGACCCTGGGCATTCGAGACCTCCAGGCCAATGACACCGGACGCT
398123300	98677	NM_000284.3(PDHA1):c.483C>T (p.Tyr161=)	PDHA1	Oct 15, 2015	MedGen:CN517202	not provided	germline	X	19353146	ATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTA
63751194	38609	NM_000249.3(MLH1):c.793C>T (p.Arg265Cys)	MLH1	Jun 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;not provided	germline;unknown	3	37017508	AACTGGTTGCTTTCTTTTTATTGTTTAGATCGTCTGGTAGAATCAACTTCCTTGAGAAAAG
121434262	18307	NM_024529.4(CDC73):c.25C>T (p.Arg9Ter)	CDC73	Dec 01, 2002	MedGen:C1704981,OMIM:145001,Orphanet:ORPHA99880	Hyperparathyroidism 2	germline	1	193122225	GGGAAGATGGCGGACGTGCTTAGCGTCCTGCGACAGTACAACATCCAGAAGAAGGAGATTG
587782798	152602	NM_004360.4(CDH1):c.1147C>T (p.Gln383Ter)	CDH1	Jun 27, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68813322	ACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAA
764079291	402141	NM_000267.3(NF1):c.1246C>T (p.Arg416Ter)	NF1	Jul 13, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31201471	TTTCACTATGTGCTGGTAAATTCACTCCATCGAATCATCACCAATGTAAGTCCAAAAGGTA
774903187	396285	NM_001277115.1(DNAH11):c.13075C>T (p.Arg4359Ter)	DNAH11	Sep 13, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21899361	ACCAGGTTCAATGACCTCCTCCTGCGATGCCGAGAACTCGATACTTGGACACAAGACCTTA
-1	481680	NM_020166.4(MCCC1):c.1225C>T (p.Arg409Ter)	MCCC1	Sep 05, 2017	MedGen:CN517202	not provided	germline	3	183041609	GCAGGCCCATTAGTGCACCTCTCTACTCCTCGAGCAGACCCTTCCACCAGGATTGAAACTG
1057516101	354004	NM_172107.3(KCNQ2):c.926C>T (p.Ala309Val)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63439599	TCATCGGTGTCTCCTTCTTCGCGCTGCCTGCAGTAAGTCCAGCTGCCCCTGCCTGCCTTGG
-1	444035	NM_005045.3(RELN):c.1594C>T (p.Gln532Ter)	RELN	Sep 18, 2017	MedGen:CN517202	not provided	germline	7	103652720	TTGGTTTCTGTGGTCATCAATCCTGAACTTCAGACTCCTGCTACCAAATTTTGTCTCAGGC
61752137	24183	NM_001131025.1(PEX5):c.1279C>T (p.Arg427Ter)	PEX5	Jul 01, 2015	MedGen:C1859228,OMIM:214110;MedGen:CN517202	Peroxisome biogenesis disorder 2a (zellweger);not provided	germline	12	7208554	TCCCTGCAGCGACAGGCCTGTGAAACCCTACGAGACTGGCTGCGGTACACACCAGCCTATG
119470016	18999	NM_000356.3(TCOF1):c.754C>T (p.Gln252Ter)	TCOF1	Mar 01, 1997	MedGen:CN119605,OMIM:154500	Treacher Collins syndrome 1	germline	5	150374288	CCCCCTGGGAAGGCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAGGACT
28933389	28257	NM_000055.2(BCHE):c.812C>T (p.Thr271Met)	BCHE	Oct 01, 1992	MedGen:C4017550	Butyrylcholinesterase deficiency, fluoride 1	germline	3	165830222	TAACATCTCTTTATGAAGCTAGGAACAGAACGTTGAACTTAGCTAAATTGACTGGTTGCTC
121908959	21715	NM_003494.3(DYSF):c.5713C>T (p.Arg1905Ter)	DYSF	Oct 04, 2017	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:C1847532,OMIM:606768,Orphanet:ORPHA178400;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;Myopathy, distal, with anterior tibial onset;not provided	germline	2	71674242	CTGGACAAGACTGAGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACA
111033182	52440	NM_000260.3(MYO7A):c.5101C>T (p.Arg1701Ter)	MYO7A	Dec 23, 2010	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77202357	AGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGC
372659908	214235	NM_001134831.1(AHI1):c.2212C>T (p.Arg738Ter)	AHI1	Jun 08, 2015	MedGen:C1837713,OMIM:608629;MedGen:CN517202	Joubert syndrome 3;not provided	germline;unknown	6	135433081	GAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATCA
80358659	66267	NM_000059.3(BRCA2):c.4111C>T (p.Gln1371Ter)	BRCA2	Sep 24, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32338466	CAGCACAACATATGTCTTAAATTATCTGGCCAGTTTATGAAGGAGGGAAACACTCAGATTA
121908890	21461	NM_003060.3(SLC22A5):c.505C>T (p.Arg169Trp)	SLC22A5	Jul 18, 2016	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline;unknown	5	132384154	TGTCACTCTCCTTTTCTTCCCAGGTTTGGCCGGAAGAATGTGCTGTTCGTGACCATGGGCA
746118995	228192	NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys)	LDLR	Jun 08, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841;MedGen:CN517202	Familial hypercholesterolemia;Familial hypercholesterolemias;not provided	germline;unknown	19	11120143	ATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGG
797044970	204599	NM_004700.3(KCNQ4):c.872C>T (p.Pro291Leu)	KCNQ4	Aug 20, 2015	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	germline	1	40819912	TGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGC
104894663	22674	NM_013435.2(RAX):c.439C>T (p.Gln147Ter)	RAX	Feb 01, 2004	MedGen:C1970237,OMIM:611038	Microphthalmia, isolated 3	germline	18	59272465	CGGCGGAACCGCACGACTTTCACCACGTACCAGCTGCATGAGCTGGAGCGCGCGTTCGAGA
753287764	481727	NM_024577.3(SH3TC2):c.2128C>T (p.Gln710Ter)	SH3TC2	Dec 07, 2017	MedGen:CN517202	not provided	germline	5	149027604	AGTGCCCAAGGGATGTCTCTTCCTATTTGGCAGGTCCACCTTGTCCTCCAGAACACAACCA
886043924	272748	NM_001256850.1(TTN):c.100831C>T (p.Arg33611Ter)	TTN	Dec 08, 2016	MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609;MedGen:C1861065,OMIM:613765;MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464;MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922;MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377;MedGen:CN517202	Distal myopathy Markesbery-Griggs type;Familial hypertrophic cardiomyopathy 9;Hereditary myopathy with early respiratory failure;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided	germline	2	178530861	AAATCCCCAGAAGCAGTTAAGTCTCCAAAACGAGTGAAATCTCCAGAACCTTCTCACCCGA
794729261	199314	NM_001256850.1(TTN):c.42556C>T (p.Gln14186Ter)	TTN	Mar 01, 2017	MedGen:CN517202	not provided	germline	2	178617872	TCTGCAACTGTTACTGATGTGGTAGAAGGACAGGAGTACAGTTTCCGAGTGAGAGCCCAAA
116840786	23326	NM_033337.2(CAV3):c.86C>T (p.Pro29Leu)	CAV3	Apr 15, 2012	Human Phenotype Ontology:HP:0003236,MedGen:C0241005,OMIM:123320;MedGen:CN517202	Creatine phosphokinase, elevated serum;not provided	germline	3	8733962	GCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGT
72552291	15825	NM_015141.3(GPD1L):c.839C>T (p.Ala280Val)	GPD1L	Aug 17, 2017	MedGen:C2673193,OMIM:611777;MedGen:CN230736;Human Phenotype Ontology:HP:0001522,MedGen:C1844947;MedGen:CN517202	Brugada syndrome 2;Cardiovascular phenotype;Death in infancy;not provided	germline;unknown	3	32159096	GGCGGAACCGCAGGGTGGCCGAGGCCTTCGCCAGAACTGGGAAGGTAGCCCCTCACCTGCT
121918716	27522	NM_000359.2(TGM1):c.424C>T (p.Arg142Cys)	TGM1	Sep 01, 1997	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24261779	GACGAGTATGAGTACGACGAGCTGATAGTGCGCCGCGGGCAGCCTTTCCATATGCTCCTCC
796053367	202311	NM_003165.3(STXBP1):c.1216C>T (p.Arg406Cys)	STXBP1	Nov 16, 2016	Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Epileptic encephalopathy;not provided	de novo;germline	9	127675909	GATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGA
104894294	23093	NM_005055.4(RAPSN):c.490C>T (p.Arg164Cys)	RAPSN	May 05, 2015	MedGen:C4225367,OMIM:616326;Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Myopathy	germline;unknown	11	47447853	CACAACAATGATGACGCCATGCTCGAGTGCCGCGTGTGCTGCAGCCTGGGCAGCTTCTATG
121918521	25840	NM_005765.2(ATP6AP2):c.321C>T (p.Asp107=)	ATP6AP2	Apr 15, 2005	MedGen:C1845543,OMIM:300423,Orphanet:ORPHA93952	Mental retardation, X-linked, syndromic, Hedera type	germline	X	40597269	TAAATTTCAGGCAGTTCCTTTTAGTCTTGACAGTGTTGCAAATTCCATTCACTCCTTATTT
312262825	49534	NM_003611.2(OFD1):c.337C>T (p.Gln113Ter)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13738870	CTTAAGGTATTTACTATGCAGGATCTATTACAACTCATTAAAATCAACCCTACTTCCAGTC
137852970	19576	NM_032667.6(BSCL2):c.412C>T (p.Arg138Ter)	BSCL2	Dec 08, 2016	MedGen:C1720863,OMIM:269700	Congenital generalized lipodystrophy type 2	germline	11	62694594	GTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTCGGTAA
-1	445739	NM_000267.3(NF1):c.3376C>T (p.Gln1126Ter)	NF1	Sep 06, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31232761	GACTGCAGTGAAGTTGAAGATGAAAGTGCGCAAACAGGTGGCAGGAAACGTGGCATGTCTC
104893981	17496	NM_000434.3(NEU1):c.893C>T (p.Ala298Val)	NEU1	Jun 14, 2016	MedGen:C0268226,OMIM:256550	Sialidosis, type II	germline	6	31860170	ACTGCCGAATTGTCCTCCGCAGCTATGATGCCTGTGATACACTAAGGCCCCGTGATGTGAC
587777071	94431	NM_032229.2(SLITRK6):c.541C>T (p.Arg181Ter)	SLITRK6	Nov 24, 2014	MedGen:C1857342,OMIM:221200	Deafness and myopia	germline	13	85795968	GCTATTGAGAGTCTTCCTCCAAACATCTTCCGATTTGTTCCTTTAACCCATCTAGATCTTC
886041831	264848	NM_004247.3(EFTUD2):c.1669C>T (p.Gln557Ter)	EFTUD2	Jun 27, 2016	MedGen:CN517202	not provided	germline	17	44860482	GGCAACTGGGTTCTGATTGAAGGTGTTGATCAACCAATTGTGAAGACAGCAACCATAACCG
121908910	21395	NM_002977.3(SCN9A):c.2986C>T (p.Arg996Cys)	SCN9A	Mar 09, 2017	MedGen:C2751777,OMIM:613863;MedGen:C2752089,OMIM:201300;MedGen:C1833661,OMIM:167400,Orphanet:ORPHA46348	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder	germline	2	166272731	AAGGGAATAAATTATGTGAAACAAACCTTACGTGAATTTATTCTAAAAGCATTTTCCAAAA
886040480	261191	NM_000059.3(BRCA2):c.3523C>T (p.Gln1175Ter)	BRCA2	May 16, 2017	MedGen:C2675520,OMIM:612555;MedGen:CN517202	Breast-ovarian cancer, familial 2;not provided	germline	13	32337878	CATGTCATAATGAATGCCCCATCGATTGGTCAGGTAGACAGCAGCAAGCAATTTGAAGGTA
-1	457761	NM_172218.2(SPAG1):c.1156C>T (p.Gln386Ter)	SPAG1	Apr 02, 2017	MedGen:C3809706,OMIM:615505	Ciliary dyskinesia, primary, 28	germline	8	100213149	GCCGCCCAGCCGTGCGTCATGGGCAACATCCAGAAGAAGCTGACTGGCAAAGCCGAAGGCG
180177279	200564	NM_000030.2(AGXT):c.844C>T (p.Gln282Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240876002	CTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAG
104894102	33303	NM_000476.2(AK1):c.319C>T (p.Arg107Ter)	AK1	Apr 01, 1999	MedGen:C2675459,OMIM:612631,Orphanet:ORPHA86817	Adenylate kinase deficiency, hemolytic anemia due to	germline	9	127871828	CGGGAGGTGCAGCAAGGAGAAGAGTTTGAGCGACGGGTAAGGCACTGACCCAAGTGGGGAT
-1	481174	NM_000660.6(TGFB1):c.328C>T (p.Arg110Cys)	TGFB1	Jan 01, 2017	Human Phenotype Ontology:HP:0001298,MedGen:C1963101;MedGen:CN201623,Orphanet:ORPHA238569	Encephalopathy;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	germline	19	41352717	GAGGCCGACTACTACGCCAAGGAGGTCACCCGCGTGCTAATGGTGGAAACCCACAACGGTG
886041738	264255	NM_005654.5(NR2F1):c.424C>T (p.Arg142Cys)	NR2F1	May 02, 2016	MedGen:CN517202	not provided	germline	5	93585447	CAGCACCACCGCAACCAGTGCCAATACTGCCGCCTCAAGAAGTGCCTCAAAGTGGGCATGA
746315830	259743	NM_003494.3(DYSF):c.331C>T (p.Gln111Ter)	DYSF	Nov 04, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:C1847532,OMIM:606768,Orphanet:ORPHA178400;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;Myopathy, distal, with anterior tibial onset;not provided	germline	2	71503308	TTCAATGCCCCCCTGCTGGACACCAAGAAGCAGCCCACAGGGGTAAGTGCCCATCAGCCTC
121434244	18376	NM_000348.3(SRD5A2):c.736C>T (p.Arg246Trp)	SRD5A2	May 01, 1996	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31526225	CTCAAGATGTTTGAGGACTACCCCAAATCTCGGAAAGCCCTTATTCCATTCATCTTTTAAA
121907900	18526	NM_024426.4(WT1):c.1384C>T (p.Arg462Trp)	WT1	Jul 06, 2017	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002;MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009;MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009;MedGen:C0950122,OMIM:136680,Orphanet:ORPHA347,SNOMED CT:445431000;MedGen:C1837026,OMIM:608978,Orphanet:ORPHA3097;MedGen:CN033288,OMIM:194070;MedGen:CN517202	Diffuse mesangial sclerosis;Drash syndrome;Drash syndrome;Frasier syndrome;Meacham syndrome;Wilms tumor 1;not provided	germline	11	32392020	CAGTGTAAAACTTGTCAGCGAAAGTTCTCCCGGTCCGACCACCTGAAGACCCACACCAGGA
121434508	15449	NM_032273.3(TMEM126A):c.163C>T (p.Arg55Ter)	TMEM126A	Jan 01, 2012	MedGen:C2751812,OMIM:612989,Orphanet:ORPHA227976	Optic atrophy 7	germline	11	85654139	CTTTGTGGCCTCATAGCAAACAGTCTTTTTCGACGCATCTTGAATGTGACAAAGGCTCGCA
879253888	244362	NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp)	KIF1A	Oct 04, 2017	MedGen:CN517202	not provided	germline	2	240783777	ATCAGCCTGGTGGACCTGGCTGGGAGCGAGCGGGCTGACTCCACGGGAGCCAAGGGCACGC
-1	482111	NM_013275.5(ANKRD11):c.4087C>T (p.Arg1363Ter)	ANKRD11	Dec 04, 2017	MedGen:CN517202	not provided	germline	16	89282455	TCCTCATCTTCATCCAAGAAGAGCCACGACCGAGAGCGAGCCAAGAAAGAGAAGGCCGAGA
757548934	487063	NM_172250.2(MMAA):c.742C>T (p.Gln248Ter)	MMAA	Dec 30, 2016	Human Phenotype Ontology:HP:0002912,MedGen:C0268583,SNOMED CT:42393006	Methylmalonic acidemia	germline	4	145651070	TAGTTGTGATTTACAATTTCAGGTGTGGGTCAGTCGGAGTTTGCTGTTGCTGACATGGTTG
587779318	95030	NM_000179.2(MSH6):c.694C>T (p.Gln232Ter)	MSH6	Jun 09, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	2	47798677	GATAATGAAATTGAGAGTGAAGAGGAAGTACAGCCTAAGACACAAGGATCTAGGCGAAGTA
-1	431407	NM_012478.3(WBP2):c.671C>T (p.Ala224Val)	WBP2	Aug 24, 2017	MedGen:CN417138,OMIM:617639	DEAFNESS, AUTOSOMAL RECESSIVE 107	germline	17	75846969	TGTTTGCTCTCACAGCCGAAGCCAAGGCCGCAGAAGCAGCCGCCAGCGCCTATTACAACCC
104894414	20582	NM_001110219.2(GJB6):c.14C>T (p.Thr5Met)	GJB6	Dec 22, 2016	MedGen:C2675237,OMIM:612643	Deafness, autosomal dominant 3b	germline	13	20223467	AGGGATAAACCAGCGCAATGGATTGGGGGACGCTGCACACTTTCATCGGGGGTGTCAACAA
730880257	178798	NM_005886.2(KATNB1):c.1604C>T (p.Ser535Leu)	KATNB1	Feb 05, 2015	MedGen:C4015525,OMIM:616212	Lissencephaly 6, with microcephaly	germline	16	57755878	TGGACTCCGCTGTGGCCATCAACGACCTGTCGGTGGTGGTGGACCTCCTGAACATCGTCAA
1057519725	362841	NM_004985.4(KRAS):c.437C>T (p.Ala146Val)	KRAS	Mar 10, 2016	MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007	Colorectal Neoplasms;Neoplasm of the thyroid gland;Non-small cell lung cancer	somatic	12	25225627	GTTATGGAATTCCTTTTATTGAAACATCAGCAAAGACAAGACAGGTAAGTAACACTGAAAT
1060503386	395450	NM_006772.2(SYNGAP1):c.1861C>T (p.Arg621Ter)	SYNGAP1	Nov 27, 2016	MedGen:C2675473,OMIM:612621	Mental retardation, autosomal dominant 5	germline	6	33440913	ATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCC
757577162	430497	NM_006031.5(PCNT):c.5992C>T (p.Gln1998Ter)	PCNT	Aug 30, 2016	MedGen:C0432246,OMIM:210720,Orphanet:ORPHA2637	Microcephalic osteodysplastic primordial dwarfism type 2	germline	21	46412065	GCTGCTTTGGAGCCGGTTGTCCCTGACCCACAGGTGGGCTCCCCCCGCGGGCCATGGCAGG
863225366	214666	NM_000038.5(APC):c.541C>T (p.Gln181Ter)	APC	Oct 12, 2016	MedGen:CN517202	not provided	germline;unknown	5	112780799	TTTTATTATTTGTGGTTTTAGTTTTCCTTACAAACAGATATGACCAGAAGGCAATTGGAAT
397515992	51839	NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	MYBPC3	Jun 15, 2017	MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47335042	ACGGAGCCGGTGACAGTGCAGGAGATCCTGCGTGAGTGCCCCTTTGTGCAGTCACAAGACC
-1	440709	NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu)	SPAST	Jun 10, 2014	MedGen:CN517202	not provided	germline	2	32128430	TTTTAAAGGCTAAAGCAGTAGCTGCAGAATCGAATGCAACCTTCTTTAATATAAGTGCTGC
121912501	29499	NM_002310.5(LIFR):c.1789C>T (p.Arg597Ter)	LIFR	Feb 01, 2004	MedGen:C0796176,OMIM:601559,Orphanet:ORPHA3206	Stuve-Wiedemann syndrome	germline	5	38496478	ATCCCTGATCCTCAGCACAAAGCAGAGATACGACTTGATAAGAATGACTACATCATCAGCG
761820222	259631	NM_020699.3(GATAD2B):c.1432C>T (p.Arg478Ter)	GATAD2B	Sep 29, 2017	MedGen:C3554448,OMIM:615074,Orphanet:ORPHA363686;MedGen:CN517202	Mental retardation, autosomal dominant 18;not provided	de novo;germline	1	153812120	TGTGATGACTCCCAACAGGAAATTGAACAGCGATTACAGCAGCAGGCAGCCCTCTCCCCCA
398123981	100558	NM_004006.2(DMD):c.5287C>T (p.Arg1763Ter)	DMD	Jan 22, 2014	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32362826	GTAGAGCCCCAAATCTCAGAGCTCAACCATCGATTTGCAGCCATTTCACACAGAATTAAGA
111033590	20205	NM_001184985.1(WNK1):c.3046C>T (p.Gln1016Ter)	WNK1	Nov 23, 2010	MedGen:C2752089,OMIM:201300	Hereditary sensory and autonomic neuropathy type IIA	germline	12	868772	CCTCAATCAGTTGGATTACATGGCTACTTGCAGCCTGTGACTGAAGAAAAGCATAATTACC
869025619	224895	NM_000551.3(VHL):c.217C>T (p.Gln73Ter)	VHL	Feb 26, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10142064	CTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCG
1064794019	406763	NM_001130105.1(COL4A3BP):c.779C>T (p.Ser260Leu)	COL4A3BP	Sep 20, 2017	MedGen:CN517202	not provided	germline	5	75426432	GATCTGAATCCAGCTTGCGTCGACATGGCTCAATGGTGTCCCTGGTGTCTGGAGCAAGTGG
397514749	75333	NM_006946.3(SPTBN2):c.1438C>T (p.Arg480Trp)	SPTBN2	Oct 01, 2013	MedGen:C0752123,OMIM:600224,Orphanet:ORPHA98766	Spinocerebellar ataxia 5	germline	11	66707731	ATTGAGACGGACATCGTGGCCTACAGCGGCCGGGTGCAGGCAGTGGACGCCGTGGCTGCAG
121908156	19704	NM_001033855.2(DCLRE1C):c.241C>T (p.Arg81Ter)	DCLRE1C	Oct 06, 2016	MedGen:C1865370,OMIM:602450;MedGen:CN517202	Severe combined immunodeficiency with sensitivity to ionizing radiation;not provided	germline	10	14945110	ACGAGCCCGAAATACAGATTTTGGAAGAAACGAATTGTAAGTTTTATTTTTTTAATAACTT
121918064	15113	NM_000374.4(UROD):c.583C>T (p.Leu195Phe)	UROD	Nov 01, 1998	MedGen:C0268323,OMIM:176100,SNOMED CT:59229005	Familial porphyria cutanea tarda	germline	1	45014017	CCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAG
587783440	168609	NM_017780.3(CHD7):c.4318C>T (p.Gln1440Ter)	CHD7	Feb 08, 2013	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60837800	TTGAAACTGGGCCTGGATAAAGCTGTGCTACAGTCTATGAGTGGAAGAGAAAATGCTACCA
113994141	34073	NM_000920.3(PC):c.184C>T (p.Arg62Cys)	PC	Jul 21, 2011	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001	Pyruvate carboxylase deficiency	not provided	11	66871824	GTGTTCCGGGCCTGCACGGAGCTGGGCATCCGCACCGTAGCCATCTACTCTGAGCAGGACA
267607199	15882	NM_153033.4(KCTD7):c.295C>T (p.Arg99Ter)	KCTD7	Jun 01, 2007	MedGen:C2673257,OMIM:611726,Orphanet:ORPHA263516	Epilepsy, progressive myoclonic 3	germline	7	66633425	ACGGACTCCGAGGGCCGGTACTTCATCGACCGAGATGGCACACACTTTGGGTATGTCTCTC
57318642	29526	NM_170707.3(LMNA):c.1579C>T (p.Arg527Cys)	LMNA	Nov 16, 2015	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004;MedGen:C0432291,OMIM:248370,Orphanet:ORPHA2457,SNOMED CT:109419009;MedGen:CN517202	Charcot-Marie-Tooth disease;Hutchinson-Gilford syndrome;Mandibuloacral dysostosis;not provided	germline	1	156137203	CAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAG
-1	453972	NM_000038.5(APC):c.3880C>T (p.Gln1294Ter)	APC	Mar 23, 2017	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112839474	GAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAA
-1	434870	NM_024417.4(FDXR):c.1255C>T (p.Gln419Ter)	FDXR	Oct 12, 2017	MedGen:CN533577,OMIM:617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	germline	17	74863166	ACAACCATGACTGACAGCTTCCTCACCGGCCAGATGCTGCTGCAGGACCTGAAGGCTGGGT
768448663	264151	NM_139248.2(LIPH):c.328C>T (p.Arg110Ter)	LIPH	Apr 29, 2016	MedGen:CN517202	not provided	germline	3	185534854	GACATGAACGTAGTTGTTGTTGATTGGAATCGAGGAGCTACAACTTTAATATATACCCATG
-1	486830	NC_000016.9:g.78078728C>T	-	Jun 25, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	16	78078728	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
121434296	18567	NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys)	MTHFR	Jun 01, 2007	MedGen:CN068661	Homocystinuria due to MTHFR deficiency	germline	1	11794766	TGGGCCTCCAGACCAAAGAGTTACATCTACCGTACCCAGGAGTGGGACGAGTTCCCTAACG
55861249	18064	NM_000051.3(ATM):c.103C>T (p.Arg35Ter)	ATM	Jun 29, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Ataxia-telangiectasia syndrome;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108227806	AAAGAAGTTGAGAAATTTAAGCGCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATC
137852393	25215	NM_000132.3(F8):c.493C>T (p.Pro165Ser)	F8	Dec 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154993044	TATGTCTGGCAGGTCCTGAAAGAGAATGGTCCAATGGCCTCTGACCCACTGTGCCTTACCT
28929484	16795	NM_000251.2(MSH2):c.1915C>T (p.His639Tyr)	MSH2	Apr 28, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I;not provided	germline;unknown	2	47475180	CAAGGAAGAATTATATTAAAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTG
587780104	133350	NM_002878.3(RAD51D):c.694C>T (p.Arg232Ter)	RAD51D	Jul 11, 2017	MedGen:C3280345,OMIM:614291;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 4;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	35103298	GCAGGCTTGGCCTTGATGATGCAGCTGGCCCGAGAGCTGAAGACCCTGGCCCGGGACCTTG
121918125	29065	NM_001059.2(TACR3):c.1057C>T (p.Pro353Ser)	TACR3	Mar 01, 2009	MedGen:C3553844,OMIM:614840;MedGen:CN517202	Hypogonadotropic hypogonadism 11 with or without anosmia;not provided	germline	4	103591515	TGGCTGGCAATGAGCTCAACCATGTACAATCCCATCATCTACTGCTGTCTGAATAAAAGGT
80357229	69904	NM_007294.3(BRCA1):c.4609C>T (p.Gln1537Ter)	BRCA1	Nov 07, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43074397	GAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATT
387907136	40151	NM_177965.3(C8orf37):c.529C>T (p.Arg177Trp)	C8orf37	Mar 28, 2017	MedGen:CN241836,OMIM:617406;MedGen:C3281045,OMIM:614500	Bardet-Biedl syndrome 21;Cone-rod dystrophy 16	not provided	8	95247712	AAAGCAAAGTTGATAAAGAAGAAAGGAACACGGGCATATGCCTGCCAGTGTAGCTGGAGAA
151306376	426451	NM_000444.5(PHEX):c.397C>T (p.Gln133Ter)	PHEX	Jun 14, 2017	MedGen:CN517202	not provided	germline	X	22076435	ATCAGTAGAAGGCGGGACACCGAAGCCATACAGAAAGCCAAAATCCTTTATTCATCCTGCA
199588440	49708	NM_025137.3(SPG11):c.1951C>T (p.Arg651Ter)	SPG11	Mar 27, 2016	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	germline	15	44628785	AACATTTTGACTAGCTACATTAATGAACTTCGAACCTTCATGATAAAGTTTCCTTGGAAGC
879255582	205710	NM_001830.3(CLCN4):c.1601C>T (p.Ser534Leu)	CLCN4	Mar 22, 2016	MedGen:CN232948	CLCN4-related disorder	de novo	X	10213705	TTGCAGGTGGAGTTACCAGGATGACGGTGTCATTGGTGGTCATCATGTTTGAATTAACCGG
199422181	34470	NM_018136.4(ASPM):c.8668C>T (p.Gln2890Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197100583	TTACTATATAGAAAAGCAGCAGTGGTTTTACAAAATCACTACAGAGCATTTCTGTCTGCAA
730880631	179350	NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter)	MYBPC3	Dec 16, 2014	MedGen:CN517202	not provided	germline	11	47346282	CCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGC
1064794937	411369	NM_003688.3(CASK):c.763C>T (p.Arg255Cys)	CASK	Jul 18, 2017	MedGen:CN517202	not provided	germline	X	41660507	ATCTCTGAAAGTGCCAAAGACCTAGTACGTCGCATGCTGATGCTGGATCCAGCTGAAAGGA
587782885	152717	NM_001128425.1(MUTYH):c.739C>T (p.Arg247Ter)	MUTYH	May 09, 2017	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Carcinoma of colon;Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline	1	45332440	GGCAACGTAGCACGGGTGCTGTGCCGTGTCCGAGCCATTGGTGCTGATCCCAGCAGCACCC
575017579	421525	NM_001369.2(DNAH5):c.5647C>T (p.Arg1883Ter)	DNAH5	Sep 23, 2015	MedGen:CN517202	not provided	germline	5	13840968	GTCACCACGAGGGATCTGAGTTCCACGGAACGAGTGAAATACGAGACTCTGATTACTATTC
370499474	206618	NM_033409.3(SLC52A3):c.796C>T (p.Arg266Trp)	SLC52A3	Aug 27, 2015	MedGen:CN029849,OMIM:211530;MedGen:CN517202	Brown-Vialetto-Van Laere syndrome 1;not provided	germline	20	763775	CTCAATGACCAGGTCACCCTCCACTCCATCCGGCCGCGGGAAGAGAATGACTTGGGCCCTG
397507556	49465	NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter)	CASQ2	Mar 25, 2014	MedGen:C2677794,OMIM:611938;MedGen:CN517202	Ventricular tachycardia, catecholaminergic polymorphic, 2;not provided	germline	1	115768445	CTTAATTTCCCCACATATGATGGGAAGGACCGAGTGGTAAGTCTTTCCGAGAAGAACTTCA
34208370	425331	NM_032409.2(PINK1):c.1474C>T (p.Arg492Ter)	PINK1	Jun 05, 2017	MedGen:CN517202	not provided	germline	1	20649217	GTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAGGTGAGGCTGTCCCCGG
774625619	368696	NM_001723.5(DST):c.4993C>T (p.Gln1665Ter)	DST	Dec 13, 2016	MedGen:CN517202	not provided	germline	6	56619041	AAAAGTCAAAATTTGGTAAGTGAATTTAAGCAAAAGTGTGACCAACAGAACATTATCATCC
121913575	29338	NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter)	LAMA2	Oct 24, 2000	MedGen:C1842898	Congenital muscular dystrophy due to partial LAMA2 deficiency	germline	6	129353285	TGTGACCCTGTCACAGGATTCTGCACGTGCCGACCTGGAGCCACGGGAAGGAAGTGTGACG
137852424	25271	NM_000132.3(F8):c.1804C>T (p.Arg602Ter)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154953991	GTCATCCTGTTTTCTGTATTTGATGAGAACCGAAGCTGGTACCTCACAGAGAATATACAAC
121908261	28431	NM_000207.2(INS):c.163C>T (p.Arg55Cys)	INS	Apr 01, 2008	MedGen:C1852092,OMIM:125852	Diabetes mellitus, insulin-dependent, 2	germline	11	2160809	GAACGAGGCTTCTTCTACACACCCAAGACCCGCCGGGAGGCAGAGGACCTGCAGGGTGAGC
121909582	32107	NM_001734.3(C1S):c.1600C>T (p.Arg534Trp)	C1S	Jun 15, 2001	MedGen:C3151078,OMIM:613783,SNOMED CT:234598004	Complement component c1s deficiency	germline	12	7070184	ACCAATTTTGATAATGACATTGCACTGGTGCGGCTGAAAGACCCAGTGAAAATGGGACCCA
575595017	479227	NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter)	BRIP1	Dec 19, 2016	MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	61859808	GCCTTACTTTGTTCTGCTTTAGCATGGCAACAATCTCTTAGTGGTAAGTAGTTGCTTGATA
76436818	131930	NM_006397.2(RNASEH2A):c.322C>T (p.Arg108Trp)	RNASEH2A	Mar 13, 2014	MedGen:C1835912,OMIM:610333	Aicardi Goutieres syndrome 4	germline	19	12807328	CCAAACCTCATCTCTACCAGCATGCTTGGGCGGTGAGGGGTCCCCGGGAGGGGCAGCCAGC
121909487	22040	NM_002316.3(LMX1B):c.661C>T (p.Arg221Ter)	LMX1B	May 01, 1998	MedGen:C0027341,OMIM:161200,SNOMED CT:22199006	Nail-patella syndrome	germline	9	126693243	GATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGC
63750563	94804	NM_000179.2(MSH6):c.3013C>T (p.Arg1005Ter)	MSH6	Oct 02, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline;unknown	2	47800996	GAGTTGAAATCTACCAAGAAGGGCTGTAAACGATACTGGACCAAAACTATTGAAAAGAAGT
116100695	16552	NM_000298.5(PKLR):c.1456C>T (p.Arg486Trp)	PKLR	Jan 27, 2016	MedGen:C1849472,OMIM:266200	Pyruvate kinase deficiency of red cells	germline	1	155291918	GCCTCCTCCAGCTCAGCCCAGCTTCTGTCTCGGTACCGACCTCGGGCAGCAGTCATTGCTG
397516986	54177	NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter)	PKP2	Oct 18, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;not provided	germline	12	32868965	TCCAGGATTTCTGCTGCAGCTACTTTCATACAGCACGAGTGCTTCCAGAAATCTGAAGCTC
797045659	207951	NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter)	KMT2D	Feb 16, 2017	MedGen:CN030661,OMIM:147920;MedGen:CN517202	Kabuki syndrome 1;not provided	germline	12	49026887	GGCACAGCCTTGCGACCTGACAAGGTACCGCGAGACATGCGTCGCTGCTGTTTCTGTCATG
137852835	16381	NM_025114.3(CEP290):c.613C>T (p.Arg205Ter)	CEP290	Jul 01, 2007	MedGen:C1970161,OMIM:611134	Meckel syndrome type 4	germline	12	88130324	TTATCAAGAAGAGGGGAAGACAGTGACTACCGATCACAGTTGTCTAAAAAAAACTATGAGC
121917725	15254	NM_000285.3(PEPD):c.793C>T (p.Arg265Ter)	PEPD	Apr 06, 2015	MedGen:C0268532,OMIM:170100	Prolidase deficiency	germline	19	33411697	CACTACGGACACGCCGGAGCTCCCAACGACCGAACGATCCAGAATGGGGATATGTGGTAAG
121912995	31881	NM_004415.3(DSP):c.1990C>T (p.Gln664Ter)	DSP	Feb 01, 2002	MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165	Skin fragility woolly hair syndrome	germline	6	7571928	GTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGA
104894018	29939	NM_005522.4(HOXA1):c.76C>T (p.Arg26Ter)	HOXA1	May 15, 2008	MedGen:C1832215,OMIM:601536,Orphanet:ORPHA69739	Athabaskan brainstem dysgenesis	germline	7	27095837	AGCAGTGGCGACTCGGGGACCTGCTCAGCCCGAGCCTACCCCTCGGACCATAGGATTACAA
137853329	26500	NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter)	IKBKG	Jun 01, 2002	MedGen:C1846006,OMIM:300291,Orphanet:ORPHA98813	Hypohidrotic ectodermal dysplasia with immune deficiency	germline	X	154564408	CCTGACTTCTGCTGTCCCAAGTGCCAGTATCAGGCCCCTGATATGGACACCCTGCAGATAC
587777468	263168	NM_006087.3(TUBB4A):c.533C>T (p.Thr178Met)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495966	GCGTGGTGCCCTCGCCCAAAGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTC
111033656	36470	NM_000155.3(GALT):c.197C>T (p.Pro66Leu)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647203	AAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCC
121917812	24586	NM_201590.2(CACNB2):c.1442C>T (p.Ser481Leu)	CACNB2	Apr 10, 2014	MedGen:C2678477,OMIM:611876	Brugada syndrome 4	germline	10	18539345	TCAAGAAATCCCAGCACCGCTCTTCCTCCTCAGCCCCACACCACAACCATCGCAGTGGGAC
149645175	48773	NM_002335.3(LRP5):c.4600C>T (p.Arg1534Ter)	LRP5	Mar 14, 2013	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68448822	GTGTGTGTCCCTTTCAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCA
796052248	203860	NM_000026.3(ADSL):c.1276C>T (p.Arg426Cys)	ADSL	Jul 19, 2012	MedGen:CN517202	not provided	germline	22	40364964	CAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCA
727503011	176330	NM_001399.4(EDA):c.991C>T (p.Gln331Ter)	EDA	May 05, 2014	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468	Hypohidrotic ectodermal dysplasia	germline	X	70035424	GAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGA
587784566	168023	NM_014795.3(ZEB2):c.2761C>T (p.Arg921Ter)	ZEB2	Oct 24, 2017	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152;MedGen:CN517202	Mowat-Wilson syndrome;not provided	de novo;germline	2	144398426	CCACCAGTCCAGACCAGTATTCCTGGGCTACGACCATACCCAGGACTGGATCAGATGAGCT
-1	468793	NM_000540.2(RYR1):c.14833C>T (p.Arg4945Ter)	RYR1	Jul 11, 2017	MedGen:CN239331	RYR1-Related Disorders	germline	19	38585967	GGTCTGATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATA
137852746	23841	NM_001204.6(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2	Jul 11, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202552773	GAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGCACAGTGTGCTGAGGAAAGGA
312262810	49488	NM_003611.2(OFD1):c.121C>T (p.Arg41Ter)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13736487	TTTGTTTTTATTTTATGCTAGACACAACTTCGAAACCAGCTAATTCATGAGTTGATGCACC
1060502661	404261	NM_004006.2(DMD):c.2077C>T (p.Gln693Ter)	DMD	Sep 08, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32545250	GAAACAGTAACTACGGTGACCACAAGGGAACAGATCCTGGTAAAGCATGCTCAAGAGGAAC
587783029	166240	NM_000038.5(APC):c.3286C>T (p.Gln1096Ter)	APC	May 09, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112838880	CACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGG
761071115	486618	NM_004737.5(LARGE1):c.283C>T (p.Arg95Ter)	LARGE1	Aug 07, 2017	MedGen:C3150414,OMIM:613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	inherited	22	33650492	CTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGG
45438205	58932	NM_000548.4(TSC2):c.3598C>T (p.Arg1200Trp)	TSC2	Sep 14, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2080365	CTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGC
137929776	421165	NM_021222.2(PRUNE1):c.196C>T (p.Arg66Ter)	PRUNE1	Jun 01, 2017	MedGen:CN517202	not provided	germline	1	151018530	TTAAATATAAAACGTTCTGAACTACCTCTGCGAGGTGACATTGTCTTCTTTCTTCAGAAGG
121913065	31564	NM_000129.3(F13A1):c.514C>T (p.Arg172Ter)	F13A1	Dec 01, 1993	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6266615	GTTGCTGTCTGGACTCCCTATGGCGTACTTCGAACCAGTCGAAACCCAGAAACAGACACGT
132630295	26137	NM_001128834.2(PLP1):c.409C>T (p.Arg137Trp)	PLP1	Apr 17, 2007	MedGen:C1839264,OMIM:312920,Orphanet:ORPHA99015	Spastic paraplegia 2	germline	X	103786682	AGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAG
267608682	40106	NM_007055.3(POLR3A):c.3013C>T (p.Arg1005Cys)	POLR3A	Aug 02, 2012	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	germline	10	77985961	TCCCAGCCCCGTGTGCTGTACCAGCTGGACCGCATCACCCCCACCCAAGTAGAAAAGTTTC
61755792	28209	NM_000322.4(PRPH2):c.514C>T (p.Arg172Trp)	PRPH2	Jan 01, 1998	MedGen:C2751290,OMIM:613105;MedGen:CN517202	Choroidal dystrophy, central areolar 2;not provided	germline	6	42721821	GAGTTCAAATGCTGCGGCAACAACGGTTTTCGGGACTGGTTTGAGATTCAGTGGATCAGCA
72554307	26052	NM_000531.5(OTC):c.118C>T (p.Arg40Cys)	OTC	Feb 01, 2001	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38367331	CCACTACAAAATAAAGTGCAGCTGAAGGGCCGTGACCTTCTCACTCTAAAAAACTTTACCG
749908889	214554	NM_000532.4(PCCB):c.1540C>T (p.Arg514Ter)	PCCB	-	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136329946	GACATCATCCAACCTTCTTCCACACGTGCCCGAATCTGCTGTGACCTGGATGTCTTGGCCA
-1	428701	NM_152743.3(BRAT1):c.964C>T (p.Gln322Ter)	BRAT1	Jan 14, 2016	MedGen:C3281029,OMIM:614498,Orphanet:ORPHA435845	Rigidity and multifocal seizure syndrome, lethal neonatal	germline	7	2542171	CTGAGGACCCAGGCCTTCCAGGTCCTTCTCCAGCCCCTGGCCTGTGTCCTGAAGGCCACGG
121908462	20868	NM_005682.6(ADGRG1):c.112C>T (p.Arg38Trp)	ADGRG1	Mar 26, 2004	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline	16	57651247	CACAGGGAAGACTTTCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCACT
751000085	194371	NM_003000.2(SDHB):c.343C>T (p.Arg115Ter)	SDHB	Jul 11, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C1861848,OMIM:115310;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Paragangliomas 4;Pheochromocytoma	germline	1	17028680	ATCAATGGAGGCAACACTCTAGCTTGCACCCGAAGGATTGACACCAACCTCAATAAGGTCT
397509283	70244	NM_007294.3(BRCA1):c.5431C>T (p.Gln1811Ter)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:CN517202	Breast-ovarian cancer, familial 1;not provided	germline	17	43047679	ATCCAGGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCT
397515434	48590	NM_006147.3(IRF6):c.145C>T (p.Gln49Ter)	IRF6	Nov 01, 2009	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209801269	CCCTGGAAACATGCCACCCGGCATAGCCCTCAACAAGAAGAGGAAAATACCATTTTTAAGG
80357011	69802	NM_007294.3(BRCA1):c.4186C>T (p.Gln1396Ter)	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43082575	TTTTCTTGGTGCCATTTATCGTTTTTGAAGCAGAGGGATACCATGCAACATAACCTGATAA
1043384862	359980	NM_001080463.1(DYNC2H1):c.4625C>T (p.Ala1542Val)	DYNC2H1	Jun 01, 2017	MedGen:CN674505;MedGen:C2751311,OMIM:613091,SNOMED CT:254051008;MedGen:CN517202	Short-rib polydactyly syndrome type III;Short-rib thoracic dysplasia 3 with or without polydactyly;not provided	germline;paternal	11	103165911	TTCTCTTTATTCAATAGATTTTATGCTTGGCGGAGCAGATTAAATTCACTGAAGATGTAGA
886044843	269807	NM_000169.2(GLA):c.422C>T (p.Thr141Ile)	GLA	Dec 23, 2015	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101401757	TAGGGATTTATGCAGATGTTGGAAATAAAACCTGCGCAGGCTTCCCTGGGAGTTTTGGATA
-1	441347	NM_033305.2(VPS13A):c.4411C>T (p.Arg1471Ter)	VPS13A	Feb 16, 2017	MedGen:CN517202	not provided	germline	9	77314663	AAAAGACCTCATGTCAAGAAAGCAACTCCTCGGTATGTATTGTAATGATGTTCTAAGGTTT
398123013	49925	NM_020944.2(GBA2):c.700C>T (p.Arg234Ter)	GBA2	Apr 04, 2013	MedGen:C2828721,OMIM:614409,Orphanet:ORPHA320391	Spastic paraplegia 46, autosomal recessive	germline	9	35741758	TACTTTGCTTTCTACCATGCCCTCTATCCCCGAGCCTGGACTGTCTATCAGCTTCCTGGCC
121918225	16265	NM_006363.5(SEC23B):c.970C>T (p.Arg324Ter)	SEC23B	Aug 01, 2009	MedGen:C1306589,OMIM:224100,Orphanet:ORPHA98873,SNOMED CT:68870007	Congenital dyserythropoietic anemia, type II	germline	20	18526508	TCTTGGCATGATATTGAGAAAGATAATGCACGATTCATGAAAAAGGCAACCAAGGTAGGTG
193922287	44869	NM_000162.3(GCK):c.175C>T (p.Pro59Ser)	GCK	Jun 27, 2017	MedGen:C1841962,OMIM:125851;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44153334	ACCCATGAAGAGGCCAGTGTGAAGATGCTGCCCACCTACGTGCGCTCCACCCCAGAAGGCT
199473225	78737	NM_198056.2(SCN5A):c.3995C>T (p.Pro1332Leu)	SCN5A	Jun 11, 2016	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38560397	TGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCCATCATGAACGTCCTCCTCGTCTGCCT
-1	451191	NM_000251.2(MSH2):c.2563C>T (p.Gln855Ter)	MSH2	Apr 27, 2017	MedGen:C0009405,Orphanet:ORPHA443090	Hereditary nonpolyposis colon cancer	germline	2	47480800	AAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATA
387906941	39539	NM_001127713.1(ATL1):c.1246C>T (p.Arg416Cys)	ATL1	Jul 01, 2011	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984	Spastic paraplegia 3	germline	14	50628157	AAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAG
199472795	67666	NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp)	KCNQ1	Jun 29, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2775984	CCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCC
121908170	19687	NM_006492.2(ALX3):c.586C>T (p.Arg196Trp)	ALX3	May 01, 2009	MedGen:C1876203,OMIM:136760	Frontonasal dysplasia 1	germline	1	110064595	CTGGCCCTGCGCACAGACCTGACTGAGGCCCGGGTACAGGTGAGGGCACTGCAAGGATGGG
185392267	434143	NM_174936.3(PCSK9):c.286C>T (p.Arg96Cys)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55043921	ACCCACCTCTCGCAGTCAGAGCGCACTGCCCGCCGCCTGCAGGCCCAGGCTGCCCGCCGGG
128621194	26405	NM_000061.2(BTK):c.862C>T (p.Arg288Trp)	BTK	Jan 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101359325	CTTCACAGGTGGTATTCCAAACACATGACTCGGAGTCAGGCTGAGCAACTGCTAAAGCAAG
879253751	243942	NM_000902.3(MME):c.661C>T (p.Gln221Ter)	MME	Jul 06, 2016	MedGen:C4015635,OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	germline	3	155118752	TTCTTTTATGTATATTTTTTATAGATTGACCAACCTCGACTTGGCCTCCCTTCTAGAGATT
774277300	183503	NM_005591.3(MRE11):c.1726C>T (p.Arg576Ter)	MRE11	Sep 30, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	94447276	ACCAACAAAGGAAGAGGCCGAGGAAGAGGTCGAAGAGGTGGAAGAGGGCAGAATTCAGCAT
866266558	359522	NM_017875.3(SLC25A38):c.166C>T (p.Gln56Ter)	SLC25A38	Nov 16, 2016	MedGen:CN517202	not provided	germline	3	39389591	CAACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCCTCAGATCATGGGTAGG
-1	425531	NM_007289.2(MME):c.1564C>T (p.Gln522Ter)	MME	Jun 19, 2017	MedGen:CN517202	not provided	germline	3	155148616	ATTCAAAATTTGAAATTCAGCCAAAGTAAACAACTGAAGAAGCTCCGAGAAAAGGTGGACA
368138001	102410	NM_153240.4(NPHP3):c.3373C>T (p.Arg1125Ter)	NPHP3	Oct 21, 2013	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006;MedGen:C1858392,OMIM:604387,SNOMED CT:444749006;MedGen:C2673883,OMIM:208540,Orphanet:ORPHA294415	Adolescent nephronophthisis;Adolescent nephronophthisis;Renal-hepatic-pancreatic dysplasia	germline;inherited	3	132684751	TTTCTGAAGCGTTCCTTAGAAATGAGGGAGCGAGTTCTAGGACCAGATCACCCTGACTGTG
796053353	202287	NM_003165.3(STXBP1):c.416C>T (p.Pro139Leu)	STXBP1	Jan 01, 2018	MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy 4;not provided	de novo;germline	9	127661192	CTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGG
878853258	39231	NM_001197181.1(TUBB3):c.689C>T (p.Ala230Val)	TUBB3	Nov 15, 2010	MedGen:C3279670,OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	germline	16	89935356	AGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGAC
104894055	23022	NM_000474.3(TWIST1):c.82C>T (p.Gln28Ter)	TWIST1	May 01, 2002	MedGen:C1863370	Saethre-Chotzen syndrome with eyelid anomalies	germline	7	19117240	AGCAACAGCGAGGAAGAGCCAGACCGGCAGCAGCCGCCGAGCGGCAAGCGCGGGGGACGCA
267608469	153285	NM_004992.3(MECP2):c.382C>T (p.Gln128Ter)	MECP2	Sep 27, 2012	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	unknown	X	154031446	TTGTGTCTTTCTGTTTGTCCCCACAGTCCCCAGGGAAAAGCCTTTCGCTCTAAAGTGGAGT
397516792	49214	NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu)	MAP2K1	May 22, 2017	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006740,MedGen:C0279680	Cardio-facio-cutaneous syndrome;Colorectal Neoplasms;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Transitional cell carcinoma of the bladder	germline;somatic	15	66436825	AGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTA
121912737	32838	NM_001681.3(ATP2A2):c.1805C>T (p.Pro602Leu)	ATP2A2	Feb 01, 2003	MedGen:C0265971,OMIM:101900,Orphanet:ORPHA79151,SNOMED CT:400085009	Acrokeratosis verruciformis of Hopf	germline	12	110340702	TCGTTGGCTGCGTGGGCATGCTGGATCCTCCGAGAATCGAGGTGGCCTCCTCCGTGAAGCT
63751048	34358	NM_014043.3(CHMP2B):c.556C>T (p.Arg186Ter)	CHMP2B	Oct 04, 2012	MedGen:C1833296,OMIM:600795;MedGen:CN517202	Frontotemporal Dementia, Chromosome 3-Linked;not provided	not provided	3	87253736	ATATAGATGGCCAAAGCTCCATCAGCTGCTCGAAGCTTACCATCTGCCTCTACTTCAAAGG
397516828	125840	NM_002880.3(RAF1):c.782C>T (p.Pro261Leu)	RAF1	Aug 01, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1969057,OMIM:611553;MedGen:CN517202	Noonan syndrome;Noonan syndrome 5;not provided	germline;somatic	3	12604188	TCTCCCAGAGGCAGAGGTCGACATCCACACCTAATGTCCACATGGTCAGCACCACCCTGCC
104894418	22711	NM_002312.3(LIG4):c.1738C>T (p.Arg580Ter)	LIG4	Dec 01, 2001	MedGen:C1847827,OMIM:606593,Orphanet:ORPHA99812	Lig4 syndrome	germline	13	108209531	TATAAAACTGGCTGCACCTTGCGTTTTCCACGAATTGAAAAGATAAGAGATGACAAGGAGT
775126020	182339	NM_000038.5(APC):c.994C>T (p.Arg332Ter)	APC	Jun 02, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112819026	CTTGGTACTCATGATAAGGATGATATGTCGCGAACTTTGCTAGCTATGTCTAGCTCCCAAG
398124202	187400	NM_005249.4(FOXG1):c.256C>T (p.Gln86Ter)	FOXG1	Jan 01, 2018	MedGen:C3150705,OMIM:613454;MedGen:CN517202	Rett syndrome, congenital variant;not provided	de novo;germline;unknown	14	28767535	CCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCGACGACG
201956469	414516	NM_017799.3(TMEM260):c.1393C>T (p.Gln465Ter)	TMEM260	May 12, 2017	MedGen:CN243983,OMIM:617478	Structural heart defects and renal anomalies syndrome	germline	14	56621697	GGGTTGAGGCCTGACATTTCATTAGTGGATCAGGAAGTAAGTATATGAAAAATATACTTAG
786201957	183231	NM_000051.3(ATM):c.3349C>T (p.Gln1117Ter)	ATM	May 04, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108279555	TTACTGAAAGCACTTCCTTTGAAGCTTCAGCAAACAGCTTTTGAAAATGCATACTTGAAAG
11547328	31967	NM_000075.3(CDK4):c.70C>T (p.Arg24Cys)	CDK4	Aug 15, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C1836892,OMIM:609048;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1512419;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MedGen:CN517202	Adenocarcinoma of lung;Cutaneous malignant melanoma 3;Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;Malignant melanoma of skin;Multiple myeloma;not provided	germline;somatic;unknown	12	57751648	GTCGGTGCCTATGGGACAGTGTACAAGGCCCGTGATCCCCACAGTGGCCACTTTGTGGCCC
387907040	39829	NM_024306.4(FA2H):c.460C>T (p.Arg154Cys)	FA2H	Aug 18, 2015	MedGen:C3668943,OMIM:612319,Orphanet:ORPHA329308;MedGen:CN517202	Spastic paraplegia 35;not provided	germline	16	74727290	TGGGTTCACCAGCCGGTGACCAGGCCCATCCGCCTCTTCCACTCAGACCTCATTGAGGGCC
121918580	28143	NM_000283.3(PDE6B):c.1591C>T (p.Arg531Ter)	PDE6B	Jun 01, 1993	MedGen:C3151107,OMIM:613801	Retinitis pigmentosa 40	germline	4	660590	ATCCAGATGTACTACGAGCTGGGCGTGGTCCGAAAGTTCCAGATCCCCCAGGAGGTGGGAG
1057519513	362298	NM_001003694.1(BRPF1):c.3298C>T (p.Arg1100Ter)	BRPF1	Feb 09, 2017	MedGen:C4310617,OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	germline	3	9745904	GATGCTCTGGACCTCGTGTGGGCCAAATGCCGAGGCTATCCATCATACCCAGCTCTGGTAT
606231292	167504	NM_033071.3(SYNE1):c.10789C>T (p.Arg3597Ter)	SYNE1	Feb 05, 2013	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644	Spinocerebellar ataxia, autosomal recessive 8	germline	6	152354817	CAGGCTTACCAGCACAGGCTGTCCGAGACTCGAACTCAGTTCAATAACGTGGTGAACAAAT
794727531	193770	NM_000350.2(ABCA4):c.4429C>T (p.Gln1477Ter)	ABCA4	Aug 21, 2014	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline	1	94029555	TCCCCAAACATCACCCAGCTGTTCCAGAAGCAGAAATGGACACAGGTCAACCCTTCACCAT
759607901	225791	NM_006502.2(POLH):c.907C>T (p.Arg303Ter)	POLH	Jan 01, 2013	MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342	Xeroderma pigmentosum, variant type	germline	6	43604637	CTTATTAGGTCTTGGCTATATGCCATGTGCCGAGGGATTGAACATGATCCAGTTAAACCCA
80338785	34003	NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)	SCN4A	Apr 28, 2009	MedGen:CN074266,OMIM:170500;MedGen:C3714580,OMIM:170400	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1	germline	17	63959270	GTACAGGGACTGTCTGTGCTACGCTCCTTCCGTCTGGTACACAAAAGCCCCAGGGCCAGGG
794727170	191799	NM_004006.2(DMD):c.1912C>T (p.Gln638Ter)	DMD	Feb 24, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	32565782	CTTTCAACACTGAAGAATAAGTCAGTGACCCAGAAGACGGAAGCATGGCTGGATAACTTTG
775607037	187091	NM_016035.4(COQ4):c.421C>T (p.Arg141Ter)	COQ4	Jun 07, 2016	MedGen:C4225392,OMIM:616276,Orphanet:ORPHA457185	Coenzyme Q10 deficiency, primary, 7	germline	9	128332171	CATGGTTGTCAGAGGGTCTCCCCAGACACCCGAGCACCCACCCGCTTCGTGGATGATGAGG
886043992	272976	NM_004369.3(COL6A3):c.9193C>T (p.Gln3065Ter)	COL6A3	Jun 14, 2016	Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myopathy	germline	2	237334662	CATGTGGCTGTGGTCTGCTACCTGAGGTCTCAGGTCAGAGCCACCTACCACGGAAGTTTCA
80357497	69389	NM_007294.3(BRCA1):c.2923C>T (p.Gln975Ter)	BRCA1	Sep 15, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43092608	CTCATTACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTTC
61752123	28743	NM_000318.2(PEX2):c.355C>T (p.Arg119Ter)	PEX2	Mar 31, 2017	MedGen:C3542026,OMIM:614867;MedGen:C3553940,OMIM:614866;MedGen:C1832200,Orphanet:ORPHA79189	Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5a (zellweger);Peroxisome biogenesis disorders, Zellweger syndrome spectrum	germline;unknown	8	76983824	TGTACAATTGGTGGCAGGTGGTTAGAAGAACGATGCTATGATTTGTTTCGAAACCATCATT
104893621	24521	NM_001298.2(CNGA3):c.1306C>T (p.Arg436Trp)	CNGA3	Oct 01, 2001	MedGen:C1857618,OMIM:216900	Achromatopsia 2	germline	2	98396476	TTCCGCAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCTGTGGG
869312747	226220	NM_014625.3(NPHS2):c.812C>T (p.Pro271Leu)	NPHS2	Jan 01, 2016	MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656	Nephrotic syndrome, idiopathic, steroid-resistant	unknown	1	179552664	CTTTCTTTTTCAGTAAAGATGTGAGGTTGCCAGCTGGGCTTCAGCACTCACTGGCTGTGGA
398123870	100386	NM_004006.2(DMD):c.1990C>T (p.Gln664Ter)	DMD	Dec 11, 2012	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32565704	TTAGTCCAAAAACTTGAAAAGAGTACAGCACAGGTTAGTGATACCAATTATCATGCTACAG
138680796	40094	NM_174917.4(ACSF3):c.1411C>T (p.Arg471Trp)	ACSF3	Aug 14, 2011	MedGen:C3280314,OMIM:614265,Orphanet:ORPHA289504	Combined malonic and methylmalonic aciduria	germline	16	89145311	TTTAAGGATGGCCAGTACTGGATCCGAGGCCGGACCTCAGTGGACATCATCAAGACTGGAG
372277017	136108	NM_133378.4(TTN):c.12064C>T (p.Arg4022Ter)	TTN	Jan 30, 2014	MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609	Distal myopathy Markesbery-Griggs type	germline	2	178733497	ACCATTGTAGAACCTGCCAAAATCATTGAGCGAGCAGAACTGATCCAGGTGACAGCAGGAG
387907007	39728	NM_005461.4(MAFB):c.211C>T (p.Pro71Ser)	MAFB	Mar 09, 2012	MedGen:C2674705,OMIM:166300,Orphanet:ORPHA2774	Multicentric osteolysis nephropathy	germline	20	40688640	AGCACTCCGTGTAGCTCCGTGCCCTCGTCGCCCAGCTTCAGCCCGACCGAACAGAAGACAC
373844629	456980	NM_001277115.1(DNAH11):c.6004C>T (p.Arg2002Ter)	DNAH11	May 16, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21690844	TTTATTACTATGAACCCGGGTTATGCTGGTCGAACCGAATTACCGGAAAATCTCAAAGCTC
879253747	243971	NM_020732.3(ARID1B):c.2941C>T (p.Gln981Ter)	ARID1B	Mar 27, 2014	Human Phenotype Ontology:HP:0001344,MedGen:C1854882;Human Phenotype Ontology:HP:0000581,MedGen:C0005744;Human Phenotype Ontology:HP:0002342,MedGen:C0026351;Human Phenotype Ontology:HP:0000527,MedGen:C1853738;Human Phenotype Ontology:HP:0000179,MedGen:C2053437;Human Phenotype Ontology:HP:0000219,MedGen:C1865017	Absent speech;Blepharophimosis;Intellectual disability, moderate;Long eyelashes;Thick lower lip vermilion;Thin upper lip vermilion	de novo	6	157167101	GGACTTATGGCTTCCAGCTCTCCCTACAGCCAGCCCATGAACAACAGCTCTAGCCTGATGA
751130485	259651	NM_206933.2(USH2A):c.5836C>T (p.Arg1946Ter)	USH2A	Jul 24, 2017	MedGen:CN517202	not provided	germline	1	216072910	GAAGGAGGTTCAGTATATAGTGATTGGAGTCGAGGACGTACAACAGGAGCAGGTAAATACT
763389916	260671	NM_000050.4(ASS1):c.773+49C>T	ASS1	Sep 01, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130479849	GTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATG
863225091	214086	NM_001001523.1(RORC):c.922C>T (p.Gln308Ter)	RORC	Aug 07, 2015	MedGen:C4225266,OMIM:616622,Orphanet:ORPHA477857	Immunodeficiency 42	germline	1	151813569	CGGTGTGCCCACCACCTCACCGAGGCCATTCAGTACGTGGTGGAGTTCGCCAAGAGGCTCT
121434402	21270	NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter)	MTMR2	May 01, 2000	MedGen:C1832399,OMIM:601382,Orphanet:ORPHA99955	Charcot-Marie-Tooth disease, type 4B1	germline	11	95845063	CATTGCAGTGATGGTTGGGATCGCACAGCTCAGCTCACTTCCCTTGCCATGCTCATGTTGG
797044930	205274	NM_000834.3(GRIN2B):c.1916C>T (p.Ala639Val)	GRIN2B	Oct 28, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	12	13608697	AGATCATGGTGTCAGTGTGGGCCTTCTTTGCTGTCATCTTCCTGGCCAGCTACACTGCCAA
281864981	47639	NM_024312.4(GNPTAB):c.1519C>T (p.Gln507Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101766184	GGAGGAATAAACAGTGTCTCTTACTGTAATCAGGGATGTGCGAATTCCTGGCTCGCTGATA
137853064	22534	NM_001172567.1(MYD88):c.625C>T (p.Arg209Cys)	MYD88	Aug 01, 2008	MedGen:C2677092,OMIM:612260,Orphanet:ORPHA183713	Myd88 deficiency	germline	3	38140510	AACTATCGACTGAAGTTGTGTGTGTCTGACCGCGATGTCCTGCCTGGCACCTGTGTCTGGT
886040849	261555	NM_000059.3(BRCA2):c.9739C>T (p.Gln3247Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32398252	AGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGA
122460156	26553	NM_001011658.3(TRAPPC2):c.391C>T (p.Gln131Ter)	TRAPPC2	Apr 01, 2002	MedGen:C0220776,OMIM:313400,SNOMED CT:51952004	Spondyloepiphyseal dysplasia tarda	germline	X	13714439	ATTCGATCAAGTGCATTTGACAGAAAAGTTCAGTTTCTTGGGAAGAAACACCTTTTAAGCT
118204120	16525	NM_000190.3(HMBS):c.445C>T (p.Arg149Ter)	HMBS	Nov 25, 2015	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline;unknown	11	119090212	CTGGGCAGTGTGGTGGGAACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCC
587779783	132738	NM_000038.5(APC):c.2413C>T (p.Arg805Ter)	APC	May 07, 2016	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112838007	CTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTA
373780305	55471	NM_032119.3(ADGRV1):c.2398C>T (p.Arg800Ter)	ADGRV1	Jan 10, 2013	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90642886	GAAGGAGAATCTGTAGAGCTCCACATCATCCGATCAAGGGGGTCCCTTGTTAAGCAGTTTC
121909248	23128	NM_153427.2(PITX2):c.250C>T (p.Arg84Trp)	PITX2	Jan 01, 1998	MedGen:C1842031,OMIM:137600	Iridogoniodysgenesis, dominant type	germline	4	110621166	GTGTGGACCAACCTTACGGAAGCCCGAGTCCGGGTAGGAGCCAGCACGGAGTCTGGGAGGG
121918277	17223	NM_022370.3(ROBO3):c.733C>T (p.Arg245Trp)	ROBO3	Mar 01, 2006	MedGen:C1846496,OMIM:607313,Orphanet:ORPHA2744	Gaze palsy, familial horizontal, with progressive scoliosis	germline	11	124870035	GTGTGCGTAGCCTCCAACATGGCGGGAGAACGGGAGAGTGCGGCAGCTGAAGTCATGGTAC
200670286	39820	NM_018122.4(DARS2):c.1825C>T (p.Arg609Trp)	DARS2	Oct 01, 2011	MedGen:C1970180,OMIM:611105,Orphanet:ORPHA137898	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	germline	1	173857592	AGAGATGTCATAGCCTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATACCCCAG
104894766	26510	NM_005448.2(BMP15):c.226C>T (p.Arg76Cys)	BMP15	May 01, 2006	MedGen:C1845295	Premature ovarian failure 4	germline	X	50911009	TCACTGCGGTACATGCTGGAGTTGTACCGGCGTTCAGCTGACTCGCATGGGCACCCTAGAG
121908715	16998	NM_000022.3(ADA):c.986C>T (p.Ala329Val)	ADA	Apr 14, 2017	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277;MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277;MedGen:CN517202	Severe combined immunodeficiency due to ADA deficiency;Severe combined immunodeficiency due to ADA deficiency;not provided	germline;unknown	20	44620391	TGCCATTCTGGCCTTTCCAGAACATCAATGCGGCCAAATCTAGTTTCCTCCCAGAAGATGA
769035379	264695	NM_002905.3(RDH5):c.160C>T (p.Arg54Ter)	RDH5	Mar 06, 2016	MedGen:CN517202	not provided	germline	12	55721344	CTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCG
587783454	168629	NM_017780.3(CHD7):c.6850C>T (p.Arg2284Ter)	CHD7	Aug 26, 2015	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60854437	GCTTCCATGAGCACTGCTAGAGATGAAACCCGAGATGGATTCTACATGGAGGACGGAGATC
61752116	22740	NM_004565.2(PEX14):c.553C>T (p.Gln185Ter)	PEX14	Jun 01, 2004	MedGen:C3554004,OMIM:614887	Peroxisome biogenesis disorder 13A	germline	1	10624405	GAGCTGCTGATTCAGCAGCAGCAGAAGATCCAGGAGCTTGCCCACGAGCTGGCCGCTGCCA
137852372	25184	NM_000132.3(F8):c.1336C>T (p.Arg446Ter)	F8	Oct 01, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154966077	CAGCGGATTGGTAGGAAGTACAAAAAAGTCCGATTTATGGCATACACAGATGAAACCTTTA
398123948	100512	NM_004006.2(DMD):c.4117C>T (p.Gln1373Ter)	DMD	Nov 28, 2012	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32411868	AAGTTGCTTGAACAGAGCATCCAGTCTGCCCAGGAGACTGAAAAATCCTTACACTTAATCC
17857094	187625	NM_003159.2(CDKL5):c.2494C>T (p.Gln832Ter)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo	X	18625245	CGCCCCGAGAAGATCTCAGATCTGCAGACCCAAGTGAGTGGATCCTGCACCACTGCTAGAC
879253988	244699	NM_030962.3(SBF2):c.4315C>T (p.Gln1439Ter)	SBF2	Aug 15, 2015	MedGen:CN517202	not provided	germline	11	9808128	GATCCCTTTTATAGGACACTTGAAGGCTTCCAGATGTTGGTTGAAAAAGAGTGGCTCTCTT
137852922	18443	NM_015102.4(NPHP4):c.2335C>T (p.Gln779Ter)	NPHP4	Feb 10, 2016	MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:C1846979,OMIM:606996	Nephronophthisis;Senior-Loken syndrome 4	germline	1	5887436	CATCTCCTCCGCCAAGGCCGGCCGGCTGTGCAGGCCTCCCACGAGCTTGAGGTCGTGGCAA
201632198	55279	NM_024022.2(TMPRSS3):c.325C>T (p.Arg109Trp)	TMPRSS3	May 18, 2017	MedGen:C1832827,OMIM:601072,OMIM:605316;MedGen:CN239439;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, autosomal recessive 8;Nonsyndromic Hearing Loss, Recessive;Nonsyndromic hearing loss and deafness;not provided	germline;unknown	21	42388524	TAAGCCTTTCTTTCTGCACATCGGCCAGTCCGGGTGGGTGGTCAGAATGCCGTGCTCCAGG
104894585	78461	NM_000891.2(KCNJ2):c.224C>T (p.Thr75Met)	KCNJ2	Sep 22, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	17	70175263	GGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCT
104894511	17303	NM_000101.3(CYBA):c.7C>T (p.Gln3Ter)	CYBA	Mar 01, 2000	MedGen:C1856255,OMIM:233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	16	88651007	TGTCCCAGCCGGGTTCGTGTCGCCATGGGGCAGATCGAGTGGGCCATGTGGGCCAACGAAC
398123383	98887	NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter)	LAMA2	Feb 23, 2016	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129460287	GACAACAAACCTATAGGTTTGTGGAATTTCCGAGAAAAAGAAGGTGACTGCAAAGGATGCA
606231294	167521	NM_004415.3(DSP):c.1790C>T (p.Ser597Leu)	DSP	Apr 11, 2017	MedGen:C4014393,OMIM:615821;MedGen:CN517202	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;not provided	germline	6	7571471	ACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAA
-1	470758	NM_000540.2(RYR1):c.11662C>T (p.Gln3888Ter)	RYR1	Dec 16, 2016	MedGen:CN239331	RYR1-Related Disorders	germline	19	38537933	GAATTCACACAAGACCTGTTCCGATTCCTACAATTGCTCTGTGAGGGGCACAATAATGGTG
267607088	19844	NM_006415.3(SPTLC1):c.1055C>T (p.Ala352Val)	SPTLC1	Oct 01, 2009	MedGen:C0020071,OMIM:162400,Orphanet:ORPHA36386	Neuropathy hereditary sensory and autonomic type 1	germline	9	92047198	CTCCCCTGTTAGCTGCTGCAGCAATTGAGGCCCTCAACATCATGGAAGAGAATCCAGGTAT
80358972	46655	NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter)	BRCA2	Aug 22, 2017	MedGen:C2675520,OMIM:612555;MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462;MedGen:C2751641,OMIM:613029;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;MedGen:C3150546,OMIM:613347;MedGen:C1861028,OMIM:189960;MedGen:CN033288,OMIM:194070;MedGen:CN517202	Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia, complementation group D1;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Malignant tumor of prostate;Medulloblastoma;Pancreatic cancer 2;Tracheoesophageal fistula;Wilms tumor 1;not provided	germline;unknown	13	32356472	CTTCAGAATGCCAGAGATATACAGGATATGCGAATTAAGAAGAAACAAAGGCAACGCGTCT
113994170	33869	NM_000018.3(ACADVL):c.1405C>T (p.Arg469Trp)	ACADVL	Apr 30, 2014	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005	Very long chain acyl-CoA dehydrogenase deficiency	unknown	17	7224040	CGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGG
786205228	188142	NM_014225.5(PPP2R1A):c.536C>T (p.Pro179Leu)	PPP2R1A	May 31, 2016	MedGen:C0153574,Orphanet:ORPHA213569;MedGen:C4225352,OMIM:616362,Orphanet:ORPHA457284;MedGen:C0280630;MedGen:CN517202	Malignant neoplasm of body of uterus;Mental retardation, autosomal dominant 36;Uterine Carcinosarcoma;not provided	germline;somatic	19	52212718	ACTTCCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCT
121913576	29339	NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter)	LAMA2	Feb 27, 2013	MedGen:C1842898;MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Congenital muscular dystrophy due to partial LAMA2 deficiency;Merosin deficient congenital muscular dystrophy	germline	6	129464444	TCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTGGTAAAGATCATATGCATAGCAG
137853252	25918	NM_000284.3(PDHA1):c.904C>T (p.Arg302Cys)	PDHA1	Mar 21, 2016	MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243;MedGen:CN517202	Pyruvate dehydrogenase E1-alpha deficiency;not provided	germline	X	19358920	CGATTACTACTTTTCCCTCCCCATAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAA
-1	481753	NM_020732.3(ARID1B):c.2773C>T (p.Gln925Ter)	ARID1B	Oct 11, 2017	MedGen:CN517202	not provided	germline	6	157148845	AGCATGACCCCCAGTTCTCCTGGCATGTCTCAGCAGGGAGGGCCAGGAATGGGGCCGCCAA
137853043	22109	NM_006009.3(TUBA1A):c.790C>T (p.Arg264Cys)	TUBA1A	Dec 04, 2015	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011	Lissencephaly 3	germline	12	49185576	GAATTCCAGACCAACCTGGTGCCCTATCCCCGCATCCACTTCCCTCTGGCCACATATGCCC
121912863	32448	NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu)	COL4A4	Nov 01, 1998	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919	Alport syndrome, autosomal recessive	germline	2	227008112	ATGTCAGCCGCTGTGCGGTATGCGAGGCCCCGGCCCAGGCGGTGGCGGTGCACAGCCAGGA
886041347	264844	NM_000267.3(NF1):c.2446C>T (p.Arg816Ter)	NF1	Jun 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline	17	31229061	GAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCA
863225044	213903	NM_002860.3(ALDH18A1):c.412C>T (p.Arg138Trp)	ALDH18A1	Sep 15, 2015	MedGen:C4225268,OMIM:616603;MedGen:CN517202	Cutis laxa, autosomal dominant 3;not provided	germline	10	95637328	CGCCATGAGATCCTTCTGTCTCAGAGCGTGCGGCAGGCCCTCCACTCGGGGCAGAACCAGC
57499817	29687	NM_000424.3(KRT5):c.74C>T (p.Pro25Leu)	KRT5	Sep 01, 2011	MedGen:C0432316,OMIM:131960,Orphanet:ORPHA79397,SNOMED CT:254180002;MedGen:CN517202	Epidermolysis bullosa simplex with mottled pigmentation;not provided	germline	12	52520223	GTAGCTTCAGCACCGCCTCTGCCATCACCCCGTCTGTCTCCCGCACCAGCTTCACCTCCGT
120074138	17950	NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter)	SBF2	May 01, 2003	MedGen:C1858280	Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma	germline	11	9832290	AAGAACTCAAGAAGTGGTACTCTGCTCCTCCGATCTGGAGGATTCCATGGGAAGGGAGTCG
121908177	19611	NM_031885.3(BBS2):c.823C>T (p.Arg275Ter)	BBS2	Aug 12, 2017	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C2936863,OMIM:615981;MedGen:CN517202	Bardet-Biedl syndrome;Bardet-Biedl syndrome 2;not provided	germline;unknown	16	56502790	TTTTATTTGTAGGTTGATGCTCGAAGTGACCGAACTGGGGAGGTCATCTTTAAGGACAATT
121913630	29134	NM_000257.3(MYH7):c.2167C>T (p.Arg723Cys)	MYH7	Aug 14, 2017	MedGen:CN230736;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23425814	GTGACTCTGGACACTTCCCTCCTCAGGTATCGCATCCTGAACCCAGCGGCCATCCCTGAGG
104893651	19251	NM_001127366.2(PAX3):c.251C>T (p.Ser84Phe)	PAX3	Jun 04, 2016	MedGen:C0342680,OMIM:148820,SNOMED CT:237918004;MedGen:C1847800,OMIM:193500	Klein-Waardenberg's syndrome;Waardenburg syndrome type 1	germline	2	222297048	GCCAGCTGCGCGTGTCCCACGGCTGCGTCTCCAAGATCCTGTGCAGGTACCAGGAGACTGG
797044535	178794	NM_000081.3(LYST):c.3622C>T (p.Gln1208Ter)	LYST	Jan 15, 2015	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	germline	1	235802998	GGTGATTTTTCAGAAGAAGCTGAGGATTCTCAGTGTTGTAGTTTTAAACTTTTAGTTGAAG
118203960	16175	NM_001142617.1(STRA6):c.1931C>T (p.Thr644Met)	STRA6	Mar 01, 2007	MedGen:C1832661,OMIM:601186,Orphanet:ORPHA2470	Microphthalmia syndromic 9	germline	15	74180153	GCGGCAGGGCTCGCTGGGGTCTGGCCTACACGCTGCTGCACAACCCAACCCTGCAGGTCTT
63750425	29306	NM_016835.4(MAPT):c.2006C>T (p.Ser669Leu)	MAPT	Nov 01, 2003	MedGen:C0038868,OMIM:601104,SNOMED CT:28978003;MedGen:CN517202	Progressive supranuclear ophthalmoplegia;not provided	germline	17	46018675	AGAAGCTTGACTTCAAGGACAGAGTCCAGTCGAAGATTGGGTCCCTGGACAATATCACCCA
121912997	31884	NM_004415.3(DSP):c.3799C>T (p.Arg1267Ter)	DSP	Jul 10, 2014	MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004	Cardiomyopathy dilated with woolly hair and keratoderma;Long QT syndrome;Primary dilated cardiomyopathy	germline	6	7579989	AATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGC
570278338	168182	NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter)	NSD1	Feb 16, 2016	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002;MedGen:CN035106,OMIM:117550	Beckwith-Wiedemann syndrome;Sotos syndrome 1	germline	5	177246710	ACTACCAAGATATTTGACAAGCCAAGGAAGCGAAAACGACAGAGGCATGCTGCAGCCAAGA
587779075	96032	NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter)	MSH2	Sep 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided	germline;unknown	2	47429830	GATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAG
749655461	359095	NM_003805.4(CRADD):c.508C>T (p.Arg170Cys)	CRADD	Dec 19, 2016	MedGen:C3281044,OMIM:614499	Mental retardation, autosomal recessive 34	germline	12	93850179	GTGGTGGAGGCCTTCATCCGTTGGCGGCAGCGCTTCGGGAAGCAGGCCACCTTCCAGAGCC
62514953	15637	NM_000277.2(PAH):c.818C>T (p.Ser273Phe)	PAH	Jan 01, 1991	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102852839	TCCACTGCACACAGTACATCAGACATGGATCCAAGCCCATGTATACCCCCGAACCGTGAGT
886039673	259717	NM_001204.6(BMPR2):c.1789C>T (p.Arg597Ter)	BMPR2	Jun 15, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202555454	ATTAACTATGAACGACAGCAAGCACAAGCTCGAATCCCCAGCCCTGAAACAAGTGTCACCA
796052116	200881	NM_001130144.2(LTBP3):c.421C>T (p.Gln141Ter)	LTBP3	Jun 01, 2015	MedGen:C1832594,OMIM:601216,Orphanet:ORPHA2899	Verloes Bourguignon syndrome	germline	11	65554291	TGTCCCCCGGACTTCACTGGGCGCTTCTGCCAGGTGCCCGCAGGAGGAGCCGGTGGGGGTA
757208121	394140	NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter)	CC2D2A	Sep 13, 2016	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005	Joubert syndrome;Meckel-Gruber syndrome	germline	4	15527564	TTAATCTTCACTCATCATCCCTGTTTTAGCCGAGAGCATGTTTTGGCAGCCAAGCTGGCCC
137852292	25576	NM_000292.2(PHKA2):c.394C>T (p.His132Tyr)	PHKA2	May 01, 1996	MedGen:C2748941	Glycogen storage disease IXa2	germline	X	18951164	GGCACGGTGGTGGGCGACGACCAGTGGGGCCACCTCCAGGTGGATGCCACCTCTCTCTTCC
794726869	190188	NM_138395.3(MARS2):c.550C>T (p.Gln184Ter)	MARS2	Jun 01, 2015	MedGen:C4225329,OMIM:616430,Orphanet:ORPHA447954	Combined oxidative phosphorylation deficiency 25	germline	2	197705955	GAGTGCTTCCTGCCTGAGGCCAAGGTCACCCAGCAGCCGGGCCCATCGGGGGATTCGTTTC
387906878	39358	NM_004247.3(EFTUD2):c.2770C>T (p.Gln924Ter)	EFTUD2	Feb 10, 2012	MedGen:C1864652,OMIM:610536,Orphanet:ORPHA79113	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	germline	17	44851763	AAGAGCATTGTCATCCGCCCCTTGGAGCCACAGCCAGCTCCTCACCTGGCCCGGGAATTCA
377480477	176111	NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)	STRC	Jun 25, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	15	43603385	TCAGAACCTGTGCCAAATTGTGCAGATGTACGAGGGACATTCCCAGCAGCCTGGTCTGCAA
28940870	18986	NM_000062.2(SERPING1):c.1396C>T (p.Arg466Cys)	SERPING1	Jan 05, 2017	MedGen:C1862892,Orphanet:ORPHA100051,SNOMED CT:234620006;MedGen:CN517202	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor;not provided	germline	11	57614474	GCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGC
121912700	33152	NM_000666.2(ACY1):c.589C>T (p.Arg197Trp)	ACY1	Jun 12, 2007	MedGen:C1835922,OMIM:609924,Orphanet:ORPHA137754	Aminoacylase 1 deficiency	germline	3	51986993	CTGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGGCCAGGCCATG
58852768	29615	NM_000421.3(KRT10):c.466C>T (p.Arg156Cys)	KRT10	Oct 26, 2016	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	17	40822120	GAAAAAGTAACCATGCAGAATCTGAATGACCGCCTGGCTTCCTACTTGGACAAAGTTCGGG
886044302	274139	NM_000328.2(RPGR):c.1387C>T (p.Gln463Ter)	RPGR	Aug 02, 2016	MedGen:C1848295,OMIM:300029	Retinitis pigmentosa 15	germline	X	38297311	AGAAACCTCCAAGAGAGTGTCTTATCTGAACAGGACCTCATGCAGCCAGAGGAACCAGGTA
863225212	214376	NM_003611.2(OFD1):c.2668C>T (p.Arg890Ter)	OFD1	Jul 19, 2016	MedGen:C2749019,OMIM:300804;MedGen:CN517202	Joubert syndrome 10;not provided	germline;unknown	X	13767195	GAAAAAATACGGGAACAGCAAGTGAAAGAACGAAGGCAGAGAGAAGAAAGAAGGCAGAGTA
-1	260332	NM_007075.3(WDR45):c.46C>T (p.Gln16Ter)	WDR45	Feb 11, 2016	MedGen:CN517202	not provided	germline	X	49078050	CTTCGAGGAGTGACCAGCCTGCGTTTCAACCAAGACCAAAGTGAGAGAGGATTGGGCCTGT
397515417	48311	NM_018486.2(HDAC8):c.932C>T (p.Thr311Met)	HDAC8	Sep 13, 2012	MedGen:C3550903,OMIM:300882	Cornelia de Lange syndrome 5	germline	X	72462077	TGGAGACAGGAGGCTATAACCTTGCCAACACGGCTCGATGCTGGACATACTTGACCGGGGT
121918131	15611	NM_000893.3(KNG1):c.586C>T (p.Arg196Ter)	KNG1	Nov 05, 1993	MedGen:C1856719	Kininogen deficiency, total	germline	3	186727258	TTGTTTCAGGTGGTGGCTGGATTGAACTTTCGAATTACCTACTCAATTGTGCAAACGAATT
373924400	440193	NM_001080463.1(DYNC2H1):c.9565C>T (p.Gln3189Ter)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103234158	CTTGACAGAGAACATAAGAGATGGAATGCACAGGTTTGTTTGAGAGAGGGGCCATGAGGAG
797044676	192398	NM_005183.3(CACNA1F):c.244C>T (p.Arg82Ter)	CACNA1F	Jun 02, 2014	MedGen:C1845407,OMIM:300476;MedGen:C1848172,OMIM:300071	Cone-rod dystrophy X-linked 3;Congenital stationary night blindness, type 2A	germline	X	49231709	CTCTTCTGCCTCACCCTGGCCAATCCTCTGCGACGGTCCTGCATCAGCATCGTGGAGTGGA
397508983	69274	NM_007294.3(BRCA1):c.2572C>T (p.Gln858Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Breast-ovarian cancer, familial 1;Neoplasm of the breast	germline	17	43092959	GAAGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGT
144411158	39836	NM_017565.3(FAM20A):c.406C>T (p.Arg136Ter)	FAM20A	Jan 01, 2012	MedGen:C2931783,OMIM:204690,Orphanet:ORPHA1031,SNOMED CT:109477002	Enamel-renal syndrome	germline	17	68555742	TCTAATGAACAACTATCTGGCTCTTTCAGGCGACACAAGATGTACAGAGAGCAGATGAACC
121909550	33049	NM_000488.3(SERPINC1):c.1277C>T (p.Ser426Leu)	SERPINC1	Apr 06, 1992	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173904007	CAAGTACCGCTGTTGTGATTGCTGGCCGTTCGCTAAACCCCAACAGGGTGACTTTCAAGGC
878854667	475360	NM_004329.2(BMPR1A):c.271C>T (p.Gln91Ter)	BMPR1A	May 24, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	86892167	CATTGCTTTGCCATCATAGAAGAAGATGACCAGGGAGAAACCACATTAGCTTCAGGGTGTA
-1	473514	NM_000249.3(MLH1):c.2098C>T (p.Gln700Ter)	MLH1	Jul 07, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	37049012	TACATATCTGAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCAC
886043743	272067	NM_001128177.1(THRB):c.67C>T (p.Arg23Ter)	THRB	Jun 01, 2016	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24190290	GCCTGGGACAAACCGAAGCACTGTCCAGACCGAGAACACGACTGGAAGCTAGTAGGAATGT
137853038	21919	NM_001429.3(EP300):c.1738C>T (p.Arg580Ter)	EP300	Feb 03, 2014	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	22	41137768	CAGTGGCACGAAGATATTACTCAGGATCTTCGAAATCATCTTGTTCACAAACTGTAAGTAA
1114167457	419135	NM_001031689.2(PLAA):c.2254C>T (p.Leu752Phe)	PLAA	Jun 21, 2017	MedGen:CN265047,OMIM:617527	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	germline	9	26905645	ACTTTTAGACTTCTTGTGGCTCTTGGAACACTTATCAGTGATGATTCAAATGCTGTACAAT
794728156	197018	NM_004415.3(DSP):c.151C>T (p.Gln51Ter)	DSP	Feb 10, 2012	MedGen:CN517202	not provided	germline	6	7542066	TACTATTCTCGGCGCGGCGTGATCACCGACCAGAACTCGGACGGCTACTGGTGGGTACCTG
62636495	53427	NM_001927.3(DES):c.38C>T (p.Ser13Phe)	DES	Jul 22, 2015	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Myofibrillar myopathy 1;Primary dilated cardiomyopathy;not provided	germline	2	219418500	AGGCCTACTCGTCCAGCCAGCGCGTGTCCTCCTACCGCCGCACCTTCGGCGGGGCCCCGGG
-1	441960	NM_002087.3(GRN):c.898C>T (p.Gln300Ter)	GRN	Aug 17, 2016	MedGen:CN517202	not provided	germline	17	44351425	TGCCCAGATGGCTATACCTGCTGCCGTCTACAGTCGGGGGCCTGGGGCTGCTGCCCTTTTA
387907100	40046	NM_012469.3(PRPF6):c.2185C>T (p.Arg729Trp)	PRPF6	May 13, 2011	MedGen:C3151434,OMIM:613983	Retinitis pigmentosa 60	germline	20	64027138	GAGGAGCAGAAGGAGATGATGGAGAAGGCGCGGGAAGCCTATAACCAGGGGGTACGTCTCT
-1	482170	NM_014646.2(LPIN2):c.1594C>T (p.Gln532Ter)	LPIN2	Dec 06, 2017	MedGen:CN517202	not provided	germline	18	2928617	GCTTTGGCAGCTCCCATGATCCTTAGCTTGCAAGTATTCCAGAAGAGCTTGCCTAAGGTGA
369083541	181587	NM_002427.3(MMP13):c.325C>T (p.Arg109Ter)	MMP13	Feb 01, 2015	MedGen:C0432225,OMIM:250400,Orphanet:ORPHA2501,SNOMED CT:254084008	Metaphyseal chondrodysplasia, Spahr type	germline	11	102955289	CCTGATGTGGGTGAATACAATGTTTTCCCTCGAACTCTTAAATGGTCCAAAATGAATTTAA
754786301	271291	NM_001297.4(CNGB1):c.2128C>T (p.Gln710Ter)	CNGB1	Apr 14, 2016	MedGen:C3151066,OMIM:613767	Retinitis pigmentosa 45	germline	16	57917306	CTCATCTACTTCCTGGACATCACCGTGTTCCAGACACGCCTGCAGTTTGTCAGAGGCGGGG
267607059	31159	NM_006516.2(SLC2A1):c.1402C>T (p.Arg468Trp)	SLC2A1	Oct 01, 2009	MedGen:C3149117	GLUT1 deficiency syndrome 1, autosomal recessive	germline	1	42927118	CGGACCTTCGATGAGATCGCTTCCGGCTTCCGGCAGGGGGGAGCCAGCCAAAGTGACAAGA
397507540	49022	NM_002834.4(PTPN11):c.1472C>T (p.Pro491Leu)	PTPN11	Oct 17, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline;unknown	12	112489048	TCGTAGGTGTTGACTGCGATATTGACGTTCCCAAAACCATCCAGATGGTGCGGTCTCAGAG
-1	446266	NM_004975.3(KCNB1):c.916C>T (p.Arg306Cys)	KCNB1	Jul 25, 2017	MedGen:CN517202	not provided	germline	20	49374644	GTCCAGATCTTCCGCATCATGCGAATTCTCCGCATCCTTAAGCTTGCACGCCACTCCACTG
878854618	243806	NM_004006.2(DMD):c.1504C>T (p.Gln502Ter)	DMD	Jan 23, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32595855	ATCTTTCAGGTGCTTCAAGAAGATCTAGAACAAGAACAAGTCAGGGTCAATTCTCTCACTC
121909390	16346	NM_001174089.1(SLC4A11):c.1765C>T (p.Arg589Ter)	SLC4A11	Mar 01, 2008	MedGen:C0544008	Corneal endothelial dystrophy	germline	20	3229430	GTCCCCAGCCCCTACCTGCACCCCTGCGTGCGAGAGATCCTGTCCGACTGCGCCCTGCCCA
387907026	39802	NM_001029871.3(RSPO4):c.301C>T (p.Gln101Ter)	RSPO4	Apr 01, 2008	MedGen:C0265998,OMIM:206800,Orphanet:ORPHA79143,SNOMED CT:23610003	Anonychia	germline	20	967282	TGTGGGGCCACTTGTGAGAGCTGCTTCAGCCAGGACTTCTGCATCCGGTGCAAGAGGCAGT
-1	453349	NM_000320.2(QDPR):c.344C>T (p.Ser115Leu)	QDPR	Aug 24, 2016	MedGen:C0268465,OMIM:261630,Orphanet:ORPHA226,SNOMED CT:58256000	Dihydropteridine reductase deficiency	germline	4	17501811	ACCTGATGTGGAAGCAGAGCATATGGACATCGACCATCTCCAGCCATCTGGCTACCAAGCA
267606736	23985	NM_001278.4(CHUK):c.1264C>T (p.Gln422Ter)	CHUK	Oct 21, 2010	MedGen:C3150891,OMIM:613630,Orphanet:ORPHA465824	Cocoon syndrome	germline	10	100205167	CAGGACAGCAAAATACAGCTTCCAATTATACAGCTGCGTAAAGTGTGGGCTGAAGCAGTGC
786204849	187243	NM_198897.1(FIBP):c.673C>T (p.Gln225Ter)	FIBP	Sep 15, 2016	Human Phenotype Ontology:HP:0000589,MedGen:C0009363,OMIM:120200,Orphanet:ORPHA194,SNOMED CT:92828000,SNOMED CT:93390002;Human Phenotype Ontology:HP:0001176,MedGen:C0426870;Human Phenotype Ontology:HP:0000256,MedGen:C2243051,OMIM:248000;Human Phenotype Ontology:HP:0001548,MedGen:C1849265;MedGen:C4310715,OMIM:617107;MedGen:C0266617;MedGen:CN229495	Congenital ocular coloboma;Large hands;Macrocephaly;Overgrowth;Thauvin-Robinet-Faivre syndrome;facial dysmorphism;learning disabilities	germline;inherited	11	65885181	CCCCACCCCCTTCATGGCCTCACAGACTCACAGATGGATGACATGGACATGGACTTAGACA
886040971	263045	NM_014112.4(TRPS1):c.1630C>T (p.Arg544Ter)	TRPS1	Apr 19, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006;MedGen:C0432233,OMIM:190350,SNOMED CT:254091006;MedGen:C1860823,OMIM:190351;MedGen:CN517202	Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome type 3;not provided	de novo;germline	8	115604339	ACGAGCTATAATTGTCAGTTCTGTGACTTCCGATATTCCAAAAGCCATGGCCCTGATGTAA
587776765	27317	NM_000463.2(UGT1A1):c.145C>T (p.Gln49Ter)	UGT1A1	Mar 01, 1998	MedGen:C0010324,OMIM:218800,Orphanet:ORPHA79234	Crigler Najjar syndrome, type 1	germline	2	233760432	CACTGGCTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTG
886039425	259695	NM_015702.2(MMADHC):c.472C>T (p.Arg158Ter)	MMADHC	Jun 23, 2016	MedGen:CN517202	not provided	germline	2	149576443	TGTGCAATACAGACATGTCCAGAATTGCTGCGAAAAGGTATGTCATGCTTTATACTTTGAA
132630297	26102	NM_001015877.1(PHF6):c.1024C>T (p.Arg342Ter)	PHF6	Jun 09, 2016	MedGen:C0265339,OMIM:301900,SNOMED CT:21634003	Borjeson-Forssman-Lehmann syndrome	germline;maternal	X	134425256	AATGATGAGAGAGATGAAGAAGATGAGGAACGAGAGAGTAAAAGCCGAGGAAAAGTAGAAA
369804864	227493	NM_001111035.2(ACP5):c.131C>T (p.Thr44Met)	ACP5	Aug 25, 2017	MedGen:C1842763,OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	germline	19	11577187	GGGGAGGGGTCCCCAATGCCCCATTCCACACGGCCCGGGAAATGGCCAATGCCAAGGAGAT
104894270	21059	NM_004551.2(NDUFS3):c.595C>T (p.Arg199Trp)	NDUFS3	Dec 04, 2012	MedGen:C1838951;MedGen:C1838979,OMIM:252010	Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency	germline	11	47582436	ACAGATTATGGCTTCGAGGGACATCCTTTCCGGAAAGACTTTCCTCTATCTGGCTATGTTG
398123105	98231	NM_000033.3(ABCD1):c.1679C>T (p.Pro560Leu)	ABCD1	Oct 14, 2016	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153740618	TGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGG
148936893	125899	NM_001282227.1(ADA2):c.626C>T (p.Pro209Leu)	ADA2	Mar 06, 2014	MedGen:C3887654,OMIM:615688	Polyarteritis nodosa, childhoood-onset	germline	22	17203564	TCTACATGGAGATCAGAGCCAGGCTGCTGCCGGTGAGCCCAGCTCTCCTCTCTGTTCCTCC
1131691568	421478	NM_000901.4(NR3C2):c.1768C>T (p.Arg590Ter)	NR3C2	Oct 01, 2015	MedGen:CN517202	not provided	germline	4	148260107	ATCTCAATTTCTTTCCCCAGCTCTACTTTACGAAGTGTTTCTACTGGATCTTCAAGACCTT
-1	440224	NM_015359.5(SLC39A14):c.367C>T (p.Gln123Ter)	SLC39A14	Mar 13, 2017	MedGen:C4310765,OMIM:617013	Hypermanganesemia with dystonia 2	germline	8	22408406	GAGCTCCAGGAGTTCTGCCCCACCATCCTCCAGCAGCTGGATTCCCGGGCCTGCACCTCGG
876660130	233049	NM_000038.5(APC):c.1999C>T (p.Gln667Ter)	APC	Jan 19, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112837593	AGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAG
757520757	259725	NM_173076.2(ABCA12):c.1300C>T (p.Arg434Ter)	ABCA12	Apr 21, 2016	MedGen:CN517202	not provided	germline	2	215019784	TTTTCCCTTTTTGGAAAGCTGTCTCAACTTCGAAACTTGACCGAACTTCTTTGTGAATCTG
587784157	168230	NM_022455.4(NSD1):c.5800C>T (p.Gln1934Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177280742	GTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGG
121918788	79490	NM_006920.4(SCN1A):c.2758C>T (p.Arg920Cys)	SCN1A	Feb 01, 2017	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	germline	2	166037931	TGCAAGATCGCCAGTGATTGTCAACTCCCACGCTGGCACATGAATGACTTCTTCCACTCCT
869312757	226316	NM_004656.3(BAP1):c.1063C>T (p.Gln355Ter)	BAP1	Nov 20, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	52405163	GGGGTTCACCCCAACCCCACTCCCATTGTCCAGCGGCTGCCGGCCTTTCTAGACAATCACA
1060502621	404209	NM_004006.2(DMD):c.8209C>T (p.Gln2737Ter)	DMD	Sep 26, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31627681	GACTCCAAGGGAGTAAAAGAGCTGATGAAACAATGGCAAGTAAGTCAGGCATTTCCGCTTT
-1	411581	NM_004984.3(KIF5A):c.610C>T (p.Arg204Trp)	KIF5A	Mar 07, 2017	MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006	Hereditary spastic paraplegia	inherited	12	57567514	GCTCCTGCAGACATGAATGAACACAGCTCTCGGAGCCACAGCATCTTCCTCATCAACATCA
587777103	102964	NM_001013703.3(EIF2AK4):c.3802C>T (p.Gln1268Ter)	EIF2AK4	Feb 12, 2014	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	40016544	TACAAGTTTATTGAACAGAAGGGAGATTTGCAAGATCTTATGCCAACAATAAATTCATTAA
55868108	405656	NM_000751.2(CHRND):c.127C>T (p.Arg43Trp)	CHRND	Mar 01, 2017	MedGen:CN517202	not provided	germline	2	232526603	TTTCAAGAGAAGGGCTACAACAAGGAGCTCCGGCCCGTGGCACACAAAGAGGAGAGTGTGG
61752895	28153	NM_000329.2(RPE65):c.700C>T (p.Arg234Ter)	RPE65	Oct 01, 1997	MedGen:C1859844,OMIM:204100;MedGen:CN517202	Leber congenital amaurosis 2;not provided	germline	1	68439586	GAGATCGTTGTACAATTCCCCTGCAGTGACCGATTCAAGCCATCTTACGTTCATAGGTAAC
1085308053	416946	NM_000314.6(PTEN):c.605C>T (p.Thr202Ile)	PTEN	Mar 01, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	PTEN hamartoma tumor syndrome	de novo	10	87952230	CACTGTTGTTTCACAAGATGATGTTTGAAACTATTCCAATGTTCAGTGGCGGAACTTGCAG
782397980	206662	NM_032436.3(CHAMP1):c.1489C>T (p.Arg497Ter)	CHAMP1	Mar 12, 2015	MedGen:C4225275,OMIM:616579	Mental retardation, autosomal dominant 40	germline	13	114325331	GAGCCTCAGAAACCTGTCTTCCCTGAGACCCGAAAACCAGGTCCTTCTGGGCCATCTGAGT
-1	464033	NM_005249.4(FOXG1):c.214C>T (p.Gln72Ter)	FOXG1	Jun 22, 2017	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	germline	14	28767493	GCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCAC
142017360	425005	NM_000384.2(APOB):c.4651C>T (p.Gln1551Ter)	APOB	Mar 01, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21012217	ACCCTCTCCCTCACCTCCACCTCTGATCTGCAAAGTGGCATCATTAAAAATACTGCTTCCC
281874676	35783	NM_000495.4(COL4A5):c.1738C>T (p.Gln580Ter)	COL4A5	Feb 16, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108597527	GGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGCTTCCTGGCCCGA
762354041	400610	NM_000057.3(BLM):c.2875C>T (p.Arg959Ter)	BLM	Dec 14, 2016	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006	Bloom syndrome	germline	15	90790700	TTTGGAATGGGGATTGACAAACCGGACGTGCGATTTGTGATTCATGCATCTCTCCCTAAAT
202140402	414413	NM_001013703.3(EIF2AK4):c.745C>T (p.R249*)	EIF2AK4	-	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	39961785	CAAATGTATTGTTCAAATTTATTTTTAAGGCGAGAACGTCAGTATTCTGTATGTAATAGTG
796052811	203924	NM_001184880.1(PCDH19):c.1031C>T (p.Pro344Leu)	PCDH19	Jul 31, 2014	MedGen:CN517202	not provided	germline	X	100407567	TCAGCGTGCTGGACACCAATGACAATCCGCCGGTCATCAACCTGCTGTCAGTCAACAGTGA
757160222	262659	NM_017780.3(CHD7):c.5833C>T (p.Arg1945Ter)	CHD7	Oct 21, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60852186	ATGAAGACTGACCGGCGCAGACGGCGGCCTCGAGAGGAAGTGAGAGCTCTGGAAGCGGAAA
121908425	20379	NM_153717.2(EVC):c.1018C>T (p.Arg340Ter)	EVC	Jun 01, 2017	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005;MedGen:C0024507,OMIM:263520,SNOMED CT:72922008;MedGen:CN517202	Chondroectodermal dysplasia;Short rib-polydactyly syndrome, Majewski type;not provided	germline;unknown	4	5748226	GACCAGTTTAAGTGTTCCAGCTCCAAAGCCCGACAGCTGATGATGACTCTGACGGAAAGAA
746867724	214299	NM_019892.5(INPP5E):c.1577C>T (p.Pro526Leu)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136431090	CAGGGTCCATCTTCAAGGGCTTCCAGGAGCCGGACATCCACTTCCTCCCATCATACAAGTT
121918242	16463	NM_015506.2(MMACHC):c.331C>T (p.Arg111Ter)	MMACHC	Nov 02, 2016	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26;MedGen:CN517202	Methylmalonic acidemia with homocystinuria;not provided	germline;unknown	1	45508266	ATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAG
376103091	48386	NM_001083614.1(EARS2):c.322C>T (p.Arg108Trp)	EARS2	May 22, 2017	MedGen:C3554079,OMIM:614924,Orphanet:ORPHA314051;MedGen:CN517202	Combined oxidative phosphorylation deficiency 12;not provided	germline;unknown	16	23544677	CCAGGCATCCCGCCTGATGAGAGCCCCCGCCGGGGCGGTCCTGCTGGGCCCTACCAGCAAT
794727165	191759	NM_000404.3(GLB1):c.1768C>T (p.Arg590Cys)	GLB1	Jun 25, 2014	MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002;MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	germline	3	32997311	CAGGTCTGGATTAATGGCTTTAACCTTGGCCGCTATTGGCCAGCCCGGGGCCCTCAGTTGA
1057524293	368235	NM_005219.4(DIAPH1):c.2794C>T (p.Arg932Ter)	DIAPH1	Jan 05, 2017	MedGen:CN517202	not provided	germline	5	141528926	TGTGTTCTTTACTAGATGGGCACTGTGCCCCGACTGCGGCCTCGCCTCAATGCCATTCTCT
398123973	100546	NM_004006.2(DMD):c.4996C>T (p.Arg1666Ter)	DMD	Jun 19, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Duchenne muscular dystrophy;not provided	germline	X	32365049	CTGAATAGTAACTGGATAGCTGTCACCTCCCGAGCAGAAGAGTGGTTAAATCTTTTGTTGG
1131690786	421144	NM_001008222.2(ZDHHC9):c.286C>T (p.Arg96Trp)	ZDHHC9	Apr 04, 2017	MedGen:C2749033,OMIM:300799	Mental retardation, X-linked, syndromic, Raymond type	de novo	X	129829023	ACCAGCTTCAGTGACCCTGGAGTGATTCCTCGGGCGCTACCAGATGAAGCAGCTTTCATAG
121917731	29241	NM_001085377.1(MCC):c.2663C>T (p.Ala888Val)	MCC	Mar 15, 1991	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	5	113043623	TGGAATGTGTTTGCTGTTGTCAGGAGTGTGCTGATGCTGCCTCCCCAGCTCTGTCCCTAGC
863224147	212019	NM_000284.3(PDHA1):c.1132C>T (p.Arg378Cys)	PDHA1	Jul 18, 2017	MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243;MedGen:CN517202	Pyruvate dehydrogenase E1-alpha deficiency;not provided	de novo;germline	X	19359612	ATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGT
397507717	66309	NM_000059.3(BRCA2):c.439C>T (p.Gln147Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32326114	GCTTTGTTTTATTTTAGTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATA
63750666	23887	NM_000447.2(PSEN2):c.1289C>T (p.Thr430Met)	PSEN2	Aug 01, 2003	MedGen:C1847200,OMIM:606889;MedGen:CN517202	Alzheimer disease, type 4;not provided	germline	1	226895521	TCACGTTCGGGCTCATCTTTTACTTCTCCACGGACAACCTGGTGCGGCCGTTCATGGACAC
397508002	67326	NM_000059.3(BRCA2):c.8680C>T (p.Gln2894Ter)	BRCA2	Nov 01, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	13	32376717	TATTTACCATCACGTGCACTAACAAGACAGCAAGTTCGTGCTTTGCAAGATGGTGCAGAGC
886041781	264026	NM_001029882.3(AHDC1):c.2908C>T (p.Gln970Ter)	AHDC1	May 13, 2016	MedGen:CN517202	not provided	germline	1	27549208	ACCCACCCGCCTGCCAACACCTACCTGCCCCAGTACGGCGGCTATGGGGCCGGACAAAGCG
766862122	481823	NM_017780.3(CHD7):c.6199C>T (p.Gln2067Ter)	CHD7	Jan 29, 2018	MedGen:CN517202	not provided	germline	8	60852924	CGCATTGAGCTGCTACGGAAGATCCGCGAGCAGGTTCTCCATCACCCCCAGCTGGGAGAGA
387906692	38862	NM_002734.4(PRKAR1A):c.1102C>T (p.Arg368Ter)	PRKAR1A	Apr 06, 2012	MedGen:C3276228,OMIM:101800	Acrodysostosis 1 with or without hormone resistance	germline	17	68530405	GTTCTTGGCCCATGCTCAGACATCCTCAAACGAAACATCCAGCAGTACAACAGTTTTGTGT
758775001	272150	NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter)	LAMA2	Aug 10, 2017	MedGen:CN117977;MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Laminin alpha 2-related dystrophy;Merosin deficient congenital muscular dystrophy	germline	6	129391535	GCTATAAAACTAAATGAAACTCTAGGAACTCGAGACGAGGCCTTTGAGAGAAATTTGGAAG
773684291	214363	NM_017777.3(MKS1):c.1208C>T (p.Ser403Leu)	MKS1	Sep 01, 2016	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:CN517202	Joubert syndrome;not provided	germline;unknown	17	58207959	AGTGGCCTGTGCTCTACTGTGAGGTCCTCTCGCTGGACTTCTGGCAGAGGTACCGTGTGGA
121434572	31609	NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter)	ERCC5	Apr 01, 1997	MedGen:C1968561	Xeroderma pigmentosum group g/Cockayne syndrome	germline	13	102861621	GAAATGAATCAGCAACATTCAGGACACATCCGAAGGCAGTATGAAGATGAAGGGGGCTTTC
398123929	100476	NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter)	DMD	Feb 03, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32468509	CAAAAGCTAGAGGAGCAAATGAATAAACTCCGAAAAATTCAGGTAATTCAAGATTTTACTT
141210410	439707	NM_005956.3(MTHFD1):c.517C>T (p.Arg173Cys)	MTHFD1	Nov 21, 2017	MedGen:CN635903,OMIM:617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	germline	14	64417926	ATTGCCGGAAGGCATGCTGTGGTGGTTGGGCGCAGTAAAATAGTTGGGGCCCCGATGCATG
397514585	48368	NM_001866.2(COX7B):c.55C>T (p.Gln19Ter)	COX7B	Dec 10, 2012	MedGen:C3550921,OMIM:300887	Linear skin defects with multiple congenital anomalies 2	germline	X	77902657	TTCGTTTTCCTGTAAGTTCGAAGCATTCAGCAAACAATGGCAAGGCAGAGCCACCAGAAAC
796052117	200885	NM_031924.5(RSPH3):c.616C>T (p.Gln206Ter)	RSPH3	Jul 02, 2015	MedGen:C4225311,OMIM:616481	Ciliary dyskinesia, primary, 32	germline	6	158993853	AGGGTAATTCGAGGTAACACTTATGCACTCCAGACAGGGCCACTGGTAAGTTCAGTTTGAA
199472724	67774	NM_000218.2(KCNQ1):c.794C>T (p.Thr265Ile)	KCNQ1	Jun 28, 2012	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2572859	TGTGTTTTCTGGCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTT
397508461	68268	NM_000492.3(CFTR):c.292C>T (p.Gln98Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117530917	CCCCTTTTGTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTT
786204815	187166	NM_014795.3(ZEB2):c.1027C>T (p.Arg343Ter)	ZEB2	Mar 02, 2015	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline;unknown	2	144400160	AAATGTATTGGTTTAATCTCTGTAAATGGCCGAATGAGAAACAATATCAAGACGGGTTCTT
118204053	15784	NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	germline;unknown	4	15559183	TTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAAC
5030825	420456	NM_000551.3(VHL):c.583C>T (p.Gln195Ter)	VHL	Dec 06, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	10149906	TACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGC
386134263	45326	NM_000475.4(NR0B1):c.1141C>T (p.Leu381Phe)	NR0B1	Sep 20, 2017	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308223	CTGAACATCAGTACCAAGGAGTACGCCTACCTCAAGGGGACCGTGCTCTTTAACCCGGGTA
200731870	442935	NM_001271208.1(NEB):c.25441C>T (p.Arg8481Ter)	NEB	Sep 01, 2017	MedGen:CN517202	not provided	germline	2	151490039	CATGCAAAAACCACAGAGCTCCCACAACAACGATCATCTTCAGTTGCTACCCAACAGACAA
398123061	76995	NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp)	FBXL4	Aug 10, 2017	Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897;MedGen:C0162666,SNOMED CT:447292006;MedGen:CN517202	Global developmental delay;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);Mitochondrial encephalomyopathy;not provided	germline	6	98875673	AGCATGATAGGAGCCAAGTGTAAAAAACTCCGGACCCTGGATCTGTGGAGATGTAAGAATA
587784107	168170	NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter)	NSD1	Apr 25, 2017	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177238279	TGTGAAGAGGAAAGCCTTCTAGCCCGAGGTCGATCTAGTGCTCAGAACAAGCAGGTGGACG
149660944	181559	NM_001127895.1(CHST8):c.229C>T (p.Arg77Trp)	CHST8	Apr 01, 2012	MedGen:C4015729,OMIM:616265,Orphanet:ORPHA263548	Peeling skin syndrome 3	germline	19	33772017	GACTTGAAGGAACCCACAGAGAGGGTCACTCGGGACTTATCCAGTGGGGCCCCGAGGGGCC
121912608	17032	NM_182896.2(ARL13B):c.598C>T (p.Arg200Cys)	ARL13B	Feb 23, 2015	MedGen:C2676771,OMIM:612291	Joubert syndrome 8	germline;unknown	3	94036663	ATTGCAAGAGACTTTGATGCCTTAAATGAACGCATCCAAAAAGAGACAACAGAGCAGCGTG
72554304	103261	NM_000531.5(OTC):c.94C>T (p.Gln32Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367307	ATCTCTTTTTACAGGTGTGGACAACCACTACAAAATAAAGTGCAGCTGAAGGGCCGTGACC
80358757	66510	NM_000059.3(BRCA2):c.5344C>T (p.Gln1782Ter)	BRCA2	Apr 22, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32339699	ATTGAGCCAGTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTCCAAAGTAATAT
199422195	34487	NM_018136.4(ASPM):c.9730C>T (p.Arg3244Ter)	ASPM	Aug 08, 2016	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197090295	CTAAGTCTTCAAGTTGTTAATAGGGAGATTCGAGAAGAAAACAAACTCTACAAAAGAACTG
550254092	262353	NM_004937.2(CTNS):c.382C>T (p.Gln128Ter)	CTNS	Oct 06, 2016	MedGen:CN035091,Orphanet:ORPHA213,SNOMED CT:190681003	Cystinosis	germline	17	3655273	ATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCT
-1	427481	NM_001009944.2(PKD1):c.6307C>T (p.Gln2103Ter)	PKD1	Jun 17, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	16	2108860	CACTGGGACTTTGGGGATGGGTCGCCAGGGCAGGACACAGATGAGCCCAGGGCCGAGCACT
869025660	224953	NM_000551.3(VHL):c.470C>T (p.Thr157Ile)	VHL	Feb 26, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10149793	AGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCG
387907267	45725	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3	Nov 03, 2017	MedGen:CN230736;MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47335120	GACCTGCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTG
1060502054	397976	NM_005097.3(LGI1):c.688C>T (p.Gln230Ter)	LGI1	Dec 20, 2016	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046	Epilepsy, lateral temporal lobe, autosomal dominant	germline	10	93793200	TTTCCTATTTTTGCAGAATTTGCAAAGTCTCAAGACCTGCCTTATCAATCATTGTCCATAG
886039268	259372	NM_001242896.1(DEPDC5):c.3802C>T (p.Arg1268Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31876262	TACAAGATAGTAACGGACAAAGAGCCCGACCGAGGTTAGAGCCGAGGCGAATGCGGTTGCC
80358998	67063	NM_000059.3(BRCA2):c.772C>T (p.Gln258Ter)	BRCA2	May 11, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32331009	GCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCT
587779398	106585	NM_000147.4(FUCA1):c.464C>T (p.Ser155Phe)	FUCA1	-	MedGen:C0016788,OMIM:230000,Orphanet:ORPHA349,SNOMED CT:64716005	Fucosidosis	inherited	1	23865551	GGCCGAGTCCTGTGTCTTGGAACTGGAACTCCAAAGACGTGGGGCCTCATCGGGATTTGGT
121908651	21348	NM_030761.4(WNT4):c.341C>T (p.Ala114Val)	WNT4	Jan 01, 2008	MedGen:C2678492,OMIM:611812,Orphanet:ORPHA139466	Serkal syndrome	germline	1	22121549	CAGGGACTCGGGAGGCGGCCTTCGTGTACGCCATCTCTTCGGCAGGTGTGGCCTTTGCAGT
387906223	15312	NM_173546.2(KLHDC8B):c.-158C>T	KLHDC8B	Sep 01, 2009	Human Phenotype Ontology:HP:0012189,MedGen:C0019829,OMIM:236000,Orphanet:ORPHA98293	Hodgkin lymphoma	germline	3	49171662	CAACGGAGGCGGAACGGCGGACCCCGTACCCTGGCAGCATCGGAGCACCGGCGGGTGAGTC
61748550	104925	NM_000350.2(ABCA4):c.1222C>T (p.Arg408Ter)	ABCA4	May 15, 2017	MedGen:C3495438,OMIM:153800;MedGen:C1858806,OMIM:604116;MedGen:C1866422,OMIM:601718;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Age-related macular degeneration 2;Cone-rod dystrophy 3;Retinitis pigmentosa 19;Stargardt disease 1;not provided	germline	1	94079339	ATCCTGTACACTCCTGATTCACCTGCAGCACGAAGGATACTGAAGAATGTAAGATCCCAGC
121918279	17511	NM_207122.1(EXT2):c.514C>T (p.Gln172Ter)	EXT2	Mar 16, 2016	MedGen:C1851413,OMIM:133701;MedGen:CN517202	Multiple exostoses type 2;not provided	germline	11	44108226	CAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTATCTCA
45472701	59112	NM_000548.4(TSC2):c.5170C>T (p.Gln1724Ter)	TSC2	Jan 20, 2015	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2088236	ACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCG
886041158	263993	NM_024529.4(CDC73):c.226C>T (p.Arg76Ter)	CDC73	Oct 20, 2016	MedGen:CN517202	not provided	germline	1	193125206	AACGTGCACCTTTCTCATCCTGTTTATGTCCGACGTGCAGCTGTAAGTAGAATTCATTTTA
1057524308	364430	NM_020699.3(GATAD2B):c.1045C>T (p.Gln349Ter)	GATAD2B	Jan 11, 2017	MedGen:CN517202	not provided	germline	1	153816444	CCCAGCGCCATGACTGATGCTGCCAACTCACAGGCTGCAGCCAAATTGGCTCTTCGCAAAC
45517352	58468	NM_000548.4(TSC2):c.4573C>T (p.Gln1525Ter)	TSC2	Nov 20, 2014	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2085233	GCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCG
104894563	27038	NM_000151.3(G6PC):c.883C>T (p.Arg295Cys)	G6PC	Jul 08, 2016	MedGen:C2919796,OMIM:232200;MedGen:C0017920,SNOMED CT:7265005	Glycogen storage disease type 1A;Glycogen storage disease, type I	germline;unknown	17	42911235	AAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCC
72653776	426994	NM_001171.5(ABCC6):c.1781C>T (p.Ala594Val)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16187210	TGGGTGACCTGCGGCTTCGGTTTTCCTAGGCCCGGGTGTCCTTTGACCGTCTGGTCACCTT
1085307634	415540	NM_002615.6(SERPINF1):c.295C>T (p.Arg99Ter)	SERPINF1	Apr 16, 2017	MedGen:CN517202	not provided	germline	17	1771040	ACATCCTTGTCTCTGGCAGGAGCGGAGCAGCGAACAGAATCCATCATTCACCGGGCTCTCT
587783510	169210	NM_004380.2(CREBBP):c.6088C>T (p.Gln2030Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3728959	CAGTGGCAGCAGGCGCCCCTTCCCCAGCAGCAGCCCATGCCAGGCTTGCCCAGGCCTGTGA
376603775	244622	NM_000051.3(ATM):c.5623C>T (p.Arg1875Ter)	ATM	Sep 18, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108304801	CATGTTCAGGGATTTTTCACCAGCTGTCTTCGACACTTCTCGCAAACGAGCCGATCCACAA
118192194	34639	NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu)	KCNQ2	Oct 11, 2017	MedGen:C1852587,OMIM:121200;MedGen:CN517202	Benign familial neonatal seizures 1;not provided	germline	20	63446769	TTTCCACCATCAAGGAGTATGAGAAGAGCTCGGAGGGGGCCCTCTACATCCTGGTGAGCCC
121908063	19193	NM_000173.6(GP1BA):c.217C>T (p.Leu73Phe)	GP1BA	Jan 15, 1992	MedGen:C2750610,OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	germline	17	4932821	TCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGC
72645318	260186	NM_000088.3(COL1A1):c.757C>T (p.Arg253Ter)	COL1A1	Aug 15, 2016	MedGen:CN517202	not provided	germline	17	50197057	CTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTG
397514689	59369	NM_000789.3(ACE):c.2371C>T (p.Arg791Ter)	ACE	Jun 14, 2017	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001;MedGen:CN517202	Renal dysplasia;not provided	germline	17	63488713	GAAGACCTGTTATGGGCATGGGAGGGCTGGCGAGACAAGGCGGGGAGAGCCATCCTCCAGT
767716511	455020	NM_001369.2(DNAH5):c.13426C>T (p.Arg4476Ter)	DNAH5	Apr 04, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13701349	AGCCAGTTTACCTCGTGGGTTTTCAATGGCCGACCTCACTGCTTTTGGATGACGGGTTTTT
-1	433113	NM_000020.2(ACVRL1):c.1355C>T (p.Pro452Leu)	ACVRL1	Aug 15, 2016	MedGen:CN169374	not specified	germline	12	51919093	TGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCC
727505006	176130	NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter)	FBN1	Dec 19, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48487402	GATGAGTGTCAGAGAGATCCTCTCCTATGCCGAGGTGGTGTTTGCCATAACACAGAGGGAA
267608525	153428	NM_004992.3(MECP2):c.784C>T (p.Gln262Ter)	MECP2	Oct 10, 2013	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	germline;unknown	X	154031044	GGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGC
111033613	25153	NM_000132.3(F8):c.5122C>T (p.Arg1708Cys)	F8	May 01, 1992	na;MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	FACTOR VIII (EAST HARTFORD);Hereditary factor VIII deficiency disease	germline	X	154928668	ATTTATGATGAGGATGAAAATCAGAGCCCCCGCAGCTTTCAAAAGAAAACACGACACTATT
63749849	96029	NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter)	MSH2	Oct 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided	germline;unknown	2	47429812	AGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGA
121908476	20850	NM_139025.4(ADAMTS13):c.1345C>T (p.Gln449Ter)	ADAMTS13	Sep 03, 2002	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133436865	GAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGC
137852517	25052	NM_000216.3(ANOS1):c.1187C>T (p.Ser396Leu)	ANOS1	Oct 20, 2006	MedGen:C1563719,OMIM:308700	Kallmann syndrome 1	germline	X	8568252	AGAGTGCAAAGGTGTCCCTTCACTTCACATCGACACATGCAACCAACAACAGTAAGTGACT
1114167629	419717	NM_000314.6(PTEN):c.328C>T (p.Gln110Ter)	PTEN	Feb 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	germline	10	87933087	CTTATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTG
61199332	27360	NC_000008.11:g.11573132C>T	BLK	Aug 25, 2009	MedGen:C3150618,OMIM:613375	Maturity-onset diabetes of the young, type 11	germline	8	11573132	CATTAAACACTTGGCCCAACTCCACCCACACATCACCCCTGAGATTAAGAAAGTGCTCTCA
886041930	265138	NM_000194.2(HPRT1):c.202C>T (p.Leu68Phe)	HPRT1	Aug 17, 2016	MedGen:CN517202	not provided	germline	X	134475248	GGAGGCCATCACATTGTAGCCCTCTGTGTGCTCAAGGGGGGCTATAAATTCTTTGCTGACC
63750459	21608	NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met)	ABCC6	Jan 01, 2015	Human Phenotype Ontology:HP:0000478,MedGen:C4316870;MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Abnormality of the eye;Pseudoxanthoma elasticum	germline;unknown	16	16163110	ACTCGTCTGTCTGCTCCCACATGGCTGAGACGTTCCAGGGCAGCACAGTGGTCCGGGCATT
747372355	234309	NM_000051.3(ATM):c.7189C>T (p.Gln2397Ter)	ATM	Aug 10, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108329120	TTTCTCTCATTAGCCCGGTTTTCAGATACTCAATACCAAAGAATTGAAAACTACATGAAAT
769266169	203488	NM_018129.3(PNPO):c.673C>T (p.Arg225Cys)	PNPO	May 04, 2015	MedGen:CN517202	not provided	germline	17	47946669	GTGATGGAGTTCTGGCAAGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGG
-1	485622	NM_000038.5(APC):c.3577C>T (p.Gln1193Ter)	APC	-	MedGen:CN517202	not provided	unknown	5	112839171	TATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTG
886039763	227575	NM_001032393.2(HNRNPH2):c.616C>T (p.Arg206Trp)	HNRNPH2	Nov 16, 2017	MedGen:C4310814,OMIM:300986;MedGen:CN517202	Mental retardation, X-linked, syndromic, Bain type;not provided	de novo;germline	X	101412604	GATCCCCCTCGAAAGCTCATGGCTATGCAGCGGCCAGGTCCCTATGATAGGCCGGGGGCTG
121917863	21561	NM_007035.3(KERA):c.937C>T (p.Arg313Ter)	KERA	Jun 01, 2004	MedGen:C1857574,OMIM:217300	Cornea plana 2	germline	12	91051468	TGTCCCAGCCCATCCATGCTGCCTGCAGAACGAGATTCCTTCAGTTATGGACCTCATCTTC
137853113	16048	NM_001031710.2(KLHL7):c.458C>T (p.Ala153Val)	KLHL7	Aug 16, 2013	MedGen:C2751986,OMIM:612943;MedGen:CN517202	Retinitis pigmentosa 42;not provided	germline	7	23140784	TCTTTCTGTGTTTAGGTATAAGTGTGCTAGCGGAGTGTCTAGATTGTCCTGAATTGAAAGC
121908687	21243	NM_003560.3(PLA2G6):c.2239C>T (p.Arg747Trp)	PLA2G6	Sep 11, 2014	MedGen:C2751842,OMIM:612953,Orphanet:ORPHA199351	Parkinson disease 14	germline	22	38112541	GATCCAGACGGGCGGGCTGTGGACCGGGCACGGGCCTGGTGCGAGATGGTCGGCATCCAGT
120074189	18177	NM_000218.2(KCNQ1):c.1760C>T (p.Thr587Met)	KCNQ1	Jul 05, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN034131,OMIM:220400;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome;not provided	germline	11	2778003	TAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGA
267607146	20041	NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)	TRPV4	Oct 05, 2016	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C2079540,OMIM:606071;Gene:8094,MedGen:C1838492,OMIM:600175,Orphanet:ORPHA1216;MedGen:C0027868,Orphanet:ORPHA68381;MedGen:C0751335,OMIM:181405,Orphanet:ORPHA431255,SNOMED CT:230248006;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 2C;Distal spinal muscular atrophy, congenital nonprogressive;Neuromuscular Diseases;Scapuloperoneal spinal muscular atrophy;not provided	germline	12	109800666	GCCCAGGGAGCTGATGTCCACGCCCAGGCCCGTGGGCGCTTCTTCCAGCCCAAGGATGAGG
863223678	210339	NM_000214.2(JAG1):c.544C>T (p.Gln182Ter)	JAG1	Jun 18, 2015	MedGen:CN517202	not provided	germline	20	10658618	CAGAACACGGGCGTTGCCCACTTTGAGTATCAGATCCGCGTGACCTGTGATGACTACTACT
864321707	217258	NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val)	KCNQ2	May 16, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 7	de novo;germline	20	63439608	CCTTCACCCTCATCGGTGTCTCCTTCTTCGCGCTGCCTGCAGTAAGTCCAGCTGCCCCTGC
398123001	97544	NM_078480.2(PUF60):c.505C>T (p.His169Tyr)	PUF60	Nov 07, 2013	MedGen:C3810023,OMIM:615583	Verheij syndrome	germline	8	143818378	GACATGTCCTGGGACTCCGTCACCATGAAGCACAAGGTCAGCAGGCTTGGTCCGCCCCGGC
387906632	38674	NM_001145661.1(GATA2):c.1009C>T (p.Arg337Ter)	GATA2	Sep 04, 2011	MedGen:C3279664,OMIM:614038,Orphanet:ORPHA3226	Lymphedema, primary, with myelodysplasia	germline	3	128483868	GGGCAGAACCGACCACTCATCAAGCCCAAGCGAAGACTGGTAGGAGCGGGCACAGGTGGCT
879254578	245639	NM_000527.4(LDLR):c.571C>T (p.Gln191Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105477	CCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCG
118204030	16533	NM_001039141.2(TRIOBP):c.3202C>T (p.Arg1068Ter)	TRIOBP	Jan 01, 2006	MedGen:C1853276,OMIM:609823	Deafness, autosomal recessive 28	germline	22	37725758	TATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCC
104895300	48324	NM_000431.3(MVK):c.500C>T (p.Pro167Leu)	MVK	Dec 23, 2016	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:CN517202	Hyperimmunoglobulin D with periodic fever;not provided	germline	12	109581523	TCCTGACTGTGTGCGAGGAGATCCCAAACCCGCTGAAGGACGGGGATTGCGTCAACAGGTA
886040983	262646	NM_017780.3(CHD7):c.2959C>T (p.Arg987Ter)	CHD7	Sep 05, 2016	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60822504	AACTTTTGTACTTCATTTTCCTCCTAAAGGCGAAACTGCATTTTAGCAGATGAAATGGGTT
587783460	169264	NM_004380.2(CREBBP):c.1063C>T (p.Gln355Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3793539	ACTGCAGATCCTGAAAAACGCAAACTGATACAGCAGCAGCTGGTTCTACTGCTTCATGCTC
886042229	265982	NM_005859.4(PURA):c.367C>T (p.Gln123Ter)	PURA	Jul 09, 2015	MedGen:C4015357,OMIM:616158	Mental retardation, autosomal dominant 31	germline	5	140114548	TACCTGGGCGACTTCATCGAGCACTACGCGCAGCTGGGCCCCAGCCAGCCGCCGGACCTGG
104894266	31729	NM_130799.2(MEN1):c.778C>T (p.Gln260Ter)	MEN1	Jan 27, 2016	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1	germline	11	64807557	CACACCGACTCGCTGGAGCTTCTGCAGCTGCAGCAGGTGAGGGCTGAGCCAATGGGGCAGG
758304537	200655	NM_138413.3(HOGA1):c.208C>T (p.Arg70Ter)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97584911	AATCTGCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTGGGACC
1064794259	410434	NM_000527.4(LDLR):c.1439C>T (p.Ala480Val)	LDLR	Feb 21, 2017	MedGen:CN517202	not provided	germline	19	11113615	GCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTG
-1	481851	NM_024757.4(EHMT1):c.508C>T (p.Gln170Ter)	EHMT1	Jul 20, 2017	MedGen:CN517202	not provided	germline	9	137717048	GGCAAAGGCAGGACTCCAAGCGCTTTTCCCCAGACGCCAGCCGCCCCACCAGCCACCCTTG
515726225	136396	NM_023110.2(FGFR1):c.2084C>T (p.Thr695Ile)	FGFR1	Oct 24, 2013	MedGen:C1563720,OMIM:147950	Kallmann syndrome 2	germline	8	38414254	CTTTCGGGGTGCTCCTGTGGGAGATCTTCACTCTGGGCGGCTCCCCATACCCCGGTGTGCC
63750267	96025	NM_000251.2(MSH2):c.1129C>T (p.Gln377Ter)	MSH2	Sep 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47429794	GTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATC
548204329	411554	NM_001244008.1(KIF1A):c.31C>T (p.Arg11Trp)	KIF1A	Mar 07, 2017	MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006	Hereditary spastic paraplegia	de novo	2	240797722	ATGGCCGGGGCTTCGGTGAAGGTGGCGGTGCGGGTCCGCCCCTTCAATTCCCGGGAAATGA
104894500	21029	NM_183235.2(RAB27A):c.352C>T (p.Gln118Ter)	RAB27A	Jul 01, 2004	MedGen:C1868679,OMIM:607624,Orphanet:ORPHA79477	Griscelli syndrome type 2	germline	15	55224004	ATAAACTTTCTTATATTAATAGGCCAGCTACAGATGCATGCATATTGTGAAAACCCAGATA
1057518906	360861	NM_000297.3(PKD2):c.145C>T (p.Gln49Ter)	PKD2	Jun 23, 2015	Human Phenotype Ontology:HP:0000113,MedGen:C0022680	Polycystic kidney dysplasia	unknown	4	88007878	AGCCTCGCCGCCCCGGGCGGCCTCTGCGAGCAGCGGGGCCTGGAGATCGAGATGCAGCGCA
786205174	187989	NM_000124.3(ERCC6):c.3904C>T (p.Gln1302Ter)	ERCC6	Jul 29, 2014	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322	Cockayne syndrome B	germline	10	49461431	GATGCCCTGAAAGCACTGAGGCTCTCTCGTCAGCGGTGTCTGGGAGCAGTGTCTGGTGTTC
1057519493	362181	NM_033004.3(NLRP1):c.197C>T (p.Ala66Val)	NLRP1	Feb 27, 2017	Gene:107988031,MedGen:C3808876,OMIM:615225,OMIM:616964;MedGen:CN517202	Palmoplantar carcinoma, multiple self-healing;not provided	germline	17	5583761	ACCTGGTGGCTCAGTATGGGGAGCAGCGGGCCTGGGACCTAGCCCTCCATACCTGGGAGCA
754768875	481582	NM_206933.2(USH2A):c.4957C>T (p.Arg1653Ter)	USH2A	Jan 19, 2018	MedGen:CN517202	not provided	germline	1	216086749	AACACAGGAGTCTTTCTGGGAGGGCTCCCGCGAAGTTATACCATCCTCAGGAAGGATCCTG
1114167619	419686	NM_000368.4(TSC1):c.2530C>T (p.Gln844Ter)	TSC1	Jun 20, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	9	132900810	TAGCTCTCAAACAGTGAGTCGGTCCAGCAGCAGATGGAGTTCTTGAACAGGCAGCTGTTGG
-1	443926	NM_020732.3(ARID1B):c.4741C>T (p.Gln1581Ter)	ARID1B	Oct 24, 2017	MedGen:CN517202	not provided	germline	6	157201335	AAGTCTCCTTTTCTGCCGTCTATGAAGATGCAGAAGGTCATGCCCACGGTCCCCACATCCC
796053366	202308	NM_003165.3(STXBP1):c.1099C>T (p.Arg367Ter)	STXBP1	Jun 02, 2017	MedGen:C0393706,Orphanet:ORPHA1934;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Early infantile epileptic encephalopathy;Epileptic encephalopathy;not provided	de novo;germline	9	127673250	CATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCC
370424081	185742	NM_173167.3(UNC45B):c.2413C>T (p.Arg805Trp)	UNC45B	Nov 01, 2014	MedGen:C4225389,OMIM:616279	Cataract 43	germline	17	35183460	CAGGAAAGGTTCTTGGCTGACGGGAATGACCGGCTGAAGCTGGTGGTGCTGCTCTGCGGGG
63751112	426815	NM_001171.5(ABCC6):c.4036C>T (p.Pro1346Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154878	CACACACTGCGCTCCAGGATCAGCATCATCCCCCAGGTGAGGCTGGTGGAGGGGGTGGGCA
587777777	166143	NM_058179.3(PSAT1):c.536C>T (p.Ser179Leu)	PSAT1	Sep 04, 2014	MedGen:C4015019,OMIM:616038	Neu-laxova syndrome 2	germline	9	78306452	AGGGAGCAGTACTGGTTTGTGACATGTCCTCAAACTTCCTGTCCAAGCCAGTGGATGTTTC
724159997	172109	NM_020461.3(TUBGCP6):c.3163C>T (p.His1055Tyr)	TUBGCP6	Jan 12, 2015	MedGen:C1855056,OMIM:251270	Microcephaly with chorioretinopathy, autosomal recessive	germline	22	50221196	CCCACCCGGCCACGGTGGAACACCCACGGGCACGTGTCTGACGCCAGCATCAGGGTCGGGG
387907112	40073	NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter)	NBEAL2	Jul 17, 2011	MedGen:C0272302,OMIM:139090,SNOMED CT:51720005	Gray platelet syndrome	germline	3	46997310	GGTATGGGTGCCCTGCTGCCCCTGCTGGAGCGAGTAGCTGCACAGCCCAAAGAGGCTGAAG
368593151	40248	NM_001101426.3(ISPD):c.802C>T (p.Arg268Ter)	ISPD	May 01, 2012	MedGen:C3553330,OMIM:614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	germline	7	16301454	AGTTTATCTGTCCTTTAGGTGACCTACAAACGAGATCTCTATGCGGCTGAATCGATTATTA
137853006	20649	NM_006017.2(PROM1):c.1117C>T (p.Arg373Cys)	PROM1	Mar 20, 2017	MedGen:C0339512,OMIM:608051,Orphanet:ORPHA319640,SNOMED CT:232050001;MedGen:C2675210,OMIM:612657;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C1863534,OMIM:603786;MedGen:CN517202	Bull's eye macular dystrophy;Cone-rod dystrophy 12;Retinal dystrophy;Stargardt disease 4;not provided	germline;unknown	4	16013299	TCCCTTAATGATATACCTGACAGAGTACAACGCCAAACCACGACTGTCGTAGCAGGTGAGA
527236135	152898	NM_206933.2(USH2A):c.2983C>T (p.Gln995Ter)	USH2A	-	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	not provided	1	216231963	TGCAAAGACCATTACTTTGGATTTGATCCTCAGACTGGAAGGTACATCTTTATAAGCTTTA
751185256	75119	NM_015697.7(COQ2):c.1159C>T (p.Arg387Ter)	COQ2	Jun 07, 2016	MedGen:CN229570,Orphanet:ORPHA35656;MedGen:C0037019,OMIM:146500,SNOMED CT:16576004	Coenzyme Q10 deficiency, primary;Shy-Drager syndrome	germline	4	83264306	GAGGATTGTTGGAATAAATTTATCTCCAACCGAACACTGGGACTAATAGTTTTTTTAGGGA
104894559	32646	NM_000717.4(CA4):c.40C>T (p.Arg14Trp)	CA4	Jun 14, 2016	MedGen:CN239354;MedGen:C1833245,OMIM:600852	Retinitis Pigmentosa, Dominant;Retinitis pigmentosa 17	germline	17	60150074	CTGCTGGCGCTCCTGGCCCTCTCCGCGGCGCGGCCATCGGCCAGTGCAGGTGAGCTCCCGG
1064422	29864	NM_020070.3(IGLL1):c.425C>T (p.Pro142Leu)	IGLL1	Jan 05, 1998	MedGen:C3150750,OMIM:613500	Agammaglobulinemia 2, autosomal recessive	germline	22	23573483	CACTGGTGTGTCTCATGAATGACTTTTATCCGGGAATCTTGACGGTGACCTGGAAGGCAGA
104893945	18471	NM_032122.4(DTNBP1):c.307C>T (p.Gln103Ter)	DTNBP1	Feb 20, 2017	MedGen:C3279756,OMIM:614076,Orphanet:ORPHA231531	Hermansky-Pudlak syndrome 7	germline	6	15627391	AGCCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGCTCCCAGCTTTAATCGCAGACTTAGAAT
137852714	18647	NM_024757.4(EHMT1):c.871C>T (p.Arg291Ter)	EHMT1	Oct 05, 2010	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Chromosome 9q deletion syndrome	germline	9	137743418	TTAGCAGCTGCAGTATCTCGGAAGAAAAAACGAAGAATGGGAACCTATAGCCTGGTTCCTA
121964854	27493	NM_152263.3(TPM3):c.502C>T (p.Arg168Cys)	TPM3	Apr 11, 2017	MedGen:CN178536;MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:CN517202	Cap myopathy 1;Congenital myopathy with fiber type disproportion;not provided	de novo;germline	1	154172972	CTATACTGGGATCTTTTCCTGTAGGTGGCTCGTAAGTTGGTGATCATTGAAGGAGACTTGG
397507908	66969	NM_000059.3(BRCA2):c.7261C>T (p.Gln2421Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32355114	AAAACTAAATCACATTTTCACAGAGTTGAACAGTGTGTTAGGAATATTAACTTGGAGGAAA
118204032	16527	NM_178170.2(NEK8):c.1273C>T (p.His425Tyr)	NEK8	Dec 15, 2012	MedGen:C3151188,OMIM:613824	Nephronophthisis 9	germline	17	28738721	TTCGGCAGCGGCAGCAATGGGTGCCTAGGCCATGGCAGCCTCACTGACATCAGCCAGGTGG
387906845	39249	NM_006015.4(ARID1A):c.2758C>T (p.Gln920Ter)	ARID1A	Mar 18, 2012	MedGen:C3553247,OMIM:614607	Mental retardation, autosomal dominant 14	germline	1	26766246	CTTAGGCCGCCAGGCTACCCCAATATGAATCAAGGGGGCATGATGGGAACTGGACCTCCTT
1085307772	415251	NM_001197104.1(KMT2A):c.9133C>T (p.Gln3045Ter)	KMT2A	Apr 06, 2017	MedGen:CN517202	not provided	germline	11	118505025	CAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTG
150832314	362581	NM_003500.3(ACOX2):c.673C>T (p.Arg225Trp)	ACOX2	Feb 20, 2017	MedGen:C4310624,OMIM:617308	Bile acid synthesis defect, congenital, 6	germline	3	58531723	CGGGGCATGCACGCTTTTATTGTGCCAATCCGGAGTCTTCAGGACCACACCCCACTGCCAG
781192528	200711	NM_024741.2(ZNF408):c.1621C>T (p.Arg541Cys)	ZNF408	Jul 15, 2015	MedGen:C4225315,OMIM:616469	Retinitis pigmentosa 72	germline	11	46705321	GATGCCTTCCCCCAGCTGCCTGAACTGCGGCGCCATCTCATCTCACACACCGGGGAGGCCC
886041181	265068	NM_000390.3(CHM):c.1138C>T (p.Gln380Ter)	CHM	Feb 16, 2016	MedGen:CN517202	not provided	germline	X	85956181	AACACTCCATTTTTGTTTCCTTTATATGGCCAAGGAGAACTCCCCCAGTGTTTCTGCAGGT
200495564	50200	NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys)	MUTYH	Aug 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3272841;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MUTYH-associated polyposis;MYH-associated polyposis;not provided	germline	1	45332446	GTGGATGGCAACGTAGCACGGGTGCTGTGCCGTGTCCGAGCCATTGGTGCTGATCCCAGCA
146262009	206566	NM_004722.3(AP4M1):c.1012C>T (p.Arg338Ter)	AP4M1	Jul 01, 2014	MedGen:C2752008,OMIM:612936	Spastic paraplegia 50, autosomal recessive	germline	7	100106278	CTCAATGTCAGGCTGCACCTCCCCCTGCCTCGAGGGGTGGTCAGGTGAGTGTGTGCACCCA
368292687	76390	NM_001651.3(AQP5):c.562C>T (p.Arg188Cys)	AQP5	Aug 08, 2013	MedGen:C1838359,OMIM:600231,Orphanet:ORPHA2337	Diffuse palmoplantar keratoderma, Bothnian type	germline	12	49964125	TACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATC
786204767	187089	NM_001199752.2(CPT1C):c.109C>T (p.Arg37Cys)	CPT1C	Mar 27, 2015	MedGen:C4225387,OMIM:616282,Orphanet:ORPHA444099	Spastic paraplegia 73, autosomal dominant	germline	19	49692361	GTGCTGCAGGAGATCTACCTCTCTGGCCTGCGCTCCTGGAAAAGGCATCTCTCACGTTTCT
121918475	28361	NM_000313.3(PROS1):c.835C>T (p.Gln279Ter)	PROS1	Jan 01, 1999	MedGen:C2676728,OMIM:612336	Protein S deficiency	germline	3	93898462	GGGAAGAAAGGATTCAAACTTGCCCAAGATCAGAAGAGTTGTGAGGTAAACATTTTACAAT
80356973	69370	NM_007294.3(BRCA1):c.2869C>T (p.Gln957Ter)	BRCA1	Oct 10, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43092662	AAAGGAGGCTCTAGGTTTTGTCTATCATCTCAGTTCAGAGGCAACGAAACTGGACTCATTA
61750612	15337	NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter)	VWF	Oct 01, 1992	MedGen:CN517202;MedGen:C1264039,OMIM:193400,Orphanet:ORPHA166078,SNOMED CT:128106003;MedGen:C1264041,Orphanet:ORPHA166096,SNOMED CT:128108002	not provided;von Willebrand disease type 1;von Willebrand disease type 3	germline	12	6013544	GCAGGCGACTCCAACGTGGTGAAGCTCCAGCGAATCGAAGACCTCCCTACCATGGTCACCT
137852453	25343	NM_000132.3(F8):c.6046C>T (p.Arg2016Trp)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154902120	GAAATGTTACCATCCAAAGCTGGAATTTGGCGGGTGGAATGCCTTATTGGCGAGCATCTAC
886039533	260307	NM_004006.2(DMD):c.9148C>T (p.Gln3050Ter)	DMD	Jul 19, 2016	MedGen:CN517202	not provided	germline	X	31348571	GAAGCCCACAGGGACTTTGGTCCAGCATCTCAGCACTTTCTTTCCAGTAAGTCATTTTCAG
886039557	259655	NM_001100.3(ACTA1):c.430C>T (p.Leu144Phe)	ACTA1	Jun 01, 2016	MedGen:CN517202	not provided	germline	1	229432580	ATGTACGTGGCCATCCAGGCCGTGCTGTCCCTCTACGCCTCCGGCAGGACCACCGGTGAGT
387907214	44138	NM_003659.3(AGPS):c.1703C>T (p.Thr568Met)	AGPS	Jan 01, 2012	MedGen:C1838612,OMIM:600121,Orphanet:ORPHA309803	Rhizomelic chondrodysplasia punctata type 3	germline	2	177521274	TGTGGGGATTTTGTTTGTTTTTTAGGGTGACGCAGACTTACGATGCAGGTGCTTGTATCTA
397518468	94307	NM_000833.4(GRIN2A):c.1592C>T (p.Thr531Met)	GRIN2A	Sep 01, 2013	MedGen:C1832814,OMIM:245570	Epilepsy, focal, with speech disorder and with or without mental retardation	germline	16	9840706	TGGTGGACTTCTCTGTGCCCTTTGTGGAAACGGGAATCAGTGTCATGGTTTCAAGAAGTAA
1057517708	359671	NM_015570.3(AUTS2):c.1483C>T (p.Arg495Ter)	AUTS2	Oct 25, 2016	MedGen:CN517202	not provided	germline	7	70766128	TCTTCTTCTCTTCCAGAGCAAGACATCTTGCGACAGGAACTGAACACTCGTTTTTTGGCCT
193921147	39155	NM_004456.4(EZH2):c.2080C>T (p.His694Tyr)	EZH2	Jan 13, 2012	MedGen:C0265210,OMIM:277590,SNOMED CT:63119004	Weaver syndrome	germline	7	148809340	CGCAAGGGTAACAAAATTCGTTTTGCAAATCATTCGGTAAATCCAAACTGCTATGCAAAAG
121912534	29446	NM_000233.3(LHCGR):c.1703C>T (p.Ala568Val)	LHCGR	Dec 01, 2000	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003	Gonadotropin-independent familial sexual precocity	germline	2	48688094	TAATGGCTACCAATAAAGATACAAAGATTGCTAAGAAAATGGCAATCCTCATCTTCACCGA
121912596	17465	NM_001875.4(CPS1):c.2359C>T (p.Arg787Ter)	CPS1	Jan 01, 2007	MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004	Congenital hyperammonemia, type I	germline	2	210608527	GATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAG
121908830	15147	NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter)	TMEM127	Jun 20, 2014	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;MedGen:C3149711	Hereditary cancer-predisposing syndrome;Pheochromocytoma;Pheochromocytoma, susceptibility to	germline	2	96254050	TGGGCTTCTGAACTCATCTTGGCCCAGCAGCAGCAGCATAAGAAGTACCATGGATCCCAGG
111033592	20203	NM_213655.4(WNK1):c.2575C>T (p.Gln859Ter)	WNK1	Oct 18, 2016	MedGen:C2752089,OMIM:201300	Hereditary sensory and autonomic neuropathy type IIA	germline	12	868046	TCCTTCCTGGAAGCCCAAACTCACCACTTCCAACCCCTGCTGAGGACTGTTGGCCAAAGTC
-1	485805	NM_000061.2(BTK):c.953C>T (p.Ser318Phe)	BTK	Sep 29, 2015	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110	Agammaglobulinemia, non-Bruton type	germline	X	101358638	ACTCCAGCAAAGCTGGCAAATATACAGTGTCTGTGTTTGCTAAATCCACAGGGTGAGTGCT
730880014	39730	NM_005461.4(MAFB):c.161C>T (p.Ser54Leu)	MAFB	Sep 19, 2014	MedGen:C2674705,OMIM:166300,Orphanet:ORPHA2774	Multicentric osteolysis nephropathy	germline	20	40688690	GGCCCTGCACACGCCTGCAGCCAGCCGGCTCGGTGTCCTCCACACCGCTCAGCACTCCGTG
-1	455360	NM_000426.3(LAMA2):c.3829C>T (p.Arg1277Ter)	LAMA2	Aug 30, 2016	MedGen:CN117977	Laminin alpha 2-related dystrophy	germline	6	129315855	TTCTCTACATATAATCCTCAAGTGATCATTCGAGGTGGGACACCTACTCATGCTAGAATTA
370715569	214740	NR_023343.1(RNU4ATAC):n.8C>T	RNU4ATAC	Nov 02, 2015	Gene:57788,MedGen:C1846059,OMIM:616651,Orphanet:ORPHA353298	Roifman syndrome	germline	2	121530887	GCAGCCCAGGGACTTTCTATTATAACCATCCTTTTCTTGGGGTTGCGCTACTGTCCAATGA
387906771	39063	NM_002052.4(GATA4):c.839C>T (p.Thr280Met)	GATA4	Nov 11, 2010	MedGen:C1842778,OMIM:607941	Atrial septal defect 2	germline	8	11750166	CCTGTGCCAACTGCCAGACCACCACCACCACGCTGTGGCGCCGCAATGCGGAGGGCGAGCC
769054713	186047	NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter)	DNAH5	Mar 28, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13777309	AATCTGATGGAAGATCTGAAGGTTTTGTATCGAACAGCTGGTCAGCAAGGCAAAGGAATCA
137852863	16633	NM_174889.4(NDUFAF2):c.139C>T (p.Arg47Ter)	NDUFAF2	Oct 01, 2005	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	5	61073136	AATGACTTTTGTCTTATAGGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATA
1131691615	421368	NM_025243.3(SLC19A3):c.464C>T (p.Ser155Leu)	SLC19A3	Sep 14, 2015	MedGen:CN517202	not provided	germline	2	227699251	GCGTCACGCTGGCCGCCTACACAGCAGGGTCGGTGCTGGCTCAACTCTTGGTATCCCTGGC
121918479	28344	NM_000506.3(F2):c.1273C>T (p.Arg425Cys)	F2	Apr 01, 1992	MedGen:C0272317,SNOMED CT:33297000	Hereditary factor II deficiency disease	germline	11	46728138	AAGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACA
796052850	203607	NM_007254.3(PNKP):c.610C>T (p.Arg204Ter)	PNKP	Feb 12, 2014	MedGen:CN517202	not provided	germline	19	49864205	ATCTTGTACCCAGAGATTCCCCGTAAGCTCCGAGAGCTGGAAGCCGAGGGCTACAAGGTAT
879253769	244035	NM_021831.5(AGBL5):c.826C>T (p.Arg276Trp)	AGBL5	Sep 06, 2017	MedGen:C4310759,OMIM:617023	Retinitis pigmentosa 75	germline	2	27055171	CTGGACTTCATCCTCCGACCTGATGATCCCCGGGCCCAAACCCTCCGTCGCCTCTTCGTCT
587777299	132069	NM_198576.3(AGRN):c.1057C>T (p.Gln353Ter)	AGRN	Jul 14, 2016	MedGen:C0751882,Orphanet:ORPHA590;MedGen:C3808739,OMIM:615120	Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 8	germline	1	1041582	CTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCA
876657385	188143	NM_153816.5(SNX14):c.2596C>T (p.Gln866Ter)	SNX14	Nov 06, 2014	MedGen:C4225355,OMIM:616354,Orphanet:ORPHA397709	Spinocerebellar ataxia, autosomal recessive 20	germline	6	85513857	TTCTGTGAAAACACTGAACCTCGCTCTCTCCAAGATAAGCAAAAAGGAGCAAAACAGACTT
138215926	359131	NM_176869.2(PPA2):c.683C>T (p.Pro228Leu)	PPA2	Nov 23, 2016	MedGen:C4310663,OMIM:617223	Sudden cardiac failure, alcohol-induced	germline	4	105399137	CAGATATTGATGATGTTAAGAAGTTCAAACCGGGTTACCTGGAAGCTACTCTTAATTGGTT
1057518185	359375	NM_014795.3(ZEB2):c.2908C>T (p.Gln970Ter)	ZEB2	Oct 24, 2016	MedGen:CN517202	not provided	germline	2	144396571	CTATCGCAGGGAGAATTGCTTGATGGAGCACAAGACTACATGTCAGGCCTAGATGATATGA
750428882	202570	NM_000391.3(TPP1):c.1015C>T (p.Arg339Trp)	TPP1	May 24, 2017	MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007;MedGen:CN517202	Neuronal ceroid lipofuscinosis;not provided	germline	11	6616375	GAGGACTCCCTCAGCAGCGCCTACATCCAGCGGGTCAACACTGAGCTCATGAAGGCTGCCG
137852741	23835	NM_001204.6(BMPR2):c.2695C>T (p.Arg899Ter)	BMPR2	Sep 01, 2000	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202556360	GACAGGAGGGAACGGCCACTAGAAGGTGGCCGAACTAATTCCAATAACAACAACAGCAATC
-1	428097	NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter)	ALMS1	Mar 21, 2017	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome	germline	2	73572759	GGTGACAGGAAAGAACTGTCCTTGGTGGACCGACTTGATCGTTTGGCTAAAATTCTTCAGA
80356515	34139	NM_001457.3(FLNB):c.4808C>T (p.Pro1603Leu)	FLNB	Oct 09, 2008	MedGen:C1835564,OMIM:150250	Larsen syndrome, dominant type	not provided	3	58136115	CCTACGGGGGTGACGACATCCCACTTTCTCCTTATCGCATCCGAGCCACACAGACGGGTGA
121918143	15698	NM_000312.3(PROC):c.631C>T (p.Arg211Trp)	PROC	Jun 01, 2014	MedGen:C2674321,OMIM:176860;MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127426180	ACAGAAGACCAAGAAGACCAAGTAGATCCGCGGCTCATTGATGGGAAGATGACCAGGCGGG
397515422	48365	NM_002465.3(MYBPC1):c.952C>T (p.Arg318Ter)	MYBPC1	Nov 21, 2012	MedGen:C3554046,OMIM:614915	Lethal congenital contracture syndrome 4	germline	12	101644783	GTGAAATGGTATAAAAATGGTCAAGAAATTCGACCCAGTACCAAGTAAGTGGGCTTTGCAA
273585617	132436	NM_001127464.2(ZNF469):c.290C>T (p.Pro97Leu)	ZNF469	-	MedGen:C1835677,OMIM:148300	Keratoconus 1	germline	16	88427760	CTGGGAAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCCTCAAG
139328569	429210	NM_000352.4(ABCC8):c.1792C>T (p.Arg598Ter)	ABCC8	Mar 07, 2017	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline	11	17430839	ACACCGCTGTTCCTGCTGTCCAGTGTGGTCCGATCTACCGTCAAAGCTCTAGTGAGGTGAG
587777079	102929	NM_015662.2(IFT172):c.4630C>T (p.Arg1544Cys)	IFT172	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C3810175,OMIM:615630	Joubert syndrome;Short-rib thoracic dysplasia 10 with or without polydactyly	germline;unknown	2	27447544	ATGCTGCTGATCGCTCATTACTATGCCACGCGCTCTGCAGCCCAGAGTGTCAAACAGCTGG
78635798	16299	NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp)	RNASEH2C	Aug 15, 2016	MedGen:C1835916,OMIM:610329;MedGen:CN517202	Aicardi Goutieres syndrome 3;not provided	germline	11	65720385	CTCGAAGTGTCGTTTCGGGGCCGCTGTCTACGGGGAGAGGAGGTGGCGGTGCCGCCTGGCC
199473284	258311	NM_198056.2(SCN5A):c.4885C>T (p.Arg1629Ter)	SCN5A	Aug 23, 2017	MedGen:CN230736;MedGen:CN517202	Cardiovascular phenotype;not provided	germline	3	38551487	CCGACGCTCTTCCGAGTCATCCGCCTGGCCCGAATAGGCCGCATCCTCAGACTGATCCGAG
121908443	20536	NM_013339.3(ALG6):c.998C>T (p.Ala333Val)	ALG6	Jun 08, 1999	MedGen:C2930997,OMIM:603147,Orphanet:ORPHA79320	Congenital disorder of glycosylation type 1C	germline	1	63419380	CCCCCCCTTTTTTCTTAAAGGTTAGCTGTGCGCTATCATTCTTTTTATTTTCTTTCCAAGT
121909494	26651	NM_005491.4(MAMLD1):c.808C>T (p.Gln270Ter)	MAMLD1	Dec 01, 2006	MedGen:C2677879,OMIM:300758	Hypospadias 2, X-linked	germline	X	150470381	ATCAGCTATTCGATTCCTTCCACCAGTAAGCAGATAGTGTCACCGAGTTCTTCAATGGCAC
61749721	26868	NM_004992.3(MECP2):c.763C>T (p.Arg255Ter)	MECP2	Jul 28, 2017	MedGen:C1845336,OMIM:300496;Gene:57790,MedGen:C1846058,OMIM:300260,Orphanet:ORPHA1762;MedGen:C1968550,OMIM:300055;MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;MedGen:CN517202;MedGen:CN169374	Autism, susceptibility to, X-linked 3;MECP2 duplication syndrome;Mental retardation, X-linked, syndromic 13;Mental retardation, X-linked, syndromic 13;Rett syndrome;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;Severe neonatal-onset encephalopathy with microcephaly;not provided;not specified	de novo;germline;unknown	X	154031065	GTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTC
104894344	20068	NM_020638.2(FGF23):c.386C>T (p.Ser129Phe)	FGF23	Oct 01, 2005	MedGen:C1876187,OMIM:211900,OMIM:610233,Orphanet:ORPHA306661	Tumoral calcinosis, familial, hyperphosphatemic	germline	12	4370713	CGCTGGAAAACGGGTACGACGTCTACCACTCTCCTCAGTATCACTTCCTGGTCAGTCTGGG
587783464	169260	NM_004380.2(CREBBP):c.1270C>T (p.Arg424Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3792041	CAAATCATCTCTCATTGGAAGAACTGCACACGACATGACTGTCCTGTTTGCCTCCCTTTGA
281875309	40300	NM_015166.3(MLC1):c.206C>T (p.Ser69Leu)	MLC1	Aug 15, 2011	MedGen:C1858854,OMIM:604004,Orphanet:ORPHA2478;MedGen:CN517202	Megalencephalic leukoencephalopathy with subcortical cysts 1;not provided	germline	22	50083145	AGAGCTGCCTCCTGGTGACCTCGGGGTTTTCGCTGTACCTGGGGAACGTGTTCCCGGCTGA
746551311	431601	NM_206933.2(USH2A):c.4222C>T (p.Gln1408Ter)	USH2A	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	1	216196582	GACATCAATATGCTTTCTGAACAATCACCTCAACAGTCTATTCCCATGGCGTTTTCACAGG
587777535	150121	NM_153648.3(SLC24A4):c.823C>T (p.Arg275Ter)	SLC24A4	Feb 07, 2013	MedGen:C4014578,OMIM:615887	Amelogenesis imperfecta, hypomaturation type IIA5	germline	14	92454034	ATGATCACCAATAAGTTTGGACCCAGGACCCGACTACGGATGGCCAGCAGGATCATCATTA
770115219	376803	NM_002693.2(POLG):c.694C>T (p.Arg232Cys)	POLG	May 18, 2015	MedGen:CN517202	not provided	germline	15	89330242	TCCTGGTGCAGCCAGCGGCTGGTGGAAGAGCGTTACTCTTGGACCAGCCAGCTGTCGCCGG
776886962	214221	NM_023073.3(CPLANE1):c.2377C>T (p.Gln793Ter)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37224655	TTAAATCGAAGAGTTCCTGAAGCTGATAGTCAGTTAACTGAAAAGATGACACATGAAGCAT
137852991	20011	NM_022437.2(ABCG8):c.1234C>T (p.Arg412Ter)	ABCG8	Jun 14, 2016	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43873809	TTTTTAAGTCGTCAGATTTCCAACGACTTCCGAGACCTGCCCACCCTCCTCATCCATGGGG
137852688	24041	NM_006563.4(KLF1):c.895C>T (p.His299Tyr)	KLF1	Sep 01, 2008	MedGen:C1292231,OMIM:111150	BLOOD GROUP--LUTHERAN INHIBITOR	germline	19	12885335	AGCTACACCAAGAGCTCCCACCTGAAGGCGCATCTGCGCACGCACACAGGTGAGGGGGCGG
148606936	263946	NM_002016.1(FLG):c.11452C>T (p.Gln3818Ter)	FLG	May 02, 2016	MedGen:CN517202	not provided	germline	1	152303434	AGTGCAAGCAGAGAAACACGTAATGAGGAACAGTCAGGAGACGGCTCCAGGCACTCAGGGT
121917825	32019	NM_021954.3(GJA3):c.560C>T (p.Pro187Leu)	GJA3	Feb 01, 2000	MedGen:C1866078,OMIM:601885	Zonular pulverulent cataract 3	germline	13	20142729	CGCTCTACCGCTGCGACCGCTGGCCCTGCCCCAACACGGTGGACTGCTTCATCTCCAGGCC
587777849	166305	NM_004975.3(KCNB1):c.1121C>T (p.Thr374Ile)	KCNB1	Mar 09, 2015	MedGen:C4015119,OMIM:616056;MedGen:CN517202	Epileptic encephalopathy, early infantile, 26;not provided	germline	20	49374439	TCCCAGCCTCTTTCTGGTGGGCCACCATCACCATGACTACTGTTGGGTATGGAGACATCTA
-1	481835	NM_002316.3(LMX1B):c.736C>T (p.Arg246Ter)	LMX1B	Nov 13, 2017	MedGen:CN517202	not provided	germline	9	126693318	GCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGC
878853171	237573	NM_001168272.1(ITPR1):c.4654C>T (p.Gln1552Ter)	ITPR1	Jul 20, 2016	MedGen:C0431401,OMIM:206700,Orphanet:ORPHA1065,SNOMED CT:253176002	Gillespie syndrome	germline	3	4706208	GCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACA
121434624	24467	NM_004380.2(CREBBP):c.406C>T (p.Gln136Ter)	CREBBP	Jul 27, 1995	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3850689	GGAGATTCTTCAGCCCCCAGCCTGCCTAAACAGGCAGCCAGCACCTCTGGGCCCACCCCCG
121908446	20483	NM_000553.4(WRN):c.3913C>T (p.Arg1305Ter)	WRN	Apr 12, 1996	MedGen:C0043119,OMIM:277700,Orphanet:ORPHA902,SNOMED CT:51626007	Werner syndrome	germline	8	31157461	GTGAAAGCTGGCTGCCCCCTTGATTTGGAGCGAGCAGGCCTGACTCCAGAGGTTCAGAAGA
128621201	26416	NM_000061.2(BTK):c.1558C>T (p.Arg520Ter)	BTK	Sep 12, 2016	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007;MedGen:CN517202	Agammaglobulinemia, non-Bruton type;X-linked agammaglobulinemia;not provided	germline	X	101356060	GAATACCTGGAGTCAAAGCAGTTCCTTCACCGAGACCTGGTGGGACCTTAGAAGGATTGGC
387906402	23870	NM_000336.2(SCNN1B):c.1847C>T (p.Pro616Leu)	SCNN1B	Dec 05, 1995	MedGen:C0221043,OMIM:177200,Orphanet:ORPHA526,SNOMED CT:71275003	Pseudoprimary hyperaldosteronism	germline	16	23380725	GTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCA
72558473	103263	NM_000531.5(OTC):c.958C>T (p.Arg320Ter)	OTC	Jun 21, 2017	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38411952	GAAGTGGATGATGAAGTCTTTTATTCTCCTCGATCACTAGTGTTCCCAGAGGCAGAAAACA
797045450	208030	NM_018451.4(CENPJ):c.1969C>T (p.Gln657Ter)	CENPJ	Dec 04, 2014	MedGen:C3888212,OMIM:613676	Seckel syndrome 4	germline	13	24906069	AAGGAGAGTGAGTGTGAAGTCGCACCCAAACAACTTCATTCATTGTCCTCAGCTGATGAAT
-1	439757	NM_014714.3(IFT140):c.2278C>T (p.Arg760Ter)	IFT140	Nov 22, 2017	MedGen:C1849437,OMIM:266920,Orphanet:ORPHA140969	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	germline	16	1558056	ATCCCTCAGATGGTGTCCAGGAGACCCCTGCGAGACTTTGTGGGGCTGGAGGACTGCGACA
397507539	49020	NM_002834.4(PTPN11):c.1471C>T (p.Pro491Ser)	PTPN11	Feb 02, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline;unknown	12	112489047	TTCGTAGGTGTTGACTGCGATATTGACGTTCCCAAAACCATCCAGATGGTGCGGTCTCAGA
786200960	178417	NM_006766.4(KAT6A):c.3385C>T (p.Arg1129Ter)	KAT6A	Mar 05, 2015	MedGen:CN225587;MedGen:C4225396,OMIM:616268,Orphanet:ORPHA457193	KAT6A syndrome;Mental retardation, autosomal dominant 32	de novo;germline	8	41934835	ACTCCTATCTTAAAGCCAGTATCTCTTTTGCGAAAACGTGATGTGAAGAATTCTCCTCTTG
104894180	28749	NM_001083116.2(PRF1):c.190C>T (p.Gln64Ter)	PRF1	Mar 01, 2001	MedGen:C1863727,OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	germline	10	70600713	CGCCGCTCGGGCTCCTTCCCAGTGGACACACAAAGGTTCCTGCGGCCCGACGGCACCTGCA
118204005	16249	NM_000429.2(MAT1A):c.790C>T (p.Arg264Cys)	MAT1A	Feb 01, 2000	MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009	Hepatic methionine adenosyltransferase deficiency	germline	10	80275178	CCTCTGCAGGGGGATGCGGGTGTCACTGGCCGTAAGATTATTGTGGACACCTATGGCGGCT
397507572	65733	NM_000059.3(BRCA2):c.1117C>T (p.Gln373Ter)	BRCA2	Nov 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32332595	ACTGATCCATTAGATTCAAATGTAGCAAATCAGAAGCCCTTTGAGAGTGGAAGTGACAAAA
118192215	34661	NM_172107.3(KCNQ2):c.997C>T (p.Arg333Trp)	KCNQ2	Jun 03, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	germline	20	63438651	CAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGA
727503118	176318	NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter)	LAMP2	May 31, 2017	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006;MedGen:CN517202	Danon disease;not provided	germline	X	120442650	AAGCTCTTTTTCAAACAGAAAAATGAAAACCGATTTTATCTGAAGGAAGTGAACATCAGCA
570388861	186815	NM_001287174.1(ABCC8):c.2800C>T (p.Arg934Ter)	ABCC8	Oct 07, 2015	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005;MedGen:CN517202	Persistent hyperinsulinemic hypoglycemia of infancy;not provided	germline;unknown	11	17408415	CTCTTTGAGCACTGGAAGACCCTCATGAACCGACAGGACCAAGAGCTGGAGAAGGTGGGTA
-1	444878	NM_002335.3(LRP5):c.4057C>T (p.Gln1353Ter)	LRP5	Jul 20, 2017	MedGen:CN517202	not provided	germline	11	68436945	TGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCG
137852718	76637	NM_024757.4(EHMT1):c.1858C>T (p.Arg620Ter)	EHMT1	Oct 05, 2010	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Chromosome 9q deletion syndrome	not provided	9	137776684	TCTCACCGTTTCCACAAAGACTGTGCCTCTCGAGTCAATAACGCCAGCTATTGTCCCCACT
267606921	28941	NM_002524.4(NRAS):c.149C>T (p.Thr50Ile)	NRAS	Jun 02, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:C2750732,OMIM:613224;MedGen:CN166718,Orphanet:ORPHA98733	Noonan syndrome;Noonan syndrome 1;Noonan syndrome 6;Rasopathy	germline	1	114713941	ACAGAAAACAAGTGGTTATAGATGGTGAAACCTGTTTGTTGGACATACTGGATACAGCTGG
149258390	40013	NM_001031679.2(MSRB3):c.55C>T (p.Arg19Ter)	MSRB3	Jan 07, 2011	MedGen:C2239351,OMIM:613718	Deafness, autosomal recessive 74	germline	12	65308634	TTGGTGACAAAGAGCCAGCCAGTAGCCCTTCGAGCCTGTGGGCTTCCCTCAGGTTGCTGCT
797044702	193386	NM_000169.2(GLA):c.469C>T (p.Gln157Ter)	GLA	Apr 21, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline	X	101401710	GGGAGTTTTGGATACTACGACATTGATGCCCAGACCTTTGCTGACTGGGGAGTAGATCTGC
754081635	248863	NM_177438.2(DICER1):c.1966C>T (p.R656*)	DICER1	Nov 10, 2014	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	germline	14	95113166	TTTACTCATCTAGCTCCTAAATGCAGAACCCGAGAGTTGCCTGATGGTACATTTTATTCAA
1131690846	420541	NM_000321.2(RB1):c.1147C>T (p.Gln383Ter)	RB1	Dec 27, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48373424	ATCCCCTCTAGGACTGTTATGAACACTATCCAACAATTAATGATGATTTTAAATTCAGCAA
397516943	54089	NM_004415.3(DSP):c.478C>T (p.Arg160Ter)	DSP	Jun 20, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1843896,OMIM:607450;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided	germline	6	7559281	CGAGCCCTTTATAAAGCCATCAGTGTCCCTCGAGTCCGCAGGGCCAGCTCCAAGGGTGGTG
-1	428103	NM_004836.6(EIF2AK3):c.2758C>T (p.Gln920Ter)	EIF2AK3	May 05, 2016	MedGen:C0432217,OMIM:226980,Orphanet:ORPHA1667,SNOMED CT:254066006	Wolcott-Rallison dysplasia	germline	2	88574725	GAGAGGAGCGTGTGTCTGCACATCTTCCTGCAGATCGCAGAGGCAGTGGAGTTTCTTCACA
1060501047	401053	NM_000138.4(FBN1):c.409C>T (p.Gln137Ter)	FBN1	Nov 03, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48600172	GGTAGCTGCAGTGACGATCACTGTCTATGCCAGAAAGGATACATAGGGACTCACTGTGGAC
28933697	24259	NM_000435.2(NOTCH3):c.544C>T (p.Arg182Cys)	NOTCH3	May 11, 2017	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003;MedGen:CN517202	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not provided	germline	19	15192095	GGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGC
121964868	27349	NM_001007792.1(NTRK1):c.1976C>T (p.Pro659Leu)	NTRK1	Jun 19, 2000	MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED CT:62985007	Hereditary insensitivity to pain with anhidrosis	germline	1	156880036	GCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCAC
74315489	31988	NM_000496.2(CRYBB2):c.463C>T (p.Gln155Ter)	CRYBB2	Jul 29, 2016	MedGen:C1832175,OMIM:601547;Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Cataract 3, multiple types;Congenital cataract	germline;inherited	22	25231617	CACCTCTGGCCCTGCAGGTGGGTTGGCTACCAGTACCCCGGCTACCGTGGGCTGCAGTACC
886041972	264946	NM_004750.4(CRLF1):c.322C>T (p.Gln108Ter)	CRLF1	Nov 07, 2017	MedGen:CN517202	not provided	germline	19	18599640	CTGGCCCTGGCCAACCTCAATGGGTCCAGGCAGCGGTCGGGGGACAACCTCGTGTGCCACG
143740376	94269	NM_021254.3(CFAP298):c.292C>T (p.Arg98Ter)	CFAP298	Sep 03, 2015	MedGen:C3809684,OMIM:615500;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia, primary, 26;Kartagener syndrome	germline	21	32609853	GGTGCAGTGTTTAAAAAGGATGATATTGGACGAAGGAATGGGCAAGGTAAGTGAGGATTTC
387906752	39029	NM_139125.3(MASP1):c.1489C>T (p.His497Tyr)	MASP1	Mar 01, 2011	MedGen:C0796059,OMIM:257920	Michels syndrome	germline	3	187236382	CTCTCTGCGTCCTGGATCCTCACAGCAGCTCATGTGCTGCGCTCCCAGCGTAGAGACACCA
876661394	236817	NM_000363.4(TNNI3):c.523C>T (p.Gln175Ter)	TNNI3	Feb 27, 2017	MedGen:CN230736;MedGen:CN517202	Cardiovascular phenotype;not provided	germline	19	55154056	GAGTCCCTGGACCTGCGGGCCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTGA
886041991	264348	NM_014141.5(CNTNAP2):c.1819C>T (p.Gln607Ter)	CNTNAP2	Sep 16, 2016	MedGen:CN517202	not provided	germline	7	147562179	CCTTCCTGTGAAGCCTACAAACACCTAGGACAGACATCAAATTATTACTGGATAGATCCTG
2569548	246489	NM_000527.4(LDLR):c.2053C>T (p.Pro685Ser)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120435	GGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTA
193922109	44392	NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter)	ATP7B	Jun 09, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202;MedGen:CN169374	Wilson disease;not provided;not specified	germline;unknown	13	51937342	GCTAGCATTCACCTTTCCAAGAGGACTGTCCGAAGGATACGCATCAACCTGGTCCTGGCAC
398124524	102363	NM_144997.5(FLCN):c.1117C>T (p.Gln373Ter)	FLCN	May 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	17217128	ATGCTGGCCTGGCACGTTCTCATGGGGAACCAGGTGATCTGGAAAAGCAGAGACGTGGACC
539400286	214330	NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)	CEP290	Jan 04, 2016	MedGen:C1857780,OMIM:610188;MedGen:C1970161,OMIM:611134	Joubert syndrome 5;Meckel syndrome type 4	germline;unknown	12	88086083	ATCGCTCTAAGGAAAATTAAGGAGAACATTCGAATAATTCTAGAAACACGGGCAACTTGCA
63751273	29284	NM_005910.5(MAPT):c.902C>T (p.Pro301Leu)	MAPT	Aug 30, 2016	Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:C0038868,OMIM:601104,SNOMED CT:28978003;MedGen:CN517202	Frontotemporal dementia;Progressive supranuclear ophthalmoplegia;not provided	germline	17	46010389	GTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACG
201818754	132694	NM_022166.3(XYLT1):c.1588-3C>T	XYLT1	Mar 06, 2014	MedGen:C4014294,OMIM:615777	Desbuquois dysplasia 2	germline	16	17138534	AGGTCTCAGGCTGGGTCCCTCTCTCCCCTGCAGTCCTTCTTCCATACGGTCCTGGAGAACA
132630287	26123	NM_001128834.2(PLP1):c.418C>T (p.His140Tyr)	PLP1	Mar 01, 1994	MedGen:C1839264,OMIM:312920,Orphanet:ORPHA99015	Spastic paraplegia 2	germline	X	103786691	CATCAAGCTCATTCTTTGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCG
121907912	18500	NM_000280.4(PAX6):c.406C>T (p.Gln136Ter)	PAX6	Dec 01, 1993	MedGen:C0344542,OMIM:106210	Aniridia 1	germline	11	31800808	GTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGACGGCATGTATGATAAAC
387907141	40167	NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter)	ARID1B	May 09, 2016	MedGen:CN029606,OMIM:135900;MedGen:CN517202	Coffin-Siris syndrome 1;not provided	germline	6	157181137	GCCGTGGGCAAGAAGCCCCTGGACCTGTTCCGACTCTACGTCTGCGTCAAAGAGATCGGGG
863225166	214217	NM_023073.3(CPLANE1):c.2923C>T (p.Gln975Ter)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37206423	TAATCCATTTTTAAAAATTTACTCACAGAGCAGTCCTTTCGACTTATTCCTCTGCAACACT
749355583	190135	NM_198569.2(ADGRG6):c.19C>T (p.Arg7Ter)	ADGRG6	Jun 04, 2015	MedGen:C2931264,Orphanet:ORPHA1037;MedGen:C4225303,OMIM:616503	Arthrogryposis multiplex congenita;Lethal congenital contracture syndrome 9	germline	6	142309560	TTCTTTCTTTGCAGGATGTTTCGCTCAGATCGAATGTGGAGCTGCCATTGGAAATGGAAGC
116052854	426529	NM_002052.4(GATA4):c.1146+129C>T	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11757212	TCACAGGTGCAAGCAGTGAGCTACCCTCTGCGCTAGGAAGACCCAGCCATTGAGCTGTGTG
886039592	259964	NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter)	ATM	Mar 24, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108295029	CTTCGAAGACAACTGGAACTACATAAAGATCAGATGGTGGACATTATGAGAGCTTCTCAGG
80358376	168495	NM_133433.3(NIPBL):c.6892C>T (p.Arg2298Cys)	NIPBL	Aug 27, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37049239	GAGGCATTTTTTCACACCCAGTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGA
387907013	39750	NM_024884.2(L2HGDH):c.1003C>T (p.Arg335Ter)	L2HGDH	Sep 21, 2011	Human Phenotype Ontology:HP:0040144,MedGen:C1855995,OMIM:236792,Orphanet:ORPHA79314	L-2-hydroxyglutaric aciduria	germline	14	50267814	CTAGGGCCTAATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTG
119479062	19745	NM_006031.5(PCNT):c.5767C>T (p.Arg1923Ter)	PCNT	Mar 05, 2013	MedGen:C0432246,OMIM:210720,Orphanet:ORPHA2637	Microcephalic osteodysplastic primordial dwarfism type 2	germline	21	46411840	GGGGCGGCGCCTCCCGAGCTGCAGTGGCTCCGAGCGCAGTGTGCCCGCCTCAGCCGCCAGC
312262841	49554	NM_003611.2(OFD1):c.628C>T (p.Gln210Ter)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13746429	CTAAATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAGGTAA
119103266	17318	NM_014874.3(MFN2):c.617C>T (p.Thr206Ile)	MFN2	Feb 01, 2006	MedGen:C0393807,OMIM:601152,Orphanet:ORPHA90120,SNOMED CT:128203003	Hereditary motor and sensory neuropathy with optic atrophy	germline	1	11998787	CTGTCACCTTTAGCCCTGGTATTGATGTCACCACAGAGCTGGACAGCTGGATTGACAAGTT
-1	447332	NM_024529.4(CDC73):c.505C>T (p.Gln169Ter)	CDC73	Jan 12, 2017	Human Phenotype Ontology:HP:0006780,MedGen:C0687150,OMIM:608266,Orphanet:ORPHA143,SNOMED CT:255037004	Parathyroid carcinoma	germline	1	193138166	GGTCACAAAGAAGGGATTGTACAGACTGAACAGATTAGGTAAGAATTCTTTTTAAGTAGAA
141431913	48103	NM_183075.2(CYP2U1):c.1462C>T (p.Arg488Trp)	CYP2U1	Jan 28, 2013	MedGen:C3539507,OMIM:615030,Orphanet:ORPHA320411	Spastic paraplegia 56, autosomal recessive	germline	4	107950250	CATTTTTTTCTGATCTCATTTTTAGGGAAGCGGGTGTGTATGGGAGAACAACTGGCAAAGA
201258663	190040	NM_018965.3(TREM2):c.197C>T (p.Thr66Met)	TREM2	Mar 12, 2015	MedGen:C1857316,OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	germline	6	41161457	AGAAGGGCCCATGCCAGCGTGTGGTCAGCACGCACAACTTGTGGCTGCTGTCCTTCCTGAG
28928902	29542	NM_170707.3(LMNA):c.1411C>T (p.Arg471Cys)	LMNA	Apr 30, 2015	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:CN043412;MedGen:CN517202	Charcot-Marie-Tooth disease;Mandibuloacral dysplasia with type A lipodystrophy, atypical;not provided	germline	1	156136951	GACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTT
104894827	25752	NM_000169.2(GLA):c.1066C>T (p.Arg356Trp)	GLA	Jun 20, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398033	GGCTTAGCCTGGGCTGTAGCTATGATAAACCGGCAGGAGATTGGTGGACCTCGCTCTTATA
104893807	27545	NM_003242.5(TGFBR2):c.1346C>T (p.Ser449Phe)	TGFBR2	Aug 01, 2004	MedGen:C2674876,OMIM:610168	Loeys-Dietz syndrome 2	germline	3	30674196	TTGAGTCCTTCAAGCAGACCGATGTCTACTCCATGGCTCTGGTGCTCTGGGAAATGACATC
886039251	259338	NM_001242896.1(DEPDC5):c.526C>T (p.Gln176Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31783949	TCTACGTCGGCTATGGTTTACATATTTATTCAGATGAGCTGTGAAATGTGGGATTTTGATA
180177202	200471	NM_000030.2(AGXT):c.331C>T (p.Arg111Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869335	CTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTA
886042954	269055	NM_182961.3(SYNE1):c.8866C>T (p.Gln2956Ter)	SYNE1	Dec 04, 2015	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644	Spinocerebellar ataxia, autosomal recessive 8	germline	6	152381149	AACCTGGTCAGCCAGATGGCCCTTTCGGAGCAGGAATTCTCAGGCCAAGTGGCTCAACTGG
762083530	183303	NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter)	ATM	Jul 25, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108295002	TTGACAAGACTTGAAGGACTAAAGGATCTTCGAAGACAACTGGAACTACATAAAGATCAGA
121918060	15109	NM_000374.4(UROD):c.185C>T (p.Pro62Leu)	UROD	Apr 01, 1996	MedGen:C0162569	Hepatoerythropoietic porphyria	germline	1	45013187	CCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGT
137853335	24250	NM_000457.4(HNF4A):c.487C>T (p.Arg163Ter)	HNF4A	Jun 07, 2017	MedGen:C1852093,OMIM:125850;MedGen:CN517202	Maturity-onset diabetes of the young,  type 1;not provided	germline	20	44413795	AATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCAC
759103701	426709	NM_005378.5(MYCN):c.964C>T (p.Arg322Ter)	MYCN	Jan 12, 2016	MedGen:C0796068,OMIM:164280	Feingold syndrome 1	unknown	2	15945666	AGGGCTCAGTCCAGCGAGCTGATCCTCAAACGATGCCTTCCCATCCACCAGCAGCACAACT
387907091	40027	NM_017950.3(CCDC40):c.1315C>T (p.Gln439Ter)	CCDC40	Jan 01, 2011	MedGen:C3151137,OMIM:613808	Ciliary dyskinesia, primary, 15	germline	17	80058649	AGGATCCGGGCAGAAATCGAGAAGAAAAAGCAGGTATTCTGCAAACTCGACACATGTTTAA
972964381	373579	NM_052867.3(NALCN):c.2008C>T (p.Gln670Ter)	NALCN	Dec 29, 2016	MedGen:CN517202	not provided	germline	13	101143190	GAGAGTTTTATGAAGCAGTTTATTGACCGCCAGCAACAGGACACATGTTGCCTCCTGAGAA
946132834	414260	NM_001204.6(BMPR2):c.1207C>T (p.Q403*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532663	AACTTGAGGGACTGTGAATCAGCTTTGAAACAAGTAGACATGTATGCTCTTGGACTAATCT
121918337	16738	NM_015040.3(PIKFYVE):c.2962C>T (p.Gln988Ter)	PIKFYVE	Jul 01, 2008	MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED CT:417183007	Fleck corneal dystrophy	germline	2	208325773	TCATTGTTGCCACTCCCTGTGGATGACCAACAAGATGCTTTAGGCAGCGAGCAGCCAGAGA
121917746	27978	NM_003124.4(SPR):c.355C>T (p.Gln119Ter)	SPR	Aug 01, 2001	MedGen:C0268468,OMIM:612716,Orphanet:ORPHA70594,SNOMED CT:45116002	Sepiapterin reductase deficiency	germline	2	72888364	AAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGA
-1	426253	NM_207346.2(TSEN54):c.1156C>T (p.Gln386Ter)	TSEN54	Nov 02, 2015	MedGen:CN517202	not provided	germline	17	75522237	TCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCC
267607618	77697	NM_170707.3(LMNA):c.1294C>T (p.Gln432Ter)	LMNA	Dec 07, 2016	MedGen:CN043576;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Primary dilated cardiomyopathy;not provided	germline	1	156136350	GAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCG
786205000	187398	NM_005249.4(FOXG1):c.136C>T (p.Gln46Ter)	FOXG1	Jun 12, 2013	MedGen:CN517202	not provided	de novo	14	28767415	AGCCACGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCATCACC
74517001	425462	NM_032504.1(UNC80):c.2527C>T (p.Arg843Ter)	UNC80	Jun 08, 2017	na;MedGen:CN517202	UNC80-Related Disorder;not provided	germline;paternal	2	209829280	AAGCTATACAAGCTAGATAAGATGCAGTTCCGACAAACCATGAGGGACTATGTGAACAAGG
63751011	104114	NM_005910.5(MAPT):c.915+16C>T	MAPT	Apr 04, 2017	MedGen:CN517202	not provided	germline	17	46010418	CCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTA
397516940	54081	NM_004415.3(DSP):c.4531C>T (p.Gln1511Ter)	DSP	Aug 07, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1843896,OMIM:607450;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;not provided	germline	6	7580721	GAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTG
121912770	32687	NM_000494.3(COL17A1):c.3067C>T (p.Gln1023Ter)	COL17A1	Feb 01, 1997	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	germline	10	104038409	GAGATTCAGCAGTACATCTCTGAGTACATGCAGAGTGAGTAGCTGGCCGCCGCAAGCCGTG
121434631	24191	NM_000409.4(GUCA1A):c.451C>T (p.Leu151Phe)	GUCA1A	Apr 01, 2005	MedGen:C1865869,OMIM:602093	Cone dystrophy 3	germline	6	42179248	CTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCC
387906850	39262	NM_005902.3(SMAD3):c.859C>T (p.Arg287Trp)	SMAD3	Mar 28, 2017	MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984;MedGen:CN517202	Loeys-Dietz syndrome 3;not provided	germline	15	67181441	GTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATT
-1	444154	NM_015570.3(AUTS2):c.1582C>T (p.Gln528Ter)	AUTS2	Jul 13, 2017	MedGen:CN517202	not provided	germline	7	70766227	CCCTACCTGCGGACCGAGTTCCATCAGCACCAGCACCAGCACCAGCACACCCACCAGCACA
121917764	27369	NM_199292.2(TH):c.941C>T (p.Thr314Met)	TH	Jan 01, 2000	MedGen:C1854299,OMIM:605407	Segawa syndrome, autosomal recessive	germline	11	2166762	AGTGACCCGCGTGGCCCCTTGCAGAGCGCACGGGCTTCCAGCTGCGGCCTGTGGCCGGCCT
141090143	40091	NM_174917.4(ACSF3):c.1672C>T (p.Arg558Trp)	ACSF3	Feb 23, 2017	MedGen:C3280314,OMIM:614265,Orphanet:ORPHA289504;MedGen:CN517202	Combined malonic and methylmalonic aciduria;not provided	germline	16	89154148	TCGGAGCTGGTGCTGGTGGAGGAGATCCCGCGGAACCAGATGGGCAAGATTGACAAGAAGG
150675340	358307	NM_000520.5(HEXA):c.709C>T (p.Gln237Ter)	HEXA	Apr 05, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline;unknown	15	72350614	TACAACCCTGTCACCCACATCTACACAGCACAGGATGTGAAGGAGGTCATTGAATACGCAC
886041363	264997	NM_000444.5(PHEX):c.1601C>T (p.Pro534Leu)	PHEX	May 09, 2016	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline;maternal;paternal	X	22190458	GTTTCTTTTTCTACAGGTGGTTTACAAATCCGACGACTGTCAATGCCTTCTACAGTGCATC
121918640	27891	NM_003126.3(SPTA1):c.121C>T (p.Arg41Trp)	SPTA1	Aug 01, 1989	MedGen:C1851741,OMIM:130600	Elliptocytosis 2	germline	1	158685251	GTGTTGACTCGGTATCAAAGTTTCAAGGAGCGGGTCGCTGAGAGGGGTCAGAAGCTTGAGG
387907329	51081	NM_007075.3(WDR45):c.700C>T (p.Arg234Ter)	WDR45	Oct 03, 2017	Human Phenotype Ontology:HP:0001344,MedGen:C1854882;Human Phenotype Ontology:HP:0002194,MedGen:C1837658;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0002079,MedGen:C0344482;MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:CN517202	Absent speech;Delayed gross motor development;Delayed speech and language development;Global developmental delay;Hypoplasia of the corpus callosum;Neurodegeneration with brain iron accumulation 5;Seizures;not provided	germline;maternal;unknown	X	49075573	CAATCCAAGGAGAAACTGGTGGAGCTGCGCCGAGGCACTGACCCTGCCACCCTCTACTGGT
397515469	76948	NM_199355.3(ADAMTS18):c.97C>T (p.Gln33Ter)	ADAMTS18	Sep 01, 2013	MedGen:C3809567,OMIM:615458,Orphanet:ORPHA369970	Microcornea, myopic chorioretinal atrophy, and telecanthus	germline	16	77434499	GCGATGTCACCTTTTCTCTTGCAGGCGCTCCAGCTGTGCTGCCTCTGCTGTGCGTCGGTCG
387906690	38849	NM_004959.4(NR5A1):c.392C>T (p.Pro131Leu)	NR5A1	Oct 08, 2010	MedGen:C3151406,OMIM:613957	Spermatogenic failure 8	germline	9	124500568	AGACAGGGCCCCCGATGGGGGTGCCCCCGCCGCCCCCTCCCGCACCGGACTACGTGCTGCC
387906538	29725	NM_000208.3(INSR):c.2770C>T (p.Arg924Ter)	INSR	Jan 01, 1990	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7132230	CGTGGGCTGTCACCGGGGAACTACAGCGTGCGAATCCGGGCCACCTCCCTTGCGGGCAACG
119489105	20441	NM_006343.2(MERTK):c.1951C>T (p.Arg651Ter)	MERTK	Mar 09, 2010	MedGen:C3151228,OMIM:613862	Retinitis pigmentosa 38	germline	2	112008466	ATGAAAGACTTCAGCCACCCAAATGTCATTCGACTTCTAGGTACTTCCGAGAAATGCAGGA
-1	426372	NM_000268.3(NF2):c.1228C>T (p.Gln410Ter)	NF2	Jun 19, 2017	MedGen:CN517202	not provided	germline	22	29673374	CAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGG
606231295	167522	NM_004415.3(DSP):c.1691C>T (p.Thr564Ile)	DSP	Nov 01, 2012	MedGen:C4014393,OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	germline	6	7570553	TGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTT
397515443	59597	NM_018972.2(GDAP1):c.821C>T (p.Pro274Leu)	GDAP1	Aug 09, 2011	MedGen:C1842983,OMIM:607831,Orphanet:ORPHA101097	Charcot-Marie-Tooth disease type 2K	germline	8	74364111	CAAGGAGAAACTGGGGAAACGGAAAGCGACCAAACTTGGAAACCTATTACGAGCGTGTCTT
780011606	481743	NM_022132.4(MCCC2):c.538C>T (p.Arg180Ter)	MCCC2	Dec 06, 2017	MedGen:CN517202	not provided	germline	5	71604382	TCAGTTGATTCGGGAGGAGCATACTTACCTCGACAAGCAGATGTGTTTCCAGATCGAGACC
1064796942	411272	NM_000444.5(PHEX):c.1147C>T (p.Gln383Ter)	PHEX	Mar 10, 2017	MedGen:CN517202	not provided	germline	X	22111534	TCCAGAATTCCAAACCTTAGCAGGCGCTTTCAGTATAGATGGCTGGAATTCTCAAGGGTAA
778665661	247512	NM_003504.4(CDC45):c.1660C>T (p.Arg554Trp)	CDC45	Oct 20, 2016	MedGen:C4310738,OMIM:617063	Meier-gorlin syndrome 7	germline	22	19518867	ACTTCAGTAATTGAGCTGAAAGCTGAGGATCGGAGCAAGTTTCTGGACGCACTTATTTCCC
121917984	79470	NM_006920.4(SCN1A):c.677C>T (p.Thr226Met)	SCN1A	Jul 24, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	germline;unknown	2	166052869	GAACATTCAGAGTTCTCCGAGCATTGAAGACGATTTCAGTCATTCCAGGTGAGAGCAAGGT
111033749	36580	NM_000155.3(GALT):c.691C>T (p.Arg231Cys)	GALT	Nov 29, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN517202	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided	germline;unknown	9	34648765	GACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAG
1057521083	366251	NM_015265.3(SATB2):c.1165C>T (p.Arg389Cys)	SATB2	Jan 04, 2017	MedGen:CN517202	not provided	germline	2	199348709	CAAGCTGTCTTTGCAAGAGTGGCATTCAACCGCACACAGGTACAATTAGCATTAAACACTG
121918181	15944	NM_000181.3(GUSB):c.526C>T (p.Leu176Phe)	GUSB	Jan 12, 2017	MedGen:C0026709,OMIM:253200,Orphanet:ORPHA583;MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VI;Mucopolysaccharidosis type VII	germline	7	65979782	CTCCGAATCACTATCGCCATCAACAACACACTCACCCCCACCACCCTGCCACCAGGGACCA
1060505020	404621	NM_016569.3(TBX3):c.1483C>T (p.Gln495Ter)	TBX3	Apr 19, 2017	MedGen:C1866994,OMIM:181450	Ulnar-mammary syndrome	germline	12	114674452	CAGACGGACGCGGCCGCCGCGCACCTGGCCCAGGGCCCCCTGCCTGGCCTCGGCTTCGCCC
104894594	16604	NM_000263.3(NAGLU):c.1927C>T (p.Arg643Cys)	NAGLU	Jan 01, 1999	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	germline	17	42543933	GCCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAG
587783907	168362	NM_133433.3(NIPBL):c.2500C>T (p.Arg834Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36985680	TCAGATGACAGGGGTGAATCAGAGCGACATCGAGGGGATCAGTCTAGGGTTCGAAGACCAG
587784269	169355	NM_000430.3(PAFAH1B1):c.460C>T (p.Gln154Ter)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2670223	CGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGC
121918175	15935	NM_000181.3(GUSB):c.1061C>T (p.Ala354Val)	GUSB	Jan 01, 1993	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65974923	ATTTCCACGGTGTCAACAAGCATGAGGATGCGGACGTGTGTTGGGGCTCCTGGGTCCTTGT
199472719	67768	NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys)	KCNQ1	Jul 02, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2572104	AGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCG
140494585	39282	NM_005619.4(RTN2):c.1100C>T (p.Ser367Phe)	RTN2	Feb 01, 2012	MedGen:C1858106,OMIM:604805,Orphanet:ORPHA100993	Spastic paraplegia 12	germline	19	45489487	CAGGAGTGGTCTTCACAGGCCTGATGGTCTCCCTCCTCTGCCTCCTGCACTTTAGCATCGT
104894735	25817	NM_003916.4(AP1S2):c.154C>T (p.Arg52Ter)	AP1S2	Dec 01, 2006	MedGen:C0796254,OMIM:304340,Orphanet:ORPHA1568	Pettigrew syndrome	germline	X	15852371	AAACCTAAAATGTGCAGCTTCCTTGAGTGGCGAGATCTGAAGATTGTTTACAAAAGGTATA
797044989	204980	NM_002204.3(ITGA3):c.1387C>T (p.Arg463Trp)	ITGA3	Jul 01, 2015	MedGen:C3553636,OMIM:614748,Orphanet:ORPHA306504	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	germline	17	50074452	TCTGTCTGGCTCTGTTGTCTCTGCAGGGCCCGGCCCGTCATCAACATCGTCCACAAGACCT
63750759	21603	NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp)	ABCC6	Sep 27, 2017	MedGen:C3276161,OMIM:614473;MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Generalized arterial calcification of infancy 2;Pseudoxanthoma elasticum;not provided	germline	16	16154974	GGGAAGTCCTCCCTGGCCAGTGGGCTGCTGCGGCTCCAGGAGGCAGCTGAGGGTGGGATCT
587784570	168032	NM_014795.3(ZEB2):c.823C>T (p.Gln275Ter)	ZEB2	Sep 06, 2013	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144401292	TTTCTCCTTTTATAGCACCAAATGCTAACCCAAGGAGCAGGTAATCGCAAGTTCAAATGCA
775933965	202851	NM_001482.2(GATM):c.778C>T (p.Arg260Ter)	GATM	Sep 24, 2012	MedGen:CN517202	not provided	germline	15	45366406	GAGCCATGCTTTGATGCTGCTGACTTCATTCGAGCTGGAAGAGATATTTTTGCACAGAGAA
104893992	24342	NM_001024630.3(RUNX2):c.673C>T (p.Arg225Trp)	RUNX2	Nov 01, 1999	MedGen:C0008928,OMIM:119600,Orphanet:ORPHA1452,SNOMED CT:65976001	Cleidocranial dysostosis	germline	6	45438039	AGAGCAATTAAAGTTACAGTAGATGGACCTCGGGAACCCAGAAGTAAGTACTCCCCTTTTT
121434450	22378	NM_005144.4(HR):c.3526C>T (p.Gln1176Ter)	HR	Oct 01, 2002	MedGen:C1859592,OMIM:209500,Orphanet:ORPHA86819	Atrichia with papular lesions	germline	8	22115744	TCTTTTTCCTAGATGGACTGGGCTGTGTTCCAAGCAGTGAAGGTGGCCGTGGGGACATTAC
-1	446878	NM_001142966.2(GREB1L):c.2251C>T (p.Arg751Cys)	GREB1L	Dec 18, 2017	MedGen:CN703737,OMIM:617805	RENAL HYPODYSPLASIA/APLASIA 3	germline	18	21473099	GCCCATCAGAGAGCAGAAAAATATGTTGTTCGTCTAGACAATGAGATTCAAACCAAGTTTG
104893637	22580	NM_002381.4(MATN3):c.361C>T (p.Arg121Trp)	MATN3	Jul 25, 2013	MedGen:C1846843,OMIM:607078,Orphanet:ORPHA93311	Multiple epiphyseal dysplasia 5	germline	2	20006173	GACACTCTGGACATTGGGCCAGCCGACACGCGGGTGGCAGTGGTGAACTATGCTAGCACTG
1057517096	357037	NM_000228.2(LAMB3):c.1117C>T (p.Gln373Ter)	LAMB3	Aug 02, 2016	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006	Junctional epidermolysis bullosa gravis of Herlitz	unknown	1	209629752	TTCCGGAACCGGCGCCCGGGAGCTTCCATTCAGGAGACCTGCATCTGTGAGTAGAGGCTCC
1033093801	481998	NM_001198868.1(CAPN1):c.853C>T (p.Arg285Ter)	CAPN1	Nov 29, 2017	MedGen:CN517202	not provided	germline	11	65187964	GACAGGAGCTCTGGCAAATAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGC
128626251	26300	NM_004006.2(DMD):c.6373C>T (p.Gln2125Ter)	DMD	Mar 04, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32216981	ATATTTAATCAGTGGCTAACAGAAGCTGAACAGTTTCTCAGAAAGACACAAATTCCTGAGA
119455955	17682	NM_000391.3(TPP1):c.622C>T (p.Arg208Ter)	TPP1	Aug 10, 2017	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349;MeSH:D030342,MedGen:C0950123;MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007;MedGen:CN517202	Ceroid lipofuscinosis neuronal 2;Inborn genetic diseases;Neuronal ceroid lipofuscinosis;not provided	germline;unknown	11	6617040	CTGGGGGTAACCCCCTCTGTGATCCGTAAGCGATACAACTTGACCTCACAAGACGTGGGCT
199757347	301638	NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter)	SPINK5	Jun 14, 2016	MedGen:C0265962,OMIM:256500,Orphanet:ORPHA634	Netherton syndrome	germline	5	148091214	GCCAAGCGAGAGGGTGAAACTAGAATTCGACGAAATGCTGAAAAGGTAAAATGACTCACCA
1131691651	421399	NM_003494.3(DYSF):c.1177C>T (p.Gln393Ter)	DYSF	Jun 10, 2016	MedGen:CN517202	not provided	germline	2	71526343	CTGAAGGTCTTCCGGGCCGAGGACTTGCCGCAGAGTGCGTGGGGCGCGCCCTTGGGTGGGA
104894382	23034	NM_000192.3(TBX5):c.709C>T (p.Arg237Trp)	TBX5	Jun 13, 2016	MedGen:C3542024,OMIM:614823;MedGen:C0018798,OMIM:140500,OMIM:234750,Orphanet:ORPHA88991;MedGen:C0265264,OMIM:142900,SNOMED CT:19092004	Aortic valve disease 2;Heart, malformation of;Holt-Oram syndrome	germline;inherited	12	114385522	ATTGAGAATAATCCCTTTGCCAAAGGATTTCGGGGCAGTGATGACATGGAGCTGCACAGAA
267606691	15143	NM_001029883.2(C2orf71):c.556C>T (p.Gln186Ter)	C2orf71	May 14, 2010	MedGen:C3150691,OMIM:613428	Retinitis pigmentosa 54	germline	2	29073706	TTCCCGGAGCCTCTGGTAAAGGCCCACCAGCAGGCTTACACCTATCTACACTCCAGCCTCT
886042153	265648	NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter)	CEP290	Jun 15, 2015	MedGen:C1857780,OMIM:610188	Joubert syndrome 5	germline	12	88106770	AGGCAATATACAACCTTAGTAGAATTGGAGCGACAACTTAGAAAAGAAAATGAGAAGCAAA
587784209	168283	NM_022455.4(NSD1):c.6559C>T (p.Arg2187Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177293927	ATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGG
137853070	22505	NM_002241.4(KCNJ10):c.500C>T (p.Ala167Val)	KCNJ10	Nov 12, 2010	MedGen:C2748572,OMIM:612780,Orphanet:ORPHA199343	SeSAME syndrome	germline	1	160042033	TGGAAATCTTCATCACAGGTACCTTCCTGGCGAAGATTGCCCGGCCCAAGAAGCGGGCTGA
104894878	25727	NM_000266.3(NDP):c.361C>T (p.Arg121Trp)	NDP	Dec 03, 2015	MedGen:C1844579,OMIM:305390;MedGen:CN517202	Familial exudative vitreoretinopathy, X-linked;not provided	germline	X	43949840	TCAGGGGGCATGCGACTCACTGCCACCTACCGGTACATCCTCTCCTGTCACTGCGAGGAAT
398122558	183919	NM_000059.3(BRCA2):c.6475C>T (p.Gln2159Ter)	BRCA2	Apr 22, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32340830	ATTAAAGTTTCTCCATATCTCTCTCAATTTCAACAAGACAAACAACAGTTGGTATTAGGAA
72554632	25006	NM_000240.3(MAOA):c.886C>T (p.Gln296Ter)	MAOA	Oct 22, 1993	MedGen:C0796275,OMIM:300615,Orphanet:ORPHA3057	Monoamine oxidase A deficiency	germline	X	43731784	GAGCTTCCAGCAGAGAGAAACCAGTTAATTCAGCGGCTTCCAATGGGAGCTGTCATTAAGT
778533826	214351	NM_015272.4(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	RPGRIP1L	Feb 23, 2015	MedGen:C1969053,OMIM:611560	Joubert syndrome 7	unknown	16	53619112	GACACTATCCAACGGCTGTTTGTTGAGTGTCGATTCTACAGTCTTCCTGCTGAAGAGACAC
143277125	96858	NM_000535.6(PMS2):c.949C>T (p.Gln317Ter)	PMS2	Jul 06, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	7	5992012	AATGAGGTCTACCACATGTATAATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTG
886041705	265017	NM_001193416.2(DDX3X):c.1804C>T (p.Arg602Ter)	DDX3X	Nov 07, 2017	MedGen:CN517202	not provided	germline	X	41347349	TTTAGTGGAGGGTTTGGTGCCAGAGACTACCGACAAAGTAGCGGTGCCAGCAGTTCCAGCT
104894492	20568	NM_014249.3(NR2E3):c.226C>T (p.Arg76Trp)	NR2E3	Feb 01, 2000	MedGen:C1849394,OMIM:268100,Orphanet:ORPHA53540	Enhanced s-cone syndrome	germline	15	71811590	GGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGT
-1	425983	NM_003482.3(KMT2D):c.11749C>T (p.Gln3917Ter)	KMT2D	Jun 21, 2017	MedGen:CN517202	not provided	germline	12	49032956	CAACAGCAACAGCAACTTCAGCAGCAGCAGCAGCAGCAGCTACAACAGCAACAGCAACTTC
1060500618	395444	NM_004415.3(DSP):c.2602C>T (p.Gln868Ter)	DSP	Dec 25, 2016	MedGen:C1843896,OMIM:607450	Arrhythmogenic right ventricular cardiomyopathy, type 8	germline	6	7575460	GAAAAAGTCACACAGCTGACAGACCGCTGGCAAAGGATAGATAAACAGATCGACTTTAGGT
778457903	362090	NM_014855.2(AP5Z1):c.412C>T (p.Arg138Ter)	AP5Z1	Jan 26, 2017	MedGen:C3150901,OMIM:613647,Orphanet:ORPHA306511	Spastic paraplegia 48, autosomal recessive	germline	7	4783361	GAGGTCAGAGCCGTGGGCCAGGGCGTGCTACGAGCGCTGGAGAGCCGGCAGCCTGAGGGAC
121908749	57834	NM_000492.3(CFTR):c.223C>T (p.Arg75Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117509092	AAAAATCCTAAACTCATTAATGCCCTTCGGCGATGTTTTTTCTGGAGATTTATGTTCTATG
727502770	172187	NM_005360.4(MAF):c.176C>T (p.Pro59Leu)	MAF	May 07, 2015	MedGen:C1832812,OMIM:601088,Orphanet:ORPHA477668	Ayme-gripp syndrome	de novo;germline	16	79599727	TCATCGCCGGGGGCTCGCTGTCCTCCACCCCCATGAGCACGCCGTGCAGCTCGGTGCCCCC
546989392	202783	NM_006493.2(CLN5):c.595C>T (p.Arg199Ter)	CLN5	May 26, 2017	MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007;MedGen:CN517202	Neuronal ceroid lipofuscinosis;not provided	germline	13	76996010	CAACTTGGCAACTGTACATTTCCCCATCTCCGACCTGAAATGGATGCCCCTTTCTGGTGTA
118203957	16237	NM_001038603.2(MARVELD2):c.1498C>T (p.Arg500Ter)	MARVELD2	Sep 07, 2016	MedGen:C4017220;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, neurosensory, autosomal recessive 49;Nonsyndromic hearing loss and deafness;not provided	germline	5	69433088	ATGAGCAGATTGCCACATCATTCGGAAAGCCGACAGGTTAGTATGTGCAGCTGCCTAGGAG
61750089	106231	NM_000552.4(VWF):c.4382C>T (p.Ala1461Val)	VWF	Sep 20, 2016	MedGen:CN517202;MedGen:CN169374	not provided;not specified	germline	12	6019036	ACGAGATCGTTAGCTACCTCTGTGACCTTGCCCCTGAAGCCCCTCCTCCTACTCTGCCCCC
869312890	226690	NM_139276.2(STAT3):c.454C>T (p.Arg152Trp)	STAT3	Oct 30, 2014	MedGen:C4014795,OMIM:615952,Orphanet:ORPHA438159	Autoimmune disease, multisystem, infantile-onset, 1	de novo	17	42339328	CAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAA
587777206	107254	NM_173812.4(DPY19L2):c.892C>T (p.Arg298Cys)	DPY19L2	Mar 10, 2014	MedGen:C3151407,OMIM:613958	Spermatogenic failure 9	germline	12	63624101	GCCACCCGTGTGATGTGGACACCACCTCTCCGTGAAAGTTTTTCCTATCCTTTCCTTGTAC
121917866	15490	NM_000097.5(CPOX):c.991C>T (p.Arg331Trp)	CPOX	May 01, 2001	MedGen:C0342856,SNOMED CT:190915002	Coproporphyria	germline	3	98585622	GATTACTTCTTTATAGCCCATCGTGGAGAACGGCGGGGCATTGGTGGTATCTTTTTTGATG
267606984	166132	NM_001083602.2(PTCH1):c.895C>T (p.Gln299Ter)	PTCH1	Jun 14, 1996	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	germline	9	95479122	TGCAGCGCCCATGCCCTGCAGACCATGTTCCAGTTAATGACTCCCAAGCAAATGTACGAGC
104893739	19904	NM_023067.3(FOXL2):c.586C>T (p.Gln196Ter)	FOXL2	Sep 01, 2003	MedGen:C0220663,OMIM:110100,Orphanet:ORPHA126	Blepharophimosis, ptosis, and epicanthus inversus	germline	3	138946137	TACGGCTACCTGGCGCCCCCCAAGTACCTGCAGTCTGGCTTCCTCAACAACTCGTGGCCGC
140583	260073	NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)	FBN1	Mar 20, 2017	MedGen:CN229799;MedGen:CN517202;MedGen:CN169374	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;not provided;not specified	germline	15	48495219	GGCACTTGCTGGCAGACTGTCATTGATGGGCGATGTGAGATCAACATCAATGGAGCCACCT
879253797	213919	NM_003119.3(SPG7):c.2249C>T (p.Pro750Leu)	SPG7	-	MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013	Spastic paraplegia 7	germline	16	89556954	ATGAGGACATTGAGGCTCTCATTGGCCCGCCGCCCCATGGGCCGAAGAAAATGATCGCACC
780068818	415056	NM_000255.3(MUT):c.454C>T (p.Arg152Ter)	MUT	Apr 14, 2017	MedGen:CN517202	not provided	germline	6	49457990	ACACATCGTGGCTATGATTCAGACAACCCTCGAGTTCGTGGTGATGTTGGAATGGCTGGAG
61750648	105336	NM_000350.2(ABCA4):c.6316C>T (p.Arg2106Cys)	ABCA4	Apr 08, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94001072	GAGCCCACCACAGGGATGGACCCCCAGGCACGCCGCATGCTGTGGAACGTCATCGTGAGCA
199476352	79017	NM_000487.5(ARSA):c.256C>T (p.Arg86Trp)	ARSA	Oct 10, 2016	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:CN517202	Metachromatic leukodystrophy;not provided	unknown	22	50627375	GCCGCCCTCCTGACCGGCCGGCTCCCGGTTCGGATGGGCATGTACCCTGGCGTCCTGGTGC
397515400	48034	NM_007171.3(POMT1):c.1241C>T (p.Thr414Met)	POMT1	Feb 07, 2013	MedGen:C1836373,OMIM:609308,Orphanet:ORPHA86812	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	germline	9	131513331	TCCACGGCATGACCACCCGCTCCCTGAACACGTGAGTGTGCCCGCCGTCTGCTCTGCTGCA
121913314	27612	NM_198291.2(SRC):c.1591C>T (p.Gln531Ter)	SRC	Jul 14, 2015	MedGen:C4016406;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006	Colon cancer, advanced;Neoplasm	somatic	20	37403359	GACTACTTCACGTCCACCGAGCCCCAGTACCAGCCCGGGGAGAACCTCTAGGCACAGGCGG
786205229	188147	NM_153816.5(SNX14):c.1132C>T (p.Arg378Ter)	SNX14	May 01, 2015	MedGen:C4225355,OMIM:616354,Orphanet:ORPHA397709	Spinocerebellar ataxia, autosomal recessive 20	germline	6	85543737	TTGTTAGAGGAATTTAATGATAGAATTTTACGACCAGAATTATCAAATGATGAAATGCTGT
199476096	23238	NM_001009944.2(PKD1):c.11512C>T (p.Gln3838Ter)	PKD1	Jan 01, 1996	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	Polycystic kidney disease, adult type	germline	16	2091806	GAGGAGAGCCGCGACCGGCTGCGCTTCCTGCAGCTGCACAACTGGCTGGACAACAGGTGGG
104894697	29869	NM_005543.3(INSL3):c.278C>T (p.Pro93Leu)	INSL3	Sep 01, 2003	Human Phenotype Ontology:HP:0000028,MedGen:C0010417,OMIM:219050	Cryptorchidism, unilateral or bilateral	germline	19	17816972	GTAATCTCACGCTGGGACCTGGCCTGCAGCCCCTGCCCCAGACCTCTCACCATCACCGCCA
121918327	16186	NM_152618.2(BBS12):c.1063C>T (p.Arg355Ter)	BBS12	Sep 08, 2017	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C1859570,OMIM:615989	Bardet-Biedl syndrome;Bardet-Biedl syndrome 12	germline;maternal	4	122742955	GTGATCAAGGAATTGCAGAATCAGCCTGTGCGAATAGTTCTCATTGAGGGTGACCTCACAG
28939720	20772	NM_201253.2(CRB1):c.2234C>T (p.Thr745Met)	CRB1	Oct 01, 1999	MedGen:C1838647,OMIM:600105;MedGen:CN517202	Retinitis pigmentosa 12;not provided	germline	1	197427559	ACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTT
753662330	433328	NM_000109.3(DMD):c.2461C>T (p.Gln821Ter)	DMD	Mar 09, 2017	MedGen:CN169374	not specified	germline	X	32491414	CTAAGTGAGAGACTTAACTGGCTGGAGTATCAGAACAACATCATCGCTTTCTATAATCAGC
398124480	102284	NM_138694.3(PKHD1):c.2452C>T (p.Gln818Ter)	PKHD1	Oct 05, 2015	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52046144	ATTTCTGCTCATCACCTTCACCAGCTCTTACAGAATAATGCCGATGACTTCACATCCAGGT
766317663	187095	NM_016035.4(COQ4):c.190C>T (p.Pro64Ser)	COQ4	Jun 07, 2016	MedGen:C4225392,OMIM:616276,Orphanet:ORPHA457185	Coenzyme Q10 deficiency, primary, 7	germline	9	128323135	GCCGGCTCCGCGGCGATGGCGCTCTATAACCCCTACCGCCACGGTAAGGCCGCCCGCGCCT
41298133	26887	NM_000260.3(MYO7A):c.700C>T (p.Gln234Ter)	MYO7A	Mar 11, 2010	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:C1848638	Usher syndrome, type 1;Usher syndrome, type 1B	germline	11	77156969	CGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTC
121917748	27914	NM_001040142.1(SCN2A):c.562C>T (p.Arg188Trp)	SCN2A	Apr 01, 2004	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927	Benign familial neonatal-infantile seizures	germline	2	165308751	GGCTTTTGTTTAGAAGATTTCACATTTTTACGGGATCCATGGAATTGGTTGGATTTCACAG
61732144	18865	NM_000017.3(ACADS):c.319C>T (p.Arg107Cys)	ACADS	Aug 07, 2017	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007;MedGen:CN517202	Deficiency of butyryl-CoA dehydrogenase;not provided	germline;unknown	12	120737094	GCCTACGCCATCGCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGA
121908015	18794	NM_000375.2(UROS):c.10C>T (p.Leu4Phe)	UROS	Jan 01, 1992	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125816490	TATAAGGACTGCCAGGCAATAATGAAGGTTCTTTTACTGAAGGATGCGAAGGAAGATGACT
864321711	217256	NM_172107.3(KCNQ2):c.2147C>T (p.Thr716Ile)	KCNQ2	-	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	maternal	20	63407116	CCGCGCCCCCTGTCCAGTGTCCGCCCTCCACCTCCTGGCAGCCACAGAGCCACCCGCGCCA
-1	446139	NM_152296.4(ATP1A3):c.2806C>T (p.Gln936Ter)	ATP1A3	Aug 08, 2017	MedGen:CN517202	not provided	germline	19	41968798	ATCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAAGTGAGGGCCGGGGGCAC
797044808	204265	NM_000084.4(CLCN5):c.100C>T (p.Arg34Ter)	CLCN5	Sep 25, 2014	MedGen:C1848336,OMIM:300009	Dent disease 1	germline	X	50070025	AGAGAGAAGTCTCGAGACCGGGATAGGCACCGAGAGGTAAGACAAAAGATGGCACATGGGT
1057518083	360017	NM_001376.4(DYNC1H1):c.2327C>T (p.Pro776Leu)	DYNC1H1	Nov 15, 2016	MedGen:CN517202	not provided	germline	14	101986552	ACAAAGCCCATCAAGCAAACCAGCTTTACCCGTTTGCCATCTCACTGATCGAGAGCGTTCG
61736969	167472	NM_014832.4(TBC1D4):c.2050C>T (p.Arg684Ter)	TBC1D4	Aug 14, 2014	MedGen:C4015183,OMIM:616087	Diabetes mellitus, noninsulin-dependent, 5	germline	13	75324385	TTTTCTGTACTCAGCAATCTTTCGTCAGTTCGACGCATGTACAAGGAGAGTAATTCTTCCT
1030017847	353996	NM_172107.3(KCNQ2):c.1053C>T (p.Leu351=)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63433874	GTCGGCCTGGAGATTCTACGCCACCAACCTCTCGCGCACAGACCTGCACTCCACGTGGCAG
200032855	185685	NM_030813.5(CLPB):c.803C>T (p.Thr268Met)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72358942	TGAACAACCGCGCCAGTTTCAAGGGCTGCACGGCCTTGCACTATGCTGTTCTTGCTGATGA
139607673	430990	NM_000463.2(UGT1A1):c.1006C>T (p.Arg336Trp)	UGT1A1	Jun 07, 2017	MedGen:CN119421,Orphanet:ORPHA205	Crigler-Najjar syndrome	inherited	2	233767858	TGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTG
-1	446742	NM_000206.2(IL2RG):c.421C>T (p.Gln141Ter)	IL2RG	Aug 28, 2017	MedGen:CN517202	not provided	germline	X	71110537	CAGCTCCAGGACCCACGGGAACCCAGGAGACAGGCCACACAGATGCTAAAACTGCAGAATC
267607203	20760	NM_194456.1(KRIT1):c.1363C>T (p.Gln455Ter)	KRIT1	Aug 07, 2017	MedGen:C1861784,OMIM:116860;MedGen:C1366911;MedGen:CN517202;MedGen:CN169374	Cerebral cavernous malformation;Cerebral cavernous malformations 1;not provided;not specified	germline	7	92222870	CAGCAGATAATGGAAGGAATGCGTCTCTCTCAAGAAACTCAGCAATATTTCACTATATGGA
764527706	432593	NM_000038.5(APC):c.6496C>T (p.Arg2166Ter)	APC	Jul 22, 2017	MedGen:CN517202	not provided	germline	5	112842090	GAAAAACCCTTTACAAGTAATAAAGGCCCACGAATTCTAAAACCAGGGGAGAAAAGTACAT
188017299	462205	NM_003482.3(KMT2D):c.12019C>T (p.Gln4007Ter)	KMT2D	Jun 29, 2017	MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:313426007	Kabuki syndrome	germline	12	49032686	CTTGGCCCTGGCATGCCAGCAAAGCCTCTTCAACACTTTTCTAGCCCTGGAGCCCTGGGTC
121908139	19456	NM_020919.3(ALS2):c.2143C>T (p.Gln715Ter)	ALS2	Feb 10, 2011	MedGen:C1846588,OMIM:607225	Infantile-onset ascending hereditary spastic paralysis	germline	2	201744285	TTCTATTCAAAACTAAGTGATATCAAATCTCAGATTCTCAGGCCTCTTCTCAGTTTAGGTA
1057519566	260445	NM_005918.3(MDH2):c.620C>T (p.Pro207Leu)	MDH2	Feb 08, 2017	MedGen:CN240510,OMIM:617339;Human Phenotype Ontology:HP:0007105,MedGen:C1856408	Epileptic encephalopathy, early infantile, 51;Infantile encephalopathy	germline;inherited	7	76063579	TTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCC
1057519312	361892	NM_139312.2(YME1L1):c.616C>T (p.Arg206Trp)	YME1L1	Feb 21, 2018	MedGen:C4310628,OMIM:617302	Optic atrophy 11	germline	10	27136371	GTATTGTTTTATTTAGTTTTCATACAGTCTCGGGGTTTTAAAACTTTGAAATCAAGGACAC
1085307405	414382	NM_000020.2(ACVRL1):c.199C>T (p.Arg67Trp)	ACVRL1	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51913236	CGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCT
72549369	17995	NM_000379.3(XDH):c.445C>T (p.Arg149Cys)	XDH	Apr 01, 2001	MedGen:C0268118,OMIM:278300,Orphanet:ORPHA93601,SNOMED CT:124147007	Deficiency of xanthine oxidase	germline	2	31397718	TTTTTTCCTTGGCCCACAGGAAATCTGTGCCGCTGCACAGGCTACAGACCCATCCTCCAGG
121918132	15479	NM_005581.4(BCAM):c.691C>T (p.Arg231Ter)	BCAM	Mar 01, 2007	MedGen:C4017284	BLOOD GROUP--LUTHERAN NULL	germline	19	44813527	ACCCTCTACCTGCGGCTCCGCAAGGATGACCGAGACGCCAGCTTCCACTGCGCCGCCCACT
120074167	18218	NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)	CDAN1	Jul 25, 2017	MedGen:C0271933,OMIM:224120,Orphanet:ORPHA98869,SNOMED CT:59548005;MedGen:CN517202	Congenital dyserythropoietic anemia, type I;not provided	germline	15	42730757	TGACTGAGCTCTGGCCCTCCCAGGTCCCTCCGGTCCTGGATGTGCGGACTCTGCTGCAGCG
45517340	59148	NM_000548.4(TSC2):c.4375C>T (p.Arg1459Ter)	TSC2	Nov 23, 2015	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2084597	TCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCAT
72664290	427065	NM_001171.5(ABCC6):c.600+23C>T	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16214301	AGCAGTCTGTAAGTCACCAAGTTCCAACCTCATTCCTGTTCCACTTTGAGGTCTCAGTCTC
972341316	469581	NM_001128849.1(SMARCA4):c.1141C>T (p.Arg381Ter)	SMARCA4	Jul 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C2750074,OMIM:613325	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	germline	19	10989339	GCTCCCAGGCTGCAGGCTCGCATCGCACACCGAATTCAGGAACTTGAAAACCTTCCCGGGT
1135401733	263009	NM_031844.2(HNRNPU):c.1714C>T (p.Arg572Ter)	HNRNPU	Oct 26, 2016	Human Phenotype Ontology:HP:0200134,MedGen:C0543888	Epileptic encephalopathy	de novo	1	244856757	TGTCTTGGGAAATTTATTGAGATTGCTGCCCGAAAGAAGCGAAATTTTATTCTGGATCAGG
764742792	417115	NM_019098.4(CNGB3):c.1063C>T (p.Arg355Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86643866	TTTGCATCTATTCTCTCTGACAGAGTTATTCGAACAACTGGATACTTGCTGTTTATTCTGC
63750899	32136	NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser)	MLH1	Sep 06, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome II;Turcot syndrome	germline	3	37048562	GGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTC
1085307859	414820	NM_018328.4(MBD5):c.688C>T (p.Gln230Ter)	MBD5	Mar 24, 2017	MedGen:CN517202	not provided	germline	2	148468631	GGCCTGCCCAGCCCAGCGTCATCAGGTTCCCAGATATATGGAGATGGTTCAATCTCTCCAA
770501034	244526	NM_018972.2(GDAP1):c.769C>T (p.Arg257Ter)	GDAP1	Apr 12, 2016	MedGen:CN517202	not provided	germline	8	74364059	GCAGACGTCTCACTCGCTGTCACATTGCATCGACTGAAGTTCCTGGGGTTTGCAAGGAGAA
387906798	39122	NM_001244008.1(KIF1A):c.764C>T (p.Ala255Val)	KIF1A	Jun 01, 2015	MedGen:C1835896,OMIM:610357,Orphanet:ORPHA101010	Spastic paraplegia 30, autosomal recessive	germline	2	240783773	GCCTGGTGGACCTGGCTGGGAGCGAGCGGGCTGACTCCACGGGAGCCAAGGGCACGCGCCT
104894834	38452	NM_000169.2(GLA):c.334C>T (p.Arg112Cys)	GLA	Mar 09, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;Fabry disease;not provided	germline	X	101403846	TCAGAAGGCAGACTTCAGGCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTA
202060209	31158	NM_006516.2(SLC2A1):c.274C>T (p.Arg92Trp)	SLC2A1	Sep 13, 2017	MedGen:C1842534,OMIM:612126,Orphanet:ORPHA98811;MedGen:CN517202	GLUT1 deficiency syndrome 2;not provided	germline	1	42931047	TCTGTGGGCCTTTTCGTTAACCGCTTTGGCCGGTAAGTAGGAGAGGTCCTGGCACTGCCCT
753933273	207363	NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter)	ARID1B	Aug 14, 2017	MedGen:C3281201,OMIM:614562;MedGen:CN517202	Mental retardation, autosomal dominant 12;not provided	germline	6	157084773	AGCAGCCAAGGGGATCAGAGCAACCCGGCGCAGTCGCCTTTCTCCCCACATGCGTCCCCTC
386834034	71243	NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter)	POMGNT1	Jun 14, 2017	MedGen:C3150412,OMIM:613151;MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001;MedGen:CN517202	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Muscle eye brain disease;not provided	germline;inherited	1	46194853	GGCTGGAGGGACACATGGGCCTTCGTGGGACGAAAAGGAGGTGCCGGCATCAGAGGCCATC
1057518750	359146	NM_138773.3(SLC25A46):c.998C>T (p.Pro333Leu)	SLC25A46	Jan 14, 2017	MedGen:C4225302,OMIM:616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	germline	5	110761523	CCAGTCTTTGTTCTGACGTTATACTTTACCCATTGGAAACAGTTTTGCACCGCCTTCACAT
1057518128	360144	NM_001271.3(CHD2):c.340C>T (p.Arg114Ter)	CHD2	Aug 05, 2016	MedGen:CN517202	not provided	germline	15	92927289	CCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATA
118203680	58103	NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter)	TSC1	Nov 19, 2016	MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 1;Tuberous sclerosis syndrome	germline	9	132902655	ATGGTAACCAAGCTCCACAGCCAGATCAGACAGCTGCAGCATGACCGAGAGGAATTCTACA
587776939	48500	NM_020964.2(EPG5):c.4588C>T (p.Gln1530Ter)	EPG5	Feb 14, 2013	MedGen:C1855772,OMIM:242840,Orphanet:ORPHA1493	Absent corpus callosum cataract immunodeficiency	germline	18	45901054	CCAGTTATTTCCTCTGCTGTGCTATTGAGTCAGAAGGACGCCACCCAGCTGGTGTGCACAG
886041128	265168	NM_000044.4(AR):c.1822C>T (p.Arg608Ter)	AR	Aug 01, 2016	MedGen:CN517202	not provided	germline	X	67686063	AGCAGAAATGATTGCACTATTGATAAATTCCGAAGGAAAAATTGTCCATCTTGTCGTCTTC
1114167449	419013	NM_025139.5(ARMC9):c.1559C>T (p.Pro520Leu)	ARMC9	Nov 20, 2017	MedGen:CN262509;MedGen:CN399089,OMIM:617622	ARMC9-related Joubert syndrome;JOUBERT SYNDROME 30	germline;maternal	2	231282066	TGGTTTTTTTCCTCCCCTTAAAGATACAGCCGTATGTGAATGGAGCTCTGTACAGCATCCT
1057517829	359421	NM_000348.3(SRD5A2):c.542C>T (p.Pro181Leu)	SRD5A2	Mar 23, 2015	MedGen:CN517202	not provided	germline	2	31531376	GGAAGCCTGGAGAAATCAGCTACAGGATTCCACAAGGTAATGTCTCCCCTGCCCCCAGACT
398122966	96872	NM_001199107.1(TBC1D24):c.118C>T (p.Arg40Cys)	TBC1D24	Dec 22, 2014	MedGen:C1857345,OMIM:220500	Digitorenocerebral syndrome	germline	16	2496266	ACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCC
587781756	151166	NM_002878.3(RAD51D):c.451C>T (p.Gln151Ter)	RAD51D	Sep 26, 2017	MedGen:C3280345,OMIM:614291;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	35107017	CTGACAGCTTCCCGCCTCCTCCAGCTGCTTCAGGCTAAAACCCAGGATGAGGAGGAACAGG
758004953	273730	NM_000293.2(PHKB):c.1546C>T (p.Gln516Ter)	PHKB	Jul 14, 2016	MedGen:C0543514,OMIM:261750,Orphanet:ORPHA79240	Glycogen storage disease IXb	germline	16	47641630	CTTCAAGTTTTTCTGAACACATATGGTATTCAAACTCAAACTCCTCAACAAGTAGAACCCA
750095738	273494	NM_000271.4(NPC1):c.3229C>T (p.Arg1077Ter)	NPC1	Jul 05, 2016	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23536689	GAAACCATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGGTAAAGCCTGCCCT
144809928	259931	NM_000197.1(HSD17B3):c.845C>T (p.Pro282Leu)	HSD17B3	May 05, 2016	MedGen:C0033804;MedGen:CN517202	Pseudohermaphroditism;not provided	germline	9	96235548	TGTTTAAGGCGGGCTTTCTGAGCCTGATCCCGGCCTGGGCCTTCTACAGCGGTGCCTTCCA
794726839	187728	NM_001165963.1(SCN1A):c.4985C>T (p.Ala1662Val)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	165992290	GAGCAAAGGGGATCCGCACGCTGCTCTTTGCTTTGATGATGTCCCTTCCTGCGTTGTTTAA
1060499792	389235	NG_008835.1:g.285670C>T	CDH23	Jun 04, 2016	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71677616	ATCAATGTGTTGGATGTCAACGACAACGTGCCCACCTTCCAGAAGGATGCCTACGTGGGTG
139644798	260554	NM_002887.3(RARS):c.1367C>T (p.Ser456Leu)	RARS	-	MedGen:C4015323,OMIM:616140,Orphanet:ORPHA438114	Leukodystrophy, hypomyelinating, 9	germline	5	168510601	CATTTTTTAGGAAAAAGTTTAAAACACGTTCGGGTGAAACAGTGCGCCTCATGGATCTTCT
794726739	187701	NM_001165963.1(SCN1A):c.5674C>T (p.Arg1892Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	165991601	ATGGATGCTCTACGAATACAGATGGAAGAGCGATTCATGGCTTCCAATCCTTCCAAGGTCT
-1	445848	NM_018488.3(TBX4):c.709C>T (p.Gln237Ter)	TBX4	Jul 21, 2017	MedGen:CN517202	not provided	germline	17	61479887	ACCCTATGTGTTTTCTCCCCACAGATCACCCAGCTGAAAATTGAGAACAACCCTTTTGCCA
387906612	38618	NM_005266.6(GJA5):c.145C>T (p.Gln49Ter)	GJA5	Oct 01, 2010	MedGen:C3279693,OMIM:614049	Atrial fibrillation, familial, 11	germline	1	147759094	ACAGCTGCTGAGTCTTCCTGGGGGGATGAGCAGGCTGATTTCCGGTGTGATACGATTCAGC
397508037	67420	NM_000059.3(BRCA2):c.9109C>T (p.Gln3037Ter)	BRCA2	Apr 22, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32379905	TTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATT
-1	445703	NM_144997.6(FLCN):c.649C>T (p.Gln217Ter)	FLCN	Sep 01, 2017	MedGen:CN517202	not provided	germline	17	17222631	GTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCA
281874741	36084	NM_000495.4(COL4A5):c.4501C>T (p.Gln1501Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108687685	TATGTACAAGGAAATAAAAGAGCCCACGGTCAAGACTTGGGTGAGATAATCAATATCTAAT
121917755	27827	NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)	SDHB	Jan 01, 2004	Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Pheochromocytoma	somatic	1	17028724	AATGTGTGTCTCTTTCAGGCATCTGTGGCTCTTGTGCAATGAACATCAATGGAGGCAACAC
267606990	28388	NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile)	PTPN11	Feb 10, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:CN517202	Noonan syndrome;Noonan syndrome 1;not provided	germline	12	112419116	TCGCGGAGCCGGAGGGCGGGAGGAACATGACATCGCGGAGGTGAGGAGCCCCGAGGGGCCC
63750488	96660	NM_000251.2(MSH2):c.715C>T (p.Gln239Ter)	MSH2	Apr 18, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I	germline;unknown	2	47412483	AAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAA
876658770	233438	NM_005732.3(RAD50):c.3715C>T (p.Arg1239Ter)	RAD50	Aug 07, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132640768	GCCTTGGATGAGCCAACAACAAATCTTGACCGAGAAAACATTGAATCTCTTGCACATGCTC
-1	485471	NM_032043.2(BRIP1):c.2218C>T (p.Gln740Ter)	BRIP1	Nov 16, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61744471	GGAGAAAAAACAAATTTTGATGAATTACTGCAGGTGTACTATGACGCAATCAAATACAAAG
886041321	264821	NM_004614.4(TK2):c.103C>T (p.Gln35Ter)	TK2	Aug 10, 2016	MedGen:CN517202	not provided	germline	16	66549959	CCGGCCTCAGGCCCCGGGCCGCGGAGGGTGCAGCGCCGGGCCTGGCCTCCCGGTAACGCGC
137852896	17802	NM_024312.4(GNPTAB):c.310C>T (p.Gln104Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	germline	12	101789951	CAGCAGGTCAGAGAACAGATGGAGGAGGAGCAGAAAGCAATGAGGTAAAACTGATTTTTTT
398123117	98252	NM_000038.5(APC):c.2365C>T (p.Gln789Ter)	APC	Jun 16, 2016	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112837959	TTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATT
132630329	25984	NM_001205019.1(GK):c.1255C>T (p.Arg419Ter)	GK	Aug 01, 1998	MedGen:C0268418,OMIM:307030,Orphanet:ORPHA308993,SNOMED CT:124322002	Deficiency of glycerol kinase	germline	X	30720639	GGTTTATTTAAGATTTTGGATGCCATGAATCGAGACTGTGGAATTCCACTCAGTCATTTGC
121918141	15695	NM_000312.3(PROC):c.1042C>T (p.Arg348Ter)	PROC	Aug 01, 1992	MedGen:C2674321,OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	germline	2	127428602	CTCGTGACGGGCTGGGGCTACCACAGCAGCCGAGAGAAGGAGGCCAAGAGAAACCGCACCT
863223850	209625	NM_003242.5(TGFBR2):c.1279C>T (p.Pro427Ser)	TGFBR2	May 18, 2015	MedGen:CN517202	not provided	germline	3	30674129	CTATAGGTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAGAATCCAGGATGAATTTGG
-1	466468	NM_004380.2(CREBBP):c.1447C>T (p.Arg483Ter)	CREBBP	May 16, 2017	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3782810	CCAAATCCCATAGACCCCAGCTCCATGCAGCGAGCCTATGCTGCTCTCGGACTCCCCTACA
755946598	361761	NM_007198.3(PLPBP):c.260C>T (p.Pro87Leu)	PLPBP	Jan 07, 2017	MedGen:C4310632,OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	germline	8	37766296	CTTTTTCCCCTCAGATTCTGTCTTTGTGTCCTGAGATCAAATGGCACTTCATTGGCCACCT
-1	441047	NM_000083.2(CLCN1):c.949C>T (p.Arg317Ter)	CLCN1	Jan 22, 2014	MedGen:CN517202	not provided	germline	7	143330867	TTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGAACAAGGATGCTG
28936388	23625	NM_000339.2(SLC12A3):c.625C>T (p.Arg209Trp)	SLC12A3	Jan 01, 1996	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	germline	16	56870119	CTGATAGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGGCTCCA
1085307109	227733	NM_205768.2(ZBTB18):c.133C>T (p.Arg45Ter)	ZBTB18	Feb 09, 2016	MedGen:CN517202	not provided	germline	1	244053907	TGCACTGTTCTGGTGGGAGATGCCCAGTTCCGAGCGCACCGAGCTGTACTGGCTTCATGCA
62625307	69596	NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter)	BRCA1	Jun 28, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43091933	CCTAGCCCTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAG
121434608	26666	NM_001493.2(GDI1):c.208C>T (p.Arg70Ter)	GDI1	Jun 01, 1998	MedGen:C3887939,OMIM:300849	X-Linked Mental Retardation 41	germline	X	154438819	GAGGGGCCCCCTGAGTCGATGGGCCGAGGCCGAGACTGGAATGTTGACCTGATTCCCAAAT
761493155	203854	NM_000026.3(ADSL):c.1009C>T (p.Arg337Ter)	ADSL	Mar 13, 2014	MedGen:CN517202	not provided	germline	22	40361634	TTTGAACGCACACTGGATGATAGTGCCAACCGGTCAGTGGCACAGGGACATCACATACACC
201740530	94263	NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter)	SPAG1	Apr 19, 2017	MedGen:C3809706,OMIM:615505;MedGen:C3554306,OMIM:615005;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia, primary, 28;Epilepsy, nocturnal frontal lobe, 5;Kartagener syndrome	germline	8	100233436	GCCAGAGCTCTCTGTTACTTGAAGCTGTGCCAGTTTGAAGAAGCAAAGCAGGACTGTGATC
766500689	264009	NM_145861.2(EDARADD):c.196C>T (p.Arg66Ter)	EDARADD	May 02, 2016	MedGen:CN517202	not provided	germline	1	236427427	GAATGTGATACAATTACTTTGAACTGCCCACGAAATTCAGATATGAAAAATCAGGTAAGAA
121909795	22790	NM_001017535.1(VDR):c.454C>T (p.Gln152Ter)	VDR	Jul 01, 1993	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47857512	ACCTACGACCCCACCTACTCCGACTTCTGCCAGTTCCGGGTATGTCTGCCTGCTGGGAGGA
398123106	98232	NM_000033.3(ABCD1):c.1771C>T (p.Arg591Trp)	ABCD1	Jun 08, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002;MedGen:CN517202	Adrenoleukodystrophy;not provided	germline	X	153740710	GACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCA
759109699	245772	NM_000527.4(LDLR):c.760C>T (p.Gln254Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11106630	TCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACA
398123027	65573	NM_052961.3(SLC26A8):c.2860C>T (p.Arg954Cys)	SLC26A8	May 02, 2013	Gene:338331,MedGen:C1847540,OMIM:606766	Spermatogenic failure 3	germline	6	35943953	CAGACTCGGACATGGTCAGTGGAGAGGAGACGCCATCCTATGGATTCATACTCACCAGAGG
104894312	27475	NM_003282.3(TNNI2):c.466C>T (p.Arg156Ter)	TNNI2	Nov 25, 2015	Human Phenotype Ontology:HP:0001848,MedGen:C1860450;Human Phenotype Ontology:HP:0005879,MedGen:C1393871;Human Phenotype Ontology:HP:0005684,MedGen:C0265213,Orphanet:ORPHA97120;MedGen:C1834523,OMIM:601680,Orphanet:ORPHA1147;Human Phenotype Ontology:HP:0003049,MedGen:C0231678;MedGen:CN517202	Calcaneovalgus deformity;Congenital finger flexion contractures;Distal arthrogryposis;Distal arthrogryposis type 2B;Ulnar deviation of the wrist;not provided	germline;somatic;unknown	11	1841468	CTGCCCTCTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGGAGGAAGAACATCG
193302873	40513	NM_002615.6(SERPINF1):c.1132C>T (p.Gln378Ter)	SERPINF1	Mar 11, 2011	MedGen:C3279564,OMIM:613982;MedGen:CN517202	Osteogenesis imperfecta, type VI;not provided	germline;unknown	17	1777321	GGGGCGGGAACCACCCCCAGCCCAGGGCTGCAGCCTGCCCACCTCACCTTCCCGCTGGACT
777458559	414330	NM_001204.6(BMPR2):c.1771C>T (p.R591*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202555436	GAAAAAAACCGAAATTCAATTAACTATGAACGACAGCAAGCACAAGCTCGAATCCCCAGCC
769183311	380479	NM_001145860.1(POP1):c.1573C>T (p.Pro525Ser)	POP1	Apr 10, 2017	MedGen:CN241834,OMIM:617396	Anauxetic dysplasia 2	germline	8	98140867	AATTTGCCCCAAAAGAAGTCCAAAGCTTTGCCCAATCCAGAAAAATGCCAAGGTAAAGTTC
398123757	100145	NM_003482.3(KMT2D):c.7066C>T (p.Gln2356Ter)	KMT2D	Nov 30, 2012	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49040704	GGCCTAAGGCCCCAGGAGCCACCCCCTGCCCAGGCTTTGGCACCTTCTCCTCCAAGTCACC
114368325	38634	NM_000782.4(CYP24A1):c.1186C>T (p.Arg396Trp)	CYP24A1	Jul 01, 2015	MedGen:C0268080,OMIM:143880,SNOMED CT:34225008;Human Phenotype Ontology:HP:0003394,MedGen:C0026821	Idiopathic hypercalcemia of infancy;Muscle cramps	germline;unknown	20	54158136	AGGCTTACGCCGAGTGTACCATTTACAACTCGGACTCTTGACAAGGCAACAGTTCTGGGTG
1060500363	402309	NM_000267.3(NF1):c.79C>T (p.Gln27Ter)	NF1	Oct 31, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31156001	TTTTTTTTTCAGCTTCCAATAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTG
138358708	226676	NM_001163673.1(WDR81):c.388C>T (p.Arg130Ter)	WDR81	Aug 24, 2017	Gene:780925,MedGen:C2750234,OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	germline	17	1731098	GTGGCCCCAGGGAGTGCCTCAGGCCCCAGCCGACTGAACAGCCGTAAGGAGGCGGGGCTGC
104893668	20595	NM_003896.3(ST3GAL5):c.862C>T (p.Arg288Ter)	ST3GAL5	May 01, 2013	MedGen:C1836824,OMIM:609056,Orphanet:ORPHA171714	Amish infantile epilepsy syndrome	germline	2	85844542	CTTGCTTGCTTTCCTTAGCCATTCTGGGTACGACTCTTCTTTTGGAAGCAGGTGGCAGAAA
61750172	24394	NM_000180.3(GUCY2D):c.2512C>T (p.Arg838Cys)	GUCY2D	Dec 15, 2017	MedGen:C1866293,OMIM:601777;MedGen:C1866293,OMIM:601777;MedGen:CN517202	Cone-rod dystrophy 6;Cone-rod dystrophy 6;not provided	germline	17	8014700	TCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGA
-1	474083	NM_005732.3(RAD50):c.1093C>T (p.Arg365Ter)	RAD50	Jul 31, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C2751318,OMIM:613078,Orphanet:ORPHA240760	Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder	germline;unknown	5	132588728	CTGCAAGCAGATCGCCATCAAGAACATATCCGAGCTAGAGATTCATTAATTCAGTCTTTGG
1064794303	411258	NM_000444.5(PHEX):c.151C>T (p.Gln51Ter)	PHEX	Feb 03, 2017	MedGen:CN517202	not provided	germline	X	22038501	AGTCAAGGTCTCTTAAGTCTCCAAGCTAAACAGGAGTACTGCCTGAAGCCAGAATGCATCG
104894138	16824	NM_000102.3(CYP17A1):c.286C>T (p.Arg96Trp)	CYP17A1	Sep 26, 2016	MedGen:CN042980;MedGen:C0268285,OMIM:202110,SNOMED CT:124220008;MedGen:CN517202	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency;Deficiency of steroid 17-alpha-monooxygenase;not provided	germline	10	102837076	CTTATTAAGAAGGGCAAGGACTTCTCTGGGCGGCCTCAAATGGTAAGTGGTGCCCATCTCC
370115218	221609	NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter)	SH3TC2	Nov 16, 2017	MedGen:CN043578;MedGen:CN517202	Charcot-Marie-Tooth disease, type IV;not provided	germline	5	149012634	AAGGCTGCTGAGGCCTGGCTTGGGGCGGGGCGACTCCACTACCTCATGCAGGAAGACGAGC
886039536	260311	NM_004006.2(DMD):c.3259C>T (p.Gln1087Ter)	DMD	Sep 01, 2017	MedGen:CN517202	not provided	germline	X	32464603	GCCCTTGGGGATTCAGAAATTCTAAAAAAGCAGCTGAAACAGTGCAGAGTAAGATTTTTAT
104894695	19323	NM_021175.3(HAMP):c.166C>T (p.Arg56Ter)	HAMP	Jan 01, 2003	MedGen:C1865616,OMIM:613313	Hemochromatosis type 2B	germline	19	35284953	CCTTCCTTCCCACAGCCCATGTTCCAGAGGCGAAGGAGGCGAGACACCCACTTCCCCATCT
199422168	34446	NM_018136.4(ASPM):c.6232C>T (p.Arg2078Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197103019	GCTTCAGCTATTATAATTCAGAGATGGTATCGAGGTATTAAAATTACAAACCATCAGCATA
-1	481483	NM_015093.5(TAB2):c.1321C>T (p.Arg441Ter)	TAB2	Dec 07, 2017	MedGen:C3150216,OMIM:614980	Congenital heart defects, multiple types, 2	de novo	6	149379236	GCCTTTATTCATCACCATCCTCCCAAAAGTCGAGCAATAGGCAATAACTCTGCAACCTCTC
61755814	104593	NM_000322.4(PRPH2):c.715C>T (p.Gln239Ter)	PRPH2	Sep 04, 2015	MedGen:CN517202	not provided	germline	6	42704478	AACAACTCAGCACACTACAGTTACGACCACCAGACGGAGGAGCTCAACCTGTGGGTGCGTG
863224473	212226	NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter)	MSH6	Feb 09, 2015	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47799028	GCTTTCTCTGCCCCTCAAAATTCTGAATCCCAAGCCCACGTTAGTGGAGGTGGTGATGACA
104894630	21217	NM_004589.3(SCO1):c.521C>T (p.Pro174Leu)	SCO1	Nov 01, 2000	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	17	10692805	TTGGCTTCACTCATTGCCCTGATGTCTGTCCAGAAGAACTAGAAAAGATGATTCAAGTCGT
796053418	203505	NM_001083962.1(TCF4):c.1570C>T (p.Gln524Ter)	TCF4	Jun 17, 2014	MedGen:CN517202	not provided	germline	18	55232588	AAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAAT
113994091	33125	NM_004304.4(ALK):c.3452C>T (p.Thr1151Met)	ALK	Oct 02, 2014	Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700;MedGen:C2751681,OMIM:613014	Neuroblastoma;Neuroblastoma 3	germline;somatic	2	29222407	TCCTCCCCACCCTCCCCTTCTCTGCCCAGACGCTGCCTGAAGTGTGCTCTGAACAGGACGA
121913554	29412	NM_000302.3(PLOD1):c.2008C>T (p.Arg670Ter)	PLOD1	Dec 21, 2017	MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED CT:25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient	germline	1	11972977	TCCACCTTCACCATCAACATCGCCCTGAACCGAGTCGGGGTGGATTACGAGGTGAGCAGGA
62642935	98660	NM_000277.2(PAH):c.926C>T (p.Ala309Val)	PAH	May 26, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102846938	TTTTCCCCCAATTACAGGAAATTGGCCTTGCCTCTCTGGGTGCACCTGATGAATACATTGA
1060505041	404685	NM_052876.3(NACC1):c.892C>T (p.Arg298Trp)	NACC1	Sep 01, 2017	MedGen:CN241829,OMIM:617393;MedGen:CN517202	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination;not provided	de novo;germline	19	13136099	GGTGGCGAGGAGGGCATGGATGAGCAGTACCGGCAGATCTGCAACATGTACACCATGTACA
796052414	207420	NM_018100.3(EFHC1):c.826C>T (p.Arg276Ter)	EFHC1	Jan 30, 2015	na	Myoclonic epilepsy, juvenile 1	germline	6	52454197	TACTATCTTATGGATGATACGGTGGAAATTCGAGAGGTCCACGAACGGAATGATGGGAGAG
281864782	49806	NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter)	PRKAR1A	Sep 20, 2012	MedGen:C2607929,OMIM:160980	Carney complex, type 1	not provided	17	68515523	AAAGATTCTATTGTGCAGTTGTGCACTGCTCGACCTGAGAGACCCATGGCATTCCTCAGGG
200976093	132835	NM_000051.3(ATM):c.3931C>T (p.Gln1311Ter)	ATM	Sep 26, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108284411	GAGGGTACCAGAGACAGTGGGATGGCACAGCAAAGAGAGACTGCTACCAAGGTCTATGATA
879254805	246011	NM_000527.4(LDLR):c.1150C>T (p.Gln384Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111603	GGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGG
147948835	130987	NM_020207.4(ERCC6L2):c.1963C>T (p.Arg655Ter)	ERCC6L2	Feb 06, 2014	MedGen:C3810350,OMIM:615715,Orphanet:ORPHA401764	Bone marrow failure syndrome 2	germline	9	95955996	TTGGGAACTGTGGAGGAAATCATGTATTTACGACAGATATACAAGCAGGTAAATATGTTTC
200373703	373823	NM_015087.4(SPART):c.1369C>T (p.Arg457Ter)	SPART	Jun 09, 2015	MedGen:CN517202	not provided	germline	13	36314341	AAGGCAATCCAGAAAGGTGCTTCTAAACTCCGAGAGCGGATTCAACCAGAAGAAAAACCCG
199469464	39865	NM_006662.2(SRCAP):c.7330C>T (p.Arg2444Ter)	SRCAP	Mar 17, 2017	MedGen:C0729582,OMIM:136140,Orphanet:ORPHA2044,SNOMED CT:312214005;MedGen:CN517202	Floating-Harbor syndrome;not provided	germline	16	30737370	GAGCGAGTTCCCAGGCCAGCACCTAGGCCTCGACCCACTCCAGCTTCAGCTCCGGCTGCAA
121908645	21372	NM_000050.4(ASS1):c.835C>T (p.Arg279Ter)	ASS1	Aug 22, 2014	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline;unknown	9	130480446	GTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGC
147816470	244160	NM_003172.3(SURF1):c.586C>T (p.Gln196Ter)	SURF1	Oct 12, 2017	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:CN517202	Leigh syndrome;not provided	germline	9	133352696	AAAGTGAATCCTGAAACCCGGCAGAAAGGCCAGGTAAGGGACATGGACTCTTCCTACTTTA
1131690915	420510	NM_000321.2(RB1):c.277C>T (p.Gln93Ter)	RB1	Jun 09, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48342611	TTTATTTTTTGTTCCCAGGGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTA
121918165	16007	NM_181714.3(LCA5):c.835C>T (p.Gln279Ter)	LCA5	Jun 14, 2016	MeSH:D030342,MedGen:C0950123;MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;MedGen:C1858301,OMIM:604537	Inborn genetic diseases;Leber congenital amaurosis;Leber congenital amaurosis 5	germline	6	79493636	GATGAAAATAAAGTTCTTCAAAAGGAGGTACAGCGACTATATCACAAATTAAAGGTAAGTA
72558472	103262	NM_000531.5(OTC):c.953C>T (p.Ser318Phe)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411947	CAGAAGAAGTGGATGATGAAGTCTTTTATTCTCCTCGATCACTAGTGTTCCCAGAGGCAGA
769080151	210409	NM_000071.2(CBS):c.1135C>T (p.Arg379Trp)	CBS	Jan 06, 2015	MedGen:CN517202	not provided	germline	21	43060451	CGCTGCGTGGTCATTCTGCCCGACTCAGTGCGGAACTACATGTAAGACACGGCTTCCCTCC
397508227	67950	NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117559644	TATAGATACAGAAGCGTCATCAAAGCATGCCAACTAGAAGAGGTAAGAAACTATGTGAAAA
199472990	78275	NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp)	KCNH2	Jan 03, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150950312	CCCTTCCGAGGGGCCACCAAGGGCTGCCTTCGGGCCCTGGCCATGAAGTTCAAGACCACAC
149010496	404634	NM_006438.4(COLEC10):c.25C>T (p.Arg9Ter)	COLEC10	Apr 13, 2017	MedGen:C0796032,OMIM:248340	Malpuech facial clefting syndrome	germline	8	119067306	ACAGCAATGAATGGCTTTGCATCCTTGCTTCGAAGAAACCAATTTATCCTCCTGGTACTAT
72657393	240068	NM_001277115.1(DNAH11):c.10324C>T (p.Gln3442Ter)	DNAH11	Jan 16, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21808041	CTGGTGCACTGCAAGTGGGTTCCCTTTCTTCAACAGAAGGTAAGTTCAGTTCCTTACCTTG
869312923	226909	NM_017890.4(VPS13B):c.2410C>T (p.Gln804Ter)	VPS13B	Mar 31, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	8	99192952	CCAAATCTCACAATTCAAGCTACAAGAGCACAGACACTTCTCTTGCAAGCAATATATCAAA
730882144	181188	NM_031433.3(MFRP):c.1549C>T (p.Arg517Trp)	MFRP	Feb 27, 2015	MedGen:C1970236,OMIM:611040,Orphanet:ORPHA251279	Microphthalmia, isolated 5	germline	11	119341739	CTGACAAGCCTGCCCTGCTACCAGCATTTCCGGAGGCTCCTGTGTGGGCTGCTTGTGCCCC
121918172	15932	NM_000181.3(GUSB):c.1856C>T (p.Ala619Val)	GUSB	Jan 01, 1991	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65960997	TCACTCGGCAGAGACAACCAAAAAGTGCAGCGTTCCTTTTGCGAGAGAGATACTGGAAGAT
281864783	49810	NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter)	PRKAR1A	Mar 14, 2016	MedGen:C2607929,OMIM:160980	Carney complex, type 1	germline	17	68522864	CCACCCAACCCAGTGGTTAAAGGTAGGAGGCGACGAGGTGCTATCAGCGCTGAGGTCTACA
121908867	21479	NM_000369.2(TSHR):c.970C>T (p.Gln324Ter)	TSHR	Dec 01, 1996	MedGen:C3493776,OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1	germline	14	81143028	TCTGTGAATGCCTTGAATAGCCCCCTCCACCAGGAATATGAAGAGAATCTGGGTGACAGCA
137854450	31784	NM_001972.3(ELANE):c.377C>T (p.Ser126Leu)	ELANE	Dec 21, 2016	MedGen:C1859966,OMIM:202700;MedGen:CN169374	Severe congenital neutropenia autosomal dominant;not specified	germline	19	855574	ATCTGTCCCCACCGCCACAGCTCAACGGGTCGGCCACCATCAACGCCAACGTGCAGGTGGC
879255114	246474	NM_000527.4(LDLR):c.2032C>T (p.Gln678Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120414	GAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCA
730880082	178554	NM_004415.3(DSP):c.2821C>T (p.Arg941Ter)	DSP	Jan 17, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:CN221565;Human Phenotype Ontology:HP:0001695,MedGen:C0018790;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia/cardiomyopathy;Cardiac arrest;not provided	germline	6	7576986	TAGAACTTGCACAGTGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAAAAATTG
587777425	137087	NM_015726.3(DCAF8):c.949C>T (p.Arg317Cys)	DCAF8	Mar 11, 2014	MedGen:C1864695,OMIM:610100	Giant axonal neuropathy 2, autosomal dominant	germline	1	160237145	GTTGTTTTCACCATTGACCTGAGACAAGACCGCCCAGCGTCGTAAGTGTAGCAGTAATATC
869025591	224824	NM_001039590.2(USP9X):c.3763C>T (p.Gln1255Ter)	USP9X	Mar 01, 2016	MedGen:C4225416,OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	germline	X	41188070	ATTATCTGGGCATCAGGATGTGGGTCGTTACAGCTAGTATTTAGCCCAAATGAAGAAATCA
104894625	23484	NM_000304.3(PMP22):c.65C>T (p.Ser22Phe)	PMP22	Oct 18, 2012	MedGen:C0270911,OMIM:118220,Orphanet:ORPHA101081,SNOMED CT:40632002;MedGen:C0393814,OMIM:162500,Orphanet:ORPHA640,SNOMED CT:230558006	Charcot-Marie-Tooth disease, type IA;Hereditary liability to pressure palsies	germline	17	15260663	ACGTCGCGGTGCTGGTGCTGCTGTTCGTCTCCACGATCGTCAGCGTGAGTGCCTGGCGGGG
368166217	98431	NM_000155.3(GALT):c.772C>T (p.Arg258Cys)	GALT	Mar 15, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN517202	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided	germline	9	34648846	ACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGA
532480170	132874	NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter)	ATM	Jul 14, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108316015	GCTATTTTCACAATCTTTTCTTATAGACTACGAACATATGAACACGAAGCAATGTGGGGCA
1051597475	480599	NM_015312.3(KIAA1109):c.2902C>T (p.Arg968Cys)	KIAA1109	Jan 11, 2018	MedGen:CN737163,OMIM:617822	ALKURAYA-KUCINSKAS SYNDROME	germline	4	122226815	TCAGTTATAATATGTCAGCATGGAATTGATCGTCGGTTCTGTGAATCCAAGGTATATTAAC
104893741	19892	NM_023067.3(FOXL2):c.655C>T (p.Gln219Ter)	FOXL2	Nov 03, 2016	MedGen:C0220663,OMIM:110100,Orphanet:ORPHA126;MedGen:C2931135	Blepharophimosis, ptosis, and epicanthus inversus;Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1	germline	3	138946068	CCTCCCTCACCCATGCCCTATGCCTCCTGCCAGATGGCGGCAGCCGCAGCGGCTGCAGCAG
1057519374	226667	NM_152754.2(SEMA3D):c.1738C>T (p.Pro580Ser)	SEMA3D	Mar 01, 2016	Human Phenotype Ontology:HP:0000408,MedGen:C1843156	Progressive sensorineural hearing impairment	inherited	7	85012812	GCTAGACGCCAAGATGTAAAATATGGCGACCCAATCACCCAGTGCTGGGACATCGAAGACA
28935489	25776	NM_000169.2(GLA):c.890C>T (p.Ser297Phe)	GLA	Dec 01, 1993	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398479	GGGCTATCATGGCTGCTCCTTTATTCATGTCTAATGACCTCCGACACATCAGCCCTCAAGC
121909731	31161	NM_005271.4(GLUD1):c.1493C>T (p.Ser498Leu)	GLUD1	Aug 14, 2014	MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878;MedGen:CN517202	Hyperinsulinism-hyperammonemia syndrome;not provided	germline	10	87057692	TACCCACGGCAGAGTTCCAAGACAGGATATCGGTGAGTGTGGTGACCCCACAGTTGTACTT
121908475	20848	NM_139025.4(ADAMTS13):c.2074C>T (p.Arg692Cys)	ADAMTS13	Oct 04, 2001	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133442504	CCACGGCAGGCCTGGGTGTGGGCCGCTGTGCGTGGGCCCTGCTCGGTGAGCTGTGGGGCAG
745930390	247637	NM_001193464.1(DYNC2LI1):c.622C>T (p.Arg208Ter)	DYNC2LI1	Aug 24, 2016	MedGen:C4310724,OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	germline	2	43796760	GAGAAGAGAAAGGTAATATGCAAGACACTTCGATTTGTTGCACATTATTATGGAGCATCAT
104894085	24026	NM_000349.2(STAR):c.772C>T (p.Gln258Ter)	STAR	Mar 18, 2016	MedGen:C0342474,OMIM:201710,Orphanet:ORPHA90790,SNOMED CT:44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency	germline	8	38144359	CAGGGGTGGCTGCCCAAGAGCATCATCAACCAGGTCCTGTCCCAGACCCAGGTGGATTTTG
876660485	233978	NM_000051.3(ATM):c.1396C>T (p.Gln466Ter)	ATM	Jun 28, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108250861	TTACGATGCCTTACGGAAGTTGCATTGTGTCAAGACAAGAGGTCAAACCTAGAAAGCTCAC
137853211	32852	NM_001082971.1(DDC):c.272C>T (p.Ala91Val)	DDC	Jun 06, 2012	MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004	Deficiency of aromatic-L-amino-acid decarboxylase	germline	7	50539958	CCACTGCCAGCTCGTACCCGGCCATGCTTGCGGACATGCTGTGCGGGGCCATTGGCTGCAT
-1	481874	NM_002778.3(PSAP):c.607C>T (p.Gln203Ter)	PSAP	Nov 16, 2017	MedGen:CN517202	not provided	germline	10	71828127	GATAATGGGGACGTTTGCCAGGACTGCATTCAGATGGTGACTGACATCCAGACTGCTGTAC
200960659	358254	NM_000153.3(GALC):c.1586C>T (p.Thr529Met)	GALC	Jan 18, 2016	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005	Galactosylceramide beta-galactosidase deficiency	germline;unknown	14	87945637	ATATTGAAGACCCTGGCGAGCATCACTTCACGCTACGCCAAGTTCTCAACCAGAGACCCAT
758886532	359437	NM_000094.3(COL7A1):c.5499C>T (p.Gly1833=)	COL7A1	Jun 27, 2016	MedGen:CN517202	not provided	germline	3	48578354	CAGTGATCTGTTCCCACAGGGAAAGCCAGGCGAGGATGGCAAACCTGGCCTGAATGGAAAA
267606541	49589	NM_003977.3(AIP):c.241C>T (p.Arg81Ter)	AIP	Jun 21, 2012	MedGen:C0346302,OMIM:102200,Orphanet:ORPHA96256,SNOMED CT:254957009	Somatotroph adenoma	not provided	11	67487147	CCTGTGTGGGAGACCATCGTGTGCACCATGCGAGAAGGGGAGATTGCCCAGTTCCTCTGTG
778961637	375017	NM_003632.2(CNTNAP1):c.1282C>T (p.Arg428Ter)	CNTNAP1	May 16, 2017	MedGen:CN517202	not provided	germline	17	42687957	CAGGTCAACGTGTCCATCGCGCAGAGCGGCCGAAAGAAGCTTCAGTTCGCTGCTGGTGAGG
775690041	211261	NM_006567.4(FARS2):c.1255C>T (p.Arg419Cys)	FARS2	Jan 30, 2018	MedGen:C4310750,OMIM:617046,Orphanet:ORPHA466722;MedGen:CN517202	Spastic paraplegia 77, autosomal recessive;not provided	germline	6	5771328	AAGACCAGCCACTGCTACCGCATCACGTACCGCCACATGGAACGGACTCTGTCCCAGAGAG
752334462	358593	NM_000159.3(GCDH):c.382C>T (p.Arg128Ter)	GCDH	Apr 26, 2017	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline;unknown	19	12893530	GTTTCGTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACA
121918427	29057	NM_006179.4(NTF4):c.616C>T (p.Arg206Trp)	NTF4	Mar 12, 2010	MedGen:C2751294,OMIM:613100	Glaucoma 1, open angle, O	germline	19	49061382	GACACTGCCTGCGTCTGCACACTCCTCAGCCGGACTGGCCGGGCCTGAGACCCATGCCCAG
67156896	103220	NM_000531.5(OTC):c.791C>T (p.Thr264Ile)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408949	CGCATGGAGGCAATGTATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGAA
587777772	166025	NM_001287341.1(NADK2):c.595C>T (p.Arg199Ter)	NADK2	Sep 15, 2014	MedGen:C1857252,OMIM:616034,Orphanet:ORPHA431361	2,4-Dienoyl-CoA reductase deficiency	germline	5	36200275	TTTTCCCCCTTTCCTTTTTCAACAGCAAAACGACAAGGAAATTTGAGTCTTCCATTGAACA
786204856	187345	NM_000314.6(PTEN):c.284C>T (p.Pro95Leu)	PTEN	Mar 01, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	PTEN hamartoma tumor syndrome	unknown	10	87933043	TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTTATCAAACCCTTTTG
760715690	268749	NM_182961.3(SYNE1):c.24577C>T (p.Arg8193Ter)	SYNE1	Nov 10, 2015	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644	Spinocerebellar ataxia, autosomal recessive 8	germline	6	152149542	GCGATCATCGAGGAGGAACTAGATGAGCTCCGACGGTACTGCCAGGAGGTCTTCGGGCGTG
116647652	214283	NM_153704.5(TMEM67):c.1351C>T (p.Arg451Ter)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93786285	CGCATTTTCTTAGTGGATGCAGTAAGTGGACGAGAAAATGACTTAGGAACTCAGCCAAGAG
1131690863	420530	NM_000321.2(RB1):c.751C>T (p.Arg251Ter)	RB1	Apr 21, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline	13	48362847	ACAGCTGTTATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTG
886042351	266470	NM_004006.2(DMD):c.2512C>T (p.Gln838Ter)	DMD	Aug 24, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	32491387	TATCAGAACAACATCATCGCTTTCTATAATCAGCTACAACAATTGGAGCAGATGACAACTA
199840952	224665	NM_001079.3(ZAP70):c.574C>T (p.Arg192Trp)	ZAP70	Jul 07, 2016	MedGen:C4310768,OMIM:617006;Human Phenotype Ontology:HP:0005387,MedGen:C0494261	Autoimmune disease, multisystem, infantile-onset, 2;Combined immunodeficiency	germline;maternal;unknown	2	97732893	CCCCTCCCTTCCCCTGCCAGGCTGAGGCCGCGGAAGGAGCAGGGCACATACGCCCTGTCCC
1064794066	404922	NM_020699.3(GATAD2B):c.973C>T (p.Gln325Ter)	GATAD2B	Sep 12, 2015	MedGen:CN517202	not provided	germline	1	153816516	GCCATCTATATGAACCTTGCTTCTCATATCCAGCCAGGGACGGTGAACAGAGTGTCCTCGC
397514560	48268	NM_000314.6(PTEN):c.392C>T (p.Thr131Ile)	PTEN	Mar 01, 2013	MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548	Macrocephaly/autism syndrome	germline	10	87933151	CAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACA
587783189	167594	NM_139058.2(ARX):c.1414C>T (p.Arg472Ter)	ARX	Feb 08, 2013	MedGen:C1846171,OMIM:300215,Orphanet:ORPHA452	Lissencephaly 2, X-linked	germline	X	25007145	CTGAGCACTTTCCTCGGAGCGGCAGTGTTCCGACACCCAGCTTTCATCAGCCCGGCATTCG
387907142	40170	NM_020732.3(ARID1B):c.1903C>T (p.Gln635Ter)	ARID1B	Mar 18, 2012	MedGen:CN029606,OMIM:135900	Coffin-Siris syndrome 1	germline	6	156901502	CCCCAGGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCGCAGCAGGTGAGCA
869025205	214074	NM_024649.4(BBS1):c.1012C>T (p.Gln338Ter)	BBS1	Oct 05, 2015	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	inherited	11	66523784	GCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCCCGGGGCCTGCAGGCCGTCATGG
750078356	446411	NM_001039141.2(TRIOBP):c.1195C>T (p.Arg399Ter)	TRIOBP	Jul 25, 2017	MedGen:CN517202	not provided	germline	22	37723751	AGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGC
142968179	45794	NM_022787.3(NMNAT1):c.619C>T (p.Arg207Trp)	NMNAT1	Sep 01, 2012	MedGen:C1837873,OMIM:608553	Leber congenital amaurosis 9	germline	1	9982480	ATCTATGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGA
-1	444732	NM_001197104.1(KMT2A):c.6487C>T (p.Arg2163Ter)	KMT2A	Jun 27, 2017	MedGen:CN517202	not provided	germline	11	118501839	TATTCTCCAACACAGAGATCCCCTGGCTGTCGACCGTTGCCTTCTGCAGGTAAAAGACTTT
398123497	99259	NM_000709.3(BCKDHA):c.288+9C>T	BCKDHA	Sep 03, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	19	41410825	CAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCCCCCCACGC
199469638	39476	NM_017415.2(KLHL3):c.718C>T (p.Arg240Ter)	KLHL3	Jan 22, 2012	MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism type 2D;Pseudohypoaldosteronism, type 2	germline	5	137661950	GAGCACATGGCAAAGCTGATGGAACATGTCCGACTTCCTCTCTTACCTAGGGACTACCTAG
62644473	15674	NM_000277.2(PAH):c.1220C>T (p.Pro407Leu)	PAH	Jan 01, 1999	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102840495	TTGGTCTTAGGAACTTTGCTGCCACAATACCTCGGCCCTTCTCAGTTCGCTACGACCCATA
387907106	40054	NM_014797.2(ZBTB24):c.1369C>T (p.Arg457Ter)	ZBTB24	Jun 10, 2011	MedGen:C3279748,OMIM:614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	germline	6	109467654	AGTTCTCTTCAGACCCACATCAGAATCCATCGGTAAAGTTTTGCAGATATTTTTCTCGCAT
63751321	94759	NM_000179.2(MSH6):c.2503C>T (p.Gln835Ter)	MSH6	Mar 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	2	47800486	ATTCATAATGTTGGGTCTCCCCTGAAGAGTCAGAACCACCCAGACAGCAGGGCTATAATGT
587779872	132916	NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys)	ATM	Aug 18, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108345818	GATGTTTGCCAAAATTTTCAACCAGTTTTCCGTTACTTCTGCATGGAAAAATTCTTGGATC
386834093	71431	NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter)	VPS13B	Jul 25, 2017	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99575719	TTGACCCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTCATTTTCA
886041856	264585	NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter)	KMT2A	Jul 05, 2016	MedGen:CN228659;MedGen:CN517202	intellectual deficiency;not provided	de novo;germline	11	118476949	CCCACCCTGAGTGCCTTACCATGGGAAGAACGAGAAAAGATTTTGTCTTCCATGGGGAATG
104895564	16635	NM_144687.3(NLRP12):c.850C>T (p.Arg284Ter)	NLRP12	Feb 05, 2008	MedGen:C2673198,OMIM:611762,Orphanet:ORPHA247868;MedGen:CN517202	Familial cold autoinflammatory syndrome 2;not provided	germline	19	53810809	GAGCCCAGCGCGCCTCTCCAGGAGCTCATCCGAGTTCCCGAGCGCCTCCTTTTCATCATCG
137852489	25085	NM_000194.2(HPRT1):c.325C>T (p.Gln109Ter)	HPRT1	Jun 01, 1990	MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	Lesch-Nyhan syndrome	germline	X	134486471	ATAGTTTTTTTTTTTTTTAACTAGAATGACCAGTCAACAGGGGACATAAAAGTAATTGGTG
753829320	247691	NM_001277061.1(MFF):c.892C>T (p.Arg298Ter)	MFF	Aug 25, 2016	MedGen:C4310726,OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	germline	2	227355756	CTGACTGTTGTAGATGCAGCTTCACTAAGACGACAGGTATTTAGTGTACCAAATAAGATAT
758677637	440081	NM_001199397.1(NEK1):c.1618C>T (p.Arg540Ter)	NEK1	Jun 01, 2017	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	maternal	4	169537856	AGAGCTAAACAAGTAGAAGAGTTCCTGCAGCGAAAACGGGAAGCTATGCAGAATAAAGCTC
397515488	77880	NM_152732.4(RSPH9):c.52C>T (p.Gln18Ter)	RSPH9	Sep 05, 2013	MedGen:C2675228,OMIM:612650	Ciliary dyskinesia, primary, 12	germline	6	43645150	CTGTCTCTGGAGCTGGCGTCCGGCAGTGGGCAGGGCCTCAGCCCGGACCGTCGGGCCTCGC
387907253	45613	NM_002501.3(NFIX):c.568C>T (p.Gln190Ter)	NFIX	Aug 13, 2010	MedGen:C3553660,OMIM:614753,Orphanet:ORPHA420179	Sotos syndrome 2	germline	19	13073055	TCCCCTTTTGTGTCTCCTGCAGAATCCGGACAATCAGATAGTTCAAACCAGCAAGGAGATG
199905054	263171	NM_138704.3(NSMCE3):c.790C>T (p.Leu264Phe)	NSMCE3	Dec 19, 2016	MedGen:CN239026;MedGen:C4310653,OMIM:617241	Lung damage, immunodeficiency and chromosome breakage syndrome;Lung disease, immunodeficiency, and chromosome breakage syndrome	germline;inherited;not applicable;unknown	15	29268916	ACCAACCTGGAAACCAGCAAGATGAAAGTTCTTAAGTTTGTGGCCAAGGTCCATAATCAAG
779445819	243890	NM_016239.3(MYO15A):c.6589C>T (p.Gln2197Ter)	MYO15A	Jun 06, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline;inherited	17	18148108	CGCCTCATGCAGGCCATGGGCCGGGCCCAACAGCAGGGCTCGGGGGCTGCCCGCACCTTAC
121434459	22680	NM_000935.2(PLOD2):c.1823C>T (p.Thr608Ile)	PLOD2	Oct 17, 2003	MedGen:C1836602,OMIM:609220	Bruck syndrome 2	germline	3	146071386	GTATATCTGGTGGTTATGAAAATGTCCCAACTGATGATATCCACATGAAGCAAGTTGATCT
190140598	196540	NM_001035.2(RYR2):c.1258C>T (p.Arg420Trp)	RYR2	May 18, 2017	MedGen:C1832931,OMIM:600996;MedGen:C1631597,Orphanet:ORPHA3286;MedGen:C4053736,OMIM:604772;Human Phenotype Ontology:HP:0001663,MedGen:C1962976;MedGen:CN517202	Arrhythmogenic right ventricular dysplasia, familial, 2;Catecholaminergic polymorphic ventricular tachycardia;Catecholaminergic polymorphic ventricular tachycardia type 1;Ventricular fibrillation;not provided	de novo;germline;unknown	1	237445488	CATGAAGAATCACGCACAGCCCGAGTTATCCGGAGCACAGTCTTCCTTTTCAATAGATTTA
373331232	431670	NM_001145849.1(PROM1):c.730C>T (p.Arg244Ter)	PROM1	Jan 01, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Retinal dystrophy	unknown	4	16023380	AATTCAGTGCTAGGAGGCGGAATTCTTGACCGACTGAGACCCAACATCATCCCTGTTCTTG
121909511	33383	NM_000080.3(CHRNE):c.865C>T (p.Leu289Phe)	CHRNE	Sep 01, 1996	Gene:8144,MedGen:C1853949,OMIM:605809	Myasthenic syndrome, congenital, 4a, slow-channel	germline	17	4900845	GTCCTGCTCGCCCAGACCGTCTTCTTGTTCCTCATTGCCCAGAAAATCCCAGAGACTTCTC
121434383	17240	NM_018668.4(VPS33B):c.1594C>T (p.Arg532Ter)	VPS33B	Apr 01, 2004	MedGen:C1859722,OMIM:208085,Orphanet:ORPHA2697	Arthrogryposis renal dysfunction cholestasis syndrome	germline	15	90999963	GTGCTTACACCTTCCCAGGTGCTAGAGCGGCGAAGCTGGCAGGGCCTTGATGAGGTGGTAC
1135401797	424656	NM_006624.5(ZMYND11):c.76C>T (p.Arg26Trp)	ZMYND11	Jan 06, 2017	MedGen:C4015167,OMIM:616083	Mental retardation, autosomal dominant 30	de novo	10	180088	CAGCATCTTTGGGCAGCCATTGAGATTATACGGAACCAGAAGCAGATTGCCAACATTGACC
886039219	259244	NM_001204.6(BMPR2):c.16C>T (p.Gln6Ter)	BMPR2	Jul 11, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377490	TTGGCTGGCCCAGGGATGACTTCCTCGCTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCAT
786203448	184516	NM_001042492.2(NF1):c.625C>T (p.Gln209Ter)	NF1	Apr 01, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline;inherited	17	31181460	TTTAAATTTAAAGCCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGG
45586240	178436	NM_001001430.2(TNNT2):c.613C>T (p.Arg205Trp)	TNNT2	Apr 29, 2014	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	1	201361989	GAGCGGAAAAGTGGGAAGAGGCAGACTGAGCGGGAAAAGAAGAAGAAGATTCTGGCTGAGA
776240891	452731	NM_004656.3(BAP1):c.757C>T (p.Gln253Ter)	BAP1	Sep 18, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	germline	3	52406279	GCCAGGCTGCATGTGCTGAAGGTGAACCGTCAGACAGTACTAGAGGCTCTGCAGCAGGTAG
281865224	105592	NM_004183.3(BEST1):c.274C>T (p.Arg92Cys)	BEST1	May 11, 2016	MedGen:CN517202	not provided	germline	11	61955744	CCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGT
387907338	51098	NM_001885.2(CRYAB):c.166C>T (p.Arg56Trp)	CRYAB	Apr 18, 2013	MedGen:C3151065,OMIM:613763	Cataract 16, multiple types	germline	11	111911559	CCCTTCTACCTTCGGCCACCCTCCTTCCTGCGGGCACCCAGCTGGTTTGACACTGGACTCT
769864196	440100	NM_147127.4(EVC2):c.1708C>T (p.Gln570Ter)	EVC2	Jun 01, 2017	MedGen:CN239258;MedGen:C0024507,OMIM:263520,SNOMED CT:72922008;MedGen:C0432198,OMIM:269860,SNOMED CT:254052001	Ellis-van Creveld Syndrome;Short rib-polydactyly syndrome, Majewski type;Type IV short rib polydactyly syndrome	maternal;unknown	4	5631795	AAAATGCTGCTGCAAAATTATTCTAAAATACAGGTAATACATCAGCCTCGCTGTGATGGAA
398123072	98169	NM_000016.5(ACADM):c.157C>T (p.Arg53Cys)	ACADM	Sep 23, 2016	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline;unknown	1	75732682	GAACAGCAGAAAGAATTTCAAGCTACTGCTCGTAAATTTGCCAGAGAGGAAATCATCCCAG
80359826	201142	NM_006516.2(SLC2A1):c.988C>T (p.Arg330Ter)	SLC2A1	Dec 08, 2016	MedGen:C3149117;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:C0014544,Orphanet:ORPHA166463;MedGen:CN228659;MedGen:CN517202	GLUT1 deficiency syndrome 1, autosomal recessive;Microcephaly;Seizure Disorders;intellectual deficiency;not provided	de novo;germline	1	42929018	TGTCTCTGCCCACAGCTGTTTGTGGTGGAGCGAGCAGGCCGGCGGACCCTGCACCTCATAG
886039274	259379	NM_001242896.1(DEPDC5):c.4606C>T (p.Gln1536Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31906291	CGGCGGCGGAACTCCACCAGCTCCACCAACCAGAACATGTTCTGCGAGGAGCGGGTCGGCT
121912982	31904	NM_000031.5(ALAD):c.718C>T (p.Arg240Trp)	ALAD	May 01, 1992	MedGen:C0268328,OMIM:612740,Orphanet:ORPHA95157,SNOMED CT:64081000	Porphobilinogen synthase deficiency	germline	9	113389521	CACCCACATTATACCCTCATCCCTTAGGACCGGGATGTACGGGAAGGAGCTGACATGCTCA
104893803	27857	NM_003106.3(SOX2):c.463C>T (p.Gln155Ter)	SOX2	Oct 01, 2005	MedGen:C1859773,OMIM:206900,Orphanet:ORPHA77298	Microphthalmia syndromic 3	germline	3	181712823	GTGGGCGCCGGCCTGGGCGCGGGCGTGAACCAGCGCATGGACAGTTACGCGCACATGAACG
80338807	19947	NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu)	LPIN2	Feb 19, 2013	MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;MedGen:CN517202	Majeed syndrome;not provided	germline	18	2922173	TCAGGAATGGCTACAAGTTTCTGTACTGCTCGGCTCGTGCCATCGGCATGGCCGACATGAC
74315513	23065	NM_003073.4(SMARCB1):c.34C>T (p.Gln12Ter)	SMARCB1	Apr 01, 2007	MedGen:C4048809,OMIM:162091	Schwannomatosis 1	germline	22	23787203	ATGATGATGGCGCTGAGCAAGACCTTCGGGCAGAAGCCCGTGAAGTTCCAGCTGGAGGACG
200001068	384403	NM_000297.3(PKD2):c.916C>T (p.Arg306Ter)	PKD2	Jul 12, 2016	MedGen:C2751306,OMIM:613095	Polycystic kidney disease 2	germline	4	88038323	CAGCCCAGCAACCAGACTGAAGCTGACAACCGAAGTTTCATCTTCTATGAGAACCTGCTGT
118204047	15804	NM_015702.2(MMADHC):c.160C>T (p.Arg54Ter)	MMADHC	Jan 07, 2016	MedGen:C1848552,OMIM:277410;MedGen:C1848554	Methylmalonic acidemia with homocystinuria cblD;Methylmalonic aciduria, cblD type, variant 2	germline	2	149579643	TGTTCCTTTTGTTGTTTCTCTTCAGGCTCTCGAACAGTGTGGCCTGATGAAACTATGGGAC
121918581	28145	NM_000283.3(PDE6B):c.1669C>T (p.His557Tyr)	PDE6B	Jun 01, 1993	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151107,OMIM:613801	Retinitis pigmentosa;Retinitis pigmentosa 40	germline	4	662188	ATCAGCAAAGGGTACCGGAGAATCACCTACCACAACTGGCGCCACGGCTTCAACGTGGCCC
104894444	24327	NM_000161.2(GCH1):c.142C>T (p.Gln48Ter)	GCH1	Jan 01, 2001	MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255	Dystonia 5, Dopa-responsive type	germline	14	54902522	AAGCCCCCGCGGCCCGAGGCCAAGAGCGCGCAGCCCGCGGACGGCTGGAAGGGCGAGCGGC
540839115	260388	NM_024818.4(UBA5):c.736C>T (p.Arg246Ter)	UBA5	Nov 22, 2016	MedGen:C4310699,OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	germline	3	132672101	GCTGCAAATATTGATGAAAAGACTCTGAAACGAGAAGGTGTTTGTGCAGCCAGTCTTCCTA
587777572	150455	NM_012293.2(PXDN):c.2638C>T (p.Arg880Cys)	PXDN	Sep 09, 2011	MedGen:C3151617,OMIM:269400	Anterior segment dysgenesis 7	germline	2	1649142	AGGAGCGGGGCCCGCTGCATGTTCTTCGTGCGCTCCAGCCCTGTGTGCGGCAGCGGCATGA
1057520690	368511	NM_181523.2(PIK3R1):c.1042C>T (p.Arg348Ter)	PIK3R1	May 04, 2015	MedGen:CN517202	not provided	germline	5	68293123	CATTTCAGGGAAGAAGTGAATGAAAAACTTCGAGATACAGCAGACGGGACCTTTTTGGTAC
119458970	17633	NM_000126.3(ETFA):c.797C>T (p.Thr266Met)	ETFA	Nov 06, 2017	MedGen:C3278154;MedGen:C0268596,OMIM:231680,Orphanet:ORPHA26791,SNOMED CT:22886006;MedGen:CN517202	Glutaric acidemia IIA;Glutaric aciduria, type 2;not provided	germline	15	76274431	TTGTTCCCAATGACATGCAAGTTGGACAGACGGGAAAAATAGTAGCACCAGTAAGTATTGC
121908576	21208	NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter)	BCS1L	Feb 07, 2017	MedGen:CN239240;MedGen:C1864002,OMIM:603358,Orphanet:ORPHA53693;MedGen:C1852372,OMIM:124000;MedGen:CN517202	BCS1L-Related Disorders;GRACILE syndrome;Mitochondrial complex III deficiency;not provided	germline;paternal;unknown	2	218661153	CATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCT
587777064	94232	NM_018051.4(WDR60):c.1891C>T (p.Gln631Ter)	WDR60	Sep 05, 2013	MedGen:C3809691,OMIM:615503	Short-rib thoracic dysplasia 8 with or without polydactyly	germline	7	158918839	AGGGCCCTGTATTTTAGTGACAGCTCATCTCAGCTGAACACCAGTCTACCATTCCTTCAAA
547709692	200117	NM_000255.3(MUT):c.890C>T (p.Thr297Ile)	MUT	Oct 04, 2012	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49456101	ACTCTAGAACTGGACTCCAGGCTGGCCTGACAATTGATGAATTTGCACCAAGGTGAGTAAA
772038362	445947	NM_000227.4(LAMA3):c.4114C>T (p.Gln1372Ter)	LAMA3	Jul 14, 2017	MedGen:CN517202	not provided	germline	18	23939301	CAAGATGCTTGCTCACCACTTCCCAAGACCCAGGCCAATCATGGAGCCCTCCAGTTTGGGG
863223919	211430	NM_021830.4(TWNK):c.967C>T (p.Arg323Ter)	TWNK	Sep 26, 2017	MedGen:CN517202	not provided	germline	10	100989177	CGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGG
120074152	17862	NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter)	VPS13B	Jan 17, 2017	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	germline;unknown	8	99384294	TATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGTAGACATATGCAACAGGTAAGAG
587777248	125920	NM_016373.3(WWOX):c.160C>T (p.Arg54Ter)	WWOX	Jan 23, 2014	MedGen:C4015519,OMIM:616211	Epileptic encephalopathy, early infantile, 28	germline	16	78108475	TGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGTATGTTGTTGTCT
199472763	67604	NM_000218.2(KCNQ1):c.1031C>T (p.Ala344Val)	KCNQ1	Oct 30, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2583544	TCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTG
119480073	19951	NM_145693.3(LPIN1):c.2401C>T (p.Arg801Ter)	LPIN1	Oct 01, 2008	MedGen:C1849386,OMIM:268200	Myoglobinuria, acute recurrent, autosomal recessive	germline	2	11819590	ACAGAACCCTTTTATGCTGCTTTTGGAAACCGACCAGCTGTAAGTAGTAGATTGGGTATAG
121908640	21367	NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp)	ASS1	Oct 31, 2017	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187;MedGen:CN517202;MedGen:CN169374	Citrullinemia type I;not provided;not specified	germline;unknown	9	130494983	GTCCTCAAGGGCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAATGAGG
886040218	261660	NM_007294.3(BRCA1):c.4225C>T (p.Gln1409Ter)	BRCA1	Sep 18, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43082536	ACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAG
180177365	78980	NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter)	VPS13B	May 06, 2016	MedGen:CN517202	not provided	germline	8	99642435	TTGCTTCTGAGTTGTCACCACAGAAAGCAGCGAGTGGAAGTATCCATTTTTGATGCTGTGC
121434571	31606	NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val)	ERCC5	Apr 27, 2007	MedGen:C0268141,OMIM:278780,SNOMED CT:36454001	Xeroderma pigmentosum, group G	germline	13	102866687	CCTACATCCAGGCTCCCATGGAAGCAGAGGCGCAGTGCGCCATCCTGGACCTGACTGATCA
63750135	426781	NM_001171.5(ABCC6):c.4448C>T (p.Pro1483Leu)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150197	ACAAGGGGCAGGTGGCAGAGAGCGGCAGCCCGGCCCAGCTGCTGGCCCAGAAGGGCCTGTT
-1	466481	NM_024589.2(ROGDI):c.340C>T (p.Gln114Ter)	ROGDI	May 01, 2017	MedGen:C0406740,OMIM:226750,SNOMED CT:109478007	Kohlschutter's syndrome	germline	16	4799778	ACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCA
121434612	26608	NM_002578.4(PAK3):c.199C>T (p.Arg67Cys)	PAK3	Aug 14, 2000	MedGen:C0796237,OMIM:300558	Mental retardation 30, X-linked	germline	X	111142119	CCTTTAGCCAATAAGAAGAAGGAGAAAGAGCGCCCAGAGATCTCTCTTCCTTCAGACTTTG
201179294	380151	NM_003630.2(PEX3):c.898C>T (p.Arg300Ter)	PEX3	Jul 20, 2017	MedGen:CN240842,OMIM:617370	Peroxisome biogenesis disorder 10b	germline	6	143479155	AGACTTCTAGACAATATGGCTGAGTTCTTTCGACCTACTGAACAGGACCTGCAACATGGTA
128625229	26250	NM_004006.2(DMD):c.8944C>T (p.Arg2982Ter)	DMD	Apr 12, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31444621	TTTGCTTTTGACTATTGCACACAGGCACTTCGAGGAGAAATTGCGCCTCTGAAAGAGAACG
587777512	143244	NM_006439.4(MAB21L2):c.151C>T (p.Arg51Cys)	MAB21L2	Jun 05, 2015	MedGen:C4014540,OMIM:615877,Orphanet:ORPHA424099	Microphthalmia/coloboma and skeletal dysplasia syndrome	de novo;germline	4	150583180	GTGCTCAAGGAAGTGGAGGTGCAGGAGCCTCGCTTCATCAGCTCCTTGAGCGAGATCGATG
267606732	21090	NM_004273.4(CHST3):c.988C>T (p.Gln330Ter)	CHST3	Oct 01, 2010	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72008019	ACCTGGAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGTGCAGC
794727977	196319	NM_020732.3(ARID1B):c.2692C>T (p.Arg898Ter)	ARID1B	Feb 16, 2017	MedGen:C3281201,OMIM:614562;MedGen:CN517202	Mental retardation, autosomal dominant 12;not provided	germline	6	157148764	AGCCAGCCATGTGGTGCTGTGCCCCTGGGACGAATGCCATCAGCTGGGATGCAGAACAGAC
398123009	48180	NM_018026.3(PACS1):c.607C>T (p.Arg203Trp)	PACS1	Aug 07, 2017	MeSH:D030342,MedGen:C0950123;MedGen:C0000772,SNOMED CT:116022009,SNOMED CT:444406006;MedGen:C3554343,OMIM:615009,Orphanet:ORPHA329224;MedGen:CN517202	Inborn genetic diseases;Multiple congenital anomalies;Schuurs-hoeijmakers syndrome;not provided	de novo;germline;unknown	11	66211206	ATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACCTTGGCCG
587777742	166021	NM_201590.2(CACNB2):c.32C>T (p.Thr11Ile)	CACNB2	May 01, 2009	MedGen:C2678477,OMIM:611876	Brugada syndrome 4	germline	10	18340958	TGCTTGACAGACGCCTTATAGCTCCTCAAACTAAATACATTATTCCTGGGGTAAGCATACG
775720394	457024	NM_001277115.1(DNAH11):c.13069C>T (p.Arg4357Ter)	DNAH11	Mar 09, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21899355	CCATAAACCAGGTTCAATGACCTCCTCCTGCGATGCCGAGAACTCGATACTTGGACACAAG
886039513	260022	NM_006009.3(TUBA1A):c.367C>T (p.Arg123Cys)	TUBA1A	Feb 26, 2017	MedGen:CN517202	not provided	germline	12	49186318	GAGATCATTGACCTCGTGTTGGACCGAATTCGCAAGCTGGTATGTTTCTTTTCAAGAATAA
66913554	426807	NM_001171.5(ABCC6):c.4192C>T (p.Arg1398Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154644	CCCGGCCAGCTGCAGTACAAGTGTGCTGACCGAGGCGAGGACCTGAGGTATGGTCGTCCCA
74315294	23992	NM_000098.2(CPT2):c.338C>T (p.Ser113Leu)	CPT2	Jul 07, 2017	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005;MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305;MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305;MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308;MedGen:C1833518,OMIM:608836,Orphanet:ORPHA228308;MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302;MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302;MedGen:C3280160,OMIM:614212,Orphanet:ORPHA263524;MedGen:CN517202	Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Encephalopathy, acute, infection-induced, 4, susceptibility to;not provided	germline;unknown	1	53202427	ACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATT
138607170	80741	NM_001349253.1(SCN11A):c.673C>T (p.Arg225Cys)	SCN11A	Nov 07, 2013	MedGen:C3809899,OMIM:615552,Orphanet:ORPHA391392	Episodic pain syndrome, familial, 3	germline	3	38925454	ACCATCAAACTATTGCCCCTGCGTACCTTCCGTGTGTTCAGAGCTTTGAAAGCAATTTCAG
761357250	204434	NM_007348.3(ATF6):c.970C>T (p.Arg324Cys)	ATF6	Oct 29, 2015	MedGen:C4225297,OMIM:616517	Achromatopsia 7	germline	1	161819693	ATAAAAAATCGAGAATCCGCTTGTCAGTCTCGCAAGAAGAAGAAAGAATATATGCTAGGGT
142859678	108188	NM_003784.3(SERPINB7):c.796C>T (p.Arg266Ter)	SERPINB7	Aug 17, 2015	MedGen:C3810072,OMIM:615598,Orphanet:ORPHA140966;MedGen:CN517202	Palmoplantar keratoderma, nagashima type;not provided	germline	18	63804288	CAGAATCTAATGGAATGGACCAATCCAAGGCGAATGACCTCTAAGTATGTTGAGGTATTTT
80338835	29111	NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter)	MYH9	Apr 05, 2011	MedGen:C0403445,OMIM:153640,SNOMED CT:236422008;MedGen:CN073381,Orphanet:ORPHA182050;MedGen:C0340978,OMIM:155100;MedGen:C1854520,OMIM:605249	Fechtner syndrome;MYH9 related disorders;May-Hegglin anomaly;Sebastian syndrome	germline	22	36282754	CGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGCGCCGGGGATGGCT
121912847	32493	NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter)	COL7A1	Mar 10, 2016	MedGen:C1853063;MedGen:CN517202	Epidermolysis bullosa pruriginosa, autosomal recessive;not provided	germline	3	48581271	CGGCCTGGCCCCCCAGGACCTGTTGGCCCCCGAGGACGAGATGTAAGAGGCTGGAGTCGGG
773279269	485710	NM_000233.3(LHCGR):c.370C>T (p.Arg124Ter)	LHCGR	Jan 02, 2018	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008	Leydig cell agenesis	germline	2	48725689	ATTGAGCCCGGAGCATTTATAAATCTTCCCCGATTAAAATACTTGTGAGAAATTTTCCTTT
111316898	265097	NM_015338.5(ASXL1):c.1867C>T (p.Gln623Ter)	ASXL1	Jan 06, 2016	MedGen:CN517202	not provided	germline	20	32434579	ACCCTCGCAGACATTAAAGCCCGTGCTCTGCAGGTCCGAGGGGCGAGAGGTCACCACTGCC
727504031	177444	NM_000266.3(NDP):c.220C>T (p.Arg74Cys)	NDP	Nov 12, 2015	MedGen:C0266526,OMIM:310600,SNOMED CT:15228007;MedGen:C1844579,OMIM:305390	Atrophia bulborum hereditaria;Familial exudative vitreoretinopathy, X-linked	germline;maternal	X	43949981	AGGTGCGAGGGGCACTGCAGCCAGGCGTCACGCTCCGAGCCTTTGGTGTCGTTCAGCACTG
912001256	446892	NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter)	SCN4A	Aug 12, 2016	Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myopathy	maternal	17	63947062	CGGGCCCTGCGTCCCCTGAGGGCACTGTCCCGATTCGAGGGCATGAGGGTGGGTGCTGAAG
387906600	38578	NM_001822.5(CHN1):c.754C>T (p.Pro252Ser)	CHN1	May 01, 2011	MedGen:C0751083,OMIM:604356	Duane syndrome type 2	germline	2	174812441	AATGTTCATAAGCAGTGTTCCAAGATGGTCCCAAATGACTGTAAGCCAGACTTGAAGCATG
398123249	98526	NM_000202.7(IDS):c.262C>T (p.Arg88Cys)	IDS	Aug 14, 2017	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline	X	149503468	CCCTAACAGCAAGCAGTGTGCGCCCCGAGCCGCGTTTCTTTCCTCACTGGCAGGAGACCTG
369721476	153787	NM_001288767.1(ARMC5):c.1084C>T (p.Arg362Ter)	ARMC5	Jun 06, 2014	MedGen:C4014803,OMIM:615954	Acth-independent macronodular adrenal hyperplasia 2	unknown	16	31462346	GCCCTCGTCCGTGCCCTCCTGGAACTCAGCCGAGGCTGCTCCCGGGCCTGTGCTGAGCAGC
751710854	186900	NM_000053.3(ATP7B):c.2383C>T (p.Leu795Phe)	ATP7B	Jun 07, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51957580	TAGAGCAAAACCTCAGAAGCCCTGGCTAAACTCATGTCTCTCCAAGCCACAGAAGCCACCG
28939681	22521	NM_001540.4(HSPB1):c.406C>T (p.Arg136Trp)	HSPB1	Jun 01, 2004	MedGen:C1847823,OMIM:606595,Orphanet:ORPHA99940	Charcot-Marie-Tooth disease type 2F	germline	7	76303843	GAGCGGCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTGAGTCC
28934907	26853	NM_004992.3(MECP2):c.316C>T (p.Arg106Trp)	MECP2	May 27, 2017	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;MedGen:CN517202	Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;not provided	de novo;germline;unknown	X	154032268	GATGACCCCACCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAATCTGGCCGCT
121912671	33378	NM_005199.4(CHRNG):c.1408C>T (p.Arg470Ter)	CHRNG	Aug 01, 2006	MedGen:C0265261,OMIM:265000,Orphanet:ORPHA294060	Multiple pterygium syndrome Escobar type	germline	2	232545570	CAGGGGAATGAGGAGTGGTTCCTGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCTGGCCA
122445099	26767	NM_000489.4(ATRX):c.7156C>T (p.Arg2386Ter)	ATRX	Apr 25, 2016	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	germline	X	77520832	AGACAAGCCAGCCAGGAGCTTGATGTTAAACGAAGAGAAGCAATCTACAATGATGTATTGA
113994150	17163	NM_024075.4(TSEN34):c.172C>T (p.Arg58Trp)	TSEN34	Sep 08, 2009	MedGen:C2676465,OMIM:612390	Pontocerebellar hypoplasia type 2C	germline	19	54191536	CTCCCGCTGCTGCTGATGCCCGAAGAGGCGCGGCTCTTGGCCGAGATCGGCGCCGTGACTC
763625913	246564	NM_000527.4(LDLR):c.2308C>T (p.Gln770Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11123341	ACCACGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCC
128626248	26296	NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter)	DMD	Jan 01, 1994	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32389605	CAGAAACCAGCCAATTTTGAGCAGCGTCTACAAGAAAGTAAGATGATTTTAGATGAAGTGA
1028347439	485084	NM_032043.2(BRIP1):c.1126C>T (p.Gln376Ter)	BRIP1	Aug 20, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61801267	TTTTGTCCCTACAACTATCTTCTAGATGCACAAATAAGGGAAAGTGTGAGTATATGTGTAA
587777366	132690	NM_022166.3(XYLT1):c.1441C>T (p.Arg481Trp)	XYLT1	Jan 01, 2014	MedGen:C4014294,OMIM:615777	Desbuquois dysplasia 2	germline	16	17141299	TGCGACGCTCACATGTGGCGCCTGGGAGATCGGCGGATCCCAGAGGGCATTGCCGTGGATG
369614706	440125	NM_001080463.1(DYNC2H1):c.1151C>T (p.Ala384Val)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	11	103120705	GTTAATGTATGTAGCCCTTGTGGAAAGCTGCGGTGTCTCAATATGAAAAGATTATTGCACC
387906893	39406	NM_019887.5(DIABLO):c.377C>T (p.Ser126Leu)	DIABLO	Jun 23, 2017	MedGen:C3279948,OMIM:614152;MedGen:CN517202	Deafness, autosomal dominant 64;not provided	germline	12	122216808	AATATACAAGTTTACTTGGGAAAATGAATTCAGAGGAGGAAGATGAAGTGTGGCAGGTGAT
104894221	21381	NM_022725.3(FANCF):c.16C>T (p.Gln6Ter)	FANCF	Jan 01, 2000	MedGen:C3469526,OMIM:603467	Fanconi anemia, complementation group F	germline	11	22625795	GCCTTCGCGCACCTCATGGAATCCCTTCTGCAGCACCTGGATCGCTTTTCCGAGCTTCTGG
137852446	25318	NM_000132.3(F8):c.5443C>T (p.Gln1815Ter)	F8	Dec 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904954	TATTCTAGCCTTATTTCTTATGAGGAAGATCAGAGGCAAGGAGCAGAACCTAGAAAAAACT
771111145	192182	NM_000153.3(GALC):c.205C>T (p.Arg69Ter)	GALC	Jan 19, 2017	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005	Galactosylceramide beta-galactosidase deficiency	germline	14	87988514	TTTGAAAACTTTTTTTTTTAGGCAACCTCCCGACTTCTAGTAAATTACCCAGAGCCCTATC
137853241	29974	NM_000545.6(HNF1A):c.1859C>T (p.Thr620Ile)	HNF1A	Sep 01, 1999	MedGen:C1838100,OMIM:600496	Maturity-onset diabetes of the young, type 3	germline	12	121001155	TGCTGCCATCCAACCACAGCGTCATCGAGACCTTCATCTCCACCCAGATGGCCTCTTCCTC
778809577	470393	NM_000022.3(ADA):c.703C>T (p.Arg235Trp)	ADA	Oct 03, 2016	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Severe combined immunodeficiency due to ADA deficiency	germline	20	44622906	CTACAGGCTGTGGACATACTCAAGACAGAGCGGCTGGGACACGGCTACCACACCCTGGAAG
63750843	96592	NM_000251.2(MSH2):c.508C>T (p.Gln170Ter)	MSH2	Aug 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	2	47410235	CAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTG
-1	428105	NM_020184.3(CNNM4):c.1555C>T (p.Arg519Ter)	CNNM4	Mar 02, 2016	MedGen:C1857588,OMIM:217080,Orphanet:ORPHA1021	Cone-rod dystrophy amelogenesis imperfecta	germline	2	96797521	TTCCACGCTCTTCTTCCGGCAGCTGACAACCGAAGCCGGAAGCGGGTGTCTGAGAAGAACA
752514808	370985	NM_020822.2(KCNT1):c.1066C>T (p.Arg356Trp)	KCNT1	May 08, 2017	MedGen:CN517202	not provided	germline	9	135765061	TTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCC
1064796618	407781	NM_000264.4(PTCH1):c.2701C>T (p.Gln901Ter)	PTCH1	Sep 07, 2017	MedGen:CN517202	not provided	germline	9	95461858	GGCAGCCGCGATAAGCCCATCGACATCAGCCAGGTACTCCAGCTGCTGGGCACTGAGGGCG
397508442	68243	NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Cystic fibrosis;Hereditary pancreatitis	germline;unknown	7	117603708	TACCACTGGTGCATACTCTAATCACAGTGTCGAAAATTTTACACCACAAAATGTTACATTC
912986968	481374	NM_020964.2(EPG5):c.1924C>T (p.Arg642Ter)	EPG5	Oct 25, 2017	MedGen:C1855772,OMIM:242840,Orphanet:ORPHA1493	Absent corpus callosum cataract immunodeficiency	maternal	18	45943180	AATAGAGCACGCTATAGGCAGTTTGTGAAGCGAATTGGTTATATGATCAGGTAATACTGCT
104894597	16606	NM_000263.3(NAGLU):c.1693C>T (p.Arg565Trp)	NAGLU	Jun 14, 2016	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008;MedGen:C0026706,SNOMED CT:88393000	Mucopolysaccharidosis, MPS-III-B;Sanfilippo syndrome	germline	17	42543699	GCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGT
797044811	204268	NM_000084.4(CLCN5):c.1399C>T (p.Arg467Ter)	CLCN5	Sep 25, 2014	MedGen:C1848336,OMIM:300009	Dent disease 1	germline	X	50088749	CCTAGCATGGCTGTTGGTGCTATAGCAGGTCGACTTCTAGGAGTAGGAATGGAACAGCTGG
369532274	98388	NM_000152.4(GAA):c.2512C>T (p.Gln838Ter)	GAA	Sep 14, 2016	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80118223	GGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGA
121965079	26886	NM_000260.3(MYO7A):c.448C>T (p.Arg150Ter)	MYO7A	Jun 08, 2012	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:C1848638	Usher syndrome, type 1;Usher syndrome, type 1B	germline	11	77156069	AACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGG
587783554	169892	NM_178151.2(DCX):c.478C>T (p.Gln160Ter)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401217	GTAAAAACATCTGCCAATATGAAAGCCCCCCAGTCCTTGGCTAGCAGCAACAGTGCACAGG
895130488	417870	NM_002816.4(PSMD12):c.601C>T (p.Arg201Ter)	PSMD12	Jun 08, 2017	MedGen:CN249119,OMIM:617516	Stankiewicz-Isidor syndrome	germline	17	67347395	AGGCTCTGCCTAGCTGTGAAGGATTACATTCGAACACAAATCATCAGCAAGAAAATTAACA
200220845	101678	NM_017780.3(CHD7):c.2839C>T (p.Arg947Ter)	CHD7	Feb 20, 2013	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60822027	TAATGGGATTTACTATATTTGAAACAGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGG
28933696	24258	NM_000435.2(NOTCH3):c.505C>T (p.Arg169Cys)	NOTCH3	Jun 06, 2014	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003;MedGen:CN517202	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not provided	germline	19	15192134	GTGGATGAGTGCCGGGTGGGTGAGCCCTGCCGCCATGGTGGCACCTGCCTCAACACACCTG
267608501	153559	NM_003159.2(CDKL5):c.587C>T (p.Ser196Leu)	CDKL5	Nov 16, 2016	MedGen:C1839333,OMIM:300672;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Early infantile epileptic encephalopathy 2;Epileptic encephalopathy;not provided	de novo;germline	X	18587986	CTCCCTATGGAAAGTCCGTGGACATGTGGTCGGTGGGCTGTATTCTTGGGGAGCTTAGCGA
121917844	23144	NM_006261.4(PROP1):c.295C>T (p.Arg99Ter)	PROP1	Sep 01, 2001	MedGen:C0878683,OMIM:262600	Pituitary hormone deficiency, combined 2	germline	5	177994153	GGGAGGAACCAGTACCCCGACATCTGGGCCCGAGAGAGTCTTGCCCGGGACACTGGCCTCA
797045026	205066	NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys)	DDX3X	Aug 06, 2015	MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260	Mental retardation, X-linked 102	germline	X	41345238	ATGTTGGATATGGGGTTTGAGCCTCAGATTCGTAGAATAGTCGAACAAGATACTATGCCTC
-1	474312	NM_005732.3(RAD50):c.2770C>T (p.Gln924Ter)	RAD50	Apr 18, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132608666	CCTTTGGAAACAACATTGGAAAAGTTCCAGCAAGAAAAAGAAGAATTAATCAACAAAAAAA
387906858	39287	NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)	KCNJ13	Jul 15, 2011	MedGen:C3280062,OMIM:614186	Leber congenital amaurosis 16	germline	2	232768778	TTTGTGGCGAAGATTGCCCGGCCAAAAAATCGAGCTTTTTCAATTCGCTTTACTGACACAG
137853087	22834	NM_004482.3(GALNT3):c.1774C>T (p.Gln592Ter)	GALNT3	Jan 01, 2006	MedGen:C1876187,OMIM:211900,OMIM:610233,Orphanet:ORPHA306661	Tumoral calcinosis, familial, hyperphosphatemic	germline	2	165749747	GTTGTCACTGGAGAGCAGATATGGGAGATCCAGAAGGTACCTCAGTGCAATTAATTCATCT
1057517423	357968	NM_000360.3(TH):c.601C>T (p.Gln201Ter)	TH	Nov 02, 2016	MedGen:C1854299,OMIM:605407	Segawa syndrome, autosomal recessive	unknown	11	2167909	CCTCAGGGCTTCTCGGACCAGGTGTACCGCCAGCGCAGGAAGCTGATTGCTGAGATCGCCT
864309539	215114	NM_001271.3(CHD2):c.1942C>T (p.Pro648Ser)	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	92956591	TCCAACCATAGGCTCCTGATTACGGGGACCCCTCTTCAGAATTCCCTCAAAGAGCTCTGGT
794726897	190356	NM_001184880.1(PCDH19):c.814C>T (p.Gln272Ter)	PCDH19	Apr 01, 2015	MedGen:C1848137,OMIM:300088,Orphanet:ORPHA101039	Early infantile epileptic encephalopathy 9	germline	X	100407784	GCCAGCGATCCAGACGAGGGCACCAACGGCCAGGTGGTCTACTCCTTCTATGGCTACGTCA
753823903	265239	NM_000521.3(HEXB):c.508C>T (p.Arg170Ter)	HEXB	Sep 07, 2016	MedGen:C0036161,OMIM:268800,Orphanet:ORPHA796,SNOMED CT:23849003	Sandhoff disease	germline	5	74693701	CTTAAGGCCAACAGAGTTTGGGGAGCATTACGAGGTAAGTTCCATGCAGTTTCATTGTTAC
79843600	131933	NM_006397.2(RNASEH2A):c.719C>T (p.Thr240Met)	RNASEH2A	Mar 13, 2014	MedGen:C1835912,OMIM:610333	Aicardi Goutieres syndrome 4	germline	19	12813164	TCCCCCAGTTTGTCCGGTTCAGCTGGCGCACGGCCCAGACCATCCTGGAGAAAGAGGCGGA
118203974	16055	NM_139241.3(FGD4):c.823C>T (p.Arg275Ter)	FGD4	Sep 13, 2012	MedGen:C1836336,OMIM:609311,Orphanet:ORPHA99954	Charcot-Marie-Tooth disease, type 4H	germline	12	32601410	AGTAAATTCCTCTTGCCAGAGCTGGAGAAACGAATGCAAGAATGGTAAGAGGAGTAGATAG
587784376	169557	NM_000540.2(RYR1):c.4225C>T (p.Arg1409Ter)	RYR1	Dec 02, 2013	MedGen:CN517202	not provided	germline	19	38475382	ACCCAGCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACA
-1	482178	NM_001083962.1(TCF4):c.1726C>T (p.Arg576Ter)	TCF4	Nov 27, 2017	MedGen:CN517202	not provided	germline	18	55229000	GAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACG
121908106	19291	NM_001080467.2(MYO5B):c.1979C>T (p.Pro660Leu)	MYO5B	Dec 15, 2008	MedGen:C0341306,OMIM:251850,Orphanet:ORPHA2290,SNOMED CT:235729009	Congenital microvillous atrophy	germline	18	49936276	CGACACCTCACTATGTCCGCTGCATCAAGCCCAACGATGAGAAGCTCCCCTTTCAGTAAGT
587783847	170004	NM_000252.2(MTM1):c.664C>T (p.Arg222Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641404	GACCTCCGGAGAGTTGCAACTTTTAGGTCCCGAAATCGAATTCCAGTGAGTACTGCAATTA
281865469	40353	NM_001193466.1(KANSL1):c.1816C>T (p.Arg606Ter)	KANSL1	Jul 27, 2017	Gene:791085,MedGen:C1864871,OMIM:610443;MedGen:CN517202	Koolen-de Vries syndrome;not provided	germline	17	46066569	GTACTGAGCTGTAAGAAGCGGAGGCTTGTTCGACCCAACAGCATCGTTCCTCTTTCCAAGA
768131676	481686	NM_018297.3(NGLY1):c.1405C>T (p.Arg469Ter)	NGLY1	Nov 22, 2017	MedGen:CN517202	not provided	germline	3	25732339	ATATCTGGGTCAGTGGCTTGGAGAGTAGCCCGAGGTGAAATGGGTCTACAGGTATTTAATT
80357234	69166	NM_007294.3(BRCA1):c.220C>T (p.Gln74Ter)	BRCA1	Jul 24, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43104949	TTTCTCAAACAATTTAATTTCAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTG
528722713	364387	NM_002016.1(FLG):c.7249C>T (p.Gln2417Ter)	FLG	Dec 08, 2016	MedGen:CN517202	not provided	germline	1	152307637	AGGTCTGGACGTTCAGGGTCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGAGTCCG
63750451	24281	NM_000535.6(PMS2):c.1882C>T (p.Arg628Ter)	PMS2	Oct 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1838333,OMIM:614337;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided	germline	7	5986883	CTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGC
587777118	106511	NM_000969.4(RPL5):c.664C>T (p.Gln222Ter)	RPL5	Aug 01, 2013	MedGen:C0265265,OMIM:612561,SNOMED CT:71988008	Aase syndrome	germline	1	92837592	ATGGAAGAAGATGAAGATGCTTACAAGAAACAGTTCTCTCAATACATAAAGAACAGCGTAA
121909652	31301	NM_182925.4(FLT4):c.3341C>T (p.Pro1114Leu)	FLT4	Jun 01, 2000	MedGen:C1704423,OMIM:153100,Orphanet:ORPHA79452,SNOMED CT:399889006	Hereditary lymphedema type I	germline	5	180613101	ACCTCCCCTTCCTGTTGTCAGGGGCCTCCCCGTACCCTGGGGTGCAGATCAATGAGGAGTT
398122366	94436	NM_025115.3(TTI2):c.1100C>T (p.Pro367Leu)	TTI2	Nov 22, 2013	MedGen:C3809853,OMIM:615541,Orphanet:ORPHA391307	Mental retardation, autosomal recessive 39	germline	8	33503763	TTTTACGCAGGACCTACGCAAGAAACCTGCCGGCTTTCGTGAACAGGTGAGGCCCTGGGCT
121908114	19241	NM_018972.2(GDAP1):c.692C>T (p.Pro231Leu)	GDAP1	Feb 08, 2017	MedGen:C1842983,OMIM:607831,Orphanet:ORPHA101097;MedGen:CN517202	Charcot-Marie-Tooth disease type 2K;not provided	germline	8	74363051	CTGAATTGCAAAGAAGAAATGAAGAAACCCCAGGTAGGTTCTCATTTATATTCTTTCTCTC
63751466	24276	NM_000535.6(PMS2):c.2404C>T (p.Arg802Ter)	PMS2	Sep 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1838333,OMIM:614337;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Turcot syndrome;not provided	germline;unknown	7	5977629	GACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCT
121918399	32919	NM_000041.3(APOE):c.127C>T (p.Arg43Cys)	APOE	Dec 13, 2007	MedGen:C2673196,OMIM:611771,Orphanet:ORPHA329481,SNOMED CT:446923008	Lipoprotein glomerulopathy	germline	19	44907843	CGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGG
118204077	16587	NM_000237.2(LPL):c.808C>T (p.Arg270Cys)	LPL	Jan 01, 1994	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19955873	GTGGACCAGCTAGTGAAGTGCTCCCACGAGCGCTCCATTCATCTCTTCATCGACTCTCTGT
200280742	359940	NM_033305.2(VPS13A):c.3889C>T (p.Arg1297Ter)	VPS13A	Dec 05, 2016	MedGen:CN517202	not provided	germline	9	77302991	CTGCCATTAAATCTTGAGGTTGTGGTTGAACGAAATTTATGCTGGGAGTGGTACCAGGAAG
4010613	26352	NM_000033.3(ABCD1):c.1849C>T (p.Arg617Cys)	ABCD1	Aug 01, 1994	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153743055	GGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGG
118204428	15510	NM_000035.3(ALDOB):c.10C>T (p.Arg4Ter)	ALDOB	Nov 13, 2014	Human Phenotype Ontology:HP:0005973,MedGen:C0016751,OMIM:229600,Orphanet:ORPHA469,SNOMED CT:20052008	Hereditary fructosuria	germline;unknown	9	101430878	CTCTTTTCCAGACCTGTCACCATGGCCCACCGATTTCCAGCCCTCACCCAGGAGCAGAAGA
63751277	95275	NM_000249.3(MLH1):c.1609C>T (p.Gln537Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37040236	AACCACTCCTTCGTGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGT
80338948	32048	NM_004004.5(GJB2):c.427C>T (p.Arg143Trp)	GJB2	Jun 16, 2017	MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383;MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:C2673759,OMIM:220290;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;MedGen:C1865234,OMIM:602540;MedGen:C1835678,OMIM:148210;MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202;MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED CT:1271009;MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED CT:24559001;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, X-linked 2;Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Hearing impairment;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Mutilating keratoderma;Nonsyndromic hearing loss and deafness;not provided	germline;unknown	13	20189155	TGGTGGACCTACACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGCCTTCATGTACG
5030846	15627	NM_000277.2(PAH):c.727C>T (p.Arg243Ter)	PAH	Aug 22, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102852930	TTCATCCCAGCTTGCACTGGTTTCCGCCTCCGACCTGTGGCTGGCCTGCTTTCCTCTCGGG
1057520733	372280	NM_130799.2(MEN1):c.781C>T (p.Gln261Ter)	MEN1	Jul 14, 2017	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202	Multiple endocrine neoplasia, type 1;not provided	germline	11	64807554	ACCGACTCGCTGGAGCTTCTGCAGCTGCAGCAGGTGAGGGCTGAGCCAATGGGGCAGGACT
1057519092	361701	NM_001005463.2(EBF3):c.487C>T (p.Arg163Trp)	EBF3	Jan 06, 2017	MedGen:CN239924	EBF3-related disorder	de novo	10	129957325	TAAAACCACTGTTTACAATTGCTCCACAGCCGGTGCTGTGACAAGAAAAGTTGTGGCAATA
724159990	171754	NM_000663.4(ABAT):c.631C>T (p.Leu211Phe)	ABAT	Jan 01, 2014	MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007	Gamma-aminobutyric acid transaminase deficiency	germline	16	8768220	TAGGCCCCTGGCTGCCCCGACTACAGCATCCTCTCCTTCATGGGCGCGTTCCATGGGAGGA
1057518822	360950	NM_025114.3(CEP290):c.2941C>T (p.Gln981Ter)	CEP290	Mar 07, 2016	Human Phenotype Ontology:HP:0000618,MedGen:C0456909;Human Phenotype Ontology:HP:0011398,MedGen:C1842364;Human Phenotype Ontology:HP:0002419,MedGen:C1865060;Human Phenotype Ontology:HP:0000639,MedGen:C0028738	Blindness;Central hypotonia;Molar tooth sign on MRI;Nystagmus	unknown	12	88102888	GAACTGACTGCTAAGTACAGGGACATCTTGCAAAAAGATAATATGCTTGTTCAAAGAACAA
104894853	25526	NM_000202.7(IDS):c.998C>T (p.Ser333Leu)	IDS	Aug 29, 2013	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline;maternal	X	149490322	TGGCCAACAGCACCATCATTGCATTTACCTCGGATCATGGTAAGCATTTTGAAATTCCCTG
72653749	426842	NM_001171.5(ABCC6):c.3823C>T (p.Arg1275Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16157722	ATCGAGTTCCGGGACTTTGGGCTAAGATACCGACCTGAGCTCCCGCTGGCTGTGCAGGGCG
-1	475731	NM_000051.3(ATM):c.3043C>T (p.Gln1015Ter)	ATM	Jun 05, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108271372	AATATGGACTCTGAGAACACAAGGGATGCTCAAGGACAGTTTCTTACAGTAATTGGAGCAT
121912303	47554	NM_001363.4(DKC1):c.5C>T (p.Ala2Val)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154762970	GCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAGGTAAGGGCTGCAGGCTTCC
80358215	31123	NM_002065.6(GLUL):c.1021C>T (p.Arg341Cys)	GLUL	Nov 03, 2005	MedGen:C1864910,OMIM:610015,Orphanet:ORPHA71278	Glutamine deficiency, congenital	germline	1	182384506	CAGGAGAAGAAGGGTTACTTTGAAGATCGTCGCCCCTCTGCCAACTGCGACCCCTTTTCGG
794727316	192602	NM_198525.2(KIF7):c.61C>T (p.Arg21Ter)	KIF7	Mar 24, 2016	Gene:46,MedGen:C0796147,OMIM:200990,Orphanet:ORPHA36;MedGen:CN517202	Acrocallosal syndrome, Schinzel type;not provided	germline	15	89652870	GCTGAGGAGGCCCCAGTGCGGGTTGCCCTGCGAGTTCGACCACTGCTGCCCAAGGAGCTGC
782246658	209093	NM_004187.3(KDM5C):c.3118C>T (p.Gln1040Ter)	KDM5C	Sep 11, 2014	MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279	Mental retardation, syndromic, Claes-Jensen type, X-linked	germline	X	53195918	CGGGCCTGGATTGCTGATGTTGATGAGATCCAAGTGAGGACCCTGCCACTCCCACCCCAGG
777323132	268228	NM_000070.2(CAPN3):c.1318C>T (p.Arg440Trp)	CAPN3	Feb 27, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42399616	ACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACT
377215510	101854	NM_020451.2(SELENON):c.1315C>T (p.Arg439Ter)	SELENON	Jul 11, 2017	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002;MedGen:CN517202	Eichsfeld type congenital muscular dystrophy;not provided	germline	1	25812720	TCCTACTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGTGCACT
863225289	214547	NM_001323289.1(CDKL5):c.2716C>T (p.Gln906Ter)	CDKL5	Aug 10, 2015	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	de novo	X	18628590	AAGGGCAGGCCAGCCCTCCAGCTGCCAGGTCAGATGGATCCTGGTTGGCATGTGTCCTCTG
104893666	27982	NM_003124.4(SPR):c.488C>T (p.Pro163Leu)	SPR	Sep 01, 2006	MedGen:C0268468,OMIM:612716,Orphanet:ORPHA70594,SNOMED CT:45116002	Sepiapterin reductase deficiency	germline	2	72888497	TTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGG
104893919	19131	NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter)	SLC26A2	Feb 02, 2017	MedGen:C0265274,OMIM:600972,Orphanet:ORPHA93298,SNOMED CT:14870002;MedGen:C1850554,OMIM:256050,Orphanet:ORPHA56304;MedGen:C0220726,OMIM:222600,Orphanet:ORPHA628,SNOMED CT:58561002;MedGen:C1847593,OMIM:226900,Orphanet:ORPHA93307;MedGen:C0029422;MedGen:CN517202	Achondrogenesis, type IB;Atelosteogenesis type 2;Diastrophic dysplasia;Multiple epiphyseal dysplasia 4;Osteochondrodysplasia;not provided	germline;unknown	5	149978184	CTGTGCCTTATGATTGGTGAGACAGTTGACCGAGAACTACAGAAAGCTGGCTATGACAATG
727503887	177194	NM_000098.2(CPT2):c.886C>T (p.Arg296Ter)	CPT2	Apr 24, 2017	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005;MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305;MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302	Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	germline;unknown	1	53210560	TTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGC
281875332	132659	NM_001101.4(ACTB):c.193C>T (p.Leu65Phe)	ACTB	Apr 15, 2014	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995	Baraitser-Winter syndrome 1	germline	7	5529331	GGCGACGAGGCCCAGAGCAAGAGAGGCATCCTCACCCTGAAGTACCCCATCGAGCACGGCA
397507629	65958	NM_000059.3(BRCA2):c.2455C>T (p.Gln819Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32336810	TTAACCAAAAATATTCCCATGGAAAAGAATCAAGATGTATGTGCTTTAAATGAAAATTATA
-1	442985	NM_021007.2(SCN2A):c.719C>T (p.Ala240Val)	SCN2A	Oct 31, 2017	MedGen:CN517202	not provided	germline	2	165310344	TGTTTGTAGGCCTGAAGACCATTGTGGGGGCCCTGATCCAGTCAGTGAAGAAGCTTTCTGA
863223649	210333	NM_000214.2(JAG1):c.910C>T (p.Gln304Ter)	JAG1	Apr 02, 2015	MedGen:CN517202	not provided	germline	20	10652227	TTGGCAGATCTCAATTACTGTGGGACTCATCAGCCGTGTCTCAACGGGGGAACTTGTAGCA
104894374	23049	NM_002905.3(RDH5):c.469C>T (p.Arg157Trp)	RDH5	Sep 01, 2000	MedGen:C4016746	Fundus albipunctatus, autosomal recessive	germline	12	55721847	CTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTC
137852937	19042	NM_170726.2(ALDH4A1):c.1055C>T (p.Ser352Leu)	ALDH4A1	Sep 01, 1998	MedGen:C2931835,OMIM:239510,Orphanet:ORPHA79101,SNOMED CT:124177001	Deficiency of pyrroline-5-carboxylate reductase	germline	1	18877498	AGTACGGTGGCCAGAAGTGTTCCGCGTGCTCGCGTCTCTACGTGCCGCACTCGCTGTGGCC
747349942	259832	NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter)	LAMA2	Jul 31, 2017	MedGen:CN117977;MedGen:CN517202	Laminin alpha 2-related dystrophy;not provided	germline	6	129401254	AAAAAGAAGGAGGCTGTTGAAAGCGGCAAACGACAAATTGAGAACACTTTAAAAGAGGGCA
121965044	15196	NM_000274.3(OAT):c.1250C>T (p.Pro417Leu)	OAT	Sep 20, 2016	MedGen:C0018425;Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Gyrate atrophy;Ornithine aminotransferase deficiency	germline	10	124398012	CCCATGGCGACATTATCAGGTTTGCGCCTCCGCTGGTGATCAAGGAGGATGAGCTTCGAGA
794727579	194094	NM_206933.2(USH2A):c.6601C>T (p.Gln2201Ter)	USH2A	Jun 26, 2014	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215998943	AGTGTCATCTATAACAGTACAGAACTTTTCCAGGATCATATGCTACAATACGTTTTACCTG
200213585	360001	NM_018451.4(CENPJ):c.469C>T (p.Gln157Ter)	CENPJ	Dec 05, 2016	MedGen:CN517202	not provided	germline	13	24912045	AAAAAGCTGAAAGAAGTACAACAGAAGAAGCAGGAACAATTGAAGAGGCAACAGTTGGAGC
537456518	106548	NM_024790.6(CSPP1):c.2773C>T (p.Arg925Ter)	CSPP1	Feb 17, 2014	MedGen:C3810212,OMIM:615636	Joubert syndrome 21	germline	8	67164468	CTTCGTAGTGAAGAGAGGCGTCTACAAGAGCGATTGCTACACATGGACAGTGATGATGAAA
80358196	15724	NM_000147.4(FUCA1):c.244C>T (p.Gln82Ter)	FUCA1	Aug 01, 1993	MedGen:C0016788,OMIM:230000,Orphanet:ORPHA349,SNOMED CT:64716005	Fucosidosis	germline	1	23868043	TGGGGCAGCGAGTGGTTCTGGTGGCACTGGCAGGGCGAGGGGCGGCCGCAGTACCAGCGCT
140403642	453359	NM_021942.5(TRAPPC11):c.1192C>T (p.Arg398Ter)	TRAPPC11	Mar 28, 2017	MedGen:C3809236,OMIM:615356	Limb-girdle muscular dystrophy, type 2S	germline	4	183682810	GTTCTTGACTTTTATGGACAAAGATCATGGCGACAAGGAATACTAAGTAAATAATTTTTCC
587780563	143264	NM_003491.3(NAA10):c.346C>T (p.Arg116Trp)	NAA10	Oct 24, 2016	MedGen:C3275447,OMIM:300855,Orphanet:ORPHA276432;MedGen:CN517202	N-terminal acetyltransferase deficiency;not provided	de novo;germline	X	153932111	CTCAGCAGTGCCTTGTTCCCCTGCAGTAACCGGGCCGCCCTGCACCTCTATTCCAACACCC
780587095	264783	NM_020366.3(RPGRIP1):c.2668C>T (p.Arg890Ter)	RPGRIP1	Oct 30, 2017	MedGen:CN517202	not provided	germline	14	21326131	TTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATG
876661096	232106	NM_000214.2(JAG1):c.871C>T (p.Gln291Ter)	JAG1	Oct 19, 2015	MedGen:CN517202	not provided	germline	20	10652483	CAGTGCCTCTGTGAGACCAACTGGGGCGGCCAGCTCTGTGACAAAGGTATGGCCCTTAGGG
121918145	15700	NM_000312.3(PROC):c.629C>T (p.Pro210Leu)	PROC	Mar 21, 1992	MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127426178	ACACAGAAGACCAAGAAGACCAAGTAGATCCGCGGCTCATTGATGGGAAGATGACCAGGCG
121907942	19071	NM_000152.4(GAA):c.1634C>T (p.Pro545Leu)	GAA	Dec 01, 1994	MedGen:CN568813	Glycogen storage disease II, adult form	germline	17	80111023	ACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGG
398124395	102009	NM_024301.4(FKRP):c.941C>T (p.Thr314Met)	FKRP	Nov 08, 2017	MedGen:C1847759,OMIM:606612;MedGen:C3150413,OMIM:613153;MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515;MedGen:CN517202	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;not provided	germline	19	46756391	CGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGA
587777061	79342	NM_030632.2(ASXL3):c.1210C>T (p.Gln404Ter)	ASXL3	Feb 05, 2013	MedGen:C3809650,OMIM:615485,Orphanet:ORPHA352577	Bainbridge-Ropers syndrome	germline	18	33738614	GTTTCTGCACAGACAGCCTTGGCAGAACAACAGCCAAAAAGCATGAAAAGCCCAGCTTCTC
267608395	153513	NM_003159.2(CDKL5):c.1675C>T (p.Arg559Ter)	CDKL5	May 18, 2017	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:C1839333,OMIM:300672;MedGen:CN517202	Atypical Rett syndrome;Early infantile epileptic encephalopathy 2;not provided	de novo;germline;unknown	X	18604599	AACCGAAATGAGGGAACGCTGGACTCACGTCGAACCACAACCAGACATTCTAAGACGATGG
879255126	246493	NM_000527.4(LDLR):c.2056C>T (p.Gln686Ter)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120438	GGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCT
587777596	152773	NM_003995.3(NPR2):c.1963C>T (p.Arg655Cys)	NPR2	Dec 01, 2013	MedGen:C4014690,OMIM:615923,Orphanet:ORPHA329191	Epiphyseal chondrodysplasia, miura type	germline	9	35805586	CTCAAGTCCTCCAACTGTGTGGTGGATAGTCGTTTTGTGCTCAAAATCACAGACTATGGCC
886039558	260337	NM_000044.4(AR):c.2257C>T (p.Arg753Ter)	AR	Jul 28, 2016	MedGen:CN517202	not provided	germline	X	67717561	ATGGGGCTCATGGTGTTTGCCATGGGCTGGCGATCCTTCACCAATGTCAACTCCAGGATGC
587781338	150590	NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter)	MUTYH	Oct 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline	1	45332080	GACACTCAACCCTGTGCCTCTCAGGTGGAGCAGGAACAGCTCTTAGCCTCAGGGAGCCTGT
121964862	27438	NM_000548.4(TSC2):c.1432C>T (p.Gln478Ter)	TSC2	Jun 07, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2063042	GTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTATGAGGTGCGTGTCCAGGCGGCCG
368482584	48156	NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter)	ADAMTSL4	Aug 01, 2010	MedGen:C2673634,OMIM:225100	Ectopia lentis, isolated autosomal recessive	germline	1	150557296	CCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCT
587779752	131903	NM_022458.3(LMBR1):c.423+4915C>T	LMBR1	Nov 21, 2014	MedGen:C1868114,OMIM:174500,Orphanet:ORPHA93336;MedGen:C1861099,OMIM:188740,Orphanet:ORPHA988;MedGen:C0241397,SNOMED CT:205308004	Polydactyly, preaxial II;Tibia, hypoplasia or aplasia of, with polydactyly;Triphalangeal thumb	germline	7	156791474	TTGGCAAACTTACATAAAAGTGACCTTGTACTGTATTTTATGACCAGATGACTTTTTCCCC
754099015	204988	NM_032856.3(WDR73):c.1039C>T (p.His347Tyr)	WDR73	Jun 29, 2015	MedGen:C0795949,OMIM:251300	Galloway-Mowat syndrome	germline	15	84643568	GGGATGGACCCTGCTCCTTTGGTCACCACCCACACCTGGCATCCCTGCAGACCAAGGACTT
886039230	259290	NM_145331.2(MAP3K7):c.1535C>T (p.Pro512Leu)	MAP3K7	Sep 30, 2016	MedGen:C4310697,OMIM:617137	Frontometaphyseal dysplasia 2	germline	6	90518552	ACATTCCTGATTATTTTCAGCCTCTAGCACCGTGCCCAAACTCCAAAGAATCTATGGCAGT
140263599	244068	NM_002075.3(GNB3):c.200C>T (p.Ser67Phe)	GNB3	Aug 12, 2016	MedGen:C4310758,OMIM:617024	Night blindness, congenital stationary, type 1h	germline	12	6843073	AGATTTACGCCATGCACTGGGCCACTGATTCTAAGTGAGGCTTGGGGGGGAACCGAGAATG
104894757	25889	NM_000054.4(AVPR2):c.541C>T (p.Arg181Cys)	AVPR2	Jan 01, 1998	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153906047	AGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTG
397514362	36349	NM_000060.4(BTD):c.466C>T (p.Gln156Ter)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644322	TATTTACACCTTTTTTTCCTCTAGGTGCTCCAGCGCCTGAGTTGTATGGCCATCAGGGGAG
777663097	367679	NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser)	WFS1	Jun 26, 2015	MedGen:CN517202	not provided	germline	4	6301965	AACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCC
863224995	213885	NM_004006.2(DMD):c.355C>T (p.Gln119Ter)	DMD	Sep 16, 2015	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32823297	GGTTTGATTTGGAATATAATCCTCCACTGGCAGGTAAGAATCCTGATGAATGGTTTCCTTT
387906627	38662	NM_004960.3(FUS):c.1483C>T (p.Arg495Ter)	FUS	Aug 31, 2010	MedGen:C1842675,OMIM:608030	Amyotrophic lateral sclerosis type 6	germline	16	31191052	CGGGGCCGCGGCGGGGACCGTGGAGGCTTCCGAGGGGGCCGGGGTGGTGGGGACAGAGGTG
-1	440160	NM_001080463.1(DYNC2H1):c.6574C>T (p.Leu2192Phe)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103184992	TGCAGAGATCATGACGAATTCATTATTAATCTCATAAGGGGACTTGGTGGAAATCTGAATA
587781948	151416	NM_000465.3(BARD1):c.1921C>T (p.Arg641Ter)	BARD1	Apr 16, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	2	214730491	GTGTTTTTGTCAGGGGTAAAAGCATGTCTACGAAGAAAAGTATGTGAACAGGAAGAAAAGT
104894458	23525	NM_006432.3(NPC2):c.358C>T (p.Pro120Ser)	NPC2	Apr 01, 2007	MedGen:C1843366,OMIM:607625	Niemann-Pick disease type C2	germline	14	74484420	CTGAATAAACTACCAGTGAAAAGCGAATATCCCTCTGTAAGTGATACCATTATTGAGGACA
587783854	170011	NM_000252.2(MTM1):c.757C>T (p.Arg253Ter)	MTM1	Nov 24, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001;MedGen:CN517202	Severe X-linked myotubular myopathy;not provided	germline	X	150645761	AGTCAGCCTCTTGTCGGTATGAGTGGGAAACGAAATAAAGATGATGAGAAATATCTCGATG
104893811	27553	NM_003242.5(TGFBR2):c.1378C>T (p.Arg460Cys)	TGFBR2	Aug 06, 2013	MedGen:C2674876,OMIM:610168;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Loeys-Dietz syndrome 2;Thoracic aortic aneurysm and aortic dissection;not provided	germline	3	30674228	ATGGCTCTGGTGCTCTGGGAAATGACATCTCGCTGTAATGCAGTGGGAGGTAGGTGTGGAC
786204095	186290	NM_000166.5(GJB1):c.116C>T (p.Ala39Val)	GJB1	Oct 07, 2014	MedGen:CN118851	Charcot-Marie-Tooth Neuropathy X	germline	X	71223823	TCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATC
144666367	248715	NM_198833.1(SERPINB8):c.850C>T (p.Arg284Ter)	SERPINB8	Sep 13, 2016	MedGen:C4310710,OMIM:617115	Peeling skin syndrome 5	germline	18	63987003	GAGGAGAGTTATGACTTGGAGCCTTTCCTTCGAAGATTAGGAATGATCGATGCTTTTGACG
757111744	187014	NM_000152.4(GAA):c.2014C>T (p.Arg672Trp)	GAA	Jun 14, 2016	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline;unknown	17	80113001	ACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAG
59966597	77203	NM_000526.4(KRT14):c.1162C>T (p.Arg388Cys)	KRT14	Oct 13, 2017	MedGen:CN517202	not provided	germline	17	41583347	GGCAGCGTGGAGGAGCAGCTGGCCCAGCTCCGCTGCGAGATGGAGCAGCAGAACCAGGAGT
606231273	167423	NM_015559.2(SETBP1):c.1876C>T (p.Arg626Ter)	SETBP1	Aug 26, 2016	MedGen:C4015141,OMIM:616078;MedGen:CN517202	Mental retardation, autosomal dominant 29;not provided	germline	18	44951216	GAGTTTCCTGGCACTAAGAAAAGAAAGCGACGACGCAATTTAGCGAAGTTGGCCCAGCTAG
886039391	259646	NM_006147.3(IRF6):c.859C>T (p.Gln287Ter)	IRF6	Jul 15, 2016	MedGen:CN517202	not provided	germline	1	209790696	CCAGGTCCTGAGCATATTACCAATGAGAAGCAGAAGCTGTTCACTAGCAAGCTGCTGGACG
121909513	33386	NM_000080.3(CHRNE):c.250C>T (p.Arg84Ter)	CHRNE	May 01, 1997	MedGen:C1837091,OMIM:608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	germline	17	4902311	TCCCCCACCCCTTAGGATTGGCAGGATTACCGACTCAACTACAGCAAGGACGACTTTGGGG
587783902	168357	NM_133433.3(NIPBL):c.2422C>T (p.Arg808Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36985602	GCTGAAGCCTTAAAGCAGAGACCTGATGGGCGATCTGTTTCTGAGTCACTAAGACGTGACC
730882242	181418	NM_001079812.2(DIAPH1):c.2305C>T (p.Gln769Ter)	DIAPH1	Feb 01, 2015	Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:CN228288;MedGen:C4225261,OMIM:616632,Orphanet:ORPHA477814	Failure to thrive;Global developmental delay;Microcephaly;Seizure disorder;Seizures, cortical blindness, and microcephaly syndrome	germline	5	141573518	ACCCCCAAAAAGCTTTATAAGCCAGAGGTGCAGCTCCGGAGGCCAAACTGGTCCAAGGTAA
118203661	58083	NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter)	TSC1	Oct 26, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	9	132902769	GGTCTCTGCTAGAAAGATCAGTTGAAGTTACAAGAGAAGGACATCCAGATGTGGAAGGTTA
199474659	24630	m.3256C>T	MT-TL1	Mar 01, 1998	MedGen:C4017627;MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	Diabetes mellitus, noninsulin-dependent, maternally transmitted;Myoclonus with epilepsy with ragged red fibers	germline	MT	3256	GTTTGTTAAGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTTTACAGTCAGAGGTT
587783747	168543	NM_002397.4(MEF2C):c.565C>T (p.Arg189Ter)	MEF2C	Nov 09, 2017	MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384;MedGen:CN517202	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;not provided	de novo;germline	5	88751881	AGGAATAGTATGTCTCCTGGTGTAACACATCGACCTCCAAGTGCAGGTAACACAGGTATGT
773159223	358392	NM_000135.2(FANCA):c.154C>T (p.Arg52Ter)	FANCA	Nov 10, 2016	MedGen:C3469521,OMIM:227650	Fanconi anemia, complementation group A	unknown	16	89815912	AAATTAAAGGAATCAGCTGTGCGCCTCCTGCGAAGCCATCAGGACCTGAATGCCCTTTTGC
387907127	40133	NM_145239.2(PRRT2):c.487C>T (p.Gln163Ter)	PRRT2	Dec 01, 2011	MedGen:C1868682,OMIM:128200;MedGen:C1865926,OMIM:602066,Orphanet:ORPHA31709	Dystonia 10;Infantile convulsions and paroxysmal choreoathetosis, familial	germline	16	29813541	AAGCCAGCCCTTCAACCAGAGCTCCCTACCCAGGAGGACCCCACCCCTGAGATTCTGTCTG
367797185	237023	NM_000789.3(ACE):c.1522C>T (p.Arg508Ter)	ACE	Jun 14, 2016	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001;MedGen:CN517202	Renal dysplasia;not provided	germline	17	63483494	AAGTATCAGGGGATCTGTCCTCCTGTTACCCGAAACGAAACCCACTTTGATGCTGGAGCTA
387907251	45608	NM_198253.2(TERT):c.2768C>T (p.Pro923Leu)	TERT	Apr 19, 2012	MedGen:C3553617,OMIM:614742	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	germline	5	1264479	CCCTGGGTGGCACGGCTTTTGTTCAGATGCCGGCCCACGGCCTATTCCCCTGGTGCGGCCT
121908740	17005	NM_000022.3(ADA):c.631C>T (p.Arg211Cys)	ADA	Sep 01, 1994	MedGen:C1863239;MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Partial adenosine deaminase deficiency;Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44623054	TTCCAGGAGGCTGTGAAGAGCGGCATTCACCGTACTGTCCACGCCGGGGAGGTGGGCTCGG
786204009	185793	NM_005957.4(MTHFR):c.244C>T (p.Arg82Trp)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11801392	CTTCAGAAACAAACCCCCTACAGGTTTGACCGGATGGCAGCAGGTGGCCCCCTCTACATAG
119479066	20016	NM_022436.2(ABCG5):c.727C>T (p.Arg243Ter)	ABCG5	Jan 01, 2001	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43826429	GTCCTCCTGGTGGAACTGGCTCGCAGGAACCGAATTGTGGTTCTCACCATTCACCAGCCCC
63750402	426858	NM_001171.5(ABCC6):c.3703C>T (p.Arg1235Trp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16159514	GACCTAGAGAACAGCATCGTGTCAGTGGAGCGGATGCAGGACTATGCCTGGACGCCCAAGG
387906594	38564	NM_001681.3(ATP2A2):c.2093C>T (p.Ala698Val)	ATP2A2	Sep 01, 2010	MedGen:C0265971,OMIM:101900,Orphanet:ORPHA79151,SNOMED CT:400085009	Acrokeratosis verruciformis of Hopf	germline	12	110340990	AATTTCTTCAGTCTTTTGATGAGATTACAGCTATGGTGAGCATGTTTGAACATGTACAGGT
370547023	170949	NM_030777.3(SLC2A10):c.1330C>T (p.Arg444Ter)	SLC2A10	May 12, 2017	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342;MedGen:CN517202	Arterial tortuosity syndrome;not provided	germline	20	46726905	GTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCT
774592932	372867	NM_000834.4(GRIN2B):c.1555C>T (p.Arg519Ter)	GRIN2B	Jan 05, 2017	MedGen:CN517202	not provided	germline	12	13615213	GCAGTGGGCTCACTCACCATCAATGAGGAACGATCGGAGGTGGTCGACTTCTCTGTGCCCT
28933990	28139	NM_000326.4(RLBP1):c.700C>T (p.Arg234Trp)	RLBP1	Jun 14, 2016	MedGen:C1843816,OMIM:607475,Orphanet:ORPHA85128;MedGen:CN239413;MedGen:C1405854	Bothnia retinal dystrophy;RLBP1-Related Disorders;Retinitis punctata albescens	germline	15	89210794	TCTCTGTCACCGCAGGATTCCTTCCCAGCCCGGTTCAAAGCCATCCACTTCATCCACCAGC
587777109	106499	NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter)	EFNB1	Feb 18, 2014	MedGen:C0220767,OMIM:304110	Craniofrontonasal dysplasia	germline	X	68839753	CGCACCATGAAGATCATCATGAAGGTTGGGCAAGGTGAGTGCCTAGTCTGAGGGTCCCCTC
121912646	27730	NM_003235.4(TG):c.4588C>T (p.Arg1530Ter)	TG	Nov 08, 2017	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000;MedGen:CN517202	Iodotyrosyl coupling defect;not provided	germline	8	132923397	GGCCTGCAATGTGACCAGAATGGCCAGTATCGAGCCAGCCAGAAGGACAGGGGCAGTGGGA
397514613	48427	NM_139242.3(MTFMT):c.382C>T (p.Arg128Ter)	MTFMT	Dec 03, 2012	MedGen:C3554182,OMIM:614947,Orphanet:ORPHA319524	Combined oxidative phosphorylation deficiency 15	germline	15	65026868	TATGATGTTGGAGTAGTGGCTTCGTTTGGCCGACTTTTGAATGAGGCTCTTATTCTTAAAT
121908059	19204	NM_002772.2(TMPRSS15):c.2569C>T (p.Arg857Ter)	TMPRSS15	Jan 01, 2002	MedGen:C0268416,OMIM:226200,Orphanet:ORPHA168601,SNOMED CT:124498007,SNOMED CT:190952002	Enterokinase deficiency	germline	21	18281139	TCAAATCTGACCTCTCCTCAAACAGTCCCTCGATTAATAGATGAAATTGTCATAAACCCTC
146017816	39057	NM_002052.4(GATA4):c.1325C>T (p.Ala442Val)	GATA4	Nov 01, 2008	MedGen:C3280777,OMIM:614429	Ventricular septal defect 1	germline	8	11758471	TGGCCGACAGTCACGGGGACATAATCACTGCGTAATCTTCCCTCTTCCCTCCTCAAATTCC
267606864	15127	NM_021828.4(HPSE2):c.1414C>T (p.Arg472Ter)	HPSE2	Jun 11, 2010	MedGen:C0403555,OMIM:236730,SNOMED CT:236533008	Ochoa syndrome	germline	10	98490103	GCTGGGCTCCAGCGGAAGCCACGGCCTGGCCGAGTGATCCGGGACAAACTAAGGATTTATG
672601313	171700	NM_000395.2(CSF2RB):c.812C>T (p.Ser271Leu)	CSF2RB	Jan 01, 2011	MedGen:C3280574,OMIM:614370	Surfactant metabolism dysfunction, pulmonary, 5	germline	22	36930468	CCTGGGAGGTGAGGAAGGAGGTGGCCAGCTCGGTCTCCTTTGGCCTATTCTACAAGCCCAG
397509359	33863	NR_104387.1(TAF1):n.5894C>T	TAF1	Oct 18, 2012	MedGen:C1839130,OMIM:314250,Orphanet:ORPHA53351	Dystonia 3, torsion, X-linked	not provided	X	71529785	GGAAGAATGAACCAAGGCTTTGAGTCTCTTCGTCTCATCTCCGTTTTGATACGTGTCTCCT
-1	434377	NM_013227.3(ACAN):c.7090C>T (p.Gln2364Ter)	ACAN	Sep 28, 2017	Human Phenotype Ontology:HP:0010886,MedGen:C0029421,OMIM:165800,Orphanet:ORPHA2764,SNOMED CT:82562007	Osteochondritis dissecans	germline	15	88871525	CACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAGTGAGTGCGGCGGGG
794728374	197268	NM_000238.3(KCNH2):c.1675C>T (p.Leu559Phe)	KCNH2	Feb 05, 2014	MedGen:CN517202	not provided	germline	7	150951718	GTGCTGTTCTTGCTCATGTGCACCTTTGCGCTCATCGCGCACTGGCTAGCCTGCATCTGGT
587783988	168316	NM_133433.3(NIPBL):c.598C>T (p.Gln200Ter)	NIPBL	Oct 16, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36962262	TCCCATCCTTCAAGTTACACAACACATCCACAGATGCAACAAGGTAAGAAAGTTGTTTGTA
121908334	19767	NM_001080114.1(LDB3):c.494C>T (p.Ala165Val)	LDB3	May 10, 2017	Human Phenotype Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED CT:699269005;MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Myofibrillar myopathy;Myofibrillar myopathy, ZASP-related;Primary dilated cardiomyopathy;not provided	germline;unknown	10	86687218	ACACGCCCATCAGCATGTATTCCCAGGATGCCATCATGGATGCCATCGCTGGGCAGGCCCA
121912625	18624	NM_017662.4(TRPM6):c.422C>T (p.Ser141Leu)	TRPM6	Mar 02, 2004	MedGen:C1865974,OMIM:602014,Orphanet:ORPHA30924	Hypomagnesemia 1, intestinal	germline	9	74840146	GGAAAATGGAACTGCCCAAGCTTGTGATCTCAGTCCATGGGGGCATCCAGAACTTTACTAT
397515433	48575	NM_001165899.1(PDE4D):c.728C>T (p.Ala243Val)	PDE4D	Feb 20, 2013	MedGen:C3553250,OMIM:614613	Acrodysostosis 2, with or without hormone resistance	germline	5	59038869	TACAGACCAGGCACTCCGTCAGTGAGATGGCCTCCAACAAGGTAAGCCCCGGTTCTGCTGT
886041382	265026	NM_007075.3(WDR45):c.19C>T (p.Arg7Ter)	WDR45	Jul 05, 2016	MedGen:CN517202	not provided	germline	X	49078077	CAATCCTGCACCATGACTCAACAGCCACTTCGAGGAGTGACCAGCCTGCGTTTCAACCAAG
727503968	177349	NM_001023570.3(IQCB1):c.1090C>T (p.Arg364Ter)	IQCB1	Feb 05, 2014	MedGen:C1836517,OMIM:609254	Senior-Loken syndrome 5	germline	3	121790112	CTTCAAAGACAGAGAGCCATGAGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGAAATAG
606231229	39397	NM_005135.2(SLC12A6):c.3247C>T (p.Arg1083Ter)	SLC12A6	Aug 12, 2011	MedGen:C0795950,OMIM:218000,Orphanet:ORPHA1496	Andermann syndrome	germline	15	34233934	TTCCTAGAGGTGCTTACCGAGGGACTAGAGCGAGTCCTACTTGTCCGGGGTGGTGGCAGTG
690016562	171835	NM_005211.3(CSF1R):c.2467C>T	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056112	CCCAGGCCCGCCTGCCTGTGAAGTGGATGGCCCCAGAGAGCATCTTTGACTGTGTCTACAC
863224986	213874	NM_004006.2(DMD):c.2407C>T (p.Gln803Ter)	DMD	Feb 15, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32491492	CTAGAGGGTGTTAATGCAGATAGCATCAAACAAGCCTCAGAACAACTGAACAGCCGGTGGA
387907236	44229	NM_032861.3(SERAC1):c.442C>T (p.Arg148Ter)	SERAC1	Nov 14, 2016	MedGen:C3553597,OMIM:614739,Orphanet:ORPHA352328;MedGen:CN517202	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome;not provided	germline	6	158146827	CGGAAGAGCAAGTCAGATGACAAAACCACGCGACTCGAGGCTGTGCGGGAAATGTCGGAGA
121909103	22311	NM_005603.4(ATP8B1):c.2599C>T (p.Arg867Cys)	ATP8B1	Jun 01, 2005	MedGen:C0268318,OMIM:147480,SNOMED CT:235888006	Cholestasis of pregnancy	germline	18	57661282	GCCTGCGAGTGCAGCGCAGTCATCTGCTGCCGCGTCACCCCCAAGCAGAAGGCCATGGTGG
1064794568	408690	NM_006009.3(TUBA1A):c.190C>T (p.Arg64Trp)	TUBA1A	Feb 21, 2017	MedGen:CN517202	not provided	germline	12	49186647	AGTGAGACGGGGGCTGGCAAGCATGTGCCCCGGGCAGTGTTTGTAGACTTGGAACCCACAG
1057518195	359329	NM_001256850.1(TTN):c.95902C>T (p.Arg31968Ter)	TTN	Nov 01, 2016	MedGen:CN517202	not provided	germline	2	178535790	CTTGAAGGCATGGGAGCAGTTCATGCTCTCCGAGGTGAAGTGGTCAGCATCAAGATTCCTT
11549190	38541	NM_001614.3(ACTG1):c.404C>T (p.Ala135Val)	ACTG1	Sep 17, 2015	MedGen:C3281235,OMIM:614583;MedGen:CN517202	Baraitser-Winter Syndrome 2;not provided	germline	17	81511586	AGACCTTCAACACCCCGGCCATGTACGTGGCCATCCAGGCCGTGCTGTCCCTCTACGCCTC
587777050	76963	NM_003868.2(FGF16):c.535C>T (p.Arg179Ter)	FGF16	Sep 01, 2013	MedGen:C1839728,OMIM:309630,Orphanet:ORPHA2498	Metacarpal 4-5 fusion	germline	X	77456433	GGCTCACCCCGGGAGGGATACAGGACTAAACGACACCAGAAATTCACTCACTTTTTACCCA
794729285	199026	NM_001256850.1(TTN):c.69415C>T (p.Arg23139Ter)	TTN	Feb 28, 2017	MedGen:C1858763,OMIM:604145;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1G;Primary dilated cardiomyopathy;not provided	germline	2	178571794	AATTCACTACTGACAATAAAGGACGCCTGCCGAGAAGATGTTGGCCATTATGTGGTTAAAC
148932047	237149	NM_007055.3(POLR3A):c.2617C>T (p.Arg873Ter)	POLR3A	Jan 08, 2016	MedGen:CN517202	not provided	germline	10	77993367	CAGCTGAGCTTTTTCCTCCTTTTCCTTTAGCGAAGGCTTGTCAAATCTCTTGAAGATCTTT
121909587	32089	NM_001735.2(C5):c.55C>T (p.Gln19Ter)	C5	May 15, 1995	MedGen:C0343047,OMIM:609536	Leiner disease	germline	9	121050192	TTTTTAATCTTCCTGGGGAAAACCTGGGGACAGGAGCAAACGTAAGTAAAACAAGCTATCT
587777458	143125	NM_001242896.1(DEPDC5):c.3259C>T (p.Arg1087Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31857548	GCCATGACTCCCACCTACATGGACAGCCCACGAAAGGTAAAGGAAGCCGCGGTAGCAGGGA
121913333	212414	NM_000038.5(APC):c.2626C>T (p.Arg876Ter)	APC	Jun 19, 2017	MeSH:D015179,MedGen:CN236642;MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Colorectal Neoplasms;Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;somatic	5	112838220	GCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCC
121912812	32559	NM_000781.2(CYP11A1):c.1076C>T (p.Ala359Val)	CYP11A1	Aug 01, 2006	MedGen:C3151055,OMIM:613743,Orphanet:ORPHA168558	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete	germline	15	74339668	AGGATATGCTGCGGGCAGAGGTCTTGGCTGCGCGGCACCAGGCCCAGGGAGACATGGCCAC
281875228	39301	NM_003072.3(SMARCA4):c.2761C>T (p.Leu921Phe)	SMARCA4	Mar 18, 2012	MedGen:C3553249,OMIM:614609;MedGen:CN517202	Mental retardation, autosomal dominant 16;not provided	germline	19	11021869	GGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCA
137854529	17205	NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys)	ANO5	Jun 17, 2016	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549;MedGen:C2750076,OMIM:613319,Orphanet:ORPHA399096;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided	germline;unknown	11	22274605	ATTGTTGCATTTACGTCAGACATCATTCCCCGTCTAGTTTACTACTATGCTTACTCAACAA
-1	439879	NM_000238.3(KCNH2):c.3202C>T (p.Gln1068Ter)	KCNH2	Jul 04, 2017	MedGen:C3150943,OMIM:613688	Long QT syndrome 2	unknown	7	150947005	GCAGACATGGCCACTGTCCTGCAGCTGCTACAGAGGCAGATGACGCTGGTCCCGCCCGCCT
794727499	193533	NM_004006.2(DMD):c.133C>T (p.Gln45Ter)	DMD	Jul 30, 2014	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	32849781	CAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCG
374661051	50318	NM_003366.3(UQCRC2):c.547C>T (p.Arg183Trp)	UQCRC2	Apr 08, 2013	MedGen:C3554608,OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5	germline	16	21965440	GTCATTGAAAATTTGCATGCAGCAGCTTACCGGAATGCCTTGGCTAATCCCTTGTATTGTC
774801990	445001	NM_152641.3(ARID2):c.5305C>T (p.Arg1769Ter)	ARID2	Sep 18, 2017	MedGen:CN517202	not provided	germline	12	45893663	GAAAAAGAGGGACCAATAACTAAACACATCCGACTAACAGCTGCCTTAATATTAAAAAATA
121908364	19862	NM_000441.1(SLC26A4):c.1115C>T (p.Ala372Val)	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791	Enlarged vestibular aqueduct	germline	7	107689166	CTATTGCAGTGTCAGTAGGAAAAGTATATGCCACCAAGTATGATTACACCATCGATGGGAA
137853042	21906	NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter)	NPHS1	Oct 31, 2016	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	germline;unknown	19	35831358	CACCTTCATCCTGGAAGGTCGGAAGAGGACCGAGTCAGGAACGAATATGAGGAGAGCCAGT
762428889	260185	NM_000088.3(COL1A1):c.1405C>T (p.Arg469Ter)	COL1A1	Jan 13, 2016	MedGen:CN517202	not provided	germline	17	50194777	CCCCCTGGCCCTGCTGGAGAGGAAGGAAAGCGAGGAGCTCGAGGTGAACCCGGACCCACTG
397515623	79349	NM_000394.3(CRYAA):c.160C>T (p.Arg54Cys)	CRYAA	Mar 10, 2017	MedGen:C1858679,OMIM:604219;Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Cataract, autosomal dominant;Congenital cataract	germline;inherited	21	43169259	ATCAGCCCCTACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGGCATCTCTGAGG
875989893	228124	NM_000527.4(LDLR):c.253C>T (p.Gln85Ter)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102726	TGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACT
28933374	28752	NM_001083116.2(PRF1):c.1034C>T (p.Pro345Leu)	PRF1	Dec 03, 1999	MedGen:C1863727,OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	germline	10	70598687	GCCCTGGCCTGGTGGACTACACCCTGGAACCCCTGCACGTGCTGCTGGACAGCCAGGACCC
878854491	238792	NM_002354.2(EPCAM):c.523C>T (p.Gln175Ter)	EPCAM	Jan 23, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47377045	GCACTTCAGAAGGAGATCACAACGCGTTATCAACTGGATCCAAAATTTATCACGAGTATTT
587784321	169727	NM_006031.5(PCNT):c.8917C>T (p.Arg2973Ter)	PCNT	Sep 09, 2013	MedGen:C0432246,OMIM:210720,Orphanet:ORPHA2637	Microcephalic osteodysplastic primordial dwarfism type 2	germline	21	46436069	TCGGATGCGGACCACCTCCGGGAACAGCAGCGAGAGCTGGAGGCGATGAGGCAGCGGCTGC
886037961	248900	NM_001077350.2(NPRL3):c.1270C>T (p.Arg424Ter)	NPRL3	Sep 21, 2016	MedGen:C4310708,OMIM:617118	Epilepsy, familial focal, with variable foci 3	germline	16	89794	GCCTCACCCAGCGAGGAGGAGCCCCGTCCGCGAGAGGACGACGTCCCCTTCACTGCCCGGG
122460159	26541	NM_003159.2(CDKL5):c.119C>T (p.Ala40Val)	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:C1839333,OMIM:300672	Atypical Rett syndrome;Early infantile epileptic encephalopathy 2	de novo;germline;unknown	X	18564496	TTCCCTTGCAGGAAACACATGAAATTGTGGCGATCAAGAAATTCAAGGACAGTGAAGGTAG
74315296	23998	NM_000098.2(CPT2):c.1507C>T (p.Arg503Cys)	CPT2	May 15, 2014	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005;MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302	Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	germline	1	53211181	GCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCT
118203727	58153	NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter)	TSC1	Dec 09, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided	germline	9	132897547	GAGCTAGAAAAAAACAGAAGCCATGTTCTCCAGCAGACTCAGAGGCTTGATACCTCCCAAA
397514534	48164	NM_018706.6(DHTKD1):c.1228C>T (p.Arg410Ter)	DHTKD1	Dec 07, 2012	MedGen:C1859817,OMIM:204750,Orphanet:ORPHA79154	2-aminoadipic 2-oxoadipic aciduria	germline	10	12094141	GACAGCCCAGAGGAAGTGGTCCGTGCCACACGACTGGCTTTTGAATACCAACGCCAGTTCC
61750117	15324	NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282968,Orphanet:ORPHA166084	not provided;von Willebrand disease, type 2a	germline	12	6018629	GACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGGTCTACATGG
749742837	209042	NM_003688.3(CASK):c.2377C>T (p.Gln793Ter)	CASK	Jul 23, 2015	MedGen:C1283400,OMIM:177400,Orphanet:ORPHA132,SNOMED CT:360589003;MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Deficiency of butyrylcholine esterase;Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline;unknown	X	41531135	TATTACTTTGTATCTCATGACCAAATGATGCAAGACATCTCTAATAACGAGTACTTGGAGT
367576664	171850	NM_001563.3(IMPG1):c.1519C>T (p.Arg507Ter)	IMPG1	Dec 30, 2014	MedGen:C4015342,OMIM:616151	Macular dystrophy, vitelliform, 4	germline	6	75950867	TCACATCCACCTGCATCTTCAGATGACAGCCGATCAAGTGCAGGTGGCGAAGATATGGTCA
794727113	191480	NM_000018.3(ACADVL):c.1357C>T (p.Arg453Ter)	ACADVL	Jul 12, 2016	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005	Very long chain acyl-CoA dehydrogenase deficiency	germline;unknown	17	7223992	TGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGG
28940289	17356	NM_014297.4(ETHE1):c.487C>T (p.Arg163Trp)	ETHE1	Feb 01, 2004	MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188	Ethylmalonic encephalopathy	germline	19	43511455	GGAGATGCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGTGACCAGCTCC
267606829	15044	NM_017547.3(FOXRED1):c.694C>T (p.Gln232Ter)	FOXRED1	Dec 07, 2017	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline	11	126275389	TGTCTGCTCCAGGGGCTTCGGCGAAAGGTCCAGTCCTTGGGAGTCCTTTTCTGCCAGGGAG
63750019	95033	NM_000179.2(MSH6):c.718C>T (p.Arg240Ter)	MSH6	Dec 02, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47798701	GAAGTACAGCCTAAGACACAAGGATCTAGGCGAAGTAGCCGCCAAATAAAAAAACGAAGGG
397515415	48309	NM_018486.2(HDAC8):c.490C>T (p.Arg164Ter)	HDAC8	Mar 09, 2017	MedGen:C3550903,OMIM:300882;MedGen:CN517202	Cornelia de Lange syndrome 5;not provided	de novo;germline;unknown	X	72495216	TATCTCAATGATGCTGTCCTGGGAATATTACGATTGCGACGGAAATTTGAGCGTATTCTCT
137852239	25628	NM_000133.3(F9):c.655C>T (p.Gln219Ter)	F9	Sep 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139551196	ACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTG
-1	482241	NM_000425.4(L1CAM):c.1672C>T (p.Arg558Ter)	L1CAM	Oct 31, 2017	MedGen:CN517202	not provided	germline	X	153868333	CAGCCCAGCATCACCTGGCGTGGGGACGGTCGAGACCTCCAGGAGCTTGGGGACAGTGACA
104893793	404762	NM_000539.3(RHO):c.491C>T (p.Ala164Val)	RHO	Sep 30, 2015	MedGen:C1864869,OMIM:610445	Congenital stationary night blindness, autosomal dominant 1	maternal	3	129531005	TCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGG
780594709	214090	NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile)	IGHMBP2	Oct 05, 2017	MedGen:C4015349,OMIM:616155,Orphanet:ORPHA443073;MedGen:C1858517,OMIM:604320,Orphanet:ORPHA98920;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy, distal, autosomal recessive, 1;not provided	germline	11	68933854	AGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGA
370324188	396812	NM_000553.4(WRN):c.673C>T (p.Arg225Ter)	WRN	Sep 27, 2016	MedGen:C0043119,OMIM:277700,Orphanet:ORPHA902,SNOMED CT:51626007	Werner syndrome	germline	8	31068276	GTTTTTTTATAGGCTGGTTTTATTATTTACCGAAATTTAGAGATTTTGGATGATACTGTGC
745688776	264516	NM_002336.2(LRP6):c.2953C>T (p.Arg985Ter)	LRP6	Apr 11, 2016	MedGen:CN517202	not provided	germline	12	12150877	CTGGACAAGCAACTCTATTGGATTGACTCACGACAAAACATGATCCGAAAGGCACAAGAAG
61762293	21352	NM_001022.3(RPS19):c.280C>T (p.Arg94Ter)	RPS19	Jun 14, 2016	MedGen:C2676137,OMIM:105650;MedGen:CN517202	Diamond-Blackfan anemia 1;not provided	germline	19	41869138	AGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGGTCC
200972952	360824	NM_002977.3(SCN9A):c.377+5C>T	SCN9A	Apr 21, 2015	Human Phenotype Ontology:HP:0007021,MedGen:C0344307	Pain insensitivity	unknown	2	166306951	ATATCTATTAAGATTTTAGTACACTCATATCCTTTTAAAAATGATTACATCCAGTGGCACT
119103265	17317	NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)	MFN2	Aug 04, 2017	MedGen:CN043576;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:C0393807,OMIM:601152,Orphanet:ORPHA90120,SNOMED CT:128203003;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A;Hereditary motor and sensory neuropathy with optic atrophy;not provided	germline	1	12002033	GTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGAC
587776916	45805	NM_001025295.2(IFITM5):c.-14C>T	IFITM5	Mar 01, 2015	MedGen:C1970414,OMIM:610967,Orphanet:ORPHA216828	Osteogenesis imperfecta type 5	germline	11	299504	CTCCCAGCACCAGTCTGAGTGTGGAAGAGACGGCGCTGGAACCCATGGACACGGCGTATCC
1064793877	411157	NM_000033.3(ABCD1):c.1895C>T (p.Thr632Ile)	ABCD1	Mar 02, 2016	MedGen:CN517202	not provided	germline	X	153743250	GGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAA
28999111	33354	NM_001614.3(ACTG1):c.266C>T (p.Thr89Ile)	ACTG1	Nov 01, 2003	MedGen:C1858172,OMIM:604717	Deafness, autosomal dominant 20	germline	17	81512000	GGGACGACATGGAGAAGATCTGGCACCACACCTTCTACAACGAGCTGCGCGTGGCCCCGGA
1057524915	380287	NM_031844.2(HNRNPU):c.511C>T (p.Gln171Ter)	HNRNPU	Mar 10, 2017	MedGen:CN240910,OMIM:617391	Epileptic encephalopathy, early infantile, 54	germline	1	244863797	CAGCAGCCTCAACCGCCGGCGACGCAGCAGCAACAGCCCCAACAGCAGCGCGGGGCCGCCA
1131691104	420792	NM_001042492.2(NF1):c.3097C>T (p.Gln1033Ter)	NF1	Feb 06, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31230366	ATGGCAAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAA
1114167288	243978	NM_014362.3(HIBCH):c.410C>T (p.Ala137Val)	HIBCH	Jan 10, 2016	MedGen:C0342738,OMIM:250620,Orphanet:ORPHA88639,SNOMED CT:237958002	Beta-hydroxyisobutyryl-CoA deacylase deficiency	inherited	2	190287614	TTTCAGGTTCTTGCCAGAAACCTTATGTTGCACTTATTCATGGAATTACAATGGGTGGGGT
-1	247398	NM_001904.3(CTNNB1):c.268C>T (p.Arg90Ter)	CTNNB1	Apr 27, 2016	MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473	Mental retardation, autosomal dominant 19	de novo	3	41224980	CCAGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCC
121918791	79533	NM_006920.4(SCN1A):c.4909C>T (p.Arg1637Cys)	SCN1A	Nov 25, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	germline	2	165992333	ATCCGTCTTGCTAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGCAAAGGGGATCCGCA
121908568	20920	NM_004655.3(AXIN2):c.1966C>T (p.Arg656Ter)	AXIN2	May 01, 2004	MedGen:C1837750,OMIM:608615,Orphanet:ORPHA300576	Oligodontia-colorectal cancer syndrome	germline	17	65536495	TTGGAGTCTGCCCGCTCGTCTCCAGGCGAACGAGCCAGCCGGCACCATCTGTGGGGGGGCA
730880637	179333	NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter)	MYBPC3	Feb 14, 2013	MedGen:CN517202	not provided	germline	11	47343514	GACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCC
199632531	211211	NM_032861.3(SERAC1):c.1126C>T (p.Gln376Ter)	SERAC1	May 03, 2016	MedGen:CN517202	not provided	germline	6	158120465	CTAGACCGAGAAACTGTGCAAGAAAAATATCAGGATGGCGTATATGTGCTGCATCCCCAAT
62635763	48317	NM_001927.3(DES):c.1255C>T (p.Pro419Ser)	DES	Mar 07, 2016	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;MedGen:CN517202	Myofibrillar myopathy 1;not provided	germline	2	219423787	TTTTGTCTCTTCCCTTTTAGGATCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCC
796051892	199936	NM_145207.2(SPATA5):c.2531C>T (p.Ala844Val)	SPATA5	Sep 03, 2015	MedGen:C4225276,OMIM:616577,Orphanet:ORPHA457351	Epilepsy, hearing loss, and mental retardation syndrome	germline	4	123313913	TTCAGATTGTAGCTGTCTGCAGAGAGGCAGCTCTTCTGGCTCTGGAAGAAGACATTCAAGC
267608561	153499	NM_003159.2(CDKL5):c.1039C>T (p.Gln347Ter)	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	unknown	X	18603963	TCTCACCACAGATCTAACAGCAAGGACATCCAGAACCTGAGTGTAGGCCTGCCCCGGGCTG
886038870	258820	NM_000138.4(FBN1):c.7939C>T (p.Gln2647Ter)	FBN1	May 28, 2013	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48415648	TTCCAGTATGAACAGTTCAGTGGAGGATGCCAAGACATCAATGAATGTGGCTCTGCGCAGG
587777484	143181	NM_033407.3(DOCK7):c.3616C>T (p.Arg1206Ter)	DOCK7	Jun 05, 2014	MedGen:C4014492,OMIM:615859,Orphanet:ORPHA411986	Epileptic encephalopathy, early infantile, 23	germline	1	62529349	CCGCGGTACTCTGACCCTCAGATAAAGGCTCGAGTGGCCATGTTGTATCTACCTCTGATTG
104894733	26179	NM_182680.1(AMELX):c.152C>T (p.Thr51Ile)	AMELX	Apr 01, 2002	MedGen:C1845052,OMIM:301200	Amelogenesis imperfecta, type 1E	germline	X	11298243	TTCTAATATCTTTTTCTCTTAAGGTGCTTACCCCTTTGAAGTGGTACCAGAGCATAAGGCC
797044969	204598	NM_004700.3(KCNQ4):c.871C>T (p.Pro291Ser)	KCNQ4	Aug 20, 2015	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	germline	1	40819911	TTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTG
587777065	94233	NM_018051.4(WDR60):c.2246C>T (p.Thr749Met)	WDR60	Sep 05, 2013	MedGen:C3809691,OMIM:615503	Short-rib thoracic dysplasia 8 with or without polydactyly	germline	7	158923722	GCGATGGCTTCTGGACGTTCCGGACCGCCACGTTTTCCACCGGTCAGTGTCATCTGCCTGC
118204439	15743	NM_000512.4(GALNS):c.1417C>T (p.Gln473Ter)	GALNS	Jan 01, 1995	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88818072	GAGGCCCTCAGCAGGATCACCTCGGTCGTCCAGCAGCACCAGGAGGCCTTGGTCCCCGCGC
75326924	28574	NM_001001547.2(CD36):c.268C>T (p.Pro90Ser)	CD36	Jun 14, 2016	MedGen:C1842090,OMIM:608404	Platelet glycoprotein IV deficiency	germline	7	80656687	AGCAGCAACATTCAAGTTAAGCAAAGAGGTCCTTATACGTACAGGTGAGTGAGTCCCCACA
72559718	441406	NM_000352.4(ABCC8):c.4157C>T (p.Ser1386Phe)	ABCC8	Sep 01, 2016	MedGen:CN517202	not provided	germline	11	17395893	TCTGCGGCCGCACCGGCAGTGGGAAGTCCTCCTTCTCTCTTGCCTTCTTCCGCATGGTGGA
587777249	125921	NM_001130145.2(YAP1):c.370C>T (p.Arg124Ter)	YAP1	Feb 06, 2014	Human Phenotype Ontology:HP:0000589,MedGen:C0009363,OMIM:120200,Orphanet:ORPHA194,SNOMED CT:92828000,SNOMED CT:93390002	Congenital ocular coloboma	germline	11	102114192	ACTGCAGGAGCCCTGACTCCACAGCATGTTCGAGCTCATTCCTCTCCAGCTTCTCTGCAGT
397514688	59368	NM_000789.3(ACE):c.1486C>T (p.Arg496Ter)	ACE	Apr 13, 2016	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001;MedGen:CN517202	Renal dysplasia;not provided	germline	17	63483172	TCCCGCTACAACTTCGACTGGTGGTATCTTCGGTGAGAGGAGGGATAGAAAAGCCTTCGCC
199472755	67819	NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met)	KCNQ1	Jun 12, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2583478	CCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTT
80359112	67292	NM_000059.3(BRCA2):c.8572C>T (p.Gln2858Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32371040	GAAAAGGAAGCAGCAAAATATGTGGAGGCCCAACAAAAGAGACTAGAAGCCTTATTCACTA
1057520542	372576	NM_020661.3(AICDA):c.334C>T (p.Arg112Cys)	AICDA	Mar 05, 2015	MedGen:CN517202	not provided	germline	12	8605308	CCCAACCTCAGTCTGAGGATCTTCACCGCGCGCCTCTACTTCTGTGAGGACCGCAAGGCTG
-1	482013	NM_000545.6(HNF1A):c.1489C>T (p.Gln497Ter)	HNF1A	Jan 08, 2018	MedGen:CN517202	not provided	germline	12	120997653	AGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCC
121918390	32934	NM_000384.2(APOB):c.7564C>T (p.Arg2522Ter)	APOB	Aug 01, 1992	MedGen:C1862596,Orphanet:ORPHA426,SNOMED CT:60193003	Familial hypobetalipoproteinemia	germline	2	21009304	TTCCGAGAGACCCTAGAAGATACACGAGACCGAATGTATCAAATGGACATTCAGCAGGAAC
886042633	267703	NM_003494.3(DYSF):c.1708C>T (p.Gln570Ter)	DYSF	Sep 22, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71551676	CTGGAGACCAAGCTGGTGGAGCACAGTGAACAGAAGGTGGAGGACCTTCCTGCGGATGACA
1064793157	409140	NM_001244189.1(KIAA0586):c.2512C>T (p.Arg838Ter)	KIAA0586	Mar 07, 2017	MedGen:CN517202	not provided	germline	14	58467833	ACTGTGACTACTTCTATTCCTCCATCATCTCGAAAAGTAGAAACTGGAGTAAAGAAACCTA
202138550	39953	NM_025099.5(CTC1):c.2959C>T (p.Arg987Trp)	CTC1	Jan 25, 2017	MedGen:C2677299,OMIM:612199;MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008	Cerebroretinal microangiopathy with calcifications and cysts 1;Dyskeratosis congenita	germline	17	8229943	TGCAGATCTCACAATGTTTATTGTTGTTTCCGGTCATCCACTTATGTGCAGGTCCTGAGTT
797044911	205311	NM_002501.3(NFIX):c.361C>T (p.Arg121Cys)	NFIX	Apr 26, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	19	13025354	AAGGGCAAGATCCGGCGGATTGACTGCCTGCGCCAGGCTGACAAGGTGTGGCGGCTGGACC
387906991	39695	NM_014874.3(MFN2):c.1085C>T (p.Thr362Met)	MFN2	Aug 29, 2016	MedGen:C4310725,OMIM:617087;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B;Charcot-Marie-Tooth disease, type 2A2A	germline	1	12002028	CTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGT
-1	485942	NM_000280.4(PAX6):c.538C>T (p.Gln180Ter)	PAX6	Jun 13, 2017	MedGen:C0344542,OMIM:106210	Aniridia 1	unknown	11	31794774	ATTCTTTTTGTTCCAGATGGCTGCCAGCAACAGGAAGGAGGGGGAGAGAATACCAACTCCA
61750130	22943	NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4	Mar 08, 2017	na;MedGen:C1855432,OMIM:248400;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;Mandibulofacial dysostosis with mental deficiency;Stargardt disease 1;not provided	germline;unknown	1	94031110	CCACGTCTATTCTCCCACAGATCGTGCTCCCGGCTACCTTTGTGTTTTTGGCTCTGATGCT
587783489	169236	NM_004380.2(CREBBP):c.4045C>T (p.Gln1349Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3740487	GAAGACCGAGTGAACAAATTTTTGCGGCGCCAGAATCACCCTGAAGCCGGGGAGGTTTTTG
727503777	178383	NM_005933.3(KMT2A):c.2233C>T (p.Arg745Ter)	KMT2A	Dec 02, 2014	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	de novo	11	118473392	AAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCA
72653705	426898	NM_001171.5(ABCC6):c.3088C>T (p.Arg1030Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16165841	CTCTTCCAGAGGCTCCTGTGGGATGTGGTGCGATCTCCCATCAGCTTCTTTGAGCGGACAC
281860303	46946	NM_005247.2(FGF3):c.283C>T (p.Arg95Trp)	FGF3	Feb 07, 2017	MedGen:C1853144,OMIM:610706,Orphanet:ORPHA90024;MedGen:CN517202	Deafness with labyrinthine aplasia microtia and microdontia (LAMM);not provided	germline	11	69816361	ATTGTGGCCATCAGGGGTCTCTTCTCCGGGCGGTACCTGGCCATGAACAAGAGGGGACGAC
193922329	44920	NM_000162.3(GCK):c.76C>T (p.Gln26Ter)	GCK	Jun 14, 2016	MedGen:C1841962,OMIM:125851;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44153433	GTAGAGCAGATCCTGGCAGAGTTCCAGCTGCAGGAGGAGGACCTGAAGAAGGTGATGAGAC
-1	463512	NM_000059.3(BRCA2):c.5047C>T (p.Gln1683Ter)	BRCA2	Mar 22, 2017	MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32339402	ACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGC
151340624	26839	NM_001127899.3(CLCN5):c.2320C>T (p.Arg774Ter)	CLCN5	Feb 01, 1996	MedGen:C4016445	Nephrolithiasis, X-linked recessive	germline	X	50090846	ACACCCATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCTGGTTA
121917860	21559	NM_007035.3(KERA):c.520C>T (p.Gln174Ter)	KERA	May 01, 2000	MedGen:C1857574,OMIM:217300	Cornea plana 2	germline	12	91055762	AATCTGGAGAACCTGACCCTTCTTGACCTACAGAACAACAAATTAGTGGACAATGCCTTTC
137852216	25746	NM_152424.3(AMER1):c.1057C>T (p.Arg353Ter)	AMER1	Jan 01, 2009	MedGen:C0432268,OMIM:300373,Orphanet:ORPHA2780,SNOMED CT:254129003	Osteopathia striata with cranial sclerosis	unknown	X	64192230	AGCATGGCCTCTGGGGGCCAGAGAGCAAACCGAGATGGGACCAAGCGAAGTTCCTGCCTGG
-1	478856	NM_000267.3(NF1):c.4078C>T (p.Gln1360Ter)	NF1	Apr 27, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31249087	ATCATCAGTTCCTCCTCAGAATTCCCCCCTCAACTTCGAAGTGTGTGCCACTGTTTATACC
397514554	48254	NM_001904.3(CTNNB1):c.1543C>T (p.Arg515Ter)	CTNNB1	Oct 16, 2017	MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473;MedGen:CN517202	Mental retardation, autosomal dominant 19;not provided	germline	3	41234157	TCTGTTTTTCAGGCTACTGTTGGATTGATTCGAAATCTTGCCCTTTGTCCCGCAAATCATG
74315425	18361	NM_020436.4(SALL4):c.2593C>T (p.Arg865Ter)	SALL4	Jan 15, 2015	MedGen:C1623209,OMIM:607323,Orphanet:ORPHA93293	Duane-radial ray syndrome	germline	20	51789010	ATGACCCCTTTGTTAGCAGCCCAGCCACGCCGACAGGCCAAGCAACATGGCTGCACACGGT
797045399	209209	NM_000052.6(ATP7A):c.598C>T (p.Gln200Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	77988719	GAAGGAAAAATTGGGAAACTGCAAGGTGTTCAGCGAATTAAAGGTAATGTGTCTGGTGTTG
199422305	47724	NM_198253.2(TERT):c.2935C>T (p.Arg979Trp)	TERT	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006;MedGen:C1851970,OMIM:127550	Aplastic anemia;Dyskeratosis congenita autosomal dominant	somatic	5	1260509	AACATGCGTCGCAAACTCTTTGGGGTCTTGCGGCTGAAGTGTCACAGCCTGTTTCTGGATT
199835443	211277	NM_020320.4(RARS2):c.943C>T (p.Arg315Ter)	RARS2	Nov 11, 2013	MedGen:CN517202	not provided	germline	6	87524588	GGCGACCCCTCCTCAATTTGTACTGTAATGCGAAGTGATGGGACTTCTCTCTATGCAACCA
771004767	359751	NM_033305.2(VPS13A):c.799C>T (p.Arg267Ter)	VPS13A	Dec 05, 2016	MedGen:CN517202	not provided	germline	9	77219998	TCTGCTAATGCCAAACTTGTGATGAATCGCCGATCTGATTTTGACTTTTCTGCCCCCAAAA
5030850	15649	NM_000277.2(PAH):c.781C>T (p.Arg261Ter)	PAH	May 04, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852876	TCTCGGGATTTCTTGGGTGGCCTGGCCTTCCGAGTCTTCCACTGCACACAGTACATCAGAC
1141814	19360	NM_001005741.2(GBA):c.259C>T (p.Arg87Trp)	GBA	Nov 10, 2016	MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher disease;Gaucher's disease, type 1	germline	1	155239934	AGCCGCTATGAGAGTACACGCAGTGGGCGACGGATGGAGCTGAGTATGGGGCCCATCCAGG
111033821	36662	NM_000155.3(GALT):c.1059+56C>T	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649620	CTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCA
201486601	33500	NM_024411.4(PDYN):c.634C>T (p.Arg212Trp)	PDYN	Nov 12, 2010	MedGen:C1853250,OMIM:610245,Orphanet:ORPHA101108	Spinocerebellar ataxia 23	germline	20	1980454	GACCTGTACAAACGCTATGGGGGCTTCTTGCGGCGCATTCGTCCCAAGCTCAAGTGGGACA
132630271	26158	NM_000377.2(WAS):c.100C>T (p.Arg34Ter)	WAS	Oct 01, 1995	MedGen:C0043194,OMIM:277970,OMIM:301000,Orphanet:ORPHA906,SNOMED CT:36070007	Wiskott-Aldrich syndrome	germline	X	48683953	TCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCT
797044933	205223	NM_006922.3(SCN3A):c.1318C>T (p.Gln440Ter)	SCN3A	Feb 05, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	2	165154514	CAGAATCAGGCCACCTTGGAAGAAGCAGAACAAAAAGAGGCCGAATTTCAGCAGATGCTCG
119103244	17368	NM_033071.3(SYNE1):c.22918C>T (p.Gln7640Ter)	SYNE1	Jan 01, 2007	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644	Spinocerebellar ataxia, autosomal recessive 8	germline	6	152201838	CCGGATCACCATGAAGAGCTCCATGCAGAACAAATGCGTTGCAAGGTAAATTACTGAACTG
121908317	19640	NM_020427.2(SLURP1):c.286C>T (p.Arg96Ter)	SLURP1	Apr 01, 2001	MedGen:C0025221,OMIM:248300,Orphanet:ORPHA87503,SNOMED CT:239069005	Acroerythrokeratoderma	germline	8	142741169	GGGGCCGCCCACCTGATCTTCTGCTGCTTCCGAGACCTCTGCAACTCGGAACTCTGAACCC
727503987	177140	NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter)	KMT2D	Nov 08, 2017	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	de novo;germline	12	49049834	TTGGGGGTCTCTACGGATGTTAGTCCAGCCCGAGATGAGGGCTCCCTACGGCTCTGTACTG
377767360	36191	NM_005359.5(SMAD4):c.1333C>T (p.Arg445Ter)	SMAD4	May 16, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005;MedGen:C1832942,OMIM:175050;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;not provided	germline	18	51076662	TAAAAGGTCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCAC
140602858	34435	NM_018136.4(ASPM):c.3811C>T (p.Arg1271Ter)	ASPM	Feb 08, 2013	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197121974	TTGGATCTTCGTAAAGAAATAAGAGCTGCTCGACTCATACAAACAACATGGAGAAAATATA
200164773	457957	NM_000503.5(EYA1):c.229C>T (p.Arg77Ter)	EYA1	Jun 13, 2016	MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Melnick-Fraser syndrome	germline	8	71322242	CCAGCAATTGGGAGCAGTAGTTTCAGCCCACGACCAACTCACCAGTTCTCTCCACCACAGA
387906975	39641	NM_017649.4(CNNM2):c.1703C>T (p.Thr568Ile)	CNNM2	Mar 11, 2011	MedGen:C3151295,OMIM:613882	Hypomagnesemia 6, renal	germline	10	103049788	ATCCATTTTATGAAGTTCTGGGAATCGTCACCTTAGAAGATGTGATTGAAGAAATCATCAA
387907010	39738	NM_013296.4(GPSM2):c.1684C>T (p.Gln562Ter)	GPSM2	Jun 08, 2012	MedGen:C1858695,OMIM:604213,Orphanet:ORPHA314597	Chudley-McCullough syndrome	germline	1	108924083	GCCAGCTCACAGAGTCGCCGTCTGGATGACCAGAGGGCTAGTTTCAGTAATTTGCCAGGGC
80357131	46031	NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter)	BRCA1	Oct 11, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43092968	ATAGAAATGGAAGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAA
116840809	28042	NM_000996.2(RPL35A):c.304C>T (p.Arg102Ter)	RPL35A	Jun 25, 2009	MedGen:C2675859,OMIM:612528	Diamond-Blackfan anemia 5	germline	3	197954142	CTTCCTGCTAAGGCCATTGGACACAGAATCCGAGTGGTGAGTATGGTTTTTAGCAAAATGG
28940287	17442	NM_000048.3(ASL):c.1135C>T (p.Arg379Cys)	ASL	Mar 30, 2017	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004;MedGen:CN517202	Argininosuccinate lyase deficiency;not provided	germline	7	66092078	CTGGCCACTGACCTTGCCTATTACCTGGTCCGCAAAGGGGTAAGTGTGTAGCAGCCAGGGG
80359212	67494	NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter)	BRCA2	Aug 16, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline;unknown	13	32394814	ATGTTAATTGCTGCAAGCAACCTCCAGTGGCGACCAGAATCCAAATCAGGCCTTCTTACTT
1064794209	408372	NM_000256.3(MYBPC3):c.1621C>T (p.Gln541Ter)	MYBPC3	Mar 08, 2017	MedGen:CN517202	not provided	germline	11	47342581	GGGGGCCAGGCGCTGGCTGAGCTCATTGTGCAGGGTGAGCCTGGCTGGGGGGGCACATGAG
886038766	258921	NM_000138.4(FBN1):c.526C>T (p.Gln176Ter)	FBN1	Feb 01, 2013	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48596295	TGTGCATGCACTTACGGATTTACTGGACCCCAGTGTGAAAGAGGTAATGGTTTTTAAAATC
121908345	19758	NM_015166.3(MLC1):c.274C>T (p.Pro92Ser)	MLC1	Jun 14, 2016	MedGen:CN176898;MedGen:C1858854,OMIM:604004,Orphanet:ORPHA2478	Megalencephalic leukoencephalopathy with subcortical cysts;Megalencephalic leukoencephalopathy with subcortical cysts 1	germline;unknown	22	50080391	CATGGGATTCCGGTTTCATTCCAGTGCATCCCCTCGGCAATTGTGAGCTTCACCGTCTCCA
876658868	233027	NM_000038.5(APC):c.1417C>T (p.Gln473Ter)	APC	Aug 09, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112827116	CCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGCAAGTGGACT
104894274	15516	NM_000317.2(PTS):c.46C>T (p.Arg16Cys)	PTS	May 01, 1994	MedGen:CN068421	Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency	germline	11	112226489	GGTGGCCGTCGCTGCCAGGCACAAGTGTCCCGCCGCATCTCCTTCAGCGCGAGCCACCGAT
121434526	33315	NM_001613.3(ACTA2):c.445C>T (p.Arg149Cys)	ACTA2	Jul 31, 2017	Gene:252843,MedGen:C1846837,OMIM:607087;MedGen:C2673186,OMIM:611788;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Aortic aneurysm, familial thoracic 2;Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection;not provided	germline	10	88941794	CAGGCGGTGCTGTCTCTCTATGCCTCTGGACGCACAACTGGTAGGTGGCTGGGCGGGACAG
398122382	75107	NM_001478.4(B4GALNT1):c.682C>T (p.Arg228Ter)	B4GALNT1	Jul 11, 2013	MedGen:C1836632,OMIM:609195,Orphanet:ORPHA101006	Spastic paraplegia 26	germline	12	57630182	AGGCAACTACAACTGGTCACTTACAGCAGCCGAAGCTACCAGACCAACACAGCAGACACAG
751298577	205256	NM_014112.4(TRPS1):c.2627C>T (p.Ser876Phe)	TRPS1	Feb 05, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	8	115587074	TGCAGGGGGCGCCAGCTGGCGGAGAGAAGTCTGGGGCCCTCCCCCAGCAGTATCCTGCATC
104894796	26746	NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile)	EFNB1	Jun 01, 2004	MedGen:C0220767,OMIM:304110	Craniofrontonasal dysplasia	germline	X	68838820	GCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAACTA
121434603	28788	NM_000316.2(PTH1R):c.1453C>T (p.Arg485Ter)	PTH1R	Jan 01, 2005	MedGen:C1838779,OMIM:600002	Eiken skeletal dysplasia	germline	3	46903327	AGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATA
794727643	194452	NM_012463.3(ATP6V0A2):c.304C>T (p.Gln102Ter)	ATP6V0A2	Jul 17, 2014	MedGen:C0268355,OMIM:219200,Orphanet:ORPHA357058,SNOMED CT:73856006	Cutis laxa with osteodystrophy	germline	12	123724663	GTAACCATTGTTTTGTTTTAGGAGCAGTTGCAGAAGCTCGAGGTTGAACTGAGAGAAGTCA
879253789	244118	NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)	SCN4A	Jul 14, 2016	MedGen:C0751882,Orphanet:ORPHA590	Congenital myasthenic syndrome	germline	17	63941922	CCCACGCTGTTCCGTGTGATCCGCCTGGCGCGGATTGGGCGTGTCCTGCGGCTGATCCGCG
797044868	205334	NM_003491.3(NAA10):c.247C>T (p.Arg83Cys)	NAA10	Aug 04, 2016	MeSH:D030342,MedGen:C0950123;MedGen:C3275447,OMIM:300855,Orphanet:ORPHA276432;MedGen:CN517202	Inborn genetic diseases;N-terminal acetyltransferase deficiency;not provided	de novo;germline;inherited	X	153932410	TCCCACCAGGCTGTGAAGCGTTCCCACCGGCGCCTCGGTCTGGCTCAGAAACTGATGGACC
1057519291	361793	NM_022089.3(ATP13A2):c.1550C>T (p.Thr517Ile)	ATP13A2	Feb 01, 2017	MedGen:C4310662,OMIM:617225	Spastic paraplegia 78, autosomal recessive	germline	1	16993828	CCCCACCCACCTGTCTCCCACAGACGGGCACCCTCACTGAGGACGGCTTAGACGTGATGGG
6256	28798	NM_000315.3(PTH):c.247C>T (p.Arg83Ter)	PTH	Sep 11, 2008	Human Phenotype Ontology:HP:0008200,MedGen:C0221002,SNOMED CT:36348003	Primary hyperparathyroidism	germline	11	13492506	GCTCCCAGAGATGCTGGTTCCCAGAGGCCCCGAAAAAAGGAAGACAATGTCTTGGTTGAGA
864309724	215787	NM_004991.3(MECOM):c.2812C>T (p.Arg938Trp)	MECOM	Dec 03, 2015	MedGen:C4225221,OMIM:616738	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	germline	3	169100922	AAGATTTTTCCAAGGTCTGCAAACCTAACACGGCACTTGAGAACCCACACAGGAGAGCAGC
886037723	248823	NM_177438.2(DICER1):c.5104C>T (p.Q1702*)	DICER1	Jan 12, 2017	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	germline	14	95094148	GTTCCACTTCGGATCCCCTCAGATTGTTACCAGCGCTTAGAATTCCTGGGAGATGCGATTT
137852862	16890	NM_001193311.1(SUGCT):c.322C>T (p.Arg108Ter)	SUGCT	Nov 01, 2008	MedGen:C0342873,OMIM:231690,Orphanet:ORPHA35706,SNOMED CT:238070003	Glutaryl-CoA oxidase deficiency	germline	7	40188569	ACAGAAAGTACATATTATCTCAGTGTTAACCGAAATAAAAAAGTAAGAATATCATCCCTTT
797046083	207918	NM_000372.4(TYR):c.658C>T (p.Gln220Ter)	TYR	Jul 27, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008	Tyrosinase-negative oculocutaneous albinism	germline	11	89178611	TGGCATAGACTCTTCTTGTTGCGGTGGGAACAAGAAATCCAGAAGCTGACAGGAGATGAAA
104893979	17493	NM_000434.3(NEU1):c.946C>T (p.Pro316Ser)	NEU1	Jan 01, 2002	MedGen:C0268228	Sialidosis type I	germline	6	31860117	GATGTGACCTTCGACCCTGAGCTCGTGGACCCTGTGGTAGCTGCAGGAGCTGTAGTCACCA
80357367	70140	NM_007294.3(BRCA1):c.5239C>T (p.Gln1747Ter)	BRCA1	Dec 14, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43057090	AGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGG
193922464	45375	NM_000448.2(RAG1):c.322C>T (p.Arg108Ter)	RAG1	Jan 13, 2016	Human Phenotype Ontology:HP:0004430,MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:31323000;MedGen:C1832322,OMIM:601457,Orphanet:ORPHA331206	Severe combined immunodeficiency disease;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive	germline	11	36573626	AGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTT
876657403	190180	NM_013328.3(PYCR2):c.751C>T (p.Arg251Cys)	PYCR2	May 07, 2015	MedGen:C4225332,OMIM:616420	Leukodystrophy, hypomyelinating, 10	germline	1	225921254	GCCCTGCACTTTCTAGAGAGTGGGGGCTTCCGCTCTCTGCTCATCAATGCAGTTGAGGCCT
387906851	39264	NM_005902.3(SMAD3):c.782C>T (p.Thr261Ile)	SMAD3	Feb 01, 2011	MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984	Loeys-Dietz syndrome 3	germline	15	67181364	CGCAGCCATCCATGACTGTGGATGGCTTCACCGACCCCTCCAATTCGGAGCGCTTCTGCCT
794727516	193659	NM_020549.4(CHAT):c.418C>T (p.Gln140Ter)	CHAT	Mar 31, 2015	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49619755	GGGCTGCCCAAACTGCCCGTGCCCCCGCTGCAGCAGACCCTGGCCACGTACCTGCAGTGCA
28933675	25320	NM_000132.3(F8):c.5530C>T (p.Pro1844Ser)	F8	Oct 01, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904867	TACTTTTGGAAAGTGCAACATCATATGGCACCCACTAAAGATGAGTTTGACTGCAAAGCCT
773770609	264863	NM_177550.4(SLC13A5):c.997C>T (p.Arg333Ter)	SLC13A5	May 05, 2016	MedGen:C4014621,OMIM:615905;MedGen:CN517202	Epileptic encephalopathy, early infantile, 25;not provided	germline	17	6695784	TTCTTCCTGCTGGTCATCCTGTGGTTCTCCCGAGACCCCGGCTTCATGCCCGGCTGGCTGA
398123503	99272	NM_000709.3(BCKDHA):c.632C>T (p.Thr211Met)	BCKDHA	Aug 23, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	19	41419282	ACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTCAGGGTGAGGATGCATGCCC
761635539	190170	NM_006087.3(TUBB4A):c.568C>T (p.His190Tyr)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495931	GTGGAGCCCTACAACGCCACGCTGTCTGTGCACCAGCTGGTGGAGAATACGGATGAGACCT
372504780	99608	NM_001297.4(CNGB1):c.952C>T (p.Gln318Ter)	CNGB1	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151066,OMIM:613767	Retinitis pigmentosa;Retinitis pigmentosa 45	germline;unknown	16	57950463	GAGGTTGAACCGCCCTGGGAGGATGCCCACCAGGATGTCAGTACCAGCCCACAGGGTACAG
796053376	202331	NM_003165.3(STXBP1):c.1672C>T (p.Gln558Ter)	STXBP1	Nov 19, 2013	MedGen:CN517202	not provided	germline	9	127682530	AATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAG
199473411	67623	NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp)	KCNQ1	Jun 13, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline;maternal;unknown	11	2585275	CAGCAGAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTC
121434541	32683	NM_004933.2(CDH15):c.365C>T (p.Ala122Val)	CDH15	Dec 01, 2008	MedGen:C2675488,OMIM:612580	Mental retardation, autosomal dominant 3	germline	16	89183555	GCCCTTGCTCTATGTTTGAACAGCTAAGAGCGTTTGCCCTGGACCTGGGAGGATCCACCCT
104894261	31727	NM_130799.2(MEN1):c.1579C>T (p.Arg527Ter)	MEN1	Nov 01, 2017	MedGen:C0027672,SNOMED CT:699346009;na;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Metastatic pancreatic neuroendocrine tumours;Multiple endocrine neoplasia, type 1;not provided	germline;somatic	11	64804588	AAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGG
201213306	94316	NM_019026.4(TMCO1):c.412C>T (p.Arg138Ter)	TMCO1	Feb 01, 2014	MedGen:C1859252,OMIM:213980,OMIM:614132,Orphanet:ORPHA1394	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	germline	1	165752166	AATGACAATTTGTTCGTCTCATTACAGGTTCGAATGAAATCCATGTTTGCTATTGGCTTTT
770637624	185160	NM_058216.2(RAD51C):c.709C>T (p.Arg237Ter)	RAD51C	Jul 05, 2017	MedGen:C3150659,OMIM:613399;MedGen:C3150653,OMIM:613390;MedGen:C3150653,OMIM:613390;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	58709862	ATCTAATATTATCTCTTCTGTATTTAGGTTCGACTAGTGATAGTGGATGGTATTGCTTTTC
121908189	19514	NM_031433.3(MFRP):c.523C>T (p.Gln175Ter)	MFRP	Mar 02, 2016	MedGen:C1970236,OMIM:611040,Orphanet:ORPHA251279;MedGen:C1836006,OMIM:609549	Microphthalmia, isolated 5;Nanophthalmos 2	germline	11	119345538	CCCCCCAACACCCACTGCGTGTGGCATATCCAGGTGGCCACAGACCATGCAATACAGCTCA
104894954	24810	NM_021083.3(XK):c.895C>T (p.Gln299Ter)	XK	Mar 01, 2001	MedGen:C0398568,OMIM:300842,Orphanet:ORPHA59306	McLeod neuroacanthocytosis syndrome	germline	X	37728022	GGTATCAACATGTTCTGCTGGTCTGCTGTACAGCTGAAAATTGACAGCCCTGACCTCATCA
63750140	94792	NM_000179.2(MSH6):c.2815C>T (p.Gln939Ter)	MSH6	Jul 28, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47800798	CCCAAAGCAGGCTTTGACTCTGATTATGACCAAGCTCTTGCTGACATAAGAGAAAATGAAC
797045479	206954	NM_004369.3(COL6A3):c.6181C>T (p.Arg2061Ter)	COL6A3	Apr 28, 2014	Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myopathy	germline	2	237361150	TTTCAGGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGGACCCG
104894890	25988	NM_000475.4(NR0B1):c.847C>T (p.Gln283Ter)	NR0B1	Dec 15, 1994	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308517	CCCTGCTTCCAGGTGCTGCCCCTGGACCAGCAGCTGGTGCTGGTGCGCAACTGCTGGGCGT
879253842	224630	NM_000255.3(MUT):c.1271C>T (p.Pro424Leu)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49451527	AAGAATCTGGGATTCCCAAAGTGGCTGATCCTTGGGGAGGTTCTTACATGATGGAATGTCT
773171451	203726	NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp)	KCNQ2	May 31, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 7;not provided	germline	20	63413535	GTGTCCAAGCGGAAGTTCAAGGAGAGCCTGCGGCCCTACGACGTGATGGACGTCATCGAGC
587779406	106594	NM_000520.5(HEXA):c.1305C>T (p.Tyr435=)	HEXA	Oct 08, 2014	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	inherited;unknown	15	72346552	ATCCTATGGCCCTGACTGGAAGGATTTCTACATAGTGGAACCCCTGGCATTTGAAGGTGAA
769053227	440202	NM_001080463.1(DYNC2H1):c.10921C>T (p.Pro3641Ser)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	11	103286264	ATGGCCATTTTTATTTTTTAGATTGCTCTCCCCAGTCTTTATCAGACCCTCTGCTTTGAAG
121907914	18503	NM_000280.4(PAX6):c.307C>T (p.Arg103Ter)	PAX6	Nov 29, 2016	MedGen:C0344542,OMIM:106210;MedGen:CN517202	Aniridia 1;not provided	de novo;germline;paternal	11	31801611	GAGTGCCCGTCCATCTTTGCTTGGGAAATCCGAGACAGATTACTGTCCGAGGGGGTCTGTA
879254981	246270	NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11116188	GACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGT
61749747	101100	NM_004992.3(MECP2):c.730C>T (p.Gln244Ter)	MECP2	Feb 05, 2015	MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Mental retardation, X-linked, syndromic 13;Rett syndrome	germline;unknown	X	154031098	GCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGA
121909588	32090	NM_001735.2(C5):c.4426C>T (p.Arg1476Ter)	C5	May 15, 1995	MedGen:C0343047,OMIM:609536	Leiner disease	germline	9	120962749	CAGATTCCCTCCAGTGATTTCCTTTGTGTACGATTCCGGATATTTGAACTCTTTGAAGTTG
118192173	28027	NM_000540.2(RYR1):c.325C>T (p.Arg109Trp)	RYR1	Nov 07, 2013	Human Phenotype Ontology:HP:0003789,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905;MedGen:CN517202	Minicore myopathy;not provided	germline;unknown	19	38443612	ACGCTCCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGGTGAGTGCAA
587783857	169960	NM_000252.2(MTM1):c.85C>T (p.Arg29Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150596519	TGTTTCTAGACGTCTCGAGATGGAGTCAATCGAGATCTCACTGAGGCTGTTCCTCGACTTC
398123100	98225	NM_000033.3(ABCD1):c.1396C>T (p.Gln466Ter)	ABCD1	Jun 03, 2013	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153737159	CCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCT
757259413	360004	NM_000280.4(PAX6):c.622C>T (p.Arg208Trp)	PAX6	Mar 26, 2015	MedGen:CN517202	not provided	germline	11	31794690	GATGAGGCTCAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAAATAGAACATCCTTTA
104894556	22563	NM_001303.3(COX10):c.674C>T (p.Pro225Leu)	COX10	Oct 15, 2003	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	17	14159926	ACTCAAACATGAATAGGACAAAGAACAGACCGCTGGTTCGTGGACAGATCAGGTAAAATCA
121908555	20956	NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser)	SCN4A	Oct 14, 2003	MedGen:C2750061,OMIM:613345	Hypokalemic periodic paralysis, type 2	germline	17	63945608	GTGGTGGTGAACGCCCTCCTAGGCGCCATCCCCTCCATCATGAATGTGCTGCTTGTCTGCC
1064796453	406301	NM_001904.3(CTNNB1):c.1759C>T (p.Arg587Ter)	CTNNB1	Feb 24, 2017	MedGen:CN517202	not provided	germline	3	41235799	CTTCACATCCTAGCTCGGGATGTTCACAACCGAATTGTTATCAGAGGACTAAATACCATTC
-1	427247	NM_000038.5(APC):c.667C>T (p.Gln223Ter)	APC	-	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112792467	TTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGAC
1057524195	369472	NM_006766.4(KAT6A):c.4381C>T (p.Gln1461Ter)	KAT6A	Jan 04, 2017	MedGen:CN517202	not provided	germline	8	41933839	GCGGCGTGTCAGACCCTGCAGAGTTACACCCAGGCTGACGAGGACCCTCAGATGTCCATGG
-1	432258	NM_182848.3(CLDN10):c.386C>T (p.Ser129Leu)	CLDN10	Feb 26, 2018	MedGen:CN469329,OMIM:617671	HELIX SYNDROME	germline	13	95560391	TTTCCCTCTAATATTTGTTAGGGCTGTGCTCAATGACTGGATGTTCCCTATATGCAAACAA
74315482	18127	NM_000487.5(ARSA):c.1462C>T (p.Gln488Ter)	ARSA	Jan 01, 1994	MedGen:CN068604	Arylsulfatase A pseudodeficiency	germline	22	50625213	CAGGTGGCCCGGGGCGAGGACCCCGCCCTGCAGATCTGCTGTCATCCTGGCTGCACCCCCC
587781372	150636	NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter)	MSH6	Apr 08, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	2	47800915	GTCTATTGGGGGATTGGTAGGAACCGTTACCAGCTGGAAATTCCTGAGAATTTCACCACTC
121918307	20425	NM_015713.4(RRM2B):c.850C>T (p.Gln284Ter)	RRM2B	Apr 17, 2014	MedGen:C2749861,OMIM:612075,Orphanet:ORPHA255235;MedGen:CN187502	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;RRM2B-related mitochondrial disease	germline	8	102212829	CTCATTGGAATGAATTGCATTTTGATGAAACAGTACATTGAGTTTGTAGCTGACAGATTAC
80356673	27343	NM_002529.3(NTRK1):c.25C>T (p.Gln9Ter)	NTRK1	Aug 05, 2008	MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED CT:62985007;MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED CT:62985007	Hereditary insensitivity to pain with anhidrosis;Hereditary insensitivity to pain with anhidrosis	germline	1	156860959	GCCGCGATGCTGCGAGGCGGACGGCGCGGGCAGCTTGGCTGGCACAGCTGGGCTGCGGGGC
104886306	36127	NM_000495.4(COL4A5):c.5029C>T (p.Arg1677Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108696349	AAAGCAGGAGACTTGAGGACACGAATTAGCCGATGTCAAGTGTGCATGAAGAGGACATAAC
121434567	31653	NM_001963.5(EGF):c.3209C>T (p.Pro1070Leu)	EGF	Aug 01, 2007	MedGen:C2673648,OMIM:611718	Hypomagnesemia 4, renal	germline	4	110004540	AGAAGCTGCTATCGAAAAACCCAAAGAATCCTTATGAGGAGTCGAGCAGAGATGTGAGGAG
137853062	22072	NM_002454.2(MTRR):c.1361C>T (p.Ser454Leu)	MTRR	Mar 01, 2005	MedGen:C1856057,OMIM:236270,Orphanet:ORPHA2169	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type	germline	5	7891405	ATCTTCCTAAACTTCAACCCAGACCATATTCGTGTGCAAGGTACTACTATTTATTCACGTA
-1	433312	NM_000402.4(G6PD):c.1408C>T (p.Leu470Phe)	G6PD	Oct 09, 2016	MedGen:CN169374	not specified	germline	X	154532432	AACGTGAAGCTCCCTGACGCCTATGAGCGCCTCATCCTGGACGTCTTCTGCGGGAGCCAGA
796051896	227904	NM_000016.5(ACADM):c.1012C>T (p.Gln338Ter)	ACADM	Feb 20, 2015	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75761188	ATGAAAGTTGAACTAGCTAGAATGAGTTACCAGAGAGCAGCTTGGGAGGTTGATTCTGGTC
886041941	264186	NM_022455.4(NSD1):c.5842C>T (p.Arg1948Cys)	NSD1	Oct 12, 2017	MedGen:CN517202	not provided	germline	5	177280784	AAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGA
104894841	25772	NM_000169.2(GLA):c.679C>T (p.Arg227Ter)	GLA	Oct 24, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline	X	101398907	ACAGAAATCCGACAGTACTGCAATCACTGGCGAAATTTTGCTGACATTGATGATTCCTGGA
780957825	207832	NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met)	KCNJ11	May 18, 2015	MedGen:C0027773,OMIM:601820,SNOMED CT:42681006	Islet cell hyperplasia	germline	11	17387211	TCGTCATCCTGGAAGGCGTGGTGGAAACCACGGGCATCACCACCCAGGCCCGCACCTCCTA
762114560	227867	NM_000016.5(ACADM):c.250C>T (p.Leu84Phe)	ACADM	Oct 12, 2017	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline;unknown	1	75732886	CCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGA
754360599	427016	NM_001171.5(ABCC6):c.1465C>T (p.Arg489Trp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16190334	GAGCAAATGAGGCAGAAGGACTCACGGGCACGGCTCACCAGCTCTATCCTCAGGAACTCGA
116840815	33936	NM_000166.5(GJB1):c.43C>T (p.Arg15Trp)	GJB1	Aug 24, 2016	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71223750	GGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGC
368705240	270897	NM_002225.3(IVD):c.1117C>T (p.Gln373Ter)	IVD	Mar 16, 2016	MedGen:C0268575,OMIM:243500,Orphanet:ORPHA33,SNOMED CT:87827003	Isovaleryl-CoA dehydrogenase deficiency	germline	15	40416332	GTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTG
34809449	30029	NM_000184.2(HBG2):c.-167C>T	HBG2	Sep 11, 1990	MedGen:C1841621,OMIM:141749	Fetal hemoglobin quantitative trait locus 1	germline	11	5254895	CACCCATGGGTTGGCCAGCCTTGCCTTGACCAATAGCCTTGACAAGGCAAACTTGACCAAT
869025284	223023	NM_020771.3(HACE1):c.454C>T (p.Gln152Ter)	HACE1	Feb 04, 2016	MedGen:C4225215,OMIM:616756,Orphanet:ORPHA464282	Spastic paraplegia and psychomotor retardation with or without seizures	germline	6	104833122	GGGCGGACAGAACTACTCCATGACCTTGTGCAGCATGTCAGTGATGTTGATGTTGAGGATG
147903984	271170	NM_022132.4(MCCC2):c.214C>T (p.Arg72Ter)	MCCC2	Mar 15, 2016	MedGen:C1859499,OMIM:210210	3-methylcrotonyl CoA carboxylase 2 deficiency	germline	5	71596297	ATTTCTATCATAGGAGGTGGTGAGAAAGCCCGAGCACTTCACATATCAAGAGGAAAACTAT
121913293	187363	NM_000314.6(PTEN):c.517C>T (p.Arg173Cys)	PTEN	Jun 12, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neoplasm of brain;PTEN hamartoma tumor syndrome;not provided	de novo;germline;somatic	10	87952142	CACCAGGGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAA
147277149	259828	NM_002454.2(MTRR):c.1573C>T (p.Arg525Ter)	MTRR	Jul 13, 2016	MedGen:CN517202	not provided	germline	5	7895749	GATGTAATATTTCAGATATCCATCTCTCCTCGAACAACAAATTCTTTCCACTTACCAGATG
753770252	226911	NM_017890.4(VPS13B):c.9547C>T (p.Gln3183Ter)	VPS13B	Mar 31, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	8	99832510	TCAGTACTGGATGCATCCCTGCTTCAGAAACAGATCATGCTGGGCTTTTCTCCTGCCCCAG
1114167709	419486	NM_000179.2(MSH6):c.1969C>T (p.Gln657Ter)	MSH6	Aug 31, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	2	47799952	CTAAGTGATGGCATTGGGGTGATGTTACCCCAGGTGCTTAAAGGTATGACTTCAGAGTCTG
730880404	179721	NM_005159.4(ACTC1):c.968C>T (p.Ala323Val)	ACTC1	Jan 26, 2014	MedGen:CN517202	not provided	germline	15	34791136	ATCGTATGCAGAAGGAAATCACTGCTCTGGCTCCTAGCACCATGAAGATTAAGGTAAAGAA
121912824	32523	NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter)	COL4A3	Jan 01, 1997	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919	Alport syndrome, autosomal recessive	germline	2	227307898	TTTTCTTTTCTTTTTGTACAAGGAAATCAACGAGCCCACGGACAAGACCTTGGTAATGTCC
876659319	235335	NM_024675.3(PALB2):c.115C>T (p.Gln39Ter)	PALB2	Jan 26, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009	Familial cancer of breast;Hereditary cancer-predisposing syndrome	germline	16	23637946	TGGGGCTGTTTTTGTCTCCTCTAGCGTGCCCAAAGAGCTGAAAAGATTAAGCATTCTATTA
121918167	15995	NM_000275.2(OCA2):c.2228C>T (p.Pro743Leu)	OCA2	Jan 25, 2017	MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006;MedGen:CN517202	Tyrosinase-positive oculocutaneous albinism;not provided	germline	15	27871170	CCCTGGCGTCGTCCCTGATTGACAACATCCCGTTCACTGCTACCATGGTGAGTTGCACATG
869312693	225860	NM_001376.4(DYNC1H1):c.10573C>T (p.Arg3525Cys)	DYNC1H1	Jun 02, 2015	MedGen:C3281202,OMIM:614563	Mental retardation, autosomal dominant 13	de novo	14	102034135	GCCTACGCGGGTTACTTTGACCAGCAGATGCGTCAGAACTTGTTCACTACCTGGTCCCATC
397518422	94288	NM_015295.2(SMCHD1):c.1580C>T (p.Thr527Met)	SMCHD1	Oct 03, 2013	Gene:2490,MedGen:C1834671,OMIM:158901	Facioscapulohumeral muscular dystrophy 2	germline	18	2700851	ACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGA
10800597	417644	NR_040073.1(MIR181A1HG):n.363+1456C>T	MIR181A1HG	-	MedGen:C1879321,Orphanet:ORPHA98834	Acute myeloid leukemia with maturation	germline	1	198898955	TGCACAAAAAATCAACTGTCCTAAGCCATTCAGCTTGTCTATAAGTGCTGTTGGCTTAATT
557164942	190955	NM_000070.2(CAPN3):c.1477C>T (p.Arg493Trp)	CAPN3	Jun 27, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42401763	GCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTG
60798368	77310	NM_001927.3(DES):c.46C>T (p.Arg16Cys)	DES	Aug 16, 2016	Human Phenotype Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED CT:699269005;MedGen:CN517202	Myofibrillar myopathy;not provided	unknown	2	219418508	TCGTCCAGCCAGCGCGTGTCCTCCTACCGCCGCACCTTCGGCGGGGCCCCGGGCTTCCCAC
104893650	19245	NM_181457.3(PAX3):c.149C>T (p.Pro50Leu)	PAX3	Feb 13, 1992	MedGen:C1847800,OMIM:193500	Waardenburg syndrome type 1	germline	2	222297150	AGCTCGGCGGTGTTTTTATCAACGGCAGGCCGCTGCCCAACCACATCCGCCACAAGATCGT
119483085	20159	NM_001135242.1(NDRG1):c.442C>T (p.Arg148Ter)	NDRG1	Oct 08, 2016	MedGen:C1832334,OMIM:601455,Orphanet:ORPHA99950;MedGen:CN043578	Charcot-Marie-Tooth disease, type 4D;Charcot-Marie-Tooth disease, type IV	germline	8	133258374	GGAACAGGAGCAGGCGCCTACATCCTAACTCGATTTGCTGTGAGTGCTTTGGCATTTTTTG
121909492	22049	NM_002316.3(LMX1B):c.745C>T (p.Arg249Ter)	LMX1B	Dec 01, 1998	MedGen:C0027341,OMIM:161200,SNOMED CT:22199006	Nail-patella syndrome	germline	9	126693527	TGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCA
121909485	20418	NM_001172696.1(TSFM):c.997C>T (p.Arg333Trp)	TSFM	Apr 29, 2014	MedGen:C1864840,OMIM:610505,Orphanet:ORPHA168566;MedGen:C1864840,OMIM:610505,Orphanet:ORPHA168566	Combined oxidative phosphorylation deficiency 3;Combined oxidative phosphorylation deficiency 3	germline	12	57796539	CCTCAGGGGGTGTCGGTAGTAGACTTTGTGCGGTTTGAATGTGGAGAAGGTGAAGAGGCAG
-1	446089	NM_014727.2(KMT2B):c.4204C>T (p.Arg1402Ter)	KMT2B	Jul 26, 2017	MedGen:CN517202	not provided	germline	19	35727524	CCGTGTGCTGGGGCAGCGCAGCCCCGCTGGCGAGAGGCCCTGAGCGGGGCCCTCCAGGGGG
1131691093	420823	NM_001042492.2(NF1):c.6715C>T (p.Gln2239Ter)	NF1	Sep 08, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31338035	TGTGGATCTTTTAATTGCAGATTTGCATTCCAATATAATCCATCCCTGCAACCAAGAGCTC
864309656	215650	NM_004092.3(ECHS1):c.413C>T (p.Ala138Val)	ECHS1	Oct 01, 2015	MedGen:C4225391,OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	germline	10	133369905	AGCCAGTCATCGCTGCTGTCAATGGCTATGCCGTGAGTGTTGCTGCCAAGAGTCTCCTCCT
28939087	19778	NM_018389.4(SLC35C1):c.439C>T (p.Arg147Cys)	SLC35C1	May 01, 2001	MedGen:C0398739,OMIM:266265,Orphanet:ORPHA99843	Congenital disorder of glycosylation type 2C	germline	11	45806240	TACGTCGGTGTGGCCTTCTACAATGTGGGCCGCTCACTCACCACCGTCTTCAACGTGCTGC
121918477	28342	NM_000506.3(F2):c.940C>T (p.Arg314Cys)	F2	Nov 15, 1986	MedGen:C0272317,SNOMED CT:33297000	Hereditary factor II deficiency disease	germline	11	46726563	GATGAGGACTCAGACAGGGCCATCGAAGGGCGTACCGCCACCAGTGAGTACCAGACTTTCT
76687508	108539	NM_000277.2(PAH):c.721C>T (p.Arg241Cys)	PAH	Mar 28, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852936	CTTCTTTTCATCCCAGCTTGCACTGGTTTCCGCCTCCGACCTGTGGCTGGCCTGCTTTCCT
28939073	20520	NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp)	FBLN5	Jun 01, 2011	MedGen:C1837187,OMIM:608895	Age-related macular degeneration 3	germline	14	91877621	TGCAGAGACCAGCCCTTTACCATCTTGTACCGGGACATGGACGTGGTGTCAGGACGCTCCG
1057519314	361895	NM_001024845.2(SLC6A9):c.1498C>T (p.Gln500Ter)	SLC6A9	Jan 19, 2017	MedGen:C4310943,OMIM:617301,Orphanet:ORPHA289863	Glycine encephalopathy with normal serum glycine	germline	1	44000805	ATGCTGGGATTCCCACCACCCCTCTTCTTTCAGATCTGCTGGCGCTTCGTCTCTCCCGCCA
886041250	264686	NM_000359.2(TGM1):c.379C>T (p.Arg127Ter)	TGM1	Jun 27, 2017	MedGen:CN517202	not provided	germline	14	24261824	TTGCTGAGCTCGCGCTCGGACCAGAACCGCCGAGAGCACCACACAGACGAGTATGAGTACG
886039854	260693	NM_001256865.1(DNAJC6):c.2326C>T (p.Gln776Ter)	DNAJC6	Oct 13, 2016	MedGen:C3809811,OMIM:615528	Parkinson disease 19a, juvenile-onset	germline	1	65408685	GCAGCTGATTTTGAAGACCTACTCTCTGGTCAAGGTTTCAATGCTCACAAAGACAAAAAGG
587783690	168914	NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter)	KMT2D	Feb 08, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49031255	CTCAGCACTGGGCGGGGGTCCGAGGGGCTGCGAGCTGAGATCAACGGGCACATTGACAGCA
137853127	17558	NM_015265.3(SATB2):c.715C>T (p.Arg239Ter)	SATB2	Jul 11, 2017	Gene:100190983,MedGen:C2676739,OMIM:612313,Orphanet:ORPHA251019;MedGen:CN517202	Chromosome 2q32-q33 deletion syndrome;not provided	germline	2	199349159	TTTTATCTCTTAACAGTGGAAAGAGTGGAACGAGAAAACCTTTCAGACTATTGTGTTCTGG
1085307305	414250	NM_001204.6(BMPR2):c.1151C>T (p.Ala384Val)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532607	TTTATCAGGTTGGCACTATCAGATATATGGCACCAGAAGTGCTAGAAGGAGCTGTGAACTT
727504010	177362	NM_022132.4(MCCC2):c.994C>T (p.Arg332Ter)	MCCC2	Jan 21, 2014	MedGen:C1859499,OMIM:210210	3-methylcrotonyl CoA carboxylase 2 deficiency	germline	5	71635241	GGTGCTAACCTTAAGAGGAGCTTTGATGTCCGAGAGGTATGTGAAAGTGGAACTGTGAGCT
56199535	23451	NM_000392.4(ABCC2):c.2302C>T (p.Arg768Trp)	ABCC2	Dec 01, 2010	MedGen:C0022350,OMIM:237500,Orphanet:ORPHA234,SNOMED CT:44553005	Dubin-Johnson syndrome	germline	10	99818820	GGTATAAATCTTAGTGGGGGTCAGAAGCAGCGGATCAGCCTGGCCAGAGCTACCTACCAAA
104893796	28093	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	RHO	Jan 01, 1999	MedGen:C1864869,OMIM:610445	Congenital stationary night blindness, autosomal dominant 1	germline	3	129529014	TCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGT
111033743	36564	NM_000155.3(GALT):c.619C>T (p.Gln207Ter)	GALT	Feb 22, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34648388	GATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCC
387907145	40183	NM_024589.2(ROGDI):c.286C>T (p.Gln96Ter)	ROGDI	Dec 23, 2015	MedGen:C0406740,OMIM:226750,SNOMED CT:109478007	Kohlschutter's syndrome	germline;maternal	16	4800548	GATGTGAACCTGAAGATGCCCCGGAACAACCAGCTGCTGCACTTCGCCTTCCGGGAGGACA
1060499549	389089	NM_021224.5(ZNF462):c.3787C>T (p.Arg1263Ter)	ZNF462	Jan 25, 2017	MedGen:CN241055;MedGen:CN240835	Craniosynostosis;Mental retardation, autosomal dominant	paternal	9	106927699	TCTAATCTGGAGCGGGACAAAACGAAACTCCGAGCACTCAAATGTAGGCAGTGCTCATATA
-1	482201	NM_000214.2(JAG1):c.1615C>T (p.Gln539Ter)	JAG1	Jan 04, 2018	MedGen:CN517202	not provided	germline	20	10648065	TGTGAGCCTAATCCCTGCCAGAACGGTGCCCAGTGCTACAACCGTGCCAGTGACTATTTCT
118192140	76904	NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met)	RYR1	Oct 29, 2016	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;Human Phenotype Ontology:HP:0003789,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905;MedGen:CN239331;MedGen:CN517202	Central core disease;Minicore myopathy;RYR1-Related Disorders;not provided	germline;paternal;unknown	19	38573304	AGGGGCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGT
-1	446247	NM_175914.4(HNF4A):c.403C>T (p.Gln135Ter)	HNF4A	Jul 21, 2017	MedGen:CN517202	not provided	germline	20	44413777	AGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGG
566415362	213818	NM_213599.2(ANO5):c.1210C>T (p.Arg404Ter)	ANO5	Jul 26, 2017	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549;MedGen:C2750076,OMIM:613319,Orphanet:ORPHA399096;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided	germline	11	22255400	GTCACCTTATTTTTGGAGTTTTGGAAACAACGACAAGCCAGACTGGAATATGAATGGGACC
61751383	22946	NM_000350.2(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4	Mar 18, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C1858080,Orphanet:ORPHA364055;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Retinal dystrophy;Retinal dystrophy, early-onset severe;Stargardt disease 1;not provided	germline;unknown	1	94005500	TTTGATGCAATTGATGAGCTGCTCACAGGACGAGAACATCTTTACCTTTATGCCCGGCTTC
398123741	100110	NM_003482.3(KMT2D):c.3532C>T (p.Gln1178Ter)	KMT2D	Aug 07, 2012	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49050056	GTCTACCCCGAATGCAAGCAGACAGCAGGGCAGGGCTCACCATGTGAAGAACAGGAAGAGC
397514332	76319	NM_001077494.3(NFKB2):c.2557C>T (p.Arg853Ter)	NFKB2	Dec 15, 2016	MedGen:C3809991,OMIM:615577,Orphanet:ORPHA293978;MedGen:CN169374	Common variable immunodeficiency 10;not specified	germline;tested-inconclusive	10	102402138	GGAGTGAGGCTGCTGAGGGGTCCAGAAACCCGAGACAAGCTGCCCAGCACAGGTAAAGGGG
74315362	16546	NM_000298.5(PKLR):c.1151C>T (p.Thr384Met)	PKLR	Sep 15, 1991	MedGen:C1849472,OMIM:266200	Pyruvate kinase deficiency of red cells	germline	1	155293556	TGGAGAGCATGATTACCAAGCCCCGGCCAACGAGGGCAGAGACAAGCGATGTCGCCAATGC
397515405	48196	NM_020822.2(KCNT1):c.2782C>T (p.Arg928Cys)	KCNT1	Feb 19, 2015	MedGen:C3554306,OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	germline	9	135779411	ACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCT
12720459	18160	NM_000218.2(KCNQ1):c.1022C>T (p.Ala341Val)	KCNQ1	Sep 05, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Long QT syndrome;Long QT syndrome 1;not provided	germline;unknown	11	2583535	GCTTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCG
121908098	19298	NM_000784.3(CYP27A1):c.1420C>T (p.Arg474Trp)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	germline	2	218814701	TTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGC
180177214	200485	NM_000030.2(AGXT):c.409C>T (p.Gln137Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240870694	ACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGT
397508183	67890	NM_000492.3(CFTR):c.1240C>T (p.Gln414Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117548671	GGATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAATAACAATAGAAAAACTTCTAATG
137852648	24248	NM_002047.3(GARS):c.893C>T (p.Pro298Leu)	GARS	May 01, 2009	MedGen:C1832274,OMIM:601472,Orphanet:ORPHA99938	Charcot-Marie-Tooth disease type 2D	germline	7	30612107	GACTTACTTAAATTTATAGGTACTTGAGACCAGAAACTGCACAGGGGATTTTCTTGAATTT
886039491	260116	NM_004380.2(CREBBP):c.5602C>T (p.Arg1868Trp)	CREBBP	Nov 14, 2016	MedGen:CN517202	not provided	germline	16	3729445	CGCCTGCAGCAGGCCCAGCTCATGCGCCGGCGGATGGCCACCATGAACACCCGCAACGTGC
387907332	51084	NM_007075.3(WDR45):c.637C>T (p.Gln213Ter)	WDR45	Apr 16, 2013	MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284	Neurodegeneration with brain iron accumulation 5	germline	X	49075636	CAGCCAGGCACTGTAGTGGCCTCAGCCTCCCAGAAGGGTACCCTTATTCGCCTCTTTGACA
104893996	20304	NM_003764.3(STX11):c.802C>T (p.Gln268Ter)	STX11	Apr 01, 2006	MedGen:C1863728,OMIM:603552	Hemophagocytic lymphohistiocytosis, familial, 4	germline	6	144187429	CAGGCCAAGGCGCAGGTGCGGAAGGCCGTGCAGTACGAGGAGAAGAACCCCTGCCGGACCC
797045467	207558	NM_017780.3(CHD7):c.5023C>T (p.Gln1675Ter)	CHD7	Mar 02, 2015	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60845036	TGGGATCTGATCACACCCACAGCGGATGGCCAGACTCGAGCCTTGGTCAACCATTCCGGTA
886041226	265153	NM_000444.5(PHEX):c.2104C>T (p.Arg702Ter)	PHEX	Jun 12, 2017	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline	X	22245366	AGGTGCAATTCCTACAGACCAGAAGCTGCCCGAGAACAAGTCCAAATTGGTGCTCACAGTC
483352867	136636	NM_003156.3(STIM1):c.910C>T (p.Arg304Trp)	STIM1	Mar 09, 2017	MedGen:C0410207,OMIM:160565,Orphanet:ORPHA2593,SNOMED CT:240087000;MedGen:C1861451,OMIM:185070,Orphanet:ORPHA3204;MedGen:C1861451,OMIM:185070,Orphanet:ORPHA3204	Myopathy with tubular aggregates;Stormorken syndrome;Stormorken syndrome	de novo;germline;unknown	11	4074620	AAGCAGGAAGCCCAGCGGCTGAAGGAGCTGCGGGAGGGTACTGAGAATGAGCGGAGCCGCC
202073531	361768	NM_033068.2(ACP4):c.331C>T (p.Arg111Cys)	ACP4	Jan 18, 2017	MedGen:C4310630,OMIM:617297	Amelogenesis imperfecta, type IJ	germline	19	50791683	CAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTG
749188610	428626	NM_006772.2(SYNGAP1):c.2899C>T (p.Arg967Ter)	SYNGAP1	Sep 14, 2016	MedGen:C2675473,OMIM:612621	Mental retardation, autosomal dominant 5	germline	6	33443451	CATCACCACCACCACCACCATCACCACCACCGAGGTGGAGAGCCCCCTGGGGACACCTTTG
62638651	24937	NM_000328.2(RPGR):c.703C>T (p.Pro235Ser)	RPGR	Jul 01, 1996	MedGen:C1848295,OMIM:300029;MedGen:CN517202	Retinitis pigmentosa 15;not provided	germline	X	38310690	CCCAATCAGCTCCTGGGCAATCACAGAACACCCCAGCTGGTGTCTGAAATTCCGGAGAAGG
-1	441146	NM_001540.4(HSPB1):c.539C>T (p.Thr180Ile)	HSPB1	Feb 23, 2017	MedGen:CN517202	not provided	germline	7	76304094	CCAAGCTAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCA
398123331	98746	NM_000321.2(RB1):c.1399C>T (p.Arg467Ter)	RB1	May 15, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Retinoblastoma;not provided	germline;somatic	13	48380062	TTTTTAAATTATCTGTTTCAGGAAGAAGAACGATTATCCATTCAAAATTTTAGGTAAATTT
62642937	15667	NM_000277.2(PAH):c.1139C>T (p.Thr380Met)	PAH	Jul 12, 2017	Human Phenotype Ontology:HP:0004923,MedGen:C0751435;MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Hyperphenylalaninemia, non-pku;Phenylketonuria;not provided	germline;unknown	12	102843706	AGAAGACAGCCATCCAAAATTACACTGTCACGGAGTTCCAGCCCCTCTATTACGTGGCAGA
376561094	232257	NM_001128425.1(MUTYH):c.628C>T (p.Gln210Ter)	MUTYH	Sep 25, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline	1	45332636	CACATGCCACGTACAGCAGAGACCCTGCAGCAGCTCCTGCCTGGCGTGGGGCGCTACACAG
199422298	47715	NM_198253.2(TERT):c.2147C>T (p.Ala716Val)	TERT	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	5	1278780	CTCCACTCACACAGGTGGATGTGACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCAC
200293302	150563	NM_058216.2(RAD51C):c.577C>T (p.Arg193Ter)	RAD51C	Aug 04, 2017	MedGen:C3150659,OMIM:613399;MedGen:C3150653,OMIM:613390;MedGen:C3150653,OMIM:613390;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Fanconi anemia, complementation group O;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	58703201	AATTAAGAGTGTTTTGTTGTTTCAGAACACCGAAAAGCTTTGGAGGATTTCACTCTTGATA
137854498	24539	NM_005502.3(ABCA1):c.5038C>T (p.Arg1680Trp)	ABCA1	Jan 01, 2002	na	Tangier disease, variant	germline	9	104798504	GCCAGCTTTGTCGTATTCCTGATCCAGGAGCGGGTCAGCAAAGCAAAACACCTGCAGTTCA
-1	441807	NM_000296.3(PKD1):c.11941C>T (p.Gln3981Ter)	PKD1	Feb 06, 2015	MedGen:CN517202	not provided	germline	16	2090943	CGCCGCTTCACTAGCTTCGACCAGGTGGCGCAGCTGAGCTCCGCAGCCCGTGGCCTGGCGG
121434394	21194	NM_004621.5(TRPC6):c.2683C>T (p.Arg895Cys)	TRPC6	Jul 01, 2005	MedGen:C1858915,OMIM:603965	Focal segmental glomerulosclerosis 2	germline	11	101453068	AAGGAAATTAAGCAGGACATCTCAAGTCTCCGCTATGAACTCCTTGAAGAAAAATCTCAGA
-1	461388	NM_213599.2(ANO5):c.148C>T (p.Arg50Ter)	ANO5	Jun 22, 2017	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549	Limb-girdle muscular dystrophy, type 2L	germline	11	22218255	TCTTTATTGGTTGCTTCACAGCCTGCAAAGCGATTCAATTTGTTCCTGAGGCGGCGGCTTA
-1	432435	NM_012479.3(YWHAG):c.394C>T (p.Arg132Cys)	YWHAG	Sep 19, 2017	MedGen:CN477042,OMIM:617665	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56	germline	7	76329927	TTCTACCTGAAGATGAAAGGGGACTACTACCGCTACCTGGCTGAAGTGGCCACCGGAGAGA
387907065	39902	NM_001145320.1(ADAMTSL2):c.661C>T (p.Arg221Cys)	ADAMTSL2	Jun 01, 2011	MedGen:C3278147,OMIM:231050,SNOMED CT:28557005	Geleophysic dysplasia 1	germline	9	133540980	AGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGTAAGCCAC
750880909	439914	NM_022124.5(CDH23):c.6085C>T (p.Arg2029Trp)	CDH23	Jul 01, 2017	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71791167	GTGACCGTGAGGTCAGGTGTCATCATTGACCGGGAGGCATTCTCGCCACCCATCCTGGAGC
121918519	28280	NM_002743.3(PRKCSH):c.1240C>T (p.Gln414Ter)	PRKCSH	Mar 01, 2003	Human Phenotype Ontology:HP:0006557,MedGen:C0158683,OMIM:174050,SNOMED CT:72925005	Congenital cystic disease of liver	germline	19	11448604	CCCAACGGGGAGTTTGCTTACCTGTACAGCCAGTGCTACGAGCTCACCACCAACGAGTGCG
774115247	421373	NM_004369.3(COL6A3):c.6604C>T (p.Arg2202Ter)	COL6A3	Sep 21, 2015	MedGen:CN517202	not provided	germline	2	237354922	GGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCC
781079248	462695	NM_000059.3(BRCA2):c.1219C>T (p.Gln407Ter)	BRCA2	Jun 12, 2017	MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32332697	CAACTAACCCTTTCAGGTCTAAATGGAGCCCAGATGGAGAAAATACCCCTATTGCATATTT
132630312	26074	NM_001399.4(EDA):c.463C>T (p.Arg155Cys)	EDA	Jul 14, 2017	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005;Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468;MedGen:CN517202	Hypohidrotic X-linked ectodermal dysplasia;Hypohidrotic ectodermal dysplasia;not provided	germline	X	69957093	CCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAG
121918603	27999	NM_001035.2(RYR2):c.6982C>T (p.Pro2328Ser)	RYR2	Feb 16, 2012	MedGen:C4053736,OMIM:604772	Catecholaminergic polymorphic ventricular tachycardia type 1	germline	1	237639068	AATGTCGTGGTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAG
121964994	26998	NM_014425.4(INVS):c.1807C>T (p.Arg603Ter)	INVS	Aug 01, 2003	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	Infantile nephronophthisis	germline	9	100284342	GCTTCCAGAAAGCGAGAGGAAGAAAACAAACGAAAAGAGGCAGAACAGCAAAAAGGAAGGC
-1	442706	NM_006147.3(IRF6):c.25C>T (p.Arg9Trp)	IRF6	Jul 25, 2017	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008;MedGen:CN517202	Van der Woude syndrome;not provided	de novo;germline	1	209801389	CAGATCATGGCCCTCCACCCCCGCAGAGTCCGGCTAAAGCCCTGGCTGGTGGCCCAGGTGG
121918310	20430	NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter)	RRM2B	Jul 20, 2016	MedGen:C2751319,OMIM:613077;MedGen:CN187502;MedGen:CN517202	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5;RRM2B-related mitochondrial disease;not provided	germline	8	102208210	TTAGAAGGAAAAACAAATTTCTTTGAGAAACGAGTTTCAGAGTATCAGCGTTTTGCAGTTA
869025320	223707	NM_032504.1(UNC80):c.151C>T (p.Arg51Ter)	UNC80	Jun 14, 2016	MedGen:C4225203,OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	germline	2	209775898	TTTTTGTTTTTGTATTTACAGTCCTTTGAGCGAGTGTTGGTAGAAAACAAGCTGCATGGCC
137852254	25646	NM_000133.3(F9):c.1025C>T (p.Thr342Met)	F9	Mar 31, 2017	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008;MedGen:CN169374	Hereditary factor IX deficiency disease;not specified	germline	X	139561710	CACCTATTTGCATTGCTGACAAGGAATACACGAACATCTTCCTCAAATTTGGATCTGGCTA
886039447	259843	NM_001069.2(TUBB2A):c.533C>T (p.Thr178Met)	TUBB2A	Jul 08, 2016	MedGen:CN517202	not provided	germline	6	3154668	GCGTCATGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACCCTCTC
29001566	28053	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO	Apr 05, 2017	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151001,OMIM:613731;MedGen:CN517202	Retinitis pigmentosa;Retinitis pigmentosa 4;not provided	germline;unknown	3	129533711	TGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTGTGGCC
886039217	259232	NM_176787.4(PIGN):c.1966C>T (p.Gln656Ter)	PIGN	Sep 29, 2016	MedGen:C3279775,OMIM:614080,Orphanet:ORPHA280633	Multiple congenital anomalies-hypotonia-seizures syndrome 1	germline	18	62102796	ATAAAGGAAGAGCTATTGGTACATCTGTTACAGGTCAGTTACAGATTTTCAATACTATGTT
587783211	165918	NM_018136.4(ASPM):c.10168C>T (p.Arg3390Ter)	ASPM	Dec 17, 2013	MedGen:C1837501,OMIM:608716;MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5;Primary autosomal recessive microcephaly 5	germline	1	197086966	GTAACTGTGCATTTTATTTTGTAGGATGTACGAAGTAGGTCCAAAGTTGTTGACCGTATTT
147713329	49764	NM_025137.3(SPG11):c.6091C>T (p.Arg2031Ter)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44573661	CGGAAAATCTTGGCCTCTCAGCAGCCTGACCGATGCAAACGAGCCCAGGCCTTCATCAGCA
864309504	215004	NM_001303256.2(MORC2):c.260C>T (p.Ser87Leu)	MORC2	Jul 10, 2017	MedGen:C4225243,OMIM:616688,Orphanet:ORPHA466768;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal, type 2z;not provided	germline	22	30949809	ATGCTGCCAGTGTGATCCAGTTTGGGAAGTCGGCCAAGCGAACACCTGAGTCTACTCAGAT
794726871	190202	NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys)	CAPN3	May 12, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42359950	CCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCGGAGTGAAAGAGA
557012154	186798	NM_000051.3(ATM):c.802C>T (p.Gln268Ter)	ATM	Jun 19, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108244927	ATTCTTCCCACTTTGCTTTATATTTGGACTCAACATAGGCTTAATGATTCTTTAAAAGAAG
-1	446533	NM_005629.3(SLC6A8):c.1411C>T (p.Gln471Ter)	SLC6A8	Jul 13, 2017	MedGen:CN517202	not provided	germline	X	153694362	TCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCA
-1	442171	NM_000435.2(NOTCH3):c.421C>T (p.Arg141Cys)	NOTCH3	Jun 18, 2014	MedGen:CN517202	not provided	germline	19	15192218	GGTGCCCGCTGCTCAGTGGGGCCCGATGGACGCTTCCTCTGCTCCTGCCCACCTGGCTACC
1057516094	354013	NM_172107.3(KCNQ2):c.802C>T (p.Leu268Phe)	KCNQ2	Nov 16, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;Human Phenotype Ontology:HP:0200134,MedGen:C0543888	Early infantile epileptic encephalopathy 7;Epileptic encephalopathy	de novo;germline	20	63442420	AACGACCACTTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGGTGAGTTGTGGTCATT
398123000	97528	NM_001271.3(CHD2):c.1396C>T (p.Arg466Ter)	CHD2	May 09, 2016	MedGen:C3809278,OMIM:615369;MedGen:CN517202	Epileptic encephalopathy, childhood-onset;not provided	germline	15	92948970	TTTGTTTTTCAGGCCCTGAAGCAGAGACCACGATTTGTAGCTTTAAAGAAACAACCTGCAT
387906961	39598	NM_024596.4(MCPH1):c.215C>T (p.Ser72Leu)	MCPH1	Dec 01, 2010	MedGen:C1855081,OMIM:251200	Primary autosomal recessive microcephaly 1	germline	8	6414865	AAGCTCAGAAGAGAGGCGTAAAGCTCGTTTCGGTGCTCTGGGTGGAAAAGTAAGCAGTTTC
1057517688	359165	NM_032793.4(MFSD2A):c.476C>T (p.Thr159Met)	MFSD2A	Jan 23, 2018	MedGen:C4225310,OMIM:616486	Primary autosomal recessive microcephaly 15	germline	1	39965333	TTTTCTATTGCCTCTTTGAAACAATGGTCACGGTGAGTGTGGGTACCTCCCTTGGGTGTCT
199473480	67668	NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu)	KCNQ1	Jul 12, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2776006	ACGATGTGCGGGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCAT
876659720	235987	NM_007294.3(BRCA1):c.3979C>T (p.Gln1327Ter)	BRCA1	Jun 17, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	43091552	TTGATTGGTTCTTCCAAACAAATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTG
121918245	16873	NM_001023570.3(IQCB1):c.1069C>T (p.Gln357Ter)	IQCB1	Mar 01, 2005	MedGen:C1836517,OMIM:609254	Senior-Loken syndrome 5	germline	3	121790133	GACCTCAAATTACAATTGCAACTTCAAAGACAGAGAGCCATGAGACTTTCCCGAGAATTGC
-1	458975	NM_017780.3(CHD7):c.5428C>T (p.Arg1810Ter)	CHD7	Feb 16, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60850516	GGCACAGGCTATGAGAAGTACAACTCCATGCGAGCTGACCCCGCGCTGTGCTTTCTGGAAC
121918263	16902	NM_001164730.1(REEP1):c.358C>T (p.Arg120Ter)	REEP1	Jul 13, 2012	MedGen:C1853247,OMIM:610250,Orphanet:ORPHA101011	Spastic paraplegia 31, autosomal dominant	germline	2	86252037	ATCGATGATTGTCTGGTCCAAGCAAAAGACCGAAGTTACGATGCCCTTGTGCACTTCGGGA
727503258	179614	NM_000257.3(MYH7):c.2347C>T (p.Arg783Cys)	MYH7	May 05, 2014	MedGen:CN517202	not provided	germline	14	23425358	CTGGAGGAAATGAGGGACGAGAGGCTGAGCCGCATCATCACGCGTATCCAGGCCCAGTCCC
1057518637	360712	NM_000059.3(BRCA2):c.2266C>T (p.Gln756Ter)	BRCA2	Mar 16, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Hereditary cancer-predisposing syndrome;Neoplasm of the breast	germline	13	32336621	GTGGAATACAGTGATACTGACTTTCAATCCCAGAAAAGTCTTTTATATGATCATGAAAATG
752127949	237297	NM_000159.3(GCDH):c.1156C>T (p.Arg386Ter)	GCDH	Oct 05, 2017	MedGen:CN517202	not provided	germline	19	12897776	GGGAAAGCCCTGGACATCGCCCGCCAGGCCCGAGACATGCTGGGGGGGAATGGGATTTCTG
121434336	16721	NM_005908.3(MANBA):c.1276C>T (p.Gln426Ter)	MANBA	Dec 01, 2002	MedGen:C4048196,OMIM:248510,Orphanet:ORPHA118,SNOMED CT:238047006	Beta-D-mannosidosis	germline	4	102669004	ATGTTTGCCTGTGCCCTTTATCCAACTGATCAGGGCTTCCTGGATTCAGTGACAGCAGAAG
-1	481645	NM_004238.2(TRIP12):c.1507C>T (p.Arg503Ter)	TRIP12	Dec 29, 2017	MedGen:CN517202	not provided	germline	2	229815179	TCTCTTCTTTTCTAGATGAACCATGCTTGTCGAGCCTTAACATACATGATGGAAGCACTTC
199422219	29274	NM_000253.3(MTTP):c.1783C>T (p.Arg595Ter)	MTTP	Sep 02, 1994	MedGen:C0000744,OMIM:200100,Orphanet:ORPHA14,SNOMED CT:190787008	Abetalipoproteinaemia	germline	4	99611156	TTCCTCATATGTTGCAGCAAAATTGTCCGTCGAGTTCTGAAGGAAATGGTCGCTCACAATT
727504089	177238	NM_138694.3(PKHD1):c.2725C>T (p.Arg909Ter)	PKHD1	Dec 13, 2013	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52043721	AGAAATTTTGCCTCATTTCAGGTGGTTGTGCGAGTGAATGATGTACCAGCTCATTGCCCAG
373785974	196433	NM_207111.3(RNF216):c.904C>T (p.Gln302Ter)	RNF216	Apr 28, 2015	MedGen:C1859305,OMIM:212840,Orphanet:ORPHA1173	Gordon Holmes syndrome	germline	7	5741113	CCTGCCCATCCTCTAGGAGAGTTTGAAGACCAGCAGTTAGCAAGTGATGATGAAGAGCCAG
-1	425299	NM_020928.1(ZSWIM6):c.2737C>T (p.Arg913Ter)	ZSWIM6	Feb 09, 2018	MedGen:CN800196,OMIM:617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	de novo;germline	5	61541917	ATGCGAATGACACTGTCAACCTTAAATTGGCGACGGCGGGAGATGGTGAGGTGGCTGGTAA
121913144	29731	NM_000208.3(INSR):c.3079C>T (p.Arg1027Ter)	INSR	Mar 15, 1991	MedGen:C0271690,OMIM:610549,SNOMED CT:9859006;MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Pineal hyperplasia AND diabetes mellitus syndrome	germline	19	7125462	GAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGG
779626155	405690	NM_175629.2(DNMT3A):c.2311C>T (p.Arg771Ter)	DNMT3A	Aug 13, 2015	MedGen:CN517202	not provided	germline	2	25240313	ATGGGCGTTAGTGACAAGAGGGACATCTCGCGATTTCTCGAGGTATAGCCAGCAACCTTGG
113994160	39653	NM_032580.3(HES7):c.73C>T (p.Arg25Trp)	HES7	Jan 17, 2013	MedGen:C3150942,OMIM:613686;MedGen:C1852521,OMIM:122600	Spondylocostal dysostosis 4, autosomal recessive;Spondylocostal dysostosis 5	germline	17	8123096	ATGCTCAAGCCGCTTGTGGAGAAGCGGCGCCGGGACCGCATCAACCGCAGCCTGGAAGAGC
879255245	107263	NM_198173.2(GRHL3):c.1171C>T (p.Arg391Cys)	GRHL3	Jan 02, 2014	MedGen:C1847604,OMIM:606713	Van der Woude syndrome 2	germline	1	24342238	TGTGGCTTGGGCACTGAGCGCCTGGTACACCGTGCTGTCTGCCAGATCAAGATCTTCTGTG
200532368	421997	NM_000153.3(GALC):c.379C>T (p.Arg127Ter)	GALC	May 04, 2017	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005;MedGen:CN517202	Galactosylceramide beta-galactosidase deficiency;not provided	germline	14	87986552	ATGCATTATGCACTAGATGAGAATTATTTCCGAGGATACGAGTGGTGGTTGATGAAAGAAG
869312889	226685	NM_139276.2(STAT3):c.1988C>T (p.Thr663Ile)	STAT3	Sep 15, 2016	MedGen:C4014795,OMIM:615952,Orphanet:ORPHA438159	Autoimmune disease, multisystem, infantile-onset, 1	de novo;germline	17	42322395	TCATCATGGGCTATAAGATCATGGATGCTACCAATATCCTGGTGTCTCCACTGGTCTATCT
397515639	94245	NM_001942.3(DSG1):c.76C>T (p.Arg26Ter)	DSG1	May 23, 2017	MedGen:C1835661,OMIM:148700;MedGen:CN517202	Keratosis palmoplantaris striata 1;not provided	germline	18	31326608	CAGGTGGTGGTAGAAGTTAACAGTGAATTCCGAATCCAGGTAATATATAACAAATCCATTT
137853311	26791	NM_001110556.1(FLNA):c.1966C>T (p.Leu656Phe)	FLNA	Aug 15, 2001	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154364582	CACGTGCTGTGCAACAGCGAAGACATCCGCCTCAGCCCCTTCATGGCTGACATCCGTGACG
104894811	25471	NM_001097642.2(GJB1):c.514C>T (p.Pro172Ser)	GJB1	Dec 24, 1993	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	germline	X	71224221	ATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGT
863224997	213866	NM_004006.2(DMD):c.4240C>T (p.Gln1414Ter)	DMD	Jun 21, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN169374	Duchenne muscular dystrophy;not specified	germline	X	32390175	CTAATAATGCTATCCTCCCAACAGAAAATCCAATCTGATTTGACAAGTCATGAGATCAGTT
121912423	29860	NM_001025107.2(ADAR):c.1192C>T (p.Gln398Ter)	ADAR	Jul 01, 2006	MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED CT:239085000	Symmetrical dyschromatosis of extremities	germline	1	154597125	GAGGCGACCAACTCCATGGCTTCTGATAACCAGGTAGGGCGTTTTCCTACTCAAAAGATAC
886039520	260251	NM_003073.4(SMARCB1):c.1096C>T (p.Arg366Cys)	SMARCB1	Jul 14, 2016	MedGen:CN517202	not provided	germline	22	23833681	CTGACAGACGCTGAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGTACCCCT
121434511	16931	NM_015488.4(PNKD):c.26C>T (p.Ala9Val)	PNKD	Jan 12, 2016	Human Phenotype Ontology:HP:0012194,MedGen:C1863061;MedGen:C1869117,OMIM:118800,Orphanet:ORPHA98810,SNOMED CT:49949003;Human Phenotype Ontology:HP:0007166,MedGen:C1836174;Human Phenotype Ontology:HP:0002268,MedGen:C0393588	Episodic hemiplegia;Paroxysmal choreoathetosis;Paroxysmal dyskinesia;Paroxysmal dystonia	germline;unknown	2	218270561	TGAACATGGCGGCGGTGGTAGCTGCTACGGCGCTGAAGGGCCGGGGGGCGAGAAATGCCCG
-1	482023	NM_003482.3(KMT2D):c.12730C>T (p.Gln4244Ter)	KMT2D	Jun 20, 2017	MedGen:CN517202	not provided	germline	12	49031975	AGTCAGGCAGTACGCCAGACCCCACCCTACCAGGAGCCTGGGACCCAGACCTCTCCCCTCC
863225426	214754	NM_024809.4(TCTN2):c.1873C>T (p.Gln625Ter)	TCTN2	May 13, 2011	MedGen:C4084841,OMIM:616654	Joubert syndrome 24	germline	12	123706829	GCATCCGTCCAGTTTATTAAAATTCCTGCACAGTTACCCCACCCCCTGACAAGGTACTCCA
794726809	187742	NM_001165963.1(SCN1A):c.4412C>T (p.Ser1471Phe)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	165998102	TTTACTTTGTTATTTTCATCATCTTTGGGTCCTTCTTCACCTTGAACCTGTTTATTGGTGT
104894446	22028	NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe)	MGAT2	Oct 01, 1996	MedGen:C0349654,OMIM:212066,SNOMED CT:277894008	Carbohydrate-deficient glycoprotein syndrome type II	germline	14	49622137	AGCAAGAGTGCCCTGAATGTGATGTTCTCTCCCTGGGGACCTATAGTGCCAGTCGCAGTTT
864309712	215782	NM_015202.3(KIAA0556):c.2674C>T (p.Gln892Ter)	KIAA0556	Feb 08, 2018	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C4084843,OMIM:616784	Joubert syndrome;Joubert syndrome 26	germline	16	27749634	ACGCCGTCACGGTCAAGGTGGCGCAGTGAGCAGGAGCACACACTTCACGAGTCATGGAGCT
61750434	21811	NM_153818.1(PEX10):c.373C>T (p.Arg125Ter)	PEX10	Aug 01, 1998	MedGen:C3553948,OMIM:614871	Peroxisome biogenesis disorder 6B	germline	1	2408679	CAGGAGCTGCAGGCTGACCCCGACAGTGGGCGACCCTTGCAGGGGAGCCTGGGGCCAGGTG
61751362	26858	NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter)	MECP2	Feb 26, 2018	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004;MedGen:C1845336,OMIM:300496;MedGen:C1845336,OMIM:300496;Gene:57790,MedGen:C1846058,OMIM:300260,Orphanet:ORPHA1762;MedGen:C1968550,OMIM:300055;MedGen:C1968550,OMIM:300055;MedGen:C1968550,OMIM:300055;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370;MedGen:CN517202	Angelman syndrome;Autism, susceptibility to, X-linked 3;Autism, susceptibility to, X-linked 3;MECP2 duplication syndrome;Mental retardation, X-linked, syndromic 13;Mental retardation, X-linked, syndromic 13;Mental retardation, X-linked, syndromic 13;Rett syndrome;Rett syndrome;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;not provided	de novo;germline;unknown	X	154030948	AAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCA
866380588	402552	NM_000546.5(TP53):c.574C>T (p.Gln192Ter)	TP53	Sep 20, 2016	MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001	Li-Fraumeni syndrome	germline	17	7674957	CACTGATTGCTCTTAGGTCTGGCCCCTCCTCAGCATCTTATCCGAGTGGAAGGAAATTTGC
886039662	259916	NM_000368.4(TSC1):c.2593C>T (p.Gln865Ter)	TSC1	Jun 16, 2016	MedGen:CN517202	not provided	germline	9	132900747	CTTGGGGAGGTCAACGAGCTCTATTTGGAACAACTGCAGAACAAGCACTCAGATACCACAA
587777294	132053	NM_152305.2(POGLUT1):c.652C>T (p.Arg218Ter)	POGLUT1	Jan 02, 2014	MedGen:C3810313,OMIM:615696	Dowling-degos disease 4	germline	3	119486846	ACGTGTTTCTTTTATAGGACAAGTCCAGAACGAGATCCTCTCATTCTTCTGTCTCGGAAAA
281865107	39633	NM_024747.5(HPS6):c.223C>T (p.Gln75Ter)	HPS6	Dec 01, 2009	MedGen:C3888007,OMIM:614075	Hermansky-Pudlak syndrome 6	germline	10	102065697	GCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGC
587780082	133292	NM_001128425.1(MUTYH):c.1012C>T (p.Gln338Ter)	MUTYH	Jul 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3272841;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MUTYH-associated polyposis;MYH-associated polyposis;not provided	germline	1	45331835	GGATCTCCGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCCCTCGGAGC
119456962	17675	NM_153240.4(NPHP3):c.1729C>T (p.Arg577Ter)	NPHP3	Sep 19, 2014	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006;MedGen:C2673885,OMIM:267010,Orphanet:ORPHA3032;MedGen:C2673883,OMIM:208540,Orphanet:ORPHA294415	Adolescent nephronophthisis;Meckel syndrome type 7;Renal-hepatic-pancreatic dysplasia	germline	3	132700348	ACCAGCTCAGAGTCCTCCTTGATTATTAAACGACTAACTCTAAAGGTATAGTATCCCATCT
398124603	102514	NM_183050.3(BCKDHB):c.970C>T (p.Arg324Ter)	BCKDHB	Jun 14, 2016	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline;unknown	6	80273153	TTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGA
751425603	372716	NM_006755.1(TALDO1):c.574C>T (p.Arg192Cys)	TALDO1	Feb 07, 2017	MedGen:CN517202	not provided	germline	11	763456	GGTGTGACCCTCATCTCCCCATTTGTTGGGCGCATCCTTGATTGGCATGTGGCAAACACCG
387907235	44226	NM_000349.2(STAR):c.577C>T (p.Arg193Ter)	STAR	Mar 24, 1995	MedGen:C0342474,OMIM:201710,Orphanet:ORPHA90790,SNOMED CT:44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency	germline	8	38146036	GACTTTGTGAGCGTGCGCTGTGCCAAGCGCCGAGGCTCCACCTGTGTGCTGGCTGGCATGG
771917370	245672	NM_000527.4(LDLR):c.631C>T (p.His211Tyr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11105537	GAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCG
863224032	210959	NM_024996.5(GFM1):c.700C>T (p.Arg234Ter)	GFM1	May 02, 2014	MedGen:CN517202	not provided	germline	3	158652106	CAAAATATTTGCTTTCTTAGTCAGATTGTTCGATATGGTGAGATTCCAGCTGAATTAAGGG
387906916	39451	NM_022726.3(ELOVL4):c.646C>T (p.Arg216Ter)	ELOVL4	Jun 11, 2017	MedGen:C3280856,OMIM:614457,Orphanet:ORPHA352333;MedGen:CN517202	Ichthyosis, spastic quadriplegia, and mental retardation;not provided	germline	6	79919443	CCATGGATTCAGAAATATCTTTGGTGGAAACGATACCTGACTATGTTGCAACTGGTGAGTT
137853294	28126	NM_000321.2(RB1):c.1981C>T (p.Arg661Trp)	RB1	Jul 06, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790;MedGen:C4288013	Hereditary cancer-predisposing syndrome;Retinoblastoma;Vulvar adenocarcinoma of mammary gland type	germline;somatic	13	48459708	ATTCCCACAGTGTATCGGCTAGCCTATCTCCGGCTAAATACACTTTGTGAACGCCTTCTGT
118204048	15806	NM_015702.2(MMADHC):c.748C>T (p.Arg250Ter)	MMADHC	Apr 03, 2008	MedGen:C1848552,OMIM:277410	Methylmalonic acidemia with homocystinuria cblD	germline	2	149570117	AACACTCTTTTTGAAACTGATGAACGCTACCGACATTTAGGATTCTCTGTTGATGACCTTG
267607573	57239	NM_170707.3(LMNA):c.700C>T (p.Gln234Ter)	LMNA	Feb 13, 2017	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	1	156134865	ACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATG
80356903	69645	NM_007294.3(BRCA1):c.3718C>T (p.Gln1240Ter)	BRCA1	Jul 14, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43091813	TTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG
1057519541	362353	NM_003159.2(CDKL5):c.2641C>T (p.Gln881Ter)	CDKL5	Nov 16, 2016	MedGen:C0014547,SNOMED CT:29753000	Focal epilepsy	de novo	X	18628515	TTCTCAGAAATTCGGATTCACCCCCTGAGCCAGGCCTCTGGCGGGAGCAGCAACATCCGGC
121965059	15220	NM_000274.3(OAT):c.677C>T (p.Ala226Val)	OAT	Mar 01, 1995	MedGen:CN068398	Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia	germline	10	124403892	AGCGTGCTCTTCAGGATCCAAATGTGGCTGCGTTCATGGTAGAACCAATTCAGGGTGAAGC
397518046	57783	NM_206933.2(USH2A):c.9304C>T (p.Gln3102Ter)	USH2A	Mar 11, 2013	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215838058	ATATATGCCTGCGTGAAAAGCAATGGAACCCAAATTACCACTGTGGAAGACACTCCAAGTG
779526456	214310	NM_001173990.2(TMEM216):c.217C>T (p.Arg73Cys)	TMEM216	Feb 23, 2015	MedGen:C1842577,OMIM:608091	Joubert syndrome 2	unknown	11	61393964	CTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGA
121917965	79419	NM_006920.4(SCN1A):c.301C>T (p.Arg101Trp)	SCN1A	Mar 28, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	de novo;germline;unknown	2	166058652	ATAGTATTGAATAAAGGGAAGGCCATCTTCCGGTTCAGTGCCACCTCTGCCCTGTACATTT
141340759	83245	NM_021628.2(ALOXE3):c.631C>T (p.Arg211Ter)	ALOXE3	Jan 02, 2018	MedGen:CN517202	not provided	germline	17	8114533	CCATCCCTGATGTACATGGAGCCCAATGTTCGATACTCAGCCACCAAGACGATCTCGCTGC
139024319	243921	NM_134425.2(SLC26A1):c.554C>T (p.Thr185Met)	SLC26A1	Jul 20, 2016	Human Phenotype Ontology:HP:0008672,MedGen:C1833683,OMIM:167030,SNOMED CT:444717006	Calcium oxalate urolithiasis	germline	4	991150	GCTACGCCATCCGTGTCGCCACCGCCCTCACGCTGATGACCGGGCTTTACCAGGTGAGGAG
104886405	36052	NM_000495.4(COL4A5):c.4177C>T (p.Gln1393Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108681867	CAGCCTGGGCTAAAGGGTCTACCAGGACCCCAAGGACCTCAAGGCTTACCAGGTACCAATG
-1	474645	NM_000535.6(PMS2):c.2413C>T (p.Gln805Ter)	PMS2	Nov 27, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	5977620	GGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGT
132630289	26125	NM_001128834.2(PLP1):c.128C>T (p.Thr43Ile)	PLP1	Jul 31, 1995	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000	Pelizaeus-Merzbacher disease	germline	X	103785705	GTGGCTGTGGACATGAAGCCCTCACTGGCACAGAAAAGCTAATTGAGACCTATTTCTCCAA
866402530	234362	NM_000051.3(ATM):c.8218C>T (p.Gln2740Ter)	ATM	Jun 30, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108335911	CAGGTCTTCCAGATGTGTAATACATTACTGCAGAGAAACACGGAAACTAGGAAGAGGAAAT
575822089	227149	NM_001163435.2(TBCK):c.376C>T (p.Arg126Ter)	TBCK	Oct 30, 2017	MedGen:C4225161,OMIM:616900;MedGen:CN517202	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3;not provided	germline	4	106262103	GCATTGTCTCCTCATAATATCCTGTTGGACCGAAAGGTAATTGTTAAATCATGTAATAAAT
-1	440071	NM_020800.2(IFT80):c.1561C>T (p.Leu521Phe)	IFT80	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	3	160280770	ACTTTGGCATGGAACGATACATGCAATATCCTTTGTGGACTTCAAGATACTCGATTTATAG
74315329	22988	NM_000261.1(MYOC):c.1102C>T (p.Gln368Ter)	MYOC	Jun 14, 2016	Human Phenotype Ontology:HP:0012108,MedGen:C0339573,OMIM:137760,SNOMED CT:77075001;MedGen:C1842028,OMIM:137750	Primary open angle glaucoma;Primary open angle glaucoma juvenile onset 1	germline	1	171636338	AAGGAAATCCCTGGAGCTGGCTACCACGGACAGTTCCCGTATTCTTGGGGTGGCTACACGG
794728865	196942	NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter)	SCN5A	Jul 10, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Brugada syndrome;Long QT syndrome 1;not provided	germline	3	38585903	ATCGTGTTCATCTTTGCTGTGGTGGGCATGCAGCTCTTTGGCAAGAACTACTCGGAGCTGA
121918555	15464	NM_030773.3(TUBB1):c.952C>T (p.Arg318Trp)	TUBB1	Jan 08, 2009	MedGen:C2751259,OMIM:613112	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	germline	20	59024379	GGCCGCTACCTCACAGTGGCCTGCATTTTCCGGGGCAAGATGTCCACCAAGGAAGTGGACC
751478142	226064	NM_004134.6(HSPA9):c.376C>T (p.Arg126Trp)	HSPA9	Jul 12, 2017	MedGen:C4225180,OMIM:616854	Even-plus syndrome	germline	5	138570994	ACATTTTATGCTACCAAGCGTCTCATTGGCCGGCGATATGATGATCCTGAAGTACAGAAAG
763191789	359822	NM_014251.2(SLC25A13):c.955C>T (p.Arg319Ter)	SLC25A13	Dec 13, 2016	MedGen:C1997910,SNOMED CT:429735007;MedGen:CN517202	Citrin deficiency;not provided	germline	7	96184990	GCAAAGCAGAAGGCCTCAGGTGATTCAGCTCGACCAGTTCTTCTACAAGTTGCAGAGTCGG
398123593	99553	NM_006920.4(SCN1A):c.4186C>T (p.Arg1396Ter)	SCN1A	May 09, 2013	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	germline	2	166002537	CTAAAACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATA
80358665	66295	NM_000059.3(BRCA2):c.4285C>T (p.Gln1429Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32338640	AAAGATTTTGAGACTTCTGATACATTTTTTCAGACTGCAAGTGGGAAAAATATTAGTGTCG
776513864	426947	NM_001171.5(ABCC6):c.2293C>T (p.Arg765Trp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178920	GGAGGCCAGAAGCAGCGGCTGAGCCTGGCCCGGGCTGTATACAGAAAGGCAGCTGTGTACC
63749932	45234	NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter)	MSH2	Aug 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided	germline;unknown	2	47476399	CCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCC
267607210	21260	NM_004737.5(LARGE1):c.992C>T (p.Ser331Phe)	LARGE1	Nov 01, 2008	MedGen:C3150414,OMIM:613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	germline	22	33384205	AGAGGGAGCTCATGGGCATGCTCTCTACATCCTTAGCTGACCAGGTGAGTGGCCAGGTTCG
72558421	103170	NM_000531.5(OTC):c.643C>T (p.Leu215Phe)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403720	ATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAAC
376633424	205492	NM_001083961.1(WDR62):c.3304C>T (p.Gln1102Ter)	WDR62	Oct 19, 2017	Human Phenotype Ontology:HP:0002269,MedGen:C1837249;MedGen:CN517202	Abnormality of neuronal migration;not provided	germline;maternal	19	36102820	TTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCA
774357869	214085	NM_005060.3(RORC):c.113C>T (p.Ser38Leu)	RORC	Aug 07, 2015	MedGen:C4225266,OMIM:616622,Orphanet:ORPHA477857	Immunodeficiency 42	germline	1	151817238	TGATCCCTTGCAAAATCTGTGGGGACAAGTCGTCTGGGATCCACTACGGGGTTATCACCTG
104894925	25584	NM_006915.2(RP2):c.76C>T (p.Gln26Ter)	RP2	Aug 01, 1998	MedGen:C2681923,OMIM:312600	Retinitis pigmentosa 2	germline	X	46837176	CGGCCCGAGAACGAGGAGGAGCGGCCAAAGCAGTACAGCTGGGATCAGCGCGAGAAGGTAA
63751226	96577	NM_000251.2(MSH2):c.472C>T (p.Gln158Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47410199	GTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATT
63750291	96482	NM_000251.2(MSH2):c.2581C>T (p.Gln861Ter)	MSH2	Sep 05, 2013	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47480818	CTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAA
1064796530	408711	NM_000020.2(ACVRL1):c.1027C>T (p.Gln343Ter)	ACVRL1	Feb 20, 2017	MedGen:CN517202	not provided	germline	12	51915479	AGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGG
756564767	202591	NM_000391.3(TPP1):c.379C>T (p.Arg127Ter)	TPP1	Mar 30, 2015	MedGen:CN517202	not provided	germline	11	6617627	CAGGACTTTCTGACTTGCTGGCTGAGCATCCGGTGAGAGGAAATGATTGCTCCATGGAGGG
63751310	95436	NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter)	MLH1	Apr 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	3	37048595	CCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAG
-1	431426	NM_002585.3(PBX1):c.550C>T (p.Arg184Ter)	PBX1	Aug 25, 2017	MedGen:CN417140,OMIM:617641	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY	germline	1	164799738	GAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCC
374419983	200792	NM_201384.2(PLEC):c.46C>T (p.Arg16Ter)	PLEC	Jun 01, 2015	MedGen:C4225309,OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy	germline	8	143939416	CTCCGCGTGCCGCAGCCCGAGGGCCTGGGCCGAAAGAGAACCAGCTCGGAGGACAACCTGT
80358806	66601	NM_000059.3(BRCA2):c.5773C>T (p.Gln1925Ter)	BRCA2	Mar 28, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32340128	ACGCATTCACATAAGGTTTTTGCTGACATTCAGAGTGAAGAAATTTTACAACATAACCAAA
373525781	464682	NM_000057.3(BLM):c.1933C>T (p.Gln645Ter)	BLM	Jul 27, 2017	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006;MedGen:C0027672,SNOMED CT:699346009	Bloom syndrome;Hereditary cancer-predisposing syndrome	germline	15	90763016	GCATCCAGAAATCTGAAACATGAGCGTTTCCAAAGTCTTAGTTTTCCTCATACAAAGGAAA
-1	456381	NM_001458.4(FLNC):c.7294C>T (p.Gln2432Ter)	FLNC	Jul 27, 2017	MedGen:CN239310	Dilated Cardiomyopathy, Dominant	germline	7	128856560	AAGGTGAACCAGCCAGCGTCCTTTGCCGTGCAGCTGAACGGTGCCCGGGGCGTGATTGATG
104894237	23714	NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu)	KCNJ11	Dec 01, 2004	MedGen:C0027773,OMIM:601820,SNOMED CT:42681006	Islet cell hyperplasia	germline	11	17387331	TGGGTGGCAACAGCATCTTCCTGGTGGCCCCGCTGATCATCTACCATGTCATTGATGCCAA
387907002	39715	NM_133261.2(GIPC3):c.565C>T (p.Arg189Cys)	GIPC3	Dec 01, 2011	MedGen:C1866094,OMIM:601869	Deafness, autosomal recessive 15	germline	19	3586967	GAGCTGCCCAAGTCCCAGCCCTTCACCCTGCGCCTGGTGCAGCCCAAGAGGGCCTTCGGTG
863223953	211619	NM_012062.4(DNM1L):c.1207C>T (p.Arg403Cys)	DNM1L	Sep 27, 2017	MedGen:C3280660,OMIM:614388,Orphanet:ORPHA330050;MedGen:CN517202	Encephalopathy due to defective mitochondrial and peroxisomal fission 1;not provided	de novo;germline	12	32731362	GAGTTCTAAGTTTTATTTTCTCAGGGTCCTCGTCCTGCTTTATTTGTGCCTGAGGTTTCAT
796065343	204572	NM_156039.3(CSF3R):c.1853C>T (p.Thr618Ile)	CSF3R	Dec 26, 2014	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0005506,MeSH:D015464,MedGen:C0023473,OMIM:608232,Orphanet:ORPHA521;MedGen:CN232350	Acute myeloid leukemia;Chronic myeloid leukemia;Early T cell progenitor acute lymphoblastic leukemia	somatic	1	36467833	CCACCAACAGTACAGTCCTCACCCTGATGACCTTGACCCCAGGTAAGGGGAGACGGGGGCT
267607173	15150	NM_022067.3(VIPAS39):c.535C>T (p.Gln179Ter)	VIPAS39	Apr 01, 2010	MedGen:C3150672,OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	germline	14	77444311	GTTTGCTCACTAGAGAGATTCCGCTCCTTACAGGACAAACTACAACTCCTAGAAGAGGCAG
59885338	29537	NM_170707.3(LMNA):c.892C>T (p.Arg298Cys)	LMNA	Apr 30, 2015	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 2B1;not provided	germline	1	156135268	GCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCC
797046101	209077	NM_007075.3(WDR45):c.400C>T (p.Arg134Ter)	WDR45	Dec 01, 2016	MedGen:CN233043;MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284;MedGen:CN517202	Neurodegeneration with brain iron accululation 5;Neurodegeneration with brain iron accumulation 5;not provided	germline	X	49076469	ATCTATGTGTACTCCTTCCCCGACAATCCCCGAAAGCTGTTTGAGTTTGATACCCGGGACA
104893707	23384	NM_000388.3(CASR):c.553C>T (p.Arg185Ter)	CASR	Aug 01, 1997	MedGen:C1832615,OMIM:239200,Orphanet:ORPHA417	Neonatal severe hyperparathyroidism	germline	3	122261588	AGCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCA
886039402	259877	NM_194456.1(KRIT1):c.1267C>T (p.Arg423Ter)	KRIT1	May 23, 2017	MedGen:C1861784,OMIM:116860;MedGen:CN517202	Cerebral cavernous malformation;not provided	germline	7	92222966	AGTTATCGTTTCTTGTAGTATGAAAAAGTTCGAATATACAGAATGGATGGGTCATATCGTT
397507912	234931	NM_000059.3(BRCA2):c.7366C>T (p.Gln2456Ter)	BRCA2	Feb 10, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline;unknown	13	32355219	AAAAATAAGATTAATGACAATGAGATTCATCAGTTTAACAAAAACAACTCCAATCAAGCAG
137853926	34286	NM_004750.4(CRLF1):c.538C>T (p.Gln180Ter)	CRLF1	Mar 03, 2011	MedGen:C1848947,OMIM:272430	Cold-induced sweating syndrome 1	not provided	19	18598591	TCGCCCTCCCATCCCCGCAGGTGGTATGGCCAGGACAACACATGTGAGGAGTACCACACAG
121918195	16197	NM_001166686.1(PFKM):c.496C>T (p.Arg166Ter)	PFKM	Oct 24, 1995	MedGen:C0017926,OMIM:232800,Orphanet:ORPHA371,SNOMED CT:89597008	Glycogen storage disease, type VII	germline	12	48132913	GGAAGTGCCCGGTGCAAGGACTTTCGGGAACGAGAAGGACGACTCCGAGCTGCCTACAACC
121434283	18638	NM_000016.5(ACADM):c.362C>T (p.Thr121Ile)	ACADM	Jul 24, 2017	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline	1	75733603	AATTGGCTTATGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTTTGGGGGTAAG
387906970	39615	NM_001254729.1(AP4S1):c.124C>T (p.Arg42Ter)	AP4S1	Jun 10, 2011	MedGen:C3279743,OMIM:614067	Spastic paraplegia 52, autosomal recessive	germline	14	31066320	GAAACAGAAGTCATAAAGAGCTGTCTCTCTCGATCCAATGAACAAGTAAGTCTCTGGTTCT
28935474	26567	NM_000047.2(ARSE):c.1732C>T (p.Pro578Ser)	ARSE	Nov 03, 2011	MedGen:C1844853,OMIM:302950,Orphanet:ORPHA79345	Chondrodysplasia punctata 1, X-linked recessive	germline	X	2934870	CCGTGGCTGCAGCCCTGCTGTGGCCCGTTCCCCCTCTGCTGGTGCCTTAGGGAAGATGACC
121908299	19347	NM_001005741.2(GBA):c.481C>T (p.Pro161Ser)	GBA	Jun 15, 1993	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155238624	GTAGGAATCGGATATAACATCATCCGGGTACCCATGGCCAGCTGTGACTTCTCCATCCGCA
-1	424469	NM_172079.2(CAMK2B):c.85C>T (p.Arg29Ter)	CAMK2B	Dec 08, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:CN679648,OMIM:617799	Intellectual disability;MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	de novo;germline	7	44284206	TTCCTCCCCAGGGGGGCTTTCTCTGTGGTCCGACGCTGTGTCAAGCTCTGCACCGGCCATG
28933376	28756	NM_001083116.2(PRF1):c.1304C>T (p.Thr435Met)	PRF1	Mar 15, 2003	MedGen:C1863727,OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	germline	10	70598417	GGGGCCTGTGGGGGGACTGGTTCACTGCCACGGATGCCTATGTGAAGCTCTTCTTTGGTGG
794726766	187811	NM_001165963.1(SCN1A):c.2303C>T (p.Pro768Leu)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166041343	AACATGTTGTCAACCTGGTTGTGATGGACCCATTTGTTGACCTGGCCATCACCATCTGTAT
879254802	246006	NM_000527.4(LDLR):c.1132C>T (p.Gln378Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111585	TGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCC
137853041	21917	NM_003816.2(ADAM9):c.490C>T (p.Arg164Ter)	ADAM9	Nov 03, 2016	MedGen:C1423873,OMIM:612775;MedGen:CN517202	Cone-rod dystrophy 9;not provided	germline	8	39017298	AACAGCTCTCATTTTGAGCACATCATTTATCGAATGGATGATGTCTACAAAGAGCCTCTGA
80359180	24386	NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter)	BRCA2	Jul 31, 2017	MedGen:C2676676,OMIM:604370;MedGen:C2675520,OMIM:612555;MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	13	32380085	CACTTCAGCAAATTTTTAGATCCAGACTTTCAGCCATCTTGTTCTGAGGTGGACCTAATAG
778377449	399125	NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter)	FGD4	Aug 07, 2016	MedGen:CN043578	Charcot-Marie-Tooth disease, type IV	germline	12	32625747	AAATGTAAAGAACCTTTCAATGCACTGACACGAAGGAGGCATCATTGTCGAGCATGTGGAT
398123712	100057	NM_003482.3(KMT2D):c.12430C>T (p.Gln4144Ter)	KMT2D	May 07, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49032275	CTGGCTCAGCCCTCTGTTTCCTTAGGGGATCAGCCTGGGTCCATGACCCAGAACCTTCTGG
762811727	485927	NM_024079.4(ALG8):c.535C>T (p.Arg179Ter)	ALG8	Feb 21, 2018	MedGen:CN818986,OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS	germline	11	78119193	TTATTTGGATTAATGCTACTCTCCATTGCACGATTATTTCAGGTAAACATAATTGTTTAAT
137852962	19590	NM_153638.3(PANK2):c.856C>T (p.Arg286Cys)	PANK2	Aug 01, 2001	MedGen:C0018523,OMIM:234200,Orphanet:ORPHA157850,SNOMED CT:2992000	Pigmentary pallidal degeneration	germline	20	3908153	TGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTA
72650699	360232	NM_001171.5(ABCC6):c.1132C>T (p.Gln378Ter)	ABCC6	Feb 08, 2016	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16202045	CAGCAGAACATGTACAGGCTCAAGGTGCTGCAGATGAGGTTGCGGTCGGCCATCACTGGCC
779315456	377194	NM_000159.3(GCDH):c.937C>T (p.Arg313Trp)	GCDH	Apr 06, 2015	MedGen:CN517202	not provided	germline	19	12896994	GGAGCTTCGGAGTTCTGCTTGCACACAGCCCGGCAGTACGCCCTCGACAGGTGTGTGAGGG
121913550	29403	NM_000302.3(PLOD1):c.955C>T (p.Arg319Ter)	PLOD1	Jan 04, 2013	MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED CT:25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient	germline	1	11958627	CTGCGGCTCCACTACCCCCAGAAACACATGCGACTTTTCATCCACAACCACGTGAGTAACA
118203948	15898	NM_013319.2(UBIAD1):c.524C>T (p.Thr175Ile)	UBIAD1	Feb 01, 2008	Human Phenotype Ontology:HP:0007760,MedGen:C0271287,OMIM:121800,Orphanet:ORPHA98967,SNOMED CT:39662004,SNOMED CT:419395007	Schnyder crystalline corneal dystrophy	germline	1	11274055	TTGGAGGCCTGTCTGGCTCCTTTCTCTACACAGGAGGTAAGATTTGGCCTGTCCTGTGTGC
137852727	76645	NM_024757.4(EHMT1):c.3589C>T (p.Arg1197Trp)	EHMT1	Oct 05, 2010	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Chromosome 9q deletion syndrome	not provided	9	137834397	ATCGACGCGCGGTTCTACGGGAACGTCAGCCGGTTCATCAACCACCACTGCGAGCCCAACC
-1	446049	NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp)	CACNA1A	Jul 17, 2017	MedGen:CN517202	not provided	germline	19	13262751	CGGGTGCTACGACCTCTTAAAACCATCAAGCGGCTGCCAAAGCTCAAGGTGAGATTGGGAG
373180788	444256	NM_004260.3(RECQL4):c.517C>T (p.Gln173Ter)	RECQL4	Jul 06, 2017	MedGen:CN517202	not provided	germline	8	144516602	CCTGAGCCCCAGCCAAGGCCAGGCCGGCTCCAGCATCTGCAGGCATCCCTGAGCCAGCGGC
776127501	214058	NM_020041.2(SLC2A9):c.511C>T (p.Arg171Cys)	SLC2A9	Mar 01, 2012	MedGen:C2677549,OMIM:612076	Renal hypouricemia 2	germline	4	9985693	GCAGGAGCCTTTGAAATGCTCATCGTGGGACGCTTCATCATGGGCATAGATGGAGGTGAGA
104894145	16838	NM_000102.3(CYP17A1):c.1283C>T (p.Pro428Leu)	CYP17A1	Dec 01, 2003	MedGen:CN042980	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102830946	TGAATCCAGCGGGGACCCAGCTCATCTCACCGTCAGTAAGCTATTTGCCCTTCGGAGCAGG
886041522	264396	NM_015046.5(SETX):c.4936C>T (p.Gln1646Ter)	SETX	Jan 26, 2016	MedGen:CN517202	not provided	germline	9	132326662	AAAGTACCACAGCCAGTTCCCCTCATAGCTCAGAAGCCAGTTGGTGAAATGAAGAATTCGT
80357471	69016	NM_007294.3(BRCA1):c.178C>T (p.Gln60Ter)	BRCA1	Apr 22, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	germline	17	43106490	AAACTTCTCAACCAGAAGAAAGGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCA
201405662	269860	NM_001023570.3(IQCB1):c.214C>T (p.Arg72Ter)	IQCB1	Jan 05, 2016	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;MedGen:C1836517,OMIM:609254	Leber congenital amaurosis;Senior-Loken syndrome 5	germline;unknown	3	121828519	TGCCTCTTGGTCCTCAGTCAAGATTATTCTCGAATCCAGGGTGGTTGGACTACAATTTCCC
-1	439232	NM_015909.3(NBAS):c.2167C>T (p.Gln723Ter)	NBAS	Mar 29, 2017	MedGen:CN517202	not provided	germline	2	15461722	GATGCTGAATTCTTTAAGAAATTCAGAAATCAGAATATTGTTCTCTCAGCAAGAACTTATG
587783158	166545	NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter)	CDKL5	Nov 16, 2012	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	germline	X	18628470	GATCCCCGCTTCCAGCCCTTAACAGCTCAACAAACCAAAAATTCCTTCTCAGAAATTCGGA
28939684	22424	NM_172107.3(KCNQ2):c.640C>T (p.Arg214Trp)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63444709	CAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTGCTGGGCTCTG
121434359	16987	NM_030957.3(ADAMTS10):c.952C>T (p.Gln318Ter)	ADAMTS10	Dec 01, 2008	MedGen:C1869114,OMIM:277600	Weill-Marchesani syndrome 1	germline	19	8597075	GGGAAGTCCCTGGACAGCTTCTGTAAGTGGCAGAAATCCATCGTGAACCACAGCGGCCATG
587777593	152759	NM_025150.4(TARS2):c.845C>T (p.Pro282Leu)	TARS2	Aug 01, 2014	MedGen:C4014668,OMIM:615918,Orphanet:ORPHA420733	Combined oxidative phosphorylation deficiency 21	germline	1	150496552	CACTGCAGAGAGTGTCAGGGATTTCCTTCCCCACAACAGAATTGCTGAGGGTCTGGGAAGC
879253867	244154	NM_001142415.1(AIMP1):c.334C>T (p.Gln112Ter)	AIMP1	Aug 18, 2015	MedGen:C1850053,OMIM:260600,Orphanet:ORPHA280293	Leukodystrophy, hypomyelinating 3	inherited	4	106328186	GTAACAACCGTATCTTCTGGTACCAAAGAACAGATAAAAGGAGGAACAGGAGACGAAAAGA
748294403	421442	NM_001904.3(CTNNB1):c.1981C>T (p.Arg661Ter)	CTNNB1	Oct 02, 2015	MedGen:CN517202	not provided	germline	3	41236614	TTAGCGACATATGCAGCTGCTGTTTTGTTCCGAATGTCTGAGGACAAGCCACAAGATTACA
864621971	204430	NM_002968.2(SALL1):c.949C>T (p.Pro317Ser)	SALL1	Apr 01, 2015	MedGen:CN034849,OMIM:107480	Townes-Brocks syndrome 1	germline	16	51141273	TCTGCCAGCATTAGTGGTGTGAAACAGCTACCCCCAATCCAGCTACCTCAGAGCAGTTCTG
374144275	214197	NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter)	CPLANE1	Jan 16, 2017	MedGen:C3553264,OMIM:614615;MedGen:CN517202	Joubert syndrome 17;not provided	germline;unknown	5	37120306	AATCAACATGGTCACAGTTTTCTAATAAATCGACCTGGAAAAGTCAAATATATGTCCAAAC
137853860	34024	NM_000403.3(GALE):c.715C>T (p.Arg239Trp)	GALE	Mar 18, 2016	MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004	UDPglucose-4-epimerase deficiency	germline	1	23796777	ATCCAACACACTCCCTTCTCTGCAGGTGTCCGGGATTACATCCATGTCGTGGATCTGGCCA
74315504	18334	NM_000268.3(NF2):c.1396C>T (p.Arg466Ter)	NF2	Aug 01, 1994	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29674891	CAGGACCTGCAGGAAGCACGCGAGGCGGAGCGAAGAGCCAAGCAGAAGCTCCTGGAGATTG
1057524114	373286	NM_001844.4(COL2A1):c.2818C>T (p.Arg940Ter)	COL2A1	Jan 05, 2017	MedGen:CN517202	not provided	germline	12	47978674	GGTGCTCGAGGAGACAGCGGCCCCCCTGGCCGAGCTGGTGAACCCGGCCTCCAAGGTCCTG
121908070	19182	NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter)	NSD1	Feb 16, 2017	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177238273	TCCCGCTGTGAAGAGGAAAGCCTTCTAGCCCGAGGTCGATCTAGTGCTCAGAACAAGCAGG
121909642	31339	NM_023110.2(FGFR1):c.2164C>T (p.Pro722Ser)	FGFR1	Oct 01, 2006	MedGen:C4016104	Hypogonadotropic hypogonadism 2 with anosmia	germline	8	38414174	CTGCTGAAGGAGGGTCACCGCATGGACAAGCCCAGTAACTGCACCAACGAGCTGTAAGCCC
749479682	406486	NM_000038.5(APC):c.583C>T (p.Gln195Ter)	APC	Nov 10, 2016	MedGen:CN517202	not provided	germline	5	112780841	ACCAGAAGGCAATTGGAATATGAAGCAAGGCAAATCAGAGTTGCGATGGAAGAACAACTAG
387906642	38725	NM_004523.3(KIF11):c.2830C>T (p.Arg944Cys)	KIF11	Feb 10, 2012	MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	germline	10	92649894	TACCCATCAACACTGGTAAGAACTGAACCACGTGAACATCTCCTTGATCAGCTGAAAAGGA
769086289	408541	NM_000545.6(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A	Mar 13, 2017	MedGen:CN517202	not provided	germline	12	120993678	GAGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGT
141458677	431496	NM_001127182.1(CEP55):c.256C>T (p.Arg86Ter)	CEP55	Aug 28, 2017	MedGen:C1856053,OMIM:236500	Hydranencephaly with renal aplasia-dysplasia	germline	10	93503185	CAACTCACAGAGAAGGACAAAGAAATACAGCGACTGAGAGACCAACTGAAGGCCAGATATA
121918048	28539	NM_002693.2(POLG):c.2794C>T (p.His932Tyr)	POLG	Jan 27, 2004	MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	germline	15	89320953	CAGGGCAGGAAGAGCAGGGGCACTGATCTACACAGTAAGACAGCCACTACTGTGGGCATCA
121912886	32424	NM_001844.4(COL2A1):c.4316C>T (p.Thr1439Met)	COL2A1	Sep 15, 2014	Human Phenotype Ontology:HP:0002655,MedGen:C0038015,OMIM:183900,Orphanet:ORPHA253;MedGen:C0796173,OMIM:271700,Orphanet:ORPHA1856	Spondyloepiphyseal dysplasia congenita;Spondyloperipheral dysplasia	germline	12	47974090	TCACGTACACTGCCCTGAAGGATGGCTGCACGGTGAGTGGGGCTGCCAGAGAGAAGAGCTG
1057517785	359933	NM_000280.4(PAX6):c.949C>T (p.Arg317Ter)	PAX6	Jun 03, 2017	MedGen:C0344542,OMIM:106210;Human Phenotype Ontology:HP:0000659,MedGen:C0344559,OMIM:604229,SNOMED CT:204153003;MedGen:CN517202	Aniridia 1;Irido-corneo-trabecular dysgenesis;not provided	germline	11	31793521	TCCTCCTTCACATCTGGCTCCATGTTGGGCCGAACAGACACAGCCCTCACAAACACCTACA
137852443	25314	NM_000132.3(F8):c.5398C>T (p.Arg1800Cys)	F8	Jan 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904999	CTACAGGTAACTTTCAGAAATCAGGCCTCTCGTCCCTATTCCTTCTATTCTAGCCTTATTT
104894660	18304	NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)	MC2R	Apr 16, 2008	MedGen:C4049650,OMIM:202200;MedGen:C1955741	ACTH resistance;Glucocorticoid Deficiency	germline	18	13885110	GACCGCTACATCACCATCTTCCACGCACTGCGGTACCACAGCATCGTGACCATGCGCCGCA
80338773	15893	NM_080669.5(SLC46A1):c.1126C>T (p.Arg376Trp)	SLC46A1	Dec 08, 2011	MedGen:C0342705,OMIM:229050,Orphanet:ORPHA90045,SNOMED CT:62578003;MedGen:CN517202	Congenital defect of folate absorption;not provided	germline	17	28402277	TTCCTGTCATTAGTCATCACACCTGTCATCCGGGCTAAACTCTCCAAGCTGGTGAGAGAGA
775136381	367721	NM_032682.5(FOXP1):c.1489C>T (p.Arg497Ter)	FOXP1	Mar 19, 2017	MedGen:CN517202	not provided	germline	3	70976982	ACACTAAATGAGATCTATAACTGGTTCACACGAATGTTTGCTTACTTCCGACGCAACGCGG
387907349	51197	NM_001130004.1(ACTN1):c.2212C>T (p.Arg738Trp)	ACTN1	Mar 07, 2013	MedGen:C3554663,OMIM:615193	Platelet-type bleeding disorder 15	germline	14	68880030	ATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGA
200585917	45860	NM_001271620.2(ZNF423):c.2558C>T (p.Pro853Leu)	ZNF423	Oct 08, 2012	MedGen:C3539071,OMIM:614844	Nephronophthisis 14	germline	16	49636414	ATCACCGGCTGCGGGACCACAATATCCGGCCGGGCGAGGATGATGGCTCACGCAAGAAGGC
121908760	68108	NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter)	CFTR	Jun 23, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117592292	AATTCTATTCTCAATCCAATCAACTCTATACGAAAATTTTCCATTGTGCAAAAGACTCCCT
138226428	240444	NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter)	LRSAM1	Dec 08, 2016	Gene:431712,MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319	Charcot-Marie-Tooth disease type 2P	germline	9	127487695	CTTTCTGGCAGCATGGCCGAAATGGATGAACGATTCCAGCAGATTCTGTCGTGGCAGCAAA
-1	425753	NM_000168.5(GLI3):c.2071C>T (p.Gln691Ter)	GLI3	May 22, 2017	MedGen:CN517202	not provided	germline	7	41972369	AACACTACCTCAAAGCGGGAAGAATGCCTCCAGGTGAAAACCGTCAAGGCAGAGAAGCCAA
-1	432084	NM_014112.4(TRPS1):c.1093C>T (p.Gln365Ter)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115604876	TATATGGGCAACTCATCCACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAA
121908053	18703	NM_000229.1(LCAT):c.1112C>T (p.Thr371Met)	LCAT	Feb 01, 1992	MedGen:C0342895,OMIM:136120,Orphanet:ORPHA79292,SNOMED CT:238092004	Fish-eye disease	germline	16	67940115	TGGGTGTGCTCTATGAGGATGGTGATGACACGGTGGCGACCCGCAGCACCGAGCTCTGTGG
121917902	16742	NM_000124.3(ERCC6):c.1357C>T (p.Arg453Ter)	ERCC6	Jul 29, 2013	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322	Cockayne syndrome B	germline	10	49524073	GGAGGAGGAGGTCGGAAAGTGGGAAGATACCGAGATGATGGAGATGAAGATTATTATAAGC
74315472	18114	NM_000487.5(ARSA):c.827C>T (p.Thr276Met)	ARSA	Mar 23, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C4017094	Metachromatic leukodystrophy;Metachromatic leukodystrophy, severe	germline;unknown	22	50626618	CCATAGGGGACCTGGGGCTGCTTGAAGAGACGCTGGTCATCTTCACTGCAGACAATGGGTA
121918522	25837	NM_015107.2(PHF8):c.631C>T (p.Arg211Ter)	PHF8	Oct 01, 2005	MedGen:C1846055,OMIM:300263,Orphanet:ORPHA85287	Siderius X-linked mental retardation syndrome	germline	X	54014529	TCTAACCTTGTGGAGACACCGAAGATTGTTCGAAAGCTGTCATGGGTCGAAAACTTGTGGC
775931992	441911	NM_000339.2(SLC12A3):c.1195C>T (p.Arg399Cys)	SLC12A3	Apr 10, 2015	MedGen:CN517202	not provided	germline	16	56879087	TCCTTCCTCCTCTCAGGCTCCTGCGTGGTGCGTGATGCCTCTGGGGTCCTGAATGACACAG
118203988	16337	NM_001042702.3(PJVK):c.161C>T (p.Thr54Ile)	PJVK	Jul 01, 2006	MedGen:C1857744,OMIM:610220	Deafness, autosomal recessive 59	germline	2	178453570	TTCTGTTTCCTAGATATAAATTTACTTCAACACCTTTTACACTGAAAGATATTCTCCTAGG
587783475	169248	NM_004380.2(CREBBP):c.2791C>T (p.Gln931Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3770659	GCAGCCCAGGCCCAGGTGACCCCGCAGCCTCAAACCCCAGTTCAGCCCCCGTCTGTGGCTA
774809466	464463	NM_015346.3(ZFYVE26):c.4132C>T (p.Arg1378Ter)	ZFYVE26	Jun 27, 2017	MedGen:C0037772	Spastic paraplegia	germline	14	67783020	GCCTTCCTCCTGGCTGCCTGGGAGCCCCTGCGAGGGTCTTTGCAGCAGGGGCAGAGTCTGG
794728057	196820	NM_000090.3(COL3A1):c.4072C>T (p.Arg1358Ter)	COL3A1	Aug 25, 2014	MedGen:CN517202	not provided	germline	2	189010708	GATGTCCTTGATGTGCATCTGGCATTCCTTCGACTTCTCTCCAGCCGAGCTTCCCAGAACA
33944208	30499	NM_000518.4(HBB):c.-50-88C>T	HBB	Jun 30, 2017	MedGen:C0472767,Orphanet:ORPHA231222,SNOMED CT:191189009;MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202	Beta thalassemia intermedia;Beta-plus-thalassemia;beta Thalassemia;not provided	germline;unknown	11	5227159	ATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGC
757318536	364416	NM_019032.5(ADAMTSL4):c.421C>T (p.Arg141Ter)	ADAMTSL4	Jan 10, 2017	MedGen:CN517202	not provided	germline	1	150553240	CACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGG
119473035	19212	NM_014140.3(SMARCAL1):c.100C>T (p.Gln34Ter)	SMARCAL1	Feb 01, 2002	MedGen:C0877024,OMIM:242900,Orphanet:ORPHA1830	Schimke immunoosseous dysplasia	germline	2	216414804	AGAGCTGAGAAGTTATTGGCAGAACAGCATCAGAGGACTAGCTCGGGCACCTCCATTGCTG
193922836	28030	NM_000540.2(RYR1):c.10343C>T (p.Ser3448Phe)	RYR1	Dec 27, 2005	Human Phenotype Ontology:HP:0003789,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905;MedGen:CN517202	Minicore myopathy;not provided	germline;unknown	19	38523111	TGGGCGAGATCTTCATCTACTGGTCCAAGTCCCACGTGAGTGCCCACCCCAACCGCCCTCC
281865135	49655	NM_004862.3(LITAF):c.403C>T (p.Pro135Ser)	LITAF	Oct 18, 2012	MedGen:C0270913,OMIM:601098,Orphanet:ORPHA101083,SNOMED CT:4183003	Charcot-Marie-Tooth disease, type 1C	not provided	16	11549720	CCCAGGTGCATAGCGGGCTGCTGCTTCATCCCCTTCTGCGTGGATGCCCTGCAGGACGTGG
121909501	27767	NM_001174136.1(TDGF1):c.326C>T (p.Pro109Leu)	TDGF1	May 01, 2002	MedGen:C1861235	Forebrain defects	germline	3	46579986	GTGGGTCTGTGCCCCATGACACCTGGCTGCCCAAGAAGTGTTCCCTGTGTAAATGCTGGCA
397515324	76338	NM_005850.4(SF3B4):c.1006C>T (p.Arg336Ter)	SF3B4	Aug 01, 2013	Gene:171,MedGen:C0265245,OMIM:154400,SNOMED CT:35520007	Nager syndrome	germline	1	149923922	CCCCCAGGCTCTGGGGGCCAGCCACCGCCCCGACCACCACCTGGAATGCCTCATCCTGGAC
376526037	421792	NM_000124.3(ERCC6):c.1834C>T (p.Arg612Ter)	ERCC6	May 17, 2017	MedGen:CN517202	not provided	germline	10	49483504	ATTTTATTGTGGTCTCAGGAGAAACTAATTCGAGATGTTGCTCATTGTCATGGAATTTTGA
1064795307	407120	NM_032415.5(CARD11):c.2923C>T (p.Arg975Trp)	CARD11	Aug 22, 2017	MedGen:CN417134,OMIM:617638;MedGen:CN517202	IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS;not provided	germline	7	2913383	CTGGTACGCGCCTTCTACTGCGAGCGCCGCCGGCCCGTGCTCTTCACACCCACCGTGCTGG
144885874	21213	NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys)	BCS1L	Sep 20, 2017	MedGen:C1852372,OMIM:124000;MedGen:CN517202	Mitochondrial complex III deficiency;not provided	germline	2	218661845	GGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTC
119103276	17283	NM_000433.3(NCF2):c.298C>T (p.Gln100Ter)	NCF2	Nov 01, 1999	MedGen:C1856245,OMIM:233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	germline	1	183577667	GCTATCAAAGACCTTAAAGAAGCCTTGATTCAGCTTCGAGGGAACCAGCTGATAGACTATA
199472696	67726	NM_000218.2(KCNQ1):c.520C>T (p.Arg174Cys)	KCNQ1	Jun 27, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2570670	GTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGT
387906834	39207	NM_002241.4(KCNJ10):c.193C>T (p.Arg65Cys)	KCNJ10	Jan 01, 2011	MedGen:C2748572,OMIM:612780,Orphanet:ORPHA199343	SeSAME syndrome	germline	1	160042340	CTGTGGACAACCTTCATTGACATGCAGTGGCGCTACAAGCTTCTGCTCTTCTCTGCGACCT
769550316	431016	NM_000137.2(FAH):c.709C>T (p.Arg237Ter)	FAH	Jun 18, 2017	MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006	Tyrosinemia type I	inherited	15	80173016	AAGTCCTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGTCCCTC
769468125	424282	NM_000481.3(AMT):c.350C>T (p.Ser117Leu)	AMT	Jul 18, 2017	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49420332	ACGCTCCACTTTGGTCCTAGGGGACACTGTCGCTGTTTACCAACGAGGCTGGAGGCATCTT
121917719	28828	NM_013953.3(PAX8):c.143C>T (p.Ser48Phe)	PAX8	Jul 01, 2005	Human Phenotype Ontology:HP:0008188,MedGen:C1563716,OMIM:218700	Thyroid agenesis	germline	2	113246802	CCCACCAGGGTGTAAGGCCCTGCGACATCTCTCGCCAGCTCCGCGTCAGCCATGGCTGCGT
886039386	260012	NM_000545.6(HNF1A):c.811C>T (p.Arg271Trp)	HNF1A	Jun 05, 2017	MedGen:CN517202	not provided	germline	12	120994261	GAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGC
751710099	472515	NM_000465.3(BARD1):c.1843C>T (p.Gln615Ter)	BARD1	Aug 04, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214745127	ACTCATGTTGTTGTTCCTGGTGATGCAGTTCAAAGTACCTTGAAGTGTATGCTTGGGATTC
1136743	33147	NM_000331.5(SAA1):c.209C>T (p.Ala70Val)	SAA1	Jun 01, 1995	na	Serum amyloid a variant	germline	11	18269312	ATGATGCTGCCAAAAGGGGACCTGGGGGTGCCTGGGCTGCAGAAGTGATCACGTAACTGGA
397514484	40565	NM_016569.3(TBX3):c.1051C>T (p.Gln351Ter)	TBX3	Dec 01, 2009	MedGen:C1866994,OMIM:181450	Ulnar-mammary syndrome	germline	12	114676361	AGTGAACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCAGCCGCCTCCACTGTAG
11549407	30441	NM_000518.4(HBB):c.118C>T (p.Gln40Ter)	HBB	Jun 21, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:C0271980,SNOMED CT:86715000;MedGen:CN517202;MedGen:CN169374	beta Thalassemia;beta^0^ Thalassemia;not provided;not specified	germline;maternal;unknown	11	5226774	CTTAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGT
137854613	24413	NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter)	SCN5A	Sep 13, 2017	MedGen:CN221565;MedGen:C1859062,OMIM:603830;MedGen:C1837845,OMIM:608567;MedGen:CN517202	Arrhythmogenic right ventricular dysplasia/cardiomyopathy;Long QT syndrome 3;Sick sinus syndrome 1, autosomal recessive;not provided	germline;paternal	3	38551505	CAGAAGTACTTCTTCTCCCCGACGCTCTTCCGAGTCATCCGCCTGGCCCGAATAGGCCGCA
1085307057	227353	NM_000053.3(ATP7B):c.2149C>T (p.Gln717Ter)	ATP7B	Mar 18, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51958517	CAGCTCCTCGGTGGGTGGTACTTCTACGTTCAGGCCTACAAATCTCTGAGACACAGGTCAG
886039821	260583	NM_022068.3(PIEZO2):c.5053C>T (p.Arg1685Ter)	PIEZO2	Dec 21, 2016	MedGen:C4310692,OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	germline	18	10715679	ATTGATATATCTACAGTTCTGAGAATTGAACGATGCATGCTGACCAGAGAAATTAAGAAGG
397514607	48417	NM_001277269.1(OTOG):c.6347C>T (p.Pro2116Leu)	OTOG	Nov 02, 2012	MedGen:C3554163,OMIM:614945	Deafness, autosomal recessive 18b	germline	11	17612638	CCCCTCCCCCAGGCCGGTGCTCAATCTTCCCTGACCTGAGCTTCGTGACCTTCGATGGGAG
587783884	168339	NM_133433.3(NIPBL):c.1372C>T (p.Gln458Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36976279	CCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACCTATATATGATG
886041919	264936	NM_000548.4(TSC2):c.4594C>T (p.Gln1532Ter)	TSC2	Apr 24, 2017	MedGen:C1860707,OMIM:613254;MedGen:CN517202	Tuberous sclerosis 2;not provided	germline	16	2085254	CCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACA
-1	417141	NM_019098.4(CNGB3):c.265C>T (p.Gln89Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	maternal	8	86726604	TCTGGAGATCTGACCACAAACCCTGACCCTCAAAATGCAGCAGAACCAACTGGAACAGTGC
1060502829	401360	NM_178452.5(DNAAF1):c.190C>T (p.Gln64Ter)	DNAAF1	Feb 06, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	16	84149072	TCTGACACATCCTACCACAGCCAGCAGAAACAGAGTGGTGATAATGGGTCAGGTGGTCACT
150518260	51200	NM_000232.4(SGCB):c.341C>T (p.Ser114Phe)	SGCB	Jun 16, 2017	MedGen:C2930900;MedGen:C1858593,OMIM:604286,Orphanet:ORPHA119;MedGen:CN517202	Beta-sarcoglycanopathy;Limb-girdle muscular dystrophy, type 2E;not provided	germline;unknown	4	52029766	AAAGTGGCCTGCTTCGATTTAAGCAAGTATCTGACATGGGAGTGATCCACCCTCTTTATAA
730882155	181287	NM_024678.5(NARS2):c.641C>T (p.Pro214Leu)	NARS2	Jan 01, 2015	MedGen:C4015643,OMIM:616239,Orphanet:ORPHA444458	Combined oxidative phosphorylation deficiency 24	germline	11	78528890	AGGTACCTGAGGAGAATTTCTTCAATGTTCCTGCTTTCTTAACTGTCTCAGGACAACTTCA
121907910	18544	NM_024426.4(WT1):c.1300C>T (p.Arg434Cys)	WT1	Oct 01, 2007	MedGen:C1837026,OMIM:608978,Orphanet:ORPHA3097	Meacham syndrome	germline	11	32392705	GACTTCAAGGACTGTGAACGAAGGTTTTCTCGTTCAGACCAGCTCAAAAGACACCAAAGGA
587777622	153716	NM_001759.3(CCND2):c.842C>T (p.Pro281Leu)	CCND2	Aug 08, 2016	MedGen:C4014742,OMIM:615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	germline	12	4299981	CGGAGGATGAACTGGACCAAGCCAGCACCCCTACAGACGTGCGGGATATCGACCTGTGAGG
1114167756	419458	NM_000179.2(MSH6):c.1243C>T (p.Gln415Ter)	MSH6	Mar 31, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47799226	TCTTGTACTCCTGGGATGAGGAAGTGGTGGCAGATTAAGTCTCAGAACTTTGATCTTGTCA
786203485	182509	NM_005732.3(RAD50):c.412C>T (p.Arg138Ter)	RAD50	Mar 27, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132579363	AGTCTGAGCTCTAAGTGTGCAGAAATTGACCGAGAAATGATCAGTTCTCTTGGGGTTTCCA
745663149	213815	NM_018972.2(GDAP1):c.373C>T (p.Arg125Ter)	GDAP1	May 27, 2014	MedGen:C1859198,OMIM:214400,Orphanet:ORPHA99948	Charcot-Marie-Tooth disease, type 4A	germline	8	74360199	AGCATGTATTACCCACGGGTACAACATTACCGAGAGCTGCTTGACTCCTTGCCAATGGATG
876660444	235619	NM_001042492.2(NF1):c.2887C>T (p.Gln963Ter)	NF1	Aug 18, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31229871	TTGACTGATACCAATACTCAATTTGTAGAACAAACCATAGCTATAATGAAGAACTTGCTAG
28933391	28228	NM_000925.3(PDHB):c.1030C>T (p.Pro344Ser)	PDHB	Jul 01, 2004	MedGen:C3279841,OMIM:614111,Orphanet:ORPHA255138	Pyruvate dehydrogenase E1-beta deficiency	germline	3	58428084	TATGCAAAGATTCTAGAGGACAACTCTATACCTCAGGTCAAAGACATCATATTTGCAATAA
398124050	100672	NM_004006.2(DMD):c.7657C>T (p.Arg2553Ter)	DMD	Jun 02, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31729634	AATCAAGAGGCTAGAACAATCATTACGGATCGAAGTAAGTTTTTTAACAAGCATGGGACAC
104886164	35837	NM_000495.4(COL4A5):c.2215C>T (p.Pro739Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108603032	ACACCTGGAAGAATTGGTCTAGAAGGCCCTCCTGGGCCACCCGGCTTTCCAGGACCAAAGG
80356898	45982	NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1	Aug 14, 2017	Human Phenotype Ontology:HP:0003002,MedGen:C0678222;MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001;MedGen:C1140680,Orphanet:ORPHA213500;MedGen:CN517202	Breast carcinoma;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of ovary;Ovarian cancer;not provided	germline;unknown	17	43093844	CATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAAT
121908298	19344	NM_001005741.2(GBA):c.983C>T (p.Pro328Leu)	GBA	Jan 01, 1992	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155237357	TCATGCTGGATGACCAACGCTTGCTGCTGCCCCACTGGGCAAAGGTGGTAAGGCCTGGACC
312262767	49748	NM_025137.3(SPG11):c.5470C>T (p.Arg1824Ter)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44584210	AATCAGGAGGAAACAGAGCCCAGATTTTCTCGACAGATCTCAACTAGTGGTGAACTTTCCT
121434611	26607	NM_002578.4(PAK3):c.1255C>T (p.Arg419Ter)	PAK3	Sep 01, 1998	MedGen:C0796237,OMIM:300558	Mental retardation 30, X-linked	germline	X	111196488	TGTGCCCAGATCACTCCTGAGCAAAGTAAACGAAGCACTATGGTGGGAACCCCATATTGGA
186547381	45745	NM_004960.3(FUS):c.1292C>T (p.Pro431Leu)	FUS	Aug 10, 2012	MedGen:C3539195,OMIM:614782	Tremor, hereditary essential, 4	germline	16	31190398	AGCGAGCTGGTGACTGGAAGTGTCCTAATCCGTGAGTGAAACTTAATTTTTTTCTTAGTTC
886037857	247579	NM_018480.5(TMEM126B):c.208C>T (p.Gln70Ter)	TMEM126B	Aug 01, 2016	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	11	85634090	ACTGAATTTTTCTTTTTTTCTATTAGGACACAAAATATATATCAAATGGCGACATTTGGAA
63750424	29286	NM_005910.5(MAPT):c.1216C>T (p.Arg406Trp)	MAPT	Nov 26, 2014	Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:CN517202	Frontotemporal dementia;not provided	germline	17	46024061	TCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCA
180177172	200436	NM_000030.2(AGXT):c.130C>T (p.Gln44Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240868995	CCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGT
768671894	186898	NM_000053.3(ATP7B):c.2519C>T (p.Pro840Leu)	ATP7B	Sep 22, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline;unknown	13	51950328	TCGTCAAGGTGGTCCCTGGGGGAAAGTTTCCAGTGGATGGGAAAGTCCTGGAAGGCAATAC
797044546	181178	NM_001242896.1(DEPDC5):c.4567C>T (p.Gln1523Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31906252	CTGCCCTACTCCAAGCGCAAGTTCTCAGGGCAGCAGCGGCGGCGGCGGAACTCCACCAGCT
121918597	27993	NM_001035.2(RYR2):c.6737C>T (p.Ser2246Leu)	RYR2	Jan 10, 2017	MedGen:C1631597,Orphanet:ORPHA3286;MedGen:C4053736,OMIM:604772;MedGen:CN517202	Catecholaminergic polymorphic ventricular tachycardia;Catecholaminergic polymorphic ventricular tachycardia type 1;not provided	germline	1	237634937	GTTCAACACCACTGGATGTGGCTGCAGCTTCGGTGATGGATAATAATGAACTAGCATTAGC
121908526	20686	NM_000030.2(AGXT):c.697C>T (p.Arg233Cys)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240875125	TTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGG
121913610	29193	NM_005373.2(MPL):c.556C>T (p.Gln186Ter)	MPL	Mar 16, 1999	MedGen:C1327915,OMIM:604498,Orphanet:ORPHA3319	Congenital amegakaryocytic thrombocytopenia	germline	1	43339435	CCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTG
398122363	94421	NM_052813.4(CARD9):c.865C>T (p.Gln289Ter)	CARD9	Nov 20, 2013	MedGen:C1859353,OMIM:212050,Orphanet:ORPHA457088	Candidiasis, familial, 2	germline	9	136370380	TACATCCAGGTACTGGAGGAGGACTGGCGGCAGGCGCTGCGGGACCACCAGGAGCAGGCCA
-1	450375	NM_024989.3(PGAP1):c.427C>T (p.Gln143Ter)	PGAP1	Sep 11, 2016	MedGen:C4014343,OMIM:615802	Mental retardation, autosomal recessive 42	germline	2	196916468	GTGGCTTTGTATGGTGGAAGTCTTCAGAAGCAGACCAAGTTTGTACATGAATGTATTAAAA
-1	429810	NM_004380.2(CREBBP):c.1237C>T (p.Arg413Ter)	CREBBP	Jan 19, 2017	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004;MedGen:CN517202	Rubinstein-Taybi syndrome;not provided	germline	16	3792074	CTGGTCATAGTTGCCCATTGTGCATCTTCACGACAAATCATCTCTCATTGGAAGAACTGCA
-1	439843	NM_001136191.2(KANK2):c.2027C>T (p.Ser676Phe)	KANK2	Nov 27, 2017	MedGen:CN651336,OMIM:617783	NEPHROTIC SYNDROME 16	germline	19	11174514	ACGGCAACACAGCCCTGCACTACTCCGTGTCTCATGCCAACTTCCCCGTGGTGCAGCAGCT
-1	427112	NM_003052.4(SLC34A1):c.934C>T (p.Gln312Ter)	SLC34A1	Aug 11, 2017	MedGen:C2676786,OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	unknown	5	177388370	ATCCAGATCTGGTGCCACCCAGACTCCTTACAGGTGAGTCCCAGGCCTAACCCCAGGTAAG
886041578	264910	NM_001083962.1(TCF4):c.1471C>T (p.Gln491Ter)	TCF4	Feb 18, 2016	MedGen:CN517202	not provided	germline	18	55234563	TCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGTAGGTTGGCCTCAC
28940887	18707	NM_000229.1(LCAT):c.475C>T (p.Arg159Trp)	LCAT	Feb 01, 1993	MedGen:C0023195,OMIM:245900,Orphanet:ORPHA650	Norum disease	germline	16	67942719	GTGCAGAACCTGGTCAACAATGGCTACGTGCGGGACGAGACTGTGCGCGCCGCCCCCTATG
768047421	404643	NM_002111.8(HTT):c.2114C>T (p.Pro705Leu)	HTT	Apr 15, 2017	MedGen:CN643601,OMIM:617435	Lopes-Maciel-Rodan syndrome	germline	4	3131647	GCTTGGGTGATTTCTTGGCAGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGC
72552780	28735	NM_018849.2(ABCB4):c.430C>T (p.Arg144Ter)	ABCB4	Oct 01, 2009	MedGen:C3554241,OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	germline	7	87453050	CAAGTTTCATTTTGGACTTTGGCAGCTGGTCGACAGATCAGGAAAATTAGGCAGAAGTTTT
-1	431967	NM_005664.3(MKRN3):c.982C>T (p.Arg328Cys)	MKRN3	Sep 07, 2017	MedGen:C3809199,OMIM:615346	Precocious puberty, central, 2	germline	15	23566764	GTCTATGAGAAGGCCAACCCCAATGACCGCCGCTTTGGCATTCTTTCCAATTGCAACCATT
758236584	187056	NM_000071.2(CBS):c.770C>T (p.Thr257Met)	CBS	May 07, 2017	MedGen:C3150344,OMIM:236200;MedGen:CN517202	Homocystinuria due to CBS deficiency;not provided	germline;unknown	21	43063958	AGCTGGACATGCTGGTGGCTTCAGTGGGCACGGGCGGCACCATCACGGGCATTGCCAGGAA
121908979	21973	NM_001164277.1(SLC37A4):c.1243C>T (p.Arg415Ter)	SLC37A4	Sep 01, 1999	MedGen:C0268146,OMIM:232220,SNOMED CT:30102006	Glucose-6-phosphate transport defect	germline	11	119024957	GCGGCCAGCACGGCTGCCTTCTTCCTCCTACGAAACATCCGCACCAAGATGGGCCGAGTGT
80357369	69550	NM_007294.3(BRCA1):c.3430C>T (p.Gln1144Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43092101	GAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGATGACCTGT
-1	448082	NM_006516.2(SLC2A1):c.835C>T (p.Gln279Ter)	SLC2A1	Mar 26, 2017	MedGen:C3149117	GLUT1 deficiency syndrome 1, autosomal recessive	germline	1	42929625	CGCCAGCCCATCCTCATCGCTGTGGTGCTGCAGCTGTCCCAGCAGCTGTCTGGCATCAACG
587777230	125798	NM_032898.4(CEP19):c.244C>T (p.Arg82Ter)	CEP19	Dec 05, 2013	MedGen:C3810324,OMIM:615703,Orphanet:ORPHA397615	Morbid obesity and spermatogenic failure	germline	3	196707811	AGGCAGCTAGAGAAGCTATTCAGTTTTTTACGAGGTTACTTGTCGGGGCAGAGTCTGGCAG
587777427	139375	NM_005640.2(TAF4B):c.1831C>T (p.Arg611Ter)	TAF4B	Apr 01, 2014	MedGen:C4014449,OMIM:615841	Spermatogenic failure 13	germline	18	26293530	AGAATAAAAGAGAATGTAACATCATGCTTCCGGTAAGAAAATAAATAGTTAAATTTGGTTT
759251812	263643	NM_144772.2(NAXE):c.196C>T (p.Gln66Ter)	NAXE	Nov 14, 2016	MedGen:C4310675,OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	germline	1	156592114	CCGCGGGTTTTCCTCAGCCAGGAGGAGGCCCAGGCCGTGGACCAGGAGCTATTTAACGAAT
121913137	29721	NM_000208.3(INSR):c.2095C>T (p.Gln699Ter)	INSR	May 06, 1988	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7152862	TTCGAGTCTGAAGATTCTCAGAAGCACAACCAGAGTGAGTATGAGGATTCGGCCGGCGAAT
28934591	27133	NM_000196.3(HSD11B2):c.637C>T (p.Arg213Cys)	HSD11B2	Dec 01, 1998	MedGen:C2936861,OMIM:218030	Apparent mineralocorticoid excess	germline	16	67436115	CTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTG
377767383	36216	NM_005359.5(SMAD4):c.1600C>T (p.Gln534Ter)	SMAD4	Dec 04, 2012	MedGen:C1832942,OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	not provided	18	51078408	TGGATTGAAATTCACTTACACCGGGCCCTCCAGCTCCTAGACGAAGTACTTCATACCATGC
-1	444017	NM_017934.6(PHIP):c.4402C>T (p.Gln1468Ter)	PHIP	Jul 06, 2017	MedGen:CN517202	not provided	germline	6	78946229	CCTGAAAGGAAAAAAAGGATCTTAAAACCCCAGCTAAAATCAGAAAGCTCTACCTCTGCAT
397514760	75609	NM_002295.5(RPSA):c.538C>T (p.Arg180Trp)	RPSA	May 24, 2013	MedGen:C1849084,OMIM:271400	Asplenia, isolated congenital	germline	3	39411688	TCAGTGGGTTTGATGTGGTGGATGCTGGCTCGGGAAGTTCTGCGCATGCGTGGCACCATTT
137853146	20541	NM_014244.4(ADAMTS2):c.673C>T (p.Gln225Ter)	ADAMTS2	Jul 10, 2017	MedGen:C2700425,OMIM:225410,Orphanet:ORPHA1901,SNOMED CT:55711009;MedGen:CN517202	Ehlers-Danlos syndrome, type vii, autosomal recessive;not provided	germline;unknown	5	179272926	CCACCCACGTCCCCTCCTCTCGGGGGGCCACAGGCCCTGGACACAGGTGAGGCTACTGCAG
886039408	260290	NM_000425.4(L1CAM):c.1417C>T (p.Arg473Cys)	L1CAM	Mar 20, 2017	MedGen:CN517202	not provided	germline	X	153868690	GAGGATGGGACAACAGTGCTTCAGGACGAACGCTTCTTCCCCTATGCCAATGGGACCCTGG
1131691958	422061	NM_198525.2(KIF7):c.2509C>T (p.Gln837Ter)	KIF7	May 30, 2017	MedGen:CN517202	not provided	germline	15	89633769	AACGTGCAGCTCATGCGGCAGCAGCAGGGACAGCTGCAGAGGCGGCTTCGCGAGGAGACGG
762263694	425758	NM_000162.3(GCK):c.106C>T (p.Arg36Trp)	GCK	Jun 21, 2017	MedGen:C1841962,OMIM:125851;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44153403	CAGGAGGAGGACCTGAAGAAGGTGATGAGACGGATGCAGAAGGAGATGGACCGCGGCCTGA
387907258	45640	NM_001277115.1(DNAH11):c.7772C>T (p.Pro2591Leu)	DNAH11	Feb 25, 2013	MedGen:C2678473,OMIM:611884	Ciliary dyskinesia, primary, 7	germline	7	21738827	CTGAAGTGGACTTATATGGCACCGTTCAGCCTCACACCCTGATCCGGCAGCATATTGATTA
61751374	22933	NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4	Oct 31, 2017	MedGen:C1858806,OMIM:604116;MedGen:C1858806,OMIM:604116;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MeSH:C535804,MedGen:C1855465,OMIM:248200;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Cone-rod dystrophy 3;Cone-rod dystrophy 3;Retinal dystrophy;Stargardt disease 1;Stargardt disease 1;not provided	germline;unknown	1	94043413	CCCAGCTGAAAGGAAAGTCCCAGGAGGAGGCCCAGCTGGAGATGGAAGCCATGTTGGAGGA
121918156	15714	NM_000312.3(PROC):c.793C>T (p.Leu265Phe)	PROC	Nov 15, 1993	MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127427219	ATGGATGAGTCCAAGAAGCTCCTTGTCAGGCTTGGTATGGGCTGGAGCCAGGCAGAAGGGG
1060503138	396356	NM_000535.6(PMS2):c.1891C>T (p.Gln631Ter)	PMS2	Jun 12, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	7	5986874	TCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAG
886041224	265149	NM_000444.5(PHEX):c.1645C>T (p.Arg549Ter)	PHEX	May 02, 2017	MedGen:CN517202	not provided	germline	X	22190502	GCCTTCTACAGTGCATCCACCAACCAGATCCGTGAGTACGGGTTCCTTGTCTCCTTGGTAA
397514506	48063	NM_004281.3(BAG3):c.652C>T (p.Arg218Trp)	BAG3	Jun 24, 2013	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C3151293,OMIM:613881	Arrhythmogenic right ventricular cardiomyopathy;Dilated cardiomyopathy 1HH	germline;unknown	10	119672399	ATTCCGGTGATACACGAGCAGAACGTTACCCGGCCAGCAGCCCAGCCCTCCTTCCACCAAG
1060503770	398068	NM_003002.3(SDHD):c.325C>T (p.Gln109Ter)	SDHD	Nov 16, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1868633,OMIM:168000;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Hereditary cancer-predisposing syndrome;Paragangliomas 1;Pheochromocytoma	germline	11	112094815	GATTTTTTCTTTTTCTTTAGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATG
587776527	132239	NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter)	PALB2	Jul 31, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:C3150547,OMIM:613348;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;not provided	germline	16	23607958	CATCCCTGTGCCAAAGAGAGTGAGTCGTTGCGAAGCCCTGTGTTTCAGCTCATTGTGATTA
139218324	485787	NM_000529.2(MC2R):c.433C>T (p.Arg145Cys)	MC2R	Feb 08, 2013	MedGen:C1955741	Glucocorticoid Deficiency	germline	18	13885086	GCACTGCGGTACCACAGCATCGTGACCATGCGCCGCACTGTGGTGGTGCTTACGGTCATCT
397507859	66780	NM_000059.3(BRCA2):c.6469C>T (p.Gln2157Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32340824	CACTCTATTAAAGTTTCTCCATATCTCTCTCAATTTCAACAAGACAAACAACAGTTGGTAT
281865009	47668	NM_024312.4(GNPTAB):c.3091C>T (p.Arg1031Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101761171	CAATCTGGTGTCTTGTCTGACAGAGAAATCCGAACACTGGCTACCAGAATTCACGAACTGC
312262737	49709	NM_025137.3(SPG11):c.2146C>T (p.Gln716Ter)	SPG11	Nov 01, 2016	MedGen:CN239433;MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822;MedGen:CN517202	Spastic Paraplegia, Recessive;Spastic paraplegia 11, autosomal recessive;not provided	germline	15	44626429	ACTTTCTTCAGGATTGATAGTCATTCTGCTCAAAAACTTGAGGAGCTTATTGGCATAGGCC
397515624	79351	NM_000394.3(CRYAA):c.34C>T (p.Arg12Cys)	CRYAA	Jul 01, 2013	MedGen:CN071376	Cataract, autosomal dominant, multiple types, with microcornea	germline	21	43169133	GACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCCAGCCGGC
200659479	217215	NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter)	UNC80	Jan 07, 2016	Human Phenotype Ontology:HP:0001298,MedGen:C1963101;MedGen:C4225203,OMIM:616801	Encephalopathy;Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	germline	2	209813719	TGGTCTCTGATGTACTATCTACAAAGGCTGCGACACATGTTGGAAGAGAAGCCAGAAAAGC
1060500278	401648	NM_000267.3(NF1):c.1726C>T (p.Gln576Ter)	NF1	Dec 29, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31223448	TAACAATGAACTTTATGTTACTGCAGCTCACAAATGCTTTTTTACATCTGCAAGAAATTAA
199422185	34473	NM_018136.4(ASPM):c.9190C>T (p.Arg3064Ter)	ASPM	Apr 14, 2017	MedGen:C1837501,OMIM:608716;MedGen:CN517202	Primary autosomal recessive microcephaly 5;not provided	germline	1	197093156	TCTGCTGCTTTGATCATACAAAAATATATACGAGCCAGGGAGGCTGGAAAGCATGAAAGGA
199474711	51279	NM_152263.3(TPM3):c.11C>T (p.Ala4Val)	TPM3	Apr 11, 2013	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:CN517202	Congenital myopathy with fiber type disproportion;not provided	germline	1	154192008	CCTACCAACAGCCACTGCTCATGATGGAGGCCATCAAGAAAAAGATGCAGATGCTGAAGTT
1057518951	360874	NM_020732.3(ARID1B):c.1612C>T (p.Gln538Ter)	ARID1B	Jan 25, 2014	Human Phenotype Ontology:HP:0001274,MedGen:C1837248;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000998,MedGen:C0020555,Orphanet:ORPHA79365,SNOMED CT:29966009;Human Phenotype Ontology:HP:0002164,MedGen:C1834405;Human Phenotype Ontology:HP:0001319,MedGen:C2267233	Agenesis of corpus callosum;Global developmental delay;Hypertrichosis;Nail dysplasia;Neonatal hypotonia	unknown	6	156829296	TTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGCAGAGCAGTCCGTACCCAGGAG
137854595	260317	NM_000397.3(CYBB):c.907C>T (p.His303Tyr)	CYBB	Mar 21, 2017	MedGen:CN517202	not provided	germline	X	37803886	GACATATGTTTTATTCTATAGGTGGTCACTCACCCTTTCAAAACCATCGAGCTACAGATGA
367543077	51105	NM_152490.4(B3GALNT2):c.1423C>T (p.Gln475Ter)	B3GALNT2	Apr 19, 2013	MedGen:C3554638,OMIM:615181;MedGen:CN517202	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11;not provided	germline;unknown	1	235450286	ACCTGTGAGACAGGAATGCTGTCTTCTCCTCAGTATTCTCCGTGGGAACTGACGGAACTGT
796052925	201113	NM_000310.3(PPT1):c.424C>T (p.Gln142Ter)	PPT1	Mar 29, 2016	MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329;MedGen:CN517202	Ceroid lipofuscinosis neuronal 1;not provided	germline;unknown	1	40091338	CCCATGATCAATCTGATCTCGGTTGGGGGACAACATCAAGGTAACTTTGCCTCTTTGCTTT
146187042	44259	NM_000066.3(C8B):c.271C>T (p.Gln91Ter)	C8B	Sep 01, 2009	MedGen:C3151080,OMIM:613789	Complement component 8 deficiency type 2	germline	1	56956889	CTGCTACAGTACAGGTATGCCTACTTGCTCCAGCCCTCTCAGTTCCATGGGGAACCGTGCA
118203673	58096	NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter)	TSC1	Apr 24, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	9	132902703	CAGAAAGAACAAGCTAGATACAATCAGCTCCAGGAGCAGCGTGACACTATGGTAACCAAGC
1085307455	415104	NM_000162.3(GCK):c.571C>T (p.Arg191Trp)	GCK	May 02, 2017	MedGen:CN517202	not provided	germline	7	44149977	GTCGTGGGGCTTCTGCGAGACGCTATCAAACGGAGAGGGGTGAGGGGGCACCTGTACCTGC
28941784	18134	NM_052845.3(MMAB):c.556C>T (p.Arg186Trp)	MMAB	Feb 02, 2017	Human Phenotype Ontology:HP:0002912,MedGen:C0268583,SNOMED CT:42393006;MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311;MedGen:CN517202	Methylmalonic acidemia;Methylmalonic aciduria cblB type;not provided	germline;unknown	12	109561068	GGCAAGATCAGCTCGGCGCTGCATTTCTGCCGGGCCGTGTGCCGCCGGGCCGAGAGACGGT
281865238	105624	NM_004183.3(BEST1):c.652C>T (p.Arg218Cys)	BEST1	Apr 08, 2015	MedGen:C0339510,OMIM:153700,Orphanet:ORPHA1243,SNOMED CT:90036004;MedGen:CN517202	Vitelliform macular dystrophy type 2;not provided	germline	11	61957402	TCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACG
1131691208	421100	NM_177438.2(DICER1):c.4654C>T (p.Gln1552Ter)	DICER1	Aug 13, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	14	95096266	CAGTCCATTTCTTACGACTTGCACACTGAGCAGTGTATTGCTGACAAAAGCATAGCGGACT
-1	447762	NM_006147.3(IRF6):c.1234C>T (p.Arg412Ter)	IRF6	Mar 25, 2017	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209788590	ATCTACGAGATGTTTTCTGGTGATTTCACACGATCCTTTGATAGTGGCAGTGTCCGCCTGC
397509382	48188	NM_002609.3(PDGFRB):c.2959C>T (p.Arg987Trp)	PDGFRB	Jun 27, 2013	MedGen:C3554321,OMIM:615007	Basal ganglia calcification, idiopathic, 4	germline	5	150117796	TTTCTGAGGAGTGACCACCCAGCCATCCTTCGGTCCCAGGCCCGCTTGCCTGGGTTCCATG
121917828	16992	NM_145200.3(CABP4):c.370C>T (p.Arg124Cys)	CABP4	Oct 01, 2006	MedGen:C1864877,OMIM:610427	Congenital stationary night blindness, type 2B	germline	11	67456191	GGGACATCCTGGACTCTCCCCCTGCAGGACCGCGAACTGGGCCCCGAGGAGCTAGACGGTG
1064793916	406319	NM_000094.3(COL7A1):c.7828C>T (p.Arg2610Ter)	COL7A1	Aug 18, 2015	MedGen:CN517202	not provided	germline	3	48568137	TCCCCAGGAAAGGATGGAGTGCCTGGTATCCGAGGAGAAAAAGGAGATGTTGGCTTCATGG
386833752	70943	NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285;MedGen:C2676790,OMIM:612284	Joubert syndrome 9;Meckel syndrome type 6	unknown	4	15567729	AAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTG
141873759	424543	NM_000280.4(PAX6):c.130C>T (p.Arg44Ter)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo	11	31802715	CACAGCGGGGCCCGGCCGTGCGACATTTCCCGAATTCTGCAGGTGATCCTCCCGGCGCCGC
121434281	18637	NM_000016.5(ACADM):c.734C>T (p.Ser245Leu)	ACADM	Nov 15, 2016	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline	1	75749444	ATTAGGAATTAAACATGGGCCAGCGATGTTCAGATACTAGAGGAATTGTCTTCGAAGATGT
587777567	150450	NM_005429.4(VEGFC):c.628C>T (p.Arg210Ter)	VEGFC	Jul 01, 2014	MedGen:C4014628,OMIM:615907	Lymphedema, hereditary, ID	germline	4	176711575	ACAATCAGTTTTGCCAATCACACTTCCTGCCGATGCATGTCTAAACTGGATGTTTACAGAC
796065348	200763	NM_019074.3(DLL4):c.556C>T (p.Arg186Cys)	DLL4	Aug 19, 2015	MedGen:C0265268,Orphanet:ORPHA974,SNOMED CT:34748004;MedGen:C4225271,OMIM:616589	Adams-Oliver syndrome;Adams-Oliver syndrome 6	germline;paternal	15	40931664	AGTGACAACTACTATGGAGACAACTGCTCCCGCCTGTGCAAGAAGCGCAATGACCACTTCG
104893818	27557	NM_003242.5(TGFBR2):c.1280C>T (p.Pro427Leu)	TGFBR2	Aug 24, 2006	MedGen:C2674876,OMIM:610168	Loeys-Dietz syndrome 2	germline	3	30674130	TATAGGTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAGAATCCAGGATGAATTTGGA
63750763	426788	NM_001171.5(ABCC6):c.4377C>T (p.Arg1459=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150604	ACAGTGCACTGTGCTGCTCATTGCCCACCGCCTGCGCTCCGTGATGGACTGTGCCCGGTAA
587783517	168062	NM_152783.4(D2HGDH):c.566C>T (p.Pro189Leu)	D2HGDH	May 19, 2014	MedGen:C3152055,OMIM:600721	D-2-hydroxyglutaric aciduria 1	germline	2	241743697	GGTATGTGGAGGAACGGGACTTCATCATGCCGCTGGACTTAGGAGCCAAGGGCAGCTGCCA
104893620	24520	NM_001298.2(CNGA3):c.829C>T (p.Arg277Cys)	CNGA3	Oct 01, 2001	MedGen:C1857618,OMIM:216900	Achromatopsia 2	germline	2	98395999	GGCACAAACTACCCAGAAGTGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAAT
-1	417105	NM_019098.4(CNGB3):c.1426C>T (p.Gln476Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86628973	ATGAACAATTACTCCATTCCTAAACTTGTGCAAAAGCGAGTTCGGACTTGGTATGAATATA
28942089	18534	NM_024426.4(WT1):c.1333C>T (p.His445Tyr)	WT1	Apr 01, 1998	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002;MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009	Diffuse mesangial sclerosis;Drash syndrome	germline	11	32392672	TCAGACCAGCTCAAAAGACACCAAAGGAGACATACAGGTTTGTAGGTTCACTTCTCATTGC
777437871	481449	NM_007171.3(POMT1):c.1987C>T (p.Leu663Phe)	POMT1	Dec 13, 2017	MedGen:C3150415,OMIM:613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	maternal	9	131522142	CCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCC
797044814	204271	NM_000084.4(CLCN5):c.2152C>T (p.Arg718Ter)	CLCN5	Sep 25, 2014	MedGen:C1848336,OMIM:300009	Dent disease 1	germline	X	50092130	TGTTTTTTTGTATTGTGTTTGTCTTTTAGGCGATTGCTTGGAATCATTACCAAAAAGGATG
147416429	214207	NM_023073.3(CPLANE1):c.7978C>T (p.Arg2660Ter)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37153973	TAATATTTAGGTCTGCCAAAACCAGAGTTCCGATTCAAAGGACAGAGCACAAAGTCAGACT
375002796	260444	NM_005918.3(MDH2):c.398C>T (p.Pro133Leu)	MDH2	Feb 08, 2017	MedGen:CN240510,OMIM:617339;Human Phenotype Ontology:HP:0007105,MedGen:C1856408;MedGen:CN238762;MedGen:CN238762	Epileptic encephalopathy, early infantile, 51;Infantile encephalopathy;Infantile encephalopathy;Infantile encephalopathy	germline;inherited;not applicable	7	76058047	CCCTGACCGCTGCCTGTGCCCAGCACTGCCCGGAAGCCATGATCTGCGTCATTGCCAATCC
80358981	67021	NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter)	BRCA2	Oct 25, 2017	MedGen:C2676676,OMIM:604370;MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202;MedGen:CN169374	Breast-ovarian cancer, familial 1;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified	germline;unknown	13	32356550	CTGTATCTTGCAAAAACATCCACTCTGCCTCGAATCTCTCTGAAAGCAGCAGTAGGAGGCC
121912510	29471	NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu)	KCNH2	Sep 15, 2000	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C3150943,OMIM:613688	Congenital long QT syndrome;Long QT syndrome 2	germline	7	150948995	CTCTGAACCTGTATGCAAGGCCTGGCAAGTCGAACGGGGATGTGCGGGCCCTCACCTACTG
397515389	39424	NM_005105.4(RBM8A):c.487C>T (p.Arg163Ter)	RBM8A	Dec 08, 2016	MedGen:C0175703,OMIM:274000,Orphanet:ORPHA3320,SNOMED CT:85589009	Radial aplasia-thrombocytopenia syndrome	germline	1	145925920	TCTCCCTGCTTCTTTTTCCCTAGAGGTGGCCGAAGACGCAGCAGAAGTCCAGACCGGAGAC
781848162	264302	NM_018718.2(CEP41):c.418C>T (p.Gln140Ter)	CEP41	Jul 11, 2016	MedGen:CN517202	not provided	germline	7	130404568	GGAGCAGGGGACTCCAGCCGCTCAACTCTTCAGAGGTACTCGAAGCTGATTCATATTTTCA
104893941	23147	NM_003900.4(SQSTM1):c.1175C>T (p.Pro392Leu)	SQSTM1	Apr 18, 2017	MedGen:C4225326,OMIM:616437;MedGen:C4225326,OMIM:616437;MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:2089002;Gene:5131,MedGen:C4085252,OMIM:167250;Gene:5131,MedGen:C4085252,OMIM:167250;MedGen:CN517202	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Paget disease of bone;Paget disease of bone, familial;Paget disease of bone, familial;not provided	germline	5	179836445	GCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCT
775081992	260904	NM_198428.2(BBS9):c.223C>T (p.Arg75Ter)	BBS9	-	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	germline	7	33152811	GCCGAAGATTTGCTTCTAGAAGTGGATCTACGAGATCCAGTACTTCAAGTGGAAGTAGGAA
201947120	31839	NM_001361.4(DHODH):c.1036C>T (p.Arg346Trp)	DHODH	Jan 01, 2010	MedGen:C0265257,OMIM:263750,SNOMED CT:66038001	Miller syndrome	germline	16	72023536	AGCAGCGGGCAGGACGCGCTGGAGAAGATCCGGGCAGGGGCCTCCCTGGTGCAGCTGTACA
727502788	165519	NM_001077494.3(NFKB2):c.2600C>T (p.Ala867Val)	NFKB2	Dec 19, 2014	MedGen:C3809991,OMIM:615577,Orphanet:ORPHA293978	Common variable immunodeficiency 10	germline;tested-inconclusive	10	102402273	TACCCCCAGCAGAGGTGAAGGAAGACAGTGCGTACGGGAGCCAGTCAGTGGAGCAGGAGGC
1064793791	410329	NM_000271.4(NPC1):c.1298C>T (p.Pro433Leu)	NPC1	Jun 22, 2015	MedGen:CN517202	not provided	germline	18	23556271	ACCCTTCGGGAGCTGATGTACCCTTTGGACCTCCGCTTGACATACAGATACTGCACCAGGT
587783792	170060	NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter)	MTM1	Aug 10, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001;MedGen:CN517202	Severe X-linked myotubular myopathy;not provided	germline	X	150660437	ATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTGTGAAT
118204429	15511	NM_000035.3(ALDOB):c.178C>T (p.Arg60Ter)	ALDOB	Oct 07, 2015	Human Phenotype Ontology:HP:0005973,MedGen:C0016751,OMIM:229600,Orphanet:ORPHA469,SNOMED CT:20052008	Hereditary fructosuria	germline;unknown	9	101429901	GAAAACACTGAAGAGAACCGCCGGCAGTTCCGAGAAATCCTCTTCTCTGTGGACAGTTCCA
876658575	235460	NM_004360.4(CDH1):c.2293C>T (p.Gln765Ter)	CDH1	Oct 05, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68828302	TATGATGAAGAAGGAGGCGGAGAAGAGGACCAGGTGGGTTTTGAAAACCTTGGTAGCTCAG
796051885	199890	NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp)	TGFB3	May 30, 2017	MedGen:C3553762,OMIM:614816;MedGen:C3810012,OMIM:615582;MedGen:CN517202	Loeys-Dietz syndrome 4;Loeys-Dietz syndrome 5;not provided	de novo;germline	14	75963344	AACCCGGGCCAGGGGGGTCAGAGGAAGAAGCGGGCTTTGGACACCAATTACTGCTTCCGGT
397507173	46832	NM_000060.4(BTD):c.559C>T (p.Pro187Ser)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644415	GAGCCTTGTCATAGCAGTGACCCAAGGTGCCCAAAAGATGGGAGATACCAGTTCAACACAA
121965058	15216	NM_000274.3(OAT):c.1276C>T (p.Arg426Ter)	OAT	Jul 01, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124397986	CCTCCGCTGGTGATCAAGGAGGATGAGCTTCGAGAGTCCATTGAAATTATTAACAAGACCA
-1	439042	NM_001039590.2(USP9X):c.5395C>T (p.Arg1799Ter)	USP9X	Mar 31, 2017	MedGen:CN517202	not provided	de novo	X	41215962	TTACCTCCTGTTCTTGCTATACAACTAAAGCGATTTGACTATGACTGGGAAAGAGAATGTG
1131690804	420290	NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu)	KIF1A	Sep 15, 2017	MedGen:C3280283,OMIM:614255;MedGen:CN517202	Mental retardation, autosomal dominant 9;not provided	de novo;germline	2	240775895	ACAAGAAAAAGAAGAAGACAGATTTCATTCCGTACCGAGATTCCGTGTTGACCTGGCTCCT
767643821	197071	NM_004415.3(DSP):c.3805C>T (p.Arg1269Ter)	DSP	Aug 17, 2016	MedGen:CN517202	not provided	germline	6	7579995	AGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGG
121908378	20107	NM_014491.3(FOXP2):c.982C>T (p.Arg328Ter)	FOXP2	Mar 02, 2016	MedGen:C0750927,OMIM:602081,Orphanet:ORPHA209908	Speech-language disorder 1	germline	7	114642616	AATGGACAGTCTTCAGTTCTAAGTGCAAGACGAGACAGGTAAATCTCATGAGCTTTATTCT
-1	471825	NM_007194.3(CHEK2):c.1297C>T (p.Gln433Ter)	CHEK2	May 02, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	22	28695205	GGGTATCCACCTTTCTCTGAGCATAGGACTCAAGTGTCACTGAAGGATCAGATCACCAGTG
762773076	433109	NM_000020.2(ACVRL1):c.698C>T (p.Ser233Leu)	ACVRL1	Nov 23, 2016	MedGen:CN169374	not specified	germline	12	51914511	GTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGAC
886037772	227166	NM_017909.3(RMND1):c.565C>T (p.Gln189Ter)	RMND1	Dec 22, 2015	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	6	151436494	GCAGATGAGTATCATCTGGGAAATCTGTCTCAAGATCTGGCCTCCCACGGATATGTTGAAG
587780035	232413	NM_000465.3(BARD1):c.709C>T (p.Gln237Ter)	BARD1	Jul 11, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	2	214781165	GGTGAATTTGACTCCAAAGAGGAATCTAAGCAAAAGCTGGTATCCTTCTGTAGCCAACCAT
199473097	78529	NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys)	SCN5A	Jun 14, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Brugada syndrome;Congenital long QT syndrome;not provided	germline	3	38606710	TCCTTTGCCTGGGCCTTTCTTGCACTCTTCCGCCTGATGACGCAGGACTGCTGGGAGCGCC
886041122	264388	NM_000019.3(ACAT1):c.890C>T (p.Thr297Met)	ACAT1	Sep 30, 2016	MedGen:CN517202	not provided	germline	11	108142500	ATGATGGAGCAGCTGCTCTGGTTCTCATGACGGCAGATGCAGCGAAGAGGCTCAATGTTAC
61753178	18832	NM_000372.4(TYR):c.61C>T (p.Pro21Ser)	TYR	Jul 15, 1992	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178014	TGGAGTTTCCAGACCTCCGCTGGCCATTTCCCTAGAGCCTGTGTCTCCTCTAAGAACCTGA
1057517941	360244	NM_152594.2(SPRED1):c.46C>T (p.Arg16Ter)	SPRED1	Sep 19, 2016	MedGen:CN517202	not provided	germline	15	38299386	CTTTGCATCTATTTTAGTAATAGTTATGCACGAGTGCGAGCTGTGGTGATGACCCGAGATG
121912942	32204	NM_001849.3(COL6A2):c.2455C>T (p.Gln819Ter)	COL6A2	Aug 05, 2015	na;MedGen:C1850671,OMIM:255600;MedGen:CN517202	BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;Myosclerosis, autosomal recessive;not provided	germline	21	46126535	CCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCAC
121909543	33120	NM_001145.4(ANG):c.407C>T (p.Pro136Leu)	ANG	Dec 01, 2007	MedGen:C2678468,OMIM:611895	Amyotrophic lateral sclerosis type 9	germline	14	20693971	ACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCG
121912628	20911	NM_005732.3(RAD50):c.3277C>T (p.Arg1093Ter)	RAD50	Sep 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C2751318,OMIM:613078,Orphanet:ORPHA240760	Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder	germline	5	132618182	GAAGAAATTATTCATTTTAAGAAAGAACTTCGAGAACCACAATTTCGGGATGCTGAGGAAA
375346212	434518	NM_016580.3(PCDH12):c.2515C>T (p.Arg839Ter)	PCDH12	Oct 09, 2017	MedGen:C1855055,OMIM:251280	Microcephaly with spastic quadriplegia	germline	5	141955337	CAAGGCAACCAGGGAGCACCGGCGGAGAGCCGAGAGGTGCTGCAAGACACGGTCAACCTCC
199422242	47552	NM_001363.4(DKC1):c.29C>T (p.Pro10Leu)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154764911	CTGTGTTTGTTTTTTTAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAA
-1	432079	NM_014112.4(TRPS1):c.1882C>T (p.Gln628Ter)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115604087	GGGGCGGCTGGAAGCTCGCGAGTCAAACATCAGTGCCATCAGTGTTCATTCACCACCCCTG
1057518134	360229	NM_000267.3(NF1):c.1591C>T (p.Gln531Ter)	NF1	Sep 02, 2016	MedGen:CN517202	not provided	germline	17	31219068	AGTACAGCAGAATTAATTACAGGGCTCGTCCAACTGGTCCCTCAGTCACACATGCCAGAGA
-1	467433	NM_000346.3(SOX9):c.349C>T (p.Gln117Ter)	SOX9	Nov 16, 2016	MedGen:C1861922,OMIM:114290,Orphanet:ORPHA140,SNOMED CT:74928006	Camptomelic dysplasia	germline	17	72121740	CGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGT
119463990	18239	NM_001079802.1(FKTN):c.139C>T (p.Arg47Ter)	FKTN	Jul 23, 1998	MedGen:CN355827	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4	germline	9	105596631	GGAGCTGGTTTGTCAAAATCCAAAGGAAGCCGAATTGGATTTGATAGCACACAGTGGGTAT
121434561	31815	NM_000234.2(LIG1):c.2311C>T (p.Arg771Trp)	LIG1	Apr 01, 2009	MedGen:C4016019	DNA ligase I deficiency	germline	19	48121244	GTGATCGGCGCCTACCTGGGCCGGGGGAAGCGGGCCGGCCGGTACGGGGGCTTCCTGCTGG
397514681	50334	NM_000541.4(SAG):c.874C>T (p.Arg292Ter)	SAG	Jul 01, 2004	MedGen:C1306122,OMIM:258100,SNOMED CT:193687000	Oguchi's disease	germline	2	233335029	CTGACGCTGCTGCCCTTGCTGGCTAACAATCGAGAAAGGAGAGGCATTGCCCTGGATGGGA
397515426	48436	NM_002768.4(CHMP1A):c.88C>T (p.Gln30Ter)	CHMP1A	May 23, 2017	MedGen:C3554209,OMIM:614961,Orphanet:ORPHA324569;MedGen:CN517202	Pontocerebellar hypoplasia type 8;not provided	germline	16	89651586	AAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGG
121908452	20891	NM_022336.3(EDAR):c.1072C>T (p.Arg358Ter)	EDAR	Jun 20, 2017	MedGen:C1720965,OMIM:129490;MedGen:C0406702,OMIM:224900,Orphanet:ORPHA248,SNOMED CT:27025001;MedGen:C3551587;MedGen:CN517202	Autosomal dominant hypohidrotic ectodermal dysplasia;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant;not provided	germline	2	108897182	CTGCCATTTGATTGCCTCGAGAAGACTAGCCGAATGCTCAGCTCCACGTACAACTCTGAGA
150321966	364135	NM_004092.3(ECHS1):c.518C>T (p.Ala173Val)	ECHS1	Nov 16, 2017	MedGen:C4225391,OMIM:616277;MedGen:CN517202	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency;not provided	germline;inherited;maternal;paternal	10	133366990	CCAGCCATGACCAGCCCCTCCCTGCAGGTGCGGGCGGCACCCAGAGACTCACCCGTGCTGT
587777698	165610	NM_138425.3(C12orf57):c.184C>T (p.Gln62Ter)	C12orf57	Dec 12, 2016	MedGen:C1857512,OMIM:218340,Orphanet:ORPHA1777;MedGen:CN517202	Temtamy syndrome;not provided	germline	12	6944607	CAATTCGTGCTGCCCGTGGCCACGCAGATCCAGCAGGAGGTTATCAAAGCCTATGGCTTCA
749465098	243887	NM_016239.3(MYO15A):c.5809C>T (p.Arg1937Cys)	MYO15A	Jun 06, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18142238	CACAAGATCATCCTGCTGCAAAGCCGGGCCCGTGGCTACCTTGCCAGGTGAGGCACAGAAA
61750137	105152	NM_000350.2(ABCA4):c.4234C>T (p.Gln1412Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94031015	GCTTTGACCCTTCACCCCTGGATATATGGGCAGCAGTACACCTTCTTCAGGTGCGCGGACT
116840750	46872	NM_000168.5(GLI3):c.2146C>T (p.Gln716Ter)	GLI3	Sep 13, 2012	MedGen:C0265220,OMIM:146510,Orphanet:ORPHA672,SNOMED CT:56677004	Pallister-Hall syndrome	not provided	7	41967881	AGCCCTGGTGGTCAGTCTTCATGCAGCAGCCAACAGTCCCCCATCAGCAACTATTCCAACA
45539432	17454	NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter)	PINK1	Sep 16, 2008	MedGen:C1853833,OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	germline	1	20649109	ATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCACCTTGAAAGCCGCAGCT
587782528	152248	NM_058216.2(RAD51C):c.97C>T (p.Gln33Ter)	RAD51C	Jun 23, 2017	MedGen:C3150659,OMIM:613399;MedGen:C3150653,OMIM:613390;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	58692740	GTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGTGAAAC
121434435	21902	NM_001287.5(CLCN7):c.2299C>T (p.Arg767Trp)	CLCN7	Jun 20, 2013	MedGen:C1833700,OMIM:166600;MedGen:C1969106,OMIM:611490	Osteopetrosis autosomal dominant type 2;Osteopetrosis autosomal recessive 4	germline	16	1447038	GTGTTCAAGCTGTTCCGGGCCCTGGGCCTGCGGCACCTGGTGGTGGTGGACAACCGCAATC
387907052	39875	NM_152722.4(HEPACAM):c.292C>T (p.Arg98Cys)	HEPACAM	Apr 08, 2011	MedGen:C3151355,OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	germline	11	124924863	ATCGGCACCCTGCGGCCTGACTATCGAGACCGTATCCGACTCTTTGAAAATGGCTCCCTGC
1057516034	353895	NM_015384.4(NIPBL):c.7150C>T (p.Gln2384Ter)	NIPBL	Nov 03, 2014	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	unknown	5	37052453	TGCCTAAAAGATCCTGTAAGGGGTTTCAGACAAGACGAGTCCTCTAGCGCTTTGTGTTCAC
886041178	265176	NM_000390.3(CHM):c.757C>T (p.Arg253Ter)	CHM	Apr 04, 2017	MedGen:CN517202	not provided	germline	X	85958923	ATTGATCTTCTAATCAAATCTAATGTTAGTCGATATGCAGAGTTTAAAAATATTACCAGGA
375801610	205070	NM_145020.4(CFAP53):c.121C>T (p.Arg41Ter)	CFAP53	Mar 01, 2015	MedGen:C3553676,OMIM:614779	Heterotaxy, visceral, 6, autosomal	germline	18	50262168	CAAGGAGCTGAGCACCATCTAGAAAGAATCCGACGCAGCCATCAGAAGCATAATGCTATTT
781215442	484437	NM_000051.3(ATM):c.7777C>T (p.Gln2593Ter)	ATM	Sep 29, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108332026	ATAACTAAAAATGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATAC
281865491	47590	NM_004614.4(TK2):c.373C>T (p.Gln125Ter)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560	Mitochondrial DNA depletion syndrome 2	not provided	16	66531382	CTCACCATGCTGGACAGGCATACTCGTCCTCAGGTAGGTTTCAGATGCTCAGTTTCAGCCT
-1	440173	NM_001080463.1(DYNC2H1):c.7594C>T (p.Arg2532Trp)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	11	103192150	TATGTGTTAGAAATTGTAGCATATGAGGCACGGCGCTTATTTCGTGACAAAATTGTTGGTG
61752877	104756	NM_000329.2(RPE65):c.370C>T (p.Arg124Ter)	RPE65	Apr 18, 2017	MedGen:C1859844,OMIM:204100;MedGen:C3151086,OMIM:613794;MedGen:CN517202	Leber congenital amaurosis 2;Retinitis pigmentosa 20;not provided	germline	1	68444656	ATTTGTTTCTACAGGTTTTTTTCTTACTTTCGAGGAGTAGAGGTTACTGACAATGCCCTTG
199469465	39866	NM_006662.2(SRCAP):c.7303C>T (p.Arg2435Ter)	SRCAP	Jul 13, 2017	MedGen:C0729582,OMIM:136140,Orphanet:ORPHA2044,SNOMED CT:312214005;MedGen:CN517202	Floating-Harbor syndrome;not provided	de novo;germline	16	30737343	ACACCACCCCGCTGCAGTCCTGCCAGGGAGCGAGTTCCCAGGCCAGCACCTAGGCCTCGAC
59026483	77805	NM_170707.3(LMNA):c.568C>T (p.Arg190Trp)	LMNA	May 16, 2017	MedGen:CN043576;MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;MedGen:C1834481,OMIM:613426;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Dilated cardiomyopathy 1A;Dilated cardiomyopathy 1S;not provided	germline	1	156134457	AAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCA
1114167352	248723	NM_003688.3(CASK):c.1465C>T (p.Arg489Trp)	CASK	Aug 15, 2016	MedGen:CN238491	Smith-Magenis Syndrome-like	de novo	X	41578378	GACATGGATATGGAGAATGTGACCAGAGTTCGGCTGGTACAGTTTCAAAAGAACACAGATG
-1	431071	NM_012160.4(FBXL4):c.1687C>T (p.Gln563Ter)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98875430	GAATTGGCATGTAATTGTACCAGGTTACAGCAGCTGGACATATTAGGTAAGGTTACAATAT
587777042	76930	NM_001916.4(CYC1):c.643C>T (p.Leu215Phe)	CYC1	Oct 26, 2017	MedGen:C3809553,OMIM:615453;MedGen:CN517202	Mitochondrial complex III deficiency, nuclear type 6;not provided	germline	8	144096615	CATGGTGGTGAGGACTACGTCTTCTCCCTGCTCACGGGCTACTGCGAGCCACCCACCGGGG
748769566	273160	NM_004006.2(DMD):c.4483C>T (p.Gln1495Ter)	DMD	Jul 20, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32389536	TTGCCTGCATTGGAAACAAAGAGTGTGGAACAGGAAGTAGTACAGTCACAGCTAAATCATT
121908886	21455	NM_003060.3(SLC22A5):c.844C>T (p.Arg282Ter)	SLC22A5	Nov 16, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline	5	132387044	TGTACTGCCAGGTTCATCCCTGAGTCCCCCCGATGGCTCATCTCTCAGGGACGATTTGAAG
80357402	69482	NM_007294.3(BRCA1):c.3268C>T (p.Gln1090Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43092263	TTGAATGCTATGCTTAGATTAGGGGTTTTGCAACCTGAGGTCTATAAACAAAGTCTTCCTG
149474339	204994	NM_005213.3(CSTA):c.172C>T (p.Arg58Ter)	CSTA	Jun 01, 2015	MedGen:C1842797,OMIM:607936	Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like	germline	3	122341442	GCTTTCTCTTTCTTTAATATTTTTCAGGTACGAGCAGGTGATAATAAATATATGCACTTGA
398124284	101539	NM_014795.3(ZEB2):c.805C>T (p.Gln269Ter)	ZEB2	Apr 22, 2013	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144403918	CATATGGTGACACACAAGCCAGGGACAGATCAGGTGGGGGGATGGTTTTAAGTGATTTCTT
72554310	103001	NM_000531.5(OTC):c.131C>T (p.Thr44Ile)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367344	AAGTGCAGCTGAAGGGCCGTGACCTTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAA
886040658	261362	NM_000059.3(BRCA2):c.6478C>T (p.Gln2160Ter)	BRCA2	Jan 23, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32340833	AAAGTTTCTCCATATCTCTCTCAATTTCAACAAGACAAACAACAGTTGGTATTAGGAACCA
587783626	168573	NM_004456.4(EZH2):c.2050C>T (p.Arg684Cys)	EZH2	Feb 08, 2013	MedGen:C0265210,OMIM:277590,SNOMED CT:63119004	Weaver syndrome	germline	7	148809370	TTCTTTTTAGATTTTGTGGTGGATGCAACCCGCAAGGGTAACAAAATTCGTTTTGCAAATC
397515528	76509	NM_000375.2(UROS):c.311C>T (p.Ala104Val)	UROS	Sep 12, 2013	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	not provided	10	125812222	AGTCAGTGTATGTGGTTGGAAATGCTACTGCTTCTCTAGGTAAGGAGTCAAGGTAAAAATA
41309764	27515	NM_017617.4(NOTCH1):c.3319C>T (p.Arg1107Ter)	NOTCH1	Sep 08, 2005	MedGen:C1260873,OMIM:109730,SNOMED CT:8722008	Aortic valve disorder	germline	9	136508238	CCCAGCGTGTCCTGTGAGGTGGCTGCGCAGCGACAAGGTAACCTGCTGTGCCCACCCAGCT
138877187	187828	NM_001165963.1(SCN1A):c.1624C>T (p.Arg542Ter)	SCN1A	Apr 08, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166045081	AAAGGTTTTCGCTTCTCCATTGAAGGGAACCGATTGACATATGAAAAGAGGTACTCCTCCC
141581673	402988	NM_023036.4(DNAI2):c.1516C>T (p.Arg506Ter)	DNAI2	Jun 09, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	74312024	GGTGCCCAGATGTTTGAGCGTGAGACCCGGCGAGAGAAGATCCTGGAGGCCAGGCACCGGG
878854425	243875	NM_001008537.2(NEXMIF):c.937C>T (p.Arg313Ter)	NEXMIF	Jan 21, 2016	MedGen:CN517202	not provided	germline	X	74743620	CTAGGCAGTGATGTCTGCTCCCTGAAAATTCGATATGAATCCTTTCAGGACAATGTTCGAG
387906846	39250	NM_006015.4(ARID1A):c.4003C>T (p.Arg1335Ter)	ARID1A	Mar 18, 2012	MedGen:C3553247,OMIM:614607	Mental retardation, autosomal dominant 14	germline	1	26773716	CCCCCGCAGCAGCAGCAGCAGCAGCAGCAACGGTGAGTAAAGCCTGGTCTCGGTGCTGCTA
587784444	169201	NM_006662.2(SRCAP):c.7993C>T (p.Gln2665Ter)	SRCAP	Nov 15, 2013	MedGen:C0729582,OMIM:136140,Orphanet:ORPHA2044,SNOMED CT:312214005	Floating-Harbor syndrome	germline	16	30738033	CCACCCTCAGCAGCATCTGATGAGCCACTTCAGGAGCCACTGGAGGCTGACAGGACCTCGG
797045132	205401	NM_005850.4(SF3B4):c.625C>T (p.Gln209Ter)	SF3B4	Sep 07, 2012	Gene:171,MedGen:C0265245,OMIM:154400,SNOMED CT:35520007	Nager syndrome	unknown	1	149926457	AACCCGCTCTCCCAGGCTGATCGCCCTCATCAGCTGTTTGCAGATGCACCTCCTCCACCCT
869025337	223742	NM_001199563.1(BVES):c.602C>T (p.Ser201Phe)	BVES	Aug 09, 2016	MedGen:C4225199,OMIM:616812,Orphanet:ORPHA476084	Muscular dystrophy, limb-girdle, type 2X	germline	6	105124593	ATAACATTTACCCCTGTGCCTTTATAGATTCTCCTGAATTTAGATCAACTCAGATGCACAA
72653147	468422	NM_000088.3(COL1A1):c.2644C>T (p.Arg882Ter)	COL1A1	Dec 22, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:CN517202	Osteogenesis imperfecta type I;not provided	germline	17	50189702	GGTGCTACTGGTTTCCCTGGTGCTGCTGGCCGAGTCGGTCCTCCTGGCCCCTCTGTAAGTC
118192211	203772	NM_172107.3(KCNQ2):c.881C>T (p.Ala294Val)	KCNQ2	May 26, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 7;Epileptic encephalopathy;not provided	de novo;germline	20	63439644	ACCCCCAGACCTGGAACGGCAGGCTCCTTGCGGCAACCTTCACCCTCATCGGTGTCTCCTT
104894903	26468	NM_001129765.1(NSDHL):c.262C>T (p.Arg88Ter)	NSDHL	Jun 27, 2013	MedGen:C0265267,OMIM:308050,Orphanet:ORPHA139,SNOMED CT:17608003	Child syndrome	germline	X	152850418	GTGCGGTTCTTTCTGGGTGACCTCTGCAGCCGACAGGTAATGGACCATGCAGCCTTGCTGA
201391050	39717	NM_017651.4(AHI1):c.985C>T (p.Arg329Ter)	AHI1	Mar 14, 2015	MedGen:C1837713,OMIM:608629;MedGen:CN517202	Joubert syndrome 3;not provided	germline	6	135457660	GATGGTGATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGC
137853220	31008	NM_000515.4(GH1):c.307C>T (p.Arg103Cys)	GH1	Aug 01, 2007	MedGen:C1849779,OMIM:262650,Orphanet:ORPHA629	Kowarski syndrome	germline	17	63917909	GTCCTTCCCCTGCAGAACCTAGAGCTGCTCCGCATCTCCCTGCTGCTCATCCAGTCGTGGC
1057516198	354186	NM_001110556.1(FLNA):c.4450C>T (p.Gln1484Ter)	FLNA	-	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154359008	GACACAAGCAAGGCTGGTGTGGCCCCATTGCAGGTCAAAGTGCAAGGGCCCAAAGGTGAGT
118203923	15660	NM_000277.2(PAH):c.731C>T (p.Pro244Leu)	PAH	Dec 01, 1992	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102852926	TCCCAGCTTGCACTGGTTTCCGCCTCCGACCTGTGGCTGGCCTGCTTTCCTCTCGGGATTT
373899077	431548	NM_000339.2(SLC12A3):c.2581C>T (p.Arg861Cys)	SLC12A3	-	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	unknown	16	56894563	CTCACCCTCCTCATTCCCTATCTCCTTGGCCGCAAGAGGAGGTGGAGCAAATGCAAGATCC
886041218	264205	NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter)	NSD1	Nov 25, 2016	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002;MedGen:CN035106,OMIM:117550;MedGen:CN517202	Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided	germline	5	177273743	CAAAAAGAGCTAAGACAGCTGCAGGAAGACCGAAAGAATGACAAGAAGCCACCACCTTATA
104893769	28057	NM_000539.3(RHO):c.50C>T (p.Thr17Met)	RHO	Sep 15, 1991	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129528783	CTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTACGCAGCCCCTTCGAGTACCC
7755898	27208	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	CYP21A2	Sep 03, 2015	MedGen:C0852654,OMIM:201910;MedGen:C0852654,OMIM:201910	21-hydroxylase deficiency;21-hydroxylase deficiency	germline;unknown	6	32040421	CCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTG
587780784	139767	NM_004360.4(CDH1):c.1003C>T (p.Arg335Ter)	CDH1	Aug 11, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	germline	16	68811854	GTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGG
775269863	481476	NM_145207.2(SPATA5):c.700C>T (p.Gln234Ter)	SPATA5	Sep 08, 2017	MedGen:C4225276,OMIM:616577,Orphanet:ORPHA457351	Epilepsy, hearing loss, and mental retardation syndrome	maternal	4	122934291	ATGGAAACCAGTAGCCTGGAGTTATCCTTACAGCTAAGCCAGTTAGATCTGGAGGATACCC
128626250	26299	NM_004006.2(DMD):c.6292C>T (p.Arg2098Ter)	DMD	Sep 20, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32217062	TTTCTTGATCCATATGCTTTTACCTGCAGGCGATTTGACAGATCTGTTGAGAAATGGCGGC
387906984	39669	NM_014918.4(CHSY1):c.205C>T (p.Gln69Ter)	CHSY1	Dec 10, 2010	MedGen:C1854466,OMIM:605282,Orphanet:ORPHA363417	Temtamy preaxial brachydactyly syndrome	germline	15	101251252	GGCGGGGCGCGCGGCGATGCGCGCGGGGCGCAGCTCTGGCCGCCCGGCTCGGACCCAGATG
80356711	34000	NM_000311.4(PRNP):c.478C>T (p.Gln160Ter)	PRNP	Apr 01, 2011	MedGen:CN181778;MedGen:C0162534,Orphanet:ORPHA56970	CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED;Genetic prion diseases	germline	20	4699698	TATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACA
113994121	15732	NM_001145320.1(ADAMTSL2):c.440C>T (p.Pro147Leu)	ADAMTSL2	Apr 19, 2012	MedGen:C3278147,OMIM:231050,SNOMED CT:28557005	Geleophysic dysplasia 1	germline	9	133540625	CAGATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGG
397515430	48515	NM_001042544.1(LTBP4):c.1453C>T (p.Arg485Ter)	LTBP4	Feb 15, 2013	MedGen:C2750804,OMIM:613177,Orphanet:ORPHA221145	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	germline	19	40608315	AACACCAGACCCCTGGGCCAGGAGCCACCCCGAGTGTCACTCAGCCAGCCTCGTACCCTGC
794729279	199131	NM_001256850.1(TTN):c.58702C>T (p.Arg19568Ter)	TTN	Apr 03, 2014	MedGen:CN517202	not provided	germline	2	178587684	AGAGGACGACCAGCCCCTAAAGTCACTTGGCGAAAAGTTGGCATTGATAATGTGGTCAGAA
121918174	15934	NM_000181.3(GUSB):c.646C>T (p.Arg216Trp)	GUSB	Jan 01, 1993	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65979477	TTTGACTTTTTCAACTACGCTGGACTGCAGCGGTCTGTACTTCTGTACACGACACCCACCA
312262762	49743	NM_025137.3(SPG11):c.4846C>T (p.Gln1616Ter)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44589312	TTGAAGCTTATGCTACAGCAGTGTAAGACCCAGTATGAGCTGGGGAAGCTTTTACAGCTCT
1085307480	415221	NM_016628.4(WAC):c.1837C>T (p.Arg613Ter)	WAC	Apr 28, 2017	MedGen:CN517202	not provided	germline	10	28617747	ACTGAATTAAAAAATTTAAGATCTTTAGTCCGAGTATGTGAAATTCAAGCAACTTTGCGAG
377584435	39566	NM_016123.3(IRAK4):c.34C>T (p.Arg12Cys)	IRAK4	Jun 20, 2017	MedGen:C1843256,OMIM:607676,Orphanet:ORPHA70592;MedGen:CN517202	IRAK4 deficiency;not provided	germline	12	43768145	AACAAACCCATAACACCATCAACATATGTGCGCTGCCTCAATGTTGGACTAATTAGGAAGC
387906801	39129	NM_000445.4(PLEC):c.6169C>T (p.Gln2057Ter)	PLEC	Jan 25, 2011	MedGen:C2931072,OMIM:226670,Orphanet:ORPHA257	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	germline	8	143923841	GAGGCGCGGCGCCTGCGGGAGCGAGCGGAGCAGGAGTCGGCGCGGCAGCTGCAGCTGGCCC
794728647	197558	NM_130799.2(MEN1):c.322C>T (p.Arg108Ter)	MEN1	Apr 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1;not provided	germline	11	64809788	CGAGGCGCCGTCGACCTGTCCCTCTATCCTCGAGAAGGGGGTGTCTCCAGCCGTGAGCTGG
773724817	221670	NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter)	KCNH2	Oct 09, 2016	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Long QT syndrome;Long QT syndrome 2;not provided	germline	7	150948861	TGGTCCAGCCTGGAGATCACCTTCAACCTGCGAGATGTGAGTTGGCTGCCCTGAGCTGGAC
879254789	245983	NM_000527.4(LDLR):c.1096C>T (p.Gln366Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111549	GATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACA
398123704	100046	NM_003482.3(KMT2D):c.11149C>T (p.Gln3717Ter)	KMT2D	Apr 11, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49033556	CGAAGCCTCGGACCTGATTCAAGGCTTTTACAGGAAAGGCAGCTGCAGCTGCAGCAGCAAC
201587138	176561	NM_144612.6(LOXHD1):c.4480C>T (p.Arg1494Ter)	LOXHD1	Sep 12, 2016	MedGen:C2746083,OMIM:613079;MedGen:C2746083,OMIM:613079;MedGen:CN239439;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, autosomal recessive 77;Deafness, autosomal recessive 77;Nonsyndromic Hearing Loss, Recessive;Nonsyndromic hearing loss and deafness;not provided	germline	18	46529227	ATCTATGGAGACCTCGGGGACACTGGGGAGCGATACCTTGGCAAGTCAGAGAACCGGACCA
1085307870	415815	NM_001145408.1(NONO):c.1009C>T (p.Arg337Ter)	NONO	Mar 22, 2017	MedGen:CN517202	not provided	germline	X	71297442	GAAGAGCTGCACAACCAAGAGGTGCAAAAACGAAAGCAACTGGAGCTCAGGTAACTTTTCT
864309577	215284	NM_001904.3(CTNNB1):c.1867C>T (p.Gln623Ter)	CTNNB1	Mar 06, 2015	MedGen:CN517202	not provided	unknown	3	41236412	GTAGCTGCAGGGGTCCTCTGTGAACTTGCTCAGGACAAGGAAGCTGCAGAAGCTATTGAAG
869025592	224825	NM_001039590.2(USP9X):c.1111C>T (p.Arg371Ter)	USP9X	Mar 01, 2016	MedGen:C4225416,OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	germline	X	41141381	GTGATATCTAGTGTATCATACTATACTCATCGACATGGTAATCCTGAGGAGGAAGAGTGGC
199476408	40476	NM_032578.3(MYPN):c.1585C>T (p.Gln529Ter)	MYPN	May 01, 2012	MedGen:CN169883;MedGen:CN517202	Cardiomyopathy, familial restrictive, 4;not provided	germline	10	68165803	AACAAATACGGCACAGTGTCAAGCATTGCACAGCTGCACGTGAGAGGTAAGGACTCTTTAA
-1	439268	NM_020699.3(GATAD2B):c.655C>T (p.Gln219Ter)	GATAD2B	Apr 24, 2017	MedGen:CN517202	not provided	de novo	1	153818114	ATTGTTCAGCCATCTCCTGCCCATGTGGGACAGCAGGGCCTATCTAAGCTTCCCTCTCGGC
80357038	69707	NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter)	BRCA1	Apr 20, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43091636	ACAAAATGTTCTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAA
878853144	237510	NM_001111125.2(IQSEC2):c.3097C>T (p.Gln1033Ter)	IQSEC2	Jul 25, 2014	Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Intellectual disability	de novo	X	53239213	CAGTCTTTCCCCCTCGTGGAAATGCACATGCAGCTCTTCCAGAATTCATGTGAGTCCCTTC
150576702	223763	NM_001012339.2(DNAJC21):c.517C>T (p.Arg173Ter)	DNAJC21	Jul 28, 2016	MedGen:C4310744,OMIM:617052;MedGen:C2986691	Bone marrow failure syndrome 3;Inherited bone marrow failure syndrome	germline;unknown	5	34937404	AATTTTGCATGGAAGGAAGAATATGATACACGACAGGCTTCAAACCGCTGGGAAAAACGAG
587783282	167744	NM_018136.4(ASPM):c.8704C>T (p.Gln2902Ter)	ASPM	Dec 11, 2013	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197100547	CACTACAGAGCATTTCTGTCTGCAAAACATCAAAGACAAGTCTATTTACAGATCAGAAGCA
190386869	36368	NM_000060.4(BTD):c.643C>T (p.Leu215Phe)	BTD	Jun 21, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	unknown	3	15644499	ACCCTTGTTGACCGCTACCGTAAACACAACCTCTACTTTGAGGCAGCATTCGATGTTCCTC
118192181	76894	NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys)	RYR1	Nov 21, 2016	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	de novo;germline;unknown	19	38580439	CTGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGG
137853271	25861	NM_000444.5(PHEX):c.1699C>T (p.Arg567Ter)	PHEX	Feb 03, 2016	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline;paternal;unknown	X	22212957	AAGCCTTTCTTTTGGGGAACAGAATATCCTCGGTGAGTAAATGAGTACAGAAACCAGTTAC
727504293	175177	NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter)	MYBPC3	Feb 05, 2015	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	11	47341006	GCAGAGGTCAAGATTGACTTCGTACCCAGGCAGGGTAAGTCTTGGGGCCCCTGAGTCTTGG
387907092	40028	NM_017950.3(CCDC40):c.1951C>T (p.Gln651Ter)	CCDC40	Jan 01, 2011	MedGen:C3151137,OMIM:613808	Ciliary dyskinesia, primary, 15	germline	17	80082020	ACCTCCAACAAGACCACCAAATACTTCAACCAGCTCATCCTGAGGCTGCAGAAGGAGAAGA
387907268	45727	NM_001077620.2(PRCD):c.64C>T (p.Arg22Ter)	PRCD	Aug 01, 2010	MedGen:C1864621,OMIM:610599	Retinitis pigmentosa 36	germline	17	76540205	GCCATGCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAACCGTGAGAAACTGACCGGGCTA
121965036	15188	NM_000274.3(OAT):c.1186C>T (p.Arg396Ter)	OAT	Feb 15, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124398076	TTAGATTGGGATGCTTGGAAGGTGTGTCTACGACTTCGAGATAATGGACTTCTGGCCAAGC
121908721	17010	NM_000022.3(ADA):c.872C>T (p.Ser291Leu)	ADA	Jan 01, 1992	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44621121	GCAGGCTCAAAAATGACCAGGCTAACTACTCGCTCAACACAGATGACCCGCTCATCTTCAA
398123430	99070	NM_000512.4(GALNS):c.1175C>T (p.Ala392Val)	GALNS	Mar 28, 2013	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88824834	TCTTCTATTACCGTGGCGACACGCTGATGGCGGCCACCCTCGGGCAGCACAAGGCTCACTT
-1	425519	NM_000388.3(CASR):c.658C>T (p.Arg220Trp)	CASR	May 08, 2017	MedGen:C0342345,OMIM:601198;MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:CN517202	Hypocalcemia, autosomal dominant 1;Hypocalciuric hypercalcemia, familial, type 1;not provided	germline	3	122261693	GGCACAATTGCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAG
747682469	272088	NM_001004334.3(GPR179):c.673C>T (p.Gln225Ter)	GPR179	May 19, 2016	MedGen:C3281215,OMIM:614565	Congenital stationary night blindness, type 1E	germline	17	38343117	CCGCAGGCAGATGGATATGTGGGGGACACGCAGCAGGTGAGGCTGTCTCCTCCTTTCCTGG
121908285	16276	NM_152419.2(HGSNAT):c.1030C>T (p.Arg344Cys)	HGSNAT	Oct 01, 2011	MedGen:C0086649,OMIM:252930,Orphanet:ORPHA79271,SNOMED CT:75238000	Mucopolysaccharidosis, MPS-III-C	germline	8	43182162	GTGTCTTTTGCAGTGTCTTGGGACAAGGTGCGCATTCCTGGTGTGCTGCAGCGATTGGGAG
121908953	21704	NM_001130978.1(DYSF):c.1813C>T (p.Gln605Ter)	DYSF	Aug 17, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71553071	TTTGCGGCCTTCTACTCAGCCACCATGCTGCAGGATGTGGATGATGCCATCCAGTTTGAGG
886041719	264298	NM_001080508.2(TBX18):c.1285C>T (p.Arg429Ter)	TBX18	May 05, 2016	MedGen:CN517202	not provided	germline	6	84737224	GCCTGTGCCCGCTCAGGCCTCACCCTCAACCGATACAGCACATCTTTGGCAGAGACCTACA
879253931	244793	NM_000834.3(GRIN2B):c.2539C>T (p.Arg847Ter)	GRIN2B	Jun 02, 2017	MedGen:CN517202	not provided	germline	12	13567084	ATCTGCGAACACCTTTTCTATTGGCAGTTCCGACATTGCTTTATGGGTGTCTGTTCTGGCA
876657389	188152	NM_004974.3(KCNA2):c.1214C>T (p.Pro405Leu)	KCNA2	Jun 12, 2017	MedGen:C4225350,OMIM:616366;MedGen:CN517202	Epileptic encephalopathy, early infantile, 32;not provided	germline	1	110603569	CGATTGCAGGTGTGTTAACTATTGCCTTACCGGTCCCTGTCATTGTGTCCAATTTCAACTA
28942088	18608	NM_016169.3(SUFU):c.44C>T (p.Pro15Leu)	SUFU	Jul 01, 2002	Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616	Medulloblastoma	somatic	10	102504196	GGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCCGGC
387906963	39602	NM_024513.3(FYCO1):c.1045C>T (p.Gln349Ter)	FYCO1	Jun 10, 2011	MedGen:C1864908,OMIM:610019	Cataract, autosomal recessive congenital 2	germline	3	45968289	CGGCTGGAGTCCATGCTGCAGCCCTTGGCACAGGAGCTTGAGGCCACACGGGACTCACTGG
121908014	18793	NM_000375.2(UROS):c.683C>T (p.Thr228Met)	UROS	Feb 01, 1992	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125788983	CTTTATAGTTTGCAGCCATCGGCCCCACTACGGCTCGCGCGCTGGCCGCCCAGGGCCTTCC
746930990	214744	NM_001324236.1(ITPA):c.195C>T (p.Ile65=)	ITPA	Oct 01, 2015	MedGen:C4225256,OMIM:616647,Orphanet:ORPHA457375	Epileptic encephalopathy, early infantile, 35	germline	20	3223409	CCTAAGGCGGAGAAGAACGCTGTCTCCCATCGCTTCCGGGCCCTGCTGGAGCTGCAGGAGT
137852493	25097	NM_000194.2(HPRT1):c.527C>T (p.Pro176Leu)	HPRT1	Jul 01, 1989	MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	Lesch-Nyhan syndrome	germline	X	134498431	AAAGGACCCCACGAAGTGTTGGATATAAGCCAGACTGTAAGTGAATTACTTTTTTTGTCAA
369152939	65658	NM_001349.3(DARS):c.821C>T (p.Ala274Val)	DARS	May 02, 2013	MedGen:C3809008,OMIM:615281,Orphanet:ORPHA363412	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	germline	2	135920591	TTTCTTTTATTAACTTCACAGTATTCAGAGCGGAAGACTCTAATACCCATAGACATCTAAC
397508702	68593	NM_000492.3(CFTR):c.4234C>T (p.Gln1412Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117665556	CACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTGAGTCTTTATAACTTTACTT
727504417	176327	NM_001399.4(EDA):c.766C>T (p.Gln256Ter)	EDA	Sep 20, 2013	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468	Hypohidrotic ectodermal dysplasia	germline	X	70030493	TGCCAGCCAGCTGTGGTGCATCTACAGGGCCAAGGGTCAGCAATTCAAGTCAAGAATGGTA
199606180	52465	NM_000260.3(MYO7A):c.5660C>T (p.Pro1887Leu)	MYO7A	Aug 15, 2014	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77206120	TTTTCAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGAGGCCATCCAGCA
267606824	16131	NM_017791.2(FLVCR2):c.977C>T (p.Ala326Val)	FLVCR2	Aug 01, 2010	MedGen:C1856972,OMIM:225790,Orphanet:ORPHA221126	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	germline	14	75633653	CTTCAGGTCTGAATGCTGGTGCTTTTTATGCCTTGTCCACTCTTCTGAATCGCATGGTGAT
794727631	194347	NM_001142800.1(EYS):c.490C>T (p.Arg164Ter)	EYS	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C1864446,OMIM:602772	Retinitis pigmentosa;Retinitis pigmentosa 25	germline;unknown	6	65494921	AGTGGTCCATCACCTTGTCCACTGGGACTTCGACTAAATGTGACAGTGAAACAGCAGTTCT
387907302	45842	NM_133497.3(KCNV2):c.226C>T (p.Gln76Ter)	KCNV2	Feb 01, 2008	MedGen:C1835897,OMIM:610356,Orphanet:ORPHA209932	Retinal cone dystrophy 3B	germline	9	2717965	CAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGC
72549401	21628	NM_003742.2(ABCB11):c.1723C>T (p.Arg575Ter)	ABCB11	Nov 01, 1998	MedGen:C1866138,OMIM:601847	Progressive familial intrahepatic cholestasis 2	germline	2	168970131	CAAAGGGTAGCTATCGCCAGAGCCCTCATCCGAAATCCCAAGATTCTGCTTTTGGACATGG
387906966	39607	NM_024513.3(FYCO1):c.1546C>T (p.Gln516Ter)	FYCO1	Jun 10, 2011	MedGen:C1864908,OMIM:610019	Cataract, autosomal recessive congenital 2	germline	3	45967788	CAGGAGGTCAGGTCTCTGACCCGGCAGCTGCAGTTCCTGGAGACCCAGCTGGCACAGGTGA
431825319	372717	NM_000059.3(BRCA2):c.4354C>T (p.Gln1452Ter)	BRCA2	May 13, 2015	MedGen:CN517202	not provided	germline	13	32338709	TCATTTAATAAAATTGTAAATTTCTTTGATCAGAAACCAGAAGAATTGCATAACTTTTCCT
762667660	410546	NM_173483.3(CYP4F22):c.976C>T (p.Arg326Ter)	CYP4F22	Mar 15, 2017	MedGen:CN517202	not provided	germline	19	15544007	GATGGAAAGGAACTGTCAGACGAGGATATCCGAGCCGAAGCAGACACCTTCATGTTTGAGG
121965088	15298	NM_004628.4(XPC):c.1735C>T (p.Arg579Ter)	XPC	Aug 01, 2001	MedGen:C2752147,OMIM:278720,SNOMED CT:25784009	Xeroderma pigmentosum, group C	germline	3	14158148	GTGGTGGGCATTGACAGTGACGGCTGGGTCCGAGATGTCACACAGAGGTACGACCCAGTCT
869312905	226719	NM_002296.3(LBR):c.226C>T (p.Arg76Ter)	LBR	-	MedGen:CN235880	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	germline	1	225422217	GGCTCAACTTCCAGTTCCCCTTCCAGACGCCGAGGGAGTCGATCAAGGTCACGCTCCCGAT
730881336	180391	NM_000051.3(ATM):c.742C>T (p.Arg248Ter)	ATM	May 31, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Ataxia-telangiectasia syndrome;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108244867	ATCTTCCTCAAGACTTTGGCTGTCAACTTTCGAATTCGAGTGTGTGAATTAGGAGATGAAA
63751228	182750	NM_000535.6(PMS2):c.1411C>T (p.Gln471Ter)	PMS2	Nov 26, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	5987354	GCCATCTCTGACAAAGGCGTCCTGAGACCTCAGAAAGAGGCAGTGAGTTCCAGTCACGGAC
1131691073	420826	NM_001042492.2(NF1):c.6970C>T (p.Gln2324Ter)	NF1	May 27, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31340553	GCCCTCTTTTGGGTAGCTGTGGCTGTGCTGCAGCTTGATGAGGTCAACTTGTATTCAGCAG
758555274	373303	NM_003482.3(KMT2D):c.2317C>T (p.Gln773Ter)	KMT2D	Dec 15, 2016	MedGen:CN517202	not provided	germline	12	49051366	CCGCAGGCTGAGGAGCCACACCTGTCCCCCCAGCCTGAGGAGCCATGCCTATGCGCTGTGC
74315324	17405	NM_213653.3(HJV):c.976C>T (p.Arg326Ter)	HJV	Jan 01, 2004	MedGen:C1865614,OMIM:602390	Hemochromatosis type 2A	germline	1	146018382	CTCTGTGTTGGGGGGTGCCCTCCAAGTCAGCGACTCTCTCGATCAGAGCGCAATCGTCGGG
794727549	193853	NM_003482.3(KMT2D):c.7903C>T (p.Arg2635Ter)	KMT2D	Oct 01, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49039867	CTCCCCTACCTGTCCCATGGAGCCTCACAGCGATCAGGCATCACCTCTCCTGTCGAAAAGC
121908447	20484	NM_000553.4(WRN):c.3493C>T (p.Gln1165Ter)	WRN	Apr 12, 1996	MedGen:C0043119,OMIM:277700,Orphanet:ORPHA902,SNOMED CT:51626007	Werner syndrome	germline	8	31147397	GTGTTATATGGCAAATTGGTAGAAGCTAGGCAGAAACATGCCAATAAAATGGATGTTCCCC
886041862	263945	NM_024408.3(NOTCH2):c.6787C>T (p.Gln2263Ter)	NOTCH2	Jul 14, 2016	MedGen:CN517202	not provided	germline	1	119915935	TGGATGAACCGCATGGAGGTGAATGAGACCCAGTACAATGAGATGTTTGGTATGGTCCTGG
113309941	17157	NM_003477.2(PDHX):c.742C>T (p.Gln248Ter)	PDHX	Feb 01, 2007	MedGen:C1855553,OMIM:245349,Orphanet:ORPHA255182	Pyruvate dehydrogenase E3-binding protein deficiency	germline	11	34966740	ACAGCCACTCCCACAGCACCTTCGCCCCTACAGGCCACAGCTGGACCATCTTATCCCCGGC
80358221	27231	NM_001166120.1(HSD3B2):c.776C>T (p.Thr259Met)	HSD3B2	Apr 01, 2000	MedGen:C0342471,OMIM:201810,SNOMED CT:54470008	3 beta-Hydroxysteroid dehydrogenase deficiency	germline	1	119422277	GAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTA
104894750	25878	NM_000054.4(AVPR2):c.607C>T (p.Arg203Cys)	AVPR2	Oct 01, 1992	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153906113	TGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGG
137853289	17901	NM_173076.2(ABCA12):c.6610C>T (p.Arg2204Ter)	ABCA12	Nov 17, 2016	MedGen:C0239849,OMIM:242500;MedGen:CN517202	Autosomal recessive congenital ichthyosis 4B;not provided	germline	2	214953891	GTTTCTCAGGGCACCATGTTTTTTTCCTTGCGACTCTTAATCAACGAATCCCTGATAAAGA
-1	463612	NM_000059.3(BRCA2):c.9895C>T (p.Gln3299Ter)	BRCA2	Apr 03, 2017	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	13	32398408	TTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACG
397518483	94343	NM_000965.4(RARB):c.1159C>T (p.Arg387Cys)	RARB	Feb 27, 2017	MedGen:C3809803,OMIM:615524;MedGen:CN517202	Microphthalmia, syndromic 12;not provided	germline	3	25596428	TTCCATTATCTCTTTTGAAAAGGTGCAGAGCGTGTAATTACCTTGAAAATGGAAATTCCTG
-1	441006	NM_182961.3(SYNE1):c.4939C>T (p.Gln1647Ter)	SYNE1	Nov 09, 2016	MedGen:CN517202	not provided	germline	6	152428242	GAGGACATCCTAAGGAGGGCGAAGGAGAGACAGACGGCGCTGGAGAATCTGCTGGCCCACT
397514664	48771	NM_002335.3(LRP5):c.1145C>T (p.Pro382Leu)	LRP5	Jan 01, 2010	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68386445	TCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGA
730880441	179864	NM_000169.2(GLA):c.1085C>T (p.Pro362Leu)	GLA	Oct 19, 2011	MedGen:CN517202	not provided	germline	X	101398014	CTATGATAAACCGGCAGGAGATTGGTGGACCTCGCTCTTATACCATCGCAGTTGCTTCCCT
62638197	20883	NM_000843.3(GRM6):c.137C>T (p.Pro46Leu)	GRM6	May 15, 2017	Human Phenotype Ontology:HP:0007642,MedGen:C0339535,Orphanet:ORPHA215,SNOMED CT:232061009;MedGen:C1850362,OMIM:257270;MedGen:CN517202	Congenital stationary night blindness;Congenital stationary night blindness, type 1B;not provided	germline;unknown	5	178994808	CGGGCGGCCTGACGCTGGGCGGCCTGTTCCCGGTGCACGCGCGGGGCGCGGCGGGCCGGGC
587784382	170182	NM_006517.4(SLC16A2):c.916C>T (p.Gln306Ter)	SLC16A2	Feb 08, 2013	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	germline	X	74524699	GTCCGCACCCTGCACCAGCGCTTTCTGGCTCAGCTCAGGAAGTACTTCAACATGCGAGTGT
80338770	15894	NM_080669.5(SLC46A1):c.337C>T (p.Arg113Cys)	SLC46A1	Dec 08, 2011	MedGen:C0342705,OMIM:229050,Orphanet:ORPHA90045,SNOMED CT:62578003;MedGen:CN517202	Congenital defect of folate absorption;not provided	germline	17	28405360	CTGCTGGGAGCTTGGAGCGACAGTGTGGGCCGCCGCCCGCTGCTAGTGCTGGCCTCGCTGG
587783771	170042	NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter)	MTM1	Jul 10, 2015	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150659664	AAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCG
80338796	28996	NM_002880.3(RAF1):c.770C>T (p.Ser257Leu)	RAF1	Nov 15, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;MedGen:C4014656,OMIM:615916;MeSH:D015179,MedGen:CN236642;MedGen:C1969056,OMIM:611554;MedGen:C1969056,OMIM:611554;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1969057,OMIM:611553;MedGen:C1969057,OMIM:611553;MedGen:C0175704,Orphanet:ORPHA500;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Adenocarcinoma of lung;Adenocarcinoma of stomach;Cardiomyopathy, dilated, 1NN;Colorectal Neoplasms;LEOPARD syndrome 2;LEOPARD syndrome 2;Malignant melanoma of skin;Noonan syndrome;Noonan syndrome 5;Noonan syndrome 5;Noonan syndrome with multiple lentigines;Rasopathy;not provided	de novo;germline;somatic;unknown	3	12604200	CTGAAGGTTCCCTCTCCCAGAGGCAGAGGTCGACATCCACACCTAATGTCCACATGGTCAG
121909507	33409	NM_000751.2(CHRND):c.1390C>T (p.Arg464Ter)	CHRND	Feb 01, 2008	MedGen:C1854678,OMIM:253290,Orphanet:ORPHA33108,SNOMED CT:60192008	Lethal multiple pterygium syndrome	germline	2	232535148	CCCTACCCACAGGAGAAAGACAGCTGGAACCGAGTGGCCCGCACAGTGGACCGCCTCTGCC
764698870	411514	NM_005476.5(GNE):c.1571C>T (p.Ala524Val)	GNE	Mar 01, 2017	MedGen:C1853926,OMIM:605820	Nonaka myopathy	germline	9	36222839	TAGACAATGATGGCAACTGTGCTGCCCTGGCGGAAAGGAAATTTGGCCAAGGAAAGGGACT
1057517857	360049	NM_000260.3(MYO7A):c.3724C>T (p.Gln1242Ter)	MYO7A	Jan 25, 2016	MedGen:CN517202	not provided	germline	11	77190113	AGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTC
199689137	39442	NM_022436.2(ABCG5):c.1336C>T (p.Arg446Ter)	ABCG5	Jun 14, 2016	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43822924	ACCTGCCTTCCATCCCCAGTTCCCGTGCTGCGAGCTGTCAGCGACCAGGAGAGTCAGGACG
786202584	483785	NM_000038.5(APC):c.154C>T (p.Gln52Ter)	APC	Jun 19, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112766344	TCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGTATTGAAGATGAAGCTATGGCTT
-1	487839	NM_000263.3(NAGLU):c.1597C>T (p.Arg533Ter)	NAGLU	Dec 23, 2016	MedGen:C0026706,SNOMED CT:88393000	Sanfilippo syndrome	germline	17	42543603	CTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCGGCTGC
113994130	34067	NM_000642.2(AGL):c.2590C>T (p.Arg864Ter)	AGL	Jun 13, 2014	MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease type III	germline	1	99884612	CCACATGCACAAGTCGCTGTTGGAATTCTTCGAAATCATCTGACACAATTCAGTCCTCACT
121918572	28200	NM_000448.2(RAG1):c.2326C>T (p.Arg776Trp)	RAG1	Feb 01, 2009	MedGen:C1867362	Severe combined immunodeficiency, B cell-negative	germline	11	36575630	AACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAAC
886039864	260739	NM_003611.2(OFD1):c.1612C>T (p.Gln538*)	OFD1	Aug 04, 2016	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	germline	X	13758406	TACAAAGCTTCTGTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGC
773246271	447471	NM_022089.3(ATP13A2):c.1903C>T (p.Gln635Ter)	ATP13A2	Dec 05, 2016	MedGen:C1847640,OMIM:606693,Orphanet:ORPHA306674	Parkinson disease 9	germline	1	16992345	CTCCACCGCTTCCCCTTCTCTTCGGCTCTGCAGCGCATGAGTGTGGTGGTGGCGTGGCCAG
137852839	17728	NM_015404.3(WHRN):c.2332C>T (p.Arg778Ter)	WHRN	Aug 01, 2003	MedGen:C1846839,OMIM:607084	Deafness, autosomal recessive 31	germline	9	114403982	GCTGGCGAGGCAGAGGCCAGCGCCCCAGGCCGAGGAAGGCAGTCGGTGTCCACCAAGAGCA
777593389	353898	NM_017890.4(VPS13B):c.2158C>T (p.Gln720Ter)	VPS13B	Aug 21, 2015	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	maternal	8	99156693	CAGTTGGTGCATGTGGTCAGCAGCCTTACTCAACCTTCTGATAACCTGCTTCATTATTGTT
760462252	226606	NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu)	COL4A3	Mar 18, 2016	MedGen:C1567743,OMIM:104200,Orphanet:ORPHA88918	Alport syndrome, autosomal dominant	inherited	2	227307839	ACAGTCAAACCACAGCAATTCCTTCATGTCCAGAGGGGACAGTGCCACTCTACAGTGGGTT
121908683	21238	NM_003560.3(PLA2G6):c.1894C>T (p.Arg632Trp)	PLA2G6	Jul 01, 2006	MedGen:C2750220	Karak syndrome	germline	22	38115667	CCTTCCCCGCCCCTAGACCAGCTGGTGTGGCGGGCGGCCCGAAGCAGCGGGGCAGCTCCTA
-1	470963	NM_006494.3(ERF):c.619C>T (p.Arg207Ter)	ERF	Jun 09, 2017	MedGen:CN029978,OMIM:123100	Craniosynostosis 1	germline	19	42249493	GAGGAACCGCTGGGAGAGGATCCCCGCGCCCGACCACCCGGCCCTCCGGATCTGGGTGCCT
74315290	27788	NM_198053.2(CD247):c.208C>T (p.Gln70Ter)	CD247	May 04, 2006	MedGen:C1857798,OMIM:610163	Immunodeficiency due to defect in cd3-zeta	unknown	1	167439355	GACGCCCCCGCGTACCAGCAGGGCCAGAACCAGCTCTATAACGTAAGTCAGCCTCGCCGTA
104886457	27086	NM_000136.2(FANCC):c.1642C>T (p.Arg548Ter)	FANCC	Nov 06, 2017	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002;MedGen:C3468041,OMIM:227645;MedGen:C3468041,OMIM:227645;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861028,OMIM:189960;MedGen:CN517202	Fanconi anemia;Fanconi anemia, complementation group C;Fanconi anemia, complementation group C;Hereditary cancer-predisposing syndrome;Tracheoesophageal fistula;not provided	germline;unknown	9	95101742	ATTGAAAGCCCTAGATCAGAAAAACTGGCCCGAGAGCTCCTTAAAGAGCTGCGAACTCAAG
587781392	150666	NM_000038.5(APC):c.637C>T (p.Arg213Ter)	APC	Sep 01, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112780895	CAACTAGGTACCTGCCAGGATATGGAAAAACGAGCACAGGTAAGTTACTTGTTTCTAAGTG
398124503	102339	NM_138694.3(PKHD1):c.982C>T (p.Arg328Ter)	PKHD1	Jan 06, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	52062655	TTTATGCGATCTACATGTCTTACAGGCAATCGAGGGCTTCTTTTTGAAGTTGGAGATGCTG
776065839	405439	NM_001256850.1(TTN):c.82117C>T (p.Arg27373Ter)	TTN	Feb 09, 2017	MedGen:CN517202	not provided	germline	2	178558419	GGTCTGAGAGAGAATTCTGAATACTTTTTCCGAGTGTTTGCTGAAAATCAAGCTGGCCTGA
727504107	177036	NM_015629.3(PRPF31):c.1273C>T (p.Gln425Ter)	PRPF31	Oct 08, 2015	MedGen:C1838601,OMIM:600138	Retinitis pigmentosa 11	germline	19	54129183	GCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGG
104894666	23663	NM_000479.4(AMH):c.571C>T (p.Arg191Ter)	AMH	Dec 01, 1992	MedGen:C3897939	Persistent mullerian duct syndrome, type I	germline	19	2250667	CCCTGGTCTCCGCAGAGCCTCTGCCCCTCCCGAGACACCCGCTACCTGGTGTTAGCGGTGG
1057517704	359767	NM_020732.3(ARID1B):c.2776C>T (p.Gln926Ter)	ARID1B	Nov 25, 2016	MedGen:CN517202	not provided	germline	6	157148848	ATGACCCCCAGTTCTCCTGGCATGTCTCAGCAGGGAGGGCCAGGAATGGGGCCGCCAATGC
28931603	15498	NM_000097.5(CPOX):c.1339C>T (p.Arg447Cys)	CPOX	May 01, 2016	MedGen:C0342856,SNOMED CT:190915002;MedGen:C0162531,OMIM:121300,Orphanet:ORPHA79273,SNOMED CT:7425008	Coproporphyria;Hereditary coproporphyria	germline	3	98580709	TCCAAAGAAGCTGAAATTCTGGAAGTTCTACGCCATCCAAGGGACTGGGTGCGTTGATGCA
-1	482003	NM_030813.5(CLPB):c.919C>T (p.Arg307Ter)	CLPB	Aug 30, 2017	MedGen:CN517202	not provided	germline	11	72329751	GAAATGGGACACACACCCTTGGATTATGCCCGAGAAGGGGAAGTGATGAAGCTTCTGAGGA
80357133	70034	NM_007294.3(BRCA1):c.505C>T (p.Gln169Ter)	BRCA1	Feb 06, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43099817	CTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCT
1131690945	420725	NM_000455.4(STK11):c.913C>T (p.Gln305Ter)	STK11	Mar 31, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	1221999	GCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTG
764552042	428466	NM_000521.3(HEXB):c.1597C>T (p.Arg533Cys)	HEXB	Apr 19, 2016	MedGen:C0036161,OMIM:268800,Orphanet:ORPHA796,SNOMED CT:23849003	Sandhoff disease	germline	5	74720731	GATGACGCCTATGACAGACTGACAAGGCACCGCTGCAGGATGGTCGAGTAAGAAATCTATT
545986367	171263	NM_000100.3(CSTB):c.136C>T (p.Gln46Ter)	CSTB	Apr 13, 2016	MedGen:C0751785,OMIM:254800,Orphanet:ORPHA308,SNOMED CT:230423006;MedGen:CN517202	Unverricht-Lundborg syndrome;not provided	germline	21	43774690	CCTGTGTTTAAGGCCGTGTCATTCAAGAGCCAGGTGGTCGCGGGGACAAACTACTTCATCA
532768944	191704	NM_001127897.3(RPGRIP1L):c.2030C>T (p.Thr677Ile)	RPGRIP1L	Aug 12, 2014	MedGen:C1969053,OMIM:611560;MedGen:C1969052,OMIM:611561	Joubert syndrome 7;Meckel syndrome type 5	germline	16	53652657	ACTTATTTTTGCAATATATTCAGAAGAATACTATCACCCTTGAGGTCCACCAGGCTTATAG
29001571	22518	NM_001540.4(HSPB1):c.379C>T (p.Arg127Trp)	HSPB1	Apr 07, 2017	MedGen:C1847823,OMIM:606595,Orphanet:ORPHA99940;MedGen:C2608087,OMIM:608634;MedGen:CN517202	Charcot-Marie-Tooth disease type 2F;Distal hereditary motor neuronopathy type 2B;not provided	germline	7	76303816	CCTCTTCCCCCCAAAGGCAAGCACGAGGAGCGGCAGGACGAGCATGGCTACATCTCCCGGT
28937573	22132	NM_001040667.2(HSF4):c.355C>T (p.Arg119Cys)	HSF4	Jul 01, 2002	Human Phenotype Ontology:HP:0007971,MedGen:C0266537,OMIM:116800	Lamellar cataract	germline	16	67165841	GGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGC
-1	427482	NM_001009944.2(PKD1):c.6199C>T (p.Gln2067Ter)	PKD1	Apr 27, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	16	2108968	GTTCAGGACGCCGTCCAGTATGTGGCCCTGCAGAGCGGCCCCTGCTTCACCAACCGCTCGG
-1	485941	NM_000280.4(PAX6):c.820C>T (p.Gln274Ter)	PAX6	Aug 02, 2017	MedGen:C0344542,OMIM:106210	Aniridia 1	unknown	11	31793748	AAATGGAGAAGAGAAGAAAAACTGAGGAATCAGAGAAGACAGGCCAGCAACACACCTAGTC
128626245	26293	NM_004006.2(DMD):c.3121C>T (p.Gln1041Ter)	DMD	Feb 15, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32468539	AAGCTCTCCTCCCAGCTGGTTGAGCATTGTCAAAAGCTAGAGGAGCAAATGAATAAACTCC
587777273	131977	NM_020949.2(SLC7A14):c.395C>T (p.Ala132Val)	SLC7A14	Mar 27, 2014	MedGen:C3810380,OMIM:615725	Retinitis pigmentosa 68	germline	3	170501255	ACAGCTATGTCACTGTTGGGGAATTTGTGGCATTTTTCATTGGCTGGAACCTGATCCTGGA
760815829	241643	NM_000059.3(BRCA2):c.1189C>T (p.Gln397Ter)	BRCA2	Nov 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome	germline	13	32332667	GTTGTACCGTCTTTGGCCTGTGAATGGTCTCAACTAACCCTTTCAGGTCTAAATGGAGCCC
587783753	169961	NM_000252.2(MTM1):c.109C>T (p.Arg37Ter)	MTM1	Nov 02, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001;MedGen:CN517202	Severe X-linked myotubular myopathy;not provided	germline	X	150596543	GTCAATCGAGATCTCACTGAGGCTGTTCCTCGACTTCCAGGAGAAACACTAATCACTGGTA
876661408	236877	NM_033312.2(CDC14A):c.1126C>T (p.Arg376Ter)	CDC14A	Jun 02, 2016	MedGen:C4310777,OMIM:616958	Deafness, autosomal recessive 105	germline	1	100484440	GGAAATCTTTCAAAAACACAAAACATGGAACGATTTGGAGAGGTAAGTTTTCCCTAGGAGA
724159945	171930	NM_001987.4(ETV6):c.1195C>T (p.Arg399Cys)	ETV6	Feb 06, 2015	Human Phenotype Ontology:HP:0004377,MeSH:D019337,MedGen:C0376545,SNOMED CT:129154003;MedGen:CN130080;MedGen:C4015537,OMIM:616216	Hematologic neoplasm;Thrombocytopenia;Thrombocytopenia 5	germline	12	11885968	ATGACCTATGAGAAAATGTCCAGAGCCCTGCGCCACTACTACAAACTAAACATTATCAGGA
199474721	40534	NM_006757.3(TNNT3):c.187C>T (p.Arg63Cys)	TNNT3	Jul 01, 2015	MedGen:CN233042;MedGen:CN517202	Arthyrgryposis, distal, type 2B;not provided	germline	11	1933736	TGCCCCTGCCCACAGGACATCCAGAAGAAGCGTCAGAACAAAGACCTAATGGAGCTCCAGG
756868374	468818	NM_023036.5(DNAI2):c.1414C>T (p.Gln472Ter)	DNAI2	Apr 04, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	74310083	GACAATGGGTGTCTCATCGCCTGCGGCTCCCAGCTGGGGACAACCACCCTGCTGGAGGTCT
72558408	103159	NM_000531.5(OTC):c.604C>T (p.His202Tyr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403681	AGCTGGATCGGGGATGGGAACAATATCCTGCACTCCATCATGATGAGCGCAGCGAAATTCG
796053263	201132	NM_006516.2(SLC2A1):c.1198C>T (p.Arg400Cys)	SLC2A1	Jul 16, 2016	MedGen:C3149117;MedGen:CN517202	GLUT1 deficiency syndrome 1, autosomal recessive;not provided	germline	1	42927685	ATCGTGGCTGAACTCTTCAGCCAGGGTCCACGTCCAGCTGCCATTGCCGTTGCAGGCTTCT
751323441	440111	NM_052844.3(WDR34):c.1480C>T (p.Gln494Ter)	WDR34	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	9	128633875	CCTGTCTACTGTCTGGAGTTCAACAGCCAGCAGACTCAGCTCTTGGCTGCGGGCGATGCCC
62642575	105195	NM_000350.2(ABCA4):c.4610C>T (p.Thr1537Met)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94024978	ACAGGAACATCTCCGACTTCTTGGTAAAAACGTATCCTGCTCTTATAAGAAGCAGGTAAGA
121912702	33110	NM_000029.3(AGT):c.604C>T (p.Gln202Ter)	AGT	Feb 01, 2012	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001	Renal dysplasia	germline	1	230710247	GTGGCCCAGGGCAGGGCTGATAGCCAGGCCCAGCTGCTGCTGTCCACGGTGGTGGGCGTGT
587780021	133177	NM_000465.3(BARD1):c.1690C>T (p.Gln564Ter)	BARD1	Oct 06, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	2	214745842	CTCCTTTTATATTAACAGATGAACACTGGGCAGCGTAGGGATGGACCTCTTGTACTTATAG
104894601	16611	NM_000263.3(NAGLU):c.700C>T (p.Arg234Cys)	NAGLU	Mar 01, 2008	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	germline	17	42538691	TTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCAGTGCTGCCTG
368970223	269979	NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter)	ANO5	Jan 22, 2016	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549	Limb-girdle muscular dystrophy, type 2L	germline	11	22255403	ACCTTATTTTTGGAGTTTTGGAAACAACGACAAGCCAGACTGGAATATGAATGGGACCTGG
797045611	209173	NM_018486.2(HDAC8):c.229C>T (p.Gln77Ter)	HDAC8	Oct 24, 2014	MedGen:C3550903,OMIM:300882	Cornelia de Lange syndrome 5	germline	X	72568820	ATGGCCACCTTCCACACTGATGCTTATCTGCAGCATCTCCAGAAGGTCAGCCAAGAGGGCG
104894760	25892	NM_000054.4(AVPR2):c.310C>T (p.Arg104Cys)	AVPR2	Oct 02, 2015	Human Phenotype Ontology:HP:0009806,MedGen:C0162283,Orphanet:ORPHA223,SNOMED CT:111395007;MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus, X-linked	germline	X	153905816	CTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGG
886041739	264931	NM_001429.3(EP300):c.3472C>T (p.Gln1158Ter)	EP300	May 02, 2016	MedGen:CN517202	not provided	germline	22	41157379	GTCTTTGAACAAGAAATTGACCCAGTGATGCAAAGCCTTGGATACTGTTGTGGCAGAAAGG
886038199	249204	NM_133443.3(GPT2):c.815C>T (p.Pro272Leu)	GPT2	Sep 22, 2016	MedGen:C4225388,OMIM:616281,Orphanet:ORPHA477673	Mental retardation, autosomal recessive 49	germline	16	46909922	AGGTGCTCTGCATAATCAACCCTGGGAACCCCACAGGTCTGCACTTTACTTCCTCACCAGT
28938175	21650	NM_004086.2(COCH):c.151C>T (p.Pro51Ser)	COCH	Sep 20, 2017	MedGen:C1832425,OMIM:601369;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal dominant 9;Nonsyndromic hearing loss and deafness	germline	14	30877640	ATCAGGAAAGAGAAAGCAGATGTCCTCTGCCCAGGGGGCTGCCCTCTTGAGGAATTCTCTG
-1	472154	NM_021140.3(KDM6A):c.3016C>T (p.Gln1006Ter)	KDM6A	Feb 14, 2017	MedGen:C3275495,OMIM:300867	Kabuki syndrome 2	germline	X	45079223	CATATGGTAGAAGTGAGGACACAGTTGTTGCAGCCAGCAGATGAAAACTGGGATCCCACTG
61752092	172126	NM_153818.1(PEX10):c.790C>T (p.Arg264Ter)	PEX10	Jan 12, 2015	MedGen:C3553948,OMIM:614871	Peroxisome biogenesis disorder 6B	germline	1	2406766	CTGCAGCTGTACGGTTTCAGGCAGCGGCAGCGAGCCAGGAAGGAGTGGAGGCTGCACCGCG
387907138	40159	NM_001004334.3(GPR179):c.598C>T (p.Arg200Ter)	GPR179	Feb 10, 2012	MedGen:C3281215,OMIM:614565	Congenital stationary night blindness, type 1E	germline	17	38343192	GGGGACCTGGACACCCCTGCCCTGAAGAAGCGAGTGTTGACCAATGACCTAGGGAGCCTCG
587777021	75240	NM_002067.4(GNA11):c.178C>T (p.Arg60Cys)	GNA11	Jun 27, 2013	MedGen:C3809243,OMIM:615361	Hypocalcemia, autosomal dominant 2	germline	19	3110190	AGCGGGAAGAGCACGTTCATCAAGCAGATGCGCATCATCCACGGCGCCGGCTACTCGGAGG
121909495	26652	NM_005491.4(MAMLD1):c.2176C>T (p.Arg726Ter)	MAMLD1	Dec 01, 2006	MedGen:C2677879,OMIM:300758	Hypospadias 2, X-linked	germline	X	150503409	CCCGGCAGCTCCTTTGCTCATGAGCTGGCCCGAGTCACCTCCTCGTACAGCACCTCAGAGG
63750356	94856	NM_000179.2(MSH6):c.3436C>T (p.Gln1146Ter)	MSH6	May 27, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47803683	AATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAACTGATTCTTAAAGTTTTGTTATCA
112795301	33467	NM_032682.5(FOXP1):c.1573C>T (p.Arg525Ter)	FOXP1	Nov 12, 2010	MedGen:C3150923,OMIM:613670	Mental retardation with language impairment and with or without autistic features	de novo;germline	3	70972634	CATAATCTTAGTCTTCACAAGTGTTTTGTGCGAGTAGAAAACGTTAAAGGGGCAGTATGGA
121913675	28927	NM_001127500.2(MET):c.3572C>T (p.Thr1191Ile)	MET	Oct 07, 2013	MedGen:C0279606	Childhood hepatocellular carcinoma	somatic	7	116778953	GAGATCTTCGAAATTTCATTCGAAATGAGACTCATGTAAGTTGACTGCCAAGCTTACTAAC
72547571	16679	NM_000382.2(ALDH3A2):c.943C>T (p.Pro315Ser)	ALDH3A2	Oct 04, 2016	MedGen:C0037231,OMIM:270200,Orphanet:ORPHA816,SNOMED CT:111303009;MedGen:CN517202	Sjögren-Larsson syndrome;not provided	germline;unknown	17	19663335	ATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAA
74315456	18093	NM_000487.5(ARSA):c.293C>T (p.Ser98Phe)	ARSA	Dec 09, 2014	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C0751278,Orphanet:ORPHA309256	Metachromatic leukodystrophy;Metachromatic leukodystrophy, late infantile	germline;unknown	22	50627338	GCATGTACCCTGGCGTCCTGGTGCCCAGCTCCCGGGGGGGCCTGCCCCTGGAGGAGGTGAC
876658802	432575	NM_000038.5(APC):c.1333C>T (p.Gln445Ter)	APC	Feb 28, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	5	112821916	TATTTTTCAGTGCCAGCTCCTGTTGAACATCAGATCTGTCCTGCTGTGTGTGTTCTAATGA
730881762	419392	NM_000251.2(MSH2):c.2041C>T (p.Gln681Ter)	MSH2	Sep 22, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	2	47476402	AATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAA
267606847	17118	NM_020435.3(GJC2):c.143C>T (p.Ser48Leu)	GJC2	Apr 01, 2011	MedGen:C3150732,OMIM:613480	Lymphedema, hereditary, IC	germline	1	228157901	TGACGGCTGTGGGCGGCGAGGCCATCTACTCGGACGAGCAGGCCAAGTTCACTTGCAACAC
121918304	19848	NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter)	FBXO7	Jan 20, 2009	MedGen:C1850100,OMIM:260300,Orphanet:ORPHA171695	Parkinson disease 15	germline	22	32498453	CTTCCAGGACCTAACCCCATCTTGCCAGGGCGAGGCGGCCCCAATGACAGATTTCCCTTTA
886042691	267950	NM_004006.2(DMD):c.10279C>T (p.Gln3427Ter)	DMD	Oct 02, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31173588	TTTCTGCCTTATAGGCCTGCCTCGTCCCCTCAGCTTTCACACGATGATACTCATTCACGCA
863224462	212905	NM_000051.3(ATM):c.7240C>T (p.Gln2414Ter)	ATM	Mar 07, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108329171	TACATGAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAAGAGCCAAAGAGGAAG
774799167	359573	NM_014845.5(FIG4):c.2212C>T (p.Gln738Ter)	FIG4	Nov 03, 2016	MedGen:CN517202	not provided	germline	6	109791407	AACAAAAGCAATAGAGAAGAAGCTGTATTACAGCGGAAAACGGCAGCCAGCGCCCCGCCGC
28940290	17325	NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu)	SETX	Mar 01, 2004	MedGen:C1853761,OMIM:606002	Spinocerebellar ataxia autosomal recessive 1	germline	9	132281483	TCCTAGTAGGAGATCCTAAGCAGCTCCCTCCGACAGTCATCTCTATGGTAAGTTTTTTATG
778989252	236615	NM_007194.3(CHEK2):c.1315C>T (p.Gln439Ter)	CHEK2	Aug 04, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	22	28695187	GAGCATAGGACTCAAGTGTCACTGAAGGATCAGATCACCAGTGGAAAATACAACTTCATTC
189014161	178574	NM_000238.3(KCNH2):c.2230C>T (p.Arg744Ter)	KCNH2	May 12, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Long QT syndrome;Long QT syndrome 2;not provided	germline	7	150950336	CGCTCACTGCTGCAGCACTGCAAACCCTTCCGAGGGGCCACCAAGGGCTGCCTTCGGGCCC
1057520217	377038	NM_000022.3(ADA):c.7C>T (p.Gln3Ter)	ADA	Jan 24, 2017	MedGen:CN517202	not provided	germline	20	44651601	AGCGCCGGGGCGCACGAGGGCACCATGGCCCAGACGCCCGCCTTCGACAAGCCCAAAGTGA
121913409	32627	NM_001904.3(CTNNB1):c.134C>T (p.Ser45Phe)	CTNNB1	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;MeSH:D015179,MedGen:CN236642;MeSH:D004194,MedGen:C0012634;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:CN865585	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adrenocortical carcinoma;Colorectal Neoplasms;Disease;Hepatocellular carcinoma;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Transitional cell carcinoma of the bladder;Wilms Tumor	somatic	3	41224646	TCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGA
1801175	27037	NM_000151.3(G6PC):c.247C>T (p.Arg83Cys)	G6PC	Oct 06, 2017	MedGen:C2919796,OMIM:232200;MedGen:C0017920,SNOMED CT:7265005;MedGen:CN517202	Glycogen storage disease type 1A;Glycogen storage disease, type I;not provided	germline;unknown	17	42903947	CTGTTTTTCCATAGGATTCTCTTTGGACAGCGTCCATACTGGTGGGTTTTGGATACTGACT
202247807	46962	NM_014252.3(SLC25A15):c.823C>T (p.Arg275Ter)	SLC25A15	May 31, 2012	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	not provided	13	40809584	TTATATTCTGGACTGAAACCTACTATGATTCGAGCATTCCCTGCCAATGGAGCACTCTTTT
121913024	31827	NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp)	ERCC2	Apr 25, 2017	MedGen:C0220722,OMIM:214150,SNOMED CT:41283003;MedGen:C1853102,OMIM:610756;MedGen:C0268138,OMIM:278730,SNOMED CT:68637004	Cerebro-oculo-facio-skeletal syndrome;Cerebrooculofacioskeletal syndrome 2;Xeroderma pigmentosum, group D	germline	19	45352802	CTCCTCTGCCCACCAGTGCACCACTACGGGCGGGCCGTCATCATGTTTGGCGTCCCCTACG
727504283	175511	NM_000257.3(MYH7):c.596C>T (p.Ala199Val)	MYH7	Apr 29, 2015	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23431804	AGAGGGTCATCCAGTACTTTGCTGTTATTGCAGCCATTGGGGACCGCAGCAAGAAGGACCA
962135951	377826	NM_012213.2(MLYCD):c.946C>T (p.Gln316Ter)	MLYCD	Jun 01, 2015	MedGen:CN517202	not provided	germline	16	83912365	TTCCTCATAAAGCGAGTCGTCAAGGAGTTGCAGGTAAGCGACACGCAGGGAGCCCCGGTCA
375638381	455351	NM_000426.3(LAMA2):c.2836C>T (p.Gln946Ter)	LAMA2	Aug 01, 2017	MedGen:CN117977	Laminin alpha 2-related dystrophy	germline	6	129291700	CAGTGTGAGTGCAGAGCCAACGTTCAGGGTCAGAGATGTGACAAATGCAAGGTAAGGAGTA
122453119	26729	NM_004484.3(GPC3):c.361C>T (p.His121Tyr)	GPC3	Jan 09, 2012	MedGen:CN033288,OMIM:194070	Wilms tumor 1	somatic	X	133754153	TTTACAGAGGCCTTTGAAATTGTTGTTCGCCATGCCAAGAACTACACCAATGCCATGTTCA
267607145	20040	NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)	TRPV4	Apr 16, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C2079540,OMIM:606071;MedGen:C0027868,Orphanet:ORPHA68381;MedGen:C0751335,OMIM:181405,Orphanet:ORPHA431255,SNOMED CT:230248006;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 2C;Neuromuscular Diseases;Scapuloperoneal spinal muscular atrophy;not provided	germline	12	109798820	GAGAACCCCCACAAGAAGGCGGACATGCGGCGCCAGGACTCGCGAGGCAACACAGTGCTGC
797045379	209279	NM_000052.6(ATP7A):c.3502C>T (p.Gln1168Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78033812	TCAACTTCGTCTTCCATGATTATTGATGCCCAGATCTCAAGTAAGCTAATTTTCTTTGTAG
1085307242	414178	NM_001204.6(BMPR2):c.541C>T (p.Q181*)	BMPR2	Aug 31, 2015	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202514899	CTGTTTCCTGTTCTTATAGGAGACCGTAAACAAGGTCTTCACAGTATGAACATGATGGAGG
749588235	481208	NM_006567.4(FARS2):c.461C>T (p.Ala154Val)	FARS2	Jan 30, 2018	MedGen:C4310750,OMIM:617046,Orphanet:ORPHA466722	Spastic paraplegia 77, autosomal recessive	germline	6	5369031	ATTACCTGAATCGGACTCACATGCTGAGAGCGCACACGTCTGCACACCAGTGGGACTTGCT
77216276	486898	NM_001165963.2(SCN1A):c.5734C>T (p.Arg1912Ter)	SCN1A	Feb 03, 2016	MedGen:CN240682	Autosomal dominant epilepsy	germline	2	165991541	TCCTATCAGCCAATCACTACTACTTTAAAACGAAAACAAGAGGAAGTATCTGCTGTCATTA
138941496	259971	NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter)	ATM	Aug 16, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108332765	GTAATGTTTTTTGTTTTTTATTAATAGGATCGAACAGAGGCTGCAAATAGAATAATATGTA
886043410	270734	NM_001844.4(COL2A1):c.2353C>T (p.Arg785Ter)	COL2A1	Dec 07, 2017	MedGen:C2020284,OMIM:108300;MedGen:CN517202	Stickler syndrome type 1;not provided	germline	12	47982109	CCTGAGGGAGCCCCTGGAAAGGATGGTGGACGAGTAAGTGAATGCGGGCTGCTGGACTGCT
74315491	29863	NM_020070.3(IGLL1):c.64C>T (p.Gln22Ter)	IGLL1	Jan 05, 1998	MedGen:C3150750,OMIM:613500	Agammaglobulinemia 2, autosomal recessive	germline	22	23580127	GCCCCTGGTGAGCCAGGCCCCAACCTCAGGCAGCGCTGGCCCCTGCTGCTGCTGGGTCTGG
118203427	58245	NM_000368.4(TSC1):c.682C>T (p.Arg228Ter)	TSC1	May 18, 2017	MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994;MedGen:C0751674,OMIM:606690,Orphanet:ORPHA538,SNOMED CT:73017001;MedGen:C1854465,OMIM:191100;MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Focal cortical dysplasia type II;Lymphangiomyomatosis;Tuberous sclerosis 1;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	germline;unknown	9	132921418	CAACTCTTCTAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCA
267606943	15257	NM_000285.3(PEPD):c.605C>T (p.Ser202Phe)	PEPD	Apr 06, 2015	MedGen:C0268532,OMIM:170100	Prolidase deficiency	germline	19	33464006	TGGAGGTTCTGCGCTATACCAATAAAATCTCCAGCGAGGCCCACCGTGAGGTAAGTCAGGC
758478717	204587	NM_003995.3(NPR2):c.328C>T (p.Arg110Cys)	NPR2	Apr 01, 2014	MedGen:C4225399,OMIM:616255	Short stature with nonspecific skeletal abnormalities	germline	9	35792736	GGTTGCGTGTACCCTGCTGCCTCTGTGGCCCGCTTTGCCTCCCACTGGCGCCTTCCCCTGC
80356485	33913	NM_000151.3(G6PC):c.724C>T (p.Gln242Ter)	G6PC	Aug 25, 2016	MedGen:C2919796,OMIM:232200	Glycogen storage disease type 1A	germline;unknown	17	42911076	GTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCC
776327443	414933	NM_000404.3(GLB1):c.1646C>T (p.Pro549Leu)	GLB1	Apr 27, 2017	MedGen:CN517202	not provided	germline	3	33014144	GGGCCCACAACTCATCCAACTACACGCTCCCGGCCTTTTATATGGGGAACTTCTCCATTCC
121908642	21369	NM_000050.4(ASS1):c.910C>T (p.Arg304Trp)	ASS1	Sep 01, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130489404	CATTTAGACATCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAACAAGGCCTGG
104894209	22331	NM_001814.5(CTSC):c.856C>T (p.Gln286Ter)	CTSC	Dec 01, 1999	MedGen:C0030360,OMIM:245000,Orphanet:ORPHA678,SNOMED CT:40158001	Papillon-Lefèvre syndrome	germline	11	88296166	AACAATTCTCAGACCCCAATCCTAAGCCCTCAGGAGGTTGTGTCTTGTAGCCAGTATGCTC
-1	417112	NM_019098.4(CNGB3):c.1243C>T (p.Gln415Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	unknown	8	86632829	TTAATTACCATTGGTGGCCTTCCAGAACCACAAACTTTATTTGAAATTGTTTTTCAACTCT
121918620	27969	NM_000702.3(ATP1A2):c.1127C>T (p.Thr376Met)	ATP1A2	Jan 01, 2007	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160128761	GCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGT
281864781	49805	NM_212472.2(PRKAR1A):c.109C>T (p.Gln37Ter)	PRKAR1A	Sep 20, 2012	MedGen:C2607929,OMIM:160980	Carney complex, type 1	not provided	17	68515508	ATTCAAGCGCTGCTCAAAGATTCTATTGTGCAGTTGTGCACTGCTCGACCTGAGAGACCCA
121912670	33376	NM_005199.4(CHRNG):c.715C>T (p.Arg239Cys)	CHRNG	Aug 01, 2006	MedGen:C1854678,OMIM:253290,Orphanet:ORPHA33108,SNOMED CT:60192008;MedGen:C0265261,OMIM:265000,Orphanet:ORPHA294060	Lethal multiple pterygium syndrome;Multiple pterygium syndrome Escobar type	germline	2	232542992	CAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTCATCAACATCA
397509301	70314	NM_007294.3(BRCA1):c.616C>T (p.Gln206Ter)	BRCA1	Jan 12, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	43095900	CCCTATAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAA
137853095	22702	NM_032387.4(WNK4):c.3553C>T (p.Arg1185Cys)	WNK4	Feb 16, 2017	MedGen:C1840390,OMIM:614491,Orphanet:ORPHA88939	Pseudohypoaldosteronism type 2B	germline	17	42796244	ATTGTGGCCCCAGCTGCTATGCTGTCCAGCCGCCAGCGCCGCCTCTCCAAGGGCAGCTTCC
780139133	359611	NM_021942.5(TRAPPC11):c.2407C>T (p.Gln803Ter)	TRAPPC11	Nov 15, 2016	MedGen:CN517202	not provided	germline	4	183693937	ACTCTTTTAGGACAGGATGCCAATTTAACTCAGAAGACTCACGTGACTCTTCATGGAACAG
28940889	18607	NM_002225.3(IVD):c.941C>T (p.Ala314Val)	IVD	Jun 29, 2017	MedGen:C0268575,OMIM:243500,Orphanet:ORPHA33,SNOMED CT:87827003;MedGen:CN517202	Isovaleryl-CoA dehydrogenase deficiency;not provided	germline;unknown	15	40415454	ACACCATTCCCTACCTGCACGTGAGGGAAGCCTTTGGCCAGAAGATCGGCCACTTCCAGGT
118204029	16532	NM_001039141.2(TRIOBP):c.2362C>T (p.Arg788Ter)	TRIOBP	Jan 01, 2006	MedGen:C1853276,OMIM:609823	Deafness, autosomal recessive 28	germline	22	37724918	CCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGC
72547508	32556	NM_000781.2(CYP11A1):c.1057C>T (p.Arg353Trp)	CYP11A1	Aug 01, 2002	MedGen:C3151055,OMIM:613743,Orphanet:ORPHA168558	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete	germline	15	74339687	GCACGCAACCTGAAGGTGCAGGATATGCTGCGGGCAGAGGTCTTGGCTGCGCGGCACCAGG
267606832	31266	NM_004960.3(FUS):c.646C>T (p.Arg216Cys)	FUS	Aug 10, 2012	MedGen:C1842675,OMIM:608030;MedGen:C3539195,OMIM:614782	Amyotrophic lateral sclerosis type 6;Tremor, hereditary essential, 4	germline	16	31185061	GGTGGCTATGGACAGCAGGACCGTGGAGGCCGCGGCAGGGGTGGCAGTGGTGGCGGCGGCG
539703340	263633	NM_181789.3(GLDN):c.1240C>T (p.Arg414Ter)	GLDN	Nov 09, 2016	MedGen:C4310670,OMIM:617194	Lethal congenital contracture syndrome 11	germline	15	51404338	CTGAAGCTTGAAAATGCCTTGTATTTTGATCGAAAATACCTTTTTGCAAATTCCAAAACTT
1064793992	406097	NM_000388.3(CASR):c.577C>T (p.Gln193Ter)	CASR	Aug 17, 2015	MedGen:CN517202	not provided	germline	3	122261612	TTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCATCGAGT
120074158	17851	NM_025074.6(FRAS1):c.3799C>T (p.Gln1267Ter)	FRAS1	Jun 01, 2003	MedGen:C0265233,OMIM:219000,SNOMED CT:204102004	Cryptophthalmos syndrome	germline	4	78387525	ATCGATCCTCCACTTCATGGCCAATTGCTTCAGACACTTCAGTCCCCGGCAACCCCTATCT
118192226	34614	NM_172107.3(KCNQ2):c.1342C>T (p.Arg448Ter)	KCNQ2	Jul 19, 2017	MedGen:C1852587,OMIM:121200;MedGen:C0393706,Orphanet:ORPHA1934;MedGen:CN517202	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy;not provided	germline	20	63415086	AGTTTGAAAGATCGTGTCTTCTCCAGCCCCCGAGGCGTGGCTGCCAAGGGGAAGGGGTCCC
397514482	40317	NM_000933.3(PLCB4):c.1861C>T (p.Arg621Cys)	PLCB4	Mar 01, 2013	Gene:100381211,MedGen:C1865295,OMIM:602483;MedGen:C3553404,OMIM:614669	Auriculocondylar syndrome 1;Auriculocondylar syndrome 2	germline;inherited	20	9409079	AGTTACAGTTATAACAAACGGCAAATGAGTCGCATTTACCCCAAGGGAGGCCGAGTCGATT
80338696	34600	NM_138477.3(CDAN1):c.2140C>T (p.Arg714Trp)	CDAN1	Sep 01, 2011	MedGen:C0271933,OMIM:224120,Orphanet:ORPHA98869,SNOMED CT:59548005	Congenital dyserythropoietic anemia, type I	not provided	15	42730632	GACCATGTTGTTCCCTTGCTGGAATATTACCGGGACATCTTCACTCTCCTGCTGCGCCTGC
587784179	168252	NM_022455.4(NSD1):c.6070C>T (p.Gln2024Ter)	NSD1	Jun 15, 2017	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177283847	AACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTG
-1	481216	NM_017780.3(CHD7):c.3106C>T (p.Arg1036Ter)	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	de novo;germline	8	60822651	TCCACAATCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGT
1060499984	419804	NM_130799.2(MEN1):c.1177C>T (p.Gln393Ter)	MEN1	Dec 20, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	64805643	CTGGAGGCGGGCGAGGAGCGGCCGGGGGAGCAAAGCCAGGTGAAAGGCTGGAGCTCCAGCC
587783883	168338	NM_133433.3(NIPBL):c.1297C>T (p.Gln433Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36976204	CAAGAACAAACAGCATTCCTTCCAGCAAATCAAGTGCCTGTTTTACAACAGAACACTTCAG
80359825	196002	NM_006516.2(SLC2A1):c.997C>T (p.Arg333Trp)	SLC2A1	Nov 04, 2015	MedGen:C3553859,OMIM:614847;MedGen:CN030711,OMIM:606777;MedGen:C1847501,Orphanet:ORPHA71277	Epilepsy, idiopathic generalized, susceptibility to, 12;GLUT1 deficiency syndrome 1;Glucose transporter type 1 deficiency syndrome	germline	1	42929009	CCACAGCTGTTTGTGGTGGAGCGAGCAGGCCGGCGGACCCTGCACCTCATAGGCCTCGCTG
-1	481705	NM_001080517.2(SETD5):c.1852C>T (p.Arg618Ter)	SETD5	Jan 02, 2018	MedGen:CN517202	not provided	germline	3	9447755	GCAAAGCCTTCTAGGCCCCGGCCGAAGAGTCGAATTTCTCGGTACAGGACCAGTTCAGCCC
121912602	17385	NM_016341.3(PLCE1):c.3346C>T (p.Arg1116Ter)	PLCE1	Dec 01, 2006	MedGen:C1853124,OMIM:610725	Nephrotic syndrome, type 3	germline	10	94254256	ACCCGAAAGGCCAAGATGCACAAAGAGTGTCGAAGCCGGAGTGGTTCTGATCCTCAAGACA
104894857	25020	NM_001122606.1(LAMP2):c.520C>T (p.Gln174Ter)	LAMP2	Aug 01, 2004	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006	Danon disease	germline	X	120449006	GTTGTCCAACACTACTGGGATGTTCTTGTACAAGCTTTTGTCCAAAATGGCACAGTGAGCA
191710555	389248	NM_016239.3(MYO15A):c.1223C>T (p.Ala408Val)	MYO15A	Jun 04, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18120023	CCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCAT
121965004	26977	NM_000056.4(BCKDHB):c.616C>T (p.His206Tyr)	BCKDHB	Apr 23, 2004	MedGen:C4016442	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	germline	6	80169013	CATTCTCAGAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATCAAGGTATGTTCATTTA
121918154	15710	NM_000312.3(PROC):c.814C>T (p.Arg272Cys)	PROC	Jan 16, 1993	MedGen:C2674321,OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	germline	2	127428374	CTCTGCCCTGCAGGAGAGTATGACCTGCGGCGCTGGGAGAAGTGGGAGCTGGACCTGGACA
72556266	103099	NM_000531.5(OTC):c.455C>T (p.Ala152Val)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401343	TGTATAAACAATCAGATTTGGACACCCTGGCTAAAGAAGCATCCATCCCAATTATCAATGG
-1	478600	NM_002878.3(RAD51D):c.463C>T (p.Gln155Ter)	RAD51D	Oct 17, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	35107005	CGCCTCCTCCAGCTGCTTCAGGCTAAAACCCAGGATGAGGAGGAACAGGTAAGGGCAGGAT
137853052	22098	NM_001172435.1(RAB3GAP1):c.2011C>T (p.Arg671Ter)	RAB3GAP1	Jan 01, 2007	MedGen:C1838625,OMIM:600118	Warburg micro syndrome 1	germline	2	135150456	TTAGGTACATCGGCAGAGGGGGCTCACCTTCGAGCACGCATGCAGAGTGCCTGTCTGCTCT
879255269	227579	NM_012200.3(B3GAT3):c.419C>T (p.Pro140Leu)	B3GAT3	May 13, 2016	na	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS	germline	11	62617186	TCCTCTTCACACACCTGGTGGTCCTCACGCCCAAAGCCCAGCGGCTTCGGGAGGGCGAGCC
587782030	151527	NM_005591.3(MRE11):c.508C>T (p.Gln170Ter)	MRE11	Mar 14, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	94478771	GAGAAGATAGACATTAGTCCGGTTTTGCTTCAAAAAGGAAGCACAAAGATTGCGCTATATG
747480526	260145	NM_006086.3(TUBB3):c.533C>T (p.Thr178Met)	TUBB3	Nov 07, 2017	MedGen:C3279670,OMIM:614039;MedGen:CN517202	Cortical dysplasia, complex, with other brain malformations 1;not provided	germline	16	89934984	GCGTCGTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACGCTGTC
397514470	39195	NM_006225.3(PLCD1):c.1246C>T (p.Arg416Ter)	PLCD1	Jun 10, 2011	MedGen:C0544855,OMIM:151600,Orphanet:ORPHA2387	Leukonychia totalis	germline	3	38009945	CATGCCATCCTGGGCCCCATGCTGTTGAACCGACCACTGGATGGGGTCACCAACAGCCTGC
121913572	29335	NM_000426.3(LAMA2):c.7732C>T (p.Arg2578Ter)	LAMA2	Apr 05, 2013	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129481422	GGAGGGACACCAGCACCACCTAGGAGAAAACGAAGGCAGACTGGACAGGTACCCTCACACC
121434620	25834	NM_020717.3(SHROOM4):c.3266C>T (p.Ser1089Leu)	SHROOM4	Jan 01, 2006	MedGen:C1845530,OMIM:300434,Orphanet:ORPHA85288	Stocco dos Santos syndrome	germline	X	50607876	AGCTCTTTAGCAAAGGTGATGAGACCCAGTCGGATCTTCTCGGAGCCAGGAAGAAGGCCTT
587783370	167937	NM_003688.3(CASK):c.82C>T (p.Arg28Ter)	CASK	Feb 07, 2017	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937;MedGen:CN517202	Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided	germline	X	41853205	TTTTATAGGGGTCCCTTCAGTGTTGTACGACGATGTATCAACAGAGAAACTGGGCAACAAT
876659454	234244	NM_000051.3(ATM):c.6082C>T (p.Gln2028Ter)	ATM	Sep 21, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108315898	TTGTATGGCTGTGGTGGAGGGAAGATGTTACAACCCATTACTAGGTAAATTGCATTTTTCT
727503778	178381	NM_005641.3(TAF6):c.136C>T (p.Arg46Cys)	TAF6	Sep 22, 2016	MedGen:C4310702,OMIM:617126;MedGen:CN029798,OMIM:122470	Alazami-Yuan syndrome;Cornelia de Lange syndrome 1	biparental;germline	7	100114074	TGCCAGCTGCTAACGGATGAGGTCAGCTACCGCATCAAAGAGATCGCACAGGTGACCCGGC
121918697	27597	NM_001252634.1(THRB):c.1012C>T (p.Arg338Trp)	THRB	Jun 25, 2013	MedGen:C2937288,OMIM:188570;MedGen:C1840364,OMIM:145650,Orphanet:ORPHA165994	Thyroid hormone resistance, generalized, autosomal dominant;Thyroid hormone resistance, selective pituitary	germline;unknown	3	24127631	TTAACCTTGAATGGGGAAATGGCAGTGACACGGGGCCAGCTGAAAAATGGGGGTCTTGGGG
587783681	168927	NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter)	KMT2D	Dec 02, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49033442	CAGCACCTTCTAGGACAGGTGGCAATCCAGCAGCAACAGCAGCAGGGTCCTGGAGTACAGA
121908735	17009	NM_000022.3(ADA):c.466C>T (p.Arg156Cys)	ADA	Jan 01, 1992	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44625581	GTCAAGGCCCGGTCCATCCTGTGCTGCATGCGCCACCAGCCCAGTGAGTAGGATCACCGCC
886041989	264012	NM_014795.3(ZEB2):c.3046C>T (p.Arg1016Ter)	ZEB2	Oct 31, 2017	MedGen:CN517202	not provided	germline	2	144396433	AAGACATTCCAGAAAAGCAGTTCCCTTCTGCGACATAAATACGAACACACAGGTATGAGTG
759274321	389221	NM_000720.3(CACNA1D):c.1127C>T (p.Ala376Val)	CACNA1D	Jun 04, 2016	MedGen:C3554018,OMIM:614896,Orphanet:ORPHA324321	Sinoatrial node dysfunction and deafness	germline	3	53673723	GATCTCCTTACATTTTACAGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTATTT
121909363	23678	NM_000163.4(GHR):c.703C>T (p.Arg235Ter)	GHR	Aug 07, 2013	MedGen:C0271568,OMIM:262500,Orphanet:ORPHA633,SNOMED CT:38196001	Laron-type isolated somatotropin defect	germline	5	42711291	GAATATGAAGTGCGTGTGAGATCCAAACAACGAAACTCTGGAAATTATGGCGAGTTCAGTG
397508701	68592	NM_000492.3(CFTR):c.4231C>T (p.Gln1411Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117665553	GAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTGAGTCTTTATAACTTTA
869312831	226435	NM_014712.2(SETD1A):c.2209C>T (p.Gln737Ter)	SETD1A	Mar 14, 2016	Human Phenotype Ontology:HP:0100753,MedGen:C0036341,OMIM:181500,SNOMED CT:58214004	Schizophrenia	germline	16	30966090	GGCTTGCCGTATGCTCTATATGCACAGGGGCAGGAGGGCAGAGGGGCATACTCACGGGAGG
387907299	45817	NM_032806.5(POMGNT2):c.1333C>T (p.Arg445Ter)	POMGNT2	Sep 25, 2012	MedGen:C3553813,OMIM:614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	germline	3	43080099	CTCTGTTGCCGGAACCCCGAGTGGCTCTTCCGAATCTACCAGGACACCAAGGTGGACATCC
121434357	16983	NM_030957.3(ADAMTS10):c.709C>T (p.Arg237Ter)	ADAMTS10	Nov 01, 2004	MedGen:C1869114,OMIM:277600	Weill-Marchesani syndrome 1	germline	19	8601029	GGCCAGCCAGGCCTGAAGCGATCGGTCAGCCGAGAGCGCTACGTGGAGACCCTGGTGGTGG
121918223	16263	NM_006363.5(SEC23B):c.1588C>T (p.Arg530Trp)	SEC23B	Aug 01, 2009	MedGen:C1306589,OMIM:224100,Orphanet:ORPHA98873,SNOMED CT:68870007	Congenital dyserythropoietic anemia, type II	germline	20	18543095	GACCAGGAGGCTGCGGCAGTGTTGATGGCACGGCTTGGGGTGTTCCGAGCGGAGTCAGAGG
761848742	407566	NM_007171.3(POMT1):c.1858C>T (p.Arg620Ter)	POMT1	Aug 04, 2015	MedGen:CN517202	not provided	germline	9	131521439	TACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTC
369742878	177280	NM_002420.5(TRPM1):c.2998C>T (p.Arg1000Ter)	TRPM1	Feb 18, 2014	MedGen:C2750747,OMIM:613216	Congenital stationary night blindness, type 1C	germline	15	31031046	CCAGAGGAGAAGCCCTCTTGGAAACTGGCCCGAAACATCTTCTACATGCCCTACTGGATGA
-1	214855	NM_016218.3(POLK):c.1324C>T (p.Leu442Phe)	POLK	Jun 10, 2014	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75590408	TACAGCCTATGTCAAGAACTTTGCAGTGAGCTTGCTCAGGATCTACAGAAAGAAAGACTTA
762387914	357781	NM_000050.4(ASS1):c.814C>T (p.Arg272Cys)	ASS1	Dec 17, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline;unknown	9	130480425	GGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGT
28939712	21126	NM_003640.4(ELP1):c.2741C>T (p.Pro914Leu)	ELP1	May 01, 2003	MedGen:C0013364,OMIM:223900,Orphanet:ORPHA1764,SNOMED CT:29159009	Familial dysautonomia	germline	9	108894062	AAAGTTCTCATTAATCATTTTTTTAGGATCCCAAAGAATATCTTCCATTTCTTAATACACT
267607066	16360	NM_001174089.1(SLC4A11):c.2213C>T (p.Thr738Met)	SLC4A11	Jul 01, 2006	MedGen:C2750450,OMIM:613268	Corneal dystrophy, Fuchs endothelial, 4	germline	20	3228687	GCCACCGCAGGATTGTGAACGTGAAGGAGACGCGGCTGACCTCGCTGGGCGCCAGCGTCCT
121917873	15500	NM_000097.5(CPOX):c.982C>T (p.Arg328Cys)	CPOX	Jan 01, 2002	MedGen:C0342856,SNOMED CT:190915002	Coproporphyria	germline	3	98585631	AGGTGTGATGATTACTTCTTTATAGCCCATCGTGGAGAACGGCGGGGCATTGGTGGTATCT
1057521066	365287	NM_006516.2(SLC2A1):c.844C>T (p.Gln282Ter)	SLC2A1	Jan 19, 2017	MedGen:CN517202	not provided	germline	1	42929616	ATCCTCATCGCTGTGGTGCTGCAGCTGTCCCAGCAGCTGTCTGGCATCAACGCTGTGAGTG
104894690	19270	NM_024301.4(FKRP):c.400C>T (p.Arg134Trp)	FKRP	Dec 01, 2003	MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	germline	19	46755850	GAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCA
104894178	22619	NM_006214.3(PHYH):c.823C>T (p.Arg275Trp)	PHYH	Mar 15, 2016	MedGen:C2749345;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:CN517202	Refsum disease, adult, 1;Retinitis pigmentosa;not provided	germline;unknown	10	13283695	GGATCTGGTCAGAATAAAACCCAGGGATTCCGGAAGGTAAGCATTCACATTGCTGCACCTG
137852824	29080	NM_000439.4(PCSK1):c.920C>T (p.Ser307Leu)	PCSK1	Sep 01, 2007	MedGen:C1833053,OMIM:600955,Orphanet:ORPHA71528	Proprotein convertase 1/3 deficiency	germline	5	96410949	AGGGGAAGGGGTCCATCTTCGTCTGGGCTTCGGGAAACGGGGGGCGTCAGGGAGATAATTG
104894093	21663	NM_006412.3(AGPAT2):c.202C>T (p.Arg68Ter)	AGPAT2	Dec 08, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136677537	CTCCCCTGCAGCATCATCGGCTGGTTCGTGCGAAGCTTCAAGTACTTTTACGGGCTCCGCT
398123776	100195	NM_003494.3(DYSF):c.2869C>T (p.Gln957Ter)	DYSF	Jun 19, 2013	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71569878	CTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCT
756762196	242512	NM_016373.3(WWOX):c.790C>T (p.Arg264Ter)	WWOX	Sep 28, 2016	MedGen:C3463992,OMIM:308350;MedGen:C3280452,OMIM:614322,Orphanet:ORPHA284282;MedGen:CN517202	Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided	germline	16	78425054	CGTGTCATTGTGGTCTCCTCAGAGTCCCATCGGTGGGTTTGAATTGCATATTTGTTCACTT
796051995	199946	NM_015506.2(MMACHC):c.217C>T (p.Arg73Ter)	MMACHC	Aug 11, 2015	MedGen:CN517202	not provided	germline	1	45507491	CTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTG
771203308	214264	NM_024790.6(CSPP1):c.2260C>T (p.Arg754Ter)	CSPP1	Feb 23, 2015	MedGen:C3810212,OMIM:615636	Joubert syndrome 21	unknown	8	67158480	GAGGAAAAGAAACAAAGAGAGGAAGCAGAGCGAGAGAGACTGAGAATTGCAGAAGAAAAAG
397507662	66112	NM_000059.3(BRCA2):c.3283C>T (p.Gln1095Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32337638	CATATAACCCCTCAGATGTTATTTTCCAAGCAGGATTTTAATTCAAACCATAATTTAACAC
397514722	75088	NM_080605.3(B3GALT6):c.16C>T (p.Arg6Trp)	B3GALT6	Jun 06, 2013	MedGen:C3809210,OMIM:615349	Ehlers-Danlos syndrome, progeroid type, 2	germline	1	1232294	CCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCC
121918707	27606	NM_001252634.1(THRB):c.727C>T (p.Arg243Trp)	THRB	Sep 21, 2015	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24143512	AACGCCCAAGGCAGCCACTGGAAGCAAAAACGGAAATTCCTGGTAAGGCTTCCTTGCACAG
121434636	24095	NM_001698.2(AUH):c.589C>T (p.Arg197Ter)	AUH	Apr 01, 2003	MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046,SNOMED CT:237950009	3-Methylglutaconic aciduria	germline	9	91297993	GGTCTTGAACTGGCTTTAGCCTGTGATATACGAGTAGCAGGTAAGAATTAATCCTGTTAAA
113001196	51577	NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter)	FBN1	Jul 29, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48432947	TGTGCCCAGAATCCTCTGCTCTGTGCCTTCCGATGTGTGAACACTTATGGGTCATATGAAT
387906815	39165	NM_005257.5(GATA6):c.533C>T (p.Ala178Val)	GATA6	Oct 01, 2010	MedGen:C3280939,OMIM:614474	Atrioventricular septal defect 5	germline	18	22171677	GCTTCGTGCACTCTGCGGCCGCGGCGGCAGCAGCCGCGGCGGCGGCCAGCTCCCCGGTCTA
-1	443475	NM_000094.3(COL7A1):c.5932C>T (p.Arg1978Ter)	COL7A1	Oct 30, 2017	MedGen:CN517202	not provided	germline	3	48575673	GGTAGCTTCCTGCCTGTGCCCGAACGGCGTCGAGGCCCCAAGGGGGACTCAGGCGAACAGG
532190594	363710	NM_000019.3(ACAT1):c.622C>T (p.Arg208Ter)	ACAT1	Jan 05, 2017	MedGen:CN517202	not provided	germline	11	108140107	GAGAATACAGCAAAGAAGCTGAATATTGCACGAAATGAACAGGACGCTTATGCTATTAATT
-1	442625	NM_002016.1(FLG):c.9595C>T (p.Gln3199Ter)	FLG	Jul 28, 2017	MedGen:CN517202	not provided	germline	1	152305291	GCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGTCCAGGAGAAGCA
121908420	20396	NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp)	ACAD8	Oct 27, 2017	MedGen:C1969809,OMIM:611283,Orphanet:ORPHA79159,SNOMED CT:445274004;MedGen:CN517202	Deficiency of isobutyryl-CoA dehydrogenase;not provided	germline	11	134261786	GCTGATATGGCAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCAGCAGTGGCTC
782092363	224814	NM_001135055.2(TKT):c.952C>T (p.Arg318Cys)	TKT	Jul 20, 2016	MedGen:C4310751,OMIM:617044	Short stature, developmental delay, and congenital heart defects	germline	3	53230612	TTCCCACTCTCTTCCTCACAGATAGCCACCCGCAAGGCCTACGGGCAGGCACTGGCCAAGC
137852516	25050	NM_000216.3(ANOS1):c.784C>T (p.Arg262Ter)	ANOS1	Jun 01, 2002	MedGen:C1563719,OMIM:308700	Kallmann syndrome 1	germline	X	8585339	GACATAAGACCCAGCCGATGGTACCAGTTTCGAGTGGCTGCTGTGAATGTGCATGGAACTC
587777784	166195	NM_032374.4(APOPT1):c.235C>T (p.Arg79Ter)	APOPT1	Sep 04, 2014	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	14	103571695	ATAGGACCCCCAGATAAATATTCAAACCTTCGACCTGTTCACTTTTACATACCTGAAAATG
606231453	171041	NM_001114748.1(TMEM240):c.346C>T (p.Arg116Cys)	TMEM240	Oct 01, 2014	MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773	Spinocerebellar ataxia 21	germline	1	1535616	TGGATGGACGGCGTCCTGCACTGCGCCGTGCGCGCCTGGAGAGCCGGACGGCGCTACGGTG
1060503165	392477	NM_001927.3(DES):c.394C>T (p.Gln132Ter)	DES	Aug 01, 2016	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909	Myofibrillar myopathy 1	germline	2	219418856	TACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACC
121908044	18786	NM_000527.4(LDLR):c.621C>T (p.Gly207=)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11105527	CTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGAT
886037827	263172	NM_138704.3(NSMCE3):c.626C>T (p.Pro209Leu)	NSMCE3	Dec 19, 2016	MedGen:CN239026;MedGen:C4310653,OMIM:617241	Lung damage, immunodeficiency and chromosome breakage syndrome;Lung disease, immunodeficiency, and chromosome breakage syndrome	germline;inherited;not applicable;unknown	15	29269080	GGGACTTTCTGCGGCGCTTAGGGGTCTACCCCACCAAGAAGCATTTAATTTTCGGAGATCC
876657725	230574	NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)	STRC	Nov 12, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	15	43611237	AGCCCCCAGACACTCCAGGCCATCCCTAGGCGAGTCCTGGTCGGGGCTTGTTCCTGCCTGG
1057518683	361214	NM_152594.2(SPRED1):c.973C>T (p.Arg325Ter)	SPRED1	Apr 10, 2015	MedGen:C1969623,OMIM:611431,Orphanet:ORPHA137605	Legius syndrome	de novo	15	38351302	CCTTCCTCATTAAAAATTAAGAAGTCAAAACGAAGAAAAGAGGATGGTGAACGTTCTCGCT
387906805	39141	NM_005691.3(ABCC9):c.4640C>T (p.Thr1547Ile)	ABCC9	Feb 01, 2007	MedGen:C3279695,OMIM:614050	Atrial fibrillation, familial, 12	germline	12	21805184	AGAATGGCCTCTTTTCCACTTTGGTGATGACCAACAAGTAGACCATCATGATCTATTGCAC
943680446	408035	NM_001080463.1(DYNC2H1):c.10219C>T (p.Arg3407Ter)	DYNC2H1	Sep 07, 2017	MedGen:CN674505;MedGen:CN517202	Short-rib polydactyly syndrome type III;not provided	germline;maternal	11	103253440	GTTAACTTTACTACAACAAGAAGTGGATTACGAGGGCAGGTATACATAGATAATAATAATT
121908652	21349	NM_030761.4(WNT4):c.247C>T (p.Arg83Trp)	WNT4	Jan 01, 2007	MedGen:C2675014,OMIM:158330,Orphanet:ORPHA247768	Mullerian aplasia and hyperandrogenism	germline	1	22129682	CTGGCCATTGAGGAGTGCCAGTACCAGTTCCGGAACCGGCGCTGGAACTGCTCCACACTCG
118192199	34644	NM_172107.3(KCNQ2):c.587C>T (p.Ala196Val)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63444762	GCTCCCAGGGCAACGTCTTTGCCACATCTGCGCTCCGGAGCCTGCGCTTCCTGCAGATTCT
886041219	264188	NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp)	NSD1	Mar 15, 2016	MedGen:CN517202	not provided	germline	5	177280796	CCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATA
794728517	197453	NM_000218.2(KCNQ1):c.961C>T (p.Gln321Ter)	KCNQ1	Dec 12, 2012	MedGen:CN517202	not provided	germline	11	2583474	ACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCT
137852294	25577	NM_000292.2(PHKA2):c.556C>T (p.Arg186Cys)	PHKA2	May 01, 1996	MedGen:C2748941	Glycogen storage disease IXa2	germline	X	18945140	TTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGG
750364303	400898	NM_001211.5(BUB1B):c.2308C>T (p.Arg770Ter)	BUB1B	Oct 17, 2016	MedGen:CN031748,OMIM:257300	Mosaic variegated aneuploidy syndrome 1	germline	15	40210133	TCAACAGGTAATGAGGATTACTGCATTAAACGAGAATACCTAATATGTGAAGATTACAAGT
587783558	169887	NM_178151.2(DCX):c.532C>T (p.Arg178Cys)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401163	GCACAGGCCAGGGAGAACAAGGACTTTGTGCGCCCCAAGCTGGTTACCATCATCCGCAGTG
749036865	222036	NM_000051.3(ATM):c.1369C>T (p.Arg457Ter)	ATM	Jul 17, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	11	108250834	CGACATGGGGAACGTACACCATATGTGTTACGATGCCTTACGGAAGTTGCATTGTGTCAAG
773464867	229908	NM_022124.5(CDH23):c.9556C>T (p.Arg3186Ter)	CDH23	Jul 30, 2015	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71812813	GAGCCAGCAGCTGTCAAGCCTGATGATGACCGATACCTGCGGGCTGCCATCCAGGAGTATG
786200961	178418	NM_006766.4(KAT6A):c.3070C>T (p.Arg1024Ter)	KAT6A	Jan 24, 2018	MedGen:CN225587;MedGen:C4225396,OMIM:616268,Orphanet:ORPHA457193;MedGen:CN517202	KAT6A syndrome;Mental retardation, autosomal dominant 32;not provided	de novo;germline	8	41937538	AAACCATTTCTCCACCGAAGGAGGAGAGTCCGAAAGCGCAAACACCACAATAGCAGTGTAG
118204051	15782	NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	germline;unknown	4	15567752	TGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCAT
121908458	20876	NM_006790.2(MYOT):c.179C>T (p.Ser60Phe)	MYOT	Nov 11, 2016	MedGen:C1836607,OMIM:609200	Myotilinopathy	germline	5	137870830	AAAGATTTTCTGCCTCCTCAACACTGAGCTCTCACATCACCATGTCCTCCTCTGCTTTCCC
199473282	38446	NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met)	SCN5A	Apr 28, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144;MedGen:CN029323,OMIM:601144	Brugada syndrome;Brugada syndrome 1;Brugada syndrome 1	germline	3	38551513	ACATCATCCAGAAGTACTTCTTCTCCCCGACGCTCTTCCGAGTCATCCGCCTGGCCCGAAT
886044894	273895	NM_201383.2(PLEC):c.7192C>T (p.Arg2398Ter)	PLEC	Aug 16, 2016	MedGen:C2931072,OMIM:226670,Orphanet:ORPHA257	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	germline	8	143922749	CGCCTCAAGCTGCGTGTGGCCGAGATGAGCCGAGCCCAGGCCCGCGCTGAGGAGGACGCCC
112901682	76366	NM_001613.2(ACTA2):c.115C>T (p.Arg39Cys)	ACTA2	May 22, 2017	MedGen:C2673186,OMIM:611788;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection;not provided	germline	10	88948816	CCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAGGTGAGGAAAATTATGA
886037950	248811	NM_024824.4(ZC3H14):c.460C>T (p.Arg154Ter)	ZC3H14	Sep 20, 2016	MedGen:C4310703,OMIM:617125	Mental retardation, autosomal recessive 56	germline	14	88572606	AGACAGACTTACGATGATGGAGCTGCAACCCGACTAATGTCAACAGTGAAACCTTTGAGGG
780001540	234486	NM_005591.3(MRE11):c.1447C>T (p.Arg483Ter)	MRE11	May 19, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	94459461	TTAGTGAAATACCAGTTGGAAAAAACACAGCGATTTCTTAAAGAACGTCATATTGATGCCC
281865422	29852	NC_000014.9:g.105855107C>T	IGHM	Oct 01, 2002	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110	Agammaglobulinemia, non-Bruton type	germline	14	105855107	GGTTTTCACAGCTTCGCCATTCTGGCGGGTCCAGGAGATGGTCACGCTGTCATAGGTGGTC
587782518	152233	NM_000038.5(APC):c.4216C>T (p.Gln1406Ter)	APC	Sep 21, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112839810	TTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTG
57920071	29528	NM_005572.3(LMNA):c.1444C>T (p.Arg482Trp)	LMNA	Nov 14, 2014	MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:CN517202	Familial partial lipodystrophy 2;not provided	germline	1	156136984	CAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTG
144080386	361772	NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	PADI3	Jan 05, 2017	MedGen:C0432347,OMIM:191480,Orphanet:ORPHA1410,SNOMED CT:254230001	Uncombable hair syndrome	germline	1	17270928	TCTTCACTGACACTGTGGTGTTCCGAGTGGCACCCTGGATCATGACGCCCAGCACTCTGCC
55729925	404974	NM_198053.2(CD247):c.301C>T (p.Gln101Ter)	CD247	Jun 23, 2015	MedGen:CN517202	not provided	germline	1	167435434	CCTCTAACGTCTTCCCGTTGTCTTTCCTAGCAGAGAAGGAAGAACCCTCAGGAAGGCCTGT
-1	460301	NM_000264.4(PTCH1):c.2062C>T (p.Gln688Ter)	PTCH1	Jun 05, 2017	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	germline	9	95468939	ACCGCTGAGCCGCGCTCCGAGATCTCTGTGCAGCCCGTCACCGTGACACAGGACACCCTCA
398123283	98606	NM_000266.3(NDP):c.109C>T (p.Arg37Ter)	NDP	Oct 28, 2016	MedGen:CN517202	not provided	germline	X	43958537	GACAGCTCATTCATAATGGACTCGGACCCTCGACGCTGCATGAGGCACCACTATGTGGATT
72555366	15978	NM_000404.3(GLB1):c.622C>T (p.Arg208Cys)	GLB1	May 02, 2017	MedGen:C0085131,Orphanet:ORPHA354;MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002;MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	GM1 gangliosidosis;GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	germline	3	33058200	GACTACCTGCGCTTCCTGCAGAAGCGCTTTCGCCACCATCTGGGGGATGATGTGGTTCTGT
587777158	106641	NM_144628.3(TBC1D20):c.292C>T (p.Gln98Ter)	TBC1D20	Dec 05, 2013	MedGen:C3810265,OMIM:615663	Warburg micro syndrome 4	germline	20	445095	AACCTACGGCAGATGAGCAAGGACTACCAACAAGTGTTGCTGGACGTCCGGCGGTCATTGC
80356999	69186	NM_007294.3(BRCA1):c.2275C>T (p.Gln759Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43093256	GATCTCATGTTAAGTGGAGAAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTA
863224191	211325	NM_015713.4(RRM2B):c.520C>T (p.Arg174Ter)	RRM2B	May 19, 2014	MedGen:CN517202	not provided	germline	8	102224076	TATGTTAAGAAAAAAGCAGATTGGGCCTTGCGATGGATAGCAGATAGAAAATCTACTTTTG
-1	442180	NM_000435.2(NOTCH3):c.268C>T (p.Arg90Cys)	NOTCH3	Apr 10, 2014	MedGen:CN517202	not provided	germline	19	15192449	GACCCCTGTCACTCAGGCCCCTGTGCTGGCCGTGGTGTCTGCCAGAGTTCAGTGGTGGCTG
587781219	165774	NM_130838.1(UBE3A):c.2233C>T (p.Gln745Ter)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25354414	ATTTTCTTGAATTTGCAGAATCTAGATTTCCAAGCACTAGAAGAAACTACAGAATATGACG
137852708	23875	NM_000336.2(SCNN1B):c.1849C>T (p.Pro617Ser)	SCNN1B	Jun 01, 1998	MedGen:C0221043,OMIM:177200,Orphanet:ORPHA526,SNOMED CT:71275003	Pseudoprimary hyperaldosteronism	germline	16	23380727	GAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGC
151340633	26832	NM_000052.6(ATP7A):c.601C>T (p.Arg201Ter)	ATP7A	Feb 05, 2016	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	77988722	GGAAAAATTGGGAAACTGCAAGGTGTTCAGCGAATTAAAGGTAATGTGTCTGGTGTTGATT
764139968	192276	NM_001127464.2(ZNF469):c.9184C>T (p.Arg3062Ter)	ZNF469	Jun 08, 2015	MedGen:C0268344,OMIM:229200,Orphanet:ORPHA90354,SNOMED CT:31798004	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	germline	16	88436738	GGCACGGCGAGCTCACAGGGGCCACAGAGCCGAAGGACAGAGGAGGCTGCAGGGGCAGGGA
137853013	20622	NM_001001486.1(ATP2C1):c.1402C>T (p.Arg468Ter)	ATP2C1	Jan 01, 2000	MedGen:C0085106,OMIM:169600,Orphanet:ORPHA2841,SNOMED CT:79468000	Familial benign pemphigus	germline	3	130969385	CAAAAGTGGATGGCTGTTAAGTGTGTACACCGAACACAGCAGGTATCCATCTGTTTAAAGA
387906705	38896	NM_003688.3(CASK):c.1639C>T (p.Gln547Ter)	CASK	Feb 08, 2013	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline	X	41561588	CGAGAAATCAATGGCATCAGTGTGGCTAACCAAACAGTGGAACAACTGCAAAAAATGCTTG
397515627	79357	NM_005267.4(GJA8):c.566C>T (p.Pro189Leu)	GJA8	Sep 01, 2007	MedGen:C1861828,OMIM:116200	Cataract 1	germline	1	147908521	CTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCC
-1	485715	NM_001252634.1(THRB):c.1348C>T (p.Leu450Phe)	THRB	Jun 29, 2011	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24122922	CTGCACATGAAGGTGGAATGCCCCACAGAACTCTTCCCCCCTTTGTTCTTGGAAGTGTTCG
121434583	31125	NM_002860.3(ALDH18A1):c.2350C>T (p.His784Tyr)	ALDH18A1	Oct 01, 2008	MedGen:C0268354,OMIM:219150,Orphanet:ORPHA2962,SNOMED CT:238826008,SNOMED CT:59252009	Cutis laxa-corneal clouding-oligophrenia syndrome	germline	10	95606800	TTCTCAGAGCATGGAAGTTTAAAATATCTTCATGAGAACCTCCCTATTCCTCAGAGAAACA
587781287	150513	NM_058216.2(RAD51C):c.955C>T (p.Arg319Ter)	RAD51C	Jul 31, 2017	MedGen:C3150659,OMIM:613399;MedGen:C3150653,OMIM:613390;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome;not provided	germline	17	58724090	GCTACAATACGGCTAATCTTTCATTGGGACCGAAAGCAAAGGTCAGTACAGAAACAAGTTA
201258800	444273	NM_015214.2(DDHD2):c.985C>T (p.Arg329Ter)	DDHD2	Oct 04, 2017	MedGen:CN517202	not provided	germline	8	38245878	ATTGTGGACACAGTTGCTTCTGAAATGAACCGAATATACACACTTTTTCTACAGAGGAACC
1057521922	374931	NM_002878.3(RAD51D):c.478C>T (p.Gln160Ter)	RAD51D	Aug 31, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	35106990	CTTCAGGCTAAAACCCAGGATGAGGAGGAACAGGTAAGGGCAGGATGCTGGGTTCCATTGA
876657714	230767	NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter)	NF1	Aug 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline	17	31327535	TCTACTGCTGTCCAAGTAACTTCAGCAGAGCGAACAAAAGTCCTAGGGCAATCAGTCTTTC
111033538	17382	NM_032601.3(MCEE):c.139C>T (p.Arg47Ter)	MCEE	Jan 07, 2016	MedGen:C1855100,OMIM:251120,Orphanet:ORPHA308425	Methylmalonyl-CoA epimerase deficiency	germline	2	71124445	CAAGTGACAGGTTCTGTGTGGAACCTGGGTCGACTCAACCATGTAGCCATAGCAGTGCCAG
775024756	361755	NM_004644.4(AP3B2):c.199C>T (p.Arg67Ter)	AP3B2	Jan 10, 2017	MedGen:C4310637,OMIM:617276	Epileptic encephalopathy, early infantile, 48	germline	15	82689223	TACCTTGACCCCACCACCCAGATGATTGCCCGAGGAAAGAATGCTTCAGACCTGTTTCCCG
769721856	269390	NM_001130987.1(DYSF):c.4282C>T (p.Gln1428Ter)	DYSF	Dec 07, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71612701	CCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGT
80338799	34194	NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile)	RAF1	Apr 03, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0175704,Orphanet:ORPHA500;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Noonan syndrome with multiple lentigines;Rasopathy;not provided	germline;somatic	3	12585745	CAGTGAAAATTGGAGATTTTGGTTTGGCAACAGTAAAGTCACGCTGGAGTGGTTCTCAGCA
63750577	33197	NM_000021.3(PSEN1):c.509C>T (p.Ser170Phe)	PSEN1	Dec 23, 2010	MedGen:C1843013,OMIM:607822;MedGen:CN517202	Alzheimer disease, type 3;not provided	germline	14	73186881	AGGTCATCCATGCCTGGCTTATTATATCATCTCTATTGTTGCTGTTCTTTTTTTCATTCAT
796065344	200769	NM_019074.3(DLL4):c.1660C>T (p.Gln554Ter)	DLL4	Aug 19, 2015	MedGen:C0265268,Orphanet:ORPHA974,SNOMED CT:34748004;MedGen:C4225271,OMIM:616589	Adams-Oliver syndrome;Adams-Oliver syndrome 6	maternal;unknown	15	40936647	CTGCTGGGCATGGTGGCAGTGGCTGTGCGGCAGCTGCGGCTTCGACGGCCGGACGACGGCA
587783901	168356	NM_133433.3(NIPBL):c.2389C>T (p.Arg797Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36985569	AAATCTGACTCACCTCGGTTAAAATCAGAACGAGCTGAAGCCTTAAAGCAGAGACCTGATG
-1	437689	NM_001145112.1(PATL2):c.784C>T (p.Arg262Ter)	PATL2	Oct 24, 2017	MedGen:CN562785,OMIM:617743	OOCYTE MATURATION DEFECT 4	germline	15	44669869	GAAATGTGCCTCTCTTCTCATGCAGTGGTCCGAATCGAGGGTTCCCTGGGCCAGGTAGCTG
398123409	99011	NM_000466.2(PEX1):c.2230C>T (p.Gln744Ter)	PEX1	Sep 28, 2012	MedGen:CN517202	not provided	germline	7	92502076	ATTCGAATTTTGTGTTTTTTTCTTTAGGAACAAAGATGTGAAATTCTGTGTAATGTAATAA
869320705	227426	NM_004586.2(RPS6KA3):c.913C>T (p.Arg305Ter)	RPS6KA3	Nov 17, 2015	MedGen:C0265252,OMIM:303600,SNOMED CT:15182000	Coffin-Lowry syndrome	de novo	X	20177017	GCGCAGAGTCTTTTACGAATGCTTTTCAAGCGAAATCCTGCAAACAGATTAGGTAAAAATT
886041772	264758	NM_000548.4(TSC2):c.4183C>T (p.Gln1395Ter)	TSC2	May 25, 2016	MedGen:CN517202	not provided	germline	16	2084405	TCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGG
876657701	228967	NM_000251.2(MSH2):c.1384C>T (p.Gln462Ter)	MSH2	Feb 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47445655	GAAATGATAGAAACAACTTTAGATATGGATCAGGTATGCAATATACTTTTTAATTTAAGCA
-1	446299	NM_001958.3(EEF1A2):c.796C>T (p.Arg266Trp)	EEF1A2	Oct 18, 2017	MedGen:CN517202	not provided	germline	20	63490712	TCTGCAGGCATTGGCACGGTGCCCGTGGGCCGGGTGGAGACCGGCATCCTGCGGCCGGGCA
61753224	226047	NM_000287.3(PEX6):c.1715C>T (p.Thr572Ile)	PEX6	Oct 01, 2015	MedGen:C4225267,OMIM:616617	Heimler syndrome 2	germline	6	42967537	GCAGCTGCCCTCCCCTCATGGTTGTGGCCACCACAAGCCGGGCCCAGGACCTGCCTGCTGA
794728411	197353	NM_000238.3(KCNH2):c.214C>T (p.Pro72Ser)	KCNH2	Apr 12, 2014	MedGen:CN517202	not provided	germline	7	150974804	CGACCCTGCACCTGCGACTTCCTGCACGGGCCGCGCACGCAGCGCCGCGCTGCCGCGCAGA
1064793911	405448	NM_001256850.1(TTN):c.74680C>T (p.Gln24894Ter)	TTN	Jul 28, 2015	MedGen:CN517202	not provided	germline	2	178566529	GAAATCTGTAAAGCAGATGAAGAAGAATGGCAAATAGTTACTCCACAGACTGGCCTGAGAG
768950892	424367	NM_016030.5(TRAPPC12):c.1880C>T (p.Ala627Val)	TRAPPC12	Sep 18, 2017	MedGen:CN474476,OMIM:617669;MedGen:CN417131	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY;Progressive childhood encephalopathy	germline;maternal	2	3478848	CTAACTGCCACCGTTGCTTGTGTTACAGCGCGTTCCTTCACCTCGGGCAGAATAACTTTGC
137852641	24263	NM_000435.2(NOTCH3):c.994C>T (p.Arg332Cys)	NOTCH3	Apr 30, 2014	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003;MedGen:CN517202	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not provided	germline	19	15191466	GTGTGCTTCCATGGGGCCACCTGCCATGACCGCGTGGCTTCTTTCTACTGTGCCTGCCCCA
767405535	200662	NM_138413.3(HOGA1):c.346C>T (p.Gln116Ter)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97599094	CTCACCTCTCTCCTTCCTCTGGCAGCCACTCAAGCCACAGTGGAGATGACCGTCAGCATGG
398122981	97326	NM_024876.3(COQ8B):c.1027C>T (p.Arg343Trp)	COQ8B	Jun 07, 2016	MedGen:C3809965,OMIM:615573	Nephrotic syndrome, type 9	germline	19	40700318	GACCAGTGCCAGGGCCTAAGCCAGGACCTGCGGAACCAGGTATGCTGTCTGGTGGCACAGT
121918020	28723	NM_000478.5(ALPL):c.814C>T (p.Arg272Cys)	ALPL	Sep 01, 2008	MedGen:C0220743,OMIM:241510,SNOMED CT:30174008;Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Childhood hypophosphatasia;Infantile hypophosphatasia	germline	1	21570326	TCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCCCACA
146816935	95048	NM_000179.2(MSH6):c.892C>T (p.Arg298Ter)	MSH6	Sep 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	2	47798875	GAAGGCCTGAACAGCCCTGTCAAAGTTGCTCGAAAGCGGAAGAGAATGGTGACTGGAAATG
387907118	40092	NM_174917.4(ACSF3):c.1567C>T (p.Arg523Ter)	ACSF3	Aug 14, 2011	MedGen:C3280314,OMIM:614265,Orphanet:ORPHA289504	Combined malonic and methylmalonic aciduria	germline	16	89146003	GGCCAGCGGGTCACTGCTGTGGTGACCCTCCGAGAAGGACACTCACTGTCCCACAGGGAGC
116840751	46873	NM_000168.5(GLI3):c.2149C>T (p.Gln717Ter)	GLI3	Sep 13, 2012	MedGen:C0265220,OMIM:146510,Orphanet:ORPHA672,SNOMED CT:56677004	Pallister-Hall syndrome	not provided	7	41967878	CCTGGTGGTCAGTCTTCATGCAGCAGCCAACAGTCCCCCATCAGCAACTATTCCAACAGTG
202001274	361822	NM_001128608.1(MAPKBP1):c.1318C>T (p.Arg440Ter)	MAPKBP1	Jan 25, 2018	MedGen:CN781300,OMIM:617271	Nephronophthisis 20	germline	15	41815388	AGCTCCGGGGTGCATGGCTCCACCCTCCACCGAAACATCCTCAGCAGTGTGAGCCCTGAGG
121908880	21493	NM_000369.2(TSHR):c.1915C>T (p.Pro639Ser)	TSHR	Apr 01, 1999	MedGen:C1836706,OMIM:609152,Orphanet:ORPHA424	Hyperthyroidism, nonautoimmune	germline	14	81143973	TTGATCTTCACCGACTTCATATGCATGGCCCCAATCTCATTCTATGCTCTGTCAGCAATTC
312262900	49417	NM_000095.2(COMP):c.1754C>T (p.Thr585Met)	COMP	Jul 25, 2013	MedGen:C1838280,OMIM:132400,Orphanet:ORPHA93308;MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005	Multiple epiphyseal dysplasia 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	not provided	19	18785056	CTGCCTTCAATGGCGTGGACTTCGAGGGCACGTTCCATGTGAACACGGTCACGGATGACGA
1114167692	419438	NM_000179.2(MSH6):c.478C>T (p.Gln160Ter)	MSH6	Mar 31, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47795914	TTCTTTCTAGGTTCAAAATCAAAGGAAGCCCAGAAGGGAGGTCATTTTTACAGTGCAAAGC
387907146	40186	NM_024589.2(ROGDI):c.469C>T (p.Arg157Ter)	ROGDI	Apr 06, 2012	MedGen:C0406740,OMIM:226750,SNOMED CT:109478007	Kohlschutter's syndrome	germline	16	4798631	GACGCAGTGATGCTGCAGCTGACCAGAGCCCGAAACCGGCTCACCACCCCCGCCACCCTCA
63749794	426884	NM_001171.5(ABCC6):c.3340C>T (p.Arg1114Cys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163159	CTGTATGTGGTTAGCTCATGCCAGCTGAGACGCTTGGAGTCAGCCAGCTACTCGTCTGTCT
104894090	24036	NM_000349.2(STAR):c.562C>T (p.Arg188Cys)	STAR	Dec 01, 2006	MedGen:C0342474,OMIM:201710,Orphanet:ORPHA90790,SNOMED CT:44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency	germline	8	38146051	CTGGTGGGGCCCCGTGACTTTGTGAGCGTGCGCTGTGCCAAGCGCCGAGGCTCCACCTGTG
121434432	21899	NM_001287.5(CLCN7):c.1663C>T (p.Gln555Ter)	CLCN7	Jan 26, 2001	MedGen:C1969106,OMIM:611490	Osteopetrosis autosomal recessive 4	germline	16	1449282	GGCAAATACGCCCTGATGGGAGCTGCTGCCCAGCTGGGTATGTCCCAGCTCTTGCCCGATG
80359134	67344	NM_000059.3(BRCA2):c.8773C>T (p.Gln2925Ter)	BRCA2	Sep 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32379335	AAATGGTCACAGGGTTATTTCAGTGAAGAGCAGTTAAGAGCCTTGAATAATCACAGGCAAA
876658163	234266	NM_000051.3(ATM):c.6397C>T (p.Gln2133Ter)	ATM	May 19, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108320003	AGTTACCATGAATCATTGTACAATGCTCTACAATCTCTAAGAGACAGAGAATTCTCTACAT
28935469	26794	NM_001110556.1(FLNA):c.620C>T (p.Pro207Leu)	FLNA	Oct 21, 2015	Human Phenotype Ontology:HP:0000175,MedGen:C2240378;Human Phenotype Ontology:HP:0000405,MedGen:C0018777;MedGen:C0265251,OMIM:311300,Orphanet:ORPHA90650,SNOMED CT:54036001;Human Phenotype Ontology:HP:0004322,MedGen:C0349588	Cleft palate;Conductive hearing impairment;Oto-palato-digital syndrome, type I;Short stature	germline;unknown	X	154367844	CCCTGGGCGCCCTGGTGGACAGCTGTGCCCCGGGTGAGGGGGCGCAGAGGCAGGAGAGACT
869025520	224271	NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter)	SCN5A	Feb 08, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38579372	GCCAGTGCATCTCAGGCCGACTGGCGGCAGCAGTGGAAAGCGGAACCCCAGGCCCCAGGGT
780225183	264538	NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter)	CEP290	Jun 05, 2017	MedGen:CN517202	not provided	germline	12	88114536	ACAGTAAAAGAATTAGTTGAAGAAAATAAGCAACTTGAAGAAGGTATGAAAGAAATATTGC
121913650	29157	NM_000257.3(MYH7):c.5134C>T (p.Arg1712Trp)	MYH7	Jul 26, 2017	MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23415652	GCGGAGCAGGAGCTGATTGAGACTAGTGAGCGGGTGCAGCTGCTGCATTCCCAGGTGAGCA
796053130	201362	NM_021007.2(SCN2A):c.3947C>T (p.Ala1316Val)	SCN2A	Nov 16, 2016	Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Epileptic encephalopathy;not provided	de novo;germline	2	165373322	GAACACTAAGAGCTCTGAGGCCACTGAGAGCTTTGTCCCGGTTTGAAGGAATGAGGGTAAG
80359099	67268	NM_000059.3(BRCA2):c.8485C>T (p.Gln2829Ter)	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32370555	GATGTAATTATTCAAAGAGCATACCCTATACAGGTATGATGTATTCTTGAAACTTACCATA
794727120	191521	NM_001142800.1(EYS):c.2194C>T (p.Gln732Ter)	EYS	Jan 20, 2015	MedGen:C1864446,OMIM:602772	Retinitis pigmentosa 25	germline	6	64997647	AATCCAGGCTATGTTGGGATAAGATGTGAACAGGACATTGATGACTGCATCCTGAATGCCT
863225232	214278	NM_153704.5(TMEM67):c.1073C>T (p.Pro358Leu)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93782402	TCTGTTGTATTATTTTGCTGCAGCTTTGTCCAGACACAGAGACAAGGCTAAATGCTGCTTA
587782993	166184	NM_005859.4(PURA):c.556C>T (p.Gln186Ter)	PURA	Jan 05, 2015	Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C4015357,OMIM:616158;Human Phenotype Ontology:HP:0001319,MedGen:C2267233;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Delayed speech and language development;Global developmental delay;Intellectual disability;Mental retardation, autosomal dominant 31;Neonatal hypotonia;Seizures	germline	5	140114737	CGGGGGCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGGGCTCA
193922145	44572	NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter)	COL1A1	Oct 20, 2015	MeSH:D010013,MedGen:C0029434,Orphanet:ORPHA666,SNOMED CT:78314001;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta;Osteogenesis imperfecta type I	germline	17	50191457	GATGCTGGTGCCCCTGGAGCTCCCGGTAGCCAGGGCGCCCCTGGCCTTCAGGGAATGCCTG
104893903	24045	NM_004387.3(NKX2-5):c.592C>T (p.Gln198Ter)	NKX2-5	May 01, 1999	MedGen:C1862388,OMIM:108900	Atrial septal defect 7 with or without atrioventricular conduction defects	germline	5	173232952	AACCGGCGCTACAAGTGCAAGCGGCAGCGGCAGGACCAGACTCTGGAGCTGGTGGGGCTGC
200818962	237408	NM_006929.4(SKIV2L):c.1120C>T (p.Arg374Ter)	SKIV2L	Apr 28, 2016	MedGen:CN517202	not provided	germline	6	31962494	GCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCTGCTCA
62625014	31971	NM_000087.3(CNGA1):c.959C>T (p.Ser320Phe)	CNGA1	Sep 17, 2013	MedGen:C3151059,OMIM:613756;MedGen:C3151059,OMIM:613756	Retinitis pigmentosa 49;Retinitis pigmentosa 49	germline	4	47937535	TTATCCACTGGAATGCATGTGTGTTCTACTCTATTTCTAAAGCTATTGGATTTGGAAATGA
758683062	210228	NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter)	ACVRL1	Jun 13, 2017	MedGen:C1838163,OMIM:600376;MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Hereditary hemorrhagic telangiectasia type 2;Primary pulmonary hypertension	germline	12	51913675	GCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGC
754122018	233127	NM_000038.5(APC):c.5038C>T (p.Gln1680Ter)	APC	Aug 02, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	5	112840632	GCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCA
137853305	27502	NM_003289.3(TPM2):c.397C>T (p.Arg133Trp)	TPM2	Mar 06, 2007	MedGen:C1834523,OMIM:601680,Orphanet:ORPHA1147;MedGen:CN517202	Distal arthrogryposis type 2B;not provided	de novo;germline	9	35685529	CCTTTCAGAGGAATGAAGGTCATCGAAAACCGGGCCATGAAGGATGAGGAGAAGATGGAAC
786205697	188214	NM_016343.3(CENPF):c.8692C>T (p.Arg2898Ter)	CENPF	Mar 01, 2015	MedGen:C1855705,OMIM:243605,OMIM:616369	Stromme syndrome	germline	1	214657139	CTGTGTTCACAGCAATCTAAACAAGATTCCCGAGGGTCTCCTTTGCTAGGTCCAGTTGTTC
267607118	16425	NM_153704.5(TMEM67):c.130C>T (p.Gln44Ter)	TMEM67	Oct 01, 2009	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	germline	8	93755044	TTACAGGCCCAGACCTTCTCTTTCCCTTTCCAGCAGCCGGAGAAGTGCGACAACAACCAGT
587777175	106771	NM_001007565.2(TFG):c.316C>T (p.Arg106Cys)	TFG	Feb 27, 2014	MedGen:C3714897,OMIM:615658,Orphanet:ORPHA431329	Spastic paraplegia 57, autosomal recessive	germline	3	100728759	CCCCTTGAATCAAGTCAGGTGAAATATCTCCGTCGAGAACTGATAGAACTTCGAAATAAAG
-1	477506	NM_024675.3(PALB2):c.2218C>T (p.Gln740Ter)	PALB2	Mar 23, 2017	MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	16	23629936	ATCTTAGGTACTACTCCAGCCTTTGGCCCTCAAGGCTCCTATGAAAAAGCATCTACAGAAG
782190413	211361	NM_003172.3(SURF1):c.574C>T (p.Arg192Trp)	SURF1	Jan 06, 2016	MedGen:C4225246,OMIM:616684,Orphanet:ORPHA391351;MedGen:CN517202	Charcot-Marie-Tooth disease, type 4k;not provided	germline	9	133352708	GTTCCCAGGAAGAAAGTGAATCCTGAAACCCGGCAGAAAGGCCAGGTAAGGGACATGGACT
758180890	259744	NM_003494.3(DYSF):c.1129C>T (p.Arg377Ter)	DYSF	Mar 29, 2016	na;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:CN517202	DYSF- Related Disorder;Miyoshi muscular dystrophy 1;not provided	germline;paternal	2	71526295	AACCTGCTCCGGCCCACAGGCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAGGTCTTCC
61750152	105192	NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met)	ABCA4	Apr 01, 2017	MedGen:C1866422,OMIM:601718;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Retinitis pigmentosa 19;Stargardt disease 1;not provided	germline;unknown	1	94025011	AGCGCAGCACGGAAATTCTACAAGACCTGACGGACAGGAACATCTCCGACTTCTTGGTAAA
199476095	23237	NM_001009944.2(PKD1):c.12682C>T (p.Arg4228Ter)	PKD1	Jan 01, 1996	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	Polycystic kidney disease, adult type	germline	16	2089957	GTGTTCGAGGCCCTGCTCACCCAGTTTGACCGACTCAACCAGGCCACAGAGGACGTCTACC
121909011	22178	NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp)	CFTR	Sep 08, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202;MedGen:CN169374	Cystic fibrosis;not provided;not specified	germline;inherited;unknown	7	117540230	CCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCA
578185749	259363	NM_001242896.1(DEPDC5):c.2620C>T (p.Arg874Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31843199	ACGCTGAAGGATAAGATGATCACAGTGACGCGATACCTTCCCAAGTGAGTATTTGGATATT
121965010	15279	NM_000398.6(CYB5R3):c.655C>T (p.Arg219Ter)	CYB5R3	May 01, 2008	MedGen:C2749560	Methemoglobinemia type 2	germline	22	42623867	CCCCTGCAGACCGAGAAGGACATCCTGCTGCGACCTGAGCTGGAGGAACTCAGGAACAAAC
267607982	419388	NM_000251.2(MSH2):c.1933C>T (p.Gln645Ter)	MSH2	Oct 02, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	2	47475198	AAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACG
587777219	125784	NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val)	KCNQ2	Jun 27, 2017	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN169299;MedGen:CN517202	Early infantile epileptic encephalopathy 7;KCNQ2-Related Disorders;not provided	de novo;germline	20	63442428	AGGGGGAGAACGACCACTTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGGTGAGTTG
121913005	31873	NM_001927.3(DES):c.1325C>T (p.Thr442Ile)	DES	Dec 17, 2015	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;MedGen:CN517202	Myofibrillar myopathy 1;not provided	germline	2	219425699	GCCCTGAGCAAAGGGGTTCTGAGGTCCATACCAAGAAGACGGTGATGATCAAGACCATCGA
1057520858	379449	NM_001111125.2(IQSEC2):c.2776C>T (p.Arg926Ter)	IQSEC2	Dec 21, 2016	Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530;MedGen:CN517202	Mental retardation, X-linked 1;not provided	germline	X	53243445	CCAGGGGTTGACAATGGTGAAGACATCCCCCGAGACCTCCTGGTGGGCATCTACCAGCGCA
1131690940	420711	NM_000455.4(STK11):c.658C>T (p.Gln220Ter)	STK11	Jul 25, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:ORPHA2869,SNOMED CT:54411001	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	germline	19	1220641	TGCCGGACCAGCCAGGGCTCCCCGGCTTTCCAGCCGCCCGAGATTGCCAACGGCCTGGACA
397507224	46114	NM_007294.3(BRCA1):c.3991C>T (p.Gln1331Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43091540	TCCAAACAAATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGG
386134212	36738	NM_003060.3(SLC22A5):c.865C>T (p.Arg289Ter)	SLC22A5	May 31, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline	5	132387065	GAGTCCCCCCGATGGCTCATCTCTCAGGGACGATTTGAAGAGGCAGAGGTGATCATCCGCA
886041405	264689	NM_003482.3(KMT2D):c.5707C>T (p.Arg1903Ter)	KMT2D	Jul 07, 2016	MedGen:CN517202	not provided	germline	12	49042816	CAGCTCTTCAAGGATGTTCTGGGCTCTGAACGAGAACAGCATCTGGGTTGTGGAACCCCTG
397514460	38923	NM_001173479.1(ARHGEF9):c.4C>T (p.Gln2Ter)	ARHGEF9	Aug 01, 2011	MedGen:C1845102,OMIM:300607,Orphanet:ORPHA163985	Early infantile epileptic encephalopathy 8	germline	X	63785142	TCAGAGAAGCCGGACTTCGCAAGCACCATGCAGTGGATAAGGGGCGGATCGGGAATGGTGA
587777741	166018	NM_018685.4(ANLN):c.1291C>T (p.Arg431Cys)	ANLN	Sep 01, 2014	MedGen:C4014993,OMIM:616032	Focal segmental glomerulosclerosis 8	germline	7	36411062	GTAAAATACAGCTTTTGATGGGTTTAGGAACGTCAAAAAGAACTAGCATGTCTTCGTGGCC
121918383	32922	NM_000384.2(APOB):c.3997C>T (p.Arg1333Ter)	APOB	Sep 12, 1988	MedGen:C1862596,Orphanet:ORPHA426,SNOMED CT:60193003	Familial hypobetalipoproteinemia	germline	2	21013379	TTCAAGTCTGTGGGATTCCATCTGCCATCTCGAGAGTTCCAAGTCCCTACTTTTACCATTC
781028867	204571	NM_001080432.2(FTO):c.956C>T (p.Ser319Phe)	FTO	Sep 16, 2015	MedGen:C2752001,OMIM:612938	Growth retardation, developmental delay, coarse facies, and early death	germline	16	53873846	TTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAGGTAAGTGTAAA
786204864	187361	NM_000314.6(PTEN):c.511C>T (p.Gln171Ter)	PTEN	Oct 13, 2017	MedGen:C0265326,OMIM:153480,Orphanet:ORPHA109;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	Bannayan-Riley-Ruvalcaba syndrome;Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	germline	10	87952136	TCTGTCCACCAGGGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACC
796052985	201544	NM_001165963.1(SCN1A):c.2782C>T (p.Gln928Ter)	SCN1A	Apr 09, 2014	MedGen:CN517202	not provided	germline	2	166037940	GATTGTGTCTGCAAGATCGCCAGTGATTGTCAACTCCCACGCTGGCACATGAATGACTTCT
878853970	238618	NM_000384.2(APOB):c.1672C>T (p.Arg558Ter)	APOB	Jan 11, 2016	MedGen:CN182502,OMIM:615558	Hypobetalipoproteinemia, familial, 1	germline	2	21028484	TTCCTTGATGATGCTTCTCCGGGAGATAAGCGACTGGCTGCCTATCTTATGTTGATGAGGA
72664295	427034	NM_001171.5(ABCC6):c.1176+6C>T	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16201995	CATCACTGGCCTGGTGTACAGAAAGGTGAGCCCTGGGGGACAAGGGCAGGTCTTCCCAGCC
267606971	18268	NM_013382.5(POMT2):c.551C>T (p.Thr184Met)	POMT2	Nov 30, 2007	MedGen:C3150418,OMIM:613158,Orphanet:ORPHA206559	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	germline	14	77302940	TTTCACCAGCGAGCTCATGTTTTTCAGACACGGGATGCCTCACTCTGTCCCAGTACATCCT
368088025	361383	NM_000329.2(RPE65):c.130C>T (p.Arg44Ter)	RPE65	May 07, 2017	MedGen:C1859844,OMIM:204100;MedGen:C3151086,OMIM:613794;MedGen:CN517202	Leber congenital amaurosis 2;Retinitis pigmentosa 20;not provided	germline	1	68446825	ATCCCCCTCTGGCTCACCGGCAGTCTCCTTCGATGTGGGCCAGGACTCTTTGAAGTTGGAT
45451497	58419	NM_000548.4(TSC2):c.3412C>T (p.Arg1138Ter)	TSC2	Mar 09, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2080179	CTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCC
121908065	19195	NM_000173.6(GP1BA):c.515C>T (p.Ala172Val)	GP1BA	Mar 01, 2001	MedGen:C3278148;MedGen:C2750610,OMIM:153670	Bernard-Soulier syndrome, type A1;Bernard-Soulier syndrome, type A2, autosomal dominant	germline	17	4933119	CCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGG
587778618	138806	NM_000535.6(PMS2):c.1687C>T (p.Arg563Ter)	PMS2	Jul 06, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided;not specified	germline	7	5987078	TCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAA
267607217	17798	NM_014319.4(LEMD3):c.1963C>T (p.Arg655Ter)	LEMD3	Jun 01, 2009	MedGen:C3149399;MedGen:C3149695	Dermatofibrosis lenticularis disseminata, isolated;Osteopoikilosis with melorheostosis	germline	12	65239970	GTTTGTGTCGTTCTGCGTTACATGAAATATCGATGGACAAAAGAAGAGGAGGAAACAAGGC
864321674	214794	NM_015100.3(POGZ):c.2935C>T (p.Arg979Ter)	POGZ	Jan 06, 2016	MedGen:C4225351,OMIM:616364,Orphanet:ORPHA468678	White-sutton syndrome	de novo;germline	1	151406100	AAAAAGGAGCAGCTGTCTGTGAAGAAGCTTCGAGTAGTACTGTTTGCTCTATGCTGCAATA
-1	443737	NM_021911.2(GABRB2):c.899C>T (p.Pro300Leu)	GABRB2	Sep 05, 2017	MedGen:CN517202	not provided	germline	5	161331061	CCCACCTCCGGGAAACTCTCCCTAAAATCCCCTATGTGAAGGCCATTGACATGTACCTGAT
121909547	33043	NM_000488.3(SERPINC1):c.235C>T (p.Arg79Cys)	SERPINC1	Jan 01, 1996	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173914726	GAACAGAAGATCCCGGAGGCCACCAACCGGCGTGTCTGGGAACTGTCCAAGGCCAATTCCC
587777646	153756	NM_001080510.4(METTL23):c.397C>T (p.Gln133Ter)	METTL23	Nov 22, 2016	MedGen:C4014745,OMIM:615942	Mental retardation, autosomal recessive 44	germline	17	76733367	AATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTA
1114167509	419791	NM_130799.2(MEN1):c.1348C>T (p.Gln450Ter)	MEN1	Dec 24, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	64805036	CTTGTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGG
-1	473723	NM_004656.3(BAP1):c.1153C>T (p.Arg385Ter)	BAP1	Dec 01, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	52404550	GAAGACCTGGCGGCAGGTGTGGGCCGCAGCCGAGTTCCAGTCCGCCCACCCCAGCAGTACT
147088100	190168	NM_001003811.1(TEX11):c.450C>T (p.Ala150=)	TEX11	May 28, 2015	Gene:100820759,MedGen:C1839841,OMIM:309120	Spermatogenic failure, X-linked, 2	germline	X	70853248	CGCTGATGAATGTTTTCAAGCTGCTGTGGCCGTAAGTTACCATTGACTTTTAGCTGAGGCA
-1	427794	NM_006015.5(ARID1A):c.5164C>T (p.Arg1722Ter)	ARID1A	Dec 30, 2015	MedGen:C3553247,OMIM:614607	Mental retardation, autosomal dominant 14	germline	1	26779062	TTGCTAGAGCTCCTTGTAGAATATTTCCGACGATGCCTGATTGAGATCTTTGGCATTTTAA
-1	440165	NM_001080463.1(DYNC2H1):c.7112C>T (p.Thr2371Ile)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	maternal;unknown	11	103187558	TCAACCTACCTAAACTTGATAAATGGGGGACCAGTACTTTGGTAGCATTCCTACAACAGGT
80356534	27948	NM_152296.4(ATP1A3):c.1838C>T (p.Thr613Met)	ATP1A3	May 04, 2014	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	de novo;germline;inherited	19	41978041	TCATCATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAGGGTGTGGGCAT
74315415	28453	NM_000311.4(PRNP):c.398C>T (p.Ala133Val)	PRNP	Mar 13, 2007	MedGen:C0017495,OMIM:137440,Orphanet:ORPHA356,SNOMED CT:67155006	Gerstmann-Straussler-Scheinker syndrome	germline	20	4699618	GGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAG
1131691211	421138	NM_177438.2(DICER1):c.1174C>T (p.Arg392Ter)	DICER1	Mar 11, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	14	95124398	GAAATCTTACGCAAATATAAACCATATGAGCGACAGCAGTTTGAAAGCGTTGAGTGGTATA
397514487	45742	NM_015426.4(POC1A):c.241C>T (p.Arg81Ter)	POC1A	Dec 01, 2014	MedGen:CN228289;MedGen:C3542022,OMIM:614813,Orphanet:ORPHA314394	Primordial dwarfism;Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	germline	3	52149850	CCTTCGGGACACCTGCTTGCTTCCGGCTCCCGAGACAAGACTGTCCGCATCTGGGTACCCA
730880605	179173	NM_000256.3(MYBPC3):c.3775C>T (p.Gln1259Ter)	MYBPC3	Feb 28, 2013	MedGen:CN517202	not provided	germline	11	47332111	GGCATCTATGTCTGCAGGGCCACCAACTTACAGGGCGAGGCACGGTGTGAGTGCCGCCTGG
139620139	143268	NM_017565.3(FAM20A):c.1432C>T (p.Arg478Ter)	FAM20A	Jan 01, 2014	MedGen:C2931783,OMIM:204690,Orphanet:ORPHA1031,SNOMED CT:109477002	Enamel-renal syndrome	germline	17	68537671	CAAGCTGACTACAGACTCAGCGATGTGATGCGAGAATCACTGCTGGAAGACCAGCTCAGCC
754129466	482203	NM_015338.5(ASXL1):c.4243C>T (p.Arg1415Ter)	ASXL1	Jan 02, 2018	MedGen:CN517202	not provided	germline	20	32436955	GTCATGGACTTGCCCTTCTGGAAATTACCCCGAGAGCCAGGGAAGGGGCTCAGTGAGCCTC
121909114	22511	NM_004425.3(ECM1):c.1036C>T (p.Gln346Ter)	ECM1	Apr 01, 2002	MedGen:C0023795,OMIM:247100,Orphanet:ORPHA530,SNOMED CT:38692000	Lipid proteinosis	germline	1	150511784	CTGGCACTGATCCAGCTGGAGAGGGAGTTCCAGCGCTGCTGCCGCCAGGGGAACAATCACA
267606855	15234	NM_001080476.2(GRXCR1):c.229C>T (p.Gln77Ter)	GRXCR1	Feb 12, 2010	MedGen:C1414017,OMIM:613285	Deafness, autosomal recessive 25	germline	4	42893495	GAGTCAGAAGGTGATGAGAATGAGAATGACCAGGATAGCTTGCTGGTGTTAGCAAGGGCTG
-1	480557	NM_007327.3(GRIN1):c.1666C>T (p.Gln556Ter)	GRIN1	Feb 22, 2018	MedGen:CN737161,OMIM:617820	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE	germline	9	137162205	ATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGG
387906822	39177	NM_003999.2(OSMR):c.2081C>T (p.Pro694Leu)	OSMR	Oct 31, 2016	MedGen:C0268398,OMIM:105250;MedGen:CN517202	Primary localized cutaneous amyloidosis 1;not provided	germline	5	38925240	CAGAATGTTGCAAATACAAAATTGACAACCCGGAAGAAAAGGCATTGATTGTGGACAACCT
121918545	20666	NM_001099274.1(TINF2):c.844C>T (p.Arg282Cys)	TINF2	Dec 20, 2016	MedGen:C1851970,OMIM:127550;MedGen:C3151445,OMIM:613990;MedGen:CN517202	Dyskeratosis congenita autosomal dominant;Dyskeratosis congenita, autosomal dominant, 3;not provided	germline	14	24240636	TGGGCCTCCACTAGGGGAGGCCATAAGGAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGA
118204109	16501	NM_000190.3(HMBS):c.601C>T (p.Arg201Trp)	HMBS	Dec 02, 2015	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006;MedGen:CN517202	Acute intermittent porphyria;not provided	germline	11	119091515	GCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGCCCCTATCC
1060503605	400386	NM_177438.2(DICER1):c.3007C>T (p.Arg1003Ter)	DICER1	Sep 10, 2016	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	germline	14	95105764	AATTCTTACAGACTTAATCTTTTGACACCTCGACATTTGAATCAGAAGGGGAAAGCGCTTC
1085307512	415818	NM_000307.4(POU3F4):c.232C>T (p.Gln78Ter)	POU3F4	Apr 25, 2017	MedGen:CN517202	not provided	germline	X	83508556	TCCTCCACACTGGCCACCAGCCCCCTGGACCAGCAGGACGTGAAGCCCGGGCGCGAAGACC
201894078	441064	NM_000083.2(CLCN1):c.1876C>T (p.Arg626Ter)	CLCN1	Mar 26, 2014	MedGen:CN517202	not provided	germline	7	143342451	GTTTCAGCTTCTTACACATATGGGGAGTTGCGAACCCTGCTCCAGACCACCACAGTCAAGA
121908003	18864	NM_000017.3(ACADS):c.136C>T (p.Arg46Trp)	ACADS	Jun 30, 2017	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007;MedGen:CN517202	Deficiency of butyryl-CoA dehydrogenase;not provided	germline;unknown	12	120727115	GAGACACACCAGATGTTGCTCCAGACATGCCGGGACTTTGCCGAGAAGGAGTTGTTTCCCA
74503222	108557	NM_000277.2(PAH):c.745C>T (p.Leu249Phe)	PAH	May 26, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852912	GGTTTCCGCCTCCGACCTGTGGCTGGCCTGCTTTCCTCTCGGGATTTCTTGGGTGGCCTGG
757130394	212148	NM_014946.3(SPAST):c.1417C>T (p.Gln473Ter)	SPAST	May 18, 2015	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32137112	AATTGAAAAAAGATTTTTTGCTTGTAGGTACAGTCTGCTGGAGATGACAGAGTACTTGTAA
397515461	76938	NM_012472.5(LRRC6):c.562C>T (p.Gln188Ter)	LRRC6	Aug 08, 2013	MedGen:C3543826,OMIM:614935	Ciliary dyskinesia, primary, 19	germline	8	132632831	CTTAAACGAGCCAAACTCAAGGAAGAGGCTCAGAGGAAACACCAAGAAGAGGATAAAAATG
1057518674	361157	NM_020699.3(GATAD2B):c.694C>T (p.Gln232Ter)	GATAD2B	Apr 30, 2014	MedGen:C3554448,OMIM:615074,Orphanet:ORPHA363686	Mental retardation, autosomal dominant 18	de novo	1	153818075	CTATCTAAGCTTCCCTCTCGGCCTGGGGCCCAAGGGGTTGAACCTCAAAATTTGAGAACAT
724159949	171866	NM_001396.3(DYRK1A):c.613C>T (p.Arg205Ter)	DYRK1A	Nov 29, 2017	MedGen:C3276611;Human Phenotype Ontology:HP:0000490,MedGen:C0014306;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:CN517202	Absent or delayed speech development;Deeply set eye;Feeding difficulties;Intellectual disability;Intellectual disability;Mental retardation, autosomal dominant 7;Microcephaly;not provided	de novo;germline	21	37486563	GCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACA
72551364	23181	NM_138712.3(PPARG):c.1189C>T (p.Arg397Cys)	PPARG	Jan 01, 2002	MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083	Familial partial lipodystrophy 3	germline	3	12433900	GTTGTGTTTTCCATATGTGCTTCCCCAGACCGCCCAGGTTTGCTGAATGTGAAGCCCATTG
886042253	266121	NM_003482.3(KMT2D):c.11713C>T (p.Gln3905Ter)	KMT2D	Jul 20, 2015	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49032992	GGCTCTTTACAGCAGCTTCAGCAGCAGCAGCAGCTGCAACAGCAACAGCAACTTCAGCAGC
121908854	21513	NM_001277115.1(DNAH11):c.8533C>T (p.Arg2845Ter)	DNAH11	Sep 15, 2011	MedGen:C2678473,OMIM:611884	Ciliary dyskinesia, primary, 7	germline	7	21748602	TTCCTCAGGTGTCGCATCAGCCGGATCTTACGAACCCCTCAGGGCTGTGCTCTCTTGGTTG
387906804	39133	NM_006765.3(TUSC3):c.163C>T (p.Gln55Ter)	TUSC3	Aug 01, 2011	MedGen:C1970197,OMIM:611093	Mental retardation, autosomal recessive 7	germline	8	15623104	TTGCAGAATCTTTTAGCTGAAAAAGTAGAGCAGCTGATGGAATGGAGTTCCAGACGCTCAA
727503007	176448	NM_001399.4(EDA):c.676C>T (p.Gln226Ter)	EDA	Aug 21, 2014	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468	Hypohidrotic ectodermal dysplasia	germline	X	70028006	CCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTG
794729667	199855	NM_001693.3(ATP6V1B2):c.1516C>T (p.Arg506Ter)	ATP6V1B2	Nov 01, 2014	MedGen:C2675730,OMIM:124480,Orphanet:ORPHA79499	Deafness, congenital, with onychodystrophy, autosomal dominant	germline	8	20220382	CCTCAGAGCACCCTCAGCGAATTTTACCCTCGAGACTCTGCAAAGCATTAGCTGCTGCTTC
80356459	23348	NM_005982.3(SIX1):c.328C>T (p.Arg110Trp)	SIX1	Aug 27, 2009	MedGen:C1842124,OMIM:608389	Branchiootic syndrome 3	germline	14	60648862	GGCCGACCCCTGGGCGCCGTGGGCAAATATCGGGTGCGCCGAAAATTTCCACTGCCGCGCA
62541771	21074	NM_001128227.2(GNE):c.1985C>T (p.Ala662Val)	GNE	May 01, 2017	MedGen:C1833373,OMIM:600737;MedGen:C1853926,OMIM:605820;MedGen:C0342853,OMIM:269921,Orphanet:ORPHA3166,SNOMED CT:238051008;MedGen:CN517202	Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not provided	germline;unknown	9	36218224	CTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCAT
80338917	23079	NM_003221.3(TFAP2B):c.898C>T (p.Arg300Cys)	TFAP2B	Jan 02, 2013	MedGen:C1868570,OMIM:169100,Orphanet:ORPHA46627	Char syndrome	germline	6	50838051	AAAATCGGTTTGAATTTACCCGCGGGCAGGCGCAAAGCAGCAAATGTCACGTTACTCACCT
863224483	212928	NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)	MYBPC3	May 02, 2015	MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy	germline	11	47339653	CCCACTGTGATCTGGCAGAAGGCTATCACGCAGGTACTGTGGGTCCCTCCTCAGTCTCCCC
137854501	24533	NM_005502.3(ABCA1):c.6241C>T (p.Arg2081Trp)	ABCA1	Jul 27, 2001	MedGen:C0039292,OMIM:205400,Orphanet:ORPHA31150	Tangier disease	germline	9	104786940	CCCACCACAGGCATGGATCCCAAAGCCCGGCGGTTCTTGTGGAATTGTGCCCTAAGTGTTG
137854604	24422	NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu)	SCN5A	Feb 02, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144;MedGen:CN230736;MedGen:C2751898,OMIM:603829;EFO:EFO_0004287,MedGen:C0042510,SNOMED CT:71908006;MedGen:CN517202	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation 1;Ventricular fibrillation;not provided	germline;unknown	3	38551243	GCATGCTGTGCCTCTTCCAGATCACCACGTCGGCCGGCTGGGATGGCCTCCTCAGCCCCAT
202179988	68353	NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp)	CFTR	Sep 29, 2016	MedGen:C0403814,OMIM:277180,Orphanet:ORPHA48;MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202	Congenital bilateral absence of the vas deferens;Cystic fibrosis;not provided	germline	7	117611649	AAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACA
876659872	234370	NM_000051.3(ATM):c.8287C>T (p.Arg2763Ter)	ATM	Apr 21, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108343240	CTGTAACTCCAGGTGGTTCCCCTCTCTCAGCGAAGTGGTGTTCTTGAATGGTGCACAGGAA
886037721	248825	NM_177438.2(DICER1):c.5053C>T (p.Q1685*)	DICER1	Nov 10, 2014	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	germline	14	95095867	TACAGATTCAAGAATAAGGCTTACCTTCTCCAGGCTTTTACACATGCCTCCTACCACTACA
587783564	169935	NM_178151.2(DCX):c.55C>T (p.Arg19Ter)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410344	GACGAAAGAGATAAGACATCCAGGAACATGCGAGGCTCCCGGATGAATGGGTTGCCTAGCC
930688767	481983	NM_001277269.1(OTOG):c.5092C>T (p.Gln1698Ter)	OTOG	Jan 11, 2018	MedGen:CN517202	not provided	germline	11	17610356	ATAAGCAGGACAGGGGTCCCCCAGCCCACCCAGGCCCAGAGTGCTTCAAGTCCCAGCACCC
1064794223	411097	NM_178153.2(DCX):c.505C>T (p.Gln169Ter)	DCX	Mar 17, 2017	MedGen:CN517202	not provided	germline	X	111401190	CCCCAGTCCTTGGCTAGCAGCAACAGTGCACAGGCCAGGGAGAACAAGGACTTTGTGCGCC
756457861	170942	NM_030777.3(SLC2A10):c.685C>T (p.Arg229Ter)	SLC2A10	Nov 08, 2016	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342;MedGen:CN118826,Orphanet:ORPHA91387	Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection	germline	20	46725721	CTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGG
766891274	429189	NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys)	KCNJ11	Mar 01, 2016	MedGen:C0027773,OMIM:601820,SNOMED CT:42681006	Islet cell hyperplasia	germline	11	17387686	GAGGTCCAAGTGACTATTGGCTTTGGGGGGCGCATGGTGACTGAGGAGTGCCCACTGGCCA
775865076	421364	NM_015311.2(OBSL1):c.2032C>T (p.Gln678Ter)	OBSL1	Oct 28, 2015	MedGen:CN517202	not provided	germline	2	219566932	CTGCGGTACCGTATAGAGCAGAAGGGTCTGCAGCACAGACTCATCCTGCATGCCGTCAAGC
869025292	223293	NM_015160.2(PMPCA):c.287C>T (p.Ser96Leu)	PMPCA	Oct 12, 2016	MedGen:C1859298,OMIM:213200,Orphanet:ORPHA1170	Spinocerebellar ataxia, autosomal recessive 2	germline	9	136412502	TTTTCTTTTTACTACTAGTTCTTATCAATTCAGGATCGAGATATGAAGCGAAATACCTTAG
397514637	48581	NM_001080463.1(DYNC2H1):c.988C>T (p.Arg330Cys)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:CN674505;MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Jeune thoracic dystrophy;Short-rib polydactyly syndrome type III;Short-rib thoracic dysplasia 3 with or without polydactyly	germline;maternal;unknown	11	103117852	TTTCCAGAAACACTTGACAAACTTGGCAAACGCCTTGAAGAGGTATCAATTTGATTATCTA
122454128	26696	NM_004586.2(RPS6KA3):c.2065C>T (p.Gln689Ter)	RPS6KA3	Jan 01, 1999	MedGen:C0265252,OMIM:303600,SNOMED CT:15182000	Coffin-Lowry syndrome	germline	X	20156144	ATCGTCCACTGGGACCAACTGCCACAATACCAACTAAACAGACAGGATGCACCACATCTAG
587777894	166563	NM_004958.3(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR	May 25, 2017	MeSH:D015179,MedGen:CN236642;MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;MeSH:C538614,MedGen:C1336078;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;MeSH:D002583,MedGen:CN236667;MedGen:CN517202	Colorectal Neoplasms;Focal cortical dysplasia type II;Glioblastoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;Uterine cervical neoplasms;not provided	somatic	1	11124516	TTAACACCCTTCTGGCCAATGACCCAACATCTCTTCGGAAAAACCTCAGGTATTCAGAAAC
886039790	260551	NM_012343.3(NNT):c.211C>T (p.Arg71Ter)	NNT	Oct 11, 2016	MedGen:C3553587,OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	germline	5	43612967	GTCCCCAAAGAGATATTCCAAAATGAGAAGCGAGTGGCATTGTCTCCTGCTGGTGTTCAGA
121909564	33070	NM_000488.3(SERPINC1):c.1382C>T (p.Pro461Leu)	SERPINC1	Sep 06, 2017	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173903902	CTATTATCTTCATGGGCAGAGTAGCCAACCCTTGTGTTAAGTAAAATGTTCTTATTCTTTG
768345097	186768	NM_019098.4(CNGB3):c.646C>T (p.Arg216Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline;unknown	8	86667131	TGGATTTCACCACTTGCTGTTTTTCCAGATCGACTCTATCTCCTGTGGCTCTTGCTTGTCA
146733615	172511	NM_206933.2(USH2A):c.14803C>T (p.Arg4935Ter)	USH2A	Aug 18, 2016	MedGen:C3151138,OMIM:613809;MedGen:C3151138,OMIM:613809;MedGen:C1848634,OMIM:276901;MedGen:C1848634,OMIM:276901	Retinitis pigmentosa 39;Retinitis pigmentosa 39;Usher syndrome, type 2A;Usher syndrome, type 2A	germline;unknown	1	215640723	TACAACTTTCTCCCCACAGTGCCTCAGTACCGAGCCCCATTTTCGGTGGACAGCAATTTGT
398122418	94557	NM_019066.4(MAGEL2):c.3124C>T (p.Gln1042Ter)	MAGEL2	May 27, 2016	MedGen:C3809877,OMIM:615547,Orphanet:ORPHA398069;MedGen:CN517202	Schaaf-yang syndrome;not provided	de novo;germline	15	23644619	TTAGTCAAGGACCAAGCCAAGGTGCCTGTCCAGCGCTCGGAGATGGTGAAAGTCATCCTCC
28934594	27137	NM_000196.3(HSD11B2):c.835C>T (p.Arg279Cys)	HSD11B2	Aug 01, 1998	MedGen:C2936861,OMIM:218030	Apparent mineralocorticoid excess	germline	16	67436620	TCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTC
-1	481821	NM_017780.3(CHD7):c.3859C>T (p.Gln1287Ter)	CHD7	Dec 20, 2017	MedGen:CN517202	not provided	germline	8	60836153	TCTCCAGATTTTCAGCTCCAGGCAATGATCCAGGCTGCTGGCAAGCTAGTGCTGATTGACA
750903875	474531	NM_005431.1(XRCC2):c.49C>T (p.Arg17Ter)	XRCC2	May 30, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	152660773	CCTTCTCTCTTCTTTTATAAGCTCCTTGCCCGACTTGAAGGTAGAAGTTCCTTGAAAGAAA
11466112	29084	NM_002506.2(NGF):c.661C>T (p.Arg221Trp)	NGF	Feb 01, 2011	MedGen:C0020075,OMIM:608654,Orphanet:ORPHA64752,SNOMED CT:128206006	Congenital sensory neuropathy with selective loss of small myelinated fibers	germline	1	115286135	CTGACCATGGATGGCAAGCAGGCTGCCTGGCGGTTTATCCGGATAGATACGGCCTGTGTGT
121917788	27080	NM_001018115.2(FANCD2):c.958C>T (p.Gln320Ter)	FANCD2	Feb 01, 2001	MedGen:C3160738,OMIM:227646	Fanconi anemia, complementation group D2	germline	3	10043119	TGTGTTTTGCCATCACGGTTACAGGCTTCCCAAGTAAAGTTGAAAAGTAAAGGACGAGCAA
-1	426440	NM_198270.3(NHS):c.553C>T (p.Gln185Ter)	NHS	Jun 08, 2017	MedGen:CN517202	not provided	germline	X	17376310	CAGCGCGTCCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCGTGAGTACCCGCGCCGTC
121908547	20943	NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	SCN4A	Jun 14, 2017	MedGen:CN074266,OMIM:170500;MedGen:C1868617,OMIM:168300;MedGen:CN517202	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	germline;maternal;unknown	17	63943825	TATACTTAGGGGGGAAAGACATCTTTATGACGGAGGAACAGAAGAAATACTATAACGCCAT
587782574	152309	NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter)	BRIP1	Jul 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	61743015	GGAATTCCTTTTCCAAATGTGAAAGATCTACAGGTAGGCCATCAAAACCTTAAGTTTTATT
886039261	259357	NM_001242896.1(DEPDC5):c.1555C>T (p.Gln519Ter)	DEPDC5	Mar 03, 2017	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31815101	CGCACACTGCCCACTGAGGAAGTGAGGAGCCAGGCTTCTGACGACAGCTCCCTAGGCAAGA
-1	485878	NM_006088.5(TUBB4B):c.1171C>T (p.Arg391Cys)	TUBB4B	Feb 16, 2018	MedGen:CN807950,OMIM:617879	LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS	germline	9	137243389	ATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCG
1800575	27674	NM_000458.3(HNF1B):c.529C>T (p.Arg177Ter)	HNF1B	Dec 01, 1997	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	Familial hypoplastic, glomerulocystic kidney	germline	17	37739455	GCTCTGTACACCTGGTACGTCAGAAAGCAACGAGAGATCCTCCGACGTAAGTGTTTTCATC
786201032	181576	NM_001025295.2(IFITM5):c.119C>T (p.Ser40Leu)	IFITM5	Dec 28, 2015	MedGen:C1970414,OMIM:610967,Orphanet:ORPHA216828;MedGen:CN517202	Osteogenesis imperfecta type 5;not provided	germline	11	299372	ACCCCCCGCCTCGAGACCACTTGATCTGGTCGGTGTTCAGCACCCTCTACCTGAATCTGTG
28940306	17236	NM_001145809.1(MYH14):c.3049C>T (p.Leu1017Phe)	MYH14	Apr 01, 2004	MedGen:C1833503,OMIM:600652	Deafness, autosomal dominant 4	germline	19	50271424	GCCTTCCCACCCCAGGAGCTAGAGGCCCACCTTGAGGCTGAGGAGGGTGCGCGGCAGAAGC
121908137	19452	NM_020919.3(ALS2):c.2992C>T (p.Arg998Ter)	ALS2	Feb 10, 2011	MedGen:C1846588,OMIM:607225	Infantile-onset ascending hereditary spastic paralysis	germline	2	201726854	GTTACTTTTTGCTCCTAGACAAAGTGGCTACGAGCTATAAGCCAAGCCGTAGATCAGGCTT
202210819	133696	NM_018474.5(KIZ):c.226C>T (p.Arg76Ter)	KIZ	Apr 03, 2014	MedGen:C4014312,OMIM:615780	Retinitis pigmentosa 69	germline	20	21136463	ATATGTGAATCTGAAAAGAAGGCTCATACTCGAAACCAAGAATATTTAAAGCGATTTGAGC
758355520	186876	NM_000053.3(ATP7B):c.3818C>T (p.Pro1273Leu)	ATP7B	Aug 14, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51937561	CCATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCCAGGCAGACATGGGTGTGGC
80356932	69850	NM_007294.3(BRCA1):c.4372C>T (p.Gln1458Ter)	BRCA1	May 18, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline;somatic	17	43076600	CTCATTCCATTTAAAGCAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGA
863225357	214727	NM_000038.5(APC):c.4645C>T (p.Gln1549Ter)	APC	-	MedGen:CN517202	not provided	unknown	5	112840239	TCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATT
121912651	27386	NM_000546.5(TP53):c.742C>T (p.Arg248Trp)	TP53	Sep 27, 2017	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006739,MedGen:C0553723;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Brainstem glioma;Carcinoma of esophagus;Chronic lymphocytic leukemia;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Multiple myeloma;Myelodysplastic syndrome;Neoplasm;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Small cell lung cancer;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;not provided	germline;somatic;unknown	17	7674221	TGTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCACACTGG
886041135	265154	NM_000047.2(ARSE):c.1711C>T (p.Gln571Ter)	ARSE	Oct 24, 2016	MedGen:CN517202	not provided	germline	X	2934891	AGGCTGGGCAACATCTGGAGACCGTGGCTGCAGCCCTGCTGTGGCCCGTTCCCCCTCTGCT
186031457	259751	NM_000532.4(PCCB):c.337C>T (p.Arg113Ter)	PCCB	Oct 20, 2016	MedGen:CN517202	not provided	germline	3	136256588	CCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCA
104894195	19927	NM_003977.3(AIP):c.910C>T (p.Arg304Ter)	AIP	Jun 21, 2012	MedGen:C0346302,OMIM:102200,Orphanet:ORPHA96256,SNOMED CT:254957009	Somatotroph adenoma	germline	11	67490910	CTGGACCCAGCCCTGGCGCCTGTGGTGAGCCGAGAGCTGCGGGCCCTGGAGGCACGGATCC
766551411	427446	NM_001009944.2(PKD1):c.12010C>T (p.Gln4004Ter)	PKD1	Oct 03, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	16	2090802	AGCAGACAGATTTCTCGTCCGCAGGCTGCCCAGCAGCTACGCTTCGTGCGCCAGTGGTCCG
76539814	19345	NM_001005741.2(GBA):c.1085C>T (p.Thr362Ile)	GBA	May 01, 2013	MedGen:C0268250,OMIM:230900,Orphanet:ORPHA77260,SNOMED CT:12246008;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Acute neuronopathic Gaucher's disease;Gaucher's disease, type 1	germline	1	155236384	ACCTGGACTTTCTGGCTCCAGCCAAAGCCACCCTAGGGGAGACACACCGCCTGTTCCCCAA
28999112	33358	NM_001614.3(ACTG1):c.833C>T (p.Thr278Ile)	ACTG1	Dec 01, 2003	MedGen:C1858172,OMIM:604717	Deafness, autosomal dominant 20	germline	17	81511078	GTATGGAATCTTGCGGCATCCACGAGACCACCTTCAACTCCATCATGAAGTGTGACGTGGA
886041847	264070	NM_015265.3(SATB2):c.1285C>T (p.Arg429Ter)	SATB2	Jun 30, 2016	MedGen:CN517202	not provided	germline	2	199328799	CAGAATTTCCTCAATCTGCCAGAAGTGGAGCGAGATCGCATCTACCAGGATGAGAGGGAGC
387907110	40068	NM_018699.3(PRDM5):c.1768C>T (p.Arg590Ter)	PRDM5	Jun 10, 2011	MedGen:C3280011,OMIM:614170	Brittle cornea syndrome 2	germline	4	120695236	TTGGCTTTTAGCCTGAAGAAAATGCTGATTCGACACAAGATGACTCATAATCCCAATCGTC
387907008	39729	NM_005461.4(MAFB):c.212C>T (p.Pro71Leu)	MAFB	Mar 09, 2012	MedGen:C2674705,OMIM:166300,Orphanet:ORPHA2774	Multicentric osteolysis nephropathy	germline	20	40688639	GCACTCCGTGTAGCTCCGTGCCCTCGTCGCCCAGCTTCAGCCCGACCGAACAGAAGACACA
797045085	205156	NM_001277115.1(DNAH11):c.8746C>T (p.Gln2916Ter)	DNAH11	Aug 01, 2014	MedGen:C2678473,OMIM:611884	Ciliary dyskinesia, primary, 7	germline	7	21749750	ATGCCCACTGTGTTCCTGCTGACAGATGCCCAGGTTCTAGATGAGAGCTTCCTCGTGCTGA
1057517977	359394	NM_001271208.1(NEB):c.9046C>T (p.Arg3016Ter)	NEB	Nov 10, 2016	MedGen:CN517202	not provided	germline	2	151636283	GAAGAAGCAAAGAAGAAAGGCTATGACTTGCGAAGCGACGCCATCCCCATCGTGGCGGCCA
199422311	47523	NM_001099274.1(TINF2):c.847C>T (p.Pro283Ser)	TINF2	Jun 01, 2015	MedGen:C1851970,OMIM:127550;MedGen:CN517202	Dyskeratosis congenita autosomal dominant;not provided	germline	14	24240633	GCCTCCACTAGGGGAGGCCATAAGGAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGAATC
140709867	106534	NM_025233.6(COASY):c.1495C>T (p.Arg499Cys)	COASY	Jan 02, 2014	MedGen:C3810230,OMIM:615643,Orphanet:ORPHA397725	Neurodegeneration with brain iron accumulation 6	germline	17	42565668	AAATGTCTCGTCTGTGCTCAGGCTGTAAGACGCATTGTGGAGAGGGATGGCCTCAGTGAAG
587777686	164077	NM_006904.6(PRKDC):c.10721C>T (p.Ala3574Val)	PRKDC	Jul 01, 2013	MedGen:C4014833,OMIM:615966,Orphanet:ORPHA317425	Immunodeficiency 26 with or without neurologic abnormalities	germline	8	47789188	AAGGAGGAGTGATTCAAGATTTTATTAATGCCTTAGATCAGCTCTCTAATCCTGAACTGCT
28937869	20652	NM_007255.2(B4GALT7):c.808C>T (p.Arg270Cys)	B4GALT7	Nov 29, 2016	MedGen:C1869122,OMIM:130070,Orphanet:ORPHA75496;MedGen:C1855536,OMIM:245600;MedGen:CN517202	Ehlers-Danlos syndrome progeroid type;Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects;not provided	germline;inherited	5	177608994	GACCCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAGGTGCTGGCAG
387906946	39551	NM_020634.2(GDF3):c.820C>T (p.Arg274Trp)	GDF3	Jan 15, 2010	MedGen:C3150968,OMIM:613703	Microphthalmia, isolated, with coloboma 6	germline	12	7690153	TGCCACCGTCACCAGCTATTCATTAACTTCCGGGACCTGGGTTGGCACAAGTGGATCATTG
764389018	186800	NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter)	ATM	Mar 27, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	11	108301658	ATTTGAATTGTTTTTTTCAGTGTCAAAGTTCGATCAGCAGCTGTTACCTGTTTGAAAAACA
-1	458971	NM_017780.3(CHD7):c.604C>T (p.Gln202Ter)	CHD7	Mar 10, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60742036	TATATGGCACGTGGGGATTTTTCCATGCAGCAGCATGGTCAGCCACAGCAGAGGATGAGCC
886042195	265830	NM_001128227.2(GNE):c.2008C>T (p.Gln670Ter)	GNE	Jul 15, 2015	MedGen:C1833373,OMIM:600737	Inclusion body myopathy 2	germline	9	36218201	CAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAGGTGAGCATGTGG
61751397	105086	NM_000350.2(ABCA4):c.3085C>T (p.Gln1029Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94043441	ACGGTGGCTGAGCACATGCTGTTCTATGCCCAGCTGAAAGGAAAGTCCCAGGAGGAGGCCC
59793293	31210	NM_002055.4(GFAP):c.235C>T (p.Arg79Cys)	GFAP	Jan 17, 2017	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915252	GAGCGGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTACATCGAGAAGGTTCGCT
199473421	78266	NM_000238.3(KCNH2):c.215C>T (p.Pro72Leu)	KCNH2	Feb 12, 2015	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150974803	GACCCTGCACCTGCGACTTCCTGCACGGGCCGCGCACGCAGCGCCGCGCTGCCGCGCAGAT
121908916	21401	NM_002977.3(SCN9A):c.829C>T (p.Arg277Ter)	SCN9A	Apr 01, 2007	MedGen:C1855739,OMIM:243000,Orphanet:ORPHA88642	Indifference to pain, congenital, autosomal recessive	germline	2	166303162	TTCATGGGAAACCTGAAGCATAAATGTTTTCGAAATTCACTTGAAAATAATGAAACATTAG
863224959	213830	NM_000070.2(CAPN3):c.1714C>T (p.Arg572Trp)	CAPN3	Oct 05, 2015	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42402971	GAGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTG
886041290	264039	NM_005378.5(MYCN):c.73C>T (p.Gln25Ter)	MYCN	Aug 20, 2015	MedGen:CN517202	not provided	germline	2	15942137	AAGAACCCAGACCTCGAGTTTGACTCGCTACAGCCCTGCTTCTACCCGGACGAAGATGACT
-1	446320	NM_001396.4(DYRK1A):c.967C>T (p.Gln323Ter)	DYRK1A	Jul 05, 2017	MedGen:CN517202	not provided	germline	21	37493032	TGAAATATATTTCAGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGC
879253848	224622	NM_000255.3(MUT):c.1975C>T (p.Gln659Ter)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49435605	CTGACTGTTTAGACTCCTCGTGAAGTGGCCCAGCAGGCTGTGGATGCGGATGTGCATGCTG
267608066	95034	NM_000179.2(MSH6):c.730C>T (p.Gln244Ter)	MSH6	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47798713	AAGACACAAGGATCTAGGCGAAGTAGCCGCCAAATAAAAAAACGAAGGGTCATATCAGATT
281865143	49462	NM_001080116.1(LDB3):c.440C>T (p.Ala147Val)	LDB3	Oct 29, 2012	MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912	Myofibrillar myopathy, ZASP-related	not provided	10	86687164	CCATCGAGGTGAAGGGGCTGGGCGGCAAGGCCACCATCATCCATGCGCAGTACAACACGCC
864321635	216957	NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter)	SALL1	Jan 14, 2016	MedGen:CN034849,OMIM:107480	Townes-Brocks syndrome 1	germline	16	51139062	TTGAAGCAGCACATGTTGACACATCAGATGCGAGATCTGCCATCCCAGCTCTTTGAGCCCA
148905512	225787	NM_183050.3(BCKDHB):c.554C>T (p.Pro185Leu)	BCKDHB	Jan 01, 2010	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	6	80168951	TTAACTGTGGAAGCCTCACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCTA
121918356	22596	NM_000428.2(LTBP2):c.331C>T (p.Gln111Ter)	LTBP2	May 01, 2009	MedGen:C2751316,OMIM:613086	Glaucoma 3, primary congenital, d	germline	14	74611614	GCGGAGGCCAGGAGGCCGTCCCGCGCGCAGCAGTCGCGGCGTGTCCAGCCACCTGCGCAGA
74315312	17111	NM_020435.3(GJC2):c.268C>T (p.Pro90Ser)	GJC2	Apr 01, 2007	MedGen:C1837355,OMIM:608804,Orphanet:ORPHA280270	Leukodystrophy, hypomyelinating, 2	germline	1	228158026	TGGGTCTTCCAGATTGTGGTCATCTCCACGCCCTCGGTCATGTACCTGGGCTACGCCGTGC
111033664	36474	NM_000155.3(GALT):c.238C>T (p.Arg80Ter)	GALT	Jan 07, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	unknown	9	34647244	CCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCC
796052246	203850	NM_000026.3(ADSL):c.853C>T (p.Gln285Ter)	ADSL	Sep 14, 2012	MedGen:CN517202	not provided	germline	22	40361333	CTCAAGGAGATGGAGGAACCCTTTGAAAAACAGCAGATTGGTGAGTGCTGTGTAGAGACCT
397507544	49027	NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu)	PTPN11	Jul 10, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN517202	Noonan syndrome;not provided	germline	12	112489081	AAACCATCCAGATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAGCACAGTACCG
121909090	22319	NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)	DNM2	Feb 08, 2013	MedGen:CN221282;MedGen:C1834558,OMIM:160150,Orphanet:ORPHA169189	Myopathy, centronuclear;Myopathy, centronuclear, 1	germline	19	10793832	GGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGC
886041322	264612	NM_004572.3(PKP2):c.658C>T (p.Gln220Ter)	PKP2	Jan 30, 2017	MedGen:CN517202	not provided	germline	12	32878222	AGGCAGCGCCACTTTGACACATACCACAGACAGTACCAGCATGGCTCTGTTAGCGACACCG
1057517716	360708	NM_000390.3(CHM):c.1342C>T (p.Gln448Ter)	CHM	Nov 19, 2015	MedGen:CN517202	not provided	germline	X	85901091	TACTTTCCTGAGAACATGTGCTCACGTGTGCAATACAGGTAAGGCCCCCTCCACCCATTAG
104894065	23023	NM_000474.3(TWIST1):c.211C>T (p.Gln71Ter)	TWIST1	Jul 01, 2003	MedGen:C1867146,OMIM:180750	Robinow Sorauf syndrome	germline	7	19117111	GGAGGCGGCGACGAGCCGGGCAGCCCGGCCCAGGGCAAGCGCGGCAAGAAGTCTGCGGGCT
587784357	169813	NM_003560.3(PLA2G6):c.517C>T (p.Gln173Ter)	PLA2G6	Jul 09, 2013	Human Phenotype Ontology:HP:0012675,MedGen:C4021076	Iron accumulation in brain	germline	22	38143197	GGTGATGGGGAGATCCTGGTGGAGCTGGTGCAGTACTGCCACACTCAGATGGATGTCACCG
869312708	225882	NM_001396.3(DYRK1A):c.1639C>T (p.Gln547Ter)	DYRK1A	Feb 25, 2016	MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;MedGen:CN517202	Mental retardation, autosomal dominant 7;not provided	de novo;germline	21	37506191	CACAGTGGTGGGCACTTCACAGCTGCCGTGCAGGCCATGGACTGCGAGACACACAGTCCCC
794726778	187821	NM_001165963.1(SCN1A):c.1834C>T (p.Arg612Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166043878	GAGAGCCGTAGAGATTCCTTGTTTGTGCCCCGACGACACGGAGAGAGACGCAACAGCAACC
397516037	51905	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3	Aug 04, 2017	MedGen:CN230736;MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47332189	GAAGACGCCCGCTTCCGCATGTTCAGCAAGCAGGGAGTGTTGACTCTGGAGATTAGAAAGC
63750489	95909	NM_000249.3(MLH1):c.901C>T (p.Gln301Ter)	MLH1	Feb 05, 2015	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37020326	TATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAA
387906636	38685	NM_000834.3(GRIN2B):c.2044C>T (p.Arg682Cys)	GRIN2B	Jan 21, 2014	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	de novo;germline	12	13571931	CAGAGACCTAATGACTTCTCACCCCCTTTCCGCTTTGGGACCGTGCCCAACGGCAGCACAG
794728877	196894	NM_198056.2(SCN5A):c.3994C>T (p.Pro1332Ser)	SCN5A	Oct 17, 2012	MedGen:CN517202	not provided	germline	3	38560398	GTGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCCATCATGAACGTCCTCCTCGTCTGCC
-1	481732	NM_022455.4(NSD1):c.3481C>T (p.Gln1161Ter)	NSD1	Dec 04, 2017	MedGen:CN517202	not provided	germline	5	177211880	GTAAATCAAGTGGTGCCTAAAAAGCGGTGGCAGCGTTTAAACCAAAGGCGCACTAAACCTC
587777585	151141	NM_001167734.1(VARS2):c.1100C>T (p.Thr367Ile)	VARS2	Nov 16, 2017	MedGen:C4014660,OMIM:615917,Orphanet:ORPHA420728	Combined oxidative phosphorylation deficiency 20	germline;maternal	6	30918851	CTTCAGATGCAGAGGTTGTGGTAGGAACCACAAGGCCAGAGACGCTGCCTGGAGATGTGGC
63751428	95376	NM_000249.3(MLH1):c.184C>T (p.Gln62Ter)	MLH1	Apr 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	3	36996686	AAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTA
312262795	49683	NM_024408.3(NOTCH2):c.1147C>T (p.Pro383Ser)	NOTCH2	Feb 28, 2013	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629	Alagille syndrome 2	not provided	1	119968194	TGTCATCTGGATGATGCATGCATCAGCAATCCTTGCCACAAGGGGGCACTGTGTGACACCA
267606729	17379	NM_130468.3(CHST14):c.842C>T (p.Pro281Leu)	CHST14	Aug 01, 2010	MedGen:C1866294,OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type	germline	15	40472055	ACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTACCACCTGTGCCAGCCTTGTGCCGT
121909288	23291	NM_000020.2(ACVRL1):c.1450C>T (p.Arg484Trp)	ACVRL1	Dec 08, 2016	MedGen:C1838163,OMIM:600376;MedGen:C1832529;MedGen:CN169374	Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified	germline	12	51920831	CCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCA
797044999	205004	NM_005097.3(LGI1):c.1418C>T (p.Ser473Leu)	LGI1	Aug 27, 2015	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046	Epilepsy, lateral temporal lobe, autosomal dominant	germline	10	93797547	CCTCGTTCCAGGATATTCAGAGGATGCCATCGCGAGGATCCATGGTGTTCCAGCCTCTTCA
63751275	95488	NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp)	MLH1	May 16, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;not provided	germline;unknown	3	37048973	AGTAAAGAATGCGCTATGTTCTATTCCATCCGGAAGCAGTACATATCTGAGGAGTCGACCC
61750120	98774	NM_000350.2(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4	Mar 28, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94042767	CGCTCAATCTGGGATCTGCTCCTGAAGTATCGCTCAGGTAACAGCTGCTGCTCAGTCTCCT
-1	443828	NM_002890.2(RASA1):c.2125C>T (p.Arg709Ter)	RASA1	Sep 22, 2017	MedGen:CN517202	not provided	germline	5	87376506	AAAGGTATTGAACCAGGGTCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCATGC
587777209	108164	NM_000541.4(SAG):c.523C>T (p.Arg175Ter)	SAG	Jul 01, 2004	MedGen:C1306122,OMIM:258100,SNOMED CT:193687000	Oguchi's disease	germline	2	233328488	TCTGTGGCTGTTTCCCACAGGAGCTCCGTGCGATTACTGATCCGCAAAGTACAGCATGCCC
587784026	168498	NM_133433.3(NIPBL):c.6952C>T (p.Gln2318Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37049299	ACTCTAAATCAAGGTCTTATTCATCCAGTTCAGGTAAGCATGTTTTATGGCAGCAGCACTT
886041319	264092	NM_181457.3(PAX3):c.784C>T (p.Arg262Ter)	PAX3	Sep 02, 2016	MedGen:CN517202	not provided	germline	2	222232086	CTGGCCCAGAGGGCGAAGCTCACCGAGGCCCGAGTACAGGTACTGTTGCCCAAACCTCCGT
387906746	39012	NM_024408.3(NOTCH2):c.6622C>T (p.Gln2208Ter)	NOTCH2	Mar 06, 2011	MedGen:C0917715,OMIM:102500,SNOMED CT:63122002	Hajdu-Cheney syndrome	germline	1	119916100	GCACTATCTTTTTCTAACCTTCATGAAATGCAGCCTTTGGCACATGGGGCCAGCACTGTGC
377429225	454408	NM_005732.3(RAD50):c.676C>T (p.Gln226Ter)	RAD50	Mar 08, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132579986	TATAAGGAAAAAGCTTGTGAGATTCGTGATCAGATTACAAGTAAGGAAGCCCAGTTAACAT
201157731	211608	NM_021957.3(GYS2):c.547C>T (p.Gln183Ter)	GYS2	Jul 16, 2014	MedGen:CN517202	not provided	germline	12	21574275	AAATATGTCGTTGCCCAATTCCATGAATGGCAGGCTGGAATTGGACTGATCCTTTCTCGAG
199473168	78639	NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys)	SCN5A	Jun 23, 2015	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38585846	CTGAGGGACAGCGACTCAGGCCTGCTGCCTCGCTGGCACATGATGGACTTCTTTCATGCCT
121918293	17756	NM_017671.4(FERMT1):c.811C>T (p.Arg271Ter)	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6107570	GGCATCCAAGAGGATGAGCAGCTGCTCTTACGATTTAAATATTATTCTTTCTTCGACTTGA
80358838	66658	NM_000059.3(BRCA2):c.6025C>T (p.Gln2009Ter)	BRCA2	Feb 14, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32340380	GTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCCAAAGTATTGTTTAAAAGTA
121913619	29179	NM_002470.3(MYH3):c.533C>T (p.Thr178Ile)	MYH3	Mar 06, 2009	MedGen:C1834523,OMIM:601680,Orphanet:ORPHA1147;MedGen:C0265224,OMIM:193700,SNOMED CT:52616002	Distal arthrogryposis type 2B;Freeman-Sheldon syndrome	germline	17	10650374	CAGATCGTGAAAACCAGTCCATTCTGATCACGTAAGTATCCATGGCATAGAGTGGTTTCAT
1085307357	414312	NM_001204.6(BMPR2):c.1456C>T (p.Q486*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202552758	CTCAAGGAGACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGCACAGT
267607258	46918	NM_002437.4(MPV17):c.293C>T (p.Pro98Leu)	MPV17	May 31, 2017	MedGen:CN239328;MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229;MedGen:CN517202	MPV17-Related Disorders;Navajo neurohepatopathy;not provided	germline	2	27312576	TAATTTCTCTTCCCTAGGGGGGCTTTGCCCCGTGTTTTCTAGGCTGCTTTCTCCCACTGGT
1060503015	403820	NM_003073.4(SMARCB1):c.118C>T (p.Arg40Ter)	SMARCB1	Jun 19, 2017	MedGen:C1836327,OMIM:609322	Rhabdoid tumor predisposition syndrome 1	germline	22	23791780	TCATAGGTGGGAAACTACCTCCGTATGTTCCGAGGTTCTCTGTACAAGAGATACCCCTCAC
121434272	18643	NM_001126128.1(PROK2):c.217C>T (p.Arg73Cys)	PROK2	Sep 01, 2008	MedGen:C1857720,OMIM:610628	Kallmann syndrome 4	germline	3	71781472	AAACTGGGAGACAGCTGCCATCCACTGACTCGTAAAGTTAGTATATATATATTTGTATTCA
121913302	132347	NM_000321.2(RB1):c.1363C>T (p.Arg455Ter)	RB1	May 16, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Retinoblastoma;not provided	germline;somatic	13	48379624	CGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGTAA
797045142	205532	NM_000494.3(COL17A1):c.2816C>T (p.Thr939Ile)	COL17A1	Apr 01, 2015	MedGen:C1852551,OMIM:122400,Orphanet:ORPHA293381	Epithelial recurrent erosion dystrophy	germline	10	104039613	CAGGCGAGCAAGGCCTCCCAGGTTTCTCAACCTCAGGTAAGGGCTGAACCCCGCCCCATTC
368949613	39837	NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)	ACAD9	Aug 25, 2015	MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901;MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901	Acyl-CoA dehydrogenase family, member 9, deficiency of;Acyl-CoA dehydrogenase family, member 9, deficiency of	germline	3	128906220	ACAAGGGACTATCCGTACGAGCGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGG
121434222	18080	NM_000051.3(ATM):c.4081C>T (p.Gln1361Ter)	ATM	Aug 04, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0334634	Ataxia-telangiectasia syndrome;Mantle cell lymphoma	germline;somatic	11	108287687	TTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGT
377022708	39841	NM_014049.4(ACAD9):c.1594C>T (p.Arg532Trp)	ACAD9	Mar 04, 2016	MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901;MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901;MedGen:CN517202	Acyl-CoA dehydrogenase family, member 9, deficiency of;Acyl-CoA dehydrogenase family, member 9, deficiency of;not provided	germline	3	128910051	ACCATCATGGAGGAGCAGCTGGTACTGAAGCGGGTGGCCAACATCCTCATCAACCTGTATG
886040995	262660	NM_017780.3(CHD7):c.6079C>T (p.Arg2027Ter)	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	de novo;germline	8	60852682	TGTTTTGTGGCCATGTGTAGGCGAGTATGTCGAATGCCCGTCAAGCCAGATGATGGTAGGT
374304304	98270	NM_000048.3(ASL):c.280C>T (p.Arg94Cys)	ASL	Mar 24, 2015	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66082440	AATGATGAGGACATCCACACAGCCAATGAGCGCCGCCTGAAGGTACGACCCCTGGAGCCCC
121912503	29489	NM_005577.2(LPA):c.109C>T (p.Arg37Ter)	LPA	Dec 01, 2004	MedGen:C1835362	Lipoprotein(a) deficiency, congenital	germline	6	160650438	GATTGCTACCATGGTGATGGACAGAGTTATCGAGGCACGTACTCCACCACTGTCACAGGAA
201025290	226733	NM_003331.4(TYK2):c.1912C>T (p.Arg638Ter)	TYK2	Apr 01, 2016	MedGen:C1969086,OMIM:611521,Orphanet:ORPHA331226	Tyrosine kinase 2 deficiency	germline	19	10361817	GTGCCTGGCAGGGACCGTGGGCAGGAGCTACGAGTGGTGCTCAAAGTGCTGGACCCTAGTC
768638173	186247	NM_000267.3(NF1):c.2041C>T (p.Arg681Ter)	NF1	Nov 28, 2017	Human Phenotype Ontology:HP:0000997,MedGen:C1860335;Human Phenotype Ontology:HP:0000957,MedGen:C0221263;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;Human Phenotype Ontology:HP:0009734,MedGen:C0346326;MedGen:CN517202	Axillary freckling;Cafe-au-lait spot;Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;Optic glioma;not provided	germline;unknown	17	31226474	GCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCC
199422148	34414	NM_018136.4(ASPM):c.1990C>T (p.Gln664Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197139803	AAAAGGACAAAACCCATTATCGCTGTGGCACAGTCCAGTTTGACCTTCATAAAACCATTAA
3026906	24172	NM_001113348.1(ECE1):c.2212C>T (p.Arg738Cys)	ECE1	Jan 01, 1999	MedGen:C3151237,OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	germline	1	21220008	TCCAATTCCAAGGAGTTCTCAGAACACTTCCGCTGCCCACCTGGCTCACCCATGAACCCGC
137853148	20507	NM_006207.2(PDGFRL):c.67C>T (p.His23Tyr)	PDGFRL	Mar 02, 1995	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	8	17589479	CTCTCCTTACGTTTTGCAGTTACTGGCCAACACCTTCCCAAGAACAAGCGTCCAAAAGAAC
199476196	47880	NM_207352.3(CYP4V2):c.974C>T (p.Thr325Ile)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186201329	GTCATGAAGATATTCGAGAAGAAGTTGACACCTTCATGTTTGAGGTATTGTATATTGTTAG
121909204	22920	NM_000350.2(ABCA4):c.3083C>T (p.Ala1028Val)	ABCA4	Dec 29, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline	1	94043443	TCACGGTGGCTGAGCACATGCTGTTCTATGCCCAGCTGAAAGGAAAGTCCCAGGAGGAGGC
193186112	193447	NM_000642.2(AGL):c.256C>T (p.Gln86Ter)	AGL	Aug 25, 2017	MedGen:C1968739;MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease IIIa;Glycogen storage disease type III	germline	1	99861676	GATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCC
794727215	192058	NM_032682.5(FOXP1):c.1624C>T (p.Gln542Ter)	FOXP1	Nov 10, 2014	MedGen:C3150923,OMIM:613670	Mental retardation with language impairment and with or without autistic features	germline	3	70972583	GCAGTATGGACAGTGGATGAAGTAGAATTCCAAAAACGAAGGCCACAAAAGATCAGTGGGT
1060505036	404673	NM_001690.3(ATP6V1A):c.1012C>T (p.Arg338Cys)	ATP6V1A	Mar 27, 2017	MedGen:CN241828,OMIM:617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	germline	3	113794895	AATTTAGGAATCACACTGTCAGAGTACTTCCGTGACATGGGCTATCATGTCAGTATGATGG
886041154	264107	NM_000388.3(CASR):c.164C>T (p.Pro55Leu)	CASR	Mar 02, 2016	MedGen:CN517202	not provided	germline	3	122254353	CAGCTAAAGATCAAGATCTCAAATCAAGGCCGGAGTCTGTGGAATGTATCAGGTAAGAAGA
786205009	187411	NM_005249.4(FOXG1):c.730C>T (p.Arg244Cys)	FOXG1	Mar 29, 2011	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	de novo	14	28768009	TCCCTCAACAAGTGCTTCGTGAAGGTGCCGCGCCACTACGACGACCCGGGCAAGGGCAACT
80356704	33892	NM_000083.2(CLCN1):c.1592C>T (p.Ala531Val)	CLCN1	Apr 12, 2011	MedGen:C0027127,Orphanet:ORPHA206973	Myotonia congenita	not provided	7	143341938	CGTATTCCTGTGTCATTCTAGGAGCAGCAGCGCTGACTGGTGCCGTTTCCCACACAGTCTC
121918334	16814	NM_001191061.1(SLC25A22):c.617C>T (p.Pro206Leu)	SLC25A22	Feb 01, 2005	MedGen:C0270855,OMIM:609304,Orphanet:ORPHA1935,SNOMED CT:44423001	Early myoclonic encephalopathy	germline	11	792429	GGGATGTCCCCTTCTCTGTGGTGTACTTCCCGCTCTTTGCCAACCTGAACCAGCTGGGCCG
780697796	431671	NM_001145849.1(PROM1):c.436C>T (p.Arg146Ter)	PROM1	Jan 01, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Retinal dystrophy	unknown	4	16033377	TGTAACAAATGTGGTGGAGAAATGCACCAGCGACAGAAGGAAAATGGGCCCTTCCTGAGGA
777181377	263975	NM_002016.1(FLG):c.2218C>T (p.Arg740Ter)	FLG	Jul 20, 2016	MedGen:CN517202	not provided	germline	1	152312668	GCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTCCAGTGGTAGTCAGGCCACTGACA
141156009	39772	NM_203290.3(POLR1C):c.835C>T (p.Arg279Trp)	POLR1C	Dec 27, 2016	MedGen:C1855433,OMIM:248390;MedGen:CN517202	Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive;not provided	germline	6	43520961	GGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCC
879255249	178826	NM_004793.3(LONP1):c.2171C>T (p.Ala724Val)	LONP1	Jan 08, 2015	MedGen:C1838180,OMIM:600373,Orphanet:ORPHA1458	CODAS syndrome	germline	19	5694536	CCCTGACCGCCCAGGTGTTACGGAAATCGGCCTACAAGATTGTCAGCGGCGAGGCCGAGTC
145449046	68151	NM_000492.3(CFTR):c.2374C>T (p.Arg792Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117592541	AACATTCACCGAAAGACAACAGCATCCACACGAAAAGTGTCACTGGCCCCTCAGGCAAACT
61759860	24309	NM_001038.5(SCNN1A):c.241C>T (p.Arg81Cys)	SCNN1A	Jul 01, 2009	MedGen:C2751666,OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2	germline	12	6374543	GCCATCCGCCTGGTGTGCTCCCAGCACAACCGCATGAAGACGGCCTTCTGGGCAGTGCTGT
587783410	169018	NM_018451.4(CENPJ):c.3448C>T (p.Gln1150Ter)	CENPJ	Jun 07, 2013	MedGen:C1842109,OMIM:608393	Primary autosomal recessive microcephaly 6	germline	13	24885305	TATAAAGAGGAGGAGGAAGACCAAGACATACAGGGAGAAATCAGTCATCCTGATGGAAAGG
1135402914	425263	NM_000574.4(CD55):c.596C>T (p.Ser199Leu)	CD55	Sep 01, 2017	na	CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE	germline	1	207326769	CCTGTTGCTTTAGGTACAAATTATTTGGCTCGACTTCTAGTTTTTGTCTTATTTCAGGCAG
764042910	434237	NM_000527.4(LDLR):c.643C>T (p.Arg215Cys)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105549	CTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACA
137854542	15418	NM_000308.3(CTSA):c.323C>T (p.Ser108Leu)	CTSA	Jun 01, 1993	MedGen:C0268233,OMIM:256540,Orphanet:ORPHA351,SNOMED CT:35691006	Combined deficiency of sialidase AND beta galactosidase	germline	20	45891990	TTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCC
749439750	214328	NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter)	CEP290	Oct 13, 2017	MedGen:C1857780,OMIM:610188;MedGen:CN517202	Joubert syndrome 5;not provided	germline;unknown	12	88084768	AGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGC
267606858	20993	NM_004130.3(GYG1):c.248C>T (p.Thr83Met)	GYG1	Apr 01, 2012	MedGen:C3150754,OMIM:613507,Orphanet:ORPHA263297	Glycogen storage disease XV	germline	3	148996406	CCTTAATGAAGAGGCCAGAGTTGGGTGTCACGCTGACAAAGCTCCACTGCTGGTCGCTTAC
749099493	265491	NM_000070.2(CAPN3):c.1063C>T (p.Arg355Trp)	CAPN3	Sep 16, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42394289	CCGTTCAAAGGTGAGAAAGTGAAGCTGGTGCGGCTGCGGAATCCGTGGGGCCAGGTGGAGT
121912725	32965	NM_000039.2(APOA1):c.166C>T (p.Gln56Ter)	APOA1	Dec 01, 1994	MedGen:C4015841	Xanthelasmas, periorbital	germline	11	116837035	CTCAAAGACAGCGGCAGAGACTATGTGTCCCAGTTTGAAGGCTCCGCCTTGGGAAAACAGC
-1	443927	NM_020732.3(ARID1B):c.5722C>T (p.Gln1908Ter)	ARID1B	Sep 25, 2017	MedGen:CN517202	not provided	germline	6	157206863	ACCGAAAGCAGTAAGTTTCCCTTTGGTATCCAGCAAGCCAAAAGTCACCGGAACATCAAGC
128624225	26349	NM_000033.3(ABCD1):c.1817C>T (p.Ser606Leu)	ABCD1	Jul 24, 2017	MedGen:C1868690,OMIM:240200;MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002;MedGen:CN517202	Addison's disease;Adrenoleukodystrophy;not provided	germline	X	153743023	AGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGC
397514670	49898	NM_006772.2(SYNGAP1):c.1685C>T (p.Pro562Leu)	SYNGAP1	Aug 09, 2016	MedGen:C2675473,OMIM:612621;MedGen:CN517202	Mental retardation, autosomal dominant 5;not provided	germline	6	33440737	TCTCCCCGACCCTTCCCCCCAGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTG
140511594	39892	NM_024753.4(TTC21B):c.626C>T (p.Pro209Leu)	TTC21B	Jun 26, 2017	MedGen:C3151186,OMIM:613820	Nephronophthisis 12	germline	2	165941111	AGACTGTGAACCAGATAATCGTGAATTTTCCGAGCTTCCTTCCTGCTTTTGTTAAGAAAAT
387907055	39878	NM_152722.4(HEPACAM):c.274C>T (p.Arg92Trp)	HEPACAM	Nov 03, 2011	MedGen:C3151355,OMIM:613925;MedGen:C3151356,OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2a;Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation	germline	11	124924881	TCCATTGGCACAGAGGTCATCGGCACCCTGCGGCCTGACTATCGAGACCGTATCCGACTCT
72650700	39295	NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter)	ABCC6	May 08, 2017	MedGen:C3276161,OMIM:614473;MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:C1867450,OMIM:177850;MedGen:CN517202	Generalized arterial calcification of infancy 2;Pseudoxanthoma elasticum;Pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;not provided	germline;paternal;unknown	16	16190247	GGAGCCTTTCTGGACAGAGTCCTGGGCATCCGAGGCCAGGAGCTGGGCGCCTTGCGGACCT
137854580	15863	NM_000038.5(APC):c.1495C>T (p.Arg499Ter)	APC	Oct 02, 2017	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0017097,Orphanet:ORPHA79665,SNOMED CT:60876000;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Gardner syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112827194	ACTAATGACCACTACAGTATTACACTAAGACGATATGCTGGAATGGCTTTGACAAACTTGA
104894003	33314	NM_001101.4(ACTB):c.547C>T (p.Arg183Trp)	ACTB	Sep 27, 2016	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995;MedGen:C1846331,OMIM:607371,Orphanet:ORPHA79107	Baraitser-Winter syndrome 1;Juvenile-onset dystonia	germline	7	5528536	CATGCCATCCTGCGTCTGGACCTGGCTGGCCGGGACCTGACTGACTACCTCATGAAGATCC
137852967	19595	NM_153638.3(PANK2):c.1583C>T (p.Thr528Met)	PANK2	Jan 02, 2003	MedGen:C1846582,OMIM:607236;MedGen:C2751506;MedGen:C0018523,OMIM:234200,Orphanet:ORPHA157850,SNOMED CT:2992000	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;Neurodegeneration with brain iron accumulation 1, atypical;Pigmentary pallidal degeneration	germline;inherited	20	3918717	TATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTT
137853226	30942	NM_002070.3(GNAI2):c.535C>T (p.Arg179Cys)	GNAI2	Aug 10, 1990	MedGen:C4016392;MedGen:C1370419;MedGen:C2750844	Adrenocortical tumor, somatic;Granulosa cell tumor of the ovary;Thecoma, somatic	somatic	3	50256262	ATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACAC
121918042	28560	NM_000297.3(PKD2):c.1390C>T (p.Arg464Ter)	PKD2	Dec 01, 1997	MedGen:C2751306,OMIM:613095	Polycystic kidney disease 2	germline	4	88046712	TCTTGGCAATTTCAGCCTTTAAAGCTGATCCGATATGTCACAACTTTTGATTTCTTCCTGG
-1	481618	NM_001256850.1(TTN):c.85774C>T (p.Arg28592Ter)	TTN	Oct 13, 2017	MedGen:CN517202	not provided	germline	2	178552203	GGCCCACCATCAAAGCCCAAAGGACCCATTCGATTTGATGAAATCAAGGCTGATAGTGTCA
587784065	168329	NM_133433.3(NIPBL):c.922C>T (p.Arg308Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36975829	CAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATATCTTGCTAGATT
749232831	362479	NM_001198903.1(YY1AP1):c.724C>T (p.Gln242Ter)	YY1AP1	Feb 14, 2017	MedGen:C1865267,OMIM:602531,Orphanet:ORPHA79094	Grange syndrome	germline	1	155676562	CTGGACCCAGCACAAAGGAAGAGACTCCAGCAGCAGATGCAGCAGGTAACACTTTCCTTGG
387906674	38801	NM_000313.3(PROS1):c.1063C>T (p.Arg355Cys)	PROS1	Dec 14, 2010	MedGen:C2676728,OMIM:612336	Protein S deficiency	germline	3	93893025	GATCACTCAGCGTGGCTCCTGATTGCACTTCGTGGTGGAAAGATTGAAGTTCAGCTTAAGA
398123167	98366	NM_000143.3(FH):c.760C>T (p.Gln254Ter)	FH	Feb 28, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002;MedGen:CN517202	Fumarase deficiency;not provided	germline	1	241506147	TCTTTTCAGGAATTTAGTGGTTATGTTCAACAAGTAAAATATGCAATGACAAGAATAAAAG
794728119	197072	NM_004415.3(DSP):c.3961C>T (p.Gln1321Ter)	DSP	Aug 04, 2014	MedGen:CN517202	not provided	germline	6	7580151	CAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCA
767146880	215638	NR_029621.1(MIR204):n.37C>T	MIR204	Jun 23, 2015	MedGen:C4225233,OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract	germline	9	70810048	AGTCTTTCTTCATGTGACTCGTGGACTTCCCTTTGTCATCCTATGCCTGAGAATATATGAA
121908149	19412	NM_001243133.1(NLRP3):c.1055C>T (p.Ala352Val)	NLRP3	Nov 01, 2001	MedGen:C0268390,OMIM:191900,Orphanet:ORPHA575,SNOMED CT:15123008;MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000	Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria	germline	1	247424504	CCTCTCTGCTCATCACCACGAGACCTGTGGCCCTGGAGAAACTGCAGCACTTGCTGGACCA
5030819	224958	NM_000551.3(VHL):c.490C>T (p.Gln164Ter)	VHL	Feb 26, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:CN517202	Von Hippel-Lindau syndrome;not provided	germline	3	10149813	CCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGA
372770167	419006	NM_025139.5(ARMC9):c.259C>T (p.Arg87Ter)	ARMC9	Aug 16, 2017	MedGen:CN262509;MedGen:CN399089,OMIM:617622	ARMC9-related Joubert syndrome;JOUBERT SYNDROME 30	germline;paternal	2	231214912	CTGTGGGAGGAGCACATTTCAAGTTCCATCCGAGATGGGGACTCCTTTGCCCAGAAGCTGG
397507409	46733	NM_000059.3(BRCA2):c.8677C>T (p.Gln2893Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	germline	13	32376714	CCATATTTACCATCACGTGCACTAACAAGACAGCAAGTTCGTGCTTTGCAAGATGGTGCAG
587783711	168964	NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter)	KMT2D	Mar 13, 2015	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49050467	TCCCTGGTTCCCCAAAACTCCCCTCCTTCCCAGTGCTCTCCTCCTGCCCTACCACTGTCCG
104894804	26754	NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter)	EFNB1	Jan 30, 2015	MedGen:C0220767,OMIM:304110;MedGen:CN517202	Craniofrontonasal dysplasia;not provided	germline	X	68838684	ATTGGAGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACT
-1	428099	NM_006463.5(STAMBP):c.649C>T (p.Gln217Ter)	STAMBP	Apr 19, 2017	MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016	Microcephaly-capillary malformation syndrome	germline	2	73847660	GTGTTCCCCACCTTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGC
587783005	165807	NM_000060.4(BTD):c.701C>T (p.Thr234Ile)	BTD	-	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	germline	3	15644557	CTCTTAAAGTGGATCTCATCACCTTTGATACCCCCTTTGCTGGCAGGTTTGGCATCTTCAC
-1	432017	NM_020686.5(ABAT):c.1129C>T (p.Arg377Trp)	ABAT	Sep 12, 2017	MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007	Gamma-aminobutyric acid transaminase deficiency	germline	16	8776350	TCCAACACCCGTTCCTCATTCCAGCCCTACCGGATCTTCAACACCTGGCTGGGGGACCCGT
61750418	186754	NM_000466.2(PEX1):c.2383C>T (p.Arg795Ter)	PEX1	Oct 02, 2014	MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:88469006	Zellweger syndrome	germline;unknown	7	92501923	ACAGTACTTGTGGATCGAGCCATACATTCTCGACTCTCTCGTCAGAGTATATCCACCAGAG
886039561	259896	NM_000127.2(EXT1):c.535C>T (p.Gln179Ter)	EXT1	Jun 12, 2017	MedGen:CN517202	not provided	germline	8	118110512	CAGTATGTGCACAATTTGAGATCCAAAGTGCAGAGTCTCCACTTGTGGAACAATGGTAGGA
794728585	198010	NM_000527.4(LDLR):c.178C>T (p.Gln60Ter)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100333	GCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCA
587784245	169394	NM_000430.3(PAFAH1B1):c.1165C>T (p.His389Tyr)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2681734	AATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCA
587783509	169266	NM_004380.2(CREBBP):c.598C>T (p.Gln200Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3850497	AATAGTAACTCTGGCCATAGCTTAATTAATCAGGCTTCACAAGGGCAGGCGCAAGTCATGA
794729280	199116	NM_001256850.1(TTN):c.60076C>T (p.Arg20026Ter)	TTN	Aug 13, 2013	MedGen:CN517202	not provided	germline	2	178584552	CCAGGTGTTCCTAGTGAACCAAAGAATGCACGAGTCACCAAAGTCAACAAGGACTGTATTT
1057518203	360565	NM_003159.2(CDKL5):c.1006C>T (p.Gln336Ter)	CDKL5	Nov 03, 2016	MedGen:CN517202	not provided	germline	X	18603930	AGAAACCAAGCCGGCAAAAGTACTGCTTTGCAGTCTCACCACAGATCTAACAGCAAGGACA
137852575	24864	NM_000044.4(AR):c.178C>T (p.Gln60Ter)	AR	Mar 01, 1993	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67545324	CCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
137854573	15846	NM_000038.5(APC):c.1660C>T (p.Arg554Ter)	APC	Aug 20, 2017	MedGen:C1858438;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline	5	112828889	ATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTTGC
121918511	28283	NM_002739.4(PRKCG):c.301C>T (p.His101Tyr)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	germline	19	53889653	CTTCTCTGCCCCCAGGACCCCCGGAACAAACACAAGTTCCGCCTGCATAGCTACAGCAGCC
11547917	228150	NM_000527.4(LDLR):c.917C>T (p.Ser306Leu)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107491	GCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTC
797044994	204990	NM_032856.3(WDR73):c.940C>T (p.Gln314Ter)	WDR73	Jun 29, 2015	MedGen:C0795949,OMIM:251300	Galloway-Mowat syndrome	germline	15	84643667	GATGCCACATCTTGGGATGGAACACGGAGCCAAGATGGAACACGGAGCCAAGTAGAACCTC
869320772	227471	NM_001127178.2(PIGG):c.928C>T (p.Gln310Ter)	PIGG	Apr 29, 2016	MedGen:C4310794,OMIM:616917	Mental retardation, autosomal recessive 53	germline	4	515999	CTAGGTGATATCCGACATCCAAAGCACGTCCAACAGACGGATGTGGCTGCGACACTGGCGA
397509392	65579	NM_001130823.2(DNMT1):c.1709C>T (p.Ala570Val)	DNMT1	May 15, 2012	MedGen:C1858804,OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	germline	19	10154709	GCTTCACAGAGGACTCCCTCCTGCGACACGCGCAGTTTGTGGTGGAGCAGGTGGAGAGTTA
104894883	25738	NM_000266.3(NDP):c.302C>T (p.Ser101Phe)	NDP	Jan 01, 1997	MedGen:C0266526,OMIM:310600,SNOMED CT:15228007	Atrophia bulborum hereditaria	germline	X	43949899	CCTCCTGTCACTGCTGCCGGCCCCAGACTTCCAAGCTGAAGGCACTGCGGCTGCGATGCTC
-1	481822	NM_017780.3(CHD7):c.5968C>T (p.Gln1990Ter)	CHD7	Dec 06, 2017	MedGen:CN517202	not provided	germline	8	60852571	ACCTTTGGGGTTATTTTTGACCCTGTGAAACAGCAATTTGACTGGAACCAATTTAGAGCCT
746763506	227329	NM_001079802.1(FKTN):c.607C>T (p.Arg203Ter)	FKTN	May 06, 2016	MedGen:C2751052,OMIM:613152;MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED CT:111502003;MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED CT:111502003;MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554;MedGen:C0265221,Orphanet:ORPHA899,SNOMED CT:111504002;MedGen:CN517202	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4;Fukuyama congenital muscular dystrophy;Fukuyama congenital muscular dystrophy;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4;Walker-Warburg congenital muscular dystrophy;not provided	germline	9	105604452	GAACACATTGACAGGAAATTTGTTCCCTTCCGAAAGTTACAGTTTGGTCGTTATCCAGGAG
121912774	32697	NM_000494.3(COL17A1):c.433C>T (p.Arg145Ter)	COL17A1	Aug 01, 2000	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	germline	10	104072062	TTCCCTTGTACAGAGAGTGAAATTCGAGTTCGACTGCAGAGTGCGTCCCCATCCACCCGAT
121909746	31142	NM_000340.1(SLC2A2):c.859C>T (p.Gln287Ter)	SLC2A2	Nov 01, 2000	MedGen:C3495427,OMIM:227810,Orphanet:ORPHA2088,SNOMED CT:61598006	Fanconi-Bickel syndrome	germline	3	171005389	AGAAAAGAAAGAGAAGAAGCATCGAGTGAGCAGAAAGTCTCTATAATTCAGCTCTTCACCA
189754995	171284	NM_001851.4(COL9A1):c.1519C>T (p.Arg507Ter)	COL9A1	Jul 01, 2011	MedGen:C1852831,OMIM:614134	Stickler syndrome, type 4	germline	6	70255375	TTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAG
121907961	18947	NM_000520.5(HEXA):c.629C>T (p.Ser210Phe)	HEXA	Sep 01, 1991	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72351176	TGTTCCACTGGCATCTGGTAGATGATCCTTCCTTCCCATATGAGAGCTTCACTTTTCCAGA
28937319	24433	NM_000335.4(SCN5A):c.3890C>T (p.Pro1297Leu)	SCN5A	Oct 01, 2003	MedGen:C0037052,Orphanet:ORPHA166282,SNOMED CT:36083008;MedGen:C1837845,OMIM:608567	Sick sinus syndrome;Sick sinus syndrome 1, autosomal recessive	germline	3	38562485	CCAACACCCTGGGCTTTGCCGAGATGGGCCCCATCAAGTCACTGCGGACGCTGCGTGCACT
199474742	242675	NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter)	NF1	Oct 09, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline;unknown	17	31235728	GAATTGGCAGACTCCATGCAGACTCTCTTCCGAGGCAACAGCTTGGCCAGTAAAATAATGA
121912978	31920	NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)	CYP11B2	Jun 01, 2003	MedGen:C3463917,OMIM:610600	Corticosterone methyloxidase type 2 deficiency	germline	8	142915087	AGGTGCTGCAGAACGCCCGGGGGAGCCTGACCCTGGACGTCCAGCCCAGCATCTTCCACTA
-1	447702	NM_000143.3(FH):c.634C>T (p.Gln212Ter)	FH	May 27, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002	Fumarase deficiency	germline	1	241508707	GAAGTTCATGAAGTACTGTTACCAGGACTACAGAAGTTACATGATGCTCTTGATGCAAAAT
267607448	77110	NM_000424.3(KRT5):c.1411C>T (p.Arg471Cys)	KRT5	Sep 06, 2016	MedGen:CN517202	not provided	germline	12	52516665	CTGGCCCTGGACGTGGAGATCGCCACTTACCGCAAGCTGCTGGAGGGCGAGGAATGCAGGT
115746363	259630	NM_002016.1(FLG):c.2476C>T (p.Arg826Ter)	FLG	Sep 19, 2017	MedGen:CN517202	not provided	germline	1	152312410	GTAAGACAAGGATCCCACCATGAGCAGGCACGAGACAACTCCAGGCACTCAGCATCCCAAG
1085307843	415186	NM_024757.4(EHMT1):c.2950C>T (p.Gln984Ter)	EHMT1	Mar 29, 2017	MedGen:CN517202	not provided	germline	9	137813088	ACGCCCCTGCAGTGTGCGAGCCTCAACTCTCAGGTGTGGAGCGCTCTGCAGATGAGCAAGG
121908220	79324	NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp)	CACNA1A	Apr 25, 2016	MedGen:C1832894,OMIM:141500	Familial hemiplegic migraine type 1	germline	19	13235685	CTGAGCTTTCTCCGCCTCTTCCGAGCTGCCCGGCTCATCAAACTTCTCCGTCAGGGTTACA
199422175	34462	NM_018136.4(ASPM):c.7894C>T (p.Gln2632Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197101357	CAGGAACAGCACCAGGCTGCCATTATTATTCAGAAGCATTGTAAAGCCTTTAAAATAAGGA
1131692208	424321	NM_000527.4(LDLR):c.1427C>T (p.Pro476Leu)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113603	ACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAG
72556254	103080	NM_000531.5(OTC):c.395C>T (p.Ser132Phe)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401283	TCTTTTTCTTGGTTTGCCACAGTGTATTGTCTAGCATGGCAGATGCAGTATTGGCTCGAGT
397514263	75590	NM_005235.2(ERBB4):c.3823C>T (p.Arg1275Trp)	ERBB4	Nov 07, 2013	MedGen:C3715155,OMIM:615515;MedGen:CN517202	Amyotrophic lateral sclerosis 19;not provided	germline	2	211383719	AAATATTTTTATAAACAGAATGGGCGGATCCGGCCTATTGTGGCAGAGAATCCTGAATACC
587777093	102944	NM_052844.3(WDR34):c.1339C>T (p.Arg447Trp)	WDR34	Feb 10, 2014	MedGen:C3810200,OMIM:615633	Short-rib thoracic dysplasia 11 with or without polydactyly	germline	9	128634259	TATCTGTTTGCTGTGCGCTGGTCCCCAGTGCGGCCCTTGGTTTTTGCAGCTGCCTCTGGGA
80357123	70147	NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline;unknown	17	43057078	GTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAA
141571609	170079	NM_015922.2(NSDHL):c.757C>T (p.Gln253Ter)	NSDHL	Mar 31, 2014	MedGen:C0265267,OMIM:308050,Orphanet:ORPHA139,SNOMED CT:17608003	Child syndrome	germline	X	152867641	GTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGA
122460158	26539	NM_003159.2(CDKL5):c.2500C>T (p.Gln834Ter)	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:C1839333,OMIM:300672	Atypical Rett syndrome;Early infantile epileptic encephalopathy 2	de novo;germline	X	18628374	TGTGTGCATTCTCATCCTTTCTTTCAGAGCCAGCCATTAAAATCACTGCGCAAGTTGTTAC
121909195	22968	NM_000503.5(EYA1):c.922C>T (p.Arg308Ter)	EYA1	Sep 17, 2011	MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Melnick-Fraser syndrome	germline	8	71271802	GGTTCAGATGGGAAATCACGTGGACGGGGCCGAAGAAACAATAATCCTTCACCTCCCCCAG
759174628	230401	NM_173591.3(OTOGL):c.4987C>T (p.Arg1663Ter)	OTOGL	Jul 30, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	12	80339228	ACAGGAATCATAGACATTCATTTTGGCTTCCGATTTAACTTGTCATCCTACACAGAAGGAC
121908358	19903	NM_023067.3(FOXL2):c.295C>T (p.Gln99Ter)	FOXL2	Jul 01, 2008	MedGen:C2931135	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1	germline	3	138946428	CCGTTCTACGAGAAGAATAAGAAGGGCTGGCAAAATAGCATCCGCCACAACCTCAGCCTCA
-1	471030	NM_000268.3(NF2):c.586C>T (p.Arg196Ter)	NF2	Feb 03, 2017	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29655663	GAGAGAATTACTGCTTGGTACGCAGAGCACCGAGGCCGAGCCAGGTGAGGCCCATTCATTG
761622153	359652	NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter)	DNAH5	May 02, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN517202	Ciliary dyskinesia;not provided	germline	5	13841112	TATTTCCATAAGGTTGGATTATTAGGAATTCAGATGATATGGACACGGGATTCAGAAGAAG
121909246	23183	NM_138712.3(PPARG):c.496C>T (p.Arg166Trp)	PPARG	May 01, 2007	MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083	Familial partial lipodystrophy 3	germline	3	12392713	AAAAAAAGTAGAAATAAATGTCAGTACTGTCGGTTTCAGAAATGCCTTGCAGTGGGGATGT
-1	433111	NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe)	ACVRL1	Oct 31, 2016	MedGen:CN169374	not specified	germline	12	51915366	AGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGT
121912723	32961	NM_000039.2(APOA1):c.322C>T (p.Gln108Ter)	APOA1	Apr 01, 1991	MedGen:C0342898	Apolipoprotein A-I deficiency	germline	11	116836290	AACCTGGAAAAGGAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGA
199839578	357436	NM_138694.3(PKHD1):c.11314C>T (p.Arg3772Ter)	PKHD1	May 29, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	51648115	CCTCCCTCCTCCTATTCCCATTTCTAGAATCGAAGAGTAGAGTCCCTGGGACCTCCTTCAG
121918199	16109	NM_001127897.3(RPGRIP1L):c.757C>T (p.Gln253Ter)	RPGRIP1L	Jul 01, 2007	MedGen:C1969053,OMIM:611560	Joubert syndrome 7	germline	16	53686452	ATTGAGTTATCTCTTCTTCAGCTTCGAGAACAGCAAGCTACAGATCAAAGGTATGTTAAAA
797044992	204986	NM_032856.3(WDR73):c.703C>T (p.Gln235Ter)	WDR73	Jun 01, 2015	MedGen:C0795949,OMIM:251300	Galloway-Mowat syndrome	germline	15	84645651	AGATGGTGTGCTGAAGTTGGGAGCTGGGGCCAGGGCCCTGGGCCCAGCATTGCCAGCCTTG
864321630	216919	NM_004606.4(TAF1):c.1786C>T (p.Pro596Ser)	TAF1	Mar 16, 2017	MedGen:C4225418,OMIM:300966;MedGen:CN517202	Mental retardation, X-linked, syndromic 33;not provided	germline	X	71382821	TGGAATCTCTCCAATGATGAGTATTATTATCCCAAGCAACAGGGTCTTCGAGGCACCTTTG
397518480	94337	NM_005765.2(ATP6AP2):c.345C>T (p.Ser115=)	ATP6AP2	Aug 15, 2013	MedGen:C3806722,OMIM:300911,Orphanet:ORPHA363654	Parkinsonism with spasticity, X-linked	germline	X	40597293	TCTTGACAGTGTTGCAAATTCCATTCACTCCTTATTTTCTGAGGAAACTCCTGTTGTTTTG
748555510	213228	NM_003119.3(SPG7):c.1408C>T (p.Arg470Ter)	SPG7	Mar 04, 2015	MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013	Spastic paraplegia 7	germline	16	89544731	ATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCC
-1	425695	NM_080680.2(COL11A2):c.190C>T (p.Arg64Ter)	COL11A2	Jun 15, 2017	MedGen:CN517202	not provided	germline	6	33189362	TGTCCAGCTGATGTGGCCTACCGAGTGGCACGACCTGCCCAGCTCAGTGCACCCACTCGCC
121964964	15158	NM_000071.2(CBS):c.341C>T (p.Ala114Val)	CBS	Mar 01, 2017	Human Phenotype Ontology:HP:0002156,MedGen:C0019880;MedGen:C3150344,OMIM:236200;MedGen:CN068394;MedGen:CN517202	Homocystinuria;Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive;not provided	germline;unknown	21	43066353	TCCCAGTGGCCAAGTGTGAGTTCTTCAACGCGGGCGGGAGCGTGAAGGACCGCATCAGCCT
587779779	133699	NM_001171155.1(PET100):c.142C>T (p.Gln48Ter)	PET100	Sep 12, 2016	Human Phenotype Ontology:HP:0004902,MedGen:C4025276;MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000;MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Congenital lactic acidosis;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	biparental;germline	19	7631476	CTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTAC
587783458	168637	NM_017780.3(CHD7):c.7957C>T (p.Arg2653Ter)	CHD7	Aug 08, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline	8	60862322	GGAGAAGAAAGGGTGCCTGTTGTCAATAAACGAAATGGGAAGAAGGTAAACGCTGGGAAAG
879255236	65654	NM_018684.3(ZC4H2):c.637C>T (p.Arg213Trp)	ZC4H2	May 02, 2013	MedGen:C0796200,OMIM:314580,Orphanet:ORPHA3454	Wieacker syndrome	germline	X	64917821	TGCCCTCTTTGCAAGGCCAAGAGTCGGTCCCGGAACCCCAAAAAGCCGAAACGGAAGCAGG
137852945	19149	NM_138694.3(PKHD1):c.9053C>T (p.Ser3018Phe)	PKHD1	Mar 01, 2002	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51748563	ATGTGTCAGCAGGATCCTGGATCATATCATCTACTCTGCACCAGAGCTGTGGCGGGGGCAT
796053166	443004	NM_021007.2(SCN2A):c.5644C>T (p.Arg1882Ter)	SCN2A	Jul 18, 2017	MedGen:CN517202	not provided	germline	2	165389450	ATGGATGCCCTTCGAATACAGATGGAAGAGCGATTCATGGCATCAAACCCCTCCAAAGTCT
180177299	200588	NM_000030.2(AGXT):c.956C>T (p.Pro319Leu)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878035	CCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGG
111033418	57519	NM_206933.2(USH2A):c.10759C>T (p.Gln3587Ter)	USH2A	Nov 07, 2017	MedGen:C1848634,OMIM:276901;MedGen:CN517202	Usher syndrome, type 2A;not provided	germline	1	215780023	CTACGTCTTCAGGTAGTTGCAGCTACTACCCAAGGAGTTCCGGAGAGCATCCTGCCACCAA
1057516110	353993	NM_172107.3(KCNQ2):c.1073C>T (p.Ser358Phe)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63433854	CCACCAACCTCTCGCGCACAGACCTGCACTCCACGTGGCAGTACTACGAGCGAACGGTCAC
121913578	29317	NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu)	MTR	Mar 28, 2016	MeSH:D030342,MedGen:C0950123;Human Phenotype Ontology:HP:0002187,MedGen:C0020796;MedGen:C1855128,OMIM:250940,Orphanet:ORPHA2170;MedGen:CN228288;MedGen:CN517202	Inborn genetic diseases;Intellectual disability, profound;METHYLCOBALAMIN DEFICIENCY, cblG TYPE;Seizure disorder;not provided	germline	1	236895470	TGCGCAGGCTGCGGTACAAGGGCATCCGCCCGGCTCCTGGCTACCCCAGCCAGCCCGACCA
202247809	46963	NM_014252.3(SLC25A15):c.847C>T (p.Leu283Phe)	SLC25A15	May 31, 2012	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	not provided	13	40809608	ATGATTCGAGCATTCCCTGCCAATGGAGCACTCTTTTTGGCCTACGAATATAGCAGGAAGT
754818927	248867	NM_177438.2(DICER1):c.1870C>T (p.R624*)	DICER1	Aug 03, 2016	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	germline	14	95115704	TATGTGTTGAGGCCTGACGATGGTGGTCCACGAGTCACAATCAACACGGCCATTGGACACA
369957508	360212	NM_016630.6(SPG21):c.736C>T (p.Arg246Ter)	SPG21	Jun 26, 2015	MedGen:CN517202	not provided	germline	15	64965394	GAAGAAATGTACAAGCTGTATCCTAATGCCCGAAGAGCTCATCTGAAAACAGGAGGCAATT
121912462	29772	NM_000213.4(ITGB4):c.1660C>T (p.Arg554Ter)	ITGB4	Apr 01, 1998	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403	Epidermolysis bullosa junctionalis with pyloric atresia	germline	17	75736053	CATCTCCCTTCCTTGTCCCTCTCTGCAGACCGAGGACGCTGCTCCATGGGCCAGTGTGTGT
571919972	239728	NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter)	DNAH5	Aug 11, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13758881	GATGACAAGCAGGCGGAACTTGACGTGGTGCAGGCTGAGTATGAACAGGCCATGACTGAAA
554294508	404695	NM_001440.3(EXTL3):c.1382C>T (p.Pro461Leu)	EXTL3	Apr 05, 2017	MedGen:CN241841,OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	germline	8	28717441	TCTTCGAAGCCCTGGAAGTCGGTGCCGTCCCGGTGGTGCTGGGGGAGCAGGTCCAGCTTCC
587784187	168261	NM_022455.4(NSD1):c.6307C>T (p.Gln2103Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177292002	GAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAA
587784397	167989	NM_006516.2(SLC2A1):c.847C>T (p.Gln283Ter)	SLC2A1	Sep 17, 2014	MedGen:CN030711,OMIM:606777	GLUT1 deficiency syndrome 1	de novo;germline	1	42929613	CTCATCGCTGTGGTGCTGCAGCTGTCCCAGCAGCTGTCTGGCATCAACGCTGTGAGTGCCC
863223655	210319	NM_000214.2(JAG1):c.2230C>T (p.Arg744Ter)	JAG1	Jan 04, 2017	MedGen:CN517202	not provided	germline	20	10644977	GGTGGTCGTGTCTGCTCTTCTTTTATAGCCCGAAACAGTAGCTGCCTGCCCAACCCCTGCC
727504119	177026	NM_030665.3(RAI1):c.4678C>T (p.Arg1560Ter)	RAI1	Aug 26, 2014	MedGen:C0795864,OMIM:182290,Orphanet:ORPHA819,SNOMED CT:401315004	Smith-Magenis syndrome	germline	17	17797626	TCTTCACCCTGTAAGGGGCGTGCCAAGCGACGACGACAGCAGCAGGTGCTGCCCCTGGATC
121434493	23072	NM_005535.2(IL12RB1):c.1126C>T (p.Gln376Ter)	IL12RB1	Apr 18, 2013	MedGen:C4013949,OMIM:614891,Orphanet:ORPHA319552	Immunodeficiency 30	germline	19	18069609	ACGTATTGCATTGAATGGCAGCCTGTGGGCCAGGACGGGGGCCTTGCCACCTGCAGCCTGA
797046025	207327	NM_033071.3(SYNE1):c.24865C>T (p.Gln8289Ter)	SYNE1	Feb 13, 2015	MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644	Spinocerebellar ataxia, autosomal recessive 8	germline	6	152143733	GACCACAGTGCCCTAGAGTCACAGATCCGACAACTGGGCAAAGCCCTGGATGATAGCCGTT
121909117	22447	NM_006941.3(SOX10):c.470C>T (p.Ala157Val)	SOX10	Apr 15, 2008	MedGen:C2750452,OMIM:613266	Waardenburg syndrome type 4C	germline	22	37978094	AAAGTGACAAGCGCCCCTTCATCGAGGAGGCTGAGCGGCTCCGTATGCAGCACAAGAAAGA
1057518917	360888	NM_000083.2(CLCN1):c.2635C>T (p.Gln879Ter)	CLCN1	Jan 23, 2015	Human Phenotype Ontology:HP:0002486,MedGen:C0027125	Myotonia	unknown	7	143351633	GCCATTGAGGGGCACACCAAGTCTGGGGTGCAGCTCCGCCCTCCCCTTGCCAGCTTCCGGA
63750005	95592	NM_000249.3(MLH1):c.245C>T (p.Thr82Ile)	MLH1	Jun 02, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37000992	ATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCTTTGAGGATTTAGC
-1	482260	NM_004187.3(KDM5C):c.3058C>T (p.Gln1020Ter)	KDM5C	Dec 26, 2017	MedGen:CN517202	not provided	germline	X	53195978	GAAAACATCCCTGTTCACCTGCCCAACATCCAGGCTCTCAAGGAGGCTCTTGCTAAGGCCC
1057518166	360433	NM_003079.4(SMARCE1):c.751C>T (p.Arg251Ter)	SMARCE1	Oct 21, 2016	MedGen:CN517202	not provided	germline	17	40631657	CTAGAAGCTGAACTTCTTCAAATAGAGGAACGACACCAGGAGAAGAAGAGGAAATTCCTGG
74315304	23462	NM_000396.3(CTSK):c.830C>T (p.Ala277Val)	CTSK	May 30, 2014	MedGen:C0238402,OMIM:265800,Orphanet:ORPHA763,SNOMED CT:89647000	Pyknodysostosis	germline;unknown	1	150799228	AAAGCTGCAATAGCGATAATCTGAACCATGCAGTTTTGGCAGTGGGATATGGAATCCAGAA
869312827	226412	NM_016213.4(TRIP4):c.760C>T (p.Arg254Ter)	TRIP4	Aug 10, 2016	MedGen:C4225177,OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1	germline	15	64406392	ACCAAGGACCTTCTTCCTCATCAAGAATTGCGAATTAAGTCTGGTCTGGAGAAGGCTATCA
193303102	178173	NM_001080413.3(NOBOX):c.907C>T (p.Arg303Ter)	NOBOX	Oct 01, 2011	MedGen:C1969060,OMIM:611548	Premature ovarian failure 5	germline	7	144400250	GAAGACCACTATCCTGACAGTGATAAACGCCGAGAGATTGCCCAGACGGTGGGGGTGACCC
104894596	16610	NM_000263.3(NAGLU):c.1444C>T (p.Arg482Trp)	NAGLU	Jan 01, 2002	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	germline	17	42543450	GCAGCCTGGGTGACCAGCTTTGCCGCCCGGCGGTATGGGGTCTCCCACCCGGACGCAGGGG
377443637	447105	NM_005957.4(MTHFR):c.1072C>T (p.Arg358Ter)	MTHFR	Jun 16, 2017	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11794823	CCCTGGGCTCTCAGCGCCCACCCCAAGCGCCGAGAGGAAGATGTACGTCCCATCTTCTGGG
1135401805	424650	NM_006772.2(SYNGAP1):c.3190C>T (p.Gln1064Ter)	SYNGAP1	Jan 06, 2017	MedGen:C2675473,OMIM:612621	Mental retardation, autosomal dominant 5	de novo	6	33443742	GGTGGGGGCAGCGGTGGGGGTGGCGGGGGCCAGCCGCCTCCATTGCAGAGGGGCAAGTCTC
778405030	235548	NM_001042492.2(NF1):c.1318C>T (p.Arg440Ter)	NF1	Aug 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline	17	31206297	GATGCTGTGTATTGTCACTCGGTTGAACTTCGAAATATGTTTGGTGAAACACTTCATAAAG
121912442	29802	NM_000454.4(SOD1):c.14C>T (p.Ala5Val)	SOD1	Aug 09, 2017	MedGen:C1862939,OMIM:105400;MedGen:CN517202	Amyotrophic lateral sclerosis type 1;not provided	germline	21	31659783	GCGTGGCCTAGCGAGTTATGGCGACGAAGGCCGTGTGCGTGCTGAAGGGCGACGGCCCAGT
185142838	40257	NM_000124.3(ERCC6):c.3862C>T (p.Arg1288Ter)	ERCC6	Dec 01, 2010	MedGen:C0220722,OMIM:214150,SNOMED CT:41283003	Cerebro-oculo-facio-skeletal syndrome	germline	10	49461473	GATTATGTACTGGTGGAGGCAGAAGCCAACCGAGTGGCCCAGGATGCCCTGAAAGCACTGA
121912421	29856	NM_001025107.2(ADAR):c.535C>T (p.Arg179Ter)	ADAR	Sep 01, 2003	MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED CT:239085000	Symmetrical dyschromatosis of extremities	germline	1	154601222	AATAGTATCCGCGCAGCACCAGGTGAGTTTCGAGCCATCATGGAGATGCCCTCCTTCTACA
1064795638	406342	NM_004656.3(BAP1):c.1777C>T (p.Gln593Ter)	BAP1	Sep 09, 2016	MedGen:CN517202	not provided	germline	3	52403251	TCGCCCTCCATCAGACCAATCCAAGGCAGCCAGGGGTCCAGCAGCCCAGTGGAGAAGGAGG
121918395	32898	NM_000041.3(APOE):c.736C>T (p.Arg246Cys)	APOE	Mar 01, 1991	na	APOE2-DUNEDIN	germline	19	44909032	ATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGG
118204444	15748	NM_000512.4(GALNS):c.485C>T (p.Ser162Phe)	GALNS	Nov 01, 1997	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88837703	TGAAGCACGGATTTGATGAGTGGTTTGGATCCCCCAACTGCCACTTTGGACCTTATGACAA
143038880	224699	NM_024989.3(PGAP1):c.1396C>T (p.Gln466Ter)	PGAP1	Feb 25, 2016	MedGen:C4014343,OMIM:615802	Mental retardation, autosomal recessive 42	germline	2	196875776	GAATTCTTTAAAAAAGAGAAAAGATACATACAGCTTCCTGTAACTCATCTTTTTTCCTTTG
-1	442112	NM_000435.2(NOTCH3):c.3091C>T (p.Arg1031Cys)	NOTCH3	Aug 13, 2015	MedGen:CN517202	not provided	germline	19	15180732	TATTGCCTTTGTCCCCCTGGATGGAGCGGACGCCTCTGTGACATCCGAAGCTTGCCCTGCA
104893685	21622	NM_003571.3(BFSP2):c.859C>T (p.Arg287Trp)	BFSP2	Apr 01, 2000	MedGen:C3808115,OMIM:611597;MedGen:CN517202	Cataract 12, multiple types;not provided	germline	3	133450432	ATTCAGTGGGAGAGAGATGTTGAAAAGAACCGGGTGGAGGCAGGAGCCCTGCTCCAAGCTA
121434519	19110	NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36897926	TCACAACTTCTGCCAGAGAAATTTGCAGAGCAGCTGATTCGAGTATATTGTAAGAAGGTGG
-1	431159	NM_012160.4(FBXL4):c.1210C>T (p.Gln404Ter)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98899375	GAAGTTATTTCTGAGATGTGTCCAAATCTACAGGCCTTAAATCTCTCCTCCTGTGATAAGC
137852439	25306	NM_000132.3(F8):c.5143C>T (p.Arg1715Ter)	F8	Nov 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154928647	CAGAGCCCCCGCAGCTTTCAAAAGAAAACACGACACTATTTTATTGCTGCAGTGGAGAGGC
-1	481472	NM_000346.3(SOX9):c.1372C>T (p.Gln458Ter)	SOX9	Dec 11, 2017	MedGen:C1861922,OMIM:114290,Orphanet:ORPHA140,SNOMED CT:74928006	Camptomelic dysplasia	maternal	17	72124229	TCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCT
74315481	18126	NM_000487.5(ARSA):c.1232C>T (p.Thr411Ile)	ARSA	Aug 25, 2011	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C4017847	Metachromatic leukodystrophy;Metachromatic leukodystrophy, mild	germline	22	50625443	CCTCCCCAGGCTCTGCCCACAGTGATACCACTGCAGACCCTGCCTGCCACGCCTCCAGCTC
137853069	22504	NM_002241.4(KCNJ10):c.491C>T (p.Thr164Ile)	KCNJ10	Nov 12, 2010	MedGen:C2748572,OMIM:612780,Orphanet:ORPHA199343	SeSAME syndrome	germline	1	160042042	CCACCATCCTGGAAATCTTCATCACAGGTACCTTCCTGGCGAAGATTGCCCGGCCCAAGAA
1057517736	360624	NM_014009.3(FOXP3):c.1009C>T (p.Arg337Ter)	FOXP3	Nov 09, 2016	MedGen:CN517202	not provided	germline	X	49253161	AACATGGACTACTTCAAGTTCCACAACATGCGACCCCCTTTCACCTACGCCACGCTCATCC
587777073	94454	NM_170606.2(KMT2C):c.4441C>T (p.Arg1481Ter)	KMT2C	Nov 14, 2017	MedGen:CN617858,OMIM:617768;MedGen:CN517202	KLEEFSTRA SYNDROME 2;not provided	germline	7	152194506	TTGCCTCAGCCAAATGTCAATCAGAGTTCACGACCATTAAGTGAAGAACAGCTAGATGGGA
764883927	226593	NM_001283106.2(TANGO2):c.418C>T (p.Arg140Ter)	TANGO2	Apr 13, 2017	MedGen:C4225171,OMIM:616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	germline	22	20055980	AAGGGAGACGTCATTTGCTACTATGGGAACCGAGGGGAGCCTGATCCTATCGTTTTGACGC
1057517655	359011	NM_006412.3(AGPAT2):c.676C>T (p.Gln226Ter)	AGPAT2	Dec 08, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136673913	GTTGCTTCCCCCACAGGAACAGTCACAGTGCAGGTGCTGGAAGCCATCCCCACCAGCGGCC
587777547	150258	NM_001288953.1(TTC7A):c.727C>T (p.Gln243Ter)	TTC7A	Jan 02, 2014	MedGen:C0220744,OMIM:243150,Orphanet:ORPHA436252,SNOMED CT:95472001	Multiple gastrointestinal atresias	germline	2	46993514	GTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAACTTCAAAGTGGTAATGTGGGGTGCTG
368287711	48031	NM_001558.3(IL10RA):c.301C>T (p.Arg101Trp)	IL10RA	Feb 07, 2013	MedGen:C4016214	Inflammatory bowel disease 28	germline	11	117989554	TACCACAGCAATGGCTACCGGGCCAGAGTGCGGGCTGTGGACGGCAGCCGGCACTCCAACT
113993980	34181	NM_002863.4(PYGL):c.1471C>T (p.Arg491Cys)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	not provided	14	50914748	CAGAATAAAACCAATGGGATCACTCCAAGGCGCTGGCTCCTACTCTGCAACCCAGGACTTG
312262728	49823	NM_025137.3(SPG11):c.1492C>T (p.Gln498Ter)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44648976	GGACTCTCTCTGATTTTGTTTGGTTTGACTCAAGAAGAGTTTTTAAACAGACTCATGATCC
387907093	40029	NM_017950.3(CCDC40):c.1345C>T (p.Arg449Ter)	CCDC40	Jan 01, 2011	MedGen:C3151137,OMIM:613808	Ciliary dyskinesia, primary, 15	germline	17	80058885	CAGGACCTGTATGTGGACCAGCTCACCACTCGAGCCCAGCAACTGGAAGAAGACATTGCCC
128626234	26260	NM_004006.2(DMD):c.253C>T (p.Gln85Ter)	DMD	Jan 01, 1994	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32844794	AACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACA
587777537	150123	NM_153648.3(SLC24A4):c.245C>T (p.Ala82Val)	SLC24A4	Mar 12, 2014	MedGen:C4014578,OMIM:615887	Amelogenesis imperfecta, hypomaturation type IIA5	germline	14	92442132	GCGAAGATGTGGCTGGAGCCACCTTCATGGCTGCAGGAAGCTCAACGCCAGAGCTGTTTGC
149271416	65583	NM_005006.6(NDUFS1):c.1222C>T (p.Arg408Cys)	NDUFS1	Jul 01, 2016	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline	2	206141981	GATGTTGTTCTTCTGGTTGGTACAAACCCACGTTTTGAGGCACCACTGTTTAATGCTAGAA
886039576	259911	NM_002316.3(LMX1B):c.781C>T (p.Arg261Cys)	LMX1B	Apr 15, 2016	MedGen:CN517202	not provided	germline	9	126693563	ACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAA
121909069	22021	NM_170695.3(TGIF1):c.872C>T (p.Ser291Phe)	TGIF1	Jun 01, 2000	MedGen:C1840528,OMIM:142946	Holoprosencephaly 4	germline	18	3457606	TAGGGAGGCCACTGTCTCCTAAGCCGTCATCCCCGGGATCAGTTTTGGCTCGTCCATCAGT
587783588	169853	NM_178151.2(DCX):c.781C>T (p.Gln261Ter)	DCX	Sep 02, 2014	Human Phenotype Ontology:HP:0002282,MedGen:C0008519;MedGen:C1848199,OMIM:300067,Orphanet:ORPHA2148	Heterotopia;Lissencephaly, X-linked	germline	X	111333078	GCCTGTGGTCCTGAAAAATTTCGCTATGCTCAGGATGATTTTTCTCTGGATGAAAATGGTA
543206298	179794	NM_000271.4(NPC1):c.2861C>T (p.Ser954Leu)	NPC1	Jan 13, 2017	MedGen:C3179455,OMIM:257220;MedGen:CN517202	Niemann-Pick disease type C1;not provided	germline;unknown	18	23539405	ACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGA
104893810	27551	NM_003242.5(TGFBR2):c.1582C>T (p.Arg528Cys)	TGFBR2	Jan 11, 2014	MedGen:C2674876,OMIM:610168;MedGen:CN517202	Loeys-Dietz syndrome 2;not provided	germline	3	30691477	ACTGAGTGCTGGGACCACGACCCAGAGGCCCGTCTCACAGCCCAGTGTGTGGCAGAACGCT
863223777	210220	NM_000192.3(TBX5):c.142C>T (p.Gln48Ter)	TBX5	Mar 26, 2015	MedGen:CN517202	not provided	germline	12	114403757	TCCCCGTCGTCCCCGCAGGCCGCCTTCACCCAGCAGGTAAGGAGACCTCGCGCTTCGGGTC
1064793024	406570	NM_000038.5(APC):c.5764C>T (p.Gln1922Ter)	APC	Oct 27, 2014	MedGen:CN517202	not provided	germline	5	112841358	GCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCA
869025604	224862	NM_181705.3(LYRM7):c.214C>T (p.Gln72Ter)	LYRM7	Mar 02, 2016	MedGen:C4014440,OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	germline	5	131187079	GTTGAATTATTACTCAGAACATCTGTTATACAAGGTATTCACACAGACCACAATACACTGA
779204655	237232	NM_003124.4(SPR):c.655C>T (p.Arg219Ter)	SPR	May 18, 2016	MedGen:CN517202	not provided	germline	2	72891406	GCCCGGGAGACCTCCGTGGACCCAGACATGCGAAAAGGGCTGCAGGAGCTGAAGGCAAAGG
587783652	169294	NM_005682.6(ADGRG1):c.1426C>T (p.Arg476Ter)	ADGRG1	Jan 05, 2015	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline;maternal	16	57659534	GTGGCCCTGACAGGCTCTGAGGCTGGCTGCCGAGCCAGTGCCATCTTCCTGCACTTCTCCC
74315370	152477	NM_003000.2(SDHB):c.136C>T (p.Arg46Ter)	SDHB	Jul 19, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;not provided	germline	1	17044825	GCTCCCCGTATCAAGAAATTTGCCATCTATCGATGGGACCCAGACAAGGCTGGAGACAAAC
876658461	232175	NM_003000.2(SDHB):c.640C>T (p.Gln214Ter)	SDHB	Apr 23, 2016	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;MedGen:C1861848,OMIM:115310;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Gastrointestinal stroma tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Paragangliomas 4;Pheochromocytoma	germline;unknown	1	17023975	GACAAATATCTGGGGCCTGCAGTTCTTATGCAGGTGAGGTGCTCCTTAATTGCTTTAAGAG
121912623	18620	NM_017662.4(TRPM6):c.1420C>T (p.Arg474Ter)	TRPM6	Jun 01, 2002	MedGen:C1865974,OMIM:602014,Orphanet:ORPHA30924	Hypomagnesemia 1, intestinal	germline	9	74812322	GTGAACCTCCATCGCTTTCTTACCATCCCTCGACTGGAAGAGCTCTACAATACAGTGAGTA
281865066	49453	NM_000744.6(CHRNA4):c.878C>T (p.Thr293Ile)	CHRNA4	Sep 20, 2012	MedGen:C1838049,OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1	not provided	20	63350533	TGTCGCTCACCGTCTTCCTGCTGCTCATCACCGAGATCATCCCGTCCACCTCACTGGTCAT
770573978	378102	NM_000444.5(PHEX):c.58C>T (p.Arg20Ter)	PHEX	Mar 04, 2016	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline	X	22033063	GAGACTGGAAAGAAGGCCAACAGAGGCACTCGAATTGCCCTGGTCGTGTTTGTCGGTGGCA
1131691792	422448	NM_000284.3(PDHA1):c.650C>T (p.Pro217Leu)	PDHA1	May 22, 2017	MedGen:CN517202	not provided	germline	X	19355395	CTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTA
121912562	23594	NM_000901.4(NR3C2):c.1609C>T (p.Arg537Ter)	NR3C2	Jul 01, 1998	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline	4	148435252	ATTGGTGCTCAAGGTACAATATCTTTATCACGATCGGCTAGAGACCAATCTTTCCAACACC
281865498	47600	NM_004614.4(TK2):c.760C>T (p.Arg254Ter)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560	Mitochondrial DNA depletion syndrome 2	not provided	16	66512006	ATGTTAGAACTCTTTGAACAAAATCGGGATCGAATATTAACTCCAGAGAATCGGAAGCATT
104886039	186843	NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter)	DHCR7	Apr 18, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71444022	AAGACTCCACCTATAACGAGGAAAGCCGCCCAGCTCTATACCTTGTGGGTCACCTTCCAGG
137852924	18422	NM_147127.4(EVC2):c.1195C>T (p.Arg399Ter)	EVC2	Jan 08, 2018	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005;MedGen:CN239258;MedGen:C0024507,OMIM:263520,SNOMED CT:72922008;MedGen:CN517202	Chondroectodermal dysplasia;Ellis-van Creveld Syndrome;Short rib-polydactyly syndrome, Majewski type;not provided	biparental;germline;unknown	4	5640789	AATCGGGCAGATGCAGATCTGGAGGCTTGTCGAACACAAATCAGCAAGGATATCATTGCCC
104893881	19556	NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter)	WFS1	Dec 01, 1998	MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009	Diabetes mellitus AND insipidus with optic atrophy AND deafness	germline	4	6302250	GAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCC
281874727	36048	NM_000495.4(COL4A5):c.4147C>T (p.Gln1383Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108681837	GGAGATGCTGGTCCTCCAGGAATCCCTGGCCAGCCTGGGCTAAAGGGTCTACCAGGACCCC
869025598	224855	NM_001142864.3(PIEZO1):c.6682C>T (p.Gln2228Ter)	PIEZO1	Aug 04, 2016	MedGen:C4225184,OMIM:616843	Lymphedema, hereditary, III	germline	16	88716877	CTGCCCCAGCCGCTGTTCACCATGAGCGCCCAGCAGCCGTCCATCATCCCCTTCACGGCCC
200710887	440198	NM_001080463.1(DYNC2H1):c.10120C>T (p.Arg3374Cys)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	11	103253341	GACAAAATTATTGACTACAATGAAGAATTCCGCCTCTTTTTGTCAACAAGAAACCCAAATC
587784173	168246	NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter)	NSD1	May 24, 2016	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177283790	GATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACT
387906974	39636	NM_057179.2(TWIST2):c.193C>T (p.Gln65Ter)	TWIST2	Aug 13, 2010	MedGen:C1744559,OMIM:227260,SNOMED CT:239051001	Congenital ectodermal dysplasia of face	germline	2	238848408	AGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCG
28940888	18709	NM_000229.1(LCAT):c.1034C>T (p.Thr345Met)	LCAT	Feb 01, 1993	MedGen:C0023195,OMIM:245900,Orphanet:ORPHA650	Norum disease	germline	16	67940193	TATACTGTCTTTACGGCGTGGGCCTGCCCACGCCCCGCACCTACATCTACGACCACGGCTT
864309483	171808	NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp)	ADCY5	Jul 12, 2017	MedGen:C1847627,OMIM:606703,Orphanet:ORPHA324588;MedGen:CN517202	Dyskinesia, familial, with facial myokymia;not provided	de novo;germline	3	123352464	TTCCAGGAGACCCGAGAGTGCATCCAGGCGCGGCTCCACTCGCAGCGGGAGAACCAGCAGC
193919337	19033	NM_001243766.1(POMGNT1):c.187C>T (p.Arg63Ter)	POMGNT1	Sep 20, 2016	na;MedGen:C4310704,OMIM:617123	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3;Retinitis pigmentosa 76	germline	1	46197018	GTCAATATCAAGTTGATCCTGGACACTCGGCGAGCCATCAGTGAAGCCAATGAAGACCCAG
1131691239	421008	NM_000143.3(FH):c.757C>T (p.Gln253Ter)	FH	Sep 16, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	241506150	TTTTCTTTTCAGGAATTTAGTGGTTATGTTCAACAAGTAAAATATGCAATGACAAGAATAA
121918775	79496	NM_006920.4(SCN1A):c.2803C>T (p.Arg935Cys)	SCN1A	Oct 20, 2016	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166037886	GACTTCTTCCACTCCTTCCTGATTGTGTTCCGCGTGCTGTGTGGGGAGTGGATAGAGACCA
767106034	264750	NM_001271.3(CHD2):c.3214C>T (p.Arg1072Ter)	CHD2	Oct 18, 2016	MedGen:CN517202	not provided	germline	15	92984477	AAGGAGCTAGAAGAAATTTATATGCTGCCTCGAATTCGGAGTTCCACTAAAAAGGTGATCA
587777181	106804	NM_006702.4(PNPLA6):c.3029C>T (p.Thr1010Ile)	PNPLA6	Mar 04, 2014	MedGen:C1859093,OMIM:215470,Orphanet:ORPHA1180	Boucher Neuhauser syndrome	germline	19	7556502	AACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCG
1057520673	375142	NM_004247.3(EFTUD2):c.1732C>T (p.Arg578Ter)	EFTUD2	Feb 17, 2017	MedGen:CN517202	not provided	germline	17	44860033	TTGTGCTTTGGATCTCAGGCTCAGATTTTCCGACCCTTGAAGTTCAATACCACATCTGTTA
121908387	20305	NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter)	SPINK5	Jun 01, 2000	MedGen:C0265962,OMIM:256500,Orphanet:ORPHA634	Netherton syndrome	germline	5	148120063	CAAATGAAAAATGGAAAACTCATCTGCACTCGAGAAAGTGACCCTGTCCGGGGTCCAGATG
794728086	197986	NM_001943.4(DSG2):c.1750C>T (p.Gln584Ter)	DSG2	Mar 01, 2016	MedGen:C1857777,OMIM:610193	Arrhythmogenic right ventricular cardiomyopathy, type 10	germline	18	31538849	GACAATCAGGGTTTTAGTTGTCCTGAAAAGCAGGTCCTTACACTCACAGTTTGTGAGTGTC
387906799	39125	NM_001244008.1(KIF1A):c.296C>T (p.Thr99Met)	KIF1A	Oct 06, 2015	MedGen:C3280283,OMIM:614255;MedGen:C1850055,OMIM:260565,Orphanet:ORPHA2836;MedGen:CN517202	Mental retardation, autosomal dominant 9;PEHO syndrome;not provided	de novo;germline	2	240788118	ACAACGTGTGCATCTTCGCCTATGGGCAGACGGGTGCCGGCAAGTCCTACACCATGATGGG
121918224	16264	NM_006363.5(SEC23B):c.790C>T (p.Arg264Ter)	SEC23B	Aug 01, 2009	MedGen:C1306589,OMIM:224100,Orphanet:ORPHA98873,SNOMED CT:68870007	Congenital dyserythropoietic anemia, type II	germline	20	18525888	TGGCCAGTAACTCAGGGGAAGAGACCTTTGCGATCCACTGGTGTGGCTTTGTCCATTGCTG
794726789	187754	NM_001165963.1(SCN1A):c.4016C>T (p.Ala1339Val)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166002740	TTCCATTTGTGTATTAGGTGGTTGTGAATGCCCTTTTAGGAGCAATTCCATCCATCATGAA
267606989	28387	NM_002834.4(PTPN11):c.412C>T (p.Arg138Ter)	PTPN11	Jun 17, 2010	MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009	Metachondromatosis	germline	12	112453274	GAAAAAGGAAAACATGGTAGTTTTCTTGTACGAGAGAGCCAGAGCCACCCTGGAGATTTTG
587784278	169365	NM_000430.3(PAFAH1B1):c.664C>T (p.Gln222Ter)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2672750	AGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGG
762121316	181562	NM_017534.5(MYH2):c.2347C>T (p.Arg783Ter)	MYH2	May 01, 2010	MedGen:C1854106,OMIM:605637	Inclusion body myopathy 3	germline	17	10533379	GCTGGTCTTCTGGGGCTCCTAGAGGAGATGCGAGATGACAAGCTGGCCCAGCTGATTACCC
137852923	18444	NM_015102.4(NPHP4):c.1972C>T (p.Arg658Ter)	NPHP4	Feb 10, 2016	MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:C1846979,OMIM:606996	Nephronophthisis;Senior-Loken syndrome 4	germline	1	5904788	GTTGTTGGATTCAGAGTGGCCCAGGACTGCCGAGGAACATCATGGCCAAAGACTGTGTATT
121918467	28380	NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met)	PTPN11	Nov 01, 2004	MedGen:C0041409,OMIM:163950	Noonan syndrome 1	germline	12	112486482	GGTTTTTCTTGGCTCTACTCCAGGGGAATACGGAGAGAACGGTCTGGCAATACCACTTTCG
267608643	153512	NM_003159.2(CDKL5):c.1648C>T (p.Arg550Ter)	CDKL5	May 17, 2017	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:C1839333,OMIM:300672;MedGen:CN517202	Atypical Rett syndrome;Early infantile epileptic encephalopathy 2;not provided	de novo;germline;unknown	X	18604572	ACTTTGCTCAGCCCTTCTGGAAGAAATAACCGAAATGAGGGAACGCTGGACTCACGTCGAA
121917783	27083	NM_000136.2(FANCC):c.553C>T (p.Arg185Ter)	FANCC	Jul 11, 2017	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002;MedGen:C3468041,OMIM:227645;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Fanconi anemia;Fanconi anemia, complementation group C;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	9	95150056	ATGGCTCCCGAGCGAGTGGCGTCCCTGTCACGAGTTTGTGTCCCACTTATTACCCTGACAG
121908495	20803	NM_004211.4(SLC6A5):c.1888C>T (p.Gln630Ter)	SLC6A5	Oct 04, 2012	MedGen:C3553288,OMIM:614618	Hyperekplexia 3	germline	11	20638477	CTCTCCTGTTAGGGTGGAATTTACATGTTTCAGCTTGTGGACACCTATGCTGCCTCCTATG
756659230	226506	NM_015100.3(POGZ):c.2590C>T (p.Arg864Ter)	POGZ	Mar 24, 2016	MedGen:C4225351,OMIM:616364,Orphanet:ORPHA468678	White-sutton syndrome	germline	1	151406445	CACCCCTTTAGGCATGGCCAGACTCGTGACCGAGTGCATGACCGGAACGTGAAGAATATGT
745800041	247509	NM_003504.4(CDC45):c.318C>T (p.Val106=)	CDC45	Oct 20, 2016	MedGen:C4310738,OMIM:617063	Meier-gorlin syndrome 7	germline	22	19482803	TGTGTGTGACACCCATAGGCCAGTCAATGTCGTCAATGTATACAACGATACCCAGGTACTT
760703505	222607	NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter)	NF1	Jun 23, 2017	Human Phenotype Ontology:HP:0007565,MedGen:C1861975,OMIM:114030,Orphanet:ORPHA2678;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;Human Phenotype Ontology:HP:0100698,MedGen:C1827970;Human Phenotype Ontology:HP:0002943,MedGen:C1857790;MedGen:CN517202	Cafe au lait spots, multiple;Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;Subcutaneous neurofibromas;Thoracic scoliosis;not provided	germline;unknown	17	31261733	GTATCTAGGGATCATAAAGCTGTTGGAAGACGACCTTTTGATAAGATGGCAACACTTCTTG
104894721	27570	NM_000660.6(TGFB1):c.652C>T (p.Arg218Cys)	TGFB1	Mar 05, 2015	Human Phenotype Ontology:HP:0100252,MedGen:C0011989,OMIM:131300,SNOMED CT:34643004	Diaphyseal dysplasia	germline	19	41342230	GCCACTCCTACAGGGGAAATTGAGGGCTTTCGCCTTAGCGCCCACTGCTCCTGTGACAGCA
879255548	247414	NM_004625.3(WNT7A):c.304C>T (p.Arg102Trp)	WNT7A	Aug 08, 2016	MedGen:C1848651,OMIM:276820	Ulna and fibula absence of with severe limb deficiency	inherited	3	13854798	GTCTCCTCTTCTCTCCTCCTCGCAGGGAGCCGGGAGGCTGCGTTCACCTACGCCATCATTG
63750972	29287	NM_016835.4(MAPT):c.1866+14C>T	MAPT	Dec 01, 1994	Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:CN517202	Frontotemporal dementia;not provided	germline	17	46010416	TCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAAT
121913656	29116	NM_002473.5(MYH9):c.3464C>T (p.Thr1155Ile)	MYH9	May 01, 2003	MedGen:C0403445,OMIM:153640,SNOMED CT:236422008;MedGen:C0340978,OMIM:155100	Fechtner syndrome;May-Hegglin anomaly	germline	22	36295526	AAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAGCAGGAGCTCAGGTGTGCCCT
727503431	174033	NM_000441.1(SLC26A4):c.2215C>T (p.Gln739Ter)	SLC26A4	Jun 21, 2016	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome	germline;unknown	7	107710179	CTACAGAACCAAGTGAAATCTCAAGAGGGTCAAGGTTCCATTTTAGAAACGGTAAATATTC
757511744	259352	NM_001242896.1(DEPDC5):c.1264C>T (p.Arg422Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31806168	AGCCAGCTCTTTTGTAATAGTTTCACCCCACGAATAAAACTGGCAGGAAAGAAGGTAGGTT
104886270	36059	NM_000495.4(COL4A5):c.4228C>T (p.Arg1410Cys)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108686060	GGTCCAACTGGCCCTCCAGGAGATCCTGGACGCAATGGACTCCCTGGCTTTGATGGTGCAG
747522386	406328	NM_000094.3(COL7A1):c.3631C>T (p.Gln1211Ter)	COL7A1	Dec 14, 2016	MedGen:CN517202	not provided	germline	3	48586166	CGTCGCTTGGCGCCGGGTATGGACTCTGTCCAGACCTTCTTCGCCGTGGATGATGGGCCAA
121918784	79484	NM_006920.4(SCN1A):c.2542C>T (p.Arg848Cys)	SCN1A	Jul 14, 2016	MedGen:C1858672,OMIM:604233;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 1;not provided	germline	2	166039437	CTCGCCAATGTGGAAGGATTATCTGTTCTCCGTTCATTTCGATTGGTAAAAAAAAAAAAAA
387907090	40019	NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys)	KBTBD13	Dec 10, 2010	MedGen:C1836472,OMIM:609273	Nemaline myopathy 6	germline	15	65078037	GTGCGCGGTGACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGG
397514766	75618	NM_139276.2(STAT3):c.1166C>T (p.Thr389Ile)	STAT3	Oct 01, 2012	MedGen:C0022398,OMIM:147060,SNOMED CT:50926003	Hyperimmunoglobulin E syndrome	germline	17	42329621	TCAGATCCCGGAAATTTAACATTCTGGGCACAAACACAAAAGTGATGAACATGGAAGAATC
541269678	186814	NM_000352.4(ABCC8):c.2857C>T (p.Gln953Ter)	ABCC8	Dec 24, 2015	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline;unknown	11	17407417	GTCACAGAGAGAAAAGCCACAGAGCCACCCCAGGGCCTATCTCGTGCCATGTCCTCGAGGG
-1	426381	NM_000398.6(CYB5R3):c.250C>T (p.Arg84Ter)	CYB5R3	May 31, 2017	MedGen:CN517202	not provided	germline	22	42630965	CCTGCAGGCCAGCACATCTACCTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCGGCCCT
80358936	66929	NM_000059.3(BRCA2):c.7060C>T (p.Gln2354Ter)	BRCA2	Nov 03, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32354913	ATACAGAATCCAAATTTTACCGCACCTGGTCAAGAATTTCTGTCTAAATCTCATTTGTATG
1131691383	421323	NM_001256850.1(TTN):c.94789C>T (p.Gln31597Ter)	TTN	May 09, 2017	MedGen:CN517202	not provided	germline	2	178537495	ATGACTTGGTTCCATGGTCAGAAACTTTTGCAAAACTCAGAAAACATTACTATTGAAAACA
765975825	474297	NM_005732.3(RAD50):c.2263C>T (p.Gln755Ter)	RAD50	Dec 02, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132603355	AAGGAAATACCAGAATTAAGAAACAAACTGCAGAATGTCAATAGAGACATACAGCGCCTAA
797045655	206978	NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu)	KIF1A	Apr 26, 2016	MedGen:C3280283,OMIM:614255;MedGen:CN517202	Mental retardation, autosomal dominant 9;not provided	germline	2	240783087	GCCCGCAGGAGGGGGCCAACATCAACAAGTCGCTGACCACCCTGGGCAAGGTCATCTCCGC
587777008	70567	NM_006494.3(ERF):c.256C>T (p.Arg86Cys)	ERF	Apr 19, 2017	Human Phenotype Ontology:HP:0004443,MedGen:C1833340,OMIM:600775;MedGen:CN517202	Craniosynostosis 4;not provided	germline	19	42250332	ATGAATTACGACAAGCTGAGCCGGGCCCTGCGGTGAGGACGGGCTGGGGACCCCTGAGCAC
267607239	22577	NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter)	KMT2D	Sep 01, 2010	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49022332	CCTTTCTAGAATCGAGGCATCTACATGTTCCGAATAAACAATGAACATGTGATTGATGCTA
276174925	67512	NM_000059.3(BRCA2):c.9466C>T (p.Gln3156Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32394898	TTTTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTG
-1	426747	NM_003482.3(KMT2D):c.11515C>T (p.Gln3839Ter)	KMT2D	May 09, 2017	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49033190	ATGACCCAGTCCCGGGTGCTCAGTTCCCCCCAGCTGGCACAGCAGGGTCAGGGCCTTATGG
587777334	132626	NM_005051.2(QARS):c.1543C>T (p.Arg515Trp)	QARS	Jan 17, 2017	MedGen:C4014239,OMIM:615760,Orphanet:ORPHA404437;MedGen:CN517202	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;not provided	germline	3	49099415	CTTCTTATCCACAGGGACTGGGATGACCCACGGCTCTTTACACTCACGGCCCTGCGACGGC
-1	428571	NM_020732.3(ARID1B):c.3898C>T (p.Gln1300Ter)	ARID1B	Jan 12, 2017	MedGen:C3281201,OMIM:614562	Mental retardation, autosomal dominant 12	germline	6	157196200	GGAAGCAGCGAGCCCTTTATGACGCAAGGACAGATGCCCAACAGCAGCATGCAGGACATGT
778479139	206622	NM_033409.3(SLC52A3):c.634C>T (p.Arg212Cys)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	763937	ATGGAAGCACCCTTGTCCCACCTGGAGAGCCGCTACCTTCCCGCCCACTTCTCACCCCTGG
207482230	45764	NM_006070.5(TFG):c.854C>T (p.Pro285Leu)	TFG	Feb 29, 2016	Gene:50989,MedGen:C1858338,OMIM:604484,Orphanet:ORPHA90117;MedGen:CN517202	Neuropathy, hereditary motor and sensory, Okinawa type;not provided	germline	3	100748182	GCTATAGTCAGCAGACTGGACCTCAACAACCTCAGCAGTTCCAGGGATATGGCCAGCAACC
193302860	34576	NM_032520.4(GNPTG):c.857C>T (p.Thr286Met)	GNPTG	Jul 05, 2012	MedGen:C1854896,OMIM:252605,Orphanet:ORPHA423470	Mucolipidosis III Gamma	not provided	16	1363030	CTTCCAACTTGGAGCACTTGGGCCACGAGACGCCCAGAGCCAAGTCTCCAGAGCAGCTGCG
121907972	18964	NM_000520.5(HEXA):c.508C>T (p.Arg170Trp)	HEXA	Jan 05, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline;unknown	15	72353130	GAGATTGAGGACTTTCCCCGCTTTCCTCACCGGGGCTTGCTGTTGGATACATCTCGCCATT
752160950	190171	NM_000135.3(FANCA):c.2557C>T (p.Arg853Ter)	FANCA	Jul 02, 2009	MedGen:C3469521,OMIM:227650	Fanconi anemia, complementation group A	germline	16	89767185	TACTCTCTCTGCAAGTTTTCTTCCCAGTCACGAGATACTTTGTGCAGCTGCTTATCTCCAG
587777728	165913	NM_032492.3(JAGN1):c.130C>T (p.His44Tyr)	JAGN1	Sep 01, 2014	Human Phenotype Ontology:HP:0005541,MedGen:C1853118,Orphanet:ORPHA42738;MedGen:C4014954,OMIM:616022,Orphanet:ORPHA423384	Severe congenital neutropenia;Severe congenital neutropenia 6, autosomal recessive	germline	3	9892955	AAGTATGAAATCAAGAAGCTGATCTACGTACATCTGGTCATATGGCTGCTGCTGGTTGCTA
137852928	18426	NM_001166136.1(EVC2):c.2608C>T (p.Arg870Trp)	EVC2	Dec 01, 2002	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	germline	4	5584832	GTCCCCTCCCAGGTTCGAGGTGAATTGCTGCGGGAGAGAGTGCAGCGGATGGAGGCACAGG
121912893	32434	NM_001844.4(COL2A1):c.1957C>T (p.Arg653Ter)	COL2A1	Feb 10, 2017	MedGen:C1836081,Orphanet:ORPHA209867;MedGen:C2020284,OMIM:108300;MedGen:CN517202	Rhegmatogenous retinal detachment, autosomal dominant;Stickler syndrome type 1;not provided	germline	12	47983721	TCTTTTCCACTGCAGGGACCTGCTGGTGAACGAGGCGAGCAGGGTGCTCCTGGGCCATCTG
754894257	434425	NM_172250.2(MMAA):c.202C>T (p.Gln68Ter)	MMAA	-	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145639341	TCAGATGGCTTAAAGAGAAAATTATGTGTACAAACAACCTTAAAGGACCACACAGAAGGAC
773242930	482002	NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter)	IGHMBP2	Mar 16, 2017	MedGen:CN517202	not provided	germline	11	68936848	ATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCG
460897	31584	NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu)	CFH	Mar 10, 2011	MedGen:C2749604,OMIM:235400	Atypical hemolytic-uremic syndrome 1	germline	1	196747189	TAAGGTGGACAGCCAAACAGAAGCTTTATTCGAGAACAGGTGAATCAGTTGAATTTGTGTG
121918388	32932	NM_000384.2(APOB):c.6835C>T (p.Gln2279Ter)	APOB	Jul 01, 2005	MedGen:C1862599	Hypobetalipoproteinemia, normotriglyceridemic	germline	2	21010033	CTTAAGAGACACATACAGAATATAGACATCCAGCACCTAGCTGGAAAGTTAAAACAACACA
121917872	15499	NM_000097.5(CPOX):c.623C>T (p.Ser208Phe)	CPOX	Jan 01, 2002	MedGen:C0342856,SNOMED CT:190915002	Coproporphyria	germline	3	98591089	GTGTTTTCGAAAAGGCTGGGGTGAGCATTTCTGTTGTTCATGGAAATCTTTCAGAGGAAGC
587784095	168153	NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177211466	TCAGACTGTGTTACTAGGCGCAACTGTGGACGATCAAAGCCTTCATCCAAATTGCGAGATG
137852494	25099	NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)	HPRT1	Dec 02, 2013	na;MedGen:C0023374,OMIM:300322,SNOMED CT:10406007;MedGen:CN517202	HPRT FUJIMI;Lesch-Nyhan syndrome;not provided	germline	X	134475197	TTTTATTTCTGTAGGACTGAACGTCTTGCTCGAGATGTGATGAAGGAGATGGGAGGCCATC
41278174	426889	NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16165739	ACGGTTGACGTGGACATTCCAGACAAACTCCGGTCCCTGCTGATGTACGCCTTTGGACTCC
267607192	19675	NM_052985.3(IFT122):c.1118C>T (p.Ser373Phe)	IFT122	Sep 12, 2013	MedGen:C0432235,OMIM:218330	Cranioectodermal dysplasia 1	germline	3	129476463	TGCGGCTTGGGACTGTTGGGGAGCAGAACTCCTGGGTGTGGACGTGTCAAGCGAAACCGGA
104893720	20964	NM_006580.3(CLDN16):c.445C>T (p.Arg149Ter)	CLDN16	Jul 02, 1999	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190404779	CCTGGTCTTCCAGTGAAGCTGGTGGTAACTCGAGCGTTGATGATTACTGCAGATATTCTAG
515726211	136383	NM_000119.2(EPB42):c.920C>T (p.Thr307Ile)	EPB42	Mar 13, 2014	MedGen:C2675192,OMIM:612690	Spherocytosis type 5	germline	15	43209276	AGGCCTGGGTGTTGGCTGCTGTTGCTTGCACAGGTTGGTCCCCTTGTCTCCTGTAGAGTGC
121918462	28373	NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile)	PTPN11	Aug 07, 2017	Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:CN074218,OMIM:151100;MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED CT:205481009;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:C0041409,OMIM:163950;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome;Noonan syndrome 1;Noonan syndrome 1;Rasopathy;not provided	germline;unknown	12	112450398	ATGACCTGTATGGAGGGGAGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTATTACATGGA
-1	457953	NM_000503.5(EYA1):c.1684C>T (p.Gln562Ter)	EYA1	Sep 27, 2016	MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Melnick-Fraser syndrome	germline	8	71211170	GTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATTCCTAGAT
104894636	20147	NM_000199.3(SGSH):c.220C>T (p.Arg74Cys)	SGSH	Jun 15, 2017	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-A;not provided	germline;inherited	17	80217061	TTCACCTCGGTCAGCAGCTGCTCTCCCAGCCGCGCCAGCCTCCTCACTGGCCTGCCCCAGG
67960011	26027	NM_000531.5(OTC):c.421C>T (p.Arg141Ter)	OTC	Jul 01, 1989	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38401309	TTGTCTAGCATGGCAGATGCAGTATTGGCTCGAGTGTATAAACAATCAGATTTGGACACCC
63751422	96795	NM_000535.6(PMS2):c.1927C>T (p.Gln643Ter)	PMS2	Jul 25, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Turcot syndrome;not provided	germline	7	5986838	CATCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAGTTTAGGGCAAAGATTT
774163084	414418	NM_001013703.3(EIF2AK4):c.2458C>T (p.R820*)	EIF2AK4	-	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	39988037	TTACGAGACACCATTGACCAGGGACTGTATCGAGACACCGTCAGACTCTGGAGGCTTTTTC
72653801	426913	NM_001171.5(ABCC6):c.2831C>T (p.Thr944Ile)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16169810	TGCACCTGGCCTACCTGCGTGCCGTGGGCACCCCCCTCTGCCTCTACGCACTCTTCCTCTT
1131692174	424177	NM_003797.4(EED):c.772C>T (p.His258Tyr)	EED	Jul 17, 2017	MedGen:CN314204,OMIM:617561	Cohen-Gibson syndrome	germline	11	86266128	GGTGAAAAAATAATGTCCTGTGGTATGGATCATTCTCTTAAACTTTGGAGGATCAATTCAA
796053228	202756	NM_014191.3(SCN8A):c.5614C>T (p.Arg1872Trp)	SCN8A	Nov 16, 2016	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3281191,OMIM:614558;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 13;Epileptic encephalopathy;not provided	de novo;germline	12	51807100	TTGGACATCCTGCGGCAGCAGATGGAAGAGCGGTTCGTGGCATCCAATCCTTCCAAAGTGT
121912558	23618	NM_004999.3(MYO6):c.3496C>T (p.Arg1166Ter)	MYO6	May 01, 2003	MedGen:C1843028,OMIM:607821	Deafness, autosomal recessive 37	germline	6	75914119	CCTGCCAGGCAGCGGGAGATTGAAATGAACCGACAGCAACGCTTCTTCCGCATCCCATTCA
121917781	27134	NM_000196.3(HSD11B2):c.1009C>T (p.Arg337Cys)	HSD11B2	Nov 01, 1995	MedGen:C2936861,OMIM:218030	Apparent mineralocorticoid excess	germline	16	67436794	GATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCA
-1	460531	NM_000051.3(ATM):c.1495C>T (p.Gln499Ter)	ATM	Jul 13, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108250960	TGTATTACCTTTCGTGGTATAAGTTCTGAGCAAATACAAGCTGAAAACTTTGGCTTACTTG
121434380	17334	NM_015046.5(SETX):c.5929C>T (p.Leu1977Phe)	SETX	Dec 12, 2006	MedGen:C1853761,OMIM:606002	Spinocerebellar ataxia autosomal recessive 1	germline	9	132296907	ACAGGAAAATCAAAAACTATTGTTGGCCTCCTCTATCGTCTACTGACAGAGGTAGGTATGG
755796920	194830	NM_000433.3(NCF2):c.565C>T (p.Gln189Ter)	NCF2	Apr 10, 2015	MedGen:C1856245,OMIM:233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	germline	1	183573229	GTGGGCAAGCTGTTTCGACCAAATGAGAGACAAGTGGCTCAGCTGGCCAAGAAGGATTACC
1085307702	414728	NM_015100.3(POGZ):c.3022C>T (p.Arg1008Ter)	POGZ	Apr 11, 2017	MedGen:CN517202	not provided	germline	1	151406013	AATCCCCAGCGACGTATTCGCCGTTGGCTTCGACGTTTCCAGGCCTCCCAGGGGGAGAATC
281875227	39300	NM_003072.3(SMARCA4):c.2653C>T (p.Arg885Cys)	SMARCA4	Sep 07, 2017	MedGen:C3553249,OMIM:614609;MedGen:CN517202	Mental retardation, autosomal dominant 16;not provided	de novo;germline	19	11021761	TGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGC
121912605	17389	NM_016341.3(PLCE1):c.4451C>T (p.Ser1484Leu)	PLCE1	Dec 01, 2006	MedGen:C1853124,OMIM:610725	Nephrotic syndrome, type 3	germline	10	94270547	TCATCAACTCTGACCTGCCAATCATCATATCGATTGAGAACCACTGTTCATTGCCTCAGCA
146794392	186609	NM_000228.2(LAMB3):c.1978C>T (p.Arg660Ter)	LAMB3	Oct 23, 2017	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006;MedGen:CN517202	Junctional epidermolysis bullosa gravis of Herlitz;not provided	germline;unknown	1	209623999	TTTTAGTGTAAGCTCCTCTCCCTTCTCAGGCGAACTCTCCAGGGCCTGCAGCTGGATCTGC
137853598	25830	NM_152692.4(C1GALT1C1):c.202C>T (p.Arg68Ter)	C1GALT1C1	Oct 27, 2005	MedGen:C0272137,OMIM:300622,SNOMED CT:40387008	Polyagglutinable erythrocyte syndrome	somatic	X	120626965	GATGAGCGCATGGAGCTCAGTAAGAGCTTTCGAGTATACTGTATTATCCTTGTAAAACCCA
121434507	23728	NM_002843.3(PTPRJ):c.640C>T (p.Arg214Cys)	PTPRJ	Jul 01, 2002	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	11	48123636	AAAATAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTG
762991211	353881	NM_006177.3(NRL):c.91C>T (p.Arg31Ter)	NRL	-	MedGen:C1849394,OMIM:268100,Orphanet:ORPHA53540	Enhanced s-cone syndrome	inherited	14	24082758	TTTGAGGTAAAGCGGGAACCCTCTGAGGGCCGACCTGGCCCCCCTACAGCCTCACTGGGCT
80338844	21935	NM_003002.3(SDHD):c.242C>T (p.Pro81Leu)	SDHD	Oct 23, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1868633,OMIM:168000;MedGen:C3276074;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;MedGen:CN517202;MedGen:CN169374	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 1;Paragangliomas 1 with sensorineural hearing loss;Pheochromocytoma;not provided;not specified	germline;somatic;unknown	11	112088939	TTGTCAGTGTTTTGCTCCTGGGTCTGCTTCCGGCTGCTTATTTGAATCCTTGCTCTGCGAT
587777400	136568	NM_002641.3(PIGA):c.278C>T (p.Pro93Leu)	PIGA	Jan 01, 2014	MedGen:C3275508,OMIM:300868,Orphanet:ORPHA300496	Multiple congenital anomalies-hypotonia-seizures syndrome 2	germline	X	15331653	TCACCAGTGGCCTCAAAGTCTATTACTTGCCTCTGAAAGTCATGTACAACCAGTCTACAGC
137853208	32849	NM_001082971.1(DDC):c.749C>T (p.Ser250Phe)	DDC	Apr 15, 2013	MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004	Deficiency of aromatic-L-amino-acid decarboxylase	germline	7	50504025	TTGCCACCCTGGGGACCACAACATGCTGCTCCTTTGACAATCTCTTAGAAGTCGGTCCTAT
41293465	70268	NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline;somatic;unknown	17	43045767	GGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCT
28936682	23483	NM_000304.3(PMP22):c.469C>T (p.Arg157Trp)	PMP22	Dec 18, 2014	MedGen:CN069172;MedGen:C1861669,OMIM:118300,Orphanet:ORPHA90103	Autosomal recessive Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease and deafness	germline	17	15230931	CTTCTCAGCGGTGTCATCTATGTGATCTTGCGGAAACGCGAATGAGGCGCCCAGACGGTCT
1057524433	369177	NM_000535.6(PMS2):c.2140C>T (p.Gln714Ter)	PMS2	Mar 04, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary nonpolyposis colon cancer;not provided	germline	7	5982858	GACGAGAAGTATAACTTCGAGATGCTGCAGCAGCACACCGTGCTCCAGGGGCAGAGGCTCA
770038577	225027	NM_003319.4(TTN):c.57895C>T (p.Arg19299Ter)	TTN	Jul 17, 2017	MedGen:CN230736;MedGen:C1858763,OMIM:604145;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004	Cardiovascular phenotype;Dilated cardiomyopathy 1G;Primary dilated cardiomyopathy	germline	2	178561042	CCTCCAAGAGTTATGATGGATGTCAAGTTCCGAGACGTTATTGTTGTCAAAGCTGGAGAGG
1060501989	393062	NM_000251.2(MSH2):c.388C>T (p.Gln130Ter)	MSH2	Sep 05, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47410115	TTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATG
104895360	103464	NM_000431.3(MVK):c.1162C>T (p.Arg388Ter)	MVK	Oct 24, 2017	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:CN517202	Hyperimmunoglobulin D with periodic fever;not provided	germline	12	109596548	TCCATCCACTCAGCCACCTCCCTGGACAGCCGAGTCCAGCAAGCCCTGGATGGCCTCTGAG
122468181	26439	NM_080632.2(UPF3B):c.1288C>T (p.Arg430Ter)	UPF3B	Jun 01, 2013	MedGen:C1970822,OMIM:300676	Mental retardation, syndromic 14, X-linked	germline	X	119837771	GAAAAGAAAGAAGAAGTGGTCAAGAGAGATCGAATAAGAAACAAGGTGCTGCTTGTCATTA
121912874	32405	NM_001844.4(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1	Mar 01, 2017	Human Phenotype Ontology:HP:0002655,MedGen:C0038015,OMIM:183900,Orphanet:ORPHA253;MedGen:CN517202	Spondyloepiphyseal dysplasia congenita;not provided	germline	12	47978329	CAGAGAGGCATCGTCGGTCTGCCTGGGCAACGTGGTGAGAGAGGATTCCCTGGCTTGCCTG
104894785	169914	NM_178151.2(DCX):c.265C>T (p.Arg89Ter)	DCX	Mar 31, 2014	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410134	AGCTTTGACGCCTTGCTGGCTGACCTGACGCGATCTCTGTCTGACAACATCAACCTGCCTC
587784409	170148	NM_006306.3(SMC1A):c.2131C>T (p.Arg711Trp)	SMC1A	Feb 08, 2013	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	germline	X	53405077	GTGCAGTCTCAGGCCCATGGACTGCAGATGCGGCTCAAGTACTCCCAGAGTGACCTAGAAC
201153410	50332	NM_000541.4(SAG):c.577C>T (p.Arg193Ter)	SAG	Jan 01, 1998	MedGen:C1306122,OMIM:258100,SNOMED CT:193687000	Oguchi's disease	germline	2	233328542	CATGCCCCACTTGAGATGGGTCCCCAGCCCCGAGCTGAGGCGGCCTGGCAGTTCTTCATGT
1135402768	425027	NM_000527.4(LDLR):c.487C>T (p.Gln163Ter)	LDLR	Mar 01, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105393	TTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACT
118203901	29598	NM_005562.2(LAMC2):c.733C>T (p.Arg245Ter)	LAMC2	Jan 01, 2002	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	germline	1	183222181	CGCCATCAAGATGTGTTTAGCTCAGCCCAACGACTAGACCCTGTCTATTTTGTGGCTCCTG
-1	482071	NM_000138.4(FBN1):c.6325C>T (p.Gln2109Ter)	FBN1	Dec 20, 2017	MedGen:CN517202	not provided	germline	15	48437376	ATGAGTGTCTCCACCACAGAGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCG
752164603	358028	NM_000391.3(TPP1):c.640C>T (p.Gln214Ter)	TPP1	Aug 22, 2016	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349	Ceroid lipofuscinosis neuronal 2	unknown	11	6617022	GTGATCCGTAAGCGATACAACTTGACCTCACAAGACGTGGGCTCTGGCACCAGCAATAACA
132630258	26220	NM_002621.2(CFP):c.481C>T (p.Arg161Ter)	CFP	Sep 01, 1995	MedGen:C1839454,OMIM:312060,Orphanet:ORPHA2966	Properdin deficiency, X-linked	germline	X	47627564	ACCTGCTCCAAAGGGACCCGGACCCGCAGGCGAGCCTGTAATCACCCTGCTCCCAAGTGTG
80338744	24496	NM_004525.2(LRP2):c.1093C>T (p.Arg365Ter)	LRP2	Jun 28, 2011	MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143	Donnai Barrow syndrome	germline	2	169282951	TGGGGAATTTGTGACCAGAAGTGTGAAAGCCGACCTGGCCGTCACCTGTGCCACTGTGAAG
398123044	75295	NM_001017979.2(RAB28):c.409C>T (p.Arg137Ter)	RAB28	Jul 11, 2013	MedGen:C3809299,OMIM:615374	Cone-rod dystrophy 18	germline	4	13381577	AACACCTTTCTAGTTGATTTGGAGCATATGCGAACAATAAAACCTGAAAAACACTTACGGT
-1	427480	NM_001009944.2(PKD1):c.6487C>T (p.Arg2163Ter)	PKD1	Feb 22, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003;MedGen:CN169374	Autosomal recessive polycystic kidney disease;not specified	germline	16	2108680	GTGGTCCTGCCCCTGCAGGTGCTGATGCGGCGATCACAGCGCAACTACTTGGAGGCCCACG
122445105	26774	NM_000489.4(ATRX):c.736C>T (p.Arg246Cys)	ATRX	Sep 07, 2017	MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Inborn genetic diseases;not provided	germline	X	77684520	CATAATGCTTTCTGCAAGAAATGCATTCTACGCAACCTTGGTCGAAAGGAGTTGTCCACAA
797045360	209257	NM_000052.6(ATP7A):c.2555C>T (p.Pro852Leu)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78015810	TACAACGTGGAGATATCATTAAAGTAGTTCCAGGAGGCAAATTTCCAGTGGATGGTCGTGT
745368359	377333	NM_173483.3(CYP4F22):c.1084C>T (p.Arg362Ter)	CYP4F22	Apr 29, 2015	MedGen:CN517202	not provided	germline	19	15544227	GCAAAGTATCCGGAATACCAGGAGAAATGCCGAGAAGAGATTCAGGAAGTCATGAAAGGCC
606231297	167524	NM_006254.3(PRKCD):c.1840C>T (p.Arg614Trp)	PRKCD	Apr 18, 2013	MedGen:C3809928,OMIM:615559	Autoimmune lymphoproliferative syndrome, type III	germline	3	53189969	AAGACCATAAACTGGACTCTGCTGGAAAAGCGGAGGTTGGAGCCACCTTTCAGGCCCAAAG
376393123	48255	NM_001904.3(CTNNB1):c.925C>T (p.Gln309Ter)	CTNNB1	Feb 12, 2013	MedGen:C3554449,OMIM:615075,Orphanet:ORPHA404473	Mental retardation, autosomal dominant 19	germline	3	41225850	GACTGCCTTCAAATTTTAGCTTATGGCAACCAAGAAAGCAAGGTAAGAGAATTATTCTTTA
121918314	21305	NM_003921.4(BCL10):c.172C>T (p.Arg58Ter)	BCL10	Nov 23, 2011	MedGen:C3276200	Male germ cell tumor, somatic	somatic	1	85270792	AGTAGAGAAGACACTGAAGAAATTTCTTGTCGAACATCAAGTAGAAAAAGGGCTGGAAAAT
121912642	22547	NM_033343.3(LHX4):c.250C>T (p.Arg84Cys)	LHX4	Mar 01, 2008	MedGen:C2678408,OMIM:262700,Orphanet:ORPHA85442	Pituitary hormone deficiency, combined 4	germline	1	180266393	GCCCTAATCCTTTCCTGCTGCCCTGACAGGCGCTTCGGCACAAAATGCACGGCCTGCCAGC
-1	446655	NM_001193416.2(DDX3X):c.874C>T (p.Arg292Ter)	DDX3X	Sep 14, 2017	MedGen:CN517202	not provided	germline	X	41344248	TAACATTTTTTTTGCTTATAGTTTTCATACCGATCTAGAGTTCGTCCTTGCGTGGTTTATG
11538758	28443	NM_000311.4(PRNP):c.314C>T (p.Pro105Leu)	PRNP	Apr 02, 2013	MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C0017495,OMIM:137440,Orphanet:ORPHA356,SNOMED CT:67155006;MeSH:D030342,MedGen:C0950123	Genetic prion diseases;Gerstmann-Straussler-Scheinker syndrome;Inborn genetic diseases	germline	20	4699534	CCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGC
121434503	23403	NM_006267.4(RANBP2):c.1958C>T (p.Thr653Ile)	RANBP2	Dec 04, 2014	MedGen:C2675556,OMIM:608033,Orphanet:ORPHA88619	Encephalopathy, acute, infection-induced, 3, suceptibility to	germline	2	108753466	TTGTTGAATATGAAGAAGACGCACACATAACTTTTGCTATATTGGATGCAGTAAATGGAAA
387906749	39016	NM_024408.3(NOTCH2):c.7165C>T (p.Gln2389Ter)	NOTCH2	Jan 01, 2012	MedGen:C0917715,OMIM:102500,SNOMED CT:63122002	Hajdu-Cheney syndrome	germline	1	119915557	TCTGTGGGCAAGTACCCCACACCCCCTTCACAGCACAGTTATGCTTCCTCAAATGCTGCTG
267607137	15798	NM_031466.7(TRAPPC9):c.1708C>T (p.Arg570Ter)	TRAPPC9	Feb 03, 2016	MedGen:C2750791,OMIM:613192;MedGen:CN517202	Mental retardation, autosomal recessive 13;not provided	germline	8	140360131	CGTTTGCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTCTGTCA
-1	442947	NM_001271208.1(NEB):c.19405C>T (p.Arg6469Ter)	NEB	Sep 01, 2017	MedGen:CN517202	not provided	germline	2	151554954	GACGATGATCCGAACACAGCACGGTGCCTCCGAGTTGGCAAGCTTAACATCGATGTAAGTA
118204003	16243	NM_000429.2(MAT1A):c.1070C>T (p.Pro357Leu)	MAT1A	Sep 03, 2015	MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009;MedGen:CN517202	Hepatic methionine adenosyltransferase deficiency;not provided	germline	10	80274535	ATGTGGTGCATAAGAACTTCGACCTCCGGCCGGGCGTCATTGTCAGGTAAAGTGCCATGCG
886041716	264045	NM_001165963.1(SCN1A):c.2797C>T (p.His933Tyr)	SCN1A	Feb 02, 2017	MedGen:CN517202	not provided	germline	2	166037925	ATCGCCAGTGATTGTCAACTCCCACGCTGGCACATGAATGACTTCTTCCACTCCTTCCTGA
571038432	200055	NM_172250.2(MMAA):c.988C>T (p.Arg330Ter)	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310;MedGen:CN517202	Methylmalonic aciduria cblA type;not provided	germline	4	145655165	CCTTTTCGATAGGTAATTCGTATTTCTGCCCGAAGTGGAGAGGGGATCTCTGAAATGTGGG
104893705	23380	NM_000388.3(CASR):c.1942C>T (p.Arg648Ter)	CASR	Aug 01, 2004	MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:C1832615,OMIM:239200,Orphanet:ORPHA417	Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism	germline	3	122283896	CGCAACACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCC
121918440	28726	NM_018849.2(ABCB4):c.2869C>T (p.Arg957Ter)	ABCB4	Oct 18, 2017	MedGen:C3554241,OMIM:614972;MedGen:C1865643,OMIM:602347,Orphanet:ORPHA79305	Cholestasis, intrahepatic, of pregnancy 3;Progressive familial intrahepatic cholestasis 3	germline	7	87411948	TTTATGTATTTTTCCTATGCCGGTTGTTTTCGATTTGGTGCATATCTCATTGTGAATGGAC
764342199	396025	NM_000535.6(PMS2):c.1912C>T (p.Gln638Ter)	PMS2	Mar 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	7	5986853	CGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAGT
373442996	359103	NM_002936.4(RNASEH1):c.469C>T (p.Arg157Ter)	RNASEH1	Jul 29, 2015	MedGen:C4225312,OMIM:616479,Orphanet:ORPHA329336	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	germline	2	3550413	TGCTGCTCCAGTAATGGGCGTAGAAGGCCGCGAGCAGGAATCGGCGTTTACTGGGGGCCAG
121918525	25715	NM_031407.6(HUWE1):c.12037C>T (p.Arg4013Trp)	HUWE1	Feb 01, 2008	MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328	Mental retardation, X-linked, syndromic, turner type	germline	X	53537656	CAAGAGCTGGAGCGTTTAGATGAGGGGCTCCGGAAAGAAGACATGGCTGTGCATGTCCGTC
104893757	28644	NM_001122757.2(POU1F1):c.71C>T (p.Pro24Leu)	POU1F1	Dec 15, 1992	MedGen:C2751608,OMIM:613038	Pituitary hormone deficiency, combined 1	germline	3	87276392	CTCTGAATTCTGACGCCTCTGCAACTCTGCCTCTGATAATGCATCACAGTGCTGCCGAGTG
770740586	362420	NM_018713.2(SLC30A10):c.1006C>T (p.His336Tyr)	SLC30A10	Feb 09, 2017	OMIM:613280	Hypermanganesemia with dystonia 1	germline	1	219915901	GTGCCTGGAATTAGCAGTGTACATGAAGTGCACATCTGGGAACTTGTAAGTGGAAAGATTA
137852445	25317	NM_000132.3(F8):c.5422C>T (p.Leu1808Phe)	F8	Dec 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904975	GCCTCTCGTCCCTATTCCTTCTATTCTAGCCTTATTTCTTATGAGGAAGATCAGAGGCAAG
281865004	47664	NM_024312.4(GNPTAB):c.2866C>T (p.His956Tyr)	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101761613	TTTGGATTCACATCGCGGAAAGTCCCTGCTCACATGCCTCACATGATTGACCGGATTGTTA
28934573	27398	NM_000546.5(TP53):c.722C>T (p.Ser241Phe)	TP53	May 26, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MedGen:C0235782;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;Human Phenotype Ontology:HP:0002884,MedGen:C0206624,Orphanet:ORPHA449;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0002669,MeSH:D012516,MedGen:C0029463,OMIM:259500,Orphanet:ORPHA668,SNOMED CT:21708004;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MeSH:C538614,MedGen:C1336078;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006739,MedGen:C0553723;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630	Adenocarcinoma of lung;Brainstem glioma;Carcinoma of esophagus;Carcinoma of gallbladder;Colorectal Neoplasms;Glioblastoma;Hepatoblastoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Malignant lymphoma, non-Hodgkin;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Osteosarcoma;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	germline;somatic	17	7674241	CCATCCACTACAACTACATGTGTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCAT
80358529	46355	NM_000059.3(BRCA2):c.274C>T (p.Gln92Ter)	BRCA2	Nov 11, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline;somatic	13	32319283	AAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCA
137853063	22536	NM_003384.2(VRK1):c.1072C>T (p.Arg358Ter)	VRK1	Jul 10, 2017	MeSH:D030342,MedGen:C0950123;MedGen:C0000772,SNOMED CT:116022009,SNOMED CT:444406006;Gene:100852400,MedGen:C1843504,OMIM:607596;MedGen:CN517202	Inborn genetic diseases;Multiple congenital anomalies;Pontocerebellar hypoplasia type 1A;not provided	germline	14	96876033	CTCTCTCTCTTTAATTTTATATGTAAGAAGCGAAAGAAAGAAATTGAAGAAAGCAAGGAAC
121909555	33056	NM_000488.3(SERPINC1):c.1316C>T (p.Pro439Leu)	SERPINC1	Aug 09, 1988	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173903968	CCAACAGGGTGACTTTCAAGGCCAACAGGCCTTTCCTGGTTTTTATAAGAGAAGTTCCTCT
794727333	192720	NM_000276.3(OCRL):c.2299C>T (p.Gln767Ter)	OCRL	May 28, 2014	MedGen:C1845167,OMIM:300555,Orphanet:ORPHA93623;MedGen:C0028860,OMIM:309000,Orphanet:ORPHA534,SNOMED CT:79385002	Dent disease 2;Lowe syndrome	germline	X	129588221	CAGACCCCTGGAATGCAGGAAGAGCTCCAGCAGATCATTGATTGTCTGGATACCAGCATTC
397514590	48385	NM_003036.3(SKI):c.103C>T (p.Pro35Ser)	SKI	Feb 01, 2015	MedGen:C1321551,OMIM:182212,SNOMED CT:83092002	Shprintzen-Goldberg syndrome	de novo;germline	1	2228869	CACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGG
140630	197685	NM_000138.4(FBN1):c.4930C>T (p.Arg1644Ter)	FBN1	Jan 17, 2017	MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48465580	CCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGATGGTAAATGGTCCTGGTAGG
72657316	229575	NM_001277115.1(DNAH11):c.4333C>T (p.Arg1445Ter)	DNAH11	Jan 07, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21619178	CTGCGGTTACACAGAGTGGAAGATGATGTCCGAAGGATTGTGGACAAGGCGGTGAAAGAGC
386833951	71152	NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter)	NPHS1	Oct 17, 2016	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	unknown	19	35850440	CCTCTAGCCCTCTTGCTGCCCCAAGGTGGACAGACAATATCTGACATCTCTGCAAACGTGA
121434496	23066	NM_003073.4(SMARCB1):c.544C>T (p.Gln182Ter)	SMARCB1	Mar 04, 2014	MedGen:C4016745	Schwannomatosis 1, somatic	somatic	22	23803338	GACCCAGCTGTGATCCATGAGAACGCATCTCAGCCCGAGGTGCTGGTCCCCATCCGGCTGG
-1	461452	NM_000051.3(ATM):c.4609C>T (p.Gln1537Ter)	ATM	Jul 13, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108292791	CTTGTGTATGAGCAGGTGGAGGTTCAGAAACAGGTAATTTTCTGACTCATCTTCAAAATGG
199473002	78299	NM_000238.3(KCNH2):c.2477C>T (p.Thr826Ile)	KCNH2	Jun 12, 2013	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150948971	GCAAGTCGAACGGGGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGA
530348521	260264	NM_003560.3(PLA2G6):c.2221C>T (p.Arg741Trp)	PLA2G6	Jul 27, 2016	MedGen:CN517202	not provided	germline	22	38112559	GCTTCTCACCAGTGCACGGATCCAGACGGGCGGGCTGTGGACCGGGCACGGGCCTGGTGCG
764769351	440124	NM_001080463.1(DYNC2H1):c.1078C>T (p.Arg360Ter)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	paternal	11	103120525	GCCAGTGAAGAGAAAATCATATGCCTCACTCGAGTATTTGAACCTTTTACTGGCCTGAATC
1060501035	400257	NM_000138.4(FBN1):c.592C>T (p.Gln198Ter)	FBN1	Dec 21, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48537755	ACTGTGATCAGCAACCAGATGTGCCAGGGACAACTCAGCGGGATTGTCTGCACAAAAACGC
770284675	483118	NM_178170.2(NEK8):c.1384C>T (p.Arg462Ter)	NEK8	Feb 14, 2018	MedGen:C3809434,OMIM:615415	Renal-hepatic-pancreatic dysplasia 2	germline	17	28739168	GCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACA
118192150	76897	NM_000540.2(RYR1):c.14677C>T (p.Arg4893Trp)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38584973	TGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCG
372174845	264411	NM_017780.3(CHD7):c.3655C>T (p.Arg1219Ter)	CHD7	Dec 28, 2015	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	germline;unknown	8	60830454	GAGCTAACAAACATTCAGAAGAAATATTACCGAGCCATCCTTGAGAAGAATTTCACATTTC
753698250	225801	NM_000709.3(BCKDHA):c.940C>T (p.Arg314Ter)	BCKDHA	Jan 01, 2011	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	19	41422715	TTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCT
398124471	102246	NM_133433.3(NIPBL):c.7219C>T (p.Arg2407Ter)	NIPBL	Apr 07, 2017	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37052522	TCCATGATCCGTGGAAACCGCCAACACAGACGAGCCTTTCTTATTTCTTTACTCAACCTCT
121964897	27233	NM_001166120.1(HSD3B2):c.1022C>T (p.Pro341Leu)	HSD3B2	Apr 01, 2008	MedGen:C0342471,OMIM:201810,SNOMED CT:54470008	3 beta-Hydroxysteroid dehydrogenase deficiency	germline	1	119422523	AGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAA
398123773	100186	NM_003494.3(DYSF):c.2311C>T (p.Gln771Ter)	DYSF	Apr 08, 2013	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71561900	GGCCACAGTGAGCTCCCTGCAGCTCTGGAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGTG
886039222	259248	NM_001204.6(BMPR2):c.1469C>T (p.Ala490Val)	BMPR2	Jul 11, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202552771	TCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGCACAGTGTGCTGAGGAAAG
61749387	15328	NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282971,Orphanet:ORPHA166087	not provided;von Willebrand disease, type 2b	germline	12	6019496	GCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCG
769603144	414368	NM_001204.6(BMPR2):c.2737C>T (p.Q913*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202556402	AATAACAACAACAGCAATCCATGTTCAGAACAAGATGTTCTTGCACAGGGTGTTCCAAGCA
72648326	414011	NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)	COL1A1	Jun 21, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:CN517202	Osteogenesis imperfecta type I;not provided	germline;paternal	17	50195288	ATTGCTGGTGCTCCTGGCTTCCCTGGTGCCCGAGGCCCCTCTGGACCCCAGGGCCCCGGCG
119468005	18676	NM_020247.4(COQ8A):c.637C>T (p.Arg213Trp)	COQ8A	Jun 07, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4	germline	1	226965719	GAGCGGAAGGTGCCTGTGACGAGGATTGGCCGGCTGGCCAACTTCGGAGGTAAGGTGGCTG
80356688	33900	NM_000083.2(CLCN1):c.847C>T (p.Leu283Phe)	CLCN1	Apr 12, 2011	MedGen:C0027127,Orphanet:ORPHA206973	Myotonia congenita	not provided	7	143324486	GTGGGAGTCGGCTGTTGTTTTGGGACACCACTTGGAGGCAAGTGATTGACCCCCTCCCCCA
483353070	143141	NM_001164342.2(ZBTB20):c.1861C>T (p.Leu621Phe)	ZBTB20	Aug 01, 2014	MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042	Primrose syndrome	de novo;germline	3	114339370	TGTTGGCGCTCCTTCTCCTTAAAGGATTACCTTATCAAGCACATGGTGACACACACAGGAG
143312232	186842	NM_001360.2(DHCR7):c.461C>T (p.Thr154Met)	DHCR7	Apr 07, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline;unknown	11	71441392	AGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCAAACGCTCATCT
121918176	15936	NM_000181.3(GUSB):c.1831C>T (p.Arg611Trp)	GUSB	Jan 01, 1993	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65961022	GTGCTGGGGAATAAAAAGGGGATCTTCACTCGGCAGAGACAACCAAAAAGTGCAGCGTTCC
756231749	440687	NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter)	COL4A3	Aug 19, 2016	MedGen:CN517202	not provided	germline	2	227310845	GCCTCCCCTGGCTCCTGCCTGGAAGAATTCCGAGCCAGCCCATTTCTAGAATGTCATGGAA
797045200	206605	NM_024531.4(SLC52A2):c.700C>T (p.Gln234Ter)	SLC52A2	Mar 17, 2015	MedGen:C3553538,OMIM:614707	Brown-Vialetto-Van Laere syndrome 2	germline	8	144360192	GTACCCACAGGGGAGTTAGGATCAGGCCTCCAGGTGGGAGCCCCAGGAGCAGAGGAAGAGG
397514400	36395	NM_000060.4(BTD):c.1106C>T (p.Pro369Leu)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644962	GTAAGTTTTTAAAAATTTTGTCAGGCGATCCGTACTGTGAGAAGGATGCTCAGGAAGTCCA
387906848	39258	NM_004656.3(BAP1):c.2050C>T (p.Gln684Ter)	BAP1	Feb 23, 2017	MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539;MedGen:CN517202	Tumor susceptibility linked to germline BAP1 mutations;not provided	germline	3	52402608	TTCATCTGCACCTTTATCTCCATGCTGGCTCAGGAAGGTGAGGGGATGCGCTGCTGTCTTA
794728403	197153	NM_000238.3(KCNH2):c.3040C>T (p.Arg1014Ter)	KCNH2	Dec 25, 2016	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	7	150947440	AGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCA
387907139	40164	NM_018838.4(NDUFA12):c.178C>T (p.Arg60Ter)	NDUFA12	Nov 01, 2011	MedGen:C1838951	Leigh syndrome due to mitochondrial complex I deficiency	germline	12	94994249	AAATGTTCATCTTCCCACCCAGGCCGTCACCGATGGGTTGTATATACTACTGAAATGAATG
794726781	187708	NM_001165963.1(SCN1A):c.5461C>T (p.Gln1821Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	165991814	GTTTGGGAGAAGTTTGATCCCGATGCAACTCAGTTCATGGAATTTGAAAAATTATCTCAGT
397514741	75278	NM_006772.2(SYNGAP1):c.427C>T (p.Arg143Ter)	SYNGAP1	Jan 05, 2015	MedGen:C2675473,OMIM:612621	Mental retardation, autosomal dominant 5	germline	6	33432724	CTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGA
797045282	207384	NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter)	ARID1B	Jun 25, 2014	MedGen:C3281201,OMIM:614562	Mental retardation, autosomal dominant 12	germline	6	157206545	GTCAAAAAGAACAACCTGTTTGTTGTTGACCGATCTGACAAGTTGGGGCGTGTGCAGGAGT
876659825	460605	NM_000051.3(ATM):c.3382C>T (p.Gln1128Ter)	ATM	Apr 25, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108279588	ACAGCTTTTGAAAATGCATACTTGAAAGCTCAGGAAGGAATGAGAGAAATGGTAATTTTAA
137852626	24403	NM_000215.3(JAK3):c.1333C>T (p.Arg445Ter)	JAK3	Jan 01, 2000	MedGen:C1833275,OMIM:600802,Orphanet:ORPHA35078	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	germline	19	17839585	ACAGGAACCTTCCTTCTGGTTGGCCTCAGCCGACCCCACAGCAGTCTTCGAGAGCTCCTGG
397509425	75124	NM_021971.2(GMPPB):c.553C>T (p.Arg185Cys)	GMPPB	May 23, 2017	MedGen:CN229783,Orphanet:ORPHA370953;MedGen:C3809216,OMIM:615350;MedGen:C3809221,OMIM:615351;MedGen:C3809221,OMIM:615351;MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623;MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623	Muscular dystrophy-dystroglycanopathy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	germline;unknown	3	49722604	ATGTACATCCTGAGCCCTGCAGTGCTGCAGCGCATCCAGGTGTGTAGGAGACAGCTGTTGG
-1	482101	NM_002968.2(SALL1):c.814C>T (p.Gln272Ter)	SALL1	Nov 27, 2017	MedGen:CN517202	not provided	germline	16	51141408	GCAGACTTGCCAACATCTTCTAGTCCTTCTCAAGGTACTTTACGAACATCTGCCAACCCCT
63750502	96736	NM_000251.2(MSH2):c.970C>T (p.Gln324Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline;unknown	2	47416323	TAGGGTTCTGTTGAAGATACCACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTA
797044810	204267	NM_000084.4(CLCN5):c.1039C>T (p.Arg347Ter)	CLCN5	Mar 29, 2016	MedGen:C1848336,OMIM:300009;MedGen:CN517202	Dent disease 1;not provided	germline	X	50086562	ATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGGCAAGTATCCTG
1056396947	389231	NM_001142769.2(PCDH15):c.4726C>T (p.Gln1576Ter)	PCDH15	Jun 04, 2016	MedGen:C1836027,OMIM:609533	Deafness, autosomal recessive 23	germline	10	53809339	GGAATCGTTGACCTTGAGGGTGAAGAGTGGCAGAGACGCCTTGAGGAAGAAGATAAAGATT
121908490	20808	NM_003919.2(SGCE):c.304C>T (p.Arg102Ter)	SGCE	Apr 28, 2017	MedGen:C1834570,OMIM:159900,Orphanet:ORPHA36899,SNOMED CT:439732004	Myoclonic dystonia	germline	7	94628288	ATGGGTTACCCAGACCGACCTGGATGGCTTCGATATATCCAAAGGACACCATATAGTGATG
28942095	18458	NM_006147.3(IRF6):c.1198C>T (p.Arg400Trp)	IRF6	Sep 01, 2010	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209788626	TGTCCTGAACAGGTCATTCCAGTAGTGGCTCGGATGATCTACGAGATGTTTTCTGGTGATT
-1	481695	NM_000094.3(COL7A1):c.7462C>T (p.Gln2488Ter)	COL7A1	Oct 18, 2016	MedGen:CN517202	not provided	germline	3	48570157	ACCATCCAGGGTGAAGATGGCCGCCCCGGCCAGGAGGGACCCCGAGGACTCACGGTGGGTC
587784154	168227	NM_022455.4(NSD1):c.5740C>T (p.Arg1914Cys)	NSD1	May 26, 2016	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177280682	CCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAG
387907039	39827	NM_024306.4(FA2H):c.703C>T (p.Arg235Cys)	FA2H	Apr 01, 2010	MedGen:C3668943,OMIM:612319,Orphanet:ORPHA329308	Spastic paraplegia 35	germline	16	74719071	CTCTGGAGCCTCATCGAGTACCTCATCCACCGCTTCCTGTTCCACATGAAGCCCCCCAGCG
587784571	168031	NM_014795.3(ZEB2):c.904C>T (p.Arg302Ter)	ZEB2	Jun 15, 2017	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152;MedGen:CN517202	Mowat-Wilson syndrome;not provided	germline;unknown	2	144401211	AAATATAAACACCATCTGAAAGAACACCTGCGAATTCACAGTGGTGAGTAGCAGAGGTGCT
777830265	260248	NM_006031.5(PCNT):c.1843C>T (p.Gln615Ter)	PCNT	Jun 04, 2015	MedGen:CN517202	not provided	germline	21	46355533	CTGGAAGCGCTGGAGTCTCCCCTCTGCATCCAGCACGAGGGGCATGTCTCAGACAGATGCT
771853367	448447	NM_000642.2(AGL):c.3652C>T (p.Arg1218Ter)	AGL	Nov 08, 2016	MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease type III	germline	1	99902746	ATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATC
28937899	34562	NM_025136.3(OPA3):c.415C>T (p.Gln139Ter)	OPA3	Mar 31, 2009	MedGen:C0574084,OMIM:258501,Orphanet:ORPHA67047,SNOMED CT:297232009	3-Methylglutaconic aciduria type 3	not provided	19	45553639	CTGGCGCTGGCGCTGGAAGCGCTGCAGGCGCAGGTGCAGGCGGCGCCGCCACAGGGCGCCC
137852845	17704	NM_182760.3(SUMF1):c.979C>T (p.Arg327Ter)	SUMF1	May 16, 2003	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003	Multiple sulfatase deficiency	germline	3	4376365	CTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCC
796052976	201580	NM_001165963.1(SCN1A):c.1348C>T (p.Gln450Ter)	SCN1A	Mar 31, 2017	MedGen:CN517202	not provided	germline	2	166046799	AAAGAGGCCGAATTTCAGCAGATGATTGAACAGCTTAAAAAGCAACAGGAGGCAGCTCAGG
112989722	31488	NM_000138.4(FBN1):c.6354C>T (p.Ile2118=)	FBN1	Jun 07, 2017	MedGen:CN229799;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48437347	CCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGACCTGATGATTCAGCAGTTGGTCAG
-1	447253	NM_170707.3(LMNA):c.877C>T (p.Gln293Ter)	LMNA	Apr 21, 2017	MedGen:CN043576	Charcot-Marie-Tooth disease, type 2	germline	1	156135253	AACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCT
61752411	105067	NM_000350.2(ABCA4):c.2948C>T (p.Thr983Ile)	ABCA4	May 31, 2017	MedGen:CN517202	not provided	germline	1	94044715	GGTCCATCCTGACGGGTCTGTTGCCACCAACCTCTGGGACTGTGCTCGTTGGGGGAAGGGA
80356681	33855	NM_000228.2(LAMB3):c.727C>T (p.Gln243Ter)	LAMB3	Sep 16, 2016	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006;MedGen:CN517202	Junctional epidermolysis bullosa gravis of Herlitz;not provided	germline	1	209632678	CACCCTCCCAGCGCCTACTATGCTGTGTCCCAGCTCCGTCTGCAGGGGAGCTGCTTCTGTC
121909775	22805	NM_032977.3(CASP10):c.769C>T (p.Gln257Ter)	CASP10	Jun 01, 2002	Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007	Malignant lymphoma, non-Hodgkin;Neoplasm of stomach	somatic	2	201205929	GGTGCACCAAGCCTGGTCTCCAGGGGGATGCAAGGAGCATCTGCTAACACTCTAAACTCTG
1131692042	423405	NM_006013.4(RPL10):c.191C>T (p.Ala64Val)	RPL10	Jul 05, 2017	MedGen:CN298079,OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35	germline	X	154399803	CACTTTGCTGCTTTTCTTCTCCCTACCTAGCCCTGGAGGCTGCCCGAATTTGTGCCAATAA
772872014	259341	NM_001242896.1(DEPDC5):c.727C>T (p.Arg243Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31792777	GAATTTCCTGAAATAAACCGAGCCTCAATTCGACAGGATCACAAGGGGAGATTCTATGAAG
754242209	260023	NM_000424.3(KRT5):c.1675C>T (p.Arg559Ter)	KRT5	Jul 20, 2016	MedGen:CN517202	not provided	germline	12	52515040	GGGGGCTCTGGCTTCAGTGCAAGCAGTGGCCGAGGGCTGGGGGTGGGCTTTGGCAGTGGCG
147195031	44782	NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys)	FBN1	Feb 23, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C4016059;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Marfan syndrome;Marfan syndrome, autosomal recessive;Thoracic aortic aneurysm and aortic dissection	germline	15	48420780	TCAGACGTGGACGAGTGTGAGGGTAACCACCGCTGCCAGCATGGCTGCCAGAACATCATTG
398124536	102378	NM_144997.5(FLCN):c.346C>T (p.Gln116Ter)	FLCN	Jan 20, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas;not provided	germline	17	17226226	TACGTCAGCCACCAGCACCCCAGCCACCCCCAGCTCTTCAGCATTGTCCGCCAGGCCTGTG
112645512	178700	NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter)	FBN1	Feb 24, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48516225	TTTCCTCCTGGACCTCAAATTCCGGTCCCTCGACCACCAGTGGAATATCTGTATCCATCTC
72547551	213917	NM_003119.3(SPG7):c.1715C>T (p.Ala572Val)	SPG7	Jul 31, 2017	MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013;MedGen:CN517202	Spastic paraplegia 7;not provided	germline	16	89550545	TCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGG
398122995	98152	NM_015120.4(ALMS1):c.1900C>T (p.Gln634Ter)	ALMS1	-	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009;MedGen:CN517202	Alstrom syndrome;not provided	germline	2	73448424	TCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCG
61046466	29516	NM_170707.3(LMNA):c.16C>T (p.Gln6Ter)	LMNA	Jun 02, 2011	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Primary dilated cardiomyopathy;not provided	germline	1	156114934	GCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGG
397518474	94315	NM_004667.5(HERC2):c.1781C>T (p.Pro594Leu)	HERC2	Feb 01, 2013	MedGen:C3809753,OMIM:615516,Orphanet:ORPHA329195	Mental retardation, autosomal recessive 38	germline	15	28265707	TTGAAGGCTCCAGTGAGGACGAGGCCATTCCGATGCTGGTAGCCGGGCTTAAAGGACTGAA
104894364	27627	NM_004985.4(KRAS):c.173C>T (p.Thr58Ile)	KRAS	Jul 13, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1860991,OMIM:609942;MedGen:CN517202	Noonan syndrome;Noonan syndrome 3;not provided	germline	12	25227351	GAGAAACCTGTCTCTTGGATATTCTCGACACAGCAGGTCAAGAGGAGTACAGTGCAATGAG
587783137	166521	NM_004992.3(MECP2):c.568C>T (p.Arg190Cys)	MECP2	Jun 12, 2015	MedGen:CN517202	not provided	germline	X	154031260	AAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCA
202088921	190414	NM_003060.3(SLC22A5):c.136C>T (p.Pro46Ser)	SLC22A5	Nov 07, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202;MedGen:CN169374	Renal carnitine transport defect;not provided;not specified	germline;unknown	5	132370108	GGCCTGTCCTCCGTGTTCCTGATAGCGACCCCGGAGCACCGCTGCCGGGTGCCGGACGCCG
587777343	132644	NM_005861.3(STUB1):c.737C>T (p.Thr246Met)	STUB1	Feb 15, 2014	MedGen:C4014261,OMIM:615768,Orphanet:ORPHA412057	Spinocerebellar ataxia, autosomal recessive 16	germline	16	682232	GCTTTGAGCTGATGCGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGA
796052652	203725	NM_172107.3(KCNQ2):c.1682C>T (p.Pro561Leu)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	germline	20	63413531	CCAAGCGGAAGTTCAAGGAGAGCCTGCGGCCCTACGACGTGATGGACGTCATCGAGCAGTA
1085307111	362584	NM_033068.2(ACP4):c.746C>T (p.Pro249Leu)	ACP4	Oct 28, 2016	MedGen:C4310630,OMIM:617297	Amelogenesis imperfecta, type IJ	germline	19	50793784	CTTTGGATATTGGAGCCCACGTGGGCCCACCCCGGGCAGCAGAGAAGGCCCAGCTGACAGG
17221854	18181	NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys)	KCNQ1	Oct 18, 2013	MedGen:C1843738;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Acquired susceptibility to long QT syndrome 1;Congenital long QT syndrome;Long QT syndrome 1;not provided	germline	11	2777990	GTTTTATCCCCCATAGAAAAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGA
387907006	39727	NM_005461.4(MAFB):c.209C>T (p.Ser70Leu)	MAFB	Mar 09, 2012	MedGen:C2674705,OMIM:166300,Orphanet:ORPHA2774	Multicentric osteolysis nephropathy	germline	20	40688642	TCAGCACTCCGTGTAGCTCCGTGCCCTCGTCGCCCAGCTTCAGCCCGACCGAACAGAAGAC
797044520	200407	NM_001396.3(DYRK1A):c.1399C>T (p.Arg467Ter)	DYRK1A	Jul 13, 2017	MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;MedGen:CN517202	Mental retardation, autosomal dominant 7;not provided	de novo;germline	21	37505442	TTAAGGATGCTTGATTATGACCCCAAAACTCGAATTCAACCTTATTATGCTCTGCAGCACA
312262794	49684	NM_024408.3(NOTCH2):c.1180C>T (p.Pro394Ser)	NOTCH2	Feb 28, 2013	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629	Alagille syndrome 2	not provided	1	119968161	TGCCACAAGGGGGCACTGTGTGACACCAACCCCCTAAATGGGCAATATATTTGCACCTGCC
886041341	265007	NM_000430.3(PAFAH1B1):c.337C>T (p.Arg113Ter)	PAFAH1B1	Sep 26, 2016	MedGen:CN517202	not provided	germline	17	2667136	GCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTA
121917871	15497	NM_000097.5(CPOX):c.85C>T (p.Gln29Ter)	CPOX	Nov 16, 1998	MedGen:C0342856,SNOMED CT:190915002	Coproporphyria	germline	3	98593420	GGCGGCTGCGGAGGGCCCCGCGCCTGGTCCCAGTGCGGCGGCGGAGGGCTCCGAGCCTGGT
754032480	201638	NM_001165963.1(SCN1A):c.82C>T (p.Arg28Cys)	SCN1A	May 29, 2013	MedGen:CN517202	not provided	germline	2	166073540	ACCAGAGAATCTCTTGCGGCTATTGAAAGACGCATTGCAGAAGAAAAGGCAAAGAATCCCA
121909071	22017	NM_183233.2(SLC22A18):c.698C>T (p.Ser233Phe)	SLC22A18	Sep 15, 1998	MedGen:C0684249,OMIM:211980,SNOMED CT:187875007	Lung cancer	somatic	11	2918030	CCAGTGTGTTCGACCTGAAGGCCATCGCCTCCCTGCTGCGGCTGCCAGACGTCCCGAGGAT
-1	444572	NM_001005463.2(EBF3):c.469C>T (p.His157Tyr)	EBF3	Aug 04, 2017	MedGen:CN517202	not provided	germline	10	129958950	AACCCGGAGATGTGCCGTGTGCTGCTGACCCACGAGATCATGTGCAGGTGAGCGGCGGGCG
886042154	265649	NM_004006.2(DMD):c.5032C>T (p.Gln1678Ter)	DMD	Jun 17, 2015	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32364704	ATGGTATGTCTCTGTACAATTAAGGAATACCAGAAACACATGGAAACTTTTGACCAGAATG
121913637	29143	NM_000257.3(MYH7):c.2155C>T (p.Arg719Trp)	MYH7	Aug 01, 2017	MedGen:CN230736;MedGen:C3495498,OMIM:192600;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23425971	TTCCCCAACCGCATCCTCTACGGGGACTTCCGGCAGAGGTGGGTATGAGGGTGCACCAGAG
281874705	35905	NM_000495.4(COL4A5):c.2782C>T (p.Gln928Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108622690	CACACATTGATTTTAGGTGATGATGGCTTGCAGGGTCAGCCAGGACTTCCTGGCCCTACAG
761451474	362091	NM_014855.2(AP5Z1):c.616C>T (p.Arg206Trp)	AP5Z1	Jan 26, 2017	MedGen:C3150901,OMIM:613647,Orphanet:ORPHA306511	Spastic paraplegia 48, autosomal recessive	germline	7	4783793	TCCGGCGGCTTCTTCTCCACGCCCAGGGCCCGGCAGGTGAGGCTGGGACTGTTCTGGAACC
886042983	269161	NM_004006.2(DMD):c.457C>T (p.Gln153Ter)	DMD	Dec 14, 2015	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32816541	TGGGTCCGACAATCAACTCGTAATTATCCACAGGTTAATGTAATCAACTTCACCACCAGCT
753529924	485766	NM_001042492.2(NF1):c.541C>T (p.Gln181Ter)	NF1	Sep 25, 2015	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31169952	AATGTTGATGTTCATGATATAGAATTGTTACAGTATATCAATGTGGATTGTGCAAAATTAA
587783613	170127	NM_006579.2(EBP):c.328C>T (p.Arg110Ter)	EBP	Feb 08, 2013	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48527015	TCAGGGAAAGAGTATGCCAAGGGAGACAGCCGATACATCCTGTAAGTGTTTGCCTCTGTCA
886039802	260918	NM_033028.4(BBS4):c.172C>T (p.Gln58Ter)	BBS4	-	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	germline	15	72712259	TTCTCCCTCTTTCAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAAT
1085307443	414421	NM_001013703.3(EIF2AK4):c.3244C>T (p.Q1082*)	EIF2AK4	-	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	40003201	TATTTTTTCTCATTTGGTGTAGGAGCTGTTCAGTTGTGTACTCCACTACTGCTTCCCCGAA
370432633	39318	NM_003921.4(BCL10):c.488C>T (p.Thr163Met)	BCL10	Nov 23, 2011	Gene:8093,MedGen:C0153594,OMIM:273300,SNOMED CT:363449006	Malignant tumor of testis	somatic	1	85267841	TGTACCATCCAGAAGGAGAATCCAGCACGACGCCCTTTTTTTCTACTAATTCTTCTCTGAA
387906514	27514	NM_003239.4(TGFB3):c.*495C>T	TGFB3	Feb 01, 2005	MedGen:C1862511,OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial 1	germline	14	75958692	CATTTTTTTTTTTTTTTTAAAGACAGGTTACGAAGACAAAGTCCCAGAATTGTATCTCATA
121917856	23909	NM_002181.3(IHH):c.137C>T (p.Pro46Leu)	IHH	Apr 01, 2003	MedGen:C1843096,OMIM:607778,Orphanet:ORPHA63446	Acrocapitofemoral dysplasia	germline	2	219060331	GCCGCCGGCGACCGCCACGCAAACTCGTGCCGCTCGCCTACAAGCAGTTCAGCCCCAATGT
28937569	22520	NM_001540.4(HSPB1):c.545C>T (p.Pro182Leu)	HSPB1	Jan 15, 2006	MedGen:C2608087,OMIM:608634	Distal hereditary motor neuronopathy type 2B	germline	7	76304100	TAGCCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAGCTTGG
397514862	75742	NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter)	TSC1	May 23, 2017	MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	germline	9	132902607	GAGGAATTCTACAACCAGAGCCAGGAATTACAGGTATAAACTGCAGCACCAGGCAAAGCCA
757106110	409327	NM_005902.3(SMAD3):c.1102C>T (p.Arg368Ter)	SMAD3	Aug 24, 2017	MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	67187457	CAGGGCTTTGAGGCTGTCTACCAGTTGACCCGAATGTGCACCATCCGCATGAGCTTCGTCA
796052458	202805	NM_005249.4(FOXG1):c.217C>T (p.Gln73Ter)	FOXG1	Dec 17, 2013	MedGen:CN517202	not provided	germline	14	28767496	CCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGC
184474885	172155	NM_004208.3(AIFM1):c.1030C>T (p.Leu344Phe)	AIFM1	Aug 01, 2015	Gene:751798,MedGen:C1845095,OMIM:300614,Orphanet:ORPHA139583	Deafness, X-linked 5	germline;unknown	X	130137123	TTCCCCGAGAAAGGAAATATGGGAAAGATCCTCCCCGAATACCTCAGCAACTGGACCATGG
199470484	59482	NM_012330.3(KAT6B):c.5389C>T (p.Arg1797Ter)	KAT6B	Apr 01, 2013	MedGen:C1863557,OMIM:603736,Orphanet:ORPHA3047;MedGen:CN517202	Young Simpson syndrome;not provided	germline;unknown	10	75030213	ACGAGCAACGCCAACATTGGCTTATACGAGCGAATGGGTCAGAGTGATTTTGGGGCTGGGC
786201042	181998	NM_000179.2(MSH6):c.10C>T (p.Gln4Ter)	MSH6	Aug 09, 2017	Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1833477,OMIM:614350;MedGen:C1833477,OMIM:614350;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008;MedGen:CN517202	Endometrial carcinoma;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Turcot syndrome;not provided	germline;unknown	2	47783243	TGGGCCTTGCCGGCTGTCGGTATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGT
72554330	103031	NM_000531.5(OTC):c.232C>T (p.Gln78Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369811	GTCCTTGATTTATAGTATTTGCCTTTATTGCAAGGGAAGTCCTTAGGCATGATTTTTGAGA
-1	427468	NM_001009944.2(PKD1):c.8095C>T (p.Gln2699Ter)	PKD1	May 03, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	16	2104564	CACAAGCTGGAGGCCATGATGCTCATCCTGCAGGCAGAGACCACCGCGGGCACCGTGACGC
879255531	247390	NM_024757.4(EHMT1):c.673C>T (p.Arg225Ter)	EHMT1	Jul 14, 2016	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494;MedGen:CN517202	Chromosome 9q deletion syndrome;not provided	de novo;germline	9	137728379	CATGCAGCCAGTAAAGATCCCAGAGAAGTTCGAGAAGCTAGAGATCATAAGGAACCAAAAG
398123012	49924	NM_020944.2(GBA2):c.1888C>T (p.Arg630Trp)	GBA2	Mar 07, 2017	MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006;MedGen:C2828721,OMIM:614409,Orphanet:ORPHA320391	Hereditary spastic paraplegia;Spastic paraplegia 46, autosomal recessive	germline;inherited	9	35738811	CTGAACCTGAAGTTTGTGCTGCAGGTTTATCGGGACTATTACCTCACGGGTGATCAAAACT
587779607	107070	NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter)	COL3A1	Mar 06, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188992208	TTTTAGGGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCAGTAAGTAACT
-1	445961	NM_030632.2(ASXL3):c.3964C>T (p.Gln1322Ter)	ASXL3	Sep 08, 2017	MedGen:CN517202	not provided	germline	18	33743812	TCCAGCATATCAAGCTCCATGGATGATAAGCAGTTACTAATATCAAGCAGCAGTGCTAGTA
768509996	445981	NM_017653.4(DYM):c.208C>T (p.Arg70Ter)	DYM	Oct 31, 2017	MedGen:CN517202	not provided	germline	18	49379744	TTTTCTTCTCTTGCAGTTGAAAACAATCCTCGAACAGGAAATCTTGGTGCACTAATTAAGG
397515558	76600	NM_005629.3(SLC6A8):c.1631C>T (p.Pro544Leu)	SLC6A8	Aug 18, 2011	MedGen:C1845862,OMIM:300352,Orphanet:ORPHA52503	Creatine deficiency, X-linked	not provided	X	153694753	TCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCC
794727293	192482	NM_017780.3(CHD7):c.469C>T (p.Arg157Ter)	CHD7	Feb 17, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202;MedGen:CN169374	CHARGE association;not provided;not specified	germline	8	60741901	CCCAGGGCTGTTCAGGTACCAGACCAGATACGAGCCCCCTACCAGCAGCAGCAGCCACAGC
-1	454970	NM_001182.4(ALDH7A1):c.796C>T (p.Arg266Ter)	ALDH7A1	Jul 27, 2017	MedGen:C1849508,OMIM:266100	Pyridoxine-dependent epilepsy	germline	5	126568334	CCTTGCAGCACAGCAATGGCCAAAGATGAACGAGTGAACCTGCTGTCCTTCACTGGGAGCA
149150736	200682	NM_138413.3(HOGA1):c.907C>T (p.Arg303Cys)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97611582	GACTGGTTTGGCTACTATGGAGGCCCCTGCCGCGCCCCCTTGCAGGAGCTGAGCCCCGCTG
121918115	32845	NM_004320.4(ATP2A1):c.2366C>T (p.Pro789Leu)	ATP2A1	May 01, 2000	MedGen:C1832918,OMIM:601003,Orphanet:ORPHA53347	Brody myopathy	germline	16	28902228	CTGCCCTGGGGCTGCCTGAGGCCCTGATCCCGGTGCAGCTGCTATGGGTGAACTTGGTGAC
398123008	48177	NM_003647.2(DGKE):c.127C>T (p.Gln43Ter)	DGKE	Feb 01, 2013	MedGen:C3554330,OMIM:615008	Nephrotic syndrome, type 7	germline	17	56834922	CCGGTGTTCATCACCTTCTGGTGTAGCCTCCAGCGGTCGCGCCGGCAGCTGCACCGCAGGG
72554323	103020	NM_000531.5(OTC):c.179C>T (p.Ser60Leu)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367392	GAGAAGAAATTAAATATATGCTATGGCTATCAGCAGATCTGAAATTTAGGATAAAACAGAA
121434430	21728	NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu)	CUBN	Jul 15, 2000	MedGen:C4016819;MedGen:C1306856,OMIM:261100,Orphanet:ORPHA35858,SNOMED CT:34925000	Megaloblastic anemia 1, Finnish type;Megaloblastic anemia due to inborn errors of metabolism	germline	10	17041160	CCTATGGCATCTTAGAGAGTATAGGGTATCCGAATCCTTATTCTGAAAATCAGCATTGCAA
281874753	36126	NM_000495.4(COL4A5):c.5020C>T (p.Arg1674Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108696340	GAAACGCTGAAAGCAGGAGACTTGAGGACACGAATTAGCCGATGTCAAGTGTGCATGAAGA
869025309	223670	NM_001002020.2(PUS1):c.799C>T (p.Arg267Trp)	PUS1	Feb 10, 2016	MedGen:C1838103,OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	germline	12	131941630	AAGGGCCAGAGCTTCATGATGCATCAGATCCGGAAGATGGTCGGCCTGGTGGTGGCCATTG
535289422	227199	NM_002016.1(FLG):c.7189C>T (p.Gln2397Ter)	FLG	Mar 18, 2016	MedGen:C0079584,OMIM:146700	Ichthyosis vulgaris	germline	1	152307697	GGACAGGCTGGGCCCCATCAGCAGAGCCACCAAGAGTCCACACGTGGCCGGTCAGCAGGAA
104894433	24310	NM_000161.2(GCH1):c.262C>T (p.Arg88Trp)	GCH1	Apr 28, 1995	MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255	Dystonia 5, Dopa-responsive type	germline	14	54902402	ATCCTGAGCTCGCTGGGCGAGAACCCCCAGCGGCAAGGGCTGCTCAAGACGCCCTGGAGGG
367543005	34105	NM_000048.3(ASL):c.1060C>T (p.Gln354Ter)	ASL	Sep 09, 2016	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004;MedGen:CN517202	Argininosuccinate lyase deficiency;not provided	germline;unknown	7	66089693	CAGGTGGCCACTGGCGTCATCTCTACGCTGCAGGCAAGACATCACCCCCCTGCTTCTCCTC
121908810	68139	NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117592457	GTGATCAGCACTGGCCCCACGCTTCAGGCACGAAGGAGGCAGTCTGTCCTGAACCTGATGA
-1	442441	NM_000166.5(GJB1):c.64C>T (p.Arg22Ter)	GJB1	Mar 22, 2017	MedGen:CN517202	not provided	germline	X	71223771	GGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCA
28939378	19763	NM_019109.4(ALG1):c.773C>T (p.Ser258Leu)	ALG1	Mar 16, 2017	MedGen:C2931005,OMIM:608540,Orphanet:ORPHA79327;MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Congenital disorder of glycosylation type 1K;Inborn genetic diseases;not provided	germline;paternal	16	5078789	CAGAACCTGAGGACCCAGTCACGGAGCGGTCGGCCTTCACGGAGCGGGATGCTGGGAGCGG
193302876	28762	NM_001083116.2(PRF1):c.1246C>T (p.Gln416Ter)	PRF1	May 01, 2003	MedGen:C1863727,OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	germline	10	70598475	GACTGCTGCCCTCGGCAGAGGGGCCTGGCCCAGCTGGAGGTGACCTTCATCCAAGCATGGG
387906704	38894	NM_003688.3(CASK):c.316C>T (p.Arg106Ter)	CASK	Sep 12, 2017	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937;MedGen:CN517202	Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided	germline	X	41745564	GGAGCAGATCTGTGTTTTGAAATCGTAAAGCGAGCTGACGCTGGTTTTGTGTACAGTGAAG
137962226	426484	NM_018684.3(ZC4H2):c.592C>T (p.Arg198Trp)	ZC4H2	Jun 08, 2017	MedGen:CN517202	not provided	germline	X	64917866	GCCTGCTTGTCATGTCACCAGCAAATTCACCGGAATGCACCTATATGCCCTCTTTGCAAGG
80356694	32576	NM_000083.2(CLCN1):c.1439C>T (p.Pro480Leu)	CLCN1	Apr 12, 2011	MedGen:C2936781,OMIM:160800,SNOMED CT:57938005;MedGen:C0027127,Orphanet:ORPHA206973	Congenital myotonia, autosomal dominant form;Myotonia congenita	germline	7	143339290	TGTCCATCGTGGCCACCACTATGCCCATACCCTGCGGAGGCTTCATGCCTGTGTTTGTGCT
387906784	39092	NM_001142784.2(IL11RA):c.886C>T (p.Arg296Trp)	IL11RA	Jul 15, 2011	MedGen:C3280073,OMIM:614188,Orphanet:ORPHA284149	Craniosynostosis and dental anomalies	germline	9	34659834	GGGCTGCCCCATGCTGTACGAGTCAGTGCCCGGGACTTTCTAGATGCTGGCACCTGGAGCA
876657624	214845	NM_005709.3(USH1C):c.7C>T (p.Arg3Ter)	USH1C	Apr 01, 2015	MedGen:C1848604,OMIM:276904	Usher syndrome, type 1C	inherited	11	17544301	GACGCAGCTGGACCTGGCCCAGCCATGGACCGAAAAGTGGCCCGAGAATTCCGGCATAAGG
122453113	26735	NM_005629.3(SLC6A8):c.1540C>T (p.Arg514Ter)	SLC6A8	Jun 01, 2001	MedGen:C1845862,OMIM:300352,Orphanet:ORPHA52503	Creatine deficiency, X-linked	germline	X	153694577	ATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGT
-1	455881	NM_000426.3(LAMA2):c.1300C>T (p.Arg434Ter)	LAMA2	Aug 30, 2016	MedGen:CN117977	Laminin alpha 2-related dystrophy	germline	6	129165669	GAAGTCTGTGTCAAGGATGAGAAACATGCTCGACGAGGTGAGAGCTGCAGCAGAATGTCAC
5030818	17256	NM_000551.3(VHL):c.481C>T (p.Arg161Ter)	VHL	Aug 30, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1;Von Hippel-Lindau syndrome;not provided	germline;somatic;unknown	3	10149804	TTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCA
377626365	481280	NM_177452.3(TRAPPC6B):c.124C>T (p.Arg42Ter)	TRAPPC6B	Feb 02, 2018	MedGen:CN787271,OMIM:617862	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY	germline	14	39159508	TGTATTACTAAGCTGGAAAACATGGGGTTTCGAGTGGGACAAGGATTGATAGAAAGGTGAG
281865109	39632	NM_024747.5(HPS6):c.815C>T (p.Thr272Ile)	HPS6	Dec 01, 2009	MedGen:C3888007,OMIM:614075	Hermansky-Pudlak syndrome 6	germline	10	102066289	TGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTT
-1	433063	NM_000118.3(ENG):c.511C>T (p.Arg171Ter)	ENG	May 11, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN169374	Osler hemorrhagic telangiectasia syndrome;not specified	germline	9	127826522	GAGCTGAATGACCCCCAGAGCATCCTCCTCCGACTGGGCCAAGGTCAGTTTCCCCAGCAAC
74315310	29865	NM_000566.3(FCGR1A):c.274C>T (p.Arg92Ter)	FCGR1A	Mar 15, 1995	MedGen:C4016211	IGG receptor I, phagocytic, familial deficiency of	germline	1	149784224	GAATACAGGTGCCAGAGAGGTCTCTCAGGGCGAAGTGACCCCATACAGCTGGAAATCCACA
121918623	27922	NM_006920.4(SCN1A):c.2591C>T (p.Thr864Met)	SCN1A	Apr 01, 2000	MedGen:C1858672,OMIM:604233;MedGen:C1858673,OMIM:604403	Generalized epilepsy with febrile seizures plus, type 1;Generalized epilepsy with febrile seizures plus, type 2	germline	2	166038098	GAGTTTTCAAGTTGGCAAAATCTTGGCCAACGTTAAATATGCTAATAAAGATCATCGGCAA
587777481	143175	NM_001424.5(EMP2):c.184C>T (p.Gln62Ter)	EMP2	Jun 05, 2014	MedGen:C4014507,OMIM:615861,Orphanet:ORPHA69061	Nephrotic syndrome, type 10	germline	16	10538060	TGCCCTTTTCCCGCAGAGTACTCCACGCTGCAGGCGGTCCAGGCCACCATGATCCTCTCCA
-1	484638	NM_024675.3(PALB2):c.3067C>T (p.Gln1023Ter)	PALB2	Sep 26, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23621408	ATACTAACTTTTGCTGAGGTCCAAGGGATGCAAGAAGCTCTGCTTGGTACTACTATTATGA
137852737	15369	NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter)	RETREG1	Nov 23, 2010	MedGen:C2752089,OMIM:201300;MedGen:C2751092,OMIM:613115	Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type IIB	germline	5	16565788	CACATTTTGCTTCTCCCTGTTGCAGGTGCACAGTTGTGGAGAAGCCTCAGTGAAAGGTAGG
886039259	259350	NM_001242896.1(DEPDC5):c.1114C>T (p.Gln372Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31804194	ATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGG
61753219	214063	NM_000287.3(PEX6):c.821C>T (p.Pro274Leu)	PEX6	Oct 01, 2015	MedGen:C4225267,OMIM:616617	Heimler syndrome 2	germline	6	42978330	AGCCCCTCGCTGACGGACTGGCGCTTGTCCCTGCCACTTTGGCTTTTAATCTTGGCTGTGA
886042019	264982	NM_013275.5(ANKRD11):c.7234C>T (p.Gln2412Ter)	ANKRD11	Jul 11, 2017	MedGen:CN517202	not provided	germline	16	89279308	ACGTCCACGCAGCAGACGCGGGAGGTGATCCAGCAGACGCTGGCCGCCATCGTGGACGCCA
267607508	188160	NM_002055.4(GFAP):c.1193C>T (p.Ser398Phe)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44908128	CATCTGCAGAAACCAGCCTGGACACCAAGTCTGTGTCAGAAGGCCACCTCAAGAGGAACAT
781784543	186807	NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter)	SLC37A4	Jul 28, 2016	MedGen:C0268146,OMIM:232220,SNOMED CT:30102006;MedGen:CN517202	Glucose-6-phosphate transport defect;not provided	germline;unknown	11	119026979	GGAGTAAAGACCTGCTGTACTGACTGGGGCCAGTTCTTCCTTATCCAGGAGAAAGGACAGT
201889294	76993	NM_012160.4(FBXL4):c.1303C>T (p.Arg435Ter)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98899282	TTATGCAGCCTTAAACGACTTGTTCTCTATCGAACAAAAGTAGAGGTGAGAGTAATTCATA
397514540	48182	NM_000146.3(FTL):c.89C>T (p.Thr30Ile)	FTL	Feb 01, 2013	MedGen:C1833213,OMIM:600886,Orphanet:ORPHA163	Hyperferritinemia cataract syndrome	germline	19	48965596	TGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGC
281860601	30074	NM_000559.2(HBG1):c.-167C>T	HBG1	Mar 01, 1991	MedGen:C1841621,OMIM:141749	Fetal hemoglobin quantitative trait locus 1	germline	11	5249971	CACCCATGGGTTGGCCAGCCTTGCCTTGACCAATAGCCTTGACAAGGCAAACTTGACCAAT
80356904	68978	NM_007294.3(BRCA1):c.1621C>T (p.Gln541Ter)	BRCA1	Apr 17, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	germline	17	43093910	ATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATA
773009397	245137	NM_181882.2(PRX):c.1174C>T (p.Arg392Ter)	PRX	Aug 25, 2015	MedGen:CN517202	not provided	germline	19	40397178	CCTGAGGCCAGGGTGAAAGGTCCCAGACTTCGAATGCCCACCTTTGGGCTTTCCCTCTTGG
397515522	76497	NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	TTPA	Jun 27, 2013	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96	Ataxia with vitamin E deficiency	not provided	8	63085847	GACTCCTTCCTGCTGCGGTTCCTGCGCGCCCGGGATTTCGATCTGGACCTGGCCTGGCGGG
766034355	199928	NM_145207.2(SPATA5):c.1343C>T (p.Ser448Leu)	SPATA5	Sep 03, 2015	MedGen:C4225276,OMIM:616577,Orphanet:ORPHA457351	Epilepsy, hearing loss, and mental retardation syndrome	germline	4	122938134	CATTTTACTTGTTTGTTTTTAGACACCCATCAATTATTTTTATTGATGAGCTGGATGCACT
121912709	33037	NM_001182.4(ALDH7A1):c.596C>T (p.Ala199Val)	ALDH7A1	Mar 01, 2006	MedGen:C1849508,OMIM:266100	Pyridoxine-dependent epilepsy	germline	5	126577133	GAATCATCACGGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACGCCATCGCCAT
756998699	200052	NM_000387.5(SLC25A20):c.10C>T (p.Gln4Ter)	SLC25A20	Feb 28, 2017	MedGen:CN517202	not provided	germline	3	48898785	GGAGTGACAGACGGACTGACCATGGCCGACCAGCCAAAACCCATCAGCCCGCTCAAGAACC
-1	430983	NM_020920.3(CHD8):c.2887C>T (p.Arg963Ter)	CHD8	Sep 14, 2016	MedGen:C3554373,OMIM:615032	Autism, susceptibility to, 18	de novo	14	21402494	TTCGTTTTTATTTTAAACCAGGCCCAGGCACGATGTCATCGAATTGGGCAGAGCAAAGCTG
121918313	21306	NM_002336.2(LRP6):c.1831C>T (p.Arg611Cys)	LRP6	Mar 02, 2007	MedGen:C1970440,OMIM:610947	Coronary artery disease, autosomal dominant 2	germline	12	12164494	CATCTCTGCCTCTATAGACCTCAGGGCCTTCGCTGTGCTTGCCCTATTGGCTTTGAACTCA
387907094	40031	NM_017775.3(TTC19):c.517C>T (p.Gln173Ter)	TTC19	Mar 01, 2011	MedGen:C3554605,OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	germline	17	16003885	ATGAGTTACCTCCTTGGAGGGGGCATGAAGCAGGTAAGGACATTGCCTAGTATTGGCCCCT
80338931	34548	NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter)	SH3TC2	Feb 26, 2016	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949;MedGen:CN043578	Charcot-Marie-Tooth disease, type 4C;Charcot-Marie-Tooth disease, type IV	germline	5	149027022	CCAGCCAGAAACTATCTCCTGCAGGCTGTACGACTCTATTGTGAACTTCAGGCCAGTAAGG
1064796738	408021	NM_004523.3(KIF11):c.247C>T (p.Arg83Ter)	KIF11	May 25, 2017	MedGen:CN517202	not provided	germline	10	92606655	GGAGCATCTACTAAACAGATTGATGTTTACCGAAGTGTTGTTTGTCCAATTCTGGATGAAG
751502842	199277	NM_001256850.1(TTN):c.45160C>T (p.Arg15054Ter)	TTN	May 20, 2017	MedGen:C1858763,OMIM:604145;MedGen:CN517202	Dilated cardiomyopathy 1G;not provided	germline	2	178612442	AACTACATTGTGGAAAAGAGAGACGTCAGGCGAAAAGGCTGGCAAACAGTGGATACCACTG
61751367	153459	NM_004992.3(MECP2):c.889C>T (p.Gln297Ter)	MECP2	Sep 05, 2002	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	de novo	X	154030939	GCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCA
111033690	18657	NM_000155.3(GALT):c.404C>T (p.Ser135Leu)	GALT	May 18, 2017	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN517202;MedGen:CN169374	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not provided;not specified	germline;unknown	9	34647858	CCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCC
121917749	27915	NM_001040142.1(SCN2A):c.3988C>T (p.Leu1330Phe)	SCN2A	Sep 14, 2002	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927	Benign familial neonatal-infantile seizures	germline	2	165374700	CTCATCCTGTGCCAGGTTGTTGTAAATGCTCTTTTAGGAGCCATTCCATCTATCATGAATG
387906697	38873	NM_004612.3(TGFBR1):c.1240C>T (p.Arg414Ter)	TGFBR1	Sep 20, 2016	MedGen:C0546476,OMIM:132800,Orphanet:ORPHA65748;MedGen:CN118826,Orphanet:ORPHA91387	Multiple self healing squamous epithelioma;Thoracic aortic aneurysm and aortic dissection	germline	9	99146594	ATGGGCTTAGTATTCTGGGAAATTGCTCGACGATGTTCCATTGGTGGTAAATTGCTCTCCT
587784013	168483	NM_133433.3(NIPBL):c.6565C>T (p.Gln2189Ter)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37046175	TATTTTACAAAACACTCAGATGAAGAAGTACAAACAAAAGCTATCATTGGTCTAGGTAAGT
878853170	237539	NM_024422.4(DSC2):c.1660C>T (p.Gln554Ter)	DSC2	May 22, 2017	na;MedGen:CN517202	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA;not provided	germline	18	31079850	ATATATAATATTACAGTCCTTGCATCAGACCAAGGTAAGAATTTGTCTTTAAGCCAGCTAC
879254419	245394	NM_000527.4(LDLR):c.157C>T (p.Gln53Ter)	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11100312	AAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGT
62625308	32710	NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter)	BRCA1	Jul 14, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline;unknown	17	43091924	TTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAG
879255035	246352	NM_000527.4(LDLR):c.1823C>T (p.Pro608Leu)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116976	TCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCT
281865223	105590	NM_004183.3(BEST1):c.272C>T (p.Thr91Ile)	BEST1	May 22, 2015	MedGen:CN517202	not provided	germline	11	61955742	GCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCC
121434530	33202	NM_000262.2(NAGA):c.985C>T (p.Arg329Trp)	NAGA	Aug 01, 1994	MedGen:C1836522,OMIM:609242,Orphanet:ORPHA79280	Kanzaki disease	germline	22	42061040	CAGGAAAAATCTCTCATCGAAGTGTACATGCGGCCTCTGTCCAACAAGGCTAGCGCCTTAG
1057519277	361769	NM_033068.2(ACP4):c.226C>T (p.Arg76Cys)	ACP4	Jan 18, 2017	MedGen:C4310630,OMIM:617297	Amelogenesis imperfecta, type IJ	germline	19	50790783	CTGAGGCTGTTCTGTCCCCAGGAGGGGGTCCGCCAGCAGCTGGAGCTGGGCCGCTTCCTGA
138996609	181608	NM_003000.2(SDHB):c.688C>T (p.Arg230Cys)	SDHB	Oct 05, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;not provided	germline	1	17022685	ATTGACTCCAGAGATGACTTCACAGAGGAGCGCCTGGCCAAGCTGCAGGACCCATTCTCTC
1064793346	407437	NM_017780.3(CHD7):c.7879C>T (p.Arg2627Ter)	CHD7	Feb 09, 2017	MedGen:CN517202	not provided	germline	8	60862244	TTTTCCTCATTTCAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGG
727504246	172499	NM_001001430.2(TNNT2):c.536C>T (p.Ser179Phe)	TNNT2	Jul 22, 2016	MedGen:C1861864,OMIM:115195;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy	germline	1	201363330	AGGATGAGGCCCGGAAGAAGAAGGCTTTGTCCAACATGATGCATTTTGGGGGTTACATCCA
761399728	248477	NM_006578.3(GNB5):c.242C>T (p.Ser81Leu)	GNB5	Apr 12, 2017	Human Phenotype Ontology:HP:0007018,MedGen:C1263846,OMIM:143465,SNOMED CT:406506008;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C4310678,OMIM:617182;MedGen:CN517202	Attention deficit hyperactivity disorder;Delayed speech and language development;Global developmental delay;Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia;not provided	germline	15	52153947	GGTGCAAAGATAAGAGGAGGATCGTGAGCTCGTCACAGGTATGTCACACCTGCTGCATAAC
794728849	196998	NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter)	SCN5A	Jul 27, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38613782	CTGGGCAATGTCTCAGCCTTACGCACCTTCCGAGTCCTCCGGGCCCTGAAAACTATATCAG
121909287	23290	NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp)	ACVRL1	Apr 23, 2017	MedGen:C1838163,OMIM:600376;MedGen:C1832529;MedGen:CN517202	Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not provided	germline	12	51916218	TTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCT
180177124	132190	NM_024675.3(PALB2):c.2761C>T (p.Gln921Ter)	PALB2	Jul 16, 2012	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	16	23624082	CTGCTTTGTTTTATTTAGGTTCCAGTATTACAGATAGTTCCAGTGCCTGATGTGTATAATC
-1	438519	NM_005720.3(ARPC1B):c.314C>T (p.Ala105Val)	ARPC1B	Oct 26, 2017	MedGen:CN570504,OMIM:617718	PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE	germline	7	99388183	TCAACCGGGCTGCCCGCTGCGTGCGCTGGGCCCCCAACGAGAACAAGTTTGCTGTGGGCAG
202218890	268491	NM_001130987.1(DYSF):c.2929C>T (p.Arg977Trp)	DYSF	Nov 10, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71569884	TTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGA
113812345	51455	NM_000138.4(FBN1):c.1546C>T (p.Arg516Ter)	FBN1	Aug 11, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202;MedGen:CN169374	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	germline	15	48513591	AACAACCAGGGTTCGTACACCTGTCAGTGCCGAGCTGGATATCAGAGCACACTCACGCGGA
922930539	420015	NM_004928.2(C21orf2):c.347C>T (p.Pro116Leu)	C21orf2	Jun 23, 2017	MedGen:C1865695,OMIM:602271,Orphanet:ORPHA168549	Spondylometaphyseal dysplasia axial	germline	21	44333059	GCTACCGCATGACCGTGCTGCGCACCCTGCCGCGCCTACAGAAGCTGGACAACCAGGGTAG
267606754	19497	NM_004937.2(CTNS):c.416C>T (p.Ser139Phe)	CTNS	Oct 06, 2016	MedGen:CN035091,Orphanet:ORPHA213,SNOMED CT:190681003;MedGen:C2749685;MedGen:C0268626,OMIM:219900,Orphanet:ORPHA411634,SNOMED CT:22830006;MedGen:C0010690,OMIM:219800	Cystinosis;Cystinosis, atypical nephropathic;Juvenile nephropathic cystinosis;Nephropathic cystinosis	germline;unknown	17	3655307	TGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAA
761494650	185659	NM_007194.3(CHEK2):c.85C>T (p.Gln29Ter)	CHEK2	May 27, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	22	28734637	TCACAGCCCCATGGCAGCGTTACCCAGTCCCAAGGCTCCTCCTCACAGTCCCAGGGCATAT
769426298	264464	NM_001130103.1(COL13A1):c.271C>T (p.Arg91Ter)	COL13A1	Jun 28, 2016	MedGen:CN517202	not provided	germline	10	69802694	GAGCAGCAAATGGAGACGGCTATTTTGGGACGAGTCAATCAACTGCTGGACGAGGTCTGTG
786203898	242858	NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter)	BRIP1	Apr 03, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C1836860,OMIM:609054;MedGen:C0027672,SNOMED CT:699346009	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	germline	17	61715964	TATGAAATTCAAGCATACAGGGCCTTAAACCAGGCCCTTGGTAGGTAAGTGGAGTGAAATT
869312841	226613	NM_006734.3(HIVEP2):c.2827C>T (p.Arg943Ter)	HIVEP2	Jun 28, 2017	MedGen:C4310771,OMIM:616977	Mental retardation, autosomal dominant 43	germline	6	142771912	GAGAAGTTGCCACCCAAAAAGAAGCGTCTGCGACTTGCAGATATGGAGCACTCCTCAGGGG
-1	441961	NM_002087.3(GRN):c.1072C>T (p.Gln358Ter)	GRN	Jun 05, 2017	MedGen:CN517202	not provided	germline	17	44351688	GCCCCAGCTCACCTCAGCCTGCCAGACCCACAAGCCTTGAAGAGAGATGTCCCCTGTGATA
121918295	17751	NM_178443.2(FERMT3):c.1537C>T (p.Arg513Ter)	FERMT3	May 07, 2009	MedGen:C2748536,OMIM:612840,Orphanet:ORPHA99844	Leukocyte adhesion deficiency, type III	germline	11	64220649	CCCTACGGCCTCGTTGCCCCCCGTTTCCAGCGAAAGTTCAAGGCCAAGCAGGTACCAGAAG
746541266	237674	NM_000350.2(ABCA4):c.3871C>T (p.Gln1291Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline	1	94032035	TTAATTCAATCTCTCAAAACAGGTGGCGCTCAGCAGAAAAGAGAAAACGTCAACCCCCGAC
113994027	19159	NM_001034116.1(EIF2B4):c.683C>T (p.Ala228Val)	EIF2B4	Feb 01, 2002	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	2	27368047	TGGTCAGTGGCTCCAATGCCCGGTGTATTGCCCTGCTTCGTGCCTTGCAGCAGGTATGTCC
121907963	18944	NM_000520.5(HEXA):c.1177C>T (p.Arg393Ter)	HEXA	Oct 20, 2017	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Tay-Sachs disease;not provided	germline	15	72346680	ATTCAGCCAGACACAATCATACAGGTGTGGCGAGAGGATATTCCAGTGAACTATATGAAGG
886043023	269372	NM_000266.3(NDP):c.325C>T (p.Arg109Ter)	NDP	Dec 04, 2015	MedGen:C0266526,OMIM:310600,SNOMED CT:15228007	Atrophia bulborum hereditaria	germline	X	43949876	CAGACTTCCAAGCTGAAGGCACTGCGGCTGCGATGCTCAGGGGGCATGCGACTCACTGCCA
397514473	39427	NM_021625.4(TRPV4):c.266C>T (p.Thr89Ile)	TRPV4	Apr 02, 2014	MedGen:C0265281,OMIM:156530,Orphanet:ORPHA2635,SNOMED CT:22764001;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Metatrophic dysplasia;Skeletal dysplasia	germline	12	109814531	TGCCCAACCCCATCGATCTGCTGGAGTCCACCCTATATGAGTCCTCGGTGGTGCCTGGGCC
1060501936	394765	NM_005732.3(RAD50):c.2467C>T (p.Arg823Ter)	RAD50	Oct 24, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132603989	GCAGCTAAGCTACAAGGAATAGACTTAGATCGAACTGTCCAACAAGTCAACCAGGAGAAAC
587784134	168207	NM_022455.4(NSD1):c.4987C>T (p.Arg1663Cys)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177260009	CCTGCTTTAGGTCGGTTGATGCGCTGTGTCCGCTGTCCTGTGGCATACCACGCCAATGACT
281875284	39467	NM_004738.4(VAPB):c.137C>T (p.Thr46Ile)	VAPB	Dec 17, 2010	MedGen:C1837728,OMIM:608627;MedGen:CN517202	Amyotrophic lateral sclerosis type 8;not provided	germline	20	58418289	CAGACCGAAATGTGTGTTTTAAGGTGAAGACTACAGCACCACGTAGGTACTGTGTGAGGCC
387907197	40564	NM_001399.4(EDA):c.826C>T (p.Arg276Cys)	EDA	Dec 01, 2009	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005	Hypohidrotic X-linked ectodermal dysplasia	germline	X	70033430	CTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGC
35578002	47287	NM_000518.4(HBB):c.90C>T (p.Gly30=)	HBB	Dec 07, 2016	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000	beta Thalassemia	germline	11	5226932	CGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTTT
587784098	168158	NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177211613	GTGACTCTTGATGCTGTACTGCAGGGAGACCGAGAACGTGGAGGTTCATTGAGAGGTGGGG
28928910	29068	NM_006158.4(NEFL):c.64C>T (p.Pro22Ser)	NEFL	Dec 18, 2014	MedGen:C1843225,OMIM:607684,Orphanet:ORPHA99939;MedGen:C0270913,OMIM:601098,Orphanet:ORPHA101083,SNOMED CT:4183003;Human Phenotype Ontology:HP:0000762,MedGen:C1857640;Human Phenotype Ontology:HP:0009053,MedGen:C1836450;Human Phenotype Ontology:HP:0002460,MedGen:C1864696;Human Phenotype Ontology:HP:0009130,MedGen:C0239830;Human Phenotype Ontology:HP:0011096,MedGen:C0878575;Human Phenotype Ontology:HP:0009830,MedGen:C0442874;Human Phenotype Ontology:HP:0009830,MedGen:C0442874;Human Phenotype Ontology:HP:0001761,MedGen:C0728829;MedGen:CN517202	Charcot-Marie-Tooth disease type 2E;Charcot-Marie-Tooth disease, type 1C;Decreased nerve conduction velocity;Distal lower limb muscle weakness;Distal muscle weakness;Hand muscle atrophy;Peripheral demyelination;Peripheral neuropathy;Peripheral neuropathy;Pes cavus;not provided	germline;unknown	8	24956452	ACCTCCTACAAGCGGCGCTACGTGGAGACGCCCCGGGTGCACATCTCCAGCGTGCGCAGCG
-1	439618	NM_014991.4(WDFY3):c.7909C>T (p.Arg2637Trp)	WDFY3	Jun 12, 2017	MedGen:CN251651,OMIM:617520	Microcephaly 18, primary, autosomal dominant	germline	4	84715350	ATTGCTGTGGAAGTTTTCTCTGGAGATGGACGGAATTACCTCCTTGCTTTTCAGAAAGGAA
374402066	17280	NM_000433.3(NCF2):c.304C>T (p.Arg102Ter)	NCF2	Oct 01, 1999	MedGen:C1856245,OMIM:233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	germline	1	183577661	AAAGACCTTAAAGAAGCCTTGATTCAGCTTCGAGGGAACCAGCTGATAGACTATAAGATCC
587776973	59810	NM_001242896.1(DEPDC5):c.1663C>T (p.Arg555Ter)	DEPDC5	Mar 16, 2017	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31815209	GTCAGCAGCTCCTTGGGATACACCAGCACTCGAGGTAAGAGTGCTGAAGCACAGACAGAGC
104894068	16217	NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met)	CYP11B1	Oct 01, 1997	MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007	Deficiency of steroid 11-beta-monooxygenase	germline	8	142875877	GTCTGACCCTGCAGCTGTGTCTCCTGCAGACGGTGTTTCCCTTGCTGATGACGCTCTTTGA
886044351	274356	NM_015384.4(NIPBL):c.6082C>T (p.Gln2028Ter)	NIPBL	Sep 01, 2016	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37038712	CAGCTCATGGTTAAACATGCAATGACTATGCAACCATACCTTACCACTAAATGTAGTGTAA
137854532	30971	NM_000516.5(GNAS):c.493C>T (p.Arg165Cys)	GNAS	Jan 25, 2017	Human Phenotype Ontology:HP:0000852,MedGen:C0033806,OMIM:103580,Orphanet:ORPHA97593	Pseudohypoparathyroidism type 1A	germline	20	58905443	GAGGATGAAGGAGTGCGTGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGACTGTG
121918204	16115	NM_015272.4(RPGRIP1L):c.2050C>T (p.Gln684Ter)	RPGRIP1L	Feb 23, 2015	MedGen:C1969053,OMIM:611560	Joubert syndrome 7	germline;unknown	16	53652637	CAGAAGAATACTATCACCCTTGAGGTCCACCAGGCTTATAGCACAGAATATGAAACAATTG
104894614	21743	NM_005450.4(NOG):c.328C>T (p.Gln110Ter)	NOG	Sep 01, 2002	MedGen:C1866656,OMIM:184460,Orphanet:ORPHA140917	Stapes ankylosis with broad thumb and toes	germline	17	56594551	GACCTGGCGGAGCTGGACCAGCTGCTGCGGCAGCGGCCGTCGGGGGCCATGCCGAGCGAGA
746873768	213808	NM_003494.3(DYSF):c.1834C>T (p.Gln612Ter)	DYSF	May 02, 2017	MedGen:C2931687,Orphanet:ORPHA207073;MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:CN517202	Dysferlinopathy;Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;not provided	germline	2	71553092	ACCATGCTGCAGGATGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTACGGGA
876658658	231989	NM_001042492.2(NF1):c.31C>T (p.Gln11Ter)	NF1	Mar 02, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	31095340	ATGGCCGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGAGCAGG
886041669	263961	NM_015100.3(POGZ):c.2350C>T (p.Arg784Ter)	POGZ	Mar 30, 2016	MedGen:CN517202	not provided	germline	1	151408125	TCTCTGTGTCGCTATAGCACCTGCTGTTCTCGAGCTTATGCCAACCACATGATCAAGTAAG
199584830	238025	NM_001142564.1(CNGA1):c.1747C>T (p.Arg583Ter)	CNGA1	Jan 01, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinal dystrophy;Retinitis pigmentosa	germline;unknown	4	47936954	GATTATATTTGCAAGAAAGGGGATATCGGACGAGAGATGTACATTATCAAGGAAGGCAAAC
387906320	19822	NM_025237.2(SOST):c.70C>T (p.Gln24Ter)	SOST	Mar 01, 2001	MedGen:CN032489,OMIM:269500	Sclerosteosis 1	germline	17	43758672	GTACACACAGCCTTCCGTGTAGTGGAGGGCCAGGGGTGGCAGGCGTTCAAGAATGATGCCA
1060499802	389243	NM_000260.3(MYO7A):c.6211C>T (p.Gln2071Ter)	MYO7A	Jun 04, 2016	MedGen:C1838701,OMIM:600060	Deafness, autosomal recessive 2	germline	11	77211311	CGGGAGCTGGTGCCCCAGGACCTTATCCGGCAGGTCTCACCTGATGACTGGAAGCGGGTGA
794728540	197507	NM_000218.2(KCNQ1):c.1801C>T (p.Gln601Ter)	KCNQ1	Jun 11, 2012	MedGen:CN517202	not provided	germline	11	2847773	TCTCGTCTGCCTTTGTCCCCGCAGGTGACGCAGCTGGACCAGAGGCTGGCACTCATCACCG
193922569	45121	NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter)	LDLR	Jun 02, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11120224	GAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCAC
-1	445021	NM_003482.3(KMT2D):c.14194C>T (p.Gln4732Ter)	KMT2D	Aug 15, 2017	MedGen:CN517202	not provided	germline	12	49029118	TTCCCTCATCTGGGCTCAGGCCGGTGGGAGCAAGAGGACCGGGCCCTCTCCCCTGTCATCC
137852700	23943	NM_000310.3(PPT1):c.451C>T (p.Arg151Ter)	PPT1	Aug 10, 2017	MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329;MedGen:CN239323;MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007;MedGen:CN517202	Ceroid lipofuscinosis neuronal 1;Neuronal Ceroid-Lipofuscinosis, Recessive;Neuronal ceroid lipofuscinosis;not provided	germline;unknown	1	40089495	TCTACCACTGTAGGTGTTTTTGGACTCCCTCGATGCCCAGGAGAGAGCTCTCACATCTGTG
864309720	215756	NM_001143826.2(MAPRE2):c.298C>T (p.Arg100Cys)	MAPRE2	Dec 03, 2015	MedGen:C4225225,OMIM:616734	Skin creases, congenital symmetric circumferential, 2	germline	18	35101976	GTAATTCCAGTGGAGAAGCTAGTGAAAGGACGTTTCCAGGACAACCTGGATTTTATTCAAT
80357136	69535	NM_007294.3(BRCA1):c.3403C>T (p.Gln1135Ter)	BRCA1	Dec 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43092128	TCTCCATATCTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGG
1057519074	359059	NM_002444.2(MSN):c.511C>T (p.Arg171Trp)	MSN	Dec 15, 2016	MedGen:C4310812,OMIM:300988	Immunodeficiency 50	germline	X	65731150	CACAAACTCAACAAGGACCAGTGGGAGGAGCGGATCCAGGTGTGGCATGAGGAACACCGTG
41293455	32714	NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter)	BRCA1	Aug 18, 2017	MedGen:C2676676,OMIM:604370;MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:C3280442,OMIM:614320;MedGen:CN517202;MedGen:CN169374	Breast-ovarian cancer, familial 1;Breast-ovarian cancer, familial 1;Familial cancer of breast;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Pancreatic cancer 4;not provided;not specified	germline;unknown	17	43082434	ATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAG
181509591	214059	NM_020041.2(SLC2A9):c.374C>T (p.Thr125Met)	SLC2A9	Mar 01, 2012	MedGen:C2677549,OMIM:612076	Renal hypouricemia 2	germline	4	9996817	CCATATTCGCCATCGGTGGACTTGTGGGGACGTTAATTGTGAAGATGATTGGAAAGGTTCT
771742823	424264	NM_153240.4(NPHP3):c.424C>T (p.Arg142Ter)	NPHP3	-	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006	Adolescent nephronophthisis	biparental	3	132719800	GCACTTCAAAAAACGTATCAGAAGATACTTCGAGAAAAAGAAAGTGCTTTAGAAGCGAAAT
121909580	32537	NM_000744.6(CHRNA4):c.839C>T (p.Ser280Phe)	CHRNA4	Sep 11, 2015	MedGen:C1838049,OMIM:600513;MedGen:CN517202	Epilepsy, nocturnal frontal lobe, type 1;not provided	germline	20	63350572	AGTGTGGCGAGAAGATCACGCTGTGCATCTCCGTGCTGCTGTCGCTCACCGTCTTCCTGCT
1057517945	359836	NM_004281.3(BAG3):c.268C>T (p.Arg90Ter)	BAG3	Mar 02, 2017	MedGen:C3151293,OMIM:613881;MedGen:CN517202	Dilated cardiomyopathy 1HH;not provided	germline	10	119669938	AGGGAAGGCCACCCTGTGTACCCCCAGCTCCGACCAGGCTACATTCCCATTCCTGTGCTCC
121909730	31160	NM_005271.4(GLUD1):c.1519C>T (p.His507Tyr)	GLUD1	Feb 12, 2018	MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878	Hyperinsulinism-hyperammonemia syndrome	germline	10	87053380	TAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTT
121434405	21218	NM_000969.4(RPL5):c.67C>T (p.Arg23Ter)	RPL5	Dec 01, 2008	MedGen:C0265265,OMIM:612561,SNOMED CT:71988008	Aase syndrome	germline	1	92833452	TTTAAGAGATACCAAGTGAAATTTAGAAGACGACGAGGTACTGTCACCTTTTTGTGTTTAC
886039666	259949	NM_000051.3(ATM):c.601C>T (p.Gln201Ter)	ATM	Mar 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108244057	ATTCATGCTGTTACCAAAGGATGCTGTTCTCAGACTGACGGATTAAATTCCAAATTTTTGG
373178770	446317	NM_001396.4(DYRK1A):c.187C>T (p.Gln63Ter)	DYRK1A	Oct 02, 2017	MedGen:CN517202	not provided	germline	21	37472860	GTTTCTGCCTTATCATATTCTGACCAGATTCAGCAACCTCTAACTAACCAGGTAAGTTCAT
794726863	190169	NM_006978.2(RNF113A):c.901C>T (p.Gln301Ter)	RNF113A	Apr 01, 2015	MedGen:C4225420,OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	germline	X	119870713	CGCACCACCCCGCGCTGCTATGTCTGTGACCAGCAGACCAATGGCGTCTTCAATCCAGCGA
765429911	481602	NM_000350.2(ABCA4):c.319C>T (p.Arg107Ter)	ABCA4	Jan 16, 2018	MedGen:CN517202	not provided	germline	1	94108700	CTTTGTCCTTACAGCTTGGCAAGGGTATATCGAGATTTTCAAGAACTCCTCATGAATGCAC
61750168	104456	NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp)	GUCY2D	Aug 10, 2017	MedGen:C2931258,OMIM:204000;MedGen:CN517202	Leber congenital amaurosis 1;not provided	germline	17	8013918	CAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTG
118204020	16646	NM_024884.2(L2HGDH):c.905C>T (p.Pro302Leu)	L2HGDH	Nov 15, 2004	Human Phenotype Ontology:HP:0040144,MedGen:C1855995,OMIM:236792,Orphanet:ORPHA79314	L-2-hydroxyglutaric aciduria	germline	14	50269164	AATGTTATCTTGTAAAAGGAAATATTTATCCGGTAGGTAATGATGCTTCCTACTTCTCATT
869312914	226940	NM_015346.3(ZFYVE26):c.7195C>T (p.Gln2399Ter)	ZFYVE26	Jul 15, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	14	67752520	CCATCATGTTGTGTTCTGTTCTAGGACTTCCAGCTGGATGCTGCCATGACCTACTGCAGAG
1131690925	420697	NM_000455.4(STK11):c.367C>T (p.Gln123Ter)	STK11	Nov 30, 2012	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	1218493	CTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATATATCCTTTCCGGTGTTGGGACC
267606709	15787	NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met)	CC2D2A	Feb 23, 2015	MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454;MedGen:C2676788,OMIM:612285	COACH syndrome;Joubert syndrome 9	germline;unknown	4	15567735	CTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGA
28938469	24134	NM_001287174.1(ABCC8):c.4261C>T (p.Arg1421Cys)	ABCC8	Dec 29, 2000	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline	11	17395659	GCCAAACTGCCGCTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTCC
749426946	260249	NM_006031.5(PCNT):c.7819C>T (p.Arg2607Ter)	PCNT	Oct 13, 2015	MedGen:CN517202	not provided	germline	21	46430138	AAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCA
886039036	258925	NM_000138.4(FBN1):c.439C>T (p.Gln147Ter)	FBN1	Jun 11, 2015	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48600142	CAGAAAGGATACATAGGGACTCACTGTGGACAACGTAAGTACACTGTAGTTATAAGTATTC
104894276	15519	NM_000317.2(PTS):c.259C>T (p.Pro87Ser)	PTS	Jan 01, 1998	MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13	6-pyruvoyl-tetrahydropterin synthase deficiency	germline	11	112233178	TGGTTTTGTCTCTAGGAGGCGATTATGCAGCCCCTTGATCATAAGAATCTGGATATGGATG
1057519475	362200	NM_001453.2(FOXC1):c.316C>T (p.Gln106Ter)	FOXC1	Sep 19, 2014	MedGen:C2678503,OMIM:602482	Axenfeld-Rieger syndrome type 3	unknown	6	1610761	GACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACC
63751153	95157	NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter)	MLH1	Jul 05, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary nonpolyposis colon cancer;Lynch syndrome	germline	3	37025823	CCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATA
-1	417119	NM_019098.4(CNGB3):c.926C>T (p.Pro309Leu)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86647865	TTCAACAGTTGGATGTCGCATCAATAATACCATTTGATATTTGCTACCTCTTCTTTGGGTT
794727420	193121	NM_003482.3(KMT2D):c.5677C>T (p.Gln1893Ter)	KMT2D	Dec 29, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49042846	CTGCCCAAGATGGAATCCAAGGACCTGCAGCAGCTCTTCAAGGATGTTCTGGGCTCTGAAC
139430866	39555	NM_024996.5(GFM1):c.748C>T (p.Arg250Trp)	GFM1	Nov 08, 2017	MedGen:C1836797,OMIM:609060,Orphanet:ORPHA137681	Combined oxidative phosphorylation deficiency 1	germline	3	158652154	GCTGAATTAAGGGCGGCGGCCACTGACCACCGGCAGGAGCTAATTGAATGTGTTGCCAATT
80338964	34298	NM_005359.5(SMAD4):c.1162C>T (p.Gln388Ter)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51067041	TTCCTAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGAAGGTGATGTTT
200068769	460162	NM_000274.3(OAT):c.1192C>T (p.Arg398Ter)	OAT	Oct 13, 2016	MedGen:C0018425	Gyrate atrophy	germline	10	124398070	TGGGATGCTTGGAAGGTGTGTCTACGACTTCGAGATAATGGACTTCTGGCCAAGCCAACCC
778806374	421219	NM_000029.3(AGT):c.1087C>T (p.Gln363Ter)	AGT	May 15, 2017	MedGen:CN517202	not provided	germline	1	230705970	CTGGACAAGGTGGAGGGTCTCACTTTCCAGCAAAACTCCCTCAACTGGATGAAGAAACTAT
121918450	28603	NM_000212.2(ITGB3):c.2248C>T (p.Arg750Ter)	ITGB3	Nov 01, 1997	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	47307584	ATCTGGAAACTCCTCATCACCATCCACGACCGAAAAGAATTCGCTAAATTTGAGGAAGAAC
876658932	242453	NM_004360.4(CDH1):c.220C>T (p.Arg74Ter)	CDH1	Jul 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	germline	16	68801726	CAAAGGACAGCCTATTTTTCCCTCGACACCCGATTCAAAGTGGGCACAGATGGTGTGATTA
137852467	25360	NM_000132.3(F8):c.6544C>T (p.Arg2182Cys)	F8	Apr 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154863113	CCAACTCATTATAGCATTCGCAGCACTCTTCGCATGGAGTTGATGGGCTGTGATTTAAATA
199763682	260080	NM_000126.3(ETFA):c.625C>T (p.Arg209Ter)	ETFA	Jun 21, 2016	MedGen:CN517202	not provided	germline	15	76285676	TGGCTTGACCAGAAATTAACAAAAAGTGATCGACCAGAGCTAACAGGTGCCAAAGTGGTGG
1135401800	424677	NM_004187.3(KDM5C):c.2482C>T (p.Arg828Ter)	KDM5C	Jan 06, 2017	MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279	Mental retardation, syndromic, Claes-Jensen type, X-linked	maternal	X	53198524	TGCCTGAGTGAGGCAGAGGCTTGCGTGTCCCGAGCTCTGGGACTGGTCAGCGGCCAGGAAG
104894880	25729	NM_000266.3(NDP):c.181C>T (p.Leu61Phe)	NDP	Jan 01, 1997	MedGen:C0266526,OMIM:310600,SNOMED CT:15228007	Atrophia bulborum hereditaria	germline	X	43950020	AACCACCTCCTTTTCTTTCCCCAGATGGTGCTCCTGGCCAGGTGCGAGGGGCACTGCAGCC
137852800	33417	NM_001039523.2(CHRNA1):c.896C>T (p.Thr299Ile)	CHRNA1	May 01, 1997	MedGen:C0751885,OMIM:601462	Myasthenic syndrome, slow-channel congenital	germline	2	174750127	CTCTGAGCATCTCTGTCTTACTGTCTTTGACTGTGTTCCTTCTGGTCATCGTGGAGCTGAT
45517396	58513	NM_000548.4(TSC2):c.5140C>T (p.Gln1714Ter)	TSC2	Sep 01, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN169374	Tuberous sclerosis syndrome;not specified	germline	16	2088119	TCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGG
878853125	237499	NM_001258221.1(KCTD1):c.58C>T (p.Pro20Ser)	KCTD1	Jan 29, 2014	MedGen:C1867020,OMIM:181270,Orphanet:ORPHA2036	Scalp ear nipple syndrome	unknown	18	26501178	CCTGCATCTCCACTGAACAACCAAGGCATCCCTACTCCAGCACAACTCACAAAATCCAATG
104893680	17081	NM_032146.5(ARL6):c.92C>T (p.Thr31Met)	ARL6	Sep 01, 2004	MedGen:C1859564,OMIM:600151	Bardet-Biedl syndrome 3	germline	3	97768199	TGTGCCTTGGGCTAGATAATAGTGGCAAAACGACGATCATTAACAAACTTAAACCTTCAAA
28941773	18875	NM_000017.3(ACADS):c.1058C>T (p.Ser353Leu)	ACADS	Jan 12, 2017	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007;MedGen:CN517202	Deficiency of butyryl-CoA dehydrogenase;not provided	germline;unknown	12	120739168	AGGAGGCAGCCATGGCCAAGCTGGCCGCCTCGGAGGCCGCGACCGCCATCAGCCACCAGGT
121909684	31235	NM_000821.6(GGCX):c.899C>T (p.Ser300Phe)	GGCX	Mar 01, 2009	MedGen:C1835813,OMIM:610842,Orphanet:ORPHA91135	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	germline	2	85553488	ATTTTCTCCCTGCTTTCCTAGGTATGTTCTCCTACGTCATGCTGGCCAGCAGCCCTCTCTT
137852605	24569	NM_194442.2(LBR):c.356C>T (p.Pro119Leu)	LBR	Nov 01, 2003	MedGen:C0030779,OMIM:169400,SNOMED CT:85559002	Pelger-Huët anomaly	germline	1	225422087	CAAGGAGGGAAGTGGAAGTTAAATTGACTCCGCTGATTCTGGTACTTGTGTTTATCCTTAT
121908225	23543	NM_001127221.1(CACNA1A):c.653C>T (p.Ser218Leu)	CACNA1A	May 12, 2016	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006;MedGen:C1832894,OMIM:141500	Episodic ataxia type 2;Familial hemiplegic migraine type 1	germline	19	13365448	TCCCCCCAGGTTTACAAGTCGTCCTGAAGTCGATCATGAAGGCGATGATCCCTTTGCTGCA
128626235	26264	NM_004006.2(DMD):c.433C>T (p.Arg145Ter)	DMD	Feb 16, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;not provided	germline	X	32816565	AACAGTGAAAAGATTCTCCTGAGCTGGGTCCGACAATCAACTCGTAATTATCCACAGGTTA
753776168	445165	NM_007129.4(ZIC2):c.637C>T (p.Gln213Ter)	ZIC2	Jun 21, 2017	MedGen:CN517202	not provided	germline	13	99982701	GACCCCTACTCGGCGGCGCAACTCCACAACCAGTACGGCCCCATGAATATGAACATGGGTA
63751457	30726	NM_000517.4(HBA2):c.69C>T (p.Gly23=)	HBA2	Aug 01, 2004	MedGen:C1456873	Alpha plus thalassemia	germline	16	172981	CGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGA
376882637	424574	NM_004237.3(TRIP13):c.1060C>T (p.Arg354Ter)	TRIP13	Jul 27, 2017	MedGen:CN351188,OMIM:617598	Mosaic variegated aneuploidy syndrome 3	germline	5	914504	ATATACCCTCGCCAGCAGCTGCTGACCCTCCGAGAGCTAGAGATGATTGGCTTCATTGAAA
886039430	259708	NM_001165963.1(SCN1A):c.1702C>T (p.Arg568Ter)	SCN1A	Oct 21, 2016	MedGen:CN517202	not provided	germline	2	166044010	AGCATCCGTGGCTCCCTATTTTCACCAAGGCGAAATAGCAGAACAAGCCTTTTCAGCTTTA
387907337	51097	NM_001885.2(CRYAB):c.58C>T (p.Pro20Ser)	CRYAB	Apr 18, 2013	MedGen:C3151065,OMIM:613763	Cataract 16, multiple types	germline	11	111911667	ATCCGCCGCCCCTTCTTTCCTTTCCACTCCCCCAGCCGCCTCTTTGACCAGTTCTTCGGAG
119473031	19307	NM_024101.6(MLPH):c.103C>T (p.Arg35Trp)	MLPH	Aug 01, 2003	MedGen:C1836573,OMIM:609227,Orphanet:ORPHA79478	Griscelli syndrome type 3	germline	2	237493529	GATTTTGACCTCCGAAGGAAAGAAGAGGAACGGCTAGAGTGAGTGTGCCGTGCTGAGCCCA
121912884	32422	NM_001844.4(COL2A1):c.1693C>T (p.Arg565Cys)	COL2A1	Jul 19, 2016	MedGen:C2020284,OMIM:108300;MedGen:CN517202	Stickler syndrome type 1;not provided	germline	12	47985575	TCTCTCTCCTGAACAAAGGGTCTCACTGGCCGCCCTGGTGATGCTGGTCCTCAAGGCAAAG
202229910	214349	NM_198525.2(KIF7):c.2917C>T (p.Arg973Ter)	KIF7	Feb 23, 2015	Gene:46,MedGen:C0796147,OMIM:200990,Orphanet:ORPHA36	Acrocallosal syndrome, Schinzel type	unknown	15	89631689	TGCCCCCAGGCCCTCAACGAGGACATCGTGCGAGTGTCCAGCCGGCTGGAGCACCTGGAGA
-1	471431	NM_003159.2(CDKL5):c.1519C>T (p.Gln507Ter)	CDKL5	Feb 23, 2017	MedGen:CN128785;MedGen:C1839333,OMIM:300672	Angelman syndrome-like;Early infantile epileptic encephalopathy 2	germline	X	18604443	TCTGTGAGCAACCTTTCTGAAGCCAGGGCCCAAATTGCGGAGCCCAGTACCAGTAGGTACT
180177157	186651	NM_000030.2(AGXT):c.106C>T (p.Arg36Cys)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240868971	CTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGA
120074180	18158	NM_000218.2(KCNQ1):c.817C>T (p.Leu273Phe)	KCNQ1	Oct 13, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 1;not provided	germline	11	2572882	ATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCTGG
104894592	16601	NM_000263.3(NAGLU):c.889C>T (p.Arg297Ter)	NAGLU	May 31, 2017	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008;MedGen:C0026706,SNOMED CT:88393000;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-B;Sanfilippo syndrome;not provided	germline	17	42541074	ATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATCAAAGAGTTTGGCACAGACC
118192177	28016	NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met)	RYR1	May 04, 2017	MedGen:CN228299;MedGen:CN031421,OMIM:145600;Human Phenotype Ontology:HP:0000508,MedGen:C0005745;MedGen:C0344490;MedGen:CN517202	History of neonatal hypotonia;Malignant hyperthermia, susceptibility to, 1;Ptosis;Sacral agenesis;not provided	germline;unknown	19	38496283	ACCTGATGAGGGCGCTGGGCATGCACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGG
587784188	168262	NM_022455.4(NSD1):c.6310C>T (p.Gln2104Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177292005	GAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCA
587777207	107271	NM_001013703.3(EIF2AK4):c.3766C>T (p.Arg1256Ter)	EIF2AK4	Feb 01, 2014	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	40016508	TGACTGTGCCCCTTTGCTTTCCAGCTGTGTCGACTCTACAAGTTTATTGAACAGAAGGGAG
80359140	67362	NM_000059.3(BRCA2):c.8878C>T (p.Gln2960Ter)	BRCA2	Jul 10, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	13	32379440	AAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTCACAACCGTGT
886039552	260265	NM_003560.3(PLA2G6):c.208C>T (p.Arg70Ter)	PLA2G6	May 08, 2017	MedGen:CN517202	not provided	germline	22	38169219	GTCAACCCCAGGAACTCACAGAGTGGATTCCGGTGGGTGATGCTCAGCGGGAACATACTTC
142967670	187035	NM_000159.3(GCDH):c.262C>T (p.Arg88Cys)	GCDH	Aug 21, 2017	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric aciduria, type 1;not provided	germline;unknown	19	12891965	AGACTCATGCCTCGCATCCTGTTGGCCAATCGCAACGAAGGTGGGCGGGCTGGTGGGTGCC
121908424	20378	NM_153717.2(EVC):c.2635C>T (p.Gln879Ter)	EVC	Mar 01, 2000	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	germline	4	5808274	CACCAGCAGATGCGTCTGCACGCCCAGCAGCAGCAGGCAGGAGTCATGGACCTTCTGGAAG
886043221	270055	NM_000023.3(SGCA):c.403C>T (p.Gln135Ter)	SGCA	Jan 25, 2016	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline	17	50168391	CTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATG
-1	445359	NM_000138.4(FBN1):c.3253C>T (p.Gln1085Ter)	FBN1	Oct 10, 2017	MedGen:CN517202	not provided	germline	15	48488197	CGCATATCTCCTGACCTCTGTGGCAGAGGCCAGTGTGTGAACACCCCTGGGGACTTTGAAT
372989281	152845	NM_004183.3(BEST1):c.763C>T (p.Arg255Trp)	BEST1	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	11	61958194	TACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACC
587781994	151480	NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter)	ATM	Oct 19, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	11	108333909	AATACAGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTTAGAAG
672601340	167415	NM_006624.5(ZMYND11):c.976C>T (p.Gln326Ter)	ZMYND11	Oct 01, 2014	MedGen:C4015167,OMIM:616083	Mental retardation, autosomal dominant 30	germline	10	246791	CCTAGGGCCTGGATTCCTTCTGAAAACATTCAAGATATCACAGTCAACATTCATCGGCTGC
121908327	19787	NM_007267.7(TMC6):c.280C>T (p.Arg94Ter)	TMC6	Dec 01, 2002	MedGen:C0014522,OMIM:226400,Orphanet:ORPHA302,SNOMED CT:19138001	EPIDERMODYSPLASIA VERRUCIFORMIS	germline	17	78125876	CCCTGCCCAGCTGCCTCCATAGGCCGCAGCCGAGGTGCCATCATCTCCCAGTACTACAACC
137854535	30980	NM_000516.5(GNAS):c.772C>T (p.Arg258Trp)	GNAS	Jan 06, 2017	MedGen:C0033835,OMIM:612463,Orphanet:ORPHA79445,SNOMED CT:237659007	Pseudopseudohypoparathyroidism	de novo;germline	20	58909737	GTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGG
-1	481731	NM_022455.4(NSD1):c.3457C>T (p.Gln1153Ter)	NSD1	Dec 13, 2017	MedGen:CN517202	not provided	germline	5	177211856	AGTGAGAATGATGAACTCAATGGTGTAAATCAAGTGGTGCCTAAAAAGCGGTGGCAGCGTT
387907230	44207	NM_005691.3(ABCC9):c.178C>T (p.His60Tyr)	ABCC9	May 18, 2012	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517	Hypertrichotic osteochondrodysplasia	germline	12	21933888	GGGAGCCAAAGCTCAAAAGTACAAATTCACCACAACACATGGCTTCATTTTCCGGGACATA
779077039	362515	NM_016239.3(MYO15A):c.4528C>T (p.Gln1510Ter)	MYO15A	Mar 01, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	inherited	17	18135756	GTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGCAGATCTCCC
150239404	407798	NM_018294.5(CWF19L1):c.622C>T (p.Arg208Ter)	CWF19L1	Aug 25, 2015	MedGen:CN517202	not provided	germline	10	100253422	GAAAAGACCTATTATGAGAGGCTTCCATATCGGTGAGTAGCATTTCATTCTTCTTGGCTTT
770053354	260136	NM_000512.4(GALNS):c.860C>T (p.Ser287Leu)	GALNS	Mar 16, 2015	MedGen:CN517202	not provided	germline	16	88835251	TCGCGGACAACACCTTCGTCTTCTTCACGTCGGACAACGGCGCTGCCCTCATTTCCGCCCC
121909680	31241	NM_000821.6(GGCX):c.1120C>T (p.Gln374Ter)	GGCX	Mar 01, 2007	MedGen:C1835813,OMIM:610842,Orphanet:ORPHA91135	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	germline	2	85553267	GCTGCCTTCACCCTGCTCTACCTCCTGGAGCAGCTATTCCTGCCCTATTCTCATTTTCTCA
137853040	21916	NM_003816.2(ADAM9):c.766C>T (p.Arg256Ter)	ADAM9	May 01, 2009	MedGen:C1423873,OMIM:612775	Cone-rod dystrophy 9	germline	8	39023177	TCTTCCCAGATGTATATTATGTTAAATATTCGAATTGTGCTAGTTGGACTGGAGATTTGGA
886044136	273490	NM_000214.2(JAG1):c.2122C>T (p.Gln708Ter)	JAG1	Jul 05, 2016	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10645248	ACACTGAAATATTTTCCTCCAGGTGACAGTCAGTGTGATGAGGCCACGTGCAACAACGGTG
72556296	103142	NM_000531.5(OTC):c.571C>T (p.Leu191Phe)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403648	GAACACTATAGCTCTCTGAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCC
121964977	27026	NM_000170.2(GLDC):c.2405C>T (p.Ala802Val)	GLDC	Jun 18, 2017	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline;inherited	9	6553420	AGGATGCCTGTCCTGTGGGAACCGTCAGTGCGGCCCCATGGGGCTCCAGTTCCATCTTGCC
199422153	34423	NM_018136.4(ASPM):c.3055C>T (p.Arg1019Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197125073	GTTGACATTGTTCTTCAAGTTCTTAAATCACGAGGAATTGAATTAAGTGATGAGCATGGTA
45517159	59338	NM_000548.4(TSC2):c.1255C>T (p.Pro419Ser)	TSC2	Dec 17, 2012	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2062006	GAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGTGAGACCCCCTCCTGGGTGGGGCCTTT
387906599	38577	NM_001822.5(CHN1):c.422C>T (p.Pro141Leu)	CHN1	May 01, 2011	MedGen:C0751083,OMIM:604356	Duane syndrome type 2	germline	2	174877967	CAGAATACATTGCCAAGATGACGATAAACCCAATTTATGAGCACGTAGGATACACAACCTT
137852634	24303	NM_001038.5(SCNN1A):c.1522C>T (p.Arg508Ter)	SCNN1A	Oct 01, 1999	MedGen:C1449843,OMIM:264350,Orphanet:ORPHA171876	Pseudohypoaldosteronism type 1 autosomal recessive	germline	12	6348981	TCCTAGGAATGGGTCTTCCAGATGCTATCGCGACAGAACAATTACACCGTCAACAACAAGA
397514761	75610	NM_002295.5(RPSA):c.556C>T (p.Arg186Cys)	RPSA	May 24, 2013	MedGen:C1849084,OMIM:271400	Asplenia, isolated congenital	germline	3	39411706	TGGATGCTGGCTCGGGAAGTTCTGCGCATGCGTGGCACCATTTCCCGTGAACACCCATGGG
137854467	31479	NM_000138.4(FBN1):c.364C>T (p.Arg122Cys)	FBN1	Aug 03, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C4016055;MedGen:CN517202	Marfan syndrome;Marfan syndrome, atypical;not provided	germline	15	48600217	CTTTTTTTTCAAGTACAACACTGCAATATTCGCTGTATGAATGGAGGTAGCTGCAGTGACG
74315467	18109	NM_000487.5(ARSA):c.641C>T (p.Ala214Val)	ARSA	Aug 18, 2016	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	germline;unknown	22	50626877	TGGCTTTCGCCCATGACCTCATGGCCGACGCCCAGCGCCAGGATCGCCCCTTCTTCCTGTA
71530923	187111	NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	WFS1	Apr 10, 2017	MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009;MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009;MedGen:C1833021,OMIM:600965;MedGen:C1857286,OMIM:614296,Orphanet:ORPHA411590;MedGen:CN517202	Diabetes mellitus AND insipidus with optic atrophy AND deafness;Diabetes mellitus AND insipidus with optic atrophy AND deafness;WFS1-Related Disorders;Wolfram-like syndrome, autosomal dominant;not provided	germline;maternal	4	6277579	TCGTTGGAGCAGGAGAGGAGCGAAAGGCCCCGAGCACCCGGACCCCAGGCTGGCCCTGGCC
772994617	452272	NM_018297.3(NGLY1):c.871C>T (p.Arg291Ter)	NGLY1	Aug 11, 2017	MedGen:C3808991,OMIM:615273,Orphanet:ORPHA404454	Congenital disorder of deglycosylation	germline	3	25739587	CATTACTGTGATGCCTGCCAGTTCAGCAATCGATTCCCAAGGTGGGTGCCCTGGATGGTAA
587778617	96774	NM_000535.6(PMS2):c.1261C>T (p.Arg421Ter)	PMS2	Nov 30, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided;not specified	germline	7	5987504	GAAAAAAAAGACGTGTCCATTTCCAGACTGCGAGAGGCCTTTTCTCTTCGTCACACAACAG
118203910	15693	NM_000130.4(F5):c.6304C>T (p.Arg2102Cys)	F5	Jan 01, 2003	MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED CT:4320005	Factor V deficiency	germline	1	169518453	TGGGGAGATTACTGGGAACCCTTCCGTGCCCGTCTGAATGCCCAGGGACGTGTGAATGCCT
-1	263840	NM_020975.4(RET):c.1196C>T (p.Pro399Leu)	RET	Nov 18, 2016	MedGen:C2931876,OMIM:142623	Hirschsprung disease 1	maternal	10	43109163	TCTTGCTCCACTTCAACGTGTCGGTGCTGCCGGTCAGCCTGCACCTGCCCAGTACCTACTC
727503911	177216	NM_003494.3(DYSF):c.3832C>T (p.Gln1278Ter)	DYSF	Mar 11, 2014	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71600831	GGGGAGCTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAGAAGGTGAGGCTGGTCTATATCC
587784236	169385	NM_000430.3(PAFAH1B1):c.1009C>T (p.His337Tyr)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2680170	TCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCC
-1	481491	NM_001001563.3(TIMM50):c.1024C>T (p.Arg342Trp)	TIMM50	Nov 02, 2017	MedGen:CN510468,OMIM:617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	maternal	19	39488079	ACTCACTTCCAGGATATTTCATGTCTGAATCGGGACCCAGCTCGAGTAGTAGTTGTGGACT
397514661	48740	NM_002354.2(EPCAM):c.412C>T (p.Arg138Ter)	EPCAM	Jul 01, 2013	MedGen:C2750737,OMIM:613217,Orphanet:ORPHA92050	Diarrhea 5, with tufting enteropathy, congenital	germline	2	47374035	GACAAGGACACTGAAATAACCTGCTCTGAGCGAGTGAGAACCTAGTGAGTGGGGCTGCCTA
137852305	25514	NM_000032.4(ALAS2):c.1231C>T (p.Arg411Cys)	ALAS2	Dec 01, 1998	MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED CT:62677000	Hereditary sideroblastic anemia	germline	X	55014953	GCCAGCACCCGTGACTTGGTGGACATGGTGCGCTCCTATGCTGCAGGCTTCATCTTTACCA
878855300	239642	NM_198253.2(TERT):c.2098C>T (p.Gln700Ter)	TERT	Dec 17, 2015	MedGen:C3151443,OMIM:613989	Dyskeratosis congenita, autosomal dominant, 2	germline	5	1279323	TGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAGGACCCGCCGCCTGAGCTGTACTTTGTCA
199422231	25536	NM_000202.7(IDS):c.1402C>T (p.Arg468Trp)	IDS	Jun 26, 2017	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009;MedGen:C0342842	Mucopolysaccharidosis, MPS-II;Mucopolysaccharidosis, type II, mild form	germline;unknown	X	149482997	CGTGAACTGATTGCCTATAGCCAGTATCCCCGGCCTTCAGACATCCCTCAGTGGAATTCTG
774649299	424646	NM_015340.3(LARS2):c.1987C>T (p.Arg663Trp)	LARS2	Jan 06, 2017	MedGen:C3809105,OMIM:615300	Perrault syndrome 4	maternal	3	45516219	GTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTG
-1	442593	NM_000302.3(PLOD1):c.583C>T (p.Gln195Ter)	PLOD1	Jul 06, 2017	MedGen:CN517202	not provided	germline	1	11954833	TGCAGTCTGGTACCTTCTTTCCTGCAGGAGCAGATCAATATCACCCTGGACCACCGCTGCC
104894136	16821	NM_000102.3(CYP17A1):c.715C>T (p.Arg239Ter)	CYP17A1	Jun 05, 2017	MedGen:CN068448;MedGen:C3277851;MedGen:CN517202	Breast cancer, susceptibility to;Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency;not provided	germline	10	102834074	CTGGAAAAATTAAAGAGCCATGTTAAAATACGAAATGATCTGCTGAATAAAATACTTGAAA
760574657	230005	NM_005422.2(TECTA):c.5977C>T (p.Arg1993Ter)	TECTA	Jan 03, 2016	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	11	121168903	ACACCCACCCGAGATAGCAATGATAAGCTCCGATATTTCATCATTGAAGGAGGGTGAGTAG
121912989	31898	NM_014208.3(DSPP):c.44C>T (p.Ala15Val)	DSPP	Jun 01, 2012	MedGen:C0205730,OMIM:125490,SNOMED CT:234969005	Dentinogenesis imperfecta - Shield's type II	germline	4	87610952	CATATTTTTGCATTTGGGCAGTAGCATGGGCCATTCCAGTAAGTATGCCTTTCTTAGAAAA
-1	426212	NM_000267.3(NF1):c.1039C>T (p.Gln347Ter)	NF1	Jun 27, 2017	MedGen:CN517202	not provided	germline	17	31200572	GAAGATAACTCTGTCATTTTCCTACTTGTTCAGTCCATGGTGGTTGATCTTAAGGTAACAT
756250205	236593	NM_007194.3(CHEK2):c.1486C>T (p.Gln496Ter)	CHEK2	Aug 04, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	22	28689191	TCACAGGATGAAGACATGAAGAGAAAGTTTCAAGATCTTCTGTCTGAGGAAAATGAATCCA
863225296	214544	NM_001256182.1(ANKRD11):c.7180C>T (p.Gln2394Ter)	ANKRD11	Sep 17, 2014	MedGen:C0220687,OMIM:148050,Orphanet:ORPHA2332	KBG syndrome	de novo	16	89279362	CCGCGCAAACGCCGCTTTCAGCGCTCCACCCAGCAGCTGCAGCAGCAGCTGAACACGTCCA
797045599	208289	NM_020988.2(GNAO1):c.680C>T (p.Ala227Val)	GNAO1	Jun 02, 2016	MedGen:C3809606,OMIM:615473;MedGen:CN517202	Early infantile epileptic encephalopathy 17;not provided	germline	16	56336817	AGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGA
-1	444665	NM_004329.2(BMPR1A):c.64C>T (p.Gln22Ter)	BMPR1A	Sep 19, 2017	MedGen:CN517202	not provided	germline	10	86876082	GGAGCCTATTTGTTCATCATTTCTCGTGTTCAAGGTAAATCAGTGTTCATTTTAGTAATGT
1131691178	421051	NM_004329.2(BMPR1A):c.454C>T (p.Arg152Ter)	BMPR1A	Mar 08, 2012	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	86900050	TTGTCAGGTCCGTTTTTTGATGGCAGCATTCGATGGCTGGTTTTGCTCATTTCTATGGCTG
587777630	153737	NM_007315.3(STAT1):c.1154C>T (p.Thr385Met)	STAT1	Sep 01, 2013	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190986921	ATAGATTTAGGAAGTTCAACATTTTGGGCACGCACACAAAAGTGATGAACATGGAGGAGTC
199469705	39767	NM_138501.5(TECR):c.545C>T (p.Pro182Leu)	TECR	Dec 20, 2013	MedGen:C3151462,OMIM:614020	Mental retardation, autosomal recessive 14	germline	19	14564841	CCGCGTGGATGGCCTATTACATCAATCACCCTCTCTACACTCCCCCTAGTAAGTGGCCTCA
797044590	188163	NM_002055.4(GFAP):c.1154C>T (p.Ser385Phe)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44910632	TCAGGATCACCATTCCCGTGCAGACCTTCTCCAACCTGCAGATTCGAGGTCAGTACAGCAG
111033542	27055	NM_000532.4(PCCB):c.1283C>T (p.Thr428Ile)	PCCB	Jul 08, 2016	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136327239	CATTTGCTGAGGCAACTGTACCCAAAGTCACAGTCATCACCAGGAAGGTGAGGACCTCATG
786204126	185966	NM_014946.3(SPAST):c.1291C>T (p.Arg431Ter)	SPAST	Aug 16, 2017	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985;MedGen:CN517202	Spastic paraplegia 4, autosomal dominant;not provided	germline	2	32136608	AAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAG
121908502	20736	NM_012448.3(STAT5B):c.454C>T (p.Arg152Ter)	STAT5B	Nov 01, 2006	MedGen:C1855548,OMIM:245590,Orphanet:ORPHA220465	Growth hormone insensitivity with immunodeficiency	germline	17	42223478	CTCCAGATCAACCAGACGTTTGAGGAGCTGCGACTGGTCACGCAGGACACAGAGAATGAGT
104894392	27092	NM_000504.3(F10):c.1096C>T (p.Arg366Cys)	F10	Oct 01, 1989	MedGen:C0015519,OMIM:227600,Orphanet:ORPHA328,SNOMED CT:76642003	Factor X deficiency	germline	13	113149146	CAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCA
121909625	31435	NM_005141.4(FGB):c.139C>T (p.Arg47Ter)	FGB	Apr 15, 2004	MedGen:C2584774,OMIM:202400,Orphanet:ORPHA98880	Afibrinogenemia, congenital	germline	4	154565832	TTGTAGGGTTTCTTCAGTGCCCGTGGTCATCGACCCCTTGACAAGAAGAGAGAAGAGGCTC
137852974	19584	NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter)	BSCL2	Apr 04, 2017	MedGen:C1720863,OMIM:269700	Congenital generalized lipodystrophy type 2	germline	11	62691132	TCAGTAGTTTTTCCTCCACAGGTTAACATCCGAAAAAGAGACAATTCCCGGAAGGAAGTCC
80358573	66106	NM_000059.3(BRCA2):c.3265C>T (p.Gln1089Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32337620	TCTGATTGTAAAAATAGTCATATAACCCCTCAGATGTTATTTTCCAAGCAGGATTTTAATT
1057520600	364395	NM_020699.3(GATAD2B):c.658C>T (p.Gln220Ter)	GATAD2B	Apr 24, 2015	MedGen:CN517202	not provided	germline	1	153818111	GTTCAGCCATCTCCTGCCCATGTGGGACAGCAGGGCCTATCTAAGCTTCCCTCTCGGCCTG
749466673	239695	NM_005732.3(RAD50):c.1966C>T (p.Arg656Ter)	RAD50	Mar 17, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132595041	AAAGAGGAAATTGAAAAATCATCAAAACAGCGAGGTAAGTTGTCTACTTTATATTATCAGG
750650768	478077	NM_024675.3(PALB2):c.2512C>T (p.Gln838Ter)	PALB2	Jun 09, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23629642	TGCCAGGAGCTGCATAAACATTCCGTCGAACAGGTACAATCCATTTCCTCTGTGAAATTTT
587777875	165484	NM_001127660.1(MFN2):c.775C>T (p.Arg259Cys)	MFN2	Apr 11, 2017	MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2A2A;not provided	germline	1	11999054	TCCCGGCCAAACATCTTCATCCTGAACAACCGCTGGGATGCATCTGCCTCAGAGCCCGAGT
63751229	33172	NM_000021.3(PSEN1):c.799C>T (p.Pro267Ser)	PSEN1	Nov 02, 2016	MedGen:C1843013,OMIM:607822;MedGen:CN517202	Alzheimer disease, type 3;not provided	germline	14	73198060	GATTTAGTGGCTGTTTTGTGTCCGAAAGGTCCACTTCGTATGCTGGTTGAAACAGCTCAGG
1085307608	415335	NM_001844.4(COL2A1):c.1597C>T (p.Arg533Ter)	COL2A1	Apr 18, 2017	MedGen:CN517202	not provided	germline	12	47985811	TGTGTACCCTTGTAGGGAGCCCCTGGAGAGCGAGGGCCCAGTGGTCTTGCTGGCCCCAAGG
104893894	29882	NM_002185.4(IL7R):c.394C>T (p.Pro132Ser)	IL7R	Oct 15, 2000	MedGen:C1837028,OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	germline	5	35871070	TCTTTTTCTTTTCCAGTTAAACCTGAGGCTCCTTTTGACCTGAGTGTCGTCTATCGGGAAG
121912854	32501	NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter)	COL7A1	May 07, 2015	Human Phenotype Ontology:HP:0008066,MedGen:C0241054;Human Phenotype Ontology:HP:0000682,MedGen:C4021800;Human Phenotype Ontology:HP:0000164,MedGen:C0262444;Human Phenotype Ontology:HP:0002293,MedGen:C1860137;Human Phenotype Ontology:HP:0004325,MedGen:CN003826;Human Phenotype Ontology:HP:0002460,MedGen:C1864696;Human Phenotype Ontology:HP:0003457,MedGen:C0476403;MedGen:C2673612;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0000953,MedGen:C0162834,Orphanet:ORPHA79375;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0008404,MedGen:C0221260;MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;Human Phenotype Ontology:HP:0100699,MedGen:C0008767;Human Phenotype Ontology:HP:0004552,MedGen:C3806301;Human Phenotype Ontology:HP:0004322,MedGen:C0349588	Abnormal blistering of the skin;Abnormality of dental enamel;Abnormality of the teeth;Alopecia of scalp;Decreased body weight;Distal muscle weakness;EMG abnormality;Epidermolysis bullosa dystrophica inversa, autosomal recessive;Failure to thrive;Hyperpigmentation of the skin;Microcephaly;Nail dystrophy;Recessive dystrophic epidermolysis bullosa;Scarring;Scarring alopecia of scalp;Short stature	germline;unknown	3	48592915	TTCCCAGCGGATGACTCGACCTCTGCTCCACGAGACCTGGTGCTGTCTGAGCCAAGCAGCC
-1	481762	NM_006772.2(SYNGAP1):c.3277C>T (p.Gln1093Ter)	SYNGAP1	Jun 29, 2017	MedGen:CN517202	not provided	germline	6	33443829	AAACCCCGGCCATCCAGCGGGAATCTATTGCAGTCCCCAGAGCCAAGTTATGGCCCCGCCC
113994162	34315	NM_006517.4(SLC16A2):c.359C>T (p.Ser120Phe)	SLC16A2	Mar 09, 2010	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	not provided	X	74421996	GCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGA
746155190	247324	NM_014251.2(SLC25A13):c.775C>T (p.Gln259Ter)	SLC25A13	Feb 23, 2010	MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598	Neonatal intrahepatic cholestasis caused by citrin deficiency	paternal	7	96189654	TTCCATACAGAGGAGTTTGTTCTGGCAGCTCAGAAATTTGGTCAGGTTACACCCATGGAAG
587783522	169930	NM_178151.2(DCX):c.130C>T (p.Gln44Ter)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410269	CACTGTAGCTTCTACCGAACCAGAACCTTGCAGGCACTGAGTAATGAGAAGAAAGCCAAGA
771866012	472249	NM_004273.4(CHST3):c.491C>T (p.Pro164Leu)	CHST3	-	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	inherited	10	72007522	AGCAGGGCAACATCTTCTACCTCTTCGAGCCGCTGTGGCACATCGAGCGCACAGTGTCCTT
121917921	79463	NM_006920.4(SCN1A):c.5315C>T (p.Ala1772Val)	SCN1A	Jun 02, 2016	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	de novo;germline;unknown	2	165991927	CCTTCCTGGTTGTGGTGAACATGTACATCGCGGTCATCCTGGAGAACTTCAGTGTTGCTAC
137853030	21545	NM_001080463.1(DYNC2H1):c.1759C>T (p.Arg587Cys)	DYNC2H1	Jun 01, 2017	MedGen:CN674505;MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Short-rib polydactyly syndrome type III;Short-rib thoracic dysplasia 3 with or without polydactyly	germline;paternal;unknown	11	103125197	GATCGTTTGGTGATTCTTCTGAGAGAAGTTCGTCAGCTCTCTGCACTTGGCTTTGTTATTC
121918591	28047	NM_144563.2(RPIA):c.404C>T (p.Ala135Val)	RPIA	Apr 01, 2004	MedGen:C1291609,OMIM:608611,Orphanet:ORPHA440706,SNOMED CT:124667004	Deficiency of ribose-5-phosphate isomerase	germline	2	88729279	TCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGAC
797045014	205022	NM_000435.2(NOTCH3):c.457C>T (p.Arg153Cys)	NOTCH3	Apr 22, 2014	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	unknown	19	15192182	CTCTGCTCCTGCCCACCTGGCTACCAGGGCCGCAGCTGCCGAAGCGACGTGGATGAGTGCC
397515537	76533	NM_001024630.3(RUNX2):c.1171C>T (p.Arg391Ter)	RUNX2	Aug 29, 2013	MedGen:C0008928,OMIM:119600,Orphanet:ORPHA1452,SNOMED CT:65976001	Cleidocranial dysostosis	not provided	6	45546910	TCCCTCACTGAGAGCCGCTTCTCCAACCCACGAATGCACTATCCAGCCACCTTTACTTACA
137854571	15842	NM_000038.5(APC):c.3199C>T (p.Gln1067Ter)	APC	Jun 01, 1992	Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007	Neoplasm of stomach	somatic	5	112838793	GAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTG
398124636	31519	NM_000146.3(FTL):c.-161C>T	FTL	Feb 19, 2013	MedGen:C1833213,OMIM:600886,Orphanet:ORPHA163	Hyperferritinemia cataract syndrome	germline	19	48965347	GCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTC
28935496	25879	NM_000054.4(AVPR2):c.337C>T (p.Arg113Trp)	AVPR2	May 27, 1993	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153905843	GACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCA
137852642	24264	NM_000435.2(NOTCH3):c.397C>T (p.Arg133Cys)	NOTCH3	May 03, 2017	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003;Human Phenotype Ontology:HP:0007236,MedGen:C4024918;MedGen:CN517202	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;Recurrent subcortical infarcts;not provided	germline;unknown	19	15192242	TGCCTCAGCAGCCCTTGTGCCCACGGTGCCCGCTGCTCAGTGGGGCCCGATGGACGCTTCC
878853904	242695	NM_000267.3(NF1):c.5608C>T (p.Gln1870Ter)	NF1	Mar 18, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31330357	ACTTGTACCTTTAATTTAAAAATCGAGGGCCAGTTACTAGAGACATCAGGTTTATGTATCC
864309648	215636	NM_002336.2(LRP6):c.56C>T (p.Ala19Val)	LRP6	Oct 01, 2015	MedGen:C4225231,OMIM:616724	Tooth agenesis, selective, 7	germline	12	12244655	CACTTACATATTTTTCTTTTTTTGTTCTAGCGGCCCCTTTGTTGCTTTATGCAAACAGACG
121912521	29428	NM_000233.3(LHCGR):c.1730C>T (p.Thr577Ile)	LHCGR	Feb 01, 1995	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003	Gonadotropin-independent familial sexual precocity	germline	2	48688067	TTGCTAAGAAAATGGCAATCCTCATCTTCACCGATTTCACCTGCATGGCACCTATCTCTTT
376672665	39683	NM_022137.5(SMOC1):c.718C>T (p.Gln240Ter)	SMOC1	Jan 07, 2011	MedGen:C0599973,OMIM:206920	Anophthalmos with limb anomalies	germline	14	70010807	GAGAGGCAGAGTGCCCTGGAAGAGGCCCAGCAGAATCCCCGTGAGGGTATTGTCATCCCTG
1131691548	421975	NM_001170629.1(CHD8):c.2854C>T (p.Arg952Ter)	CHD8	Sep 01, 2015	MedGen:CN517202	not provided	germline	14	21406909	TGGCGTTGTGTTATCATTGATGAAGCCCATCGACTGAAAAACCGTAATTGCAAGCTGCTTG
121917745	28159	NM_000329.2(RPE65):c.1543C>T (p.Arg515Trp)	RPE65	Dec 01, 2004	MedGen:C1859844,OMIM:204100;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151086,OMIM:613794;MedGen:CN517202	Leber congenital amaurosis 2;Retinitis pigmentosa;Retinitis pigmentosa 20;not provided	germline	1	68429835	CTGAATGCCAAGGACTTAAGTGAAGTTGCCCGGGCTGAAGTGGAGATTAACATCCCTGTCA
762281715	268450	NM_005529.6(HSPG2):c.10894C>T (p.Arg3632Ter)	HSPG2	Oct 30, 2015	MedGen:C0432208,OMIM:224410,SNOMED CT:93132001;MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800	Lethal Kniest-like syndrome;Schwartz Jampel syndrome type 1	germline	1	21833551	GAGAACAACATGCTGATGCTGCCCTCAGTCCGACCCCAGGACGCAGGTACCTACGTCTGCA
63750347	96671	NM_000251.2(MSH2):c.754C>T (p.Gln252Ter)	MSH2	Sep 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47412522	AACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGG
80358223	31221	NM_002353.2(TACSTD2):c.352C>T (p.Gln118Ter)	TACSTD2	Apr 01, 1999	MedGen:C0339273,OMIM:204870,Orphanet:ORPHA98957,SNOMED CT:231928002,SNOMED CT:418946006	Lattice corneal dystrophy Type III	germline	1	58576805	TGCGACCCCGAGGGCCGCTTCAAGGCGCGCCAGTGCAACCAGACGTCGGTGTGCTGGTGCG
201915239	150469	NM_152617.3(RNF168):c.391C>T (p.Arg131Ter)	RNF168	Sep 01, 2011	MedGen:C2677792,OMIM:611943,Orphanet:ORPHA420741	Riddle syndrome	germline	3	196487566	TTATTAATCACTTTTAAGGTGGCGGCAGAGCGACGGGCCAGCGAGGAAGAAGAAAACAAAG
137852704	23869	NM_000336.2(SCNN1B):c.1696C>T (p.Arg566Ter)	SCNN1B	Jun 23, 2016	MedGen:C0221043,OMIM:177200,Orphanet:ORPHA526,SNOMED CT:71275003	Pseudoprimary hyperaldosteronism	germline;inherited	16	23380574	GTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGC
121909800	22795	NM_001017535.1(VDR):c.1171C>T (p.Arg391Cys)	VDR	Dec 01, 1996	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47844859	GCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGT
398123660	99893	NM_001918.3(DBT):c.1291C>T (p.Arg431Ter)	DBT	Aug 23, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	1	100196413	TTTTTTTTTTTTCATTTCTAGGCCATTCCCCGATTTAACCAGAAAGGAGAAGTATATAAGG
104894673	22461	NM_000554.5(CRX):c.268C>T (p.Arg90Trp)	CRX	Feb 01, 1999	MedGen:C3151192,OMIM:613829;MedGen:CN517202	Leber congenital amaurosis 7;not provided	germline	19	47839335	GCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGC
121908060	19205	NM_002772.2(TMPRSS15):c.781C>T (p.Gln261Ter)	TMPRSS15	Jan 01, 2002	MedGen:C0268416,OMIM:226200,Orphanet:ORPHA168601,SNOMED CT:124498007,SNOMED CT:190952002	Enterokinase deficiency	germline	21	18359856	TCTATTTTTTGCTTTTAATTTAGTGTAAACCAAGGACTTTCCATTAAACTGAGCTTCGATG
397509388	59801	NM_201647.3(STAMBP):c.532C>T (p.Arg178Ter)	STAMBP	May 01, 2013	MedGen:C3280296,OMIM:614261,Orphanet:ORPHA294016	Microcephaly-capillary malformation syndrome	germline	2	73847543	ATGATCCGGAACCAGGAGCTAGAAAAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGG
876659067	234108	NM_000051.3(ATM):c.3511C>T (p.Gln1171Ter)	ATM	Sep 06, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108281103	GTTTTATCCTGTAGCCCTATCTGCGAAAAACAGGCTTTGTTTGCCCTGTGTAAATCTGTGA
72556284	103129	NM_000531.5(OTC):c.533C>T (p.Thr178Met)	OTC	Mar 07, 2016	MedGen:CN517202	not provided	germline;unknown	X	38401421	ATCCTATCCAGATCCTGGCTGATTACCTCACGCTCCAGGTTGGTTTATTTATTTGTCTTAC
-1	442119	NM_000435.2(NOTCH3):c.2953C>T (p.Arg985Cys)	NOTCH3	Sep 03, 2014	MedGen:CN517202	not provided	germline	19	15181002	GGCGTCTGCAGCGCCGCCCACCCTGGCTTCCGCTGCACCTGCCTCGAGAGCTTCACGGGCC
200287925	151917	NM_002485.4(NBN):c.127C>T (p.Arg43Ter)	NBN	Oct 30, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;not provided	germline;unknown	8	89982766	ATTCTGATTGAAAATGATCAGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTT
121912571	23608	NM_000901.4(NR3C2):c.2017C>T (p.Arg673Ter)	NR3C2	Mar 27, 2017	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline;paternal	4	148154899	TGGCCTTATCATTTATGGTTTCTTATAGCACGAAAGTCAAAGAAGTTGGGAAAGTTAAAAG
397508778	68703	NM_000492.3(CFTR):c.658C>T (p.Gln220Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117535326	CTCCTCATGGGGCTAATCTGGGAGTTGTTACAGGCGTCTGCCTTCTGTGGACTTGGTTTCC
775224457	187650	NM_138387.3(G6PC3):c.130C>T (p.Pro44Ser)	G6PC3	May 03, 2016	MedGen:C2675526,OMIM:612541,Orphanet:ORPHA331176	Severe congenital neutropenia 4, autosomal recessive	germline	17	44071095	GATCCCAAGATCCTCTTTCTGTTCTACTTCCCCGCGGCCTACTACGCCTCCCGCCGTGTGG
62638185	23043	NM_002905.3(RDH5):c.218C>T (p.Ser73Phe)	RDH5	Jun 01, 1999	MedGen:C4016746	Fundus albipunctatus, autosomal recessive	germline	12	55721402	CCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATAT
118192205	34650	NM_172107.3(KCNQ2):c.727C>T (p.Leu243Phe)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63442495	GTCACTGCCTGGTACATCGGCTTCCTTTGTCTCATCCTGGCCTCGTTCCTGGTGTACTTGG
104894164	31665	NM_001002295.1(GATA3):c.1099C>T (p.Arg367Ter)	GATA3	Feb 15, 2009	MedGen:C1840333,OMIM:146255,Orphanet:ORPHA2237	Barakat syndrome	germline	10	8073787	ATGAAGAAGGAAGGCATCCAGACCAGAAACCGAAAAATGTCTAGCAAATCCAAAAAGTGCA
386833763	70954	NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter)	CC2D2A	Mar 11, 2016	MedGen:C2676790,OMIM:612284	Meckel syndrome type 6	germline	4	15510217	TACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGTGAGAA
-1	440201	NM_001080463.1(DYNC2H1):c.10624C>T (p.Gln3542Ter)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	paternal	11	103257749	CGACTTTTCCAACGAGCTCTACAAAACAAACAGGTAAGCTGTTGGATACCCTGTACCAGAG
111706634	16336	NM_001042702.3(PJVK):c.547C>T (p.Arg183Trp)	PJVK	Jul 01, 2007	MedGen:C1857744,OMIM:610220	Deafness, autosomal recessive 59	germline	2	178456149	GTGCATGCTGGAATTCGAGGGGAAGCAATGCGGGTAAACCACACTTGTTGGGTTCTCTTAC
1131692148	418956	NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter)	HPS5	Mar 14, 2017	MedGen:C3888004,OMIM:614074	Hermansky-Pudlak syndrome 5	unknown	11	18296891	TCAGATGAAGACTCTTGCTCCCTTCACAGCCAAACCCTCTCAGAAGATGAGAGATTTAAAG
121909723	31201	NM_002437.4(MPV17):c.148C>T (p.Arg50Trp)	MPV17	Aug 28, 2016	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229;MedGen:CN517202	Navajo neurohepatopathy;not provided	germline	2	27313032	AGGCGGGGTCTGCAGGAACACCAGAGAGGCCGGACTCTGACCATGGTGTCCCTGGGCTGTG
752616462	361825	NM_001128608.1(MAPKBP1):c.2827C>T (p.Gln943Ter)	MAPKBP1	May 22, 2017	MedGen:CN781300,OMIM:617271	Nephronophthisis 20	germline	15	41821674	TTATTGTCACAAGAGGAAGGGGTCTTTGCCCAAGATCTGGAACCTGCACCCATTGAAGATG
121918152	15707	NM_000312.3(PROC):c.658C>T (p.Arg220Trp)	PROC	Dec 25, 1989	MedGen:C2674321,OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	germline	2	127426207	CCGCGGCTCATTGATGGGAAGATGACCAGGCGGGGAGACAGCCCCTGGCAGGTGGGAGGCG
587777778	166144	NM_058179.3(PSAT1):c.296C>T (p.Ala99Val)	PSAT1	Sep 04, 2014	MedGen:C4015019,OMIM:616038	Neu-laxova syndrome 2	germline	9	78304839	ACCTCATTGGCTTGAAAGCAGGAAGGTGTGCTGACTATGTGGTGACAGGAGCTTGGTCAGC
397514740	75274	NM_001271.3(CHD2):c.361C>T (p.Arg121Ter)	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	92927310	CGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAA
727502794	171913	NM_006701.4(TXNL4A):c.37C>T (p.Gln13Ter)	TXNL4A	Mar 28, 2016	MedGen:C1837822,OMIM:608572,Orphanet:ORPHA1200;MedGen:C1837822,OMIM:608572,Orphanet:ORPHA1200	Burn-McKeown syndrome;Burn-McKeown syndrome	germline	18	79988356	TACATGCTCCCGCACCTGCACAACGGCTGGCAGGTGGACCAGGCCATCCTCTCGGAGGAGG
794727473	193341	NM_014714.3(IFT140):c.3991C>T (p.Gln1331Ter)	IFT140	Feb 27, 2015	MedGen:C1849437,OMIM:266920,Orphanet:ORPHA140969	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	germline	16	1519930	AGCCCCCTGGACCAGGAGACCAGGCTGGCGCAGCTGCAGAGCAGGATGGCACTGGTGAAGA
587776935	48413	NM_005465.4(AKT3):c.1393C>T (p.Arg465Trp)	AKT3	Aug 08, 2016	Human Phenotype Ontology:HP:0005306,MedGen:C0085666;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0000256,MedGen:C2243051,OMIM:248000;MedGen:C4014738,OMIM:615937;Human Phenotype Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981	Capillary hemangiomas;Global developmental delay;Macrocephaly;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2;Polymicrogyria	germline;unknown	1	243505296	GATGGTATGGACTGCATGGACAATGAGAGGCGGCCGCATTTCCCTCAATTTTCCTACTCTG
113993998	34397	NM_016038.3(SBDS):c.652C>T (p.Arg218Ter)	SBDS	Jul 17, 2008	MedGen:C0272170,OMIM:260400,Orphanet:ORPHA811,SNOMED CT:89454001	Shwachman syndrome	not provided	7	66988472	CAGGTATGTCTGATTGACCCGGGCTGCTTCCGAGAAATTGATGAGCTAATAAAAAAGGAAA
104893737	19899	NM_023067.3(FOXL2):c.157C>T (p.Gln53Ter)	FOXL2	Dec 01, 2005	MedGen:C2931135	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1	germline	3	138946566	GGGACAGCCCCGGAGAAGCCGGACCCGGCGCAGAAGCCCCCGTACTCGTACGTGGCGCTCA
119471021	19164	NM_022081.5(HPS4):c.1891C>T (p.Gln631Ter)	HPS4	Oct 11, 2012	MedGen:C3484357,OMIM:614073	Hermansky-Pudlak syndrome 4	germline	22	26457923	GTGGCCACCCCGCAGGATCGCCGCTTCCTCCAGGCCGTCAGCCTGATGCATAGCGAATTTG
587776983	263169	NM_006087.3(TUBB4A):c.4C>T (p.Arg2Trp)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6502209	GCCGCGTCCACCCTCAGCGCCACCGCCATGCGGGAGATCGTGCACCTGCAGGCCGGCCAGT
113994153	17161	NM_207346.2(TSEN54):c.736C>T (p.Gln246Ter)	TSEN54	Sep 08, 2009	MedGen:C1856974,OMIM:225753,Orphanet:ORPHA166063	Pontocerebellar hypoplasia type 4	germline	17	75521817	CAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGG
750447037	264204	NM_020732.3(ARID1B):c.5338C>T (p.Gln1780Ter)	ARID1B	Feb 28, 2017	MedGen:CN517202	not provided	germline	6	157206479	GCCGCTGCAGACCCAAAGGAGAAGCCCAAGCAAGCCAGTAAGTTCGACAAGCTGCCAATAA
367543061	40176	NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp)	CPLANE1	Apr 18, 2017	MedGen:C3553264,OMIM:614615;MedGen:CN517202	Joubert syndrome 17;not provided	germline;unknown	5	37187488	GAATGGGCTTATAGAATGCTGCCTTTCTCTCGGTTTTTTAATATGGAAGAACTTATTCAGG
118204058	16563	NM_000237.2(LPL):c.397C>T (p.Gln133Ter)	LPL	Jul 01, 1990	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19951916	GTGTCCGCGGGCTACACCAAACTGGTGGGACAGGATGTGGCCCGGTTTATCAACTGGATGG
267606959	28555	NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu)	POLG	Aug 16, 2016	MedGen:C3150914,OMIM:613662;MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED CT:20415001;MedGen:CN517202	Mitochondrial DNA depletion syndrome 4B, MNGIE type;Progressive sclerosing poliodystrophy;not provided	germline	15	89318986	GCATTGCTACGTCTGACATACCACGTACCCCGGTGCTGGGCTGCTGCATCAGCCGAGCCCT
5030851	15628	NM_000277.2(PAH):c.842C>T (p.Pro281Leu)	PAH	Oct 19, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852815	ATGGATCCAAGCCCATGTATACCCCCGAACCGTGAGTACTGTCCTCCAGCTACCAGTTGCC
-1	459569	NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter)	GLDC	Jul 11, 2017	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	9	6550845	GCGATATTAAATGCCAACTACATGGCCAAGCGATTAGAAACACACTACAGAATTCTTTTCA
752599948	416153	NM_021222.2(PRUNE1):c.889C>T (p.Arg297Trp)	PRUNE1	Sep 19, 2017	MedGen:CN243994,OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	germline	1	151028900	ATCTTTTTCAACACTCACAATGAGCCAGTGCGGCAGTTGGCTATTTTCTGTCCCCATGTGG
587777133	106527	NM_144672.3(OTOA):c.1879C>T (p.Pro627Ser)	OTOA	Sep 01, 2013	MedGen:C1846896,OMIM:607039	Deafness, autosomal recessive 22	germline	16	21722977	TCTATGCCACCTTTCCTCTTGGCTGCACTCCCGTAAGTGAACATCAGCCCCCACCTTCTGG
149491038	48029	NM_001558.3(IL10RA):c.784C>T (p.Arg262Cys)	IL10RA	Aug 01, 2011	MedGen:C4016214	Inflammatory bowel disease 28	germline	11	117995684	TACTGCCTGGCCCTCCAGCTGTATGTGCGGCGCCGAAAGAAGCTACCCAGTGTCCTGGTGA
587784234	170172	NM_002547.2(OPHN1):c.496C>T (p.Gln166Ter)	OPHN1	Feb 08, 2013	MedGen:C1845366,OMIM:300486,Orphanet:ORPHA137831	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	germline	X	68213963	TTTGTTTTCCTTCTTCTACAGGCAGACCTACAGGTGGACAAGGAGAGGCACAATTTTTTCG
1131692220	424336	NM_000527.4(LDLR):c.2044C>T (p.Leu682Phe)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120426	CTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGC
398124099	100749	NM_004006.2(DMD):c.961-5831C>T	DMD	Jul 25, 2017	MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32650983	AGAACCACCAGTTACCTTTGTGACCTTTGGCAAGTCATCTAATTTTTCTATTTCCATTTCC
747483368	427500	NM_001009944.2(PKD1):c.2215C>T (p.Gln739Ter)	PKD1	-	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	16	2114808	TGCTCGCCGGCTCCCGGCCACCCTGGTCCCCGGGCCCCGTACCTCTCCGCCAACGCCTCGT
80358994	67054	NM_000059.3(BRCA2):c.7681C>T (p.Gln2561Ter)	BRCA2	Nov 02, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN169374	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified	germline	13	32357805	AAAATTAACAGCAAAAATGCAGAGTCTTTTCAGTTTCACACTGAAGATTATTTTGGTAAGG
886039544	260011	NM_000545.6(HNF1A):c.779C>T (p.Thr260Met)	HNF1A	Feb 23, 2016	MedGen:CN517202	not provided	germline	12	120994229	AGGCACAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAA
121908095	19314	NM_005857.4(ZMPSTE24):c.743C>T (p.Pro248Leu)	ZMPSTE24	Nov 01, 2010	MedGen:C1837756,OMIM:608612,Orphanet:ORPHA90154;MedGen:CN517202	Mandibuloacral dysplasia with type B lipodystrophy;not provided	germline	1	40272009	TTGAAGTAATGGCAAAGAGTATTGACTTTCCTTTGACGAAGGTGTATGTTGTGGAAGGTAA
1064793163	411165	NM_000425.4(L1CAM):c.1408C>T (p.Gln470Ter)	L1CAM	Feb 06, 2017	MedGen:CN517202	not provided	germline	X	153868699	AGGCTGGACGAGGATGGGACAACAGTGCTTCAGGACGAACGCTTCTTCCCCTATGCCAATG
45471299	27365	NM_199292.2(TH):c.1481C>T (p.Thr494Met)	TH	Oct 24, 2016	Human Phenotype Ontology:HP:0001332,MedGen:C0013421;MedGen:C1854299,OMIM:605407	Dystonia;Segawa syndrome, autosomal recessive	germline	11	2164339	GCCCCTTCTCCGTGAAGTTCGACCCGTACACGCTGGCCATCGACGTGCTGGACAGCCCCCA
144948296	442483	NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)	STRC	Dec 11, 2017	MedGen:C1863561,OMIM:603720	Deafness, autosomal recessive 16	inherited	15	43604750	GGGACAGAGAGCACACGACAGATCCCCCTACAGATCCTGCTGTCCCATCTCAGTCAGCTGC
61749729	153373	NM_004992.3(MECP2):c.622C>T (p.Gln208Ter)	MECP2	Sep 05, 2002	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	unknown	X	154031206	AGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTG
121912746	32804	NM_000342.3(SLC4A1):c.1838C>T (p.Ser613Phe)	SLC4A1	Oct 01, 1997	MedGen:C0259810,OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	germline	17	44255259	GGGTCATCGGGGACTTCGGGGTCCCCATCTCCATCCTGATCATGGTCCTGGTGGATTTCTT
145646425	45871	NM_014956.4(CEP164):c.1726C>T (p.Arg576Ter)	CEP164	Oct 08, 2012	MedGen:C3541853,OMIM:614845	Nephronophthisis 15	germline	11	117387204	GATGATATGCCATTCCCCACCCATGGTAGGCGATCCACAGAGCCTGTGGCTCCCCCAGAGC
-1	463004	NM_003482.3(KMT2D):c.4204C>T (p.Gln1402Ter)	KMT2D	Jun 19, 2017	MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:313426007	Kabuki syndrome	germline	12	49047997	GGCCACCTCCTTGCCTGTTCGCAGTGCTCTCAGTGCTATCACCCTTACTGTGTCAACAGCA
80358831	46567	NM_000059.3(BRCA2):c.5980C>T (p.Gln1994Ter)	BRCA2	Mar 16, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome	germline	13	32340335	AAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAG
62507348	108524	NM_000277.2(PAH):c.694C>T (p.Gln232Ter)	PAH	May 19, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102855148	GATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGT
863224957	213829	NM_000070.2(CAPN3):c.1465C>T (p.Arg489Trp)	CAPN3	Sep 19, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42401751	AGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTC
59206042	426920	NM_001171.5(ABCC6):c.2659C>T (p.Arg887Cys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16175918	ACCTCTGCAGGCAGGAGGCCCGAGCTTAGACGCGAGAGGTGAGTCCACCATGGTGCCACAC
118192251	34269	NM_004519.3(KCNQ3):c.988C>T (p.Arg330Cys)	KCNQ3	Nov 10, 2016	MedGen:CN200689,Orphanet:ORPHA1949;MedGen:C1852581,OMIM:121201	Benign familial neonatal seizures;Benign familial neonatal seizures 2	germline	8	132174295	GGAGACAAGACACCCAAAACGTGGGAAGGCCGTCTGATTGCCGCCACCTTTTCCTTAATTG
387907168	40272	NM_181755.2(HSD11B1):c.409C>T (p.Arg137Cys)	HSD11B1	Mar 08, 2011	MedGen:C3553382,OMIM:614662	Cortisone reductase deficiency 2	germline	1	209707020	AATCTTTTTCATGATGATATTCACCATGTGCGCAAAAGCATGGAAGTCAACTTCCTCAGTT
74315476	18120	NM_000487.5(ARSA):c.1114C>T (p.Arg372Trp)	ARSA	Apr 12, 2016	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C4017094	Metachromatic leukodystrophy;Metachromatic leukodystrophy, severe	germline;unknown	22	50625675	CGTGACCCCTGACTCTGCCCCCAGAGCCCTCGGCAGTCTCTCTTCTTCTACCCGTCCTACC
1085307118	404675	NM_017414.3(USP18):c.652C>T (p.Gln218Ter)	USP18	Mar 26, 2017	MedGen:CN241835,OMIM:617397	Pseudo-torch syndrome 2	germline	22	18169868	GGACAGGAGGACGCCCTGCACTGCTTCTTCCAGCCCAGGGAGTTATCAAGCAAAAGCAAGT
1057519512	362297	NM_001003694.1(BRPF1):c.2497C>T (p.Arg833Ter)	BRPF1	Oct 24, 2017	MedGen:C4310617,OMIM:617333;MedGen:CN517202	Intellectual developmental disorder with dysmorphic facies and ptosis;not provided	germline	3	9743763	ACGGCACTGCGGCGGAAGCTTGCCCATCAGCGAGAGACGGGACGTGATGGCCCTGAGCGGC
876659625	232270	NM_001128425.1(MUTYH):c.421C>T (p.Gln141Ter)	MUTYH	Jun 04, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	45333138	TGGGTCTCAGAGGTCATGCTGCAGCAGACCCAGGTTGCCACTGTGATCAACTACTATACCG
-1	482243	NM_003639.4(IKBKG):c.868C>T (p.Gln290Ter)	IKBKG	Nov 01, 2017	MedGen:CN517202	not provided	germline	X	154562909	GTGATCGATAAGCTGAAGGAGGAGGCCGAGCAGCACAAGATTGTGATGGAGACCGTTCCGG
786205208	188055	NM_001008537.2(NEXMIF):c.1882C>T (p.Arg628Ter)	NEXMIF	Oct 06, 2017	MedGen:C3806730,OMIM:300912,Orphanet:ORPHA85277;MedGen:CN517202	Mental retardation, X-linked 98;not provided	de novo;germline	X	74742675	GAGGTGTCATTTCTGCCACCTGCTCGCAAACGAAAATCTAAACTTGGCAACAGGCACAGGA
778139192	214348	NM_198525.2(KIF7):c.3331C>T (p.Arg1111Ter)	KIF7	Feb 23, 2015	Gene:46,MedGen:C0796147,OMIM:200990,Orphanet:ORPHA36	Acrocallosal syndrome, Schinzel type	unknown	15	89629561	GGCTGGGTCTTGGGACAGGTGGTGACGCTCCGAGAGGAGCAGCACCAGCAGCAGATTGCCT
201541131	214454	NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys)	PDE6B	Jul 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151107,OMIM:613801	Retinitis pigmentosa;Retinitis pigmentosa 40	germline;unknown	4	662197	GGGTACCGGAGAATCACCTACCACAACTGGCGCCACGGCTTCAACGTGGCCCAGACGATGT
121908952	21727	NM_001015880.1(PAPSS2):c.1000C>T (p.Arg334Ter)	PAPSS2	Nov 06, 2014	MedGen:C2748515,OMIM:612847,Orphanet:ORPHA93282	Spondyloepimetaphyseal dysplasia, pakistani type	germline	10	87727403	GCACATGGTGGACGGAGGGTAGCTATCTTACGAGACGCTGAATTCTATGAACACAGAAAAG
564652222	180494	NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys)	ATM	Sep 08, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108325416	TTTAGTTTTCAGGAGCCTATCATGGCTCTACGCACAGTCATTTTGGAGATCCTGATGGAAA
397514695	59640	NM_014254.2(RXYLT1):c.1018C>T (p.Arg340Ter)	RXYLT1	Apr 26, 2013	MedGen:C3554381,OMIM:615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	germline	12	63808778	TGCCCGGTCGGAGTAAACACAGAATGCTATCGAATCTATGAGGCTTGCTCCTATGGCTCCA
137852401	25229	NM_000132.3(F8):c.881C>T (p.Thr294Ile)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969459	AAGTGCACTCAATATTCCTCGAAGGTCACACATTTCTTGTGAGGAACCATCGCCAGGCGTC
-1	426430	NM_001456.3(FLNA):c.3775C>T (p.Gln1259Ter)	FLNA	Jun 06, 2017	MedGen:CN517202	not provided	germline	X	154360020	GTGGAACCTGCGGTGGACACTTCCGGTGTCCAGTGCTATGGGCCTGGTATTGAGGGCCAGG
121434584	31096	NM_002103.4(GYS1):c.1384C>T (p.Arg462Ter)	GYS1	Oct 11, 2007	MedGen:C1969054,OMIM:611556,Orphanet:ORPHA137625	Glycogen storage disease 0, muscle	germline	19	48974658	TCCTCAGACCCCATCCTGACCACCATCCGCCGAATCGGCCTCTTCAATAGCAGTGCCGACA
797045139	205416	NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys)	NF1	Jul 28, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	de novo;germline;unknown	17	31327718	ATTGTCCAGTCTATCATTCATATCCGGACCCGCTGGGAACTGTCACAGCCCGACTCTATCC
756953958	181567	NM_017534.5(MYH2):c.533C>T (p.Thr178Ile)	MYH2	Jun 01, 2014	MedGen:C1854106,OMIM:605637	Inclusion body myopathy 3	germline	17	10544100	TAGACCGAGAGAATCAGTCAATCCTGATCACGTAAGTAGATTTTATGCTTTCTTTACATGG
761767572	434152	NM_174936.3(PCSK9):c.1426C>T (p.Arg476Cys)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55058570	GGGCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGATGAGGAGCTGCTGAGCT
374385878	141318	NM_004318.3(ASPH):c.2203C>T (p.Arg735Trp)	ASPH	May 01, 2014	MedGen:C1832167,OMIM:601552,Orphanet:ORPHA412022	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	germline	8	61503433	CACGAGGTATGGCAGGATGCCTCATCTTTCCGGCTGATATTCATCGTGGATGTGTGGCATC
121909567	33073	NM_000488.3(SERPINC1):c.391C>T (p.Leu131Phe)	SERPINC1	Apr 11, 1990	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173914570	ATGACCAAGCTGGGTGCCTGTAATGACACCCTCCAGCAACTGATGGAGGTACGACCAAAGG
137852404	25234	NM_000132.3(F8):c.923C>T (p.Ser308Leu)	F8	Feb 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969417	GGAACCATCGCCAGGCGTCCTTGGAAATCTCGCCAATAACTTTCCTTACTGCTCAAACACT
121434619	25952	NM_001123383.1(BCOR):c.2926C>T (p.Arg976Ter)	BCOR	Oct 01, 2009	MedGen:C1846265,OMIM:300166,Orphanet:ORPHA2712	Oculofaciocardiodental syndrome	germline	X	40072420	ATCGCCAACTCAGCGGGTTACGTGGGTGACCGATTCAAATGTGTCACTACCGAACTGTATG
794726845	187702	NM_001165963.1(SCN1A):c.5662C>T (p.Gln1888Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	165991613	GAGAGTGGAGAGATGGATGCTCTACGAATACAGATGGAAGAGCGATTCATGGCTTCCAATC
121909263	23371	NM_000388.3(CASR):c.413C>T (p.Thr138Met)	CASR	May 01, 1995	MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007	Hypocalciuric hypercalcemia, familial, type 1	germline	3	122257308	TCTGCAACTGCTCAGAGCACATTCCCTCTACGATTGCTGTGGTGGGAGCAACTGGCTCAGG
144500145	202960	NM_002693.2(POLG):c.2554C>T (p.Arg852Cys)	POLG	Aug 02, 2017	MedGen:C1850303,OMIM:258450,Orphanet:ORPHA254886;MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595;MedGen:CN517202	Cerebellar ataxia infantile with progressive external ophthalmoplegia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;not provided	germline;unknown	15	89321780	CCCCAAGTGGTGACTGCCGGCACCATCACTCGCCGGGCTGTGGAGCCCACATGGCTCACCG
766665118	430076	NM_005912.2(MC4R):c.449C>T (p.Thr150Ile)	MC4R	Oct 18, 2016	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001;MedGen:CN233047	Obesity;Obesity, autosomal dominant	germline	18	60371901	TGCTTTCAATTGCAGTGGACAGGTACTTTACTATCTTCTATGCTCTCCAGTACCATAACAT
79746977	440056	NM_024753.4(TTC21B):c.2500C>T (p.Gln834Ter)	TTC21B	Jun 01, 2017	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	maternal	2	165907746	CTGTCAGCTCTCATGGAGGATGGACGTTGTCAAGTTCTTCTAGCAAAAGTTTATAGTAAAA
121909106	22299	NM_005251.2(FOXC2):c.374C>T (p.Ser125Leu)	FOXC2	Sep 15, 2005	MedGen:C0265345,OMIM:153400,Orphanet:ORPHA33001,SNOMED CT:8634009	Distichiasis-lymphedema syndrome	germline	16	86567709	GCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCCCG
35333334	46988	NM_024312.4(GNPTAB):c.3613C>T (p.Arg1205Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576;MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	I cell disease;Pseudo-Hurler polydystrophy	not provided	12	101749181	GCTTTCTTCTCTCTGCACAGGAGGGCTTATCGAGACAAATTGAAGTTTTGGACCCATTGTG
1114167596	419658	NM_000038.5(APC):c.4549C>T (p.Gln1517Ter)	APC	Jun 01, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112840143	AGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTC
1057518273	360289	NM_002968.2(SALL1):c.1393C>T (p.Gln465Ter)	SALL1	Nov 23, 2016	MedGen:CN517202	not provided	germline	16	51140829	GCGAAGGTCTTTGGGAGTGACAGTGCCTTGCAGATCCACTTGCGTTCCCATACCGGAGAGA
104894419	22712	NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter)	LIG4	Apr 26, 2016	MedGen:C1847827,OMIM:606593,Orphanet:ORPHA99812;MedGen:CN517202	Lig4 syndrome;not provided	germline;paternal;unknown	13	108208829	TCCTGGGATTGCTCTCCTCTCAGTATGTTTCGACGCCACACCGTTTATTTGGACTCGTATG
797044883	205286	NM_019066.4(MAGEL2):c.1912C>T (p.Gln638Ter)	MAGEL2	Sep 26, 2017	MeSH:D030342,MedGen:C0950123;MedGen:C3809877,OMIM:615547,Orphanet:ORPHA398069;MedGen:CN517202	Inborn genetic diseases;Schaaf-yang syndrome;not provided	germline;unknown	15	23645831	CAGCCCCTGCCTGCCCAGGAGGCCCAGAGGCAGGCTCCCCCCTTGGTCCAGCTGGAGCAGC
121909681	31243	NM_000821.6(GGCX):c.1426C>T (p.Arg476Cys)	GGCX	Mar 01, 2007	MedGen:C1835813,OMIM:610842,Orphanet:ORPHA91135	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	germline	2	85552429	TACTTTGATATTTGGGTCTCCATCAATGACCGCTTCCAGCAGAGGTGGGCAAGGGGAGCAG
118203933	15955	NM_000067.2(CA2):c.319C>T (p.His107Tyr)	CA2	Apr 01, 1996	MedGen:C0345407,OMIM:259730,SNOMED CT:254122007	Osteopetrosis with renal tubular acidosis	germline	8	85473779	TGGGGTTCACTTGATGGACAAGGTTCAGAGCATACTGTGGATAAAAAGAAATATGCTGCAG
398124274	101518	NM_014795.3(ZEB2):c.1381C>T (p.Gln461Ter)	ZEB2	Aug 10, 2012	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144399806	CCCACCATGAATAGTAATTTAAGTGAGGTACAAAAGGTTCTACAGATTGTGGACAATACTG
730882260	181378	NM_006063.2(KLHL41):c.1238C>T (p.Ser413Leu)	KLHL41	Mar 04, 2015	MedGen:C3810384,OMIM:615731	Nemaline myopathy 9	germline	2	169514701	TTGCAGGCAAAGACCTTCAAACAGAGGCTTCGCTGGATTCAGTATTATGCTATGATCCTGT
1060501395	401990	NM_003079.4(SMARCE1):c.313C>T (p.Arg105Ter)	SMARCE1	Aug 15, 2016	MedGen:C1333989,OMIM:607174	Meningioma, familial	germline	17	40636451	GAGATTGGCAAGATTATTGGTGGCATGTGGCGAGATCTCACTGATGAAGAAAAACAAGAAT
776813259	227249	NM_005630.2(SLCO2A1):c.1807C>T (p.Arg603Ter)	SLCO2A1	Mar 18, 2016	MedGen:C3280800,OMIM:614441	Primary hypertrophic osteoarthropathy, autosomal recessive 2	germline	3	133935781	GCCTGCGCCTACTATGACAACGATGCTCTCCGAGACAGGTGAGGGCCCATCATGTATGTGT
121434426	21754	NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter)	FANCG	Jan 01, 2000	MedGen:C3469527,OMIM:614082	Fanconi anemia, complementation group G	germline	9	35076442	ACCAAGCACATACTAGCAAGCAGGTGCCTACAGACGGGGAGGTGAGGTTCCCCTTGCTCAC
119456966	17666	NM_001037633.1(SIL1):c.1312C>T (p.Gln438Ter)	SIL1	Nov 21, 2012	MedGen:C0024814,OMIM:248800,Orphanet:ORPHA559,SNOMED CT:80734006;MedGen:CN517202	Marinesco-Sjögren syndrome;not provided	germline	5	138947191	GAGTACCAGGTGCTGGCCAGCCTGGAGCTGCAGGATGGTGAGGACGAGGGCTACTTCCAGG
104893753	20124	NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter)	OPA1	Aug 08, 2012	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009	Dominant hereditary optic atrophy	germline	3	193643005	CTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTGAAAGAAGGCTGTA
74315499	18331	NM_000268.3(NF2):c.1021C>T (p.Arg341Ter)	NF2	Jun 19, 2017	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002;MedGen:CN517202	Neurofibromatosis, type 2;not provided	germline	22	29671847	CCCTCGCAGATGGAGCGGCAGCGCCTCGCTCGAGAGAAGCAGATGAGGGAGGAGGCTGAAC
104893851	18199	NM_172250.2(MMAA):c.433C>T (p.Arg145Ter)	MMAA	Jun 21, 2017	Human Phenotype Ontology:HP:0002912,MedGen:C0268583,SNOMED CT:42393006;MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310;MedGen:CN517202	Methylmalonic acidemia;Methylmalonic aciduria cblA type;not provided	germline;unknown	4	145639572	CAATCAAATAAAGGAAAACCACTAGCATTTCGAGTAGGTCAGTCTTTTTTGTGTGTTTTCT
794727636	194378	NM_003494.3(DYSF):c.265C>T (p.Arg89Ter)	DYSF	Mar 17, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71503242	AGGTTCCTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCCTAGTCTGTCCG
878853172	237574	NM_001168272.1(ITPR1):c.2137C>T (p.Arg713Ter)	ITPR1	Jul 20, 2016	MedGen:C0431401,OMIM:206700,Orphanet:ORPHA1065,SNOMED CT:253176002	Gillespie syndrome	germline	3	4670904	CAGGATGCTAAAGAAGGGCAGAAGGAGGACCGAGACGTTCTCAGCTACTACAGGTGCGTGG
397514492	45892	NM_005340.6(HINT1):c.184C>T (p.Gln62Ter)	HINT1	Oct 01, 2012	MedGen:CN074193,OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	germline	5	131162604	TTTCTGGTGATACCCAAGAAACATATATCCCAGATTTCTGTGGCAGAAGATGATGATGAAA
370444838	439710	NM_005956.3(MTHFD1):c.146C>T (p.Ser49Phe)	MTHFD1	Nov 21, 2017	na	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA	germline	14	64411109	TATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGC
796052465	202827	NM_005249.4(FOXG1):c.667C>T (p.Gln223Ter)	FOXG1	Jun 24, 2016	MedGen:CN517202	not provided	germline	14	28767946	AAGAACTTCCCTTACTACCGCGAGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATC
1060503433	402157	NM_213607.2(CCDC103):c.115C>T (p.Gln39Ter)	CCDC103	Aug 16, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	44901113	GAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGT
1064796511	409476	NM_000548.4(TSC2):c.328C>T (p.Gln110Ter)	TSC2	Oct 06, 2017	MedGen:CN517202	not provided	germline	16	2053444	GCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGG
786205698	188221	NM_001288953.1(TTC7A):c.1474C>T (p.Gln492Ter)	TTC7A	Apr 01, 2014	MedGen:C0220744,OMIM:243150,Orphanet:ORPHA436252,SNOMED CT:95472001	Multiple gastrointestinal atresias	germline	2	47024294	TGTCACTCCCTCTCCCCACACAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCC
1135402884	425173	NM_001042492.2(NF1):c.6211C>T (p.Gln2071Ter)	NF1	Feb 02, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31336698	ACATGCTTATCTCCAACTCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTT
886044708	275509	NM_002968.2(SALL1):c.727C>T (p.Gln243Ter)	SALL1	Sep 22, 2016	MedGen:CN034849,OMIM:107480	Townes-Brocks syndrome 1	germline	16	51141495	CTCCTAGCTCTGCAGCAGCAGCAGATCCACCAGCTGCAATTGATCGAACAGATTCGTCACC
-1	263819	NM_053025.3(MYLK):c.4372C>T (p.Gln1458Ter)	MYLK	Nov 03, 2016	MedGen:C3151077,OMIM:613780	Aortic aneurysm, familial thoracic 7	paternal	3	123649014	GATTACCGGACAGTGACAATCAATACTGAACAAAAAGTATCTGACTTCTACGACATTGAGG
749951964	373252	NM_014319.4(LEMD3):c.1873C>T (p.Arg625Ter)	LEMD3	Jan 06, 2017	MedGen:CN517202	not provided	germline	12	65238766	AGACCACTGATGTCTTTTTGGTGTCGTTTTCGACGTGCTTTTGTTACTGTAACTCACAGAT
397516353	52558	NM_000363.4(TNNI3):c.470C>T (p.Ala157Val)	TNNI3	Nov 08, 2017	MedGen:C1860752,OMIM:613690;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 7;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	19	55154109	TGAGGATCTCTGCAGATGCCATGATGCAGGCGCTGCTGGGGGCCCGGGCTAAGGAGTCCCT
119472028	19103	NM_014080.4(DUOX2):c.2524C>T (p.Arg842Ter)	DUOX2	Oct 01, 2005	MedGen:C1846632,OMIM:607200	Thyroid dyshormonogenesis 6	germline	15	45104176	GACAAGGATGGCAATGGCTACCTGTCCTTCCGAGAGTTCCTGGACATCCTGGTGGTCTTCA
786205162	187943	NM_173354.4(SIK1):c.1897C>T (p.Gln633Ter)	SIK1	Apr 02, 2015	MedGen:C4225360,OMIM:616341	Epileptic encephalopathy, early infantile, 30	germline	21	43417622	GGCGGCCTGAGCCCCTTCCACGCCCCTGCACAGAGCCCAGGCCTGCACGGCGGCGCAGCCG
796052641	203766	NM_172107.3(KCNQ2):c.1004C>T (p.Pro335Leu)	KCNQ2	Mar 31, 2017	MedGen:CN517202	not provided	germline	20	63438644	GGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGG
104893944	17436	NM_000045.3(ARG1):c.61C>T (p.Arg21Ter)	ARG1	Apr 07, 2017	MedGen:C0268548,OMIM:207800,Orphanet:ORPHA90,SNOMED CT:23501004;MedGen:CN517202	Arginase deficiency;not provided	germline	6	131576666	GAAGTACTTTATTTTTTAATTGTTCAGCCACGAGGAGGGGTGGAAGAAGGCCCTACAGTAT
121434352	17039	NM_199242.2(UNC13D):c.766C>T (p.Arg256Ter)	UNC13D	Nov 14, 2003	MedGen:C1837174,OMIM:608898	Hemophagocytic lymphohistiocytosis, familial, 3	germline	17	75840317	GGCATCCCCGCCTGTCAGGACCTGCGCTGCCGAGAGGACCAGTGGTACCCCCTGGAACCCC
772801089	429066	NM_000124.3(ERCC6):c.2923C>T (p.Arg975Ter)	ERCC6	Aug 08, 2016	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322	Cockayne syndrome B	germline	10	49472377	GCGGGCACCATTGAAGAAAAGATCTACCACCGGTCAGTGCACACAGTGGCCACTCTTGGCT
372615994	59492	NM_002290.4(LAMA4):c.3217C>T (p.Arg1073Ter)	LAMA4	Jul 31, 2007	MedGen:C3808935,OMIM:615235	Dilated cardiomyopathy 1JJ	germline	6	112139164	GGTCAGGTGACTCGCTTTGACATAGAAGTTCGAACACCAGCTGACAACGGCCTTATTCTCC
886037732	248885	NM_177438.2(DICER1):c.745C>T (p.G249*)	DICER1	Nov 11, 2014	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	somatic	14	95126738	TTTTGTTTCTTATGTTAAAGGTATACTTCTCAGCCATGTGAGATTGTGGTGGATTGTGGAC
200596762	200123	NM_000255.3(MUT):c.682C>T (p.Arg228Ter)	MUT	Jun 22, 2017	MedGen:CN517202	not provided	germline	6	49457762	CAAAATGATATACTAAAGGAATTTATGGTTCGAAATACATACATTTTTCCTCCAGAACCAT
55770810	70063	NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp)	BRCA1	Mar 07, 2018	MedGen:CN221560;MedGen:C2676676,OMIM:604370;MedGen:CN850168,OMIM:617883;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C3469521,OMIM:227650;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1140680,Orphanet:ORPHA213500;MedGen:CN517202	Breast and colorectal cancer;Breast-ovarian cancer, familial 1;FANCONI ANEMIA, COMPLEMENTATION GROUP S;Familial cancer of breast;Fanconi anemia, complementation group A;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Ovarian cancer;not provided	germline;paternal	17	43063931	CATTCTGCAGATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGG
122461162	26516	NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter)	SLC9A6	Oct 01, 2014	MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278	Christianson syndrome	germline	X	136024365	CGTGGTGCAATGGCATTTGCCTTGGCCATTCGAGATACTGCCACTTATGCACGGCAAATGA
63751302	95693	NM_000249.3(MLH1):c.445C>T (p.Gln149Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37007055	CCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAG
267606579	49632	NM_003977.3(AIP):c.811C>T (p.Arg271Trp)	AIP	Jun 21, 2012	MedGen:C0346302,OMIM:102200,Orphanet:ORPHA96256,SNOMED CT:254957009	Somatotroph adenoma	not provided	11	67490811	CCTGCAGACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCACGCGGCCGTGTGGAATG
886041525	264373	NM_004820.4(CYP7B1):c.793C>T (p.Gln265Ter)	CYP7B1	Feb 01, 2016	MedGen:CN517202	not provided	germline	8	64615748	GCCAAGATGCAAGGATGGTCAGAAGTTTTTCAAAGCAGGCAAGATGTCCTGGAGAAATATT
78347057	47634	NM_024312.4(GNPTAB):c.136C>T (p.Arg46Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101796744	TCTTTGTTCTAGGTGGTTCTGGAATGGAGCCGAGATCAATACCATGTTTTGTTTGATTCCT
-1	462720	NM_000059.3(BRCA2):c.2677C>T (p.Gln893Ter)	BRCA2	Feb 27, 2017	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	13	32337032	TTCTCAGACAATGAGAATAATTTTGTCTTCCAAGTAGCTAATGAAAGGAATAATCTTGCTT
878853242	237626	NM_000307.4(POU3F4):c.235C>T (p.Gln79Ter)	POU3F4	Feb 19, 2016	MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383	Deafness, X-linked 2	germline	X	83508559	TCCACACTGGCCACCAGCCCCCTGGACCAGCAGGACGTGAAGCCCGGGCGCGAAGACCTGC
72555359	15963	NM_000404.3(GLB1):c.1369C>T (p.Arg457Ter)	GLB1	Sep 01, 1991	MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007	Infantile GM1 gangliosidosis	germline	3	33016819	ACCCCACAGATCCCCCAGGGAGTCCTTGAGCGAAACAATGTGATCACTCTGAACATAACAG
397514700	65568	NM_032208.2(ANTXR1):c.505C>T (p.Arg169Ter)	ANTXR1	May 02, 2013	MedGen:C0406723,OMIM:230740,Orphanet:ORPHA2067,SNOMED CT:239028001	Odontotrichomelic syndrome	germline	2	69075602	TTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTG
371525247	214324	NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter)	CEP290	Feb 23, 2015	MedGen:C1857780,OMIM:610188	Joubert syndrome 5	unknown	12	88071373	GGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAG
863224069	210585	NM_014874.3(MFN2):c.314C>T (p.Thr105Met)	MFN2	Apr 24, 2017	MedGen:CN043576;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;not provided	germline	1	11996158	TTTGCTGACAGCTGTTACTTCCTTCTAGGACGAGCAATGGGAAGAGCACCGTGATCAATGC
142637231	263940	NM_005518.3(HMGCS2):c.862C>T (p.Arg288Ter)	HMGCS2	Apr 04, 2016	MedGen:CN517202	not provided	germline	1	119757427	TTCACGCTTCCTCTTCCAGCTGGCAGCGATCGACCCTTCACCCTTGACGATTTACAGTACA
863223788	210203	NM_000192.3(TBX5):c.835C>T (p.Arg279Ter)	TBX5	Jun 01, 2017	MedGen:C3542024,OMIM:614823;MedGen:CN517202	Aortic valve disease 2;not provided	germline	12	114366312	TCCAACCACAGTCCTTTCAGCAGCGAGTCTCGAGCTCTCTCCACCTCATCCAATTTGGGGT
886039562	259774	NM_000094.3(COL7A1):c.58C>T (p.Arg20Ter)	COL7A1	Aug 16, 2016	MedGen:CN517202	not provided	germline	3	48595102	CTCTGCGCCGGGATCCTGGCAGAGGCGCCCCGAGTGCGAGCCCAGCACAGGGAGAGAGGTG
886041129	265111	NM_000044.4(AR):c.220C>T (p.Gln74Ter)	AR	Oct 14, 2016	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:CN517202	Androgen resistance syndrome;not provided	germline	X	67545366	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCC
876658325	232995	NM_000038.5(APC):c.481C>T (p.Gln161Ter)	APC	May 22, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112775687	GAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATA
80338882	34214	NM_003227.3(TFR2):c.1186C>T (p.Arg396Ter)	TFR2	Jun 09, 2011	MedGen:C1858664,OMIM:604250,Orphanet:ORPHA225123	Hemochromatosis type 3	not provided	7	100630973	GGCTCCCCTTATCACCTGGGCCCCGGGCCACGACTGCGGCTAGTGGTCAACAATCACAGGA
794729286	199018	NM_001256850.1(TTN):c.70327C>T (p.Arg23443Ter)	TTN	Mar 27, 2013	MedGen:CN517202	not provided	germline	2	178570882	GATCACAGATATGAGTTCCGGGTTATAGCCCGAAATGCCGCAGGAGTGTTTAGTGAGCCTT
771610752	444773	NM_199292.2(TH):c.457C>T (p.Arg153Ter)	TH	Jun 26, 2017	MedGen:CN517202	not provided	germline	11	2168614	CATCTAGAGACCCGGCCCGCCCAGAGGCCGCGAGCTGGGGGCCCCCACCTGGAGTACTTCG
-1	474571	NM_000535.6(PMS2):c.1606C>T (p.Gln536Ter)	PMS2	Oct 17, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	5987159	GACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTT
121909391	16348	NM_001174089.1(SLC4A11):c.2557C>T (p.Arg853Cys)	SLC4A11	Mar 01, 2008	MedGen:C0544008	Corneal endothelial dystrophy	germline	20	3228260	CCCCTCATCATGATCGCCATGATCCCCATCCGGTACAGGCGGGTGGGCAGTGGGCAGGAGG
1057520339	368565	NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter)	NSD1	Dec 22, 2016	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002;MedGen:CN517202	Beckwith-Wiedemann syndrome;not provided	germline	5	177210761	TTACATTCGAAAAGCAAACAGCCCAAGTTCCGAAGTATAAAGTGCAAACACAAAGAAAATC
104894132	16034	NM_000380.3(XPA):c.682C>T (p.Arg228Ter)	XPA	Sep 26, 2016	MedGen:C0268135,OMIM:278700	Xeroderma pigmentosum, type 1	germline	9	97675579	GACTTTAAAATTTTTTTTTCAGAATTGCGGCGAGCAGTAAGAAGCAGCGTGTGGAAAAGGG
1057519502	362231	NM_000138.4(FBN1):c.2563C>T (p.Gln855Ter)	FBN1	Jul 05, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	de novo	15	48495237	TCTGCAGAAACCATCAAGGGCACTTGCTGGCAGACTGTCATTGATGGGCGATGTGAGATCA
137852261	25654	NM_000133.3(F9):c.1150C>T (p.Arg384Ter)	F9	Jul 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561835	GTTCCACTTGTTGACCGAGCCACATGTCTTCGATCTACAAAGTTCACCATCTATAACAACA
1064793742	411311	NM_004006.2(DMD):c.10651C>T (p.Gln3551Ter)	DMD	Jun 10, 2015	MedGen:CN517202	not provided	germline	X	31147421	TCCCCTCCTGAAATGATGCCCACCTCTCCCCAGAGTCCCCGGGATGCTGAGCTCATTGCTG
777758903	216039	NM_000255.3(MUT):c.2080C>T (p.Arg694Trp)	MUT	Mar 19, 2017	Human Phenotype Ontology:HP:0002912,MedGen:C0268583,SNOMED CT:42393006;MedGen:C1855114,OMIM:251000	Methylmalonic acidemia;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49435500	GAACTCATCAAAGAACTTAACTCCCTTGGACGGCCAGATATTCTTGTCATGTGTGGAGGGG
546603773	362590	NM_033068.2(ACP4):c.428C>T (p.Thr143Met)	ACP4	Oct 28, 2016	MedGen:C4310630,OMIM:617297	Amelogenesis imperfecta, type IJ	germline	19	50791780	AGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGG
750614500	203845	NM_000026.3(ADSL):c.568C>T (p.Arg190Ter)	ADSL	Jan 10, 2015	MedGen:CN517202	not provided	germline	22	40358949	TGCATGGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGTAAAGG
796052676	202181	NM_004519.3(KCNQ3):c.688C>T (p.Arg230Cys)	KCNQ3	Jun 08, 2017	MedGen:C1852581,OMIM:121201;MedGen:CN517202	Benign familial neonatal seizures 2;not provided	de novo;germline;unknown	8	132180246	AATGTTCTGGCCACCTCCCTGCGAAGCCTGCGCTTCCTGCAGATCCTGCGCATGCTGCGGA
185741664	200047	NM_020166.4(MCCC1):c.841C>T (p.Arg281Ter)	MCCC1	Nov 28, 2016	MedGen:CN028786,OMIM:210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	germline	3	183057343	TTGTTTGAAAGAGACTGTAGTGTGCAGAGGCGACATCAGAAGATCATTGAGGAGGCCCCAG
111033627	25944	NM_002351.4(SH2D1A):c.203C>T (p.Thr68Ile)	SH2D1A	Oct 01, 1998	MedGen:C1868674,OMIM:308240	Lymphoproliferative syndrome 1, X-linked	germline	X	124370177	AATAATTTGCTTGGCCTTTTATTTTCCAGACAGCACCTGGGGTACATAAAAGATATTTCCG
59151464	77545	NM_006121.3(KRT1):c.559C>T (p.Leu187Phe)	KRT1	Mar 10, 2016	MedGen:CN517202	not provided	germline	12	52679790	AAGTCTCGAGAAAGGGAGCAAATCAAGTCACTCAACAACCAATTTGCCTCCTTCATTGACA
121908563	20928	NM_006502.2(POLH):c.376C>T (p.Gln126Ter)	POLH	Jul 09, 1999	MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342	Xeroderma pigmentosum, variant type	germline	6	43587375	GAGGCTTACGTAGATCTGACCAGTGCTGTACAAGAGAGACTACAAAAGCTACAAGGTCAGC
786204845	187229	NM_014822.3(SEC24D):c.613C>T (p.Gln205Ter)	SEC24D	Mar 05, 2015	MedGen:C4225382,OMIM:616294	Cole-Carpenter syndrome 2	germline	4	118815511	GGGCTCTCTGGGCCTCCTCCTCCAAATGCCCAGTACCAGCCCCCACCTCTTCCAGGCCAGA
121908374	20176	NM_020533.2(MCOLN1):c.1207C>T (p.Arg403Cys)	MCOLN1	Jul 30, 2015	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001	Mucolipidosis type IV	germline	19	7529173	TCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATG
199422260	47898	NR_001566.1(TERC):n.35C>T	TERC	May 10, 2012	MedGen:C1851970,OMIM:127550	Dyskeratosis congenita autosomal dominant	not provided	3	169765026	TGCGGAGGGTGGGCCTGGGAGGGGTGGTGGCCATTTTTTGTCTAACCCTAACTGAGAAGGG
63750302	96033	NM_000251.2(MSH2):c.1183C>T (p.Gln395Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47429848	CCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTT
267608647	153522	NM_003159.2(CDKL5):c.1954C>T (p.Gln652Ter)	CDKL5	Feb 08, 2013	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	germline;unknown	X	18608820	CCTTTTAAATTTTACTTCCAGCCTGGAGAACAGCTCCCTCCAGAGATGACTGTGGCAAGAT
78464826	408421	NM_032193.3(RNASEH2C):c.451C>T (p.Pro151Ser)	RNASEH2C	Jul 31, 2015	MedGen:CN517202	not provided	germline	11	65720062	GATGCCAAAGTGCGTGGGGCCTTAACTTGGCCCAGCCTTGCGGCAGCGGTGAGTAGACGAG
138130157	20323	NM_017431.2(PRKAG3):c.673C>T (p.Arg225Trp)	PRKAG3	Sep 19, 2007	MedGen:C3887972	Glycogen content in skeletal muscle, increased	germline	2	218828561	GCCTTCTTTGCTCTGGTGGCCAACGGTGTGCGGGCAGCCCCTCTATGGGACAGCAAGAAGC
1085307125	413893	NM_030916.2(NECTIN4):c.181C>T (p.Gln61Ter)	NECTIN4	Jan 24, 2018	MedGen:C3150807,OMIM:613573,Orphanet:ORPHA247820	Ectodermal dysplasia-syndactyly syndrome 1	germline	1	161079848	CCCTGCTTCTACCGAGGGGACTCCGGCGAGCAAGTGGGGCAAGTGGCATGGGCTCGGGTGG
111033201	52339	NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter)	MYO7A	Nov 06, 2017	MedGen:C1838701,OMIM:600060;MeSH:D052245,MedGen:C0271097,Orphanet:ORPHA886;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:CN517202	Deafness, autosomal recessive 2;Usher syndrome;Usher syndrome, type 1;not provided	germline;unknown	11	77174825	TCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCG
121907985	18923	NM_000521.3(HEXB):c.1510C>T (p.Pro504Ser)	HEXB	Aug 14, 1998	MedGen:CN068767	Sandhoff disease, chronic	germline	5	74720644	TGCGGGGGGATGTGTGATTTAAATTTTAGGCCTCGGGCAAGTGCTGTTGGTGAGAGACTCT
587780584	139911	NM_130838.1(UBE3A):c.1373C>T (p.Pro458Leu)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	de novo	15	25370741	CAGAGAACAAATTCTCTTTTATGACATGTCCCTTTATATTGAATGCTGTCACAAAGAATTT
-1	482078	NM_001145358.1(SIN3A):c.1675C>T (p.Arg559Ter)	SIN3A	Dec 27, 2017	MedGen:CN517202	not provided	germline	15	75400792	GCTTCTTGTAAACGATTGGGCTCCAGCTATCGAGCCTTACCAAAGAGTTACCAGCAGCCCA
750349088	260239	NM_000219.5(KCNE1):c.262C>T (p.Gln88Ter)	KCNE1	Jun 12, 2015	MedGen:CN517202	not provided	germline	21	34449373	TTCAACGTCTACATCGAGTCCGATGCCTGGCAAGAGAAGGACAAGGCCTATGTCCAGGCCC
398123702	100041	NM_003482.3(KMT2D):c.10834C>T (p.Gln3612Ter)	KMT2D	Aug 06, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49033871	CAACAGCAGCAGCAGCAGCAACAACAGCAACAGCACTCAGCTGTGCTGGCTCTCAGCCCTT
781036625	420285	NM_001080397.2(SLC45A1):c.628C>T (p.Arg210Trp)	SLC45A1	Jun 26, 2017	MedGen:CN277733,OMIM:617532	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES	germline	1	8325853	CTGCTGGGCCTCTCGCTCTTGCTGAATGGCCGGGACATTGGCATCGCCCTGGCTGACGTGA
80338881	34231	NM_003227.3(TFR2):c.949C>T (p.Gln317Ter)	TFR2	Jun 09, 2011	MedGen:C1858664,OMIM:604250,Orphanet:ORPHA225123	Hemochromatosis type 3	not provided	7	100632099	GACCCACCCAAGCCAAGCCTGTCCAGCCAGCAGGCAGTGTATGGACATGTGAGTCTGGGGA
773157352	264818	NM_021728.3(OTX2):c.226C>T (p.Arg76Ter)	OTX2	Apr 12, 2016	MedGen:CN517202	not provided	germline	14	56804235	GCCAAGACCCGGTACCCAGACATCTTCATGCGAGAGGAGGTGGCACTGAAAATCAACTTGC
72555393	15974	NM_000404.3(GLB1):c.245C>T (p.Thr82Met)	GLB1	Mar 12, 2013	MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007	Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis	germline	3	33072544	TGAAGATGGCTGGGCTGAACGCCATCCAGACGTAAGTAGGAGGGCATGTGGCTCTCACCTA
104894111	22027	NM_004473.3(FOXE1):c.304C>T (p.Arg102Cys)	FOXE1	Mar 01, 2011	MedGen:C1968699	Hypothyroidism, thyroidal, with spiky hair and cleft palate	germline	9	97854218	GACAACCCCAAAAAGTGGCAGAACAGCATCCGCCACAACCTCACACTCAACGACTGCTTCC
886044411	274521	NM_001130987.1(DYSF):c.4462C>T (p.Gln1488Ter)	DYSF	Aug 11, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71613408	ATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCT
72648250	225057	NM_001256850.1(TTN):c.88243C>T (p.Arg29415Ter)	TTN	Jan 23, 2018	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	2	178548460	GCCCGAATCCATCATTATGTGGTAGAGAAACGAGAGGCAAGTCGCCGTAGTTGGCAGGTTA
121917713	28865	NM_000168.5(GLI3):c.868C>T (p.Arg290Ter)	GLI3	Jul 03, 2016	MedGen:C0265306,OMIM:175700,SNOMED CT:32985001;MedGen:C0265306,OMIM:175700,SNOMED CT:32985001;MedGen:C0265220,OMIM:146510,Orphanet:ORPHA672,SNOMED CT:56677004;MedGen:C1868111,OMIM:174700,Orphanet:ORPHA93338	Greig cephalopolysyndactyly syndrome;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Preaxial polydactyly 4	germline	7	42040198	TCCAGCCCCAGGCTGTCAGCCAGGCCGAGCCGAAAACGTACACTGTCCATATCACCACTCT
587782069	151579	NM_144997.6(FLCN):c.499C>T (p.Gln167Ter)	FLCN	Feb 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas;not provided	germline	17	17224041	TTCATCAAGGACAGCCTGGCCAGGGGCTTCCAGCGCTGGTACAGCATCATCACCATCATGA
387906502	26721	NM_000307.4(POU3F4):c.935C>T (p.Ala312Val)	POU3F4	Aug 01, 1995	MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383	Deafness, X-linked 2	germline	X	83509259	AGCCTGCCGCGCAGGAGATCTCCTCGCTGGCAGACAGCCTCCAGTTGGAGAAGGAAGTGGT
121913081	31545	NM_000043.5(FAS):c.809C>T (p.Thr270Ile)	FAS	Feb 01, 1999	MedGen:C1866119	Autoimmune lymphoproliferative syndrome, type 1a	germline	10	89014251	ATGAGATCAAGAATGACAATGTCCAAGACACAGCAGAACAGAAAGTTCAACTGCTTCGTAA
137852288	25570	NM_000292.2(PHKA2):c.3614C>T (p.Pro1205Leu)	PHKA2	Feb 01, 1995	MedGen:C0017927,OMIM:306000	Glycogen storage disease type IXa1	germline	X	18893579	GAATCTGCCACTTCTTTTATGACAGCGCTCCGAGTGGGGCTTATGGGACGATGACCTACCT
121908432	20612	NM_014112.4(TRPS1):c.2557C>T (p.Arg853Ter)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Trichorhinophalangeal dysplasia type I	germline	8	115587144	AGTCCCAATGTGGAGGCCGCCCATCTGGCGCGACCTATTTATGGCTTGGCTGTGGAAACCA
376993881	407916	NM_000429.2(MAT1A):c.895C>T (p.Arg299Cys)	MAT1A	Jun 03, 2016	MedGen:CN517202	not provided	germline	10	80275073	AAGGTAGACCGCTCAGCTGCATATGCTGCCCGCTGGGTGGCCAAGTCTCTGGTGAAAGCAG
886039337	260316	NM_000397.3(CYBB):c.868C>T (p.Arg290Ter)	CYBB	Oct 31, 2016	MedGen:CN517202	not provided	germline	X	37801319	TATCTCTGTGAGAGGTTGGTGCGGTTTTGGCGATCTCAACAGAAGGTGGTCATCACCAAGG
80358515	65966	NM_000059.3(BRCA2):c.250C>T (p.Gln84Ter)	BRCA2	Aug 03, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;somatic	13	32319259	CTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTC
387906698	38878	NM_002769.4(PRSS1):c.346C>T (p.Arg116Cys)	PRSS1	Mar 01, 2012	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	7	142751919	AATGACATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCA
587781236	165793	NM_130838.1(UBE3A):c.1967C>T (p.Thr656Ile)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	de novo	15	25355989	AAGGGAATGTGGAAGATGACATGATGATCACTTTCCAGATATCACAGACAGATCTTTTTGG
121908729	17019	NM_000022.3(ADA):c.698C>T (p.Thr233Ile)	ADA	Jul 01, 1997	MedGen:C1863239;MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Partial adenosine deaminase deficiency;Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44622911	CTTCTCTACAGGCTGTGGACATACTCAAGACAGAGCGGCTGGGACACGGCTACCACACCCT
397517983	57570	NM_206933.2(USH2A):c.12868C>T (p.Gln4290Ter)	USH2A	Dec 23, 2011	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215675043	AAACTGCTGATTTCCTGGATCCCACCAGAACAGTCTAATGGTATTATCCAGTCCTATAGGC
587779409	106597	NM_001909.4(CTSD):c.470C>T (p.Ser157Leu)	CTSD	-	MedGen:C1864669,OMIM:610127,Orphanet:ORPHA228337	Ceroid lipofuscinosis neuronal 10	inherited	11	1758970	TCTCCGGGTACCTGAGCCAGGACACTGTGTCGGTGAGTCCCTCTGGGGCCTTTCCCAGGAC
369176613	150302	NM_000406.2(GNRHR):c.806C>T (p.Thr269Met)	GNRHR	Jul 08, 2015	Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004;Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004	Hypogonadotropic hypogonadism 7 with or without anosmia;Hypogonadotropic hypogonadism 7 with or without anosmia	germline;inherited	4	67740661	CAAGAGCACGGCTGAAGACTCTAAAAATGACGGTTGCATTTGCCACTTCATTTACTGTCTG
151340626	26841	NM_000084.4(CLCN5):c.731C>T (p.Ser244Leu)	CLCN5	Oct 15, 2015	MedGen:C1848336,OMIM:300009;MedGen:C1845168,OMIM:300554;MedGen:CN517202	Dent disease 1;Hypophosphatemic rickets, X-linked recessive;not provided	germline	X	50085987	TAATTCTGAGTTTTGGATTTTAGGTCTTGTCGGCTGCAGCAGCAGCTGGTGTATCTGTAGC
148434485	357085	NM_005373.2(MPL):c.127C>T (p.Arg43Ter)	MPL	Oct 31, 2016	MedGen:C1327915,OMIM:604498,Orphanet:ORPHA3319	Congenital amegakaryocytic thrombocytopenia	unknown	1	43338146	TCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGG
879254996	246293	NM_000527.4(LDLR):c.1706-1G>A	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116858	GTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTG
121434291	18581	NM_130849.3(SLC39A4):c.989G>A (p.Gly330Asp)	SLC39A4	Jul 01, 2002	MedGen:C0221036,OMIM:201100,Orphanet:ORPHA37,SNOMED CT:37702000	Hereditary acrodermatitis enteropathica	germline	8	144414422	CGCCTCACCCGCCCCCAGGGTATCTGTACGGCTCCCTGGCCACGCTGCTCATCTGCCTCTG
397507762	66454	NM_000059.3(BRCA2):c.516+1G>A	BRCA2	May 09, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32326283	AGTTTGTTTCATACACCAAAGTTTGTGAAGGTAAATATTCTACCTGGTTTATTTTTATGAC
111033754	36581	NM_000155.3(GALT):c.692G>A (p.Arg231His)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648766	ACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGT
121918742	79529	NM_006920.4(SCN1A):c.4724G>A (p.Gly1575Glu)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo;germline	2	165994241	TCAATCTGGTGTTCATTGTGCTATTTACTGGAGAGTGTGTACTGAAACTCATCTCTCTACG
267607039	16073	NM_015559.2(SETBP1):c.2609G>A (p.Gly870Asp)	SETBP1	Jun 01, 2010	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	Schinzel-Giedion syndrome	germline	18	44951949	ACAGTGAGGAGACGATCCCCAGCGACAGCGGCATTGGGACAGACAACAACAGCACTTCTGA
797044925	205260	NM_007327.3(GRIN1):c.2443G>A (p.Gly815Arg)	GRIN1	Dec 27, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	9	137163668	CCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGG
-1	427722	NM_001100.3(ACTA1):c.809G>A (p.Gly270Asp)	ACTA1	Aug 24, 2015	MedGen:CN187050	Nemaline myopathy 3, autosomal dominant or recessive	germline	1	229431902	TCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTATGGAGTCGGCGGGCATTCACGAGACCAC
72556272	103110	NM_000531.5(OTC):c.485G>A (p.Gly162Glu)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401373	CTAAAGAAGCATCCATCCCAATTATCAATGGGCTGTCAGATTTGTACCATCCTATCCAGAT
45501492	59237	NM_000548.4(TSC2):c.3397+5G>A	TSC2	Jan 16, 2015	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2079674	CCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCAC
80338788	20951	NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	SCN4A	Apr 28, 2009	MedGen:CN074266,OMIM:170500;MedGen:C3714580,OMIM:170400;MedGen:C2750061,OMIM:613345	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	germline	17	63959269	TACAGGGACTGTCTGTGCTACGCTCCTTCCGTCTGGTACACAAAAGCCCCAGGGCCAGGGG
1060503016	404323	NM_003073.4(SMARCB1):c.152G>A (p.Trp51Ter)	SMARCB1	Nov 02, 2016	MedGen:C1836327,OMIM:609322;MedGen:C1335929,Orphanet:ORPHA93921,SNOMED CT:142071000119101	Rhabdoid tumor predisposition syndrome 1;Schwannomatosis	germline	22	23791814	GTTCTCTGTACAAGAGATACCCCTCACTCTGGAGGCGACTAGCCACTGTGGAAGAGAGGAA
104886429	35625	NM_000495.4(COL4A5):c.546+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108573655	CCAGGATATCCAGGTCCTCCTGGAATACAAGTAAGTATCCAGTGATTTTCTTTTTTTGCTA
587783984	168455	NM_133433.3(NIPBL):c.5808+1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37026328	ACAAGGAAAATTTTAAACATTACCGATGTGGTAAGAAGGACTGGAACAAGGGTGTGGTCAC
587777793	166221	NM_006218.3(PIK3CA):c.1066G>A (p.Val356Ile)	PIK3CA	Jan 10, 2013	MedGen:C3554518,OMIM:615108	Cowden syndrome 5	germline	3	179204509	TATATACCTACTTTTTTCTTTTAGATCTATGTTCGAACAGGTATCTACCATGGAGGAGAAC
104894532	22759	NM_000303.2(PMM2):c.26G>A (p.Cys9Tyr)	PMM2	Aug 27, 2014	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002	Carbohydrate-deficient glycoprotein syndrome type I	germline;unknown	16	8797908	GGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGC
587779695	107202	NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999479	TTATTTCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTA
748442113	428464	NM_002538.3(OCLN):c.1037+1G>A	OCLN	Jan 31, 2017	MedGen:C3489725,OMIM:251290	Band-like calcification with simplified gyration and polymicrogyria	germline	5	69534840	TTATCCAGAGTCTTCCTATAAATCCACGCCGTAAGTAGCATCTCTCTTAGTTTGATAGACT
35324967	30107	NM_000519.3(HBD):c.*199G>A	HBD	Jan 15, 1992	MedGen:C0271990,SNOMED CT:16427007	delta Thalassemia	germline	11	5232765	TGTAAGAAGGTTCCTGAGGCTCTACAGATAGGGAGCACTTGTTTATTTTACAAAGAGTACA
193922503	44492	NM_000492.3(CFTR):c.1585-8G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117587731	CTAAAAGTGACTCTCTAATTTTCTATTTTTGGTAATAGGACATCTCCAAGTTTGCAGAGAA
886041357	264996	NM_000444.5(PHEX):c.1158G>A (p.Trp386Ter)	PHEX	Sep 27, 2016	MedGen:CN517202	not provided	germline	X	22111545	AAACCTTAGCAGGCGCTTTCAGTATAGATGGCTGGAATTCTCAAGGGTAAGTTTAAGAAGA
779218846	236884	NM_018946.3(NANS):c.448+1G>A	NANS	Jun 20, 2017	MedGen:C1864872,OMIM:610442,Orphanet:ORPHA168454	Spondyloepimetaphyseal dysplasia Genevieve type	germline	9	98077018	TTCCTTATCTGGAAAAGACAGCCAAAAAAGGTAAGTGTCTAATTTTTGACTTAAAATCGAA
-1	481853	NM_024757.4(EHMT1):c.3259-1G>A	EHMT1	Jan 09, 2018	MedGen:CN517202	not provided	germline	9	137815946	TGCTGGGCCCTTGCTGCTCATCTGTCCACAGGATGGCCGGCTCCTGCCAGAGTTCAACATG
75037667	131934	NM_006397.2(RNASEH2A):c.872G>A (p.Arg291His)	RNASEH2A	Mar 13, 2014	MedGen:C1835912,OMIM:610333	Aicardi Goutieres syndrome 4	germline	19	12813438	CCCGTTCTTCCCACCGATATTTCCTGGAACGCGGCCTGGAGTCAGCAACCAGCCTCTAGCA
794728710	196518	NM_001035.2(RYR2):c.689G>A (p.Gly230Asp)	RYR2	Oct 11, 2013	MedGen:CN517202	not provided	germline	1	237388099	GATTTTTTATCCTTACAGGGTATCTCATTGGTGGTGATGTCCTCAGGTTGCTGCATGGACA
77503355	28955	NM_020630.4(RET):c.1859G>A (p.Cys620Tyr)	RET	Jul 21, 2016	na;Human Phenotype Ontology:HP:0002865,MeSH:C536914,MedGen:C0238462,Orphanet:ORPHA1332,SNOMED CT:255032005;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009;MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001;MedGen:C1970712,OMIM:610755,Orphanet:ORPHA276152;MedGen:CN517202	MEN2A and FMTC;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 4;not provided	germline;somatic	10	43113655	ACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGAGTGGGT
864622490	222073	NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter)	ATM	Jun 30, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108282796	ATCTCATTTAGATTATCTGGTTTTGGAATGGCTAAATCTTCAAGATACTGAATACAACTTA
587783540	169908	NM_178151.2(DCX):c.301G>A (p.Val101Met)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410098	CTGTCTGACAACATCAACCTGCCTCAGGGAGTGCGTTACATTTACACCATTGATGGATCCA
572237881	192236	NM_000404.3(GLB1):c.203G>A (p.Arg68Gln)	GLB1	Feb 19, 2015	MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007	Infantile GM1 gangliosidosis	germline	3	33072586	CCCGTGTGCCCCGCTTCTACTGGAAGGACCGGCTGCTGAAGATGAAGATGGCTGGGCTGAA
121917739	28166	NM_002875.4(RAD51):c.449G>A (p.Arg150Gln)	RAD51	Jan 01, 2000	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	15	40718818	GTTTTTGTTCTCTATAGCTTCCCATTGACCGGGGTGGAGGTGAAGGAAAGGCCATGTACAT
267606745	32531	NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg)	COL4A3	Jan 01, 2001	MedGen:C1567743,OMIM:104200,Orphanet:ORPHA88918	Alport syndrome, autosomal dominant	germline	2	227295044	CAAGGACGTGATGGAATTCCTGGTCCAGCCGGAGAAAAGGGAGAAACGGGTACAACTTGCT
113993968	22529	NM_002775.4(HTRA1):c.754G>A (p.Ala252Thr)	HTRA1	Sep 11, 2014	MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	germline	10	122489603	ATCAAGGATGTGGATGAGAAAGCAGACATCGCACTCATCAAAATTGACCACCAGGTAAGGG
587777293	132052	NM_152305.2(POGLUT1):c.11G>A (p.Trp4Ter)	POGLUT1	Jan 02, 2014	MedGen:C3810313,OMIM:615696	Dowling-degos disease 4	germline	3	119469032	CTGCAGTAGGTCTGCCGGCGATGGAGTGGTGGGCTAGCTCGCCGCTTCGGCTCTGGCTGCT
367543048	51273	NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys)	ACTA1	Apr 11, 2013	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007	Congenital myopathy with fiber type disproportion	not provided	1	229433100	CAGAAACTAGACACAATGTGCGACGAAGACGAGACCACCGCCCTCGTGTGCGACAATGGCT
121918586	28098	NM_000324.2(RHAG):c.236G>A (p.Ser79Asn)	RHAG	Feb 01, 1996	MedGen:C4016364	Rh-null hemolytic anemia, regulator type	germline	6	49619284	TGACCTTCCTGAAGAAATATGGCTTCAGCAGTGTGGGTATCAACCTACTCGTTGCTGCTTT
121913237	48247	NM_002524.4(NRAS):c.35G>A (p.Gly12Asp)	NRAS	May 31, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MedGen:C0278701;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003;Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of stomach;Colorectal Neoplasms;Epidermal nevus;Juvenile myelomonocytic leukemia;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Myelodysplastic syndrome;Non-small cell lung cancer;not provided	germline;somatic	1	114716126	CTGAGTACAAACTGGTGGTGGTTGGAGCAGGTGGTGTTGGGAAAAGCGCACTGACAATCCA
121908552	20949	NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)	SCN4A	Apr 21, 2017	MedGen:CN074266,OMIM:170500;MedGen:C0752355,OMIM:608390,Orphanet:ORPHA99734;MedGen:CN517202	Hyperkalemic Periodic Paralysis Type 1;Potassium aggravated myotonia;not provided	germline	17	63964587	TCTTTCTACCTCATCAATCTGATCCTGGCCGTGGTGGCCATGGCATATGCCGAGCAGAATG
180177158	200598	NM_000030.2(AGXT):c.1071+1G>A	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878151	ATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCA
879255590	226778	NM_001830.3(CLCN4):c.1389+5G>A	CLCN4	Mar 22, 2016	MedGen:CN232948	CLCN4-related disorder	maternal	X	10208595	TTACCATATTTACCTTTGGCATGAAGGTAAGTGAAAGGGAAGGAAGATGGGGTGGGGACCC
1064793663	406148	NM_006218.3(PIK3CA):c.278G>A (p.Arg93Gln)	PIK3CA	Mar 07, 2017	MedGen:CN517202	not provided	germline	3	179199103	TTGATGAAACAAGACGACTTTGTGACCTTCGGCTTTTTCAACCCTTTTTAAAAGTAATTGA
104894798	26522	NM_006579.2(EBP):c.87G>A (p.Trp29Ter)	EBP	Jul 01, 1999	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48523858	CAACTTTGTACCTAATGACCGCCCCACCTGGCATATACTGGCTGGCCTCTTCTCTGTCACA
113994104	445112	NM_001845.5(COL4A1):c.1493G>A (p.Gly498Asp)	COL4A1	Jul 06, 2017	MedGen:CN517202	not provided	germline	13	110192257	AAGGTTTCCCAGGGCAGCCAGGGGCCAAGGGCGACAGAGGTTTGCCTGGCAGAGATGGTGT
886042748	268187	NM_001848.2(COL6A1):c.1611+1G>A	COL6A1	Oct 14, 2015	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45998434	CCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTG
558274487	201748	NM_152778.2(MFSD8):c.599G>A (p.Trp200Ter)	MFSD8	Feb 13, 2014	MedGen:CN517202	not provided	germline	4	127939952	TTACATTCCTTGGAGAAAAAGGTGTGACATGGGATGTGATTAAACTGCAGATAAACATGTA
199422309	27777	NM_198253.2(TERT):c.219+1G>A	TERT	May 10, 2012	MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000;MedGen:C3553617,OMIM:614742	Idiopathic fibrosing alveolitis, chronic form;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	germline	5	1294770	CCGCCCCCCGCCGCCCCCTCCTTCCGCCAGGTGGGCCTCCCCGGGGTCGGCGTCCGGCTGG
186044004	136315	NM_000098.2(CPT2):c.1646G>A (p.Gly549Asp)	CPT2	May 15, 2014	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005	Carnitine palmitoyltransferase II deficiency	germline	1	53213264	GACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCT
137854620	24442	NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter)	SCN5A	Oct 01, 2006	MedGen:CN029323,OMIM:601144	Brugada syndrome 1	germline	3	38557268	TCTTTTCCTCCCAGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTC
387906723	38935	NM_203473.2(PORCN):c.1094G>A (p.Arg365Gln)	PORCN	Dec 01, 2009	MedGen:C0016395,OMIM:305600,Orphanet:ORPHA2092	Focal dermal hypoplasia	germline	X	48516082	CCACCCTAGTCCTCCGGAAGCGCCTGGCTCGGATCCTCAGTGCCTGTGTCTTGTCAAAGCG
121912927	32247	NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp)	COL3A1	Mar 09, 2000	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188990308	ATTAATATTTTTTCATTCATTATTTTTAGGGTATCAAAGGTCCAGCTGGGATACCTGGATT
397508243	67971	NM_000492.3(CFTR):c.164+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117504364	TGCTGACAATCTATCTGAAAAATTGGAAAGGTATGTTCATGTACATTGTTTAGTTGAAGAG
397515507	76426	m.3635G>A	MT-ND1	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	3635	TAGGCCTCCTATTTATTCTAGCCACCTCTAGCCTAGCCGTTTACTCAATCCTCTGATCAGG
753611141	223282	NM_015160.2(PMPCA):c.1129G>A (p.Ala377Thr)	PMPCA	Feb 10, 2016	Human Phenotype Ontology:HP:0001488,MedGen:C1865916;Human Phenotype Ontology:HP:0000618,MedGen:C0456909;Human Phenotype Ontology:HP:0004925,MedGen:C1839437;Human Phenotype Ontology:HP:0100275,MedGen:C1854699;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0002283,MedGen:C0241816;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;Human Phenotype Ontology:HP:0002791,MedGen:C3203358;Human Phenotype Ontology:HP:0008947,MedGen:C1860834;Human Phenotype Ontology:HP:0002343,MedGen:C0020258,OMIM:236690,Orphanet:ORPHA314928,SNOMED CT:30753002;Human Phenotype Ontology:HP:0000648,MedGen:C0029124;Human Phenotype Ontology:HP:0007936,MedGen:C2675435;Human Phenotype Ontology:HP:0011344,MedGen:C1854919;MedGen:C1859298,OMIM:213200,Orphanet:ORPHA1170	Bilateral ptosis;Blindness;Chronic lactic acidosis;Diffuse cerebellar atrophy;Failure to thrive;Global brain atrophy;Hypertrophic cardiomyopathy;Hypoventilation;Infantile muscular hypotonia;Normal pressure hydrocephalus;Optic atrophy;Restrictive external ophthalmoplegia;Severe global developmental delay;Spinocerebellar ataxia, autosomal recessive 2	germline	9	136418847	CTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACA
200613617	24691	m.9804G>A	MT-CO3	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	9804	GACGGCATCTACGGCTCAACATTTTTTGTAGCCACAGGCTTCCACGGACTTCACGTCATTA
797046075	207401	NM_178012.4(TUBB2B):c.292G>A (p.Gly98Arg)	TUBB2B	Feb 07, 2017	MedGen:C2750247,OMIM:610031;MedGen:CN517202	Polymicrogyria, asymmetric;not provided	germline	6	3225797	TCTTTCCCTCTGGCAGGCCAGAGTGGAGCCGGGAATAACTGGGCCAAGGGCCACTACACAG
121912871	32402	NM_001844.4(COL2A1):c.1060G>A (p.Gly354Arg)	COL2A1	May 03, 1996	Human Phenotype Ontology:HP:0002657,MedGen:C0700635,OMIM:184250,Orphanet:ORPHA93346	Spondylometaphyseal dysplasia	germline	12	47989769	CGAGGCAACGATGGTCAGCCAGGCCCCGCAGGGCCTCCGGTAAGTTCATTTCATCCTCAGC
587782607	152354	NM_000314.6(PTEN):c.822G>A (p.Trp274Ter)	PTEN	Nov 11, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87960914	TTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAG
28933379	15841	NM_000038.5(APC):c.3359G>A (p.Gly1120Glu)	APC	Jun 01, 1992	Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007	Neoplasm of stomach	somatic	5	112838953	CAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTG
398122369	94456	NM_178012.4(TUBB2B):c.1261G>A (p.Glu421Lys)	TUBB2B	Dec 04, 2015	MedGen:C2750247,OMIM:610031	Polymicrogyria, asymmetric	germline	6	3224828	GCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGGACGCCACGGCCG
1131691601	421448	NM_000094.3(COL7A1):c.5035G>A (p.Gly1679Arg)	COL7A1	Sep 07, 2015	MedGen:CN517202	not provided	germline	3	48580598	GTGGGTGAAAAGGGAGACCAGGGAGATCCTGGAGAGGATGGACGAAATGTGAGTCCCAGCC
281874746	36104	NM_000495.4(COL4A5):c.4702G>A (p.Glu1568Lys)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694820	TCCTTTTCCTTTACCAGATGTGCAGTATGTGAAGCTCCAGCTGTGGTGATCGCAGTTCACA
587779493	106934	NM_000090.3(COL3A1):c.1979G>A (p.Gly660Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188998675	GGCCTAATCATATAATGCCAATCTCCCAGGGTCCAAAGGGTGATGCCGGTGCACCTGGAGC
28931613	31700	NM_001113755.2(TYMP):c.131G>A (p.Arg44Gln)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50529579	AGCAGCTCCCGGAGCTGATCCGCATGAAGCGAGACGGAGGCCGCCTGAGCGAAGCGGACAT
104886145	35799	NM_000495.4(COL4A5):c.1895G>A (p.Gly632Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598817	CCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGTGGCAGGAAA
879255652	247612	NM_014191.3(SCN8A):c.4447G>A (p.Glu1483Lys)	SCN8A	Aug 22, 2016	MedGen:C4310728,OMIM:617080	Seizures, benign familial infantile, 5	germline	12	51790425	TACTTCGGAGGTCAGGACATCTTCATGACCGAAGAACAGAAGAAGTACTACAATGCCATGA
267607196	23725	NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys)	KCNJ11	Jan 05, 2015	MedGen:C0027773,OMIM:601820,SNOMED CT:42681006	Islet cell hyperplasia	germline	11	17387248	CCCAGCGACCTGCACCACCACCAGGACCTCGAGATCATCGTCATCCTGGAAGGCGTGGTGG
774332349	367265	NM_000094.3(COL7A1):c.7219G>A (p.Gly2407Ser)	COL7A1	Apr 29, 2015	MedGen:CN517202	not provided	germline	3	48570914	CCCGGTGCTCCTGGTGTTGTTGGGTTCCCGGGTCAGACAGGCCCTCGAGGAGAGATGGGTC
397508063	67539	NM_000059.3(BRCA2):c.9572G>A (p.Trp3191Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32396968	TGCATATACTGCATGCAAATGATCCCAAGTGGTCCACCCCAACTAAAGACTGTACTTCAGG
1131692055	165724	NM_003990.4(PAX2):c.565G>A (p.Gly189Arg)	PAX2	Sep 01, 2014	MedGen:C4014925,OMIM:616002	Focal segmental glomerulosclerosis 7	germline	10	100781314	AATGACCCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTG
267606909	29167	NM_000257.3(MYH7):c.5296G>A (p.Ala1766Thr)	MYH7	Jun 03, 2008	MedGen:C3150690	Left ventricular noncompaction 5	germline	14	23415258	CCTCTCTCCTGCACACAGGCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACCA
797046098	207590	NM_017890.4(VPS13B):c.8990G>A (p.Trp2997Ter)	VPS13B	May 26, 2015	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	germline	8	99820043	CCTGGGCCCTGCTTATCAATGAATCCAAATGGGACCTCTGGCTATTTGAAGGAGAGAAAAT
797044542	178787	NM_000081.3(LYST):c.11173G>A (p.Gly3725Arg)	LYST	Jan 15, 2015	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	germline	1	235664487	GAGGGAGTATCTATCAATGTAATCGCTGGGGGATTAGAAAATGGAATTGTAAGGTAAGAGG
397509395	65665	NM_014845.5(FIG4):c.311G>A (p.Gly104Asp)	FIG4	May 02, 2013	MedGen:C1857663,OMIM:216340,Orphanet:ORPHA3472	Yunis Varon syndrome	germline	6	109727130	GTTGCATAGGTTTTGTCAGGTTCTTAGAAGGCTATTATATTGTGTTAATAACTAAAAGGAG
876660548	236504	NM_000546.5(TP53):c.273G>A (p.Trp91Ter)	TP53	Dec 05, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome	germline	17	7676096	ACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGTCATCTTCTGTCCCTTCCCAGAAA
104886414	35617	NM_000495.4(COL4A5):c.466-12G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108573562	TAATAACTGTGTCTTAGAACTTCCATTGATGGCTTCTTTTAGGGTGAACCAGGTAGTATAA
1131692190	424294	NM_000527.4(LDLR):c.190+5G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100350	CTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTT
386134167	51333	NM_002739.4(PRKCG):c.392G>A (p.Cys131Tyr)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	not provided	19	53889744	TCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCCTTGCCAGGG
80356594	34693	NM_194248.2(OTOF):c.2991+1G>A	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26475913	TTCTTCATCAATCAGAGTCAGTGCACAGAGGTGAGGGCCTGGGAGGAGGGAGTGGCTCTGG
199475602	108462	NM_000277.2(PAH):c.529G>A (p.Val177Met)	PAH	May 08, 2017	Human Phenotype Ontology:HP:0004923,MedGen:C0751435;MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Hyperphenylalaninemia, non-pku;Phenylketonuria;not provided	germline	12	102855313	CTGTATTCTAGTGGGCAGCCCATCCCTCGAGTGGAATACATGGAGGAAGAAAAGAAAACAT
397516836	53813	NM_003000.2(SDHB):c.600G>A (p.Trp200Ter)	SDHB	Dec 15, 2016	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome	germline	1	17024015	CTGCTGTAGCACCAGCTGCCCCAGCTACTGGTGGAACGGAGACAAATATCTGGGGCCTGCA
137853258	25929	NM_000284.3(PDHA1):c.863G>A (p.Arg288His)	PDHA1	Oct 01, 1999	MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243	Pyruvate dehydrogenase E1-alpha deficiency	germline	X	19357683	GGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGG
371609982	418826	NM_018418.4(SPATA7):c.19G>A (p.Val7Ile)	SPATA7	May 09, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001	Leber congenital amaurosis	germline	14	88385837	AGAGGACTAAGCATGGATGGCAGCCGGAGAGGTAAAGGGCAGCTGTCAGGGGCTACCGCCG
1131691231	421125	NM_177438.2(DICER1):c.2256+1G>A	DICER1	Jun 20, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	14	95111316	ACGAAACGAAGGCAGTGCTACCCAAAAGCAGTTAGTATTGGTTAGAACAGAGTAAAAACCT
267608650	165873	NM_003159.2(CDKL5):c.2047-1G>A	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:CN517202	Atypical Rett syndrome;not provided	de novo	X	18609464	TTAACTTTTATAAATTTCTTTCCTGCCTCAGGGTGGAGTGTATCATGACCCACACTCTGAT
80356937	70128	NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43057117	GGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAG
876657696	231248	NM_002294.2(LAMP2):c.294G>A (p.Trp98Ter)	LAMP2	Mar 18, 2015	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006	Danon disease	germline	X	120455460	AGCAGTGCAGTTCGGACCTGGCTTTTCCTGGATTGCGAATTTTACCAAGGCAGCATCTACT
587779457	107156	NM_000090.3(COL3A1):c.2607+5G>A (p.Gly852_Pro869del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003469	GTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTATTATTGAAAAGC
61748436	22460	NM_000554.5(CRX):c.122G>A (p.Arg41Gln)	CRX	Apr 30, 2017	MedGen:CN074280,OMIM:120970;MedGen:CN517202	Cone-rod dystrophy 2;not provided	germline	19	47836264	CCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACT
121908311	19366	NM_000157.3(GBA):c.1246G>A (p.Gly416Ser)	GBA	Sep 19, 2013	MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:C0268251,OMIM:231000,Orphanet:ORPHA77261,SNOMED CT:5963005	Gaucher disease;Gaucher's disease, type 1;Subacute neuronopathic Gaucher's disease	germline	1	155235823	TTACCCTAGAACCTCCTGTACCATGTGGTCGGCTGGACCGACTGGAACCTTGCCCTGAACC
879255273	246855	NM_198239.1(WISP3):c.643+1G>A	WISP3	-	MedGen:C0432215,OMIM:208230,Orphanet:ORPHA1159,SNOMED CT:254065005	Progressive pseudorheumatoid dysplasia	inherited	6	112064998	AGCTTTCAACAAGCTACAAAACAATGCCAGGTGCTCAGAAGTAGAGCTATTTTTCACGTAT
1057524864	367060	NM_080916.2(DGUOK):c.443+1G>A	DGUOK	Feb 01, 2017	MedGen:CN517202	not provided	germline	2	73946907	GATCTTTGAGAGGTCTGTGTACAGTGACAGGTAAAATGCCAAGCCCTCCACCAGTCACAAG
-1	481647	NM_004369.3(COL6A3):c.6156+1G>A	COL6A3	Jan 04, 2018	MedGen:CN517202	not provided	germline	2	237361738	CGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGA
121909272	23343	NM_000156.5(GAMT):c.506G>A (p.Cys169Tyr)	GAMT	Mar 01, 2005	MedGen:C0574080,OMIM:612736,Orphanet:ORPHA382,SNOMED CT:124239003	Deficiency of guanidinoacetate methyltransferase	germline	19	1398980	TGCTGAAGCCGGGGGGCGTCCTCACCTACTGCAACCTCACCTCCTGGGGGGAGCTGATGAA
1131691159	421080	NM_000051.3(ATM):c.5177+1G>A	ATM	Apr 13, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108299886	CTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATC
886040335	261962	NM_007294.3(BRCA1):c.963G>A (p.Trp321Ter)	BRCA1	Oct 18, 2016	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43094568	TGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGG
104893640	22584	NM_002381.4(MATN3):c.209G>A (p.Arg70His)	MATN3	Jul 25, 2013	MedGen:CN043640;MedGen:C1846843,OMIM:607078,Orphanet:ORPHA93311	Multiple Epiphyseal Dysplasia, Dominant;Multiple epiphyseal dysplasia 5	germline	2	20012423	CGCCCGCTTCCGGGACCAGCGAGCCTGGCCGCGCCCGCGGTGCAGGTACAGGCGGGCGGCG
367585605	185770	NM_005957.4(MTHFR):c.1320G>A (p.Ser440=)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11794385	TGTCTTTGAAGTCTTCGTTCTTTACCTCTCGGGAGAACCAAACCGGAATGGTCACAAAGTG
398124487	102300	NM_138694.3(PKHD1):c.5236+1G>A	PKHD1	Nov 01, 2012	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52024573	TTATTATTACAGCAGTGACGGAGAACTTCGGTAAGTCAAGCAAATAAGACAGCACACTTTC
753355844	259899	NM_152419.2(HGSNAT):c.1411G>A (p.Glu471Lys)	HGSNAT	Jun 05, 2017	MedGen:C0026706,SNOMED CT:88393000;MedGen:CN517202	Sanfilippo syndrome;not provided	germline	8	43193790	CTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCG
111929350	51555	NM_000138.4(FBN1):c.5504G>A (p.Cys1835Tyr)	FBN1	Aug 12, 2014	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48452603	TCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGG
80356461	23637	NM_175875.4(SIX5):c.472G>A (p.Ala158Thr)	SIX5	Aug 27, 2009	MedGen:C1970479,OMIM:610896	Branchiootorenal syndrome 2	germline	19	45768373	GAGAGCCGCCCCTTCCCCGCCGCCCACCACGCCTTCCTGCAGGACCTCTACCTGCGCGCGC
587779550	107219	NM_000090.3(COL3A1):c.2815G>A (p.Gly939Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004135	CCAGGAGAGAAGGGATCGCCTGGTGCCCAGGGCCCACCAGTAAGTAACTTCATTTTTTTAA
864309637	17512	NM_000401.3(EXT2):c.1404+1G>A	EXT2	Oct 01, 1996	MedGen:C1851413,OMIM:133701	Multiple exostoses type 2	germline	11	44171743	TATGAAGAATGGAATGACCCTCCTGCTGTGGTAAGTGAATTCCAGTGCTAGCCACATGAGG
121434238	18396	NM_006445.3(PRPF8):c.6929G>A (p.Arg2310Lys)	PRPF8	Jul 15, 2001	MedGen:C1838702,OMIM:600059	Retinitis pigmentosa 13	germline	17	1650881	ACCCCAAAGAGTTCTACCACGAGGTGCACAGGCCCTCTCACTTCCTCAACTTTGCTCTCCT
587782217	244943	NM_024675.3(PALB2):c.3492G>A (p.Trp1164Ter)	PALB2	Jan 26, 2016	MedGen:CN517202	not provided	germline	16	23603528	CTCTGACCAACATTGGTCTTTTGTGAAATGGTCGGGTACAGACTCTCATTTGCTGGCTGGA
794727995	196416	NM_001098398.1(COPA):c.721G>A (p.Glu241Lys)	COPA	Jun 01, 2015	MedGen:C4225334,OMIM:616414,Orphanet:ORPHA444092	Autoimmune interstitial lung, joint, and kidney disease	germline;inherited	1	160314111	TCTTTTTGTCCTTCAGAATCAAAGGCATGGGAGGTTGATACCTGCCGGGGCCATTACAACA
104886262	36020	NM_000495.4(COL4A5):c.3754G>A (p.Gly1252Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668468	TCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCCTGGGCCCCAAGGTCCTCCTGGGA
587776658	22481	NM_000455.4(STK11):c.465-1G>A	STK11	Jan 01, 1998	MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:ORPHA2869,SNOMED CT:54411001	Peutz-Jeghers syndrome	germline	19	1220372	CGGCCCCAGGACGGGTGTGTGCTGCCCGCAGGTACTTCTGTCAGCTGATTGACGGCCTGGA
1085307752	415208	NM_000264.4(PTCH1):c.1068-1G>A	PTCH1	Apr 06, 2017	MedGen:CN517202	not provided	germline	9	95479148	ATGATGTGCCTTCCCTTGGACTGTGCTGCAGCGCCCATGCCCTGCAGACCATGTTCCAGTT
876658854	235752	NM_001042492.2(NF1):c.5812+1G>A	NF1	Mar 16, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31330499	AAGAGTGTATTTCTGGATTTAGCAAATCTAGTAAGTAATGATAATTTTCTTTAATACTAAC
104894788	26275	NM_004006.2(DMD):c.10019G>A (p.Cys3340Tyr)	DMD	Jul 01, 1996	MedGen:C4016476	Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave	germline	X	31180437	AGCACTTTAATTATGACATCTGCCAAAGCTGCTTTTTTTCTGGTCGAGTTGCAAAAGGCCA
121913037	31694	NM_001113755.2(TYMP):c.433G>A (p.Gly145Arg)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50528595	ATCCCTGACCACCAGGTGCCAATGATCAGCGGACGTGGTCTGGGGCACACAGGAGGCACCT
80055610	22195	NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys)	CFTR	Jun 13, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117587833	GAGGTCAACGAGCAAGAATTTCTTTAGCAAGGTGAATAACTAATTATTGGTCTAGCAAGCA
863224974	213891	NM_000166.5(GJB1):c.44G>A (p.Arg15Gln)	GJB1	Jun 05, 2017	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71223751	GTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCT
774966208	223689	NM_017617.4(NOTCH1):c.578G>A (p.Gly193Asp)	NOTCH1	Jan 01, 2015	Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED CT:86299006	Tetralogy of Fallot	germline	9	136523014	GCCAGAAGCCCGGGCTTTGCCGCCACGGAGGCACCTGCCACAACGAGGTCGGCTCCTACCG
281875212	40294	NM_024110.4(CARD14):c.424G>A (p.Glu142Lys)	CARD14	Nov 25, 2014	MedGen:C1864497,OMIM:602723;MedGen:CN517202	Psoriasis susceptibility 2;not provided	germline	17	80183987	ATCGGCAGCCTGCAGGAGGAGCTGAACCAGGAAAAGGGGCAGAAGGAGGTGCTGCTGCGGC
200672755	211069	NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	WFS1	Feb 13, 2014	MedGen:CN517202	not provided	germline	4	6301815	CTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGG
-1	446698	NM_001111125.2(IQSEC2):c.2889+1G>A	IQSEC2	Sep 27, 2017	MedGen:CN517202	not provided	germline	X	53243331	GTGGAGCGCATGATTGTTGGAAAGAAACCAGTAAGTGCCTTGGGAGGCTGCAGAGGGGCCA
762278237	259697	NM_001271208.1(NEB):c.12018+1G>A	NEB	Jun 23, 2017	MedGen:CN517202	not provided	germline	2	151610515	GCCAAGGCCTCCAGGGACATCGCCAGTGACGTGAGTACCTTCCATCTAACTCTCTGTGGTC
879254012	245179	NM_000166.5(GJB1):c.112G>A (p.Val38Met)	GJB1	Nov 29, 2016	MedGen:CN517202	not provided	germline	X	71223819	ATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGA
1114167382	413985	NM_000088.3(COL1A1):c.3045+1G>A	COL1A1	Mar 16, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline;unknown	17	50188902	GCTGGACCCCCTGGTGAATCTGGACGTGAGGTGAGCAGTCCCCAGCCCCCATGCCAGTACC
180177235	200510	NM_000030.2(AGXT):c.533G>A (p.Cys178Tyr)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240872987	ATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCT
78769542	44530	NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln)	CFTR	Jun 01, 2015	MedGen:C0403814,OMIM:277180,Orphanet:ORPHA48;MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Congenital bilateral absence of the vas deferens;Cystic fibrosis;Hereditary pancreatitis	germline;unknown	7	117611650	AAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAA
104886098	35710	NM_000495.4(COL4A5):c.1139G>A (p.Gly380Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108586721	AAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAGGTAA
63750625	426838	NM_001171.5(ABCC6):c.3877G>A (p.Glu1293Lys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16157668	CAGGGCGTGTCCTTCAAGATCCACGCAGGAGAGAAGGTGAGTGGTTCTCTCACAATGTCTT
387907360	59420	NM_005120.2(MED12):c.3443G>A (p.Arg1148His)	MED12	Aug 11, 2016	MedGen:C3698541,OMIM:300895,Orphanet:ORPHA293707	Ohdo syndrome, X-linked	germline	X	71128686	GGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGC
59115483	29696	NM_000424.3(KRT5):c.508G>A (p.Glu170Lys)	KRT5	Jun 08, 2016	MedGen:C0080333,OMIM:131800,Orphanet:ORPHA79400;MedGen:C1832926,OMIM:601001;MedGen:CN517202	Epidermolysis bullosa simplex, Cockayne-Touraine type;Epidermolysis bullosa simplex, autosomal recessive;not provided	germline	12	52519789	AGCATCCAGAGGGTGAGGACCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATAAGTTTG
267607473	77496	NM_005555.3(KRT6B):c.1381G>A (p.Glu461Lys)	KRT6B	Aug 13, 2015	MedGen:CN517202	not provided	germline	12	52447821	CTGATGAACGTCAAGCTGGCCCTGGATGTGGAGATCGCCACCTACCGCAAGCTGCTGGAGG
267606767	31844	NM_001361.4(DHODH):c.605G>A (p.Gly202Asp)	DHODH	Jan 01, 2010	MedGen:C0265257,OMIM:263750,SNOMED CT:66038001	Miller syndrome	germline	16	72021211	AGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGT
121912584	15604	NM_018344.5(SLC29A3):c.1309G>A (p.Gly437Arg)	SLC29A3	Dec 12, 2016	MedGen:C1864445,OMIM:602782,Orphanet:ORPHA168569;MedGen:CN517202	Histiocytosis-lymphadenopathy plus syndrome;not provided	germline	10	71362489	GGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATTGTGCCCAGGGAGCTGGCTG
863224972	213892	NM_001097642.2(GJB1):c.224G>A (p.Arg75Gln)	GJB1	Mar 04, 2013	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	germline	X	71223931	ATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTC
121912451	29813	NM_000454.4(SOD1):c.404G>A (p.Ser135Asn)	SOD1	Jan 01, 1997	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31668517	ATGACTTGGGCAAAGGTGGAAATGAAGAAAGTACAAAGACAGGAAACGCTGGAAGTCGTTT
387907033	39818	NM_001146261.2(SYT14):c.1451G>A (p.Gly484Asp)	SYT14	Aug 12, 2011	MedGen:C3280226,OMIM:614229,Orphanet:ORPHA284271	Spinocerebellar ataxia, autosomal recessive 11	germline	1	210155872	CTGGAAGACTATCAGCAGAAGTGATAAAAGGCAGCCACTTCAAAAATTTGGCAGCAAACAG
-1	431521	NM_005862.2(STAG1):c.1118G>A (p.Arg373Gln)	STAG1	Aug 31, 2017	MedGen:CN429988,OMIM:617635;na	MENTAL RETARDATION, AUTOSOMAL DOMINANT 47;STAG1-related disorder	de novo;germline	3	136473546	TATTCCCCAAATTGGAACTATTCACTAACCGATTCAAGGTAAGCATCAAGAATGATAAGCT
132630268	26154	NM_000377.2(WAS):c.257G>A (p.Arg86His)	WAS	Nov 19, 2015	MedGen:C0043194,OMIM:277970,OMIM:301000,Orphanet:ORPHA906,SNOMED CT:36070007;MedGen:CN517202	Wiskott-Aldrich syndrome;not provided	germline	X	48684407	AGGATAACCCCCAGAAGTCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACC
869025180	22981	NM_000503.5(EYA1):c.639+1G>A	EYA1	Jan 01, 2006	MedGen:CN034490,OMIM:166780	Otofaciocervical syndrome 1	germline	8	71299637	AATTCCTCTGGATTTAATAGTTCACAGCAGGTAATTTAAAAAGCCAGTTTAACTTCTGAAA
587779252	94805	NM_000179.2(MSH6):c.3020G>A (p.Trp1007Ter)	MSH6	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47801003	AATCTACCAAGAAGGGCTGTAAACGATACTGGACCAAAACTATTGAAAAGAAGTTGGCTAA
879255682	247647	NM_144997.5(FLCN):c.1532G>A (p.Trp511Ter)	FLCN	Jul 18, 2016	MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001	Multiple fibrofolliculomas	germline	17	17214991	ACCAGTGCCTCGTCTGCCTCAAGGAGGAGTGGATGAAGTAAGCAACAGTGTGGGTGAGGCC
267607120	18433	NM_147196.2(TMIE):c.170G>A (p.Trp57Ter)	TMIE	Jun 01, 2009	MedGen:C1832992,OMIM:600971	Deafness, autosomal recessive 6	germline	3	46705866	AGACAGTGGTGTTCTGGGACATGCGCCTGTGGCACGTGGTGGGCATCTTTTCGCTCTTCGT
58668703	426796	NM_001171.5(ABCC6):c.4254G>A (p.Arg1418=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150727	GCTCCTGTGTCTGGCACGTGCCCTTCTCCGGAAGACCCAGATCCTCATCCTGGACGAGGCT
387906511	27245	NM_000490.4(AVP):c.55G>A (p.Ala19Thr)	AVP	Aug 01, 1999	Human Phenotype Ontology:HP:0000863,MedGen:C0687720,OMIM:125700,Orphanet:ORPHA178029,SNOMED CT:45369008	Neurohypophyseal diabetes insipidus	germline	20	3084620	TGCTTCCTCGGCCTACTGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCCCGAGGGGCG
377274761	360963	NM_000153.3(GALC):c.850G>A (p.Gly284Ser)	GALC	Nov 08, 2016	Human Phenotype Ontology:HP:0000646,MedGen:C0002418;Human Phenotype Ontology:HP:0001623,MedGen:C0006157;Human Phenotype Ontology:HP:0002376,MedGen:C1855009;Human Phenotype Ontology:HP:0006978,MedGen:C3278204;Human Phenotype Ontology:HP:0002353,MedGen:C0151611;Human Phenotype Ontology:HP:0003457,MedGen:C0476403;Human Phenotype Ontology:HP:0003482,MedGen:C4025609;MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001269,MedGen:C0018989;Human Phenotype Ontology:HP:0001511,MedGen:C1386048;Human Phenotype Ontology:HP:0002415,MedGen:C0023520,Orphanet:ORPHA68356;Human Phenotype Ontology:HP:0006957,MedGen:C1849097;Human Phenotype Ontology:HP:0001998,MedGen:C0158986;Human Phenotype Ontology:HP:0000639,MedGen:C0028738;Human Phenotype Ontology:HP:0000529,MedGen:C3277697;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0001518,MedGen:C0021288;Human Phenotype Ontology:HP:0002133,MedGen:C0038220;Human Phenotype Ontology:HP:0000486,MedGen:C0038379	Amblyopia;Breech presentation;Developmental regression;Dysmyelinating leukodystrophy;EEG abnormality;EMG abnormality;EMG: axonal abnormality;Galactosylceramide beta-galactosidase deficiency;Global developmental delay;Hemiparesis;Intrauterine growth retardation;Leukodystrophy;Loss of ability to walk;Neonatal hypoglycemia;Nystagmus;Progressive visual loss;Seizures;Small for gestational age;Status epilepticus;Strabismus	germline;unknown	14	87968393	GAAGACTTTAGCACTTTAAATAGTGACATGGGTGCAGGCTGCTGGGGTCGCATTTTAAATC
-1	484375	NM_000051.3(ATM):c.6615G>A (p.Trp2205Ter)	ATM	Dec 08, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108325352	TAGACAACTCTCTGAAGTATATATTAAGTGGCAGAAACACTCCCAGCTTCTCAAGGACAGT
28936376	23994	NM_000098.2(CPT2):c.1657G>A (p.Asp553Asn)	CPT2	Jan 01, 1995	MedGen:C1833508,OMIM:255110,Orphanet:ORPHA228302	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	germline	1	53213275	TCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGG
1057517698	359185	NM_181783.3(TMTC3):c.3G>A (p.Met1Ile)	TMTC3	Dec 17, 2016	MedGen:C4310646,OMIM:617255	Lissencephaly 8	germline	12	88148318	TTTTTGTCCAGAAGTGCTTATAGAAAAGATGGCTAATATTAACCTAAAAGAAATAACCTTA
119485095	20077	NM_022041.3(GAN):c.505G>A (p.Glu169Lys)	GAN	Apr 01, 2009	MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:128207002	Giant axonal neuropathy	germline	16	81354627	ACTCATTTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTA
797045191	206628	NM_033409.3(SLC52A3):c.160G>A (p.Gly54Arg)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	765615	CTCACGGTGGTCATCCAGCTGGCCAACATCGGGCCCCTCCTGGTCACCCTGCTCCATCACT
587777320	132603	NM_000856.5(GUCY1A1):c.1086+1G>A	GUCY1A1	Mar 06, 2014	MedGen:C3810403,OMIM:615750,Orphanet:ORPHA401945	Moyamoya disease 6 with achalasia	germline	4	155711252	TGGGACAACTCTGTGAAAAAATCTTCAAGGGTAAGGAAAACATAATACTATCTTGAATATG
794728567	197456	NM_000218.2(KCNQ1):c.969G>A (p.Trp323Ter)	KCNQ1	Jan 06, 2012	MedGen:CN517202	not provided	germline	11	2583482	CGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCT
121434458	24664	m.5591G>A	MT-TA	Feb 14, 2006	Human Phenotype Ontology:HP:0003737,MedGen:C0162670,OMIM:251900,Orphanet:ORPHA206966	Mitochondrial myopathy	germline	MT	5591	TTGCAATACTTAATTTCTGTAACAGCTAAGGACTGCAAAACCCCACTCTGCATCAACTGAA
111033612	26231	NM_139058.2(ARX):c.995G>A (p.Arg332His)	ARX	Feb 08, 2013	MedGen:C1846171,OMIM:300215,Orphanet:ORPHA452;MedGen:CN517202	Lissencephaly 2, X-linked;not provided	germline	X	25013000	GGCTGCTGAAACGCAAACAGAGGCGCTACCGCACCACGTTCACCAGCTACCAGCTGGAGGA
139353014	247347	NM_014617.3(CRYGA):c.239G>A (p.Arg80His)	CRYGA	Jul 29, 2016	Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Congenital cataract	inherited	2	208163217	TGGGCCTCAGCGACTCGGTCCAATCCTGCCGTATAATTCCTCATGTGAGTCTTGCTTCAAC
-1	443646	NM_000038.5(APC):c.1263G>A (p.Trp421Ter)	APC	May 12, 2017	MedGen:CN517202	not provided	germline	5	112819295	ACAGATACGCGCTTACTGTGAAACCTGTTGGGAGTGGCAGGAAGCTCATGAACCAGGCATG
121434303	20522	NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu)	FBLN5	Jun 01, 2011	MedGen:C1837187,OMIM:608895	Age-related macular degeneration 3	germline	14	91870336	CCACCCTGGTGATGACACGCCCCATCAAAGGGCCCCGGGAAATCCAGCTGGACTTGGAAAT
730882035	180121	NM_000551.3(VHL):c.482G>A (p.Arg161Gln)	VHL	Sep 22, 2017	Gene:8056,MedGen:C1837915,OMIM:263400,Orphanet:ORPHA238557;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:CN517202	Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome;not provided	germline	3	10149805	TTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAA
121913134	29886	NM_000183.2(HADHB):c.1331G>A (p.Arg444Lys)	HADHB	Dec 01, 2009	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Mitochondrial trifunctional protein deficiency	germline	2	26285513	GCTGCAGGTTGGTCATGGCTGCTGCCAACAGATTACGGAAAGAAGGAGGCCAGTATGGCTT
121918348	23157	NM_005631.4(SMO):c.1685G>A (p.Arg562Gln)	SMO	Jan 01, 1998	MedGen:C3838465	Basal cell carcinoma, somatic	somatic	7	129210997	TGACTGGGCAGAGTGACGATGAGCCAAAGCGGATCAAGAAGAGCAAGATGATTGCCAAGGC
141158996	22214	NM_000492.3(CFTR):c.2490+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117592658	AGTGAAGAAATTAACGAAGAAGACTTAAAGGTAGGTATACATCGCTTGGGGGTATTTCACC
1057520918	376243	NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln)	CACNA1A	Jan 09, 2017	MedGen:CN517202	not provided	germline	19	13262780	TCAACACGATTAAATCCCTCCGAGTCCTCCGGGTGCTACGACCTCTTAAAACCATCAAGCG
1057518178	359780	NM_006772.2(SYNGAP1):c.1716G>A (p.Trp572Ter)	SYNGAP1	Oct 28, 2016	MedGen:CN517202	not provided	germline	6	33440768	GAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAG
587783285	167748	NM_018136.4(ASPM):c.8903G>A (p.Trp2968Ter)	ASPM	Feb 08, 2013	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197096082	CCTGCAAGATTCAAGCCTGGTATAGATGTTGGAGAGCACACAAAGAATATCTAGCTATATT
267606888	24759	m.4810G>A	MT-ND2	Mar 22, 2005	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	MT	4810	TAAAACTAGGAATAGCCCCCTTTCACTTCTGAGTCCCAGAGGTTACCCAAGGCACCCCTCT
796065032	17282	NM_000433.3(NCF2):c.366+1G>A	NCF2	Aug 19, 2016	MedGen:C1856245,OMIM:233710;MedGen:CN517202	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;not provided	germline	1	183577598	GGGCTCCAGTTCAAGCTGTTTGCCTGTGAGGTAAGGAGAACAGGGCCTGGCCTGGGCAGGA
281874695	47369	NM_000495.4(COL4A5):c.2483G>A (p.Gly828Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108614998	TAGGTGTTCAGGGACCACCAGGACCACCAGGGATTCCTGGGCCAATAGGTCAACCTGGTAA
121912556	29871	NM_005543.3(INSL3):c.305G>A (p.Arg102His)	INSL3	Sep 01, 2003	Human Phenotype Ontology:HP:0000028,MedGen:C0010417,OMIM:219050	Cryptorchidism, unilateral or bilateral	germline	19	17816945	AGCCCCTGCCCCAGACCTCTCACCATCACCGCCACCACCGTGCAGCTGCCACCAACCCTGC
863225145	214242	NM_001134831.1(AHI1):c.2023G>A (p.Asp675Asn)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135438388	GATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGTTAGTATCCTTGAGAA
267607169	22798	NM_001017535.1(VDR):c.1036G>A (p.Val346Met)	VDR	Jan 01, 2008	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47844994	TCTATCCCCGTGCCCACAGATCGTCCTGGGGTGCAGGACGCCGCGCTGATTGAGGCCATCC
104886171	35843	NM_000495.4(COL4A5):c.2287G>A (p.Gly763Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108606784	TTTGCATTACCTGGGCCACCTGGGCCACCAGGACTTCCAGGTTTCAAAGGAGCACTTGGTC
869025587	224174	NM_152464.2(TMEM199):c.376-1G>A	TMEM199	Feb 29, 2016	MedGen:C4225190,OMIM:616829,Orphanet:ORPHA466703;MedGen:CN234782	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp;Congenital disorders of glycosylation type II	germline	17	28360528	TTCTGAATCATCTTCTTTTTCTTTTTCCCAGGATACAAGACATGGTGGGACTCTCAGCGAC
202114767	404825	NM_000339.2(SLC12A3):c.2891G>A (p.Arg964Gln)	SLC12A3	Sep 23, 2015	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	maternal	16	56904402	CCACTCGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTGCTGGA
140883175	424401	NM_015512.4(DNAH1):c.3877G>A (p.Asp1293Asn)	DNAH1	Jul 20, 2017	MedGen:CN337166,OMIM:617576	SPERMATOGENIC FAILURE 18	germline	3	52357632	CGGGCCCTGCAGGTGATCAATGTGTGTTCCGACCTGAGAATGCTGGACAGCCTGCGGGACT
794726762	213804	NM_001165963.1(SCN1A):c.264+5G>A	SCN1A	Jan 21, 2015	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	germline	2	166073353	TGGACCCCTACTATATCAATAAGAAAGTGAGTGTTTTTTATCAGGCATATTTTGCTGCTAA
63751715	95090	NM_000249.3(MLH1):c.1038G>A (p.Gln346=)	MLH1	Aug 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	3	37020463	CTCCAATTCCTCCAGGATGTACTTCACCCAGGTCAGGGCGCTTCTCATCCAGCTACTTCTC
72554337	103036	NM_000531.5(OTC):c.248G>A (p.Gly83Asp)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369827	ATTTGCCTTTATTGCAAGGGAAGTCCTTAGGCATGATTTTTGAGAAAAGAAGTACTCGAAC
377385081	237620	NM_016239.3(MYO15A):c.6340G>A (p.Val2114Met)	MYO15A	Feb 16, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18145938	GCCCGGGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGAGCTGC
886040799	261506	NM_000059.3(BRCA2):c.8910G>A (p.Trp2970Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32379472	AGGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAA
606231238	48237	NM_144577.3(CCDC114):c.486+1G>A	CCDC114	Feb 06, 2013	MedGen:C3540844,OMIM:615067	Ciliary dyskinesia, primary, 20	germline	19	48311552	TATCTGAACGTGGACCGCAAGCTGAAGAAGGTCAGTGGCCCTGAAATCCAGGGGAGGAGAC
104886066	35645	NM_000495.4(COL4A5):c.638G>A (p.Gly213Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108577980	AGGGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAGGTAATTTTCTTTTTCTTTATATC
398124295	101603	NM_015506.2(MMACHC):c.608G>A (p.Trp203Ter)	MMACHC	Dec 02, 2013	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26	Methylmalonic acidemia with homocystinuria	germline	1	45508974	TCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGA
786204082	185977	NM_000251.2(MSH2):c.491G>A (p.Gly164Glu)	MSH2	Jul 26, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C2936783,OMIM:120435	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I	germline	2	47410218	CAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGG
142329098	224833	NM_030780.4(SLC25A32):c.440G>A (p.Arg147His)	SLC25A32	Oct 05, 2016	MedGen:C4225187,OMIM:616839	Exercise intolerance, riboflavin-responsive	germline	8	103403276	TTACAAACCCATTATGGGTAACAAAAACTCGCCTTATGTTACAGTATGATGCTGTTGTTAA
80359011	46678	NM_000059.3(BRCA2):c.7857G>A (p.Trp2619Ter)	BRCA2	Jul 25, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32362574	TGTGGATCCAAAGCTTATTTCTAGAATTTGGGTTTATAATCACTATAGATGGATCATATGG
587779538	106987	NM_000090.3(COL3A1):c.1149+5G>A (p.Gly351_Pro383del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188993464	GACACGCTGGTGCTCAAGGTCCTCCTGTAAGTATCATAGTTGAGAGGGAGTAAGCATAGTT
137853256	25923	NM_000284.3(PDHA1):c.943G>A (p.Asp315Asn)	PDHA1	Aug 15, 2017	MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243	Pyruvate dehydrogenase E1-alpha deficiency	germline	X	19358959	GAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGG
752989523	213918	NM_003119.3(SPG7):c.1996G>A (p.Gly666Arg)	SPG7	-	MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013	Spastic paraplegia 7	germline	16	89553853	CGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCT
794727058	191196	NM_001182.4(ALDH7A1):c.1093+1G>A	ALDH7A1	Feb 23, 2015	MedGen:C1849508,OMIM:266100	Pyridoxine-dependent epilepsy	germline	5	126555930	CACAGATCCGAGTTGGGAACCCATGGGACCGTGAGTATCTCCTTCTGCTTTCAAAGCGATC
-1	485747	NM_000197.1(HSD17B3):c.454-1G>A	HSD17B3	Apr 07, 2008	MedGen:C0033804	Pseudohermaphroditism	germline	9	96249787	GCTGATGTGTGGTTGTGATTATTTATTACAGAGCCTCATCCATTGTAACATCACCTCCGTA
786205078	20858	NM_139025.4(ADAMTS13):c.331-1G>A	ADAMTS13	Oct 01, 2004	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133425528	CGGGTTACCTCTCTCATCTGCCCTTGCACAGGGGGCAGAACTGCTTCGGGACCCGTCCCTG
132630285	26121	NM_001128834.2(PLP1):c.220G>A (p.Gly74Arg)	PLP1	Jul 01, 1992	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000	Pelizaeus-Merzbacher disease	germline	X	103786493	AGGATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTCCTTTATGGGG
118204448	15746	NM_000512.4(GALNS):c.871G>A (p.Ala291Thr)	GALNS	Jul 01, 2003	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88835240	ACCTTCGTCTTCTTCACGTCGGACAACGGCGCTGCCCTCATTTCCGCCCCCGAACAAGGTG
121909387	16343	NM_001174089.1(SLC4A11):c.2216G>A (p.Arg739Gln)	SLC4A11	Mar 01, 2008	MedGen:C0544008	Corneal endothelial dystrophy	germline	20	3228684	ACCGCAGGATTGTGAACGTGAAGGAGACGCGGCTGACCTCGCTGGGCGCCAGCGTCCTGGT
796053350	202276	NM_003165.3(STXBP1):c.87+1G>A	STXBP1	Sep 27, 2012	MedGen:CN517202	not provided	germline	9	127651653	AAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAG
28941471	17504	NM_000026.3(ADSL):c.569G>A (p.Arg190Gln)	ADSL	Sep 25, 2015	MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008;MedGen:CN517202	Adenylosuccinate lyase deficiency;not provided	germline	22	40358950	GCATGGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGTAAAGGG
72659338	32322	NM_000089.3(COL1A2):c.3295G>A (p.Gly1099Arg)	COL1A2	Mar 01, 2009	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	germline	7	94427654	CAGGGCCCCCCTGGTCCCCCTGGCCCTCCTGGACCTCCAGGTGTAAGCGGTGGTGGTTATG
137852825	15558	NM_001999.3(FBN2):c.3758G>A (p.Cys1253Tyr)	FBN2	Dec 01, 1995	MedGen:C0220668,OMIM:121050,Orphanet:ORPHA115,SNOMED CT:205821003	Congenital contractural arachnodactyly	germline	5	128335544	TTGATGAATGTATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTCAGAGGGAAG
869025341	223777	NM_000702.3(ATP1A2):c.571G>A (p.Val191Met)	ATP1A2	Feb 18, 2016	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160124371	GAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACC
67507747	260184	NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser)	COL1A1	Apr 20, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:C0268360,OMIM:166210,SNOMED CT:86470003;MedGen:CN517202	Osteogenesis imperfecta type I;Osteogenesis imperfecta, recessive perinatal lethal;not provided	germline;maternal	17	50194032	TTTCGTGCCTCCCATCCTTAGGGTCCCGCCGGTCAAGATGGTCGCCCCGGACCCCCAGGCC
193922717	45445	NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys)	STAT3	Oct 30, 2014	MedGen:C4014795,OMIM:615952,Orphanet:ORPHA438159;MedGen:C0022398,OMIM:147060,SNOMED CT:50926003	Autoimmune disease, multisystem, infantile-onset, 1;Hyperimmunoglobulin E syndrome	de novo;germline	17	42329448	TGCCTTTTTCTTTTCTTACAGACCCTGAGGGAGCAGAGATGTGGGAATGGGGGCCGAGCCA
267608653	153528	NM_003159.2(CDKL5):c.2152G>A (p.Val718Met)	CDKL5	Mar 19, 2014	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	de novo;germline	X	18609570	GTGCCAAGGAGAGTTGGTAGCTTTTACAGAGGTAAGCCCACCCCCGGCATTCAACAGGTTC
121912858	32443	NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser)	COL4A4	Jan 01, 1997	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919	Alport syndrome, autosomal recessive	germline	2	227032253	CATTAAGGTTTGCATGATGTGGGGCCACCTGGTCCAGTGGGAATACCTGGGCTAAAAGGGG
28942109	17962	NM_001033503.2(SAR1B):c.409G>A (p.Asp137Asn)	SAR1B	Feb 11, 2016	MedGen:C0795956,OMIM:246700,Orphanet:ORPHA71	Chylomicron retention disease	germline	5	134608443	GTGCCTATACTGATTCTTGGGAATAAGATCGACAGACCTGAAGCCATCAGTGAAGAGAGGT
515726192	136340	NM_015713.4(RRM2B):c.583G>A (p.Gly195Arg)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102218915	GAAAGAGTGGTGGCCTTTGCTGCTGTAGAAGGAGTTTTCTTCTCAGGATCTTTTGCTGCTA
794729273	199226	NM_001256850.1(TTN):c.48432G>A (p.Trp16144Ter)	TTN	Nov 23, 2016	MedGen:CN517202	not provided	germline	2	178607247	AACAAACAGAAAAATGTGTCTACTTAACTGGTCTGATCCAGAAGATGATGGAGGAAGTGAA
587779676	107180	NM_000090.3(COL3A1):c.636+1G>A (p.Gly195_Ser212del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988644	CCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAG
104893875	29049	NM_000345.3(SNCA):c.136G>A (p.Glu46Lys)	SNCA	Mar 04, 2005	MedGen:C0752347,OMIM:127750	Lewy body dementia	germline	4	89828170	GAATTTGTTTTTGTAGGCTCCAAAACCAAGGAGGGAGTGGTGCATGGTGTGGCAACAGGTA
1060501324	391291	NM_001128425.1(MUTYH):c.1047G>A (p.Trp349Ter)	MUTYH	Mar 31, 2016	MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798	MYH-associated polyposis	germline	1	45331800	CCACCTGTGCCTGCCTCCCTCGGAGCCCTGGGACCAGACCCTGGGAGTGGTCAACTTCCCC
397507507	48960	NM_002834.4(PTPN11):c.178G>A (p.Gly60Ser)	PTPN11	Jan 15, 2015	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN517202	Noonan syndrome;not provided	germline	12	112450358	GCTGTCACCCACATCAAGATTCAGAACACTGGTGATTACTATGACCTGTATGGAGGGGAGA
431905518	102926	NM_206883.2(SLC26A5):c.209G>A (p.Trp70Ter)	SLC26A5	Feb 10, 2014	MedGen:C3151230,OMIM:613865	Deafness, autosomal recessive 61	germline	7	103420821	TCATTTATATGTTCCTACCCATAACTAAATGGCTGCCAGCATACAAATTCAAGGAATATGT
527236068	152826	NM_001142800.1(EYS):c.6557G>A (p.Gly2186Glu)	EYS	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	6	64081870	ACTTGACTATAAAAACAAACAGTTTAAATGGAACTATTCTTTACAGTGAGTATTAAATGTT
1057520844	365825	NM_021007.2(SCN2A):c.4904G>A (p.Arg1635Gln)	SCN2A	Dec 29, 2016	MedGen:CN517202	not provided	germline	2	165388710	TCCGAGTGATCCGTCTTGCCAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGCAAAGGG
121909640	31337	NM_023110.2(FGFR1):c.142G>A (p.Gly48Ser)	FGFR1	Oct 01, 2006	MedGen:C1563720,OMIM:147950	Kallmann syndrome 2	germline	8	38429898	GTGGAAGTGGAGTCCTTCCTGGTCCACCCCGGTGACCTGCTGCAGCTTCGCTGTCGGCTGC
74315438	19891	NM_001146077.1(CLDN14):c.301G>A (p.Gly101Arg)	CLDN14	Jun 01, 2005	MedGen:C3279660,OMIM:614035	Deafness, autosomal recessive 29	germline	21	36461395	TCGGGCATAGCCTGCGCCTGCGCCGTCATCGGGATGAAGTGCACGCGCTGCGCCAAGGGCA
104886440	35653	NM_000495.4(COL4A5):c.687+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108578120	TTAAATTTCCAGGGACCCAAAGGTGAAAAAGTGAGTAAAGAAAGAGAGCTGGTTATTCAGC
180177203	200472	NM_000030.2(AGXT):c.332G>A (p.Arg111Gln)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869336	TGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAA
-1	439709	NM_005956.3(MTHFD1):c.1674G>A (p.Thr558=)	MTHFD1	Nov 21, 2017	MedGen:CN635903,OMIM:617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	germline	14	64439172	GGCTCCAACGGAGAAGGGTCACACACGGACGGTAACAATTTGTCCCTTTCCAAGGAAATTA
267607237	22575	NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His)	KMT2D	Aug 18, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49026430	TTCAGCGGGGAGAACGGCTGCACATGTTCCGTGTGGGGGGCCTTGTGTTCCACGCCATCGG
120074179	18157	NM_000218.2(KCNQ1):c.760G>A (p.Val254Met)	KCNQ1	Jul 29, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;Long QT syndrome 1;not provided	germline	11	2572089	CAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCC
778031266	223599	NM_000051.3(ATM):c.6198+1G>A	ATM	Mar 09, 2017	MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108316114	TCATCAACACGCCAGGCAGGAATCATTCAGGTACATTTTTTCCCAGATTTGGTAAAGCCAT
121964998	26997	NM_000191.2(HMGCL):c.835G>A (p.Glu279Lys)	HMGCL	Oct 01, 2000	MedGen:C0268601,OMIM:246450,SNOMED CT:124611007	Deficiency of hydroxymethylglutaryl-CoA lyase	germline	1	23804441	GCACAGGGGGCATCAGGAAACTTGGCCACAGAAGACCTGGTCTACATGCTAGAGGGCTTGG
201330912	106501	NM_004366.5(CLCN2):c.1709G>A (p.Trp570Ter)	CLCN2	Sep 09, 2015	MedGen:C3810242,OMIM:615651,Orphanet:ORPHA363540	Leukoencephalopathy with ataxia	germline	3	184354113	AGAAACTGCCCTACCTGCCTGAGCTCGGCTGGGGCCGCCACCAGTACGGAGGGCTGGGTGC
150203483	214823	NM_177550.4(SLC13A5):c.1022G>A (p.Trp341Ter)	SLC13A5	Nov 01, 2015	MedGen:C4014621,OMIM:615905	Epileptic encephalopathy, early infantile, 25	germline	17	6695759	TCTCCCGAGACCCCGGCTTCATGCCCGGCTGGCTGACTGTTGCCTGGGTGGAGGGTGAGAC
193922702	44799	NM_020638.2(FGF23):c.536G>A (p.Arg179Gln)	FGF23	Dec 05, 2013	MedGen:C0342642,OMIM:193100,Orphanet:ORPHA89937,SNOMED CT:237889002	Autosomal dominant hypophosphatemic rickets	germline;paternal	12	4370563	TCAACACCCCCATACCACGGCGGCACACCCGGAGCGCCGAGGACGACTCGGAGCGGGACCC
587777357	132675	NM_178014.3(TUBB):c.1201G>A (p.Glu401Lys)	TUBB	Dec 27, 2012	MedGen:C4014283,OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	germline	6	30724263	CGGAAGGCCTTCCTCCACTGGTACACAGGCGAGGGCATGGACGAGATGGAGTTCACCGAGG
879254804	246009	NM_000527.4(LDLR):c.1136G>A (p.Cys379Tyr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111589	TGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACAC
397517976	57550	NM_206933.2(USH2A):c.11954G>A (p.Trp3985Ter)	USH2A	Jun 21, 2011	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215728142	CCACGAGTGCTCATTCAGTTCTGTTGAATTGGACAAAGCCAGAATCTCCCAATGGCATTAT
80357212	70255	NM_007294.3(BRCA1):c.5467G>A (p.Ala1823Thr)	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43047643	GATGCCTGGACAGAGGACAATGGCTTCCATGGTAAGGTGCCTGCATGTACCTGTGCTATAT
113994123	15734	NM_001145320.1(ADAMTSL2):c.340G>A (p.Glu114Lys)	ADAMTSL2	Jun 17, 2017	MedGen:C3278147,OMIM:231050,SNOMED CT:28557005	Geleophysic dysplasia 1	germline;inherited	9	133539801	GAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACG
119455954	17681	NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr)	TPP1	May 23, 2017	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349;MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007;MedGen:CN517202	Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;not provided	germline;unknown	11	6616056	GGTCTCTCTCAGGTGACAGTGGGGCCGGGTGTTGGTCTGTCTCTGGAAGACACCAGTTCCG
61752406	105033	NM_000350.2(ABCA4):c.2564G>A (p.Trp855Ter)	ABCA4	Nov 14, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94055134	TTGATGCTGCTGTCTATGGCTTACTCGCTTGGTACCTTGATCAGGTGTTTCCAGGTAAGCA
121908667	21317	NM_002335.3(LRP5):c.2202G>A (p.Trp734Ter)	LRP5	Nov 16, 2001	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68410024	CGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAACAGAATCGAAGTG
-1	440779	NM_015560.2(OPA1):c.2334G>A (p.Trp778Ter)	OPA1	May 25, 2017	MedGen:CN517202	not provided	germline	3	193659540	TCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAGGTAGAAATA
114303883	426969	NM_001171.5(ABCC6):c.2125G>A (p.Glu709Lys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182534	GAGGCCTGGGTGCAGAACACCTCTGTGGTAGAGAATGTGTGCTTCGGGCAGGAGCTGGACC
121918785	79485	NM_006920.4(SCN1A):c.2552G>A (p.Arg851Gln)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166039427	TGGAAGGATTATCTGTTCTCCGTTCATTTCGATTGGTAAAAAAAAAAAAAAAAAGCACCAA
886041547	264898	NM_001271.3(CHD2):c.4413+1G>A	CHD2	Aug 05, 2016	MedGen:CN517202	not provided	germline	15	93004752	GATGATCTGGACCAGGAGACATTCAGCATAGTAAGTCTTGAAATCGGGGGGTGCCAGTGTC
66468541	32596	NM_199440.1(HSPD1):c.292G>A (p.Val98Ile)	HSPD1	May 01, 2002	MedGen:C1854467,OMIM:605280,Orphanet:ORPHA100994	Spastic paraplegia 13	germline	2	197497275	GATAAATACAAAAACATTGGAGCTAAACTTGTTCAAGATGTTGCCAATAACACAAATGAAG
398123019	51190	NM_032957.4(RTEL1):c.823G>A (p.Glu275Lys)	RTEL1	Apr 23, 2013	MedGen:C3554656,OMIM:615190	Dyskeratosis congenita, autosomal recessive, 5	germline	20	63672607	GACCTGAAGGGGACAGTCGTGATCTTTGACGAAGCTCACAACGTGGTGAGTCTCCGCTGGC
386834233	76679	NM_183050.3(BCKDHB):c.832G>A (p.Gly278Ser)	BCKDHB	Jul 08, 2016	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001;MedGen:C1855370	Maple syrup urine disease;Maple syrup urine disease type 1B	germline;unknown	6	80201023	GAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTCAGGTGAGTAGCATTGATCCCAACT
886041788	264788	NM_020461.3(TUBGCP6):c.1833+1G>A	TUBGCP6	May 17, 2016	MedGen:CN517202	not provided	germline	22	50226049	ATTAACCTGCTGAAGCTCTGCTGCCCCCGGGTGAGGAGGGGCTCATGTGTGGGGAAGAGAG
864622551	222614	NM_000267.3(NF1):c.5205+5G>A	NF1	Oct 05, 2015	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31326257	ACAAAGACACCAAAGTTTCTATTAAAGTAAGTTCCAGTCTGTGTTTTGTAAACGATTCATT
886039338	260318	NM_000397.3(CYBB):c.1449G>A (p.Trp483Ter)	CYBB	Jun 27, 2016	MedGen:CN517202	not provided	germline	X	37806521	CCTCAGCTACAACATCTACCTCACTGGCTGGGATGAGTCTCAGGTAAGGACAAGACTCCAA
120074184	18162	NM_000218.2(KCNQ1):c.940G>A (p.Gly314Ser)	KCNQ1	Nov 09, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 1;not provided	germline	11	2583453	CTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGG
72549332	31353	NM_001002294.2(FMO3):c.1302G>A (p.Met434Ile)	FMO3	Dec 01, 2000	Human Phenotype Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED CT:237959005	Trimethylaminuria	germline	1	171117145	GACCATACAGACAGATTACATTGTTTATATGGATGAACTCTCCTCCTTCATTGGGGCAAAG
886041296	432176	NM_000444.5(PHEX):c.1768+1G>A	PHEX	Jun 12, 2017	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22219104	ATGAATTTACACATGGATTTGATAATAATGGTAAGTACCGGTTCATTTTATAAGCTGCTGC
730882175	181517	NM_002238.3(KCNH1):c.1405G>A (p.Gly469Arg)	KCNH1	Nov 16, 2017	Gene:353173,MedGen:CN032818,OMIM:135500;MedGen:CN517202	Zimmermann-Laband syndrome 1;not provided	de novo;germline	1	210804143	CCTCTAGCACTTCTCTATGCCACCATCTTCGGGAATGTGACGACTATTTTCCAACAGATGT
121918179	15939	NM_000181.3(GUSB):c.1521G>A (p.Trp507Ter)	GUSB	Apr 01, 1995	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65967863	TGTGATCTGTTTGAACAGCTACTACTCTTGGTATCACGACTACGGGCACCTGGAGTTGATT
527236154	152923	NM_001194958.2(KCNJ18):c.502G>A (p.Val168Met)	KCNJ18	Jul 31, 2014	MedGen:C0268446,OMIM:188580,Orphanet:ORPHA79102,SNOMED CT:30967002	Thyrotoxic periodic paralysis	germline	17	21703288	GCCGTCTTCATGGTGGTGGCCCAGTCCATCGTGGGCTGCATCATCGACTCCTTCATGATTG
80356611	45094	NM_000525.3(KCNJ11):c.149G>A (p.Arg50Gln)	KCNJ11	Aug 30, 2016	MedGen:C0158981,Orphanet:ORPHA224,SNOMED CT:49817004;MedGen:CN517202	Neonatal diabetes mellitus;not provided	germline	11	17387943	GCAACTGCAACGTGGCCCACAAGAACATCCGGGAGCAGGGCCGCTTCCTGCAGGACGTGTT
121917775	27238	NM_003380.3(VIM):c.451G>A (p.Glu151Lys)	VIM	Mar 15, 2009	MedGen:C3805411,OMIM:116300;MedGen:CN517202	Cataract 30;not provided	germline	10	17229873	CAAGGCAAGTCGCGCCTGGGGGACCTCTACGAGGAGGAGATGCGGGAGCTGCGCCGGCAGG
121912832	32469	NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)	COL7A1	Jan 07, 2016	MedGen:C0268371,OMIM:132000,SNOMED CT:2689001;MedGen:CN517202	Dominant dystrophic epidermolysis bullosa with absence of skin;not provided	germline	3	48575512	CAGGGCCCCATCGGCTTTCCTGGAGAACGCGGGCTGAAGGGCGACCGTGGAGACCCTGGCC
16969925	75309	NM_001037.4(SCN1B):c.254G>A (p.Arg85His)	SCN1B	Feb 20, 2017	MedGen:C3809311,OMIM:615377;MedGen:CN517202	Atrial fibrillation, familial, 13;not provided	germline	19	35033545	ATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAG
587777060	77876	NM_080860.3(RSPH1):c.308G>A (p.Gly103Asp)	RSPH1	Sep 05, 2013	MedGen:C3809634,OMIM:615481	Primary ciliary dyskinesia 24	germline	21	42486428	AGTGGGCAAATGACCTGCGGCACGGCCATGGCGTATACTACTACATCAATAATGACACCTA
387906721	38932	NM_194277.2(FRMD7):c.812G>A (p.Cys271Tyr)	FRMD7	Mar 01, 2011	MedGen:C1839580,OMIM:310700	Infantile nystagmus, X-linked	germline	X	132082456	GAGATGCCTGCAAGGCTTTCTGGAAGACTTGTGTGGAATACCATGCTTTCTTCAGGCTTTC
137852336	25437	NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD JAPAN	germline	X	154532625	TGTACACCAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGAGTCGGAGCT
137854478	31496	NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys)	FBN1	Apr 28, 2017	MedGen:C2697932,Orphanet:ORPHA60030,SNOMED CT:446263001;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C4016054;MedGen:CN517202;MedGen:CN169374	Loeys-Dietz syndrome;Marfan syndrome;Marfan syndrome, neonatal;not provided;not specified	germline	15	48488233	GCCACTTGCTGTTTTTGTGCAGACATTGACGAATGCCGCATATCTCCTGACCTCTGTGGCA
121434452	22314	NM_003321.4(TUFM):c.1016G>A (p.Arg339Gln)	TUFM	Jan 01, 2007	MedGen:C1857682,OMIM:610678,Orphanet:ORPHA254925	Combined oxidative phosphorylation deficiency 4	germline	16	28844008	TCCGAGGCTTGAAGCGGGAGGACTTGCGGCGGGGCCTGGTCATGGTCAAGCCAGGTTCCAT
-1	439862	NM_032861.3(SERAC1):c.1577G>A (p.Gly526Glu)	SERAC1	-	MedGen:C3553597,OMIM:614739,Orphanet:ORPHA352328	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	germline	6	158114896	AAATGAGTACTGTTATCAACAATACCAGAGGAATAATTTTTTATAGTGTCCCTCATCATGG
587776789	409030	NM_000321.2(RB1):c.607+1G>A	RB1	Jan 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	13	48349024	TTTCTTGGATCACATTTTTATTAGCTAAAGGTAAGTTCATTATATTTATTAAATGCTAATA
104893991	24341	NM_001024630.3(RUNX2):c.674G>A (p.Arg225Gln)	RUNX2	Nov 01, 1999	MedGen:C0008928,OMIM:119600,Orphanet:ORPHA1452,SNOMED CT:65976001	Cleidocranial dysostosis	germline	6	45438040	GAGCAATTAAAGTTACAGTAGATGGACCTCGGGAACCCAGAAGTAAGTACTCCCCTTTTTA
878854181	242121	NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter)	FANCI	Jan 30, 2016	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002	Fanconi anemia	germline	15	89263422	ATAAACTTTGTCATTTTCTTCTACCAGGTGGGATCAGCAATATGTAATCCAACTCACCTCC
267607850	95328	NM_000249.3(MLH1):c.1731+5G>A	MLH1	Oct 31, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37042336	CCAATTTTGGTGTTCTCAGGTTATCGGTAAGTTTAGATCCTTTTCACTTCTGAAATTTCAA
397515438	50319	NM_032801.4(JAM3):c.656G>A (p.Cys219Tyr)	JAM3	Apr 08, 2013	MedGen:C3151000,OMIM:613730,Orphanet:ORPHA306547	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	germline	11	134145989	TTCACAAGGACGACTCTGGGCAGTACTACTGCATTGCTTCCAATGACGCAGGCTCAGCCAG
118192233	203731	NM_172107.3(KCNQ2):c.1632-1G>A	KCNQ2	Jul 26, 2013	MedGen:CN517202	not provided	germline	20	63413582	AGGGCTCACAGCCCCACCCACCCCCCTGCAGTGTCATGCGGTTCCTGGTGTCCAAGCGGAA
886041223	264979	NM_000444.5(PHEX):c.733-1G>A	PHEX	Jul 16, 2016	MedGen:CN517202	not provided	germline	X	22093982	TCATGGTCACTTTGTTCTTTATTTCTTACAGTATCGGGATGCCCTTTACAAGTTCATGGTG
121918166	15994	NM_000275.2(OCA2):c.1327G>A (p.Val443Ile)	OCA2	May 18, 2017	MedGen:C0078918,Orphanet:ORPHA55,SNOMED CT:63844009;MedGen:C1856895,OMIM:227220;MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006;MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006;MedGen:CN517202	Oculocutaneous albinism;Skin/hair/eye pigmentation, variation in, 1;Tyrosinase-positive oculocutaneous albinism;Tyrosinase-positive oculocutaneous albinism;not provided	germline;paternal;unknown	15	27985101	GCGGCCGTCCTCTCTGCCTTCTTGGACAACGTCACCACCATGCTCCTCTTCACGCCTGTGA
74315334	22991	NM_000261.1(MYOC):c.1099G>A (p.Gly367Arg)	MYOC	Aug 16, 2016	MedGen:C1842028,OMIM:137750;MedGen:CN517202	Primary open angle glaucoma juvenile onset 1;not provided	germline	1	171636341	GAGAAGGAAATCCCTGGAGCTGGCTACCACGGACAGTTCCCGTATTCTTGGGGTGGCTACA
104894584	23966	NM_000891.2(KCNJ2):c.514G>A (p.Asp172Asn)	KCNJ2	Apr 15, 2005	MedGen:C1865018,OMIM:609622;MedGen:C2348199,Orphanet:ORPHA51083	Short QT syndrome 3;short QT syndrome	germline	17	70175553	GTGTTCCAGTCAATCGTGGGCTGCATCATCGATGCTTTCATCATTGGCGCAGTCATGGCCA
104894154	16842	NM_000102.3(CYP17A1):c.374G>A (p.Arg125Gln)	CYP17A1	Oct 01, 2006	MedGen:CN042980	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102835316	CTGACTCTGGCGCACACTGGCAGCTGCATCGAAGGCTGGCGATGGCCACCTTTGCCCTGTT
397515343	17823	NM_000158.3(GBE1):c.143+1G>A	GBE1	Apr 02, 2009	MedGen:CN734586;MedGen:C0017923,OMIM:232500,SNOMED CT:11179002	Glycogen storage disease IV, fatal perinatal neuromuscular;Glycogen storage disease, type IV	germline	3	81761374	GAAGCCCTACGCCGTGGACTTCCAGCGCAGGTACCGCCGGAATCCCACCACCCCCACTTAG
104894295	22393	NM_006918.4(SC5D):c.86G>A (p.Arg29Gln)	SC5D	Oct 01, 2002	MedGen:C1846421,OMIM:607330,Orphanet:ORPHA46059	Lathosterolosis	germline	11	121303461	CAGCCACATGGCCAGAAGATGACATCTTCCGACAAGCTATTAGTCTTCTGATTGTAACAAA
1064796316	410870	NM_001396.4(DYRK1A):c.1546+1G>A	DYRK1A	Feb 10, 2017	MedGen:CN517202	not provided	germline	21	37505590	GCACCACCTCCAGTACATCGTCAAGCTCAGGTCTGTGCTGCTGCGGTTAGATTAGGCTTGG
28937868	20723	NM_001169109.1(SCO2):c.398G>A (p.Cys133Tyr)	SCO2	Mar 15, 2004	MedGen:C1858424,OMIM:604377,Orphanet:ORPHA1561	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	germline	22	50524014	GGGTGCTGATGTACTTTGGCTTCACTCACTGCCCTGACATCTGCCCAGACGAGCTGGAGAA
149898884	440104	NM_153717.2(EVC):c.1500G>A (p.Met500Ile)	EVC	Jun 01, 2017	MedGen:CN239258	Ellis-van Creveld Syndrome	paternal	4	5756299	TCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTC
587784024	168496	NM_133433.3(NIPBL):c.6893G>A (p.Arg2298His)	NIPBL	Aug 28, 2017	MedGen:CN029798,OMIM:122470;MedGen:CN517202	Cornelia de Lange syndrome 1;not provided	germline	5	37049240	AGGCATTTTTTCACACCCAGTCAAGTGTACGCCACTTTGCCCTAAATGTCATTGCATTGAC
879255702	247720	NM_014191.3(SCN8A):c.2668G>A (p.Ala890Thr)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51765794	CTGGTGCTGGCCATTATTGTCTTCATCTTTGCCGTGGTGGGGATGCAACTCTTTGGAAAAA
72656338	413978	NM_000088.3(COL1A1):c.3655G>A (p.Asp1219Asn)	COL1A1	-	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	unknown	17	50186799	GCTCACGATGGTGGCCGCTACTACCGGGCTGATGATGCCAATGTGGTTCGTGACCGTGACC
72656356	457676	NM_000089.3(COL1A2):c.279G>A (p.Met93Ile)	COL1A2	Jun 19, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94401620	AAAAGGAGTTGGACTTGGCCCTGGACCAATGGTATGCTTATCTGTTTATCTTAGCCAAAAA
724160001	172124	NM_153818.1(PEX10):c.992G>A (p.Arg331Gln)	PEX10	Jan 12, 2015	MedGen:C3553948,OMIM:614871	Peroxisome biogenesis disorder 6B	germline	1	2405815	CCTCTCCGCAGGCGGAGTGTCCCCTCTGCCGGGAGAAGTTCCCTCCCCAGAAGCTCATCTA
587777527	143259	NM_000982.3(RPL21):c.95G>A (p.Arg32Gln)	RPL21	Jul 01, 2011	MedGen:C4014563,OMIM:615885	Hypotrichosis 12	germline	13	27254247	TAGGAGTTGTTCCTTTGGCCACATATATGCGAATCTATAAGAAAGGTGATATTGTAGACAT
80358279	21288	NM_004700.3(KCNQ4):c.886G>A (p.Gly296Ser)	KCNQ4	Feb 17, 2011	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	germline	1	40819926	TATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTAC
1064792869	224764	NM_001257989.1(TYMP):c.715G>A (p.Ala239Thr)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50527215	GCTCTGGTGGTGGACGTTAAGTTCGGAGGGGCCGCCGTCTTCCCCAACCAGGAGCAGGCCC
121917845	23146	NM_006261.4(PROP1):c.582G>A (p.Trp194Ter)	PROP1	Jun 14, 2016	MedGen:C0878683,OMIM:262600	Pituitary hormone deficiency, combined 2	germline;unknown	5	177992808	CTTTGCTTTGTCACACCAGTCTGAGGACTGGTACCCTACCTTGCACCCAGCCCCTGCCGGC
557052809	170988	NM_152296.4(ATP1A3):c.2263G>A (p.Gly755Ser)	ATP1A3	May 04, 2014	MedGen:C3553788,OMIM:614820	Alternating hemiplegia of childhood 2	de novo	19	41975629	TTTGCCTCCATCGTCACAGGGGTGGAGGAGGGTGAGTTGGCCAGGGGTGGCCCTGGAGACC
5030855	15646	NM_000277.2(PAH):c.1066-11G>A	PAH	Oct 20, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102843790	TGATTTAACAGTGATAATAACTTTTCACTTGGGGCCTACAGTACTGCTTATCAGAGAAGCC
876657731	228337	NM_206933.2(USH2A):c.5776+1G>A	USH2A	Feb 06, 2017	MedGen:C1848634,OMIM:276901;MedGen:CN517202	Usher syndrome, type 2A;not provided	germline	1	216073096	TTTACGAGGGTGGTCTCCAGCCTTTTACAGGTAATGTGGAGGTCCTCTAAATTAAATGTTA
-1	442109	NM_000435.2(NOTCH3):c.3296G>A (p.Cys1099Tyr)	NOTCH3	Jun 12, 2015	MedGen:CN517202	not provided	germline	19	15180103	TGGCCCAGCCCTGCCAGCATGGGGGGACCTGCCGTGGCTATATGGGGGGCTACATGTGTGA
397515402	48192	NM_020822.2(KCNT1):c.1283G>A (p.Arg428Gln)	KCNT1	Oct 26, 2016	MedGen:C3554195,OMIM:614959;MedGen:C3554306,OMIM:615005;MedGen:CN517202	Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided	germline	9	135765706	GAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAA
587779568	107025	NM_000090.3(COL3A1):c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005462	GTACAGCTGGTGAACCTGGAAGAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGGTAGA
774528745	264095	NM_181457.3(PAX3):c.812G>A (p.Arg271His)	PAX3	Sep 07, 2016	MedGen:CN517202	not provided	germline	2	222221368	TAAATCCATAGGTCTGGTTTAGCAACCGCCGTGCAAGATGGAGGAAGCAAGCTGGGGCCAA
267606818	31298	NM_182925.4(FLT4):c.2569G>A (p.Gly857Arg)	FLT4	Jun 01, 2000	MedGen:C1704423,OMIM:153100,Orphanet:ORPHA79452,SNOMED CT:399889006	Hereditary lymphedema type I	germline	5	180619743	ACAGGGAGAGTGCTCGGCTACGGCGCCTTCGGGAAGGTGGTGGAAGCCTCCGCTTTCGGCA
80358079	70118	NM_007294.3(BRCA1):c.5194-12G>A	BRCA1	Jul 25, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43057147	CTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAG
377015931	176480	NM_016239.3(MYO15A):c.8714-1G>A	MYO15A	Mar 07, 2016	MedGen:C1838263,OMIM:600316;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 3;Nonsyndromic hearing loss and deafness	germline;paternal	17	18157155	TGGCAGATGCTGACCCGAGCCTGGCCCATAGGCTACAGTGCTGGCTGCGTGGTTCGCAGGA
863223409	210223	NM_000020.2(ACVRL1):c.152G>A (p.Cys51Tyr)	ACVRL1	Apr 14, 2015	MedGen:CN517202	not provided	germline	12	51913189	GCAAGGGGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGTGCGGGAGGAGGGGAG
1114167415	424604	NM_000089.3(COL1A2):c.3089G>A (p.Gly1030Asp)	COL1A2	-	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	unknown	7	94426514	CTGGCTTAAAGGGACACAATGGATTGCAAGGTCTGCCTGGTATCGCTGTAAGTAAACTGTA
193922423	44442	NM_000388.3(CASR):c.1525G>A (p.Gly509Arg)	CASR	Aug 18, 2011	MedGen:C0342637,Orphanet:ORPHA405,SNOMED CT:190868007	Familial hypocalciuric hypercalcemia	germline	3	122275959	GAGGATGGCTCCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCCAAGAAGGGAG
121912935	32211	NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp)	COL6A1	Feb 26, 2002	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	21	45990792	CCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTT
74315355	17443	NM_032409.2(PINK1):c.926G>A (p.Gly309Asp)	PINK1	Sep 26, 2017	MedGen:C1853833,OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	germline	1	20644639	TGCCCTCACGCCTCCACCCTGAAGGCCTGGGCCATGGCCGGACGCTGTTCCTCGTTATGAA
62508730	108540	NM_000277.2(PAH):c.722G>A (p.Arg241His)	PAH	Nov 06, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852935	TTCTTTTCATCCCAGCTTGCACTGGTTTCCGCCTCCGACCTGTGGCTGGCCTGCTTTCCTC
45517404	59105	NM_000548.4(TSC2):c.5161-1G>A	TSC2	Oct 17, 2016	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2088226	TAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCC
587777437	139391	NM_000890.4(KCNJ5):c.452G>A (p.Gly151Glu)	KCNJ5	Feb 14, 2012	MedGen:C3150933,OMIM:613677,Orphanet:ORPHA251274	Familial hyperaldosteronism type 3	germline	11	128911725	TGTTCTCCATTGAGACCGAAACAACCATTGGGTATGGCTTCCGAGTCATCACAGAGAAGTG
121908764	22251	NM_000492.3(CFTR):c.3611G>A (p.Trp1204Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117627664	AGAATTCACACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGA
121434395	21195	NM_004621.5(TRPC6):c.2689G>A (p.Glu897Lys)	TRPC6	Jul 01, 2005	MedGen:C1858915,OMIM:603965	Focal segmental glomerulosclerosis 2	germline	11	101453062	ATTAAGCAGGACATCTCAAGTCTCCGCTATGAACTCCTTGAAGAAAAATCTCAGAATACAG
-1	481353	NM_001844.4(COL2A1):c.1979G>A (p.Gly660Glu)	COL2A1	Oct 12, 2017	MedGen:C0220685,OMIM:200610,Orphanet:ORPHA93296	Achondrogenesis, type II	de novo	12	47983699	CTGGTGAACGAGGCGAGCAGGGTGCTCCTGGGCCATCTGGGTTCCAGGTAGGTGGCTGGAC
267607220	20725	NM_002334.3(LRP4):c.1585G>A (p.Asp529Asn)	LRP4	May 14, 2010	MedGen:C1859309,OMIM:212780,Orphanet:ORPHA3258	Syndactyly Cenani Lenz type	germline	11	46893085	GATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCACCTCGAGGATTGAGGTGGCCA
587779641	107119	NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988600	TTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCA
577442939	108190	NM_001040147.2(SERPINB7):c.455-1G>A	SERPINB7	Oct 01, 2014	MedGen:C3810072,OMIM:615598,Orphanet:ORPHA140966	Palmoplantar keratoderma, nagashima type	germline	18	63798603	AACATTTTTCCCTCAATTTTTTTTTCAAAAGGCAAAATCAAGAACGTGATTGGTGAAGGTG
80359205	67482	NM_000059.3(BRCA2):c.9317G>A (p.Trp3106Ter)	BRCA2	Nov 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome	germline	13	32394749	AATGTTACAATTTACTGGCAATAAAGTTTTGGATAGACCTTAATGAGGACATTATTAAGCC
397508158	67858	NM_000492.3(CFTR):c.1116+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117540347	GACTCTCTTGGAGCAATAAACAAAATACAGGTAATGTACCATAATGCTGCATTATATACTA
-1	446699	NM_001111125.2(IQSEC2):c.2749+1G>A	IQSEC2	Feb 12, 2016	MedGen:CN517202	not provided	germline	X	53246968	AACTAGATGACTTCATCAAGAACCTGAGAGGTGACTTCCCTGTCAGCTTTTCCTGCCCTTC
879254096	245181	NM_000166.5(GJB1):c.231G>A (p.Trp77Ter)	GJB1	Mar 28, 2016	MedGen:CN517202	not provided	germline	X	71223938	ATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCA
587783544	169903	NM_178151.2(DCX):c.364G>A (p.Gly122Arg)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410035	AAGATCGGAAGCATGGATGAACTGGAGGAAGGTAATTTAAATAGTGGGTGGTGGCCGTTGG
397517904	244219	NM_170707.3(LMNA):c.513+1G>A	LMNA	Apr 21, 2015	MedGen:CN517202	not provided	germline	1	156130774	CTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGC
1057520779	371844	NM_000545.6(HNF1A):c.686G>A (p.Arg229Gln)	HNF1A	Jul 02, 2015	MedGen:CN517202	not provided	germline	12	120993679	AGAGGCAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAGGTA
587783810	169972	NM_000252.2(MTM1):c.231+1G>A	MTM1	Feb 07, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001;MedGen:CN517202	Severe X-linked myotubular myopathy;not provided	germline	X	150598687	TATCGTCTTTATTTAAGAAGTTTGGAAACGGTAAGTAGAATATAAGACCATAAAGATGACC
1060502433	399870	NM_000059.3(BRCA2):c.7722G>A (p.Trp2574Ter)	BRCA2	Aug 08, 2017	MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32357846	TGAAGATTATTTTGGTAAGGAAAGTTTATGGACTGGAAAAGGAATACAGTTGGCTGATGGT
794728589	196457	NM_170707.3(LMNA):c.356+1G>A	LMNA	Apr 24, 2016	MedGen:CN517202	not provided	germline	1	156115275	GCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGC
587777808	17570	NM_144596.3(TTC8):c.624+1G>A	TTC8	Jan 01, 2006	MedGen:C1859566,OMIM:615985	Bardet-Biedl syndrome 8	germline	14	88843851	ATCTTTCATCATGAAAATGATGTTAAGACTGTAAGTTTTGAATTCATGCTATTTTCTTTTA
-1	433499	NM_004006.2(DMD):c.7899G>A (p.Trp2633Ter)	DMD	Sep 12, 2016	MedGen:CN169374	not specified	germline	X	31658118	ATAGCAGTTGGCCAAAGACCTCCGCCAGTGGCAGACAAATGTAGATGTGGCAAATGACTTG
1057519044	361713	NM_000141.4(FGFR2):c.1013G>A (p.Gly338Glu)	FGFR2	Sep 17, 2016	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008	Crouzon syndrome	germline	10	121517390	ATATTCGGAATGTAACTTTTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTAT
199472751	67813	NM_000218.2(KCNQ1):c.949G>A (p.Asp317Asn)	KCNQ1	Jun 23, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;not provided	germline	11	2583462	CAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGA
748634900	183426	NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser)	ATM	Apr 06, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108343246	CTCCAGGTGGTTCCCCTCTCTCAGCGAAGTGGTGTTCTTGAATGGTGCACAGGAACTGTCC
766952056	408769	NM_025114.3(CEP290):c.3461+1G>A	CEP290	Sep 22, 2017	MedGen:CN517202	not provided	germline	12	88092680	TGAAATGGAACTAAAAGTTGAAGTGTCAAAGTAAGTGCATATAAGCATTTTAGCCATTTGA
794727199	191974	NM_000321.2(RB1):c.1696-1G>A	RB1	Jan 07, 2015	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	germline	13	48452992	TGTGGTTTTAATTTCATCATGTTTCATATAGGATTCACCTTTATTTGATCTTATTAAACAA
863225081	214562	NM_006245.3(PPP2R5D):c.589G>A (p.Glu197Lys)	PPP2R5D	Oct 17, 2015	MedGen:CN517202	not provided	germline	6	43007262	TCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTT
118192115	76848	NM_000540.2(RYR1):c.644G>A (p.Gly215Glu)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38446484	TCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACA
1006246556	414360	NM_001204.6(BMPR2):c.2588G>A (p.Ser863Asn)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202556253	GTGAGGACACCCGGCTGAATATTAATTCCAGTCCTGATGAGCATGAGCCTTTACTGAGACG
121913529	27621	NM_004985.4(KRAS):c.35G>A (p.Gly12Asp)	KRAS	Mar 06, 2018	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED CT:372142002;Human Phenotype Ontology:HP:0002408,MedGen:C0917804,OMIM:108010,SNOMED CT:234142008;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003;MedGen:C0265318,OMIM:163200,SNOMED CT:239112008;Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C0684249,OMIM:211980,SNOMED CT:187875007;Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;MedGen:C0853032;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MeSH:D010051,MedGen:CN236629;MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Acute myeloid leukemia;Carcinoma of pancreas;Cerebral arteriovenous malformation;Colorectal Neoplasms;Epidermal nevus;Epidermal nevus syndrome;Juvenile myelomonocytic leukemia;Lung cancer;Neoplasm of ovary;Neoplasm of stomach;Neoplasm of the thyroid gland;Nevus sebaceous;Non-small cell lung cancer;Ovarian Neoplasms;RAS-associated autoimmune leukoproliferative disorder;Rasopathy;not provided	germline;somatic	12	25245350	CTGAATATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAGGCAAGAGTGCCTTGACGATACA
1064793885	407293	NM_014112.4(TRPS1):c.2421G>A (p.Trp807Ter)	TRPS1	Aug 13, 2015	MedGen:CN517202	not provided	germline	8	115587280	TTCCAGTGATGACCTTCGCAATGTGACTTGGAGAGGGGCAGACATCCTGCGGGGGAGTCCG
60687604	22650	NM_001320198.1(KRT86):c.1204G>A (p.Glu402Lys)	KRT86	Jan 01, 2009	MedGen:C0546966,OMIM:158000,Orphanet:ORPHA573,SNOMED CT:69488000;MedGen:CN517202	Beaded hair;not provided	germline	12	52306237	GTGATGAACTCCAAGCTGGGCCTGGACATCGAGATCGCCACCTACAGGCGCCTGCTGGAGG
1057520620	368570	NM_022455.4(NSD1):c.6010-1G>A	NSD1	Apr 21, 2015	MedGen:CN517202	not provided	germline	5	177283786	GTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGA
121908112	19229	NM_018972.2(GDAP1):c.92G>A (p.Trp31Ter)	GDAP1	Jan 01, 2002	MedGen:C1859198,OMIM:214400,Orphanet:ORPHA99948	Charcot-Marie-Tooth disease, type 4A	germline	8	74350553	ACGCGGAGGTTAAGCTCATTCTGTACCATTGGACGCATTCCTTCAGCTCTCAAAAGGTACA
387906624	38653	NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr)	FBN1	Jan 04, 2018	MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED CT:254090007;MedGen:C3280054,OMIM:614185	Acromicric dysplasia;Geleophysic dysplasia 2	germline	15	48463124	ATGTGCTGCTGTTCCTACAACATTGGCCGGGCGTGGAACAAGCCCTGTGAACAGTGTCCCA
781194178	214862	NM_016218.3(POLK):c.1692G>A (p.Lys564=)	POLK	Mar 05, 2014	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75596385	GTTTGTAAAACCTCTAGAAATGTCTCATAAGAAGAGTTTCTTTGATAAAAAACGATCAGAA
879255509	17934	NM_000419.4(ITGA2B):c.1544+1G>A	ITGA2B	Sep 01, 2011	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44380385	CCTACCTCAGACCAAGACACCCGTGAGCTGGTGAGGAGGCAGAGGGCATGGGCCTTAAAGG
398123107	98233	NM_000033.3(ABCD1):c.1802G>A (p.Trp601Ter)	ABCD1	Jul 07, 2014	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153743008	CCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCA
587778850	132315	NM_000321.2(RB1):c.2520+1G>A	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48473391	ATCTTAGTATCAATTGGTGAATCATTCGGGGTGAGTATTTTCTTTCTATGAAATATAATAG
786204242	186159	NM_130799.2(MEN1):c.3G>A (p.Met1Ile)	MEN1	Sep 07, 2016	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Multiple endocrine neoplasia, type 1	germline;unknown	11	64810107	TGCAGGCCGCCGCCCACCGCCCGCCGCCATGGGGCTGAAGGCCGCCCAGAAGACGCTGTTC
121913349	359643	NM_004333.4(BRAF):c.1390G>A (p.Gly464Arg)	BRAF	Sep 24, 2015	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MedGen:CN517202	Malignant melanoma;not provided	germline;somatic	7	140781618	GATGGGCAGATTACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGG
132630299	26105	NM_001015877.1(PHF6):c.134G>A (p.Cys45Tyr)	PHF6	Dec 01, 2002	MedGen:C0265339,OMIM:301900,SNOMED CT:21634003	Borjeson-Forssman-Lehmann syndrome	germline	X	134377751	AAAACCAGAAGGTGGCAGCGCACCATAAGTGCATGGTAAGTATACCGGCAGCAACAGAGAC
74315511	20720	NM_005138.2(SCO2):c.418G>A (p.Glu140Lys)	SCO2	Sep 08, 2017	MedGen:C1858424,OMIM:604377,Orphanet:ORPHA1561;MedGen:C1837148,OMIM:608908;MedGen:CN517202	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;Myopia 6;not provided	germline;inherited	22	50523994	TTCACTCACTGCCCTGACATCTGCCCAGACGAGCTGGAGAAGCTGGTGCAGGTGGTGCGGC
121912586	17476	NM_001173464.1(KIF21A):c.2861G>A (p.Arg954Gln)	KIF21A	Mar 01, 2008	MedGen:C1851102,OMIM:135700;MedGen:C2751105	Fibrosis of extraocular muscles, congenital, 1;Fibrosis of extraocular muscles, congenital, 3b	germline	12	39332404	TAAAATCCAACCTGCTTTCTCAATAGCAACGGGAGGAACTCACAAAAAGACGAGAGAAACT
62641229	362314	NM_017929.5(PEX26):c.296G>A (p.Trp99Ter)	PEX26	Feb 07, 2017	MedGen:C3539168,OMIM:614872	Peroxisome biogenesis disorder 7A	germline	22	18079939	GGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTA
121434635	24119	NM_024420.2(PLA2G4A):c.1454G>A (p.Arg485His)	PLA2G4A	Jun 01, 2008	MedGen:C4016672	Phospholipase a2, group IV a, deficiency of	germline	1	186956219	ATTCAGCTTTATTCAATACCAGAGAAGGACGTGCTGGGAAGGTACACAACTTCATGCTGGG
398122919	48449	NM_001170961.1(IGSF1):c.2931G>A (p.Trp977Ter)	IGSF1	Dec 01, 2012	MedGen:C3550963,OMIM:300888,Orphanet:ORPHA329235	Hypothyroidism, central, and testicular enlargement	germline	X	131275746	TCTCTTTCTAGACACATTCCCTAAGCCATGGTTGTTTGCTGAGCCCAGTTCTGTGGTTCCC
80358044	69923	NM_007294.3(BRCA1):c.4675+1G>A	BRCA1	Jul 10, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline	17	43074330	AAACATCTTACTTGCCAAGGCAAGATCTAGGTAATATTTCATCTGCTGTATTGGAACAAAC
121434229	18460	NM_006147.3(IRF6):c.134G>A (p.Arg45Gln)	IRF6	Jan 01, 2003	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209801280	GCTTCCAGATTCCCTGGAAACATGCCACCCGGCATAGCCCTCAACAAGAAGAGGAAAATAC
776172237	425486	NM_000183.2(HADHB):c.254+1G>A	HADHB	May 30, 2017	MedGen:CN517202	not provided	germline	2	26269998	GCCACATGATTTGGCTAGAGCAGCGCTTACGTAAGTAAATGCAGTTTCATTTCCGTTCTTA
80356702	32581	NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1	Nov 04, 2016	MedGen:C2936781,OMIM:160800,SNOMED CT:57938005;MedGen:C0751360,OMIM:255700,SNOMED CT:20305008;MedGen:C0027127,Orphanet:ORPHA206973;MedGen:CN517202	Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form;Myotonia congenita;not provided	germline	7	143330868	TTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGAACAAGGATGCTGG
28929495	31651	NM_005228.4(EGFR):c.2155G>A (p.Gly719Ser)	EGFR	Mar 10, 2016	MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MedGen:C4016032;MedGen:CN225347	Colorectal Neoplasms;Non-small cell lung cancer;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic;Tyrosine kinase inhibitor response	somatic	7	55174014	GAAACTGAATTCAAAAAGATCAAAGTGCTGGGCTCCGGTGCGTTCGGCACGGTGTATAAGG
199474671	24593	m.5549G>A	MT-TW	Mar 01, 1995	Human Phenotype Ontology:HP:0006789,MedGen:C1852373	Encephalopathy, mitochondrial	germline	MT	5549	TAGGTTAAATACAGACCAAGAGCCTTCAAAGCCCTCAGTAAGTTGCAATACTTAATTTCTG
797044973	204604	NM_000143.3(FH):c.905-1G>A	FH	Feb 01, 2016	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523	Hereditary cancer-predisposing syndrome;Multiple cutaneous leiomyomas	germline	1	241504246	CACCCATCTAGGATATTTTTCTTTTCTTTAGGCTTGCCTTTTGTCACTGCTCCGAATAAAT
1135401748	424704	NM_002047.3(GARS):c.929G>A (p.Arg310Gln)	GARS	-	na	GARS-associated growth retardation and developmental delay	germline;not applicable	7	30612143	CTGCACAGGGGATTTTCTTGAATTTCAAACGACTTTTGGAGTTCAACCAAGGAAAGTTGCC
-1	464311	NM_000138.4(FBN1):c.7112G>A (p.Trp2371Ter)	FBN1	Jan 27, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48427659	CGGAATGCTGCTGTGACGGAGGGAGAGGCTGGGGTCCCCACTGTGAGATCTGCCCTTTCCA
-1	482128	NM_000267.3(NF1):c.5943+1G>A	NF1	Nov 08, 2017	MedGen:CN517202	not provided	germline	17	31335032	CAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTA
1057517825	360483	NM_003073.4(SMARCB1):c.1121G>A (p.Arg374Gln)	SMARCB1	Mar 17, 2016	MedGen:CN517202	not provided	germline	22	23834143	CTCATTGCCCTCCCCACTCCTCTTCCAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGC
797044959	205237	NM_001615.3(ACTG2):c.770G>A (p.Arg257His)	ACTG2	May 02, 2015	MedGen:C0238062,Orphanet:ORPHA2978;MeSH:D030342,MedGen:C0950123;Human Phenotype Ontology:HP:0000021,MedGen:C1855311	Chronic intestinal pseudoobstruction;Inborn genetic diseases;Megacystis	germline	2	73914836	AGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTT
33943001	30485	NM_000518.4(HBB):c.93-1G>A	HBB	Jun 30, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:C0271980,SNOMED CT:86715000;MedGen:CN517202	beta Thalassemia;beta^0^ Thalassemia;not provided	germline	11	5226800	TCTGCCTATTGGTCTATTTTCCCACCCTTAGGCTGCTGGTGGTCTACCCTTGGACCCAGAG
119103285	17229	NM_207352.3(CYP4V2):c.181G>A (p.Gly61Ser)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	germline	4	186192004	CCCACGGTGGCCCGCGCCTACCCACTGGTGGGCCACGCGCTGCTGATGAAGCCGGACGGGC
281874673	35773	NM_000495.4(COL4A5):c.1643G>A (p.Gly548Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597432	CAGGCTTTCCTGGATCTAAAGGTGAACCTGGTGATATCCTCACTTTTCCAGGAATGAAGGG
794727620	194287	NM_000282.3(PCCA):c.232-1G>A	PCCA	Dec 02, 2014	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100111992	TATTAATAGACATTAATATATTTTAAAATAGGTTATTAGAACTTGCAAGAAGATGGGCATT
36211715	29159	NM_000257.3(MYH7):c.2609G>A (p.Arg870His)	MYH7	Aug 22, 2017	MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23424839	AAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCT
121918298	17750	NM_178443.2(FERMT3):c.687G>A (p.Trp229Ter)	FERMT3	May 07, 2009	MedGen:C2748536,OMIM:612840,Orphanet:ORPHA99844	Leukocyte adhesion deficiency, type III	germline	11	64211648	CTGACTGCTGCTTCTGCCGCGGCCCAGGTGGCTGGACTCGTCGCGGTGTCTCATGCAGCAG
747169620	441232	NM_000349.2(STAR):c.505G>A (p.Glu169Lys)	STAR	Feb 01, 2017	MedGen:CN517202	not provided	germline	8	38146108	AAGATCGGAAAAGATACATTCATTACTCACGAGCTGGCTGCCGAGGCAGCAGGAAACCTGG
121908675	21255	NM_004737.5(LARGE1):c.1525G>A (p.Glu509Lys)	LARGE1	Nov 01, 2008	MedGen:C1837229,OMIM:608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	germline	22	33304434	ATCAGCCTGGCCCTCTACCTGTCAGACGCCGAGGCCCAGCAGTTCCTCCGCTACGCACAGG
1057518269	359283	NM_018136.4(ASPM):c.2409G>A (p.Trp803Ter)	ASPM	Nov 16, 2016	MedGen:CN517202	not provided	germline	1	197133360	GTTAATTGTTCGAAAAGATAGACACCTATGGAAAGATGTGGGTAAGAAGACTGCAGAAATC
72654797	32337	NM_000088.3(COL1A1):c.3182G>A (p.Gly1061Asp)	COL1A1	Mar 01, 1990	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	unknown	17	50188555	CTGGTGCCCCTGGCCCCGTTGGCCCTGCTGGCAAGAGTGGTGATCGTGGTGAGACTGTAAG
672601342	167419	NM_015559.2(SETBP1):c.1596G>A (p.Trp532Ter)	SETBP1	Oct 01, 2014	MedGen:C4015141,OMIM:616078	Mental retardation, autosomal dominant 29	germline	18	44950936	GCATCCAAAATTTGCTGCAAAACGAAGGTGGACTTGCAGCAAACCAAAACCTAGCACCATG
121912910	32301	NM_000089.3(COL1A2):c.1504G>A (p.Gly502Ser)	COL1A2	Nov 01, 1994	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	7	94413083	TCTTTGTTTTGTTTTTCATTTTTACTCTAGGGTGATCCTGGCAAAAACGGTGATAAAGGTC
375916159	389246	NM_004452.3(ESRRB):c.787G>A (p.Gly263Ser)	ESRRB	Jun 04, 2016	MedGen:C1837857,OMIM:608565	Deafness, autosomal recessive 35	germline	14	76482759	GTCATCATTGGCTGGGCCAAGCACATCCCAGGTGAGCATGTGGGACCAGGGGAGAGTGTGG
515726176	136313	NM_000098.2(CPT2):c.1145G>A (p.Arg382Lys)	CPT2	May 15, 2014	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005	Carnitine palmitoyltransferase II deficiency	germline	1	53210819	ACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCAC
794727840	195567	NM_000203.4(IDUA):c.972+1G>A	IDUA	Nov 21, 2014	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473	Hurler syndrome	germline	4	1002162	GACGTGACCTACGCGGCCATGGTGGTGAAGGTGGGCCGGCCCAACGCCCTGCGCGCCCCCC
80358076	184933	NM_007294.3(BRCA1):c.4185+1G>A	BRCA1	Sep 12, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	43090943	TCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGT
199472895	78070	NM_000238.3(KCNH2):c.1264G>A (p.Ala422Thr)	KCNH2	Jul 31, 2012	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150952718	TGGCTCATCCTGCTGCTGGTCATCTACACGGCTGTCTTCACACCCTACTCGGCTGCCTTCC
398124032	100643	NM_004006.2(DMD):c.649+1G>A	DMD	Apr 22, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32809492	TAGGCATAGAGAAACTACTCGATCCTGAAGGTTGGTAAATTTCTGGACTACCACTGCTTTT
147649016	269651	NM_003742.2(ABCB11):c.908+1G>A	ABCB11	Jan 15, 2016	MedGen:C2608083,OMIM:605479,Orphanet:ORPHA99961;MedGen:C1866138,OMIM:601847	Benign recurrent intrahepatic cholestasis 2;Progressive familial intrahepatic cholestasis 2	germline	2	168990800	TTTTGGTGGTGAGAAAAGAGAGGTTGAAAGGTTGGTTAATTGGAATCTGATTCTTTCCTTA
863223719	209863	NM_002890.2(RASA1):c.2690+1G>A	RASA1	Feb 18, 2015	MedGen:CN517202	not provided	germline	5	87380596	AAATACCACCATGAGAACAAGAGTTGTTAGGTAAGGCTCATCAATTGATTTGTTAAATCAC
104893632	23197	NM_080916.2(DGUOK):c.679G>A (p.Glu227Lys)	DGUOK	Sep 01, 2002	MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	germline	2	73957212	GCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGT
104894453	29027	NM_000270.3(PNP):c.265G>A (p.Glu89Lys)	PNP	Feb 15, 1987	MedGen:C0268125,OMIM:613179,Orphanet:ORPHA760,SNOMED CT:60743005	Purine-nucleoside phosphorylase deficiency	germline	14	20474555	GTGATGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTAAGTCAGA
200118797	49670	NM_007055.3(POLR3A):c.3014G>A (p.Arg1005His)	POLR3A	Aug 02, 2012	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	not provided	10	77985960	CCCAGCCCCGTGTGCTGTACCAGCTGGACCGCATCACCCCCACCCAAGTAGAAAAGTTTCT
587784214	168288	NM_022455.4(NSD1):c.6656G>A (p.Arg2219His)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177294024	GGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCC
193922802	136929	NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr)	RYR1	Jun 01, 2014	MedGen:CN031421,OMIM:145600;MedGen:CN517202	Malignant hyperthermia, susceptibility to, 1;not provided	germline;unknown	19	38499655	GGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGA
587777057	77012	NM_020988.2(GNAO1):c.607G>A (p.Gly203Arg)	GNAO1	Nov 08, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3809606,OMIM:615473;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 17;not provided	de novo;germline	16	56336744	CTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGA
121918058	15107	NM_000374.4(UROD):c.499G>A (p.Glu167Lys)	UROD	Apr 01, 1991	MedGen:C0162569	Hepatoerythropoietic porphyria	germline	1	45013933	CTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGG
587780399	135187	NM_004543.4(NEB):c.3567+1G>A	NEB	Mar 31, 2014	MedGen:CN187052	Nemaline myopathy 2, autosomal recessive	germline	2	151677875	TCTAAGAACATGATGCAGATACAGAGTGATGTAAGTGTCATTTACTTCTCAAGAAACCCCC
587779650	107134	NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser)	COL3A1	Jul 28, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN118826,Orphanet:ORPHA91387	Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection	germline	2	188992202	TTCTCTTTTTAGGGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCAGTAA
1060503235	399785	NM_000020.2(ACVRL1):c.1217G>A (p.Trp406Ter)	ACVRL1	Nov 26, 2016	MedGen:C1838163,OMIM:600376	Hereditary hemorrhagic telangiectasia type 2	germline	12	51916204	CTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGG
104894705	22720	NM_024407.4(NDUFS7):c.364G>A (p.Val122Met)	NDUFS7	Sep 30, 2013	MedGen:C1838951;MedGen:CN517202	Leigh syndrome due to mitochondrial complex I deficiency;not provided	germline	19	1391006	GCCAGCCCGCGCCAGTCCGACGTCATGATCGTGGCCGGCACACTCACCAACAAGATGGCCC
121909749	31097	NM_000824.4(GLRB):c.752G>A (p.Gly251Asp)	GLRB	Oct 04, 2012	MedGen:C3553291,OMIM:614619	Hyperekplexia 2	germline	4	157143807	TCATGCCTTGAATGTGTTTGCTTCTGAAAGGCTACTACACATGCGTGGAAGTCATCTTCAC
546102223	17637	NM_058172.5(ANTXR2):c.1179G>A (p.Glu393=)	ANTXR2	Apr 01, 2012	MedGen:C2745948,OMIM:228600,SNOMED CT:238861002,SNOMED CT:238867003	Hyaline fibromatosis syndrome	germline	4	79983878	TCGAGGGGTTGGAGGAATTAAAAGAATGGAGGTTGGTATCTTAAAAAAAAATAGAAGCTGC
878855118	242347	NM_024675.3(PALB2):c.3420G>A (p.Trp1140Ter)	PALB2	Feb 23, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	16	23603600	AATCTTGACTTCTGGAACAATTGCCATTTGGGACTTACTTCTCGGTCAGTGTACTGCCCTC
61751009	150191	NM_005857.4(ZMPSTE24):c.1204-1G>A	ZMPSTE24	May 26, 2015	MedGen:CN517202	not provided	germline	1	40292444	GTGGCTAAAACCCTTTCATTTTCTTTTTCAGGTTCTTTCTTTTTGCCTAACAGTCCTAAGC
72654802	32361	NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser)	COL1A1	Jul 01, 1992	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline;maternal	17	50188122	CAGGGTCCTGCTGGTCCCGCCGGTCCTGTCGGCCCTGTTGGCGCCCGTGGCCCCGCCGTAA
1060501692	398313	NM_000051.3(ATM):c.4110-1G>A	ATM	Aug 16, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108288976	ATGACTGTATTTTTTCCCTTAACTCTGTTAGGGATTTGGATCCTGCTCCTAATCCACCTCA
111033632	24269	NM_024408.3(NOTCH2):c.1331G>A (p.Cys444Tyr)	NOTCH2	Jul 01, 2006	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629	Alagille syndrome 2	germline	1	119967555	TGAACACGGATGGCGCCTTCCACTGTGAGTGTCTGAAGGGTTATGCAGGACCTCGTTGTGA
137852275	25686	NM_000133.3(F9):c.1070G>A (p.Gly357Glu)	F9	Nov 26, 1991	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561755	AATTTGGATCTGGCTATGTAAGTGGCTGGGGAAGAGTCTTCCACAAAGGGAGATCAGCTTT
121907978	18973	NM_000520.5(HEXA):c.1360G>A (p.Gly454Ser)	HEXA	Aug 05, 2013	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72346296	GGTACCCCTGAGCAGAAGGCTCTGGTGATTGGTGGAGAGGCTTGTATGTGGGGAGAATATG
193302866	47619	NM_016938.4(EFEMP2):c.800G>A (p.Cys267Tyr)	EFEMP2	May 12, 2011	MedGen:C3280798,OMIM:614437;MedGen:CN033664,OMIM:219100	Autosomal recessive cutis laxa type 1B;Autosomal recessive cutis laxa type IA	germline	11	65868557	GCTGCATCAACGAGCCAGGCCGTTTCTCCTGCCACTGCCCACAGGGTTACCAGCTGCTGGC
863224880	213614	NM_002180.2(IGHMBP2):c.92G>A (p.Trp31Ter)	IGHMBP2	Feb 16, 2016	Human Phenotype Ontology:HP:0002169,MedGen:C0009024;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Gene:7974,Human Phenotype Ontology:HP:0001347,MedGen:C0151889,OMIM:145290;Human Phenotype Ontology:HP:0000508,MedGen:C0005745;Human Phenotype Ontology:HP:0002098,MedGen:C0476273,SNOMED CT:271825005;Human Phenotype Ontology:HP:0006829,MedGen:C1839630;MedGen:C1858517,OMIM:604320,Orphanet:ORPHA98920;Human Phenotype Ontology:HP:0002789,MedGen:C0231835	Clonus;Failure to thrive;Hyperreflexia;Ptosis;Respiratory distress;Severe muscular hypotonia;Spinal muscular atrophy, distal, autosomal recessive, 1;Tachypnea	germline	11	68906074	AGCATCAATACCGGGTGTCTTCCAGGTCCTGGCAGGAGAACATCTCTCTGAAAGAGCTCCA
587779609	405509	NM_000090.3(COL3A1):c.3499G>A (p.Gly1167Ser)	COL3A1	Aug 04, 2015	MedGen:CN517202	not provided	germline	2	189008116	CCAGGTCCCATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGGTAA
387907281	45778	NM_152296.4(ATP1A3):c.2443G>A (p.Glu815Lys)	ATP1A3	Oct 26, 2017	MedGen:C3553788,OMIM:614820;MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517;MedGen:CN517202	Alternating hemiplegia of childhood 2;Dystonia 12;not provided	de novo;germline	19	41970284	GCCTAGGTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGAC
864309492	215008	NM_001615.3(ACTG2):c.593G>A (p.Gly198Asp)	ACTG2	Mar 27, 2014	MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241	Visceral myopathy	de novo	2	73913626	ACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCC
606231284	167467	NM_021102.3(SPINT2):c.502G>A (p.Gly168Ser)	SPINT2	Mar 01, 2014	MedGen:C2678346	Diarrhea 3, secretory sodium, congenital, syndromic	germline	19	38290229	TGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCTGAGGAGG
137853207	32848	NM_001082971.1(DDC):c.304G>A (p.Gly102Ser)	DDC	Jul 06, 2010	MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004	Deficiency of aromatic-L-amino-acid decarboxylase	germline	7	50539926	GACATGCTGTGCGGGGCCATTGGCTGCATCGGCTTCTCCTGGGTGAGGGTCCGGATGCACC
151340625	26840	NM_001127899.3(CLCN5):c.1727G>A (p.Gly576Glu)	CLCN5	Feb 01, 1996	MedGen:C4016445	Nephrolithiasis, X-linked recessive	germline	X	50088867	GCATCACCCCCGGCCTTTATGCAATGGTTGGGGCTGCAGCCTGCTTAGGTGAGTAGTGTTT
776814755	422005	NM_000275.2(OCA2):c.2330G>A (p.Cys777Tyr)	OCA2	Sep 03, 2015	MedGen:CN517202	not provided	germline	15	27851390	CGCTCATGTATGCCCTGGCCTTCGGTGCTTGCCTGGGAGGTAAGGGGCTGCTGACTGCATG
587779685	107191	NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999569	AGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAA
587779777	132670	NM_001101.4(ACTB):c.625G>A (p.Val209Met)	ACTB	Apr 15, 2014	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995	Baraitser-Winter syndrome 1	germline	7	5528458	AGCTTCACCACCACGGCCGAGCGGGAAATCGTGCGTGACATTAAGGAGAAGCTGTGCTACG
72653755	427059	NM_001171.5(ABCC6):c.676G>A (p.Gly226Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16208846	GTGCCCCTCTTTTGCAGCCTGGTCTGGAGGGGATACAGGAGGCCACTGAGACCAAAAGACC
763818876	244114	NM_198576.3(AGRN):c.5611G>A (p.Gly1871Arg)	AGRN	Jul 14, 2016	MedGen:C0751882,Orphanet:ORPHA590	Congenital myasthenic syndrome	germline	1	1051775	GCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTG
199638097	265255	NM_000512.4(GALNS):c.139G>A (p.Gly47Arg)	GALNS	Dec 03, 2015	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88842811	TCTTCCCTGCAGATGGGATGGGGTGACCTCGGGGTGTATGGAGAGCCCTCCAGAGAGACCC
147210663	143194	NM_000040.2(APOC3):c.127G>A (p.Ala43Thr)	APOC3	Jul 03, 2014	MedGen:C0010068;MedGen:C3151467,OMIM:614028	Coronary heart disease;Hyperalphalipoproteinemia 2	germline	11	116830844	CAGGGTTACATGAAGCACGCCACCAAGACCGCCAAGGATGCACTGAGCAGCGTGCAGGAGT
72667022	32350	NG_007400.1:g.8207G>A	COL1A1	Aug 01, 1991	MedGen:C0268345,OMIM:130060,SNOMED CT:55711009	Ehlers-Danlos syndrome, procollagen proteinase deficient	germline	17	50198433	AACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAG
730880576	179234	NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter)	MYBPC3	Jul 13, 2012	MedGen:CN517202	not provided	germline	11	47335199	CTCCCCCTCCCCACCCCCAGGCTCAGAGTGGGTGGCTGCCCTGCAGGGGCTGACAGAGCAC
794728215	197712	NM_000138.4(FBN1):c.4062G>A (p.Trp1354Ter)	FBN1	Jan 20, 2013	MedGen:CN517202	not provided	germline	15	48474553	AAGCTTCAAATGTAGCTGCAGTCCCGGGTGGATTGGAGATGGCATTAAGTGCACTGGTGAG
386833550	70708	NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg)	GLDC	Jul 11, 2013	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	not provided	9	6554700	CTTCACAAGACCTTCTGCATTCCCCACGGAGGAGGTGGTCCTGGCATGGGGCCCATCGGAG
587784143	168216	NM_022455.4(NSD1):c.5375G>A (p.Gly1792Glu)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177269673	CCAACATTGATAAGATGAGACATGATGTGGGAGAGTTCCCAGTCCTCTTTTTTGGATCTAA
68026851	26026	NM_000531.5(OTC):c.422G>A (p.Arg141Gln)	OTC	May 19, 2015	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38401310	TGTCTAGCATGGCAGATGCAGTATTGGCTCGAGTGTATAAACAATCAGATTTGGACACCCT
587776551	18074	NM_000051.3(ATM):c.3576G>A (p.Lys1192=)	ATM	Oct 09, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108281168	GAATGGATTAGAACCTCACCTTGTGAAAAAGGTATATATGGATGAGTATTTTATTAGAAGC
199422152	34422	NM_018136.4(ASPM):c.2967G>A (p.Trp989Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197125161	GCGAACCATGGAACTTCTCACACAGAACTGGGACCTCTCAAAGAAACTCAGGATTCCGGCA
398123456	99120	NM_000528.3(MAN2B1):c.2398G>A (p.Gly800Arg)	MAN2B1	Nov 05, 2012	MedGen:CN517202	not provided	germline	19	12649174	CAGCTGACTGTGCTGACTGACCGCTCCCAGGGGGGCAGCAGCCTGAGAGATGGCTCGCTGG
886041369	265152	NM_000444.5(PHEX):c.1979G>A (p.Trp660Ter)	PHEX	Jun 12, 2017	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline	X	22227520	TCTTCTTCTCTCACCAGGCTTACAGGAAATGGATAAATGACAGAAGGCAGGGACTTGAGGA
-1	433419	NM_001844.4(COL2A1):c.1537G>A (p.Gly513Ser)	COL2A1	Jan 22, 2017	MedGen:CN169374	not specified	germline	12	47985956	CTCCTCCCTGTGGCTCCTTAGGGTGCTCCCGGCAACCGCGGTTTCCCAGGTCAAGATGGTC
281865417	24711	m.6277G>A	MT-CO1	Mar 03, 2009	MedGen:CN029768	Familial colorectal cancer	germline	MT	6277	CTGCTATAGTGGAGGCCGGAGCAGGAACAGGTTGAACAGTCTACCCTCCCTTAGCAGGGAA
387906324	33476	NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:C3159322,OMIM:184095	Skeletal dysplasia;Spondyloepiphyseal dysplasia Maroteaux type	germline	12	109808308	TTGCTGACCCACAAGAAACGCCTAACTGATGAGGAGTTTCGAGGTGAGCCACCCAGATGGG
-1	466817	NM_004360.4(CDH1):c.467G>A (p.Trp156Ter)	CDH1	Apr 05, 2017	MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary diffuse gastric cancer	germline	16	68808503	CTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAA
267606956	19885	NM_007254.3(PNKP):c.976G>A (p.Glu326Lys)	PNKP	Apr 02, 2015	MedGen:C3150667,OMIM:613402;MedGen:CN517202	Early infantile epileptic encephalopathy 10;not provided	germline	19	49862424	AACCTTGGCCTGCCCTTCGCCACGCCTGAGGAGTTCTTTCTCAAGTGGCCAGCAGCCGGCT
121912946	32162	NM_080680.2(COL11A2):c.4322G>A (p.Gly1441Glu)	COL11A2	Nov 02, 1998	MedGen:C1861481,OMIM:184840	Stickler syndrome, type 3	germline	6	33166736	GGGGACTTCCTGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGAGTAGAGGGCA
750436680	214371	NM_030578.3(B9D2):c.463G>A (p.Gly155Ser)	B9D2	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	19	41354765	GACCGCTATCGCCTGCACACAGCTGCTGGTGGCACCGTGCACCTGGAGATCGGCCTGCTGC
752673677	107261	NM_198173.2(GRHL3):c.893G>A (p.Arg298His)	GRHL3	Jan 02, 2014	MedGen:C1847604,OMIM:606713	Van der Woude syndrome 2	germline	1	24338044	ACAATGAGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGGAAGCACTGGCATTCCCGGCAACC
1060499936	390651	NM_001128849.1(SMARCA4):c.2851G>A (p.Gly951Arg)	SMARCA4	Mar 09, 2017	MedGen:C3553249,OMIM:614609	Mental retardation, autosomal dominant 16	de novo	19	11021959	CAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCC
72658137	259885	NM_000089.3(COL1A2):c.1658G>A (p.Gly553Asp)	COL1A2	Aug 25, 2016	MedGen:CN517202	not provided	germline	7	94413940	AAGGTGAACAGGGTCCCCCTGGTCCTCCAGGCTTCCAGGTAAGTCAACTCAAACATATACA
879253768	244034	NM_021831.5(AGBL5):c.883G>A (p.Asp295Asn)	AGBL5	Sep 06, 2017	MedGen:C4310759,OMIM:617023	Retinitis pigmentosa 75	germline	2	27055228	GTCTTTAAGCTGATTCCCATGTTGAACCCCGATGGTGTGGTCCGGGGACACTACCGGTAAG
527236139	152888	NM_206933.2(USH2A):c.11156G>A (p.Arg3719His)	USH2A	May 26, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C1848634,OMIM:276901;MedGen:CN517202	Retinitis pigmentosa;Usher syndrome, type 2A;not provided	germline;unknown	1	215759735	ATGGCCTCGTTTCTCAATATCAATTGAGTCGTAATGGAAACTTGCTTTTCCTGGGTGGCAG
104894341	32884	NM_000486.5(AQP2):c.568G>A (p.Ala190Thr)	AQP2	Dec 15, 2004	MedGen:C4015884	Diabetes insipidus, nephrogenic, autosomal recessive	germline	12	49954672	GGCTGCTCTATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTCGTCACTGGCAAATTTGATG
587779419	106849	NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188992923	CCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTT
121912633	20032	NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile)	TRPV4	Aug 09, 2017	MedGen:C0432227,OMIM:113500,Orphanet:ORPHA93304,SNOMED CT:254087001;MedGen:C2079540,OMIM:606071;MedGen:C0027868,Orphanet:ORPHA68381;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Brachyrachia (short spine dysplasia);Charcot-Marie-Tooth disease type 2C;Neuromuscular Diseases;Skeletal dysplasia;Skeletal dysplasia	germline	12	109792396	CTCTTCAAGGACCTTTTCCGATTCCTGCTCGTCTACTTGCTCTTCATGATCGGCTACGCTT
267606317	92943	NM_178151.2(DCX):c.305G>A (p.Arg102His)	DCX	Sep 30, 2016	Human Phenotype Ontology:HP:0002282,MedGen:C0008519;MedGen:CN517202	Heterotopia;not provided	germline	X	111410094	CTGACAACATCAACCTGCCTCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAA
137852398	25224	NM_000132.3(F8):c.797G>A (p.Gly266Glu)	F8	Sep 12, 2013	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969543	TGTCTTATTCCTACTTTACAGGTCTGATTGGATGCCACAGGAAATCAGTCTATTGGCATGT
1060502644	404277	NM_004006.2(DMD):c.1061G>A (p.Trp354Ter)	DMD	Mar 08, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32645052	ATCAAACAGCTTTAGAAGAAGTATTATCGTGGCTTCTTTCTGCTGAGGACACATTGCAAGC
121912898	32441	NM_001844.4(COL2A1):c.170G>A (p.Cys57Tyr)	COL2A1	Jan 01, 2008	MedGen:C1836080,OMIM:609508	Stickler syndrome, type I, nonsyndromic ocular	germline	12	48000041	GGAAGCCGGAGCCCTGCCGGATCTGTGTCTGTGACACTGGGACTGTCCTCTGCGACGACAT
267608479	165884	NM_003159.2(CDKL5):c.463+1G>A	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095;MedGen:CN517202	Atypical Rett syndrome;not provided	de novo	X	18581951	ACAATGATGTCCTAAAACTGTGTGACTTTGGTAAGTTAAAAAGAAATTAAGTCCTGGTACT
761575295	273767	NM_005603.5(ATP8B1):c.279G>A (p.Ala93=)	ATP8B1	Jul 14, 2016	MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Progressive intrahepatic cholestasis	germline	18	57706490	ATTCTTGTGTATTAAGGAGAGTAAATATGCGGTGAGTTGTTAACTTTCTGAATTGTTTTCA
-1	481759	NM_001320.6(CSNK2B):c.36G>A (p.Trp12Ter)	CSNK2B	Dec 07, 2017	MedGen:CN517202	not provided	germline	6	31666867	CAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTC
-1	481734	NM_022455.4(NSD1):c.5229G>A (p.Trp1743Ter)	NSD1	Jun 15, 2017	MedGen:CN517202	not provided	germline	5	177267644	CCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAG
137852908	17935	NM_000419.4(ITGA2B):c.1073G>A (p.Arg358His)	ITGA2B	Oct 19, 2016	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44383630	GGGCAGACCGAAAACTGGCCGAAGTGGGGCGTGTGTATTTGTTCCTGCAGCCGCGAGGCCC
794726658	17243	NM_018668.4(VPS33B):c.700+1G>A	VPS33B	Dec 01, 2007	MedGen:C1859722,OMIM:208085,Orphanet:ORPHA2697	Arthrogryposis renal dysfunction cholestasis syndrome	germline	15	91006949	AGATTGGACATATCTTTCTCTTGGACAGAGGTAAATTATGCCCAGCGTTCCTGTCATCTTT
121434346	17058	NM_001003841.2(SLC6A19):c.517G>A (p.Asp173Asn)	SLC6A19	Jul 24, 2017	MedGen:C0018609,OMIM:234500,Orphanet:ORPHA2116,SNOMED CT:80902009;MedGen:CN517202	Neutral 1 amino acid transport defect;not provided	germline	5	1212338	GTGGACGAGTGCGCCAGGAGCTCCCCTGTGGACTACTTCTGGTACCGAGAGACGCTCAACA
886037658	106770	NM_012229.4(NT5C2):c.175+1G>A	NT5C2	Jan 31, 2014	Gene:100322879,MedGen:C3888209,OMIM:613162	Spastic paraplegia 45, autosomal recessive	germline	10	103139405	TTGGTTTTGATATGGATTATACCCTTGCTGGTGAGTAGCAATTTCTGATTGCTTAAGAACT
121912649	27743	NM_003235.4(TG):c.5690G>A (p.Cys1897Tyr)	TG	Jan 01, 2006	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	Iodotyrosyl coupling defect	germline	8	132967797	AAAATCACACTACTCTCTTGCCTGTAGGTTGTGTGCAGGAGCACTCTTTCTGTCAGCTCGC
121913641	29146	NM_000257.3(MYH7):c.2156G>A (p.Arg719Gln)	MYH7	Jun 12, 2017	MedGen:CN230736;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23425970	TCCCCAACCGCATCCTCTACGGGGACTTCCGGCAGAGGTGGGTATGAGGGTGCACCAGAGC
180177170	200434	NM_000030.2(AGXT):c.125G>A (p.Gly42Glu)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240868990	ACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGA
121908099	19299	NM_000784.3(CYP27A1):c.1214G>A (p.Arg405Gln)	CYP27A1	Mar 18, 2016	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	germline	2	218814409	GTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGG
121434439	21880	NM_014236.3(GNPAT):c.632G>A (p.Arg211His)	GNPAT	Jan 15, 2001	MedGen:C1857242,OMIM:222765,Orphanet:ORPHA309796	Rhizomelic chondrodysplasia punctata type 2	germline	1	231265356	TACGAATGTCGGGTGCCTTTTTCATGCGGCGTACCTTTGGTGGCAATAAACTCTACTGGGC
62642574	105193	NM_000350.2(ABCA4):c.4594G>A (p.Asp1532Asn)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94024994	CTACAAGACCTGACGGACAGGAACATCTCCGACTTCTTGGTAAAAACGTATCCTGCTCTTA
1060500286	401885	NM_000267.3(NF1):c.7044G>A (p.Trp2348Ter)	NF1	Jul 22, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31343053	ATTTATGGCAATCCGGAATCCTCTGGAGTGGCACTGCAAGCAAATGGATCATTTTGTTGGA
104894424	21032	NM_014252.3(SLC25A15):c.538G>A (p.Glu180Lys)	SLC25A15	Apr 20, 2017	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008;MedGen:CN517202	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;not provided	germline	13	40807379	TACCATGGACTCTCAAGCACTTTACTTCGAGAAGTACCAGGCTATTTCTTCTTCTTCGGTG
113994047	269353	NM_003907.2(EIF2B5):c.241G>A (p.Glu81Lys)	EIF2B5	Nov 25, 2015	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	3	184136657	GCCAATGTGGCATTAATTGACTACACTCTGGAATTCCTGACTGCCACAGGTGTACAGGAAA
-1	438546	NM_006164.4(NFE2L2):c.91G>A (p.Gly31Arg)	NFE2L2	Oct 30, 2017	MedGen:CN578218,OMIM:617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	germline	2	177234226	GACATACTTTGGAGGCAAGATATAGATCTTGGAGTAAGTCGAGAAGTATTTGACTTCAGTC
587779021	95738	NM_000249.3(MLH1):c.545G>A (p.Arg182Lys)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37008905	AATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCT
121912447	29808	NM_000454.4(SOD1):c.436G>A (p.Ala146Thr)	SOD1	Sep 01, 1995	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31668549	ACAAAGACAGGAAACGCTGGAAGTCGTTTGGCTTGTGGTGTAATTGGGATCGCCCAATAAA
45517259	27442	NM_000548.4(TSC2):c.2714G>A (p.Arg905Gln)	TSC2	May 11, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2076142	TGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGT
281865557	426852	NM_001171.5(ABCC6):c.3735G>A (p.Glu1245=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16159482	GATGCAGGACTATGCCTGGACGCCCAAGGAGGTGATGGGCGGGAGGTGGGGAGGGGGTCCC
886040969	262392	NM_022162.2(NOD2):c.2446G>A	NOD2	Oct 27, 2016	MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:310701003	Behcet's syndrome	germline	16	50712357	GGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGG
267607884	95459	NM_000249.3(MLH1):c.1990-1G>A	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37048903	TATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTTT
794727219	192079	NM_000182.4(HADHA):c.2146+1G>A	HADHA	Jul 15, 2014	MedGen:CN074230,OMIM:609016;MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency	germline	2	26191482	TTGGGCTTGGCTTCCCGCCTTGTCTGGGAGGTTGGTCTCGCAGGTTGGGAAGGAAGCTCAC
879254707	245834	NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107461	GCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTC
550921485	187952	NM_002143.2(HPCA):c.568G>A (p.Ala190Thr)	HPCA	Apr 02, 2015	Gene:1862,MedGen:C1857093,OMIM:224500,Orphanet:ORPHA99657	Dystonia 2, torsion, autosomal recessive	germline	1	32893848	GTGCGTCTGCTGCAGTGCGACCCCAGCAGCGCCTCCCAGTTCTGAGAGGAGCCAGGTTCCC
397516067	51953	NM_000256.3(MYBPC3):c.655-1G>A	MYBPC3	Aug 25, 2017	MedGen:CN230736;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47348542	CCCCTGACGCCCCGTCCCTCCATGCACACAGGTCTATCTGTTCGAGCTGCACATCACCGAT
28931607	31942	NM_000941.2(POR):c.1706G>A (p.Cys569Tyr)	POR	Jun 26, 2004	MedGen:C2673964,OMIM:613571	Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency	germline	7	75985959	AGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCG
398123025	59845	NM_003867.3(FGF17):c.530G>A (p.Arg177His)	FGF17	May 02, 2013	MedGen:C4016855	Hypogonadotropic hypogonadism 20 without anosmia	germline	8	22048128	AGAACCAGCGCGAGGCCCACTTCATCAAGCGCCTCTACCAAGGCCAGCTGCCCTTCCCCAA
28679680	24707	m.6930G>A	MT-CO1	Sep 01, 1999	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	MT	6930	AAATGATCTGCTGCAGTGCTCTGAGCCCTAGGATTCATCTTTCTTTTCACCGTAGGTGGCC
199469629	106421	NM_017415.2(KLHL3):c.1151G>A (p.Arg384Gln)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137639021	GGACGTCCATTGCCAGCATGCAGGAGCGCCGGAGCACACTGGGCGCAGCGGTGCTCAATGA
104886396	35604	NM_000495.4(COL4A5):c.385-719G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108570694	TCGGGACCTACTTTTTCCATGTGTAACAAGGTGGAGAGAAGGGTATTGGACTCACAAAGAC
281874656	35704	NM_000495.4(COL4A5):c.1084G>A (p.Gly362Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108586666	GGTATAACTATAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGAAAAAGGAG
587777389	136556	NM_005026.4(PIK3CD):c.1573G>A (p.Glu525Lys)	PIK3CD	Jan 01, 2014	MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596	Immunodeficiency 14	de novo;germline	1	9720793	CTGGAGCGGCGGGGGTCTGGGGAGCTGTATGAGCACGAGAAGGACCTGGTGTGGAAGCTGC
386833554	70712	NM_000170.2(GLDC):c.2316-1G>A	GLDC	Apr 28, 2017	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	9	6553510	TTTTCTGAATTTGCACTTAAAAAAAATACAGGAAGAAACATCTCGCCCCGTTTTTGCCCAA
755938967	431409	NM_152558.4(IQCE):c.395-1G>A	IQCE	Aug 23, 2017	MedGen:CN417139,OMIM:617642	POLYDACTYLY, POSTAXIAL, TYPE A7	germline	7	2573417	TCTTTGAAACGATTTGTTTATGTTTCTCTAGGTCATGTCCCTGGGACTCCTGTCTACAGAG
120074121	18025	NM_000543.4(SMPD1):c.1152G>A (p.Met384Ile)	SMPD1	Mar 11, 2010	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006	Niemann-Pick disease, type A	germline	11	6393276	CCCCGGTCTCCGCCTCATCTCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTC
80356537	45777	NM_152296.4(ATP1A3):c.2401G>A (p.Asp801Asn)	ATP1A3	May 18, 2017	MedGen:C3553788,OMIM:614820;MedGen:C3553788,OMIM:614820;MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171;MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517;MedGen:CN517202	Alternating hemiplegia of childhood 2;Alternating hemiplegia of childhood 2;Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss;Dystonia 12;not provided	de novo;germline;unknown	19	41970405	CCCCTGGGCACCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTGGCA
727504443	173844	NM_004415.3(DSP):c.939+1G>A	DSP	Jul 06, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1843896,OMIM:607450;Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;not provided	germline	6	7565521	AACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTT
387906905	39430	NM_021625.4(TRPV4):c.947G>A (p.Arg316His)	TRPV4	Apr 05, 2016	MedGen:C2079540,OMIM:606071;Human Phenotype Ontology:HP:0003457,MedGen:C0476403;Human Phenotype Ontology:HP:0007210,MedGen:C4024921;MedGen:C0027868,Orphanet:ORPHA68381;Human Phenotype Ontology:HP:0001762,MedGen:C1842988;MedGen:CN517202	Charcot-Marie-Tooth disease type 2C;EMG abnormality;Lower limb amyotrophy;Neuromuscular Diseases;Talipes equinovarus;not provided	germline;unknown	12	109798819	AGAACCCCCACAAGAAGGCGGACATGCGGCGCCAGGACTCGCGAGGCAACACAGTGCTGCA
397516355	52562	NM_000363.4(TNNI3):c.544G>A (p.Glu182Lys)	TNNI3	Sep 10, 2014	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	19	55154035	CACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTGAGTGTGGGCTAAGGCCAGGAAA
141638421	51094	NM_001885.2(CRYAB):c.470G>A (p.Arg157His)	CRYAB	Apr 18, 2013	MedGen:C3554649,OMIM:615184	Dilated cardiomyopathy 1II	germline	11	111908822	GACCAAGGAAACAGGTCTCTGGCCCTGAGCGCACCATTCCCATCACCCGTGAAGAGAAGCC
797045341	209231	NM_000052.6(ATP7A):c.1946+5G>A	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78011257	TTAGATCATAAACGAGAAATAAGACAGTAAGTACTTTGGAGTGTCAGTAAAAAACAGATTT
797044544	181176	NM_020822.2(KCNT1):c.2688G>A (p.Met896Ile)	KCNT1	Feb 19, 2015	MedGen:C3554306,OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	germline	9	135778781	GAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAG
199422220	29277	NM_000253.3(MTTP):c.1619G>A (p.Arg540His)	MTTP	Nov 22, 1996	MedGen:C0000744,OMIM:200100,Orphanet:ORPHA14,SNOMED CT:190787008	Abetalipoproteinaemia	germline	4	99608827	AAAACCGTAAAGTTCATGAAAAGACTGTGCGCACTGCTGCAGCTGCTATCATTTTAAATAA
398123646	99811	NM_001849.3(COL6A2):c.1522-1G>A	COL6A2	Oct 24, 2013	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	46122107	CCATGCTGACCGACTCAACGTCCTCCTCCAGGGAGACCCCGGCAGGCCTGGATTCAGCTAC
876657722	229537	NM_000441.1(SLC26A4):c.1544+1G>A	SLC26A4	Jan 11, 2016	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome	germline;unknown	7	107696040	ACTGTTGACTGTGGTCCTGAGAGTTCAGTTGTGAGTAACGTAAAACCCAGATTTCCTATAA
104886448	35685	NM_000495.4(COL4A5):c.937-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108582883	CTGATGTCACCCTATCCTCTATGTTTTAAAGGGTTTGCCTGGTGATCCTGGTTACCCTGGT
104894173	22626	NM_006214.3(PHYH):c.610G>A (p.Gly204Ser)	PHYH	May 01, 2000	MedGen:C2749345	Refsum disease, adult, 1	germline	10	13288428	ACGGCGATGGAGCACATCAGCCGGAACAACGGCTGTCTGGTTGTGCTCCCAGGCACACACA
606231456	171252	NM_001543.4(NDST1):c.2126G>A (p.Arg709Gln)	NDST1	Dec 03, 2014	MedGen:C4015283,OMIM:616116	Mental retardation, autosomal recessive 46	germline	5	150545467	TCCTGACCATCCTCATCAACCCCGCGGACCGGGCCTATTCCTGGTACCAGGTGAGTGGGGC
72558468	103255	NM_000531.5(OTC):c.931G>A (p.Val311Met)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411925	TTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGGATGATGAAGTCTTTTATTCTCCTCGAT
121434408	21503	NM_001003722.1(GLE1):c.1849G>A (p.Val617Met)	GLE1	Feb 01, 2008	MedGen:C2678471,OMIM:611890,Orphanet:ORPHA53696	Lethal arthrogryposis with anterior horn cell disease	germline	9	128538058	CAGATCTTAAACATGGAGCCCTTGTCAGATGTGACAGCCACCCTCCTCTTTGACTTCCTGG
121918128	15437	NM_019892.5(INPP5E):c.1688G>A (p.Arg563His)	INPP5E	Sep 01, 2009	MedGen:CN119531,OMIM:213300	Joubert syndrome 1	germline	9	136430391	TCCCAAAGGACCGCGTCTTGTACAGAAGCCGCCACAAGGGTGACATCTGTCCTGTGAGCTA
1060500245	433236	NM_000267.3(NF1):c.654+1G>A	NF1	Oct 05, 2016	MedGen:CN169374	not specified	germline	17	31181490	CAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAGTTACAACCTCTCTGGTATTAAAATTT
796053126	201348	NM_021007.2(SCN2A):c.2995G>A (p.Glu999Lys)	SCN2A	Jul 25, 2017	MedGen:C3150987,OMIM:613721;MedGen:CN517202	Early infantile epileptic encephalopathy 11;not provided	germline;unknown	2	165354267	GACAATCTTGCTGCCACTGATGATGATAACGAAATGAATAATCTCCAGATTGCTGTGGGAA
121913039	31702	NM_001953.4(TYMP):c.622G>A (p.Val208Met)	TYMP	Jul 19, 2017	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298;MedGen:CN517202	Mitochondrial DNA depletion syndrome 1 (MNGIE type);not provided	germline	22	50527612	CTATATGCAGCCAGAGATGTGACAGCCACCGTGGACAGCCTGCCACTCATCACAGGTGACC
147785187	433589	NM_005142.2(GIF):c.79+1G>A	GIF	Dec 23, 2016	MedGen:CN169374	not specified	germline	11	59845374	GGACTAGTACCCAGACCCAGAGTTCATGCTGTGAGTATGATGTTTTTCCAAGGAGGTCAGG
387907000	39711	NM_133261.2(GIPC3):c.903G>A (p.Trp301Ter)	GIPC3	Feb 15, 2011	MedGen:C1866094,OMIM:601869	Deafness, autosomal recessive 15	germline	19	3590154	CTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGT
587783086	166459	NM_003159.2(CDKL5):c.577G>A (p.Asp193Asn)	CDKL5	Nov 27, 2012	MedGen:CN517202	not provided	germline	X	18587976	TTTTTCAGCGCTCCCTATGGAAAGTCCGTGGACATGTGGTCGGTGGGCTGTATTCTTGGGG
370686447	98354	NM_000137.2(FAH):c.456G>A (p.Trp152Ter)	FAH	Jun 26, 2013	MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006	Tyrosinemia type I	germline	15	80168052	GCCCTGCATTCTCTTGCCTTCCTTTCTCAGGCTGCACTTACCAGTGGGCTACCATGGCCGT
80358070	46123	NM_007294.3(BRCA1):c.4097-1G>A	BRCA1	Aug 10, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43091033	TACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAA
11539445	108176	NM_001040436.2(YARS2):c.572G>A (p.Gly191Asp)	YARS2	Dec 17, 2013	MedGen:C3150802,OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	germline	12	32755303	ACCTGGTGGACTTCCTGGCGGCAGTGGGGGGTCACTTCCGCATGGGGACGCTGCTGAGCCG
886039759	260384	NM_024818.4(UBA5):c.778G>A (p.Val260Met)	UBA5	Oct 06, 2016	MedGen:C4310700,OMIM:617132	Epileptic encephalopathy, early infantile, 44	germline	3	132672143	TGTGCAGCCAGTCTTCCTACCACTATGGGTGTGGTTGCTGGGATCTTAGTACAAAACGTGT
761988162	264753	NM_000135.2(FANCA):c.4011-1G>A	FANCA	Jun 30, 2016	MedGen:CN517202	not provided	germline	16	89739290	TAGCCATTTGTCACTATGTCTTTACCTCTAGTCTTCTCTCCTACTTCCATGAAGACGCGGC
267606819	33458	NM_014053.3(FLVCR1):c.721G>A (p.Ala241Thr)	FLVCR1	Nov 12, 2010	MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628	Posterior column ataxia with retinitis pigmentosa	germline	1	212859173	CCCAAAGAGGTGTCCACAGCTTGTGCCACCGCCGTGCTGGGCAATCAGGTAAGTACTGGAG
587779461	106898	NM_000090.3(COL3A1):c.2337G>A (p.Lys779=)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189001450	TCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAA
876659874	236240	NM_058216.2(RAD51C):c.914G>A (p.Trp305Ter)	RAD51C	Jul 06, 2017	MedGen:C3150653,OMIM:613390;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome;not provided	germline	17	58724049	TATTATGTTTTTTACTCTCAGGGGAAAGTTGGGGACATGCTGCTACAATACGGCTAATCTT
1060501488	404370	NM_001242896.1(DEPDC5):c.434G>A (p.Trp145Ter)	DEPDC5	May 07, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31778119	ATTCTTTCAGAGCACAGGCTGGTGAACTGTGGGTTAAGAATGAGAAGGTCATGTGTGGCTA
74315291	32535	NM_000748.2(CHRNB2):c.859G>A (p.Val287Met)	CHRNB2	Sep 20, 2012	MedGen:C1854335,OMIM:605375	Epilepsy, nocturnal frontal lobe, type 3	germline	1	154571682	ACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCG
132630314	26076	NM_001399.4(EDA):c.467G>A (p.Arg156His)	EDA	Sep 05, 2017	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005;Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468;MedGen:CN517202	Hypohidrotic X-linked ectodermal dysplasia;Hypohidrotic ectodermal dysplasia;not provided	germline	X	69957097	ACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGC
122459146	26593	NM_001159702.2(FHL1):c.449G>A (p.Cys150Tyr)	FHL1	Jan 27, 2009	MedGen:C2678027,OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	germline	X	136207909	GCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAA
587777191	106824	NM_005017.3(PCYT1A):c.295G>A (p.Ala99Thr)	PCYT1A	Jan 02, 2014	MedGen:C1837073,OMIM:608940,Orphanet:ORPHA85167	Spondylometaphyseal dysplasia with cone-rod dystrophy	germline	3	196248246	CACTCTGGTCACGCCCGAGCTCTGATGCAAGCGAAGAACCTTTTCCCTAATACGTACCTCA
139751448	187031	NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln)	NPC1	Mar 24, 2017	MedGen:C3179455,OMIM:257220;MedGen:C0220756,Orphanet:ORPHA646,SNOMED CT:66751000;MedGen:CN517202	Niemann-Pick disease type C1;Niemann-Pick disease, type C;not provided	germline;unknown	18	23556358	ACTTTGACCAGCACTTTGGGCCTTTCTTCCGGACGGAGCAGCTCATCATCCGGGCCCCTCT
120074183	18161	NM_000218.2(KCNQ1):c.1034G>A (p.Gly345Glu)	KCNQ1	Jan 01, 1996	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007	Congenital long QT syndrome;Long QT syndrome 1	germline	11	2585213	ACGGGAGCCTCCTGTCCATTCCTTCCCAGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGT
121912843	32488	NM_000094.3(COL7A1):c.6044G>A (p.Gly2015Glu)	COL7A1	Jul 24, 1998	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568	Generalized dominant dystrophic epidermolysis bullosa	germline	3	48575475	AGGGCGACCGTGGAGACCCTGGCCCTCAGGGGCCACCTGGTCTGGCCCTTGGGGAGAGGGG
119478059	19792	NM_020191.2(MRPS22):c.509G>A (p.Arg170His)	MRPS22	Dec 01, 2007	MedGen:C2673642,OMIM:611719,Orphanet:ORPHA137908	Combined oxidative phosphorylation deficiency 5	germline	3	139350183	TCCTTGATTATGTTTTTCTATTTTAGGAGCGTTTTATTGTCGTCAGAGAACCAAGTGGCAC
793888508	45741	NM_015631.5(TCTN3):c.940G>A (p.Gly314Arg)	TCTN3	Sep 10, 2012	MedGen:C3553758,OMIM:614815	Joubert syndrome 18	germline	10	95685585	ACCTCACAGGCTAATGCTCCTCTGTTGGCTGGAAACACTTGTCAGAATGTAGTTTCTCAGG
886039228	259258	NM_004082.4(DCTN1):c.200G>A (p.Gly67Asp)	DCTN1	Sep 29, 2016	MedGen:C1868594,OMIM:168605,Orphanet:ORPHA178509	Perry syndrome	germline	2	74378079	GGGTAGGCGTGATTCTGGATGAAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAA
137852804	33421	NM_001039523.2(CHRNA1):c.988G>A (p.Val330Ile)	CHRNA1	Mar 01, 1999	MedGen:C1837122,OMIM:608930	Congenital myasthenic syndrome 1B, fast-channel	germline	2	174750035	GGAAAATACATGCTGTTCACCATGGTGTTCGTCATTGCCTCCATCATCATCACTGTCATCG
587776783	132342	NM_000321.2(RB1):c.1215+1G>A	RB1	Mar 10, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline;somatic	13	48373493	CCTTCAGAAAATCTGATTTCCTATTTTAACGTAAGCCATATATGAAACATTATTTATTGTA
587779580	107037	NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004338	GCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGA
121913355	29013	NM_004333.4(BRAF):c.1406G>A (p.Gly469Glu)	BRAF	Apr 03, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MedGen:CN166718,Orphanet:ORPHA98733;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;Human Phenotype Ontology:HP:0006739,MedGen:C0553723;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:CN517202;MedGen:CN169374	Adenocarcinoma of lung;Adenocarcinoma of prostate;Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 1;Colorectal Neoplasms;Malignant melanoma;Malignant melanoma of skin;Multiple myeloma;Rasopathy;Squamous cell carcinoma of lung;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;not provided;not specified	germline;somatic;unknown	7	140781602	TGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGGGAAAGTGGCATGGTAA
863223458	210106	NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser)	COL5A1	Jan 12, 2014	MedGen:CN517202	not provided	germline	9	134820143	CAGGGTCATCCAGGCCTGATCGGGCTCATCGGTCCTCCGGGTGAACAGGGTGAGAAGGGCG
754667801	214831	NM_005689.3(ABCB6):c.1124G>A (p.Arg375Gln)	ABCB6	Jan 01, 2013	Gene:541461,MedGen:C1836705,OMIM:609153,Orphanet:ORPHA90044	Pseudohyperkalemia, familial, 2, due to red cell leak	germline	2	219216027	GCACAGGGGAGGTGCTGCGGATCGCGGATCGGGGCACATCCAGTGTCACAGGGCTGCTCAG
80338915	23082	NM_003221.3(TFAP2B):c.854G>A (p.Arg285Gln)	TFAP2B	Sep 08, 2017	MedGen:C1868570,OMIM:169100,Orphanet:ORPHA46627	Char syndrome	germline	6	50838007	CCAAATCGAAAAATGGGGGGAGATCTTTGCGAGAAAGGCTAGAAAAAATCGGTTTGAATTT
-1	442365	NM_033380.2(COL4A5):c.404G>A (p.Gly135Asp)	COL4A5	Mar 31, 2017	MedGen:CN517202	not provided	germline	X	108571432	ACTCCTTCTAGGGAGAACGTGGATTTCCAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCC
28939688	22135	NM_001008211.1(OPTN):c.148G>A (p.Glu50Lys)	OPTN	Feb 08, 2002	MedGen:C1842026	Glaucoma 1, open angle, e	germline	10	13109270	CTGCTGCAGCAGATGAAAGAGCTCCTGACCGAGAACCACCAGCTGAAAGGTGAGCAGGGCT
72656396	359683	NM_000089.3(COL1A2):c.983G>A (p.Gly328Asp)	COL1A2	Oct 24, 2016	MedGen:CN517202	not provided	germline	7	94409769	CTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGC
863225009	213852	NM_004006.2(DMD):c.7817G>A (p.Trp2606Ter)	DMD	Mar 07, 2013	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31679430	TAGGACAGGCCAGAGCCAAGCTTGAGTCATGGAAGGAGGGTCCCTATACAGTAGATGCAAT
121913132	29884	NM_000183.2(HADHB):c.182G>A (p.Arg61His)	HADHB	Oct 05, 2017	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008;MedGen:CN517202	Mitochondrial trifunctional protein deficiency;not provided	germline	2	26263452	TAAGGAATGTTGTGGTGGTGGATGGTGTTCGCACTCCATTTTTGCTGTCTGGCACTTCGTA
180177314	200634	NM_012203.1(GRHPR):c.494G>A (p.Gly165Asp)	GRHPR	May 26, 2017	MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006;MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria;Primary hyperoxaluria, type II	germline	9	37429732	GGAACGAGACATGGACTCTCCTTGCTCTAGGCCAGGCCATTGCTCGGCGTCTGAAACCATT
118203419	58238	NM_000368.4(TSC1):c.663+1G>A	TSC1	Oct 12, 2016	MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009;MedGen:CN517202	Malignant tumor of urinary bladder;not provided	germline	9	132921818	AACCTGGAGACTTTTGAAGAAGTGGTCAAGGTAAATTGAAACTGCTTGTTTGTTTGCTACT
397514360	36347	NM_000060.4(BTD):c.459G>A (p.Glu153Glu=)	BTD	Nov 28, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline	3	15642057	CCTGGAGCCTCACCGCTTCAATGACACAGAGGTGATTCCTGCCTTTTTCCTCAGTAGGCTG
119461976	17958	NM_024077.4(SECISBP2):c.1619G>A (p.Arg540Gln)	SECISBP2	Nov 01, 2005	MedGen:C1864761,OMIM:609698,Orphanet:ORPHA171706	Thyroid hormone metabolism, abnormal	germline	9	89348095	ATTTAATTTTTAAGATTATTTTGAAAGAACGGCAAGAGAGAAAGCAGCGTCTCCAAGAAAA
398124321	101692	NM_017780.3(CHD7):c.5405-7G>A	CHD7	Sep 08, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005;MedGen:CN517202	CHARGE association;not provided	de novo;germline;not applicable	8	60850486	TCTGTGTGTTTTCTGTGCACGGATGGGCACGGCACAGGCTATGAGAAGTACAACTCCATGC
1057520413	366036	NM_021007.2(SCN2A):c.781G>A (p.Val261Met)	SCN2A	Dec 22, 2016	MedGen:CN517202	not provided	germline	2	165310406	GTCATGATCTTGACTGTGTTCTGTCTAAGCGTGTTTGCGCTAATAGGATTGCAGTTGTTCA
776743373	265010	NM_000276.3(OCRL):c.940-11G>A	OCRL	Oct 19, 2017	MedGen:C1845167,OMIM:300555,Orphanet:ORPHA93623;MedGen:C0028860,OMIM:309000,Orphanet:ORPHA534,SNOMED CT:79385002;MedGen:CN517202	Dent disease 2;Lowe syndrome;not provided	de novo;germline	X	129562373	GGTATTAACATTAACCTTTTGTAACTCCCCGGAACTCATAGGTTCAACTGGTGCGCCTTGT
121912851	32497	NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg)	COL7A1	Apr 01, 1996	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	Recessive dystrophic epidermolysis bullosa	germline	3	48567736	CAGGGAGAAGCTGGTCCCCCAGGCCGCCCCGGGCTGGCAGGACACAAAGGAGAGATGGTGA
121917853	23906	NM_002181.3(IHH):c.391G>A (p.Glu131Lys)	IHH	Sep 01, 2009	Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388	Type A1 brachydactyly	germline	2	219057619	CAGTGGCCCGGTGTGAAGCTGCGGGTGACCGAGGGCTGGGACGAGGACGGCCACCACTCAG
41276738	15335	NM_000552.4(VWF):c.2561G>A (p.Arg854Gln)	VWF	Jul 18, 2017	MedGen:CN517202;MedGen:CN169374;MedGen:C1264039,OMIM:193400,Orphanet:ORPHA166078,SNOMED CT:128106003;MedGen:C1264040,OMIM:613554,Orphanet:ORPHA166081,SNOMED CT:128107007;MedGen:C1282975,Orphanet:ORPHA166093,SNOMED CT:359732009;MedGen:C0042974,Orphanet:ORPHA903,SNOMED CT:128105004	not provided;not specified;von Willebrand disease type 1;von Willebrand disease type 2;von Willebrand disease type 2N;von Willebrand disorder	germline	12	6034812	CCATGACTGCTCCTAGTGTCTGTCAGGACCGGAAGTGGAACTGCACAGACCATGTGTGTGA
372221490	213817	NM_213599.2(ANO5):c.762+1G>A	ANO5	Feb 05, 2016	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549	Limb-girdle muscular dystrophy, type 2L	germline	11	22236277	ACTTACTCATCTGCCTATCCACTCCATGATGTATGTATAGGTTTGATTGTGAAAATCTGAG
180177236	200511	NM_000030.2(AGXT):c.547G>A (p.Asp183Asn)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240873001	CTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCC
104894913	25545	NM_020061.5(OPN1LW):c.1013G>A (p.Gly338Glu)	OPN1LW	Jun 07, 2002	Human Phenotype Ontology:HP:0011522,MedGen:C0155015,OMIM:303900,SNOMED CT:51445007	Protan defect	germline	X	154158844	AGTTTCGAAACTGCATCTTGCAGCTTTTCGGGAAGAAGGTTGACGATGGCTCTGAACTCTC
201555148	441908	NM_000339.2(SLC12A3):c.506-1G>A	SLC12A3	Jan 07, 2015	MedGen:CN517202	not provided	germline	16	56869728	GCCCTGCCTAAGCTTTGGGTGCCCCCTGCAGTCCTGACCTGGATCATCATCCTGCTGTCGG
398124544	102394	NM_152419.2(HGSNAT):c.1250+1G>A	HGSNAT	Apr 28, 2015	MedGen:CN517202	not provided	germline	8	43191596	ATTCCTCCTGCCAGTCCCTGGGTGCCCTACGTAAGCGAACCCCTGGGGGTCATCCCTTGTG
587777259	131909	NM_001457.3(FLNB):c.517G>A (p.Ala173Thr)	FLNB	Mar 01, 2014	MedGen:C0265283,OMIM:108720,Orphanet:ORPHA1190	Atelosteogenesis type 1	germline	3	58077270	CAGAACTGGCAAGACGGCAAAGCCCTGGGAGCCCTGGTAGACAGCTGTGCTCCAGGTAAGT
121434588	29835	NM_000876.3(IGF2R):c.4391G>A (p.Gly1464Glu)	IGF2R	Oct 06, 2017	MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001	Hepatocellular carcinoma	somatic	6	160070006	AATACGTTGATGGCGACTTATGTCCAGATGGGATTCGGAAAAAGTCAACCACCATCCGATT
62508698	15619	NM_000277.2(PAH):c.838G>A (p.Glu280Lys)	PAH	Aug 04, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852819	AGACATGGATCCAAGCCCATGTATACCCCCGAACCGTGAGTACTGTCCTCCAGCTACCAGT
201938124	17695	NM_198428.2(BBS9):c.1789+1G>A	BBS9	Oct 25, 2016	MedGen:C1859567,OMIM:615986;MedGen:CN517202	Bardet-Biedl syndrome 9;not provided	germline	7	33367863	GAATTACTGTTCTTGCTTCCAAAACTTCTCGTAAGTAAAACCATGTTATCATTGCTTTTTA
63749869	28021	NM_000540.2(RYR1):c.14582G>A (p.Arg4861His)	RYR1	Jun 02, 2017	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:C2674259;MedGen:CN239331;MedGen:CN517202	Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;RYR1-Related Disorders;not provided	germline;unknown	19	38580440	TGTACACCGTGGTGGCCTTCAACTTCTTCCGCAAGTTCTACAACAAGAGCGAGGATGAGGA
587784048	168322	NM_133433.3(NIPBL):c.771+1G>A	NIPBL	Oct 05, 2015	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	de novo;germline	5	36971037	CTACACATGGTGCACAGGCTAAGTAGTGACGTATGTAATATATTATCATTAAGGTGATAAA
1057520768	372039	NM_017890.4(VPS13B):c.292-1G>A	VPS13B	Jun 04, 2015	MedGen:CN517202	not provided	germline	8	99096311	TTTTCTTTTTCTTTCTTTAAAATAAAAATAGGATGACCATGAAAGCTGTGGTTCTAATTCT
398123011	48564	NM_001199835.1(SNX10):c.152G>A (p.Arg51Gln)	SNX10	Apr 01, 2012	MedGen:C3554478,OMIM:615085	Osteopetrosis, autosomal recessive 8	germline	7	26364575	TGTGTTTTACAATGAAAACATCCTGTGTACGAAGAAGATATAGAGAATTCGTGTGGCTGAG
104886179	35859	NM_000495.4(COL4A5):c.2404G>A (p.Gly802Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108614919	AAACTGTATTTATTTCTTAAAGGTGATGTTGGACCAAATGGACAACCTGGACCAATGGGAC
367543074	51104	NM_152490.4(B3GALNT2):c.802G>A (p.Val268Met)	B3GALNT2	Jun 27, 2013	MedGen:C3554638,OMIM:615181;MedGen:CN517202	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11;not provided	germline;unknown	1	235465675	GGTGCATTGCCTCATGAATTCTTGGAAGGTGTGGAGGGAGTTGCAGGTGGTTTTATATATA
387906917	39455	NM_030928.3(CDT1):c.1385G>A (p.Arg462Gln)	CDT1	Mar 14, 2017	MedGen:C3151120,OMIM:613804;MedGen:CN517202	Meier-Gorlin syndrome 4;not provided	germline	16	88807390	AACGGCTGCCTGAGCTGGCCCGCGTGCTGCGGAGCGTCTTTGTGTCCGAACGCAAGCCTGC
104893691	23360	NM_000388.3(CASR):c.346G>A (p.Ala116Thr)	CASR	May 01, 1996	MedGen:C0342345,OMIM:601198	Hypocalcemia, autosomal dominant 1	germline	3	122257241	AAGGCCTTGGAAGCCACCCTGAGTTTTGTTGCTCAAAACAAAATTGATTCTTTGAACCTTG
200967229	237667	NM_000350.2(ABCA4):c.4352+1G>A	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline;unknown	1	94030427	CAACCGCTGCCTGAAGGAAGGGTGGCTTCCGTAAGTGCCTACGCGCCCCTGTCCTAAGAAG
121912656	27394	NM_000546.5(TP53):c.734G>A (p.Gly245Asp)	TP53	May 11, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	germline;somatic	17	7674229	ACTACATGTGTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCAT
879255555	247553	NM_018052.3(VAC14):c.1528+1G>A	VAC14	Jul 28, 2016	MedGen:C4310743,OMIM:617054	Striatonigral degeneration, childhood-onset	germline	16	70744422	CTGGCAGAGCCGGCCTACTGAACACCTCTGGTAAGTCTTCTCCTGAAGGTTCTAGCCTCAG
-1	452274	NM_145860.1(PDCD10):c.474+5G>A	PDCD10	Mar 21, 2017	MedGen:C1864040,OMIM:603285	Cerebral cavernous malformations 3	germline	3	167687610	AGAAATATCAATACCAGAACCGCAGGGTACGTTTAGTAGAAGCCTTGCTAGTTGACACCCT
121908636	21363	NM_000050.4(ASS1):c.40G>A (p.Gly14Ser)	ASS1	Apr 04, 2013	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130452268	AAAGGCTCCGTGGTTCTGGCCTACAGTGGCGGCCTGGACACCTCGTGCATCCTCGTGTGGC
1057518851	360829	NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)	TTN	Jun 29, 2014	Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myopathy	unknown	2	178571565	TTGAGAAACGGGACACTTCCACAACCACCTGGCAAATTGTATCAGCTACAGTTGCAAGGAC
80338922	34540	NM_024577.3(SH3TC2):c.1178-1G>A	SH3TC2	Mar 31, 2008	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949	Charcot-Marie-Tooth disease, type 4C	not provided	5	149028555	CAAGGTTGCTCAACTTTGCCTGTCCTTACAGCATCCCAGCCTGAAGGTTTCAAGGAGGTCA
368148362	223762	NM_001012339.2(DNAJC21):c.983+1G>A	DNAJC21	Dec 17, 2015	MedGen:C2986691	Inherited bone marrow failure syndrome	unknown	5	34941184	ATGTGACAAATCGTTCAAGACAGAAAAGGCGTAAGTTTATTAATTTAATTTAATTTAATTT
72650701	426965	NM_001171.5(ABCC6):c.2162G>A (p.Trp721Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182497	TGTGCTTCGGGCAGGAGCTGGACCCACCCTGGCTGGAGAGAGTACTAGAAGCCTGTGCCCT
28935493	25781	NM_000169.2(GLA):c.1025G>A (p.Arg342Gln)	GLA	Feb 03, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline;unknown	X	101398074	TTCAGGGAGACAACTTTGAAGTGTGGGAACGACCTCTCTCAGGCTTAGCCTGGGCTGTAGC
281874706	35599	NM_000495.4(COL4A5):c.286G>A (p.Gly96Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108568638	GGATTTTATTTCTTCTTATAGGGTCCTCCTGGACTTCCTGGATTTCCAGGGACACCAGGTC
1060503769	398031	NM_003002.3(SDHD):c.315G>A (p.Trp105Ter)	SDHD	Jun 14, 2016	MedGen:C1868633,OMIM:168000;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Paragangliomas 1;Pheochromocytoma	germline	11	112094805	TTGATGTTATGATTTTTTCTTTTTCTTTAGGGGCCTTGGACAAGTTGTTACTGACTATGTT
74315309	19227	NM_080738.3(EDARADD):c.424G>A (p.Glu142Lys)	EDARADD	Dec 29, 2011	MedGen:C0406702,OMIM:224900,Orphanet:ORPHA248,SNOMED CT:27025001;MedGen:C3539920,OMIM:614941	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	germline	1	236482455	TTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGA
772294726	487064	NM_174889.4(NDUFAF2):c.221G>A (p.Trp74Ter)	NDUFAF2	Sep 29, 2016	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	5	61098995	ACATTTAAATATTATTTTTCTTTCTAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTAC
121434286	18595	NM_000086.2(CLN3):c.883G>A (p.Glu295Lys)	CLN3	Aug 01, 2013	MedGen:C4017059;MedGen:C0751383,OMIM:204200,Orphanet:ORPHA79264,SNOMED CT:61663001	Ceroid lipofuscinosis, neuronal, 3, protracted;Juvenile neuronal ceroid lipofuscinosis	germline	16	28482500	ATTGTTCCCTTGGTCGTAGTTTACTTTGCCGAGTATTTCATTAACCAGGGACTTGTAAGTG
386834264	76974	NM_000720.3(CACNA1D):c.1208G>A (p.Gly403Asp)	CACNA1D	Jan 14, 2015	MedGen:C3809609,OMIM:615474,Orphanet:ORPHA369929;MedGen:CN517202	Primary aldosteronism, seizures, and neurologic abnormalities;not provided	de novo;germline	3	53673804	GCTCATTTTTCGTCCTTAACCTGGTTCTTGGTGTCCTTAGTGGGTAAGCAGTCGGATCCGT
397516955	54113	NM_004415.3(DSP):c.699G>A (p.Trp233Ter)	DSP	Oct 30, 2017	MedGen:C1843896,OMIM:607450;Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;not provided	germline	6	7562753	CATCCACAACTCCATCGGCGACTATCGCTGGCAGCTGGACAAAATCAAAGCCGACCTGGTA
59886214	29555	NM_170707.3(LMNA):c.1821G>A (p.Val607=)	LMNA	Jan 08, 2015	MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004;MedGen:CN517202	Hutchinson-Gilford syndrome;not provided	germline	1	156138610	GGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCC
-1	430993	NM_000426.3(LAMA2):c.7452-1G>A	LAMA2	Jun 07, 2017	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	inherited	6	129478692	TGCTTTTGCTTTTCATTTGACTATTCAATAGGCCAGAAGTAAATCTGAAGAAATATTCCGG
398124646	102600	NM_001966.3(EHHADH):c.7G>A (p.Glu3Lys)	EHHADH	Jan 09, 2014	MedGen:C3810100,OMIM:615605	Fanconi renotubular syndrome 3	germline	3	185254016	GGTGCCCTCGGTGATAGAGGAAACATGGCCGAGTATACGCGGCTGCACAACGCCTTGGCGC
773599043	359369	NM_000350.2(ABCA4):c.6816+1G>A	ABCA4	Aug 18, 2016	MedGen:CN517202	not provided	germline	1	93996108	CGAGCTGCTGGAGCCAGTCGACAAGCCCAGGTACCCCTGCTGCTTATGCAGTCCACAGCTT
397516349	52554	NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln)	TNNI3	Sep 29, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	19	55154145	TTCGAGGCAAGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCAGATGCCATGAT
864321714	217278	NM_006086.3(TUBB3):c.185G>A (p.Arg62Gln)	TUBB3	Jan 14, 2016	MedGen:C2748801,OMIM:600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	germline	16	89933486	CTCTCCCCTCAGCTCACAAGTACGTGCCTCGAGCCATTCTGGTGGACCTGGAACCCGGAAC
267606831	31265	NM_004960.3(FUS):c.1520G>A (p.Gly507Asp)	FUS	Apr 01, 2010	MedGen:C1842675,OMIM:608030	Amyotrophic lateral sclerosis type 6	germline	16	31191089	GCCGGGGTGGTGGGGACAGAGGTGGCTTTGGCCCTGGCAAGATGGATTCCAGGTAAGACTT
111033414	57527	NM_206933.2(USH2A):c.11048-1G>A	USH2A	Jun 13, 2010	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215759844	CAATAAAACCTCATTGCGTTATTCTTGCCAGGAGTTTGGGTGACACCTCGACACATTATCA
786201808	185288	NM_032043.2(BRIP1):c.1005G>A (p.Trp335Ter)	BRIP1	May 13, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61801388	ACAGACTTTCCAAGGGATGTGCAAAGCCTGGGATATAGAAGAACTTGTCAGCCTGGGGAAG
371518124	102484	NM_183050.3(BCKDHB):c.509G>A (p.Arg170His)	BCKDHB	May 13, 2015	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001;MedGen:CN517202	Maple syrup urine disease;not provided	germline	6	80168906	TTGTTAATGAAGCTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGGAAGCCT
121908061	19190	NM_000173.6(GP1BA):c.1077G>A (p.Trp359Ter)	GP1BA	Mar 01, 1990	MedGen:C3278148	Bernard-Soulier syndrome, type A1	germline	17	4933681	TAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCC
886041767	264909	NM_001111125.2(IQSEC2):c.2984G>A (p.Arg995Gln)	IQSEC2	Jun 21, 2016	MedGen:CN517202	not provided	germline	X	53241815	ACCGCCCCCAGAGGCTAGGGTTGCATCAGCGGGAGGTCTTCCTCTTCAATGATCTCCTTGT
1057523747	485845	NM_000044.4(AR):c.2258G>A (p.Arg753Gln)	AR	Jun 26, 2009	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67717562	TGGGGCTCATGGTGTTTGCCATGGGCTGGCGATCCTTCACCAATGTCAACTCCAGGATGCT
199422162	34436	NM_018136.4(ASPM):c.4074G>A (p.Trp1358Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197105177	TGTCCTTTCTTACCTTTTCCAGGGATATTGGAGAAGATATTCCACTAGACAAAGATTTCTG
121909601	31963	NM_000628.4(IL10RB):c.477G>A (p.Trp159Ter)	IL10RB	Nov 19, 2009	Gene:100270799,MedGen:C2675508,OMIM:612567	Inflammatory bowel disease 25, autosomal recessive	germline	21	33279897	TAACTCATGGACTTATAATGTGCAATACTGGAAAAACGGTACTGATGAAAAGGTAAGGTTG
878853238	237623	NM_016239.3(MYO15A):c.8467G>A (p.Asp2823Asn)	MYO15A	Feb 19, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18156202	CATGCCACCGGCCCATCCTCCAGCTTTGCAGATATCCTGTTTGTGACCATGCCCTCCCAGA
879255175	246565	NM_000527.4(LDLR):c.2311+1G>A	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11123345	CGGTGGAGATAGTGACAATGTCTCACCAAGGTAAAGACTGGGCCCTCCCTAGGCCCCTCTT
81002798	67270	NM_000059.3(BRCA2):c.8487+1G>A	BRCA2	May 26, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	germline	13	32370558	GTAATTATTCAAAGAGCATACCCTATACAGGTATGATGTATTCTTGAAACTTACCATATAT
397514340	36320	NM_000060.4(BTD):c.190G>A (p.Glu64Lys)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15635569	GAGGCTGAATATTATGTGGCTGCCGTGTATGAGCATCCATCCATCCTGAGTCTGAACCCTC
121912839	32486	NM_000094.3(COL7A1):c.6859G>A (p.Gly2287Arg)	COL7A1	May 28, 2015	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568;MedGen:C1843761,OMIM:607523;MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;MedGen:CN517202	Generalized dominant dystrophic epidermolysis bullosa;Nail disorder, nonsyndromic congenital, 8;Recessive dystrophic epidermolysis bullosa;not provided	germline	3	48572712	TAGGGGTCACCAGGTCTGCCTGGCCCTGTCGGACCTAAAGGAGAACCTGGCCCCACGGGGG
121909040	22255	NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu)	CFTR	Jul 01, 1994	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117642466	AGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAG
879255522	247394	NM_007174.2(CIT):c.1111+1G>A	CIT	Sep 02, 2016	MedGen:C4310723,OMIM:617090;MedGen:C3711387,Orphanet:ORPHA2512	Microcephaly 17, primary, autosomal recessive;Primary autosomal recessive microcephaly	germline;unknown	12	119822819	CTAAAATTGACTGGAACAACATTCGTAACTGTAAGTAGGGCTGTTTTCCTTAATTTGGGAT
121918594	28011	NM_000540.2(RYR1):c.7373G>A (p.Arg2458His)	RYR1	Oct 18, 2013	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN031421,OMIM:145600;MedGen:CN517202	Central core disease;Malignant hyperthermia, susceptibility to, 1;not provided	germline;unknown	19	38500655	GTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGG
534237033	193296	NM_014639.3(TTC37):c.2808G>A (p.Trp936Ter)	TTC37	Aug 22, 2017	MedGen:CN034858,OMIM:222470;MedGen:CN517202	Trichohepatoenteric syndrome 1;not provided	germline	5	95512589	GACTGAAGGAGCATTAGGTTATGCGTATTGGGTCTGCACAACATTGCAAGATAAAAGCAAC
587776402	36055	NM_000495.4(COL4A5):c.4199-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108686030	CATATTTGAATGCCTCATTCTTTTCCTGTAGGTCCAACTGGCCCTCCAGGAGATCCTGGAC
1057517713	359741	NM_017780.3(CHD7):c.5315G>A (p.Trp1772Ter)	CHD7	Oct 26, 2016	MedGen:CN517202	not provided	germline	8	60849065	AAATGTTGTCTTTCAGTGAAGCCGATGTGTGGATCCCTGAACCTTTCCATGCTGAAGTTCC
587777771	166024	NM_152296.4(ATP1A3):c.2452G>A (p.Glu818Lys)	ATP1A3	May 24, 2017	MedGen:C3553788,OMIM:614820;MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171;MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517;MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Alternating hemiplegia of childhood 2;Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss;Dystonia 12;Inborn genetic diseases;not provided	de novo;germline	19	41970275	CCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCAGGA
81002874	262840	NM_000059.3(BRCA2):c.7977-1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32363178	CTAAAATATGCATTTTTGTTTTCACTTTTAGATATGATACGGAAATTGATAGAAGCAGAAG
1064796970	409497	NM_000548.4(TSC2):c.4936G>A (p.Val1646Met)	TSC2	Mar 18, 2017	MedGen:C1860707,OMIM:613254;MedGen:CN517202	Tuberous sclerosis 2;not provided	germline	16	2086818	GACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGG
587779279	94908	NM_000179.2(MSH6):c.3647-1G>A	MSH6	Feb 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47806203	TTACTTCCTTATGCATATTTTACTTTAACAGGAAGAGGTACTGCAACATTTGATGGGACGG
56025238	16955	NM_001017922.1(ERMAP):c.169G>A (p.Gly57Arg)	ERMAP	Jan 15, 2003	na	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	germline	1	42830851	GAGCTGCTCTGCCCTCTCTCCCTCTGGCCCGGGACGGTACCCAAGGAGGTGAGGTGGCTGC
137854464	31476	NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys)	FBN1	Dec 22, 2016	MedGen:C1851286,OMIM:129600;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;not provided	de novo;germline	15	48425483	CGCTGTATTTCTTTGATCATAGATCTGAACGAGTGCAACCAGGCTCCCAAACCCTGCAATT
397515539	76543	NM_001287.5(CLCN7):c.643G>A (p.Gly215Arg)	CLCN7	Jun 20, 2013	MedGen:C1969106,OMIM:611490	Osteopetrosis autosomal recessive 4	not provided	16	1459139	GGAATCCCCCAGATCAAGTGCTTCCTCAACGGGGTGAAGATCCCCCACGTGGTGCGGCTCA
150619347	226233	NM_022786.2(ARV1):c.294+1G>A	ARV1	Oct 20, 2016	MedGen:CN235539;MedGen:C4310762,OMIM:617020	ARV1-related condition;Epileptic encephalopathy, early infantile, 38	biparental;germline	1	230988440	AGACATATTCTTTTCAATACTCAAATAAATGTAAGTTGTGATAATTTCATTTTTTAATTTT
587776559	18318	NM_024529.4(CDC73):c.238-1G>A	CDC73	Feb 01, 2005	MedGen:C1704981,OMIM:145001,Orphanet:ORPHA99880	Hyperparathyroidism 2	unknown	1	193130173	TTTCATATCTCATTTAAAATTTTGGTTTTAGACTGAAAATATTCCTGTGGTTAGAAGACCT
80338921	34553	NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter)	SH3TC2	Mar 31, 2008	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949	Charcot-Marie-Tooth disease, type 4C	not provided	5	149038376	TCATCGGCTTTGTCATACCTGGGCTTCAGTGGTTCATTGGAAAGTCGACAAGTTCAGGACA
80358456	65843	NM_000059.3(BRCA2):c.1689G>A (p.Trp563Ter)	BRCA2	Jul 13, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	13	32333167	ATGTCCAAATTTAATTGATAATGGAAGCTGGCCAGCCACCACCACACAGAATTCTGTAGCT
147014855	224832	NM_030780.4(SLC25A32):c.425G>A (p.Trp142Ter)	SLC25A32	Oct 05, 2016	MedGen:C4225187,OMIM:616839	Exercise intolerance, riboflavin-responsive	germline	8	103403291	CCATGACCCTCTGCATTACAAACCCATTATGGGTAACAAAAACTCGCCTTATGTTACAGTA
63750758	426876	NM_001171.5(ABCC6):c.3381G>A (p.Met1127Ile)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163118	AGCCAGCTACTCGTCTGTCTGCTCCCACATGGCTGAGACGTTCCAGGGCAGCACAGTGGTC
750325275	214736	NR_023343.1(RNU4ATAC):n.16G>A	RNU4ATAC	Nov 02, 2015	Gene:57788,MedGen:C1846059,OMIM:616651,Orphanet:ORPHA353298	Roifman syndrome	germline	2	121530895	GGGACTTTCTATTATAACCATCCTTTTCTTGGGGTTGCGCTACTGTCCAATGAGCGCATAG
397514529	48140	NM_001139.2(ALOX12B):c.1180G>A (p.Glu394Lys)	ALOX12B	Apr 01, 2007	MedGen:C1855792,OMIM:242100	Autosomal recessive congenital ichthyosis 2	germline	17	8077085	TGGGTACGCTATGCGGAGTTCTACAGCCACGAGGCCATCGCCCACCTGCTGGAGACACACC
587777009	70568	NM_006494.3(ERF):c.194G>A (p.Arg65Gln)	ERF	Mar 01, 2013	Human Phenotype Ontology:HP:0004443,MedGen:C1833340,OMIM:600775	Craniosynostosis 4	germline	19	42250394	TCGTCATCAAAGACCCTGATGAGGTGGCCCGGCTGTGGGGCGTTCGCAAGTGCAAGCCCCA
587779518	107139	NM_000090.3(COL3A1):c.665G>A (p.Gly222Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188989424	AGGGCCCTCCAGGACCTCCTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAAAGATGTAAG
1060500187	392351	NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter)	COL3A1	Dec 11, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189010187	TTCTTTTTTGTGACTATTCAGGAGAATACTGGGTTGACCCTAACCAAGGATGCAAATTGGA
770981889	430989	NM_001918.3(DBT):c.902G>A (p.Arg301His)	DBT	Jun 07, 2017	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	inherited	1	100214854	GAGAAGAATTAAAACCCATTGCATTTGCTCGTGGAATTAAACTCTCCTTTATGCCTTTCTT
727503948	177435	NM_000169.2(GLA):c.730G>A (p.Asp244Asn)	GLA	Mar 06, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398856	GATTCCTGGAAAAGTATAAAGAGTATCTTGGACTGGACATCTTTTAACCAGGAGAGAATTG
730881069	179852	NM_000363.4(TNNI3):c.407G>A (p.Arg136Gln)	TNNI3	Jan 05, 2015	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Hypertrophic cardiomyopathy;not provided	germline	19	55154172	CAGATCTGACTCAGAAGATCTTTGACCTTCGAGGCAAGTTTAAGCGGCCCACCCTGCGGAG
-1	455649	NM_138694.3(PKHD1):c.2811G>A (p.Trp937Ter)	PKHD1	May 08, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52043635	AGGGTCAACTCCCTGTGTCCATTCTGTGTGGTACTCCATTGGTATGATTTGTCACTTGGCT
137853280	358232	NM_000053.3(ATP7B):c.1708-1G>A	ATP7B	Dec 16, 2015	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	unknown	13	51965034	TCTGTGGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGACCTGCGCGTCCTGTGTC
772195825	443479	NM_000094.3(COL7A1):c.5173G>A (p.Gly1725Arg)	COL7A1	Jul 18, 2017	MedGen:CN517202	not provided	germline	3	48579650	TCTCTGCCACAGGGAGAGCCTGGGGACCGCGGACAAGAGGGTCCTCGAGGGCCCAAGGGTG
587779611	107077	NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997728	AGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAG
72653136	32330	NM_000088.3(COL1A1):c.2533G>A (p.Gly845Arg)	COL1A1	Oct 03, 1997	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50190027	AAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCATTGTGA
886043330	270416	NM_001848.2(COL6A1):c.1003-1G>A	COL6A1	Feb 08, 2016	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45990772	TCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGC
267607013	15539	NM_173560.3(RFX6):c.542G>A (p.Arg181Gln)	RFX6	Feb 11, 2010	MedGen:C2748662,OMIM:615710,Orphanet:ORPHA293864	Mitchell-Riley syndrome	germline	6	116882404	GCCAGAAGTTTCCCCTCCTAACAACAAGGCGGCTTGGAACAAGAGGCCATTCAAAGTAAGA
80051519	32860	NM_031226.2(CYP19A1):c.1094G>A (p.Arg365Gln)	CYP19A1	Jul 10, 1997	MedGen:C0878680,OMIM:613546,Orphanet:ORPHA91	Aromatase deficiency	germline	15	51212489	TGATGGAAAACTTCATTTATGAGAGCATGCGGTACCAGCCTGTCGTGGACTTGGTCATGCG
72645357	32351	NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)	COL1A1	Aug 14, 2015	MeSH:D010013,MedGen:C0029434,Orphanet:ORPHA666,SNOMED CT:78314001;MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004;MedGen:CN517202	Osteogenesis imperfecta;Osteogenesis imperfecta type III;Osteogenesis imperfecta with normal sclerae, dominant form;not provided	germline;unknown	17	50196163	CGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCTGTGAGTGTGGCCTGTAGGCCTC
886042173	265723	NM_001278074.1(COL5A1):c.2034+1G>A	COL5A1	Jun 23, 2015	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009	Ehlers-Danlos syndrome, classic type	germline	9	134763738	GTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGG
1057519436	362138	NM_138615.2(DHX30):c.1478G>A (p.Arg493His)	DHX30	Dec 18, 2017	Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:CN703736,OMIM:617804;Human Phenotype Ontology:HP:0000657,MedGen:C3489733;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Human Phenotype Ontology:HP:0000486,MedGen:C0038379;Human Phenotype Ontology:HP:0002317,MedGen:C0231686	Microcephaly;NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE;Oculomotor apraxia;Seizures;Short stature;Strabismus;Unsteady gait	de novo;germline	3	47846550	GCTGCAATGTTATCATCACCCAACCTCGCCGCATCTCTGCTGTGTCTGTGGCACAGCGGGT
34948328	30392	NM_000518.4(HBB):c.22G>A (p.Glu8Lys)	HBB	Nov 21, 1981	MedGen:CN169374	not specified	germline	11	5227000	ACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCA
373520843	389250	NM_016239.3(MYO15A):c.9572G>A (p.Arg3191His)	MYO15A	Jun 04, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18162639	ACCTGCAGAAAACCTTGCGCTTCGGAGGTCGTCTGGAGCTCCCCAGCAGCATAGAGCTTCG
-1	432047	NM_003002.3(SDHD):c.314+1G>A	SDHD	-	MedGen:C1708353,Orphanet:ORPHA29072	Hereditary Paraganglioma-Pheochromocytoma Syndromes	germline	11	112089012	GGCTGCAGCCCTCACTCTTCATGGTCACTGGCAAGTATAGCAATTCCAAATATAGTTGTCT
28940589	17133	NM_000920.3(PC):c.1828G>A (p.Ala610Thr)	PC	Jul 21, 2011	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001	Pyruvate carboxylase deficiency	germline	11	66851944	TGATCTGGGCCTCTCGGTTCCTGTGCAGGAGCCACGTTTGACGTCGCCATGCGCTTCCTGT
397515474	76960	NM_002336.2(LRP6):c.1418G>A (p.Arg473Gln)	LRP6	Sep 01, 2013	MedGen:C1970440,OMIM:610947	Coronary artery disease, autosomal dominant 2	germline	12	12179937	CTGACTGGGGAGAAATTCCGAAAATTGAGCGAGCAGCTCTGGATGGTTCTGACCGTGTAGT
121913146	29733	NM_000208.3(INSR):c.479G>A (p.Trp160Ter)	INSR	Jul 01, 1990	MedGen:C0271690,OMIM:610549,SNOMED CT:9859006	Insulin-resistant diabetes mellitus AND acanthosis nigricans	germline	19	7267518	ATGAGCTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAGGATAA
121909304	23201	NM_020297.3(ABCC9):c.4537G>A (p.Ala1513Thr)	ABCC9	Apr 01, 2004	MedGen:C1837839,OMIM:608569	Dilated cardiomyopathy 1O	germline	12	21801157	TCACAGCATCGAGTACACACTATTCTGACGGCAGACCTGGTTATTGTGATGAAGCGAGGAA
199473283	78826	NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His)	SCN5A	Jan 16, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;not provided	germline	3	38551495	TCTTCTCCCCGACGCTCTTCCGAGTCATCCGCCTGGCCCGAATAGGCCGCATCCTCAGACT
121907980	18977	NM_000520.5(HEXA):c.805+1G>A	HEXA	Jan 05, 2016	na;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Gm2-gangliosidosis, late onset;Tay-Sachs disease	germline;unknown	15	72350517	CTCCTGGCCACACTTTGTCCTGGGGACCAGGTAAGAATGATGTCTGGGACCAGAGGGACTC
796052645	203759	NM_172107.3(KCNQ2):c.1058G>A (p.Arg353His)	KCNQ2	Aug 25, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	germline	20	63433869	CCTGGAGATTCTACGCCACCAACCTCTCGCGCACAGACCTGCACTCCACGTGGCAGTACTA
137852629	24349	NM_000423.2(KRT2):c.1459G>A (p.Glu487Lys)	KRT2	Apr 01, 1999	MedGen:C0432306,OMIM:146800,Orphanet:ORPHA455,SNOMED CT:254169002;MedGen:C1838440,Orphanet:ORPHA289586;MedGen:CN517202	Ichthyosis bullosa of Siemens;Ichthyosis exfoliativa;not provided	germline	12	52646750	ATCGCCACCTACCGCAAACTGCTGGAGGGCGAGGAGTGCAGGTGAGGGCACTGGGAAGGGA
9332967	451158	NM_000348.3(SRD5A2):c.737G>A (p.Arg246Gln)	SRD5A2	Sep 02, 2016	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31526224	TCAAGATGTTTGAGGACTACCCCAAATCTCGGAAAGCCCTTATTCCATTCATCTTTTAAAG
1060500001	398791	NM_030962.3(SBF2):c.2536+1G>A	SBF2	Oct 24, 2016	MedGen:CN043578	Charcot-Marie-Tooth disease, type IV	germline	11	9853539	ACATCAAGAGCCTTCATTGCATGATACCAGGTAATCACTCTGCAGATATTAGAGAATCAGA
200322968	172323	NM_015910.6(WDPCP):c.160G>A (p.Asp54Asn)	WDPCP	Feb 01, 2015	MedGen:C1857587,OMIM:217085	Orstavik Lindemann Solberg syndrome	germline	2	63492856	TGGTCTTTGAAGAATACCTTACACATTGCGGGTAAATGAGCTCTGGATTAATTTCAATATT
61750061	22925	NM_000350.2(ABCA4):c.3106G>A (p.Glu1036Lys)	ABCA4	Jan 01, 1998	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94043420	TTCTATGCCCAGCTGAAAGGAAAGTCCCAGGAGGAGGCCCAGCTGGAGATGGAAGCCATGT
28933385	28437	NM_000311.4(PRNP):c.598G>A (p.Glu200Lys)	PRNP	Oct 02, 2014	MedGen:C0206042,OMIM:600072,Orphanet:ORPHA466,SNOMED CT:83157008;MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C0022336,OMIM:123400,Orphanet:ORPHA204,SNOMED CT:792004	Fatal familial insomnia;Genetic prion diseases;Jakob-Creutzfeldt disease	germline	20	4699818	ACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGG
121909341	23489	NM_012188.4(FOXI1):c.800G>A (p.Arg267Gln)	FOXI1	Jun 01, 2007	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Pendred's syndrome	germline	5	170108274	CAGGGGGCACCACCAGCTCCCCAGAGAAGCGGCCCTCCCCTCCCCCATCAGGCGCCCCTTG
387907175	40309	NM_000428.2(LTBP2):c.4313G>A (p.Cys1438Tyr)	LTBP2	Jan 01, 2011	MedGen:C1562061,OMIM:251750,SNOMED CT:416671000	Microspherophakia	germline	14	74505039	GCCGGAACACCACACAGGCTGAATGCTGCTGCACCCAGGGCGCTAGCTGGGGAGATGCCTG
80282562	57854	NM_000492.3(CFTR):c.532G>A (p.Gly178Arg)	CFTR	May 21, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN236562;MedGen:CN517202	Cystic fibrosis;ivacaftor response - Efficacy;not provided	germline;unknown	7	117534318	TCAAGCCGTGTTCTAGATAAAATAAGTATTGGACAACTTGTTAGTCTCCTTTCCAACAACC
63750427	426883	NM_001171.5(ABCC6):c.3341G>A (p.Arg1114His)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163158	TGTATGTGGTTAGCTCATGCCAGCTGAGACGCTTGGAGTCAGCCAGCTACTCGTCTGTCTG
1064792878	224794	NM_001953.4(TYMP):c.1300+1G>A	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526000	TGGTCGACGTGGGTCAGAGGCTGCGCCGTGGTGAGCGCCGCCCCCGCCCTGCTGGCCCCGC
-1	425494	NM_001135659.2(NRXN1):c.2205G>A (p.Trp735Ter)	NRXN1	May 30, 2017	MedGen:CN517202	not provided	germline	2	50538311	CAAAAACAATGGCATGTGCAGGGATGGGTGGAACAGATATGTCTGTGATTGTTCCGGAACA
121912841	166069	NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg)	COL7A1	Feb 01, 2002	MedGen:C0268371,OMIM:132000,SNOMED CT:2689001;MedGen:C1843761,OMIM:607523;MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	Dominant dystrophic epidermolysis bullosa with absence of skin;Nail disorder, nonsyndromic congenital, 8;Recessive dystrophic epidermolysis bullosa	germline;unknown	3	48578497	GACTTTTTCCAGGGGCTTCCAGGCCTCCGTGGAGAACAGGGCCTCCCTGGCCCCTCTGGTC
878853682	242084	NM_000138.4(FBN1):c.434G>A (p.Cys145Tyr)	FBN1	Apr 16, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48600147	TATGCCAGAAAGGATACATAGGGACTCACTGTGGACAACGTAAGTACACTGTAGTTATAAG
-1	427066	NM_001171.5(ABCC6):c.600+1G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16214323	CCCTTCTTCCCTGAAGACCCCCAGCAGTCTGTAAGTCACCAAGTTCCAACCTCATTCCTGT
794727501	240397	NM_004820.4(CYP7B1):c.525G>A (p.Trp175Ter)	CYP7B1	Feb 18, 2016	MedGen:C0037772	Spastic paraplegia	germline	8	64616016	TGAACCCCAGCTGTTAAAAACCACAAGTTGGGACACGGCAGAACTGTATCCATTCTGCAGC
1057517373	358637	NM_000071.2(CBS):c.954+1G>A	CBS	Oct 19, 2016	MedGen:C3150344,OMIM:236200	Homocystinuria due to CBS deficiency	unknown	21	43062952	GACTTCATCCCCACGGTGCTGGACAGGACGGTAGGTCGAGTCCAGAGCCCGGCCACAGTGC
121908483	20823	NM_014270.4(SLC7A9):c.775G>A (p.Gly259Arg)	SLC7A9	Sep 01, 1999	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	19	32859939	CCCAGAAACCTGCCTTTGGCCATTATCATCGGGATCCCCCTGGTGACGGCGTGCTACATCC
267606897	24741	m.13513G>A	MT-ND5;MT-TL1	May 22, 2017	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838951;MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN517202	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial diseases;not provided	germline	MT	13513	ATACCTTTCCTCACAGGTTTCTACTCCAAAGACCACATCATCGAAACCGCAAACATATCAT
62644499	15656	NM_000277.2(PAH):c.1243G>A (p.Asp415Asn)	PAH	Jul 20, 2017	Human Phenotype Ontology:HP:0004923,MedGen:C0751435;MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Hyperphenylalaninemia, non-pku;Phenylketonuria;not provided	germline;unknown	12	102840472	ACAATACCTCGGCCCTTCTCAGTTCGCTACGACCCATACACCCAAAGGATTGAGGTCTTGG
80356651	24147	NM_000352.4(ABCC8):c.1144G>A (p.Glu382Lys)	ABCC8	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	germline	11	17453151	TTTCTGCAAGCATCCTACTATGTGGCCATTGAAACTGGAATTAACTTGAGAGGAGCAATAC
28942078	18733	NM_000527.4(LDLR):c.1285G>A (p.Val429Met)	LDLR	Jun 03, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11113376	TACACCAGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCA
104894638	20152	NM_000199.3(SGSH):c.449G>A (p.Arg150Gln)	SGSH	Jan 01, 1998	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006	Mucopolysaccharidosis, MPS-III-A	germline	17	80214672	AGGAGAATGGCTCCGTCCTCCAGGTGGGGCGGAACATCACTAGAATTAAGCTGCTCGTCCG
886039424	259761	NM_000249.3(MLH1):c.1997G>A (p.Trp666Ter)	MLH1	May 13, 2015	MedGen:CN517202	not provided	germline	3	37048911	GGTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTTTGAAAGCCT
863225218	214354	NM_015272.4(RPGRIP1L):c.1243+1G>A	RPGRIP1L	Feb 23, 2015	MedGen:C1969053,OMIM:611560	Joubert syndrome 7	unknown	16	53664869	AAATCCTTGACAGATTAAAAACTGAAAGAGGTACATTTGAAATAACCACTGCCTTACTCAT
786204718	186895	NM_000053.3(ATP7B):c.2668G>A (p.Val890Met)	ATP7B	Aug 23, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline;unknown	13	51950069	CATGGCTCTGTGCTCATTAAAGCTACCCACGTGGGCAATGACACCACTTTGGCTCAGATTG
-1	432174	NM_000444.5(PHEX):c.1754G>A (p.Gly585Glu)	PHEX	Oct 31, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22219089	GAGTAATTGTCGGACATGAATTTACACATGGATTTGATAATAATGGTAAGTACCGGTTCAT
587779544	106994	NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188993452	CTGGACCTCAGGGACACGCTGGTGCTCAAGGTCCTCCTGTAAGTATCATAGTTGAGAGGGA
121913315	186283	NM_000455.4(STK11):c.580G>A (p.Asp194Asn)	STK11	Apr 28, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0027672,SNOMED CT:699346009;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:ORPHA2869,SNOMED CT:54411001	Adenocarcinoma of lung;Hereditary cancer-predisposing syndrome;Neoplasm;Peutz-Jeghers syndrome	germline;somatic	19	1220488	CTCACCACCGGTGGCACCCTCAAAATCTCCGACCTGGGCGTGGCCGAGGTAGGCACGTGCT
1060501114	393549	NM_198056.2(SCN5A):c.2636G>A (p.Trp879Ter)	SCN5A	Nov 30, 2016	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005	Brugada syndrome	germline	3	38585842	GGGACAGCGACTCAGGCCTGCTGCCTCGCTGGCACATGATGGACTTCTTTCATGCCTTCCT
121913139	29726	NM_000208.3(INSR):c.3481G>A (p.Ala1161Thr)	INSR	Aug 01, 1990	Human Phenotype Ontology:HP:0000855,MedGen:C0021655;MedGen:C0271690,OMIM:610549,SNOMED CT:9859006	Insulin resistance;Insulin-resistant diabetes mellitus AND acanthosis nigricans	germline	19	7122662	AACGCCAAGAAGTTTGTGCATCGGGACCTGGCAGCGAGAAACTGCATGGTCGCCCATGATT
104895461	19733	NM_022162.2(NOD2):c.1001G>A (p.Arg334Gln)	NOD2	Aug 16, 2015	MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464;MedGen:CN517202	Blau syndrome;Sarcoidosis, early-onset;not provided	germline	16	50710912	AATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTC
121918593	28009	NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg)	RYR1	Dec 29, 2016	MedGen:CN031421,OMIM:145600;MedGen:CN239331;MedGen:CN517202	Malignant hyperthermia, susceptibility to, 1;RYR1-Related Disorders;not provided	germline;unknown	19	38499993	TCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGAC
63750232	419394	NM_000251.2(MSH2):c.2074G>A (p.Gly692Arg)	MSH2	Mar 18, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47476435	ACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAG
121964950	27073	NM_000892.4(KLKB1):c.1205G>A (p.Trp402Ter)	KLKB1	Dec 01, 2003	MedGen:C0272339,OMIM:612423,Orphanet:ORPHA749,SNOMED CT:48976006	Prekallikrein deficiency	germline	4	186252077	TTGGAGGAACAAACTCTTCTTGGGGAGAGTGGCCCTGGCAGGTGAGCCTGCAGGTGAAGCT
121918621	27943	NM_003041.3(SLC5A2):c.1320G>A (p.Trp440Ter)	SLC5A2	Dec 01, 2002	Gene:2759,MedGen:C0017980,OMIM:233100,Orphanet:ORPHA69076,SNOMED CT:226309007	Familial renal glucosuria	germline	16	31488919	GGTGTTCATCGTGGTAGTGTCGGTGGCCTGGCTTCCCGTGGTGCAGGCGGCACAGGGCGGG
121909607	31443	NM_000508.4(FGA):c.104G>A (p.Arg35His)	FGA	Dec 20, 2012	Human Phenotype Ontology:HP:0011901,MedGen:C1260903,SNOMED CT:111589005	Dysfibrinogenemia	germline	4	154589513	GTGACTTTCTAGCTGAAGGAGGAGGCGTGCGTGGCCCAAGGGTTGTGGAAAGACATCAATC
774271963	263767	NM_005506.3(SCARB2):c.704+5G>A	SCARB2	Mar 05, 2015	MedGen:C0751779,OMIM:254900,Orphanet:ORPHA163696	Epilepsy, progressive myoclonic 4, with or without renal failure	germline	4	76176432	AAAATTGTGGAATGGAATGGGAAAACGTAAGTCAAATGATTTATCAGTGGAATTATTTTTT
121965029	26961	NM_000203.4(IDUA):c.266G>A (p.Arg89Gln)	IDUA	Feb 11, 2016	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473;MedGen:C0023786,Orphanet:ORPHA579;MedGen:C0086431,OMIM:607015,Orphanet:ORPHA93476,SNOMED CT:26745009	Hurler syndrome;Mucopolysaccharidosis type I;Mucopolysaccharidosis, MPS-I-H/S	germline	4	987916	CCGTCCCTCACCGCGGCATCAAGCAGGTCCGGACCCACTGGCTGCTGGAGCTTGTCACCAC
80356601	34704	NM_194248.2(OTOF):c.4559G>A (p.Arg1520Gln)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26466018	ACGGCAAAGCTGACCCCTACATCGCCATCCGGCTAGGCAAGACTGACATCCGCGACAAGGA
1805076	21660	NM_181699.2(PPP2R1B):c.269G>A (p.Gly90Asp)	PPP2R1B	Apr 01, 2002	MedGen:C0684249,OMIM:211980,SNOMED CT:187875007	Lung cancer	unknown	11	111764842	CTCTTGCTGAGCAGCTGGGAAATTTCACTGGCCTAGTGGGAGGTCCTGACTTTGCCCACTG
121908537	21016	NM_003850.2(SUCLA2):c.352G>A (p.Gly118Arg)	SUCLA2	Mar 01, 2007	MedGen:C2749864,OMIM:612073,Orphanet:ORPHA1933	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	germline	13	47988901	AAAGGAACATTTGAAAGTGGCCTCAAAGGAGGAGTGAAGATAGTTTTCTCGTAAGTCACAT
587779635	107113	NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp)	COL3A1	Jun 09, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188990344	AAGGTCCAGCTGGGATACCTGGATTCCCTGGTATGAAAGGACACAGAGTAAGTAGAGTTTC
368217569	247428	NM_018191.3(RCBTB1):c.919G>A (p.Val307Met)	RCBTB1	Nov 01, 2016	MedGen:C4310680,OMIM:617175;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinal dystrophy with or without extraocular anomalies;Retinitis pigmentosa	germline	13	49549584	ACGTCTGCAGCCAAGACGCAGGGTGGGCACGTGTACATGTGGGGCCAGTGCCGGGGTCAGT
587779620	107088	NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188998303	CTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACCTGGGGAACCAGTAAGTTACGTTTC
1064797088	413170	NM_004004.5(GJB2):c.136G>A (p.Asp46Asn)	GJB2	Dec 22, 2016	MedGen:C2675750,OMIM:601544	Deafness, autosomal dominant 3a	germline	13	20189446	CTCGTTGTGGCTGCAAAGGAGGTGTGGGGAGATGAGCAGGCCGACTTTGTCTGCAACACCC
33971440	30475	NM_000518.4(HBB):c.92+1G>A	HBB	Jul 19, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:C0271980,SNOMED CT:86715000;MedGen:CN517202;MedGen:CN169374	beta Thalassemia;beta^0^ Thalassemia;not provided;not specified	germline;unknown	11	5226929	GGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTTTAAG
780336679	420287	NM_002334.3(LRP4):c.316+1G>A	LRP4	Mar 21, 2017	MedGen:C1859309,OMIM:212780,Orphanet:ORPHA3258	Syndactyly Cenani Lenz type	biparental	11	46900261	GTGAGGATGACTCGGATGAGCAGGACTGTCGTGAGTGTTGGCAGAGGCTGGGCGGAACTCC
1057516046	353891	NM_001615.3(ACTG2):c.613G>A (p.Ala205Thr)	ACTG2	Aug 21, 2015	MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241	Visceral myopathy	de novo	2	73913646	ACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGG
886041853	265064	NM_000444.5(PHEX):c.941G>A (p.Trp314Ter)	PHEX	May 04, 2017	MedGen:CN517202	not provided	germline	X	22099013	TGTTTTGTTCTCTCTCCCCTCAGTTCGACTGGCTGGGCTACATCAAGAAGGTCATTGACAC
1057516081	354027	NM_172107.3(KCNQ2):c.476G>A (p.Gly159Glu)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63445276	GCTGCTGCTGCCGGTACCGTGGCTGGAGGGGGCGGCTCAAGTTTGCCCGGAAACCGTTCTG
863223318	39810	NM_014915.2(ANKRD26):c.-134G>A	ANKRD26	Jan 07, 2011	MedGen:C1861185,OMIM:188000	Thrombocytopenia 2	germline	10	27100460	CTAGCGGGATCGCTTGCTTGGTAACCCGGAGGGAGAGATTGGAAACCGCGGAGTTTCCTTT
781161543	358920	NM_002878.3(RAD51D):c.576+1G>A	RAD51D	Jun 26, 2017	MedGen:C3280345,OMIM:614291	Breast-ovarian cancer, familial 4	germline;unknown	17	35106385	CAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTA
-1	427116	NM_001201401.1(GALC):c.194G>A (p.Gly65Glu)	GALC	Jul 28, 2017	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005	Galactosylceramide beta-galactosidase deficiency	germline	14	87992971	TCGACGGCATCGGCGCGGTCAGCGGCGGCGGGGTGAGCGGCAAGCTGCGGGGATACGCGGG
875989907	228147	NM_000527.4(LDLR):c.796G>A (p.Asp266Asn)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11106666	GACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCT
886039409	260288	NM_000425.4(L1CAM):c.2092G>A (p.Gly698Arg)	L1CAM	May 05, 2017	MedGen:CN517202	not provided	germline	X	153867401	AGGGTTACTGCCATAAACAAATATGGCCCCGGGGAGCCCAGCCCGGTCTCTGAGACTGTGG
587777251	130975	NM_033419.4(PGAP3):c.275G>A (p.Gly92Asp)	PGAP3	Feb 06, 2014	MedGen:C3810354,OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	germline	17	39685926	AGGAAGGTCACAAAGTGCCTCAGTTCCATGGCAAGGTGAGTTGGAGGGTCAGGGTAGGCAT
121918251	16919	NM_000255.3(MUT):c.278G>A (p.Arg93His)	MUT	Jan 07, 2016	MedGen:C1855115;MedGen:C1855114,OMIM:251000	METHYLMALONIC ACIDURIA, mut(0) TYPE;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459189	AAGAACTTCCAGGAGTGAAGCCATTCACACGTGGACCATATCCTACCATGTATACCTTTAG
794727365	192858	NM_025074.6(FRAS1):c.2722+1G>A	FRAS1	Dec 19, 2014	MedGen:C0265233,OMIM:219000,SNOMED CT:204102004;MedGen:CN517202	Cryptophthalmos syndrome;not provided	germline	4	78364055	ACTATCTTGATGACAATCATGTTTGCCAGCGTAGGTTTTTCCAATGAACCTTCTCTCCTTT
199473631	78866	NM_198056.2(SCN5A):c.5287G>A (p.Val1763Met)	SCN5A	Jul 05, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	3	38551085	ACCACCTACATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATTGCCATCATCCTGG
886039405	260291	NM_000425.4(L1CAM):c.807-6G>A	L1CAM	Dec 28, 2016	MedGen:C0037772;MedGen:CN517202	Spastic paraplegia;not provided	germline	X	153870246	CTCCCTTCTGCTCTCTTCCCTTTGCCTCCCGGGCAGTCCCACGCCCACCATCAAATGGCTG
770050262	200678	NM_138413.3(HOGA1):c.834G>A (p.Ala278=)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97601990	GCAGCACCGCCTCATTGAGCCAAACGCTGCGGTGAGCCAGTGGCAGCGGGGGCGCGGCCTG
587779505	106948	NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004028	CAGGTCCCAGCGGTTCTCCAGGCAAGGATGGGCCCCCAGGTCCTGCGGGTAACACTGGTGC
397509284	70248	NM_007294.3(BRCA1):c.5445G>A (p.Trp1815Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43047665	CCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGGTAAGGTG
863223408	210238	NM_000020.2(ACVRL1):c.1451G>A (p.Arg484Gln)	ACVRL1	Dec 04, 2016	Human Phenotype Ontology:HP:0000421,MedGen:C0014591;MedGen:C1838163,OMIM:600376;Human Phenotype Ontology:HP:0002092,MedGen:C3203102;MedGen:C1832529;MedGen:CN517202;MedGen:CN169374	Epistaxis;Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not provided;not specified	germline;paternal;unknown	12	51920832	CAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAAAAAATTAGCAA
121908247	79323	NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln)	CACNA1A	Jun 16, 2017	MedGen:CN225416;Human Phenotype Ontology:HP:0002280,MedGen:C1853377;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C0752124,OMIM:183086,Orphanet:ORPHA98758;MedGen:CN517202	Chronic and progressive ataxia;Enlarged cisterna magna;Global developmental delay;Spinocerebellar ataxia 6;not provided	germline;uniparental;unknown	19	13235693	TCATCAACCTGAGCTTTCTCCGCCTCTTCCGAGCTGCCCGGCTCATCAAACTTCTCCGTCA
606231364	31547	NM_000043.5(FAS):c.73G>A (p.Ala25Thr)	FAS	Apr 01, 1999	MedGen:C1866119	Autoimmune lymphoproliferative syndrome, type 1a	germline	10	89003071	GTTGCTAGATTATCGTCCAAAAGTGTTAATGCCCAAGTGACTGACATCAACTCCAAGGGAT
118204062	16569	NM_000237.2(LPL):c.809G>A (p.Arg270His)	LPL	Jun 29, 2017	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004;MedGen:CN517202	Hyperlipoproteinemia, type I;not provided	germline	8	19955874	TGGACCAGCTAGTGAAGTGCTCCCACGAGCGCTCCATTCATCTCTTCATCGACTCTCTGTT
1057517884	360424	NM_145068.3(TRPV3):c.1703G>A (p.Gly568Asp)	TRPV3	Nov 02, 2016	MedGen:CN517202	not provided	germline	17	3524238	GCTGGGCGAACATGCTCTACTATACGCGGGGTTTCCAGTCCATGGGCATGTACAGCGTCAT
730880450	179872	NM_000169.2(GLA):c.713G>A (p.Ser238Asn)	GLA	Sep 14, 2015	MedGen:CN517202	not provided	germline	X	101398873	ATTTTGCTGACATTGATGATTCCTGGAAAAGTATAAAGAGTATCTTGGACTGGACATCTTT
796065047	204354	NM_012096.2(APPL1):c.280G>A (p.Asp94Asn)	APPL1	Jul 02, 2015	MedGen:C4225299,OMIM:616511	Maturity-onset diabetes of the young, type 14	germline	3	57238111	TCTACATTGCAACAGTTTTCAAAAGTTATAGATGAGGTAAACGTTTATTTTATTTTGCTTG
1114167390	413999	NM_000088.3(COL1A1):c.2235+1G>A	COL1A1	-	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	unknown	17	50191382	GCTGGTCTTCCAGGGCCTAAGGGTGACAGAGTAAGTTCAACCTTCCCCCTCCCCTGAGCCC
137853050	22116	NM_006009.3(TUBA1A):c.1265G>A (p.Arg422His)	TUBA1A	Jun 09, 2016	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011;MedGen:CN517202	Lissencephaly 3;not provided	germline	12	49185101	GGATGGAGGAAGGTGAGTTTTCAGAGGCCCGTGAGGACATGGCTGCCCTTGAGAAGGATTA
886044722	237705	NM_000350.2(ABCA4):c.206G>A (p.Trp69Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline	1	94111534	AGGCGATGCCCTCAGCAGGAATGCTGCCGTGGCTCCAGGGGATCTTCTGCAATGTGAACAA
863225241	214392	NM_002004.3(FDPS):c.536G>A (p.Arg179Gln)	FDPS	Jul 23, 2015	MedGen:C4225262,OMIM:616631	Porokeratosis 9, multiple types	germline	1	155317996	ATGACATCATGGATTCATCCCTTACCCGCCGGGGACAGATCTGCTGGTATCAGAAGGTAAT
137852499	25113	NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser)	HPRT1	May 12, 2011	na;MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004	HPRT URANGAN;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	germline	X	134473377	TTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTA
587779698	107205	NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999525	CTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAG
1025339570	475420	NM_000051.3(ATM):c.1178G>A (p.Trp393Ter)	ATM	May 10, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108249045	CTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTC
1085307152	414078	NM_001204.6(BMPR2):c.39G>A (p.W13*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377513	CTCGCTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGCTGGTCAGCACT
863225178	214175	NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15557349	GAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTT
1800171	18174	NM_000218.2(KCNQ1):c.1032G>A (p.Ala344=)	KCNQ1	Sep 01, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Long QT syndrome;Long QT syndrome 1;Long QT syndrome 2;not provided	germline	11	2583545	CTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGG
199422252	47539	NM_001363.4(DKC1):c.1156G>A (p.Ala386Thr)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154774602	TCTAATGTTGACACCTTGATGTTCCACCAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGG
397514979	75903	NM_000548.4(TSC2):c.3623G>A (p.Trp1208Ter)	TSC2	Dec 29, 2016	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2081607	GTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCC
138672528	166367	NM_144773.3(PROKR2):c.343G>A (p.Val115Met)	PROKR2	Sep 01, 2008	MedGen:C2930927,OMIM:244200	Kallmann syndrome 3	germline	20	5314027	ATCTGCTGCCCCTTCGAGATGGACTACTACGTGGTACGGCAGCTCTCCTGGGAGCATGGCC
-1	440855	NM_000297.3(PKD2):c.1898+5G>A	PKD2	Jul 21, 2017	MedGen:CN517202	not provided	germline	4	88056272	GACTTCAGTACTTTCCAAGAGTGTATGTAAGTATATATGAAATTAAGAAGAAAAATTTAAT
267607507	77385	NM_002055.4(GFAP):c.613G>A (p.Glu205Lys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44913733	GAGGAGATCCGGTTCTTGAGGAAGATCCACGAGGAGGTGAGGCCAGGGCAGAGGGAGGAAA
777756488	360014	NM_014384.2(ACAD8):c.567+1G>A	ACAD8	Jun 23, 2015	MedGen:CN517202	not provided	germline	11	134259085	GGAGATCATTACATCCTCAATGGCTCCAAGGTACTAGCGTGCGTCCTCCCAGAGCACTTTG
748365248	269998	NM_138694.3(PKHD1):c.707+1G>A	PKHD1	Feb 05, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;unknown	6	52070405	TGTTAGCTTCTCAGTATTTAACAAAGGAAAGTAAGTAACTGGGTATAGAAATAGGCAAATT
121909721	31199	NM_002437.4(MPV17):c.149G>A (p.Arg50Gln)	MPV17	May 17, 2012	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229	Navajo neurohepatopathy	germline	2	27313031	GGCGGGGTCTGCAGGAACACCAGAGAGGCCGGACTCTGACCATGGTGTCCCTGGGCTGTGG
863225075	214568	NM_001164144.2(CHAMP1):c.1544G>A (p.Trp515Ter)	CHAMP1	Oct 16, 2015	MedGen:CN517202	not provided	germline	13	114325386	CTGAGTCCCCCAAAGCAGCCTCAGATATCTGGAAGCCTGTTCTCTCTATCGATACTGAGCC
878854769	243071	NM_005359.5(SMAD4):c.906G>A (p.Trp302Ter)	SMAD4	Apr 19, 2017	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	germline	18	51059867	AAATGGAATTTTTGTTGTCTTTTCTTTAGGGCCTGTTCACAATGAGCTTGCATTCCAGCCT
121918681	27660	NM_001063.3(TF):c.229G>A (p.Asp77Asn)	TF	Oct 15, 2004	MedGen:C1859593,OMIM:209300	Atransferrinemia	germline	3	133753607	TGGCCTGTTCTCTTTCAGGCAAACGAAGCGGATGCTGTGACACTGGATGCAGGTTTGGTGT
104894685	31525	NM_000146.3(FTL):c.286G>A (p.Ala96Thr)	FTL	Aug 23, 2005	MedGen:C1853578,OMIM:606159,Orphanet:ORPHA157846	Neuroferritinopathy	germline	19	48966317	GCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAA
879255672	247660	NM_144997.5(FLCN):c.1098G>A (p.Trp366Ter)	FLCN	Jul 18, 2016	MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001	Multiple fibrofolliculomas	germline	17	17217147	GGGTGCCCCTTCTTTCCGCATGCTGGCCTGGCACGTTCTCATGGGGAACCAGGTGATCTGG
112660651	197823	NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr)	FBN1	Jun 26, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48610808	GTTTATTCACAGCCATTTGCCGGCATTCCTGTGGGGATGGATTTTGTTCGAGGCCAAATAT
121908833	21227	NM_003680.3(YARS):c.121G>A (p.Gly41Arg)	YARS	Feb 01, 2006	MedGen:C1842237,OMIM:608323,Orphanet:ORPHA100045	Charcot-Marie-Tooth disease, dominant intermediate C	germline	1	32810994	CTGAAGGAGCGGGAACTTAAAATTTACTGGGGAACGGCAACCACGGGCAAACCACATGTGG
28933401	27959	NM_000702.3(ATP1A2):c.2066G>A (p.Arg689Gln)	ATP1A2	Jul 15, 2014	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160135246	TCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGT
-1	472236	NM_002875.4(RAD51):c.749G>A (p.Arg250Gln)	RAD51	Dec 20, 2017	MedGen:C3281089,OMIM:614508	Mirror movements 2	germline	15	40729609	CCAGGCAGATGCACTTGGCCAGGTTTCTGCGGATGCTTCTGCGACTCGCTGATGAGGTAAG
104894174	22627	NM_006214.3(PHYH):c.824G>A (p.Arg275Gln)	PHYH	May 01, 2000	MedGen:C2749345	Refsum disease, adult, 1	germline	10	13283694	GATCTGGTCAGAATAAAACCCAGGGATTCCGGAAGGTAAGCATTCACATTGCTGCACCTGC
81002846	67105	NM_000059.3(BRCA2):c.793+1G>A	BRCA2	Oct 09, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN169374	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	germline	13	32331031	ACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTT
137852521	25030	NM_000425.4(L1CAM):c.551G>A (p.Arg184Gln)	L1CAM	Jul 01, 1994	MedGen:C0265216,OMIM:307000,Orphanet:ORPHA2182,SNOMED CT:71779008	X-linked hydrocephalus syndrome	germline	X	153870933	CAGAGATCTTGCACATCAAGCAGGACGAGCGGGTGACGATGGGCCAGAACGGCAACCTCTA
387907227	44204	NM_020297.3(ABCC9):c.3347G>A (p.Arg1116His)	ABCC9	May 18, 2012	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517	Hypertrichotic osteochondrodysplasia	germline	12	21842440	ACATCCCTCCAACCTTGGAATCTCTAACTCGCTCAACACTGCTCTGCCTGTCTGCCATTGG
28933368	28917	NM_001005862.2(ERBB2):c.2650G>A (p.Glu884Lys)	ERBB2	Mar 08, 2013	MedGen:C2750850,OMIM:137800	Glioma susceptibility 1	somatic	17	39725721	CCTGTCTCTGCCTTAGGTGTGACTGTGTGGGAGCTGATGACTTTTGGGGCCAAACCTTACG
563189672	432254	NM_023936.1(MRPS34):c.322-10G>A	MRPS34	Sep 15, 2017	MedGen:CN469327,OMIM:617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	germline	16	1772656	GAGCTTTGCGAGCTGACCCCGCTTCCTTCTGGCTTTGCAGAACTTGGACCACGGGAAGGCC
-1	453057	NM_004656.3(BAP1):c.587G>A (p.Trp196Ter)	BAP1	Mar 22, 2017	MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539	Tumor susceptibility linked to germline BAP1 mutations	germline	3	52406901	ATTCCTTGTCTTGGTCTCCACTAGGGCCCTGGGGGGAGGACGAGGAGTGGACAGACAAGGC
1085307157	414084	NM_001204.6(BMPR2):c.76+5G>A	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377555	CATCCTGCTGGTCAGCACTGCGGCTGGTGAGTAGCTCCGGCCGGCACGTCCCGGCCACTGC
886040347	261056	NM_000059.3(BRCA2):c.1184G>A (p.Trp395Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32332662	AGGAAGTTGTACCGTCTTTGGCCTGTGAATGGTCTCAACTAACCCTTTCAGGTCTAAATGG
62645748	48213	NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1	Mar 16, 2017	MedGen:C3151202,OMIM:613835;MedGen:C3151202,OMIM:613835;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C1838647,OMIM:600105;MedGen:C1838647,OMIM:600105;MedGen:CN517202	Leber congenital amaurosis 8;Leber congenital amaurosis 8;Retinal dystrophy;Retinitis pigmentosa 12;Retinitis pigmentosa 12;not provided	germline;unknown	1	197434706	TTATTGATTATTATCACCTTCTCTCATTAGGTATTGCAAATGCTGTTTTTAATGGACAAAG
-1	434376	NM_013227.3(ACAN):c.7203G>A (p.Trp2401Ter)	ACAN	Sep 28, 2017	Human Phenotype Ontology:HP:0010886,MedGen:C0029421,OMIM:165800,Orphanet:ORPHA2764,SNOMED CT:82562007	Osteochondritis dissecans	germline	15	88872895	CCACTCCCACCCACAGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCC
5122	17621	NM_000483.4(APOC2):c.178G>A (p.Glu60Lys)	APOC2	Jan 01, 1993	na	APOLIPOPROTEIN C-II (SAN FRANCISCO)	germline	19	44948823	TCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGA
370421531	203537	NM_000156.5(GAMT):c.522G>A (p.Trp174Ter)	GAMT	Aug 14, 2017	MedGen:CN227588,Orphanet:ORPHA79172;MedGen:C0574080,OMIM:612736,Orphanet:ORPHA382,SNOMED CT:124239003;MedGen:CN517202	Cerebral creatine deficiency syndrome;Deficiency of guanidinoacetate methyltransferase;not provided	germline	19	1398964	CGTCCTCACCTACTGCAACCTCACCTCCTGGGGGGAGCTGATGAAGTCCAAGTACTCAGAC
111033386	57716	NM_206933.2(USH2A):c.6224G>A (p.Trp2075Ter)	USH2A	Nov 30, 2011	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216046532	AATCCCTTCCCAGTTCTTTGCTGCTCTCCTGGAACCCACCCAAAAAGGCAAATGGTATTAT
753392652	373755	NM_000257.3(MYH7):c.5655G>A (p.Ala1885=)	MYH7	Apr 21, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Hypertrophic cardiomyopathy;not provided	germline	14	23414007	CAAGGCCTACAAGCGCCAGGCCGAGGAGGCGGTGAGTGACCCTGCTGGGGACTAGGCCCAG
587779484	106924	NM_000090.3(COL3A1):c.2203G>A (p.Gly735Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999551	CAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGT
104894489	29384	NM_002435.2(MPI):c.656G>A (p.Arg219Gln)	MPI	Jul 14, 2016	MedGen:C0282577,Orphanet:ORPHA137,SNOMED CT:238049009;MedGen:C1865145,OMIM:602579,Orphanet:ORPHA79319	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1B	germline;unknown	15	74893306	TGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATCTCCCAGCAAGGTGGACACAGTTATAT
137854538	30985	NM_001077488.3(GNAS):c.695G>A (p.Arg232His)	GNAS	Jan 01, 2001	Human Phenotype Ontology:HP:0000852,MedGen:C0033806,OMIM:103580,Orphanet:ORPHA97593	Pseudohypoparathyroidism type 1A	germline	20	58909553	TGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAG
72653753	427070	NM_001171.5(ABCC6):c.386G>A (p.Gly129Glu)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16219642	TGTTCCTGATTCACACCGAGAGGAAAAAGGGAGTCCAGTCATCTGGAGTGCTGTTTGGTTA
796051852	16066	NM_020223.3(FAM20C):c.1136G>A (p.Gly379Glu)	FAM20C	Nov 01, 2007	MedGen:C1850106,OMIM:259775,Orphanet:ORPHA1832	Raine syndrome	germline	7	255912	ACTACTGCTCCACGGAGCACGCCCTGTGCGGGAAGCCAGACCAGATCGAGGGCTCGCTGGC
104893844	31071	NM_000406.2(GNRHR):c.268G>A (p.Glu90Lys)	GNRHR	May 01, 2002	Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004	Hypogonadotropic hypogonadism 7 with or without anosmia	germline	4	67754068	TTAAAACATCTGACCTTAGCCAACCTGTTGGAGACTCTGATTGTCATGCCACTGGATGGGA
-1	482242	NM_000425.4(L1CAM):c.1379G>A (p.Trp460Ter)	L1CAM	Dec 12, 2016	MedGen:CN517202	not provided	germline	X	153868841	CCTTCGGAGCGCCTGTGCCCAGTGTTCAGTGGTGAGTGTCTCGTCCTGGTAGTGGTGAGTG
879255226	434353	NM_000527.4(LDLR):c.2547+5G>A	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11129675	ACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCCATGG
863225186	214338	NM_025114.3(CEP290):c.1623+1G>A	CEP290	Feb 23, 2015	MedGen:C1857780,OMIM:610188	Joubert syndrome 5	unknown	12	88118642	AGAGCTGAAAACCAGATTCTTTTGAAAGAGGCAAGTGTGGTAGTCAGTTGATTATTTTCTT
119103232	16938	NM_000060.4(BTD):c.100G>A (p.Gly34Ser)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	germline	3	15635479	GCCAGAAGTAAGCTTGCTCTTTTCCTCTGCGGCTGTTACGTGGTTGCCCTGGGAGCCCACA
-1	488126	NM_001845.5(COL4A1):c.2842G>A (p.Gly948Ser)	COL4A1	Feb 14, 2018	Human Phenotype Ontology:HP:0000609,MedGen:C0338502,Orphanet:ORPHA137902	Optic nerve hypoplasia	de novo	13	110176912	ATGGATAAGGTGGACATGGGCAGCATGAAGGGCCAGAAAGGAGACCAAGGAGAGAAAGGCA
371418985	232124	NM_007194.3(CHEK2):c.1232G>A (p.Trp411Ter)	CHEK2	Apr 18, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	22	28695737	CTGCTGGGTATAACCGTGCTGTGGACTGCTGGAGTTTAGGAGTTATTCTTTTTATCTGGTA
62638625	20880	NM_000843.3(GRM6):c.2341G>A (p.Glu781Lys)	GRM6	Mar 29, 2005	MedGen:C1850362,OMIM:257270;MedGen:CN517202	Congenital stationary night blindness, type 1B;not provided	germline	5	178983005	AAGGCCCGTGGCGTGCCCGAGACCTTCAACGAGGCCAAGCCCATCGGCTTCACCATGTACA
74315287	19424	NM_057176.2(BSND):c.28G>A (p.Gly10Ser)	BSND	Nov 01, 2001	MedGen:C1865270,OMIM:602522	Bartter syndrome type 4	germline	1	54999214	GCCATGGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCCTGCTGG
587777721	165903	NM_014191.3(SCN8A):c.4850G>A (p.Arg1617Gln)	SCN8A	May 05, 2017	MedGen:C3281191,OMIM:614558;MedGen:CN517202	Early infantile epileptic encephalopathy 13;not provided	de novo;germline	12	51806336	AGAAATACTTTGTTTCCCCAACCCTATTCCGAGTCATCCGATTGGCCCGTATTGGGCGCAT
267606969	18261	NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu)	POMT2	May 26, 2009	MedGen:C3150411,OMIM:613150;MedGen:C3150416,OMIM:613156	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	germline	14	77277452	GCTTCTACCTCTTCCACCCTCTGGCTTACGGGATGGTTGGTCCCCTGGCCCAGGACCCCCA
104894794	26530	NM_006579.2(EBP):c.587G>A (p.Trp196Ter)	EBP	Oct 02, 2000	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48528351	GGTTTTACTTTGTCTTCATGAATGCCCTGTGGCTGGTGCTGCCTGGAGTCCTTGTGCTTGA
1057521074	380000	NM_000132.3(F8):c.6103G>A (p.Val2035Met)	F8	Jan 11, 2017	MedGen:CN517202	not provided	germline	X	154902063	CTACATGCTGGGATGAGCACACTTTTTCTGGTGTACAGCAATAGTGAGTAGCAATGTGGGC
587779605	107173	NM_000090.3(COL3A1):c.764G>A (p.Gly255Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188990326	ATTATTTTTAGGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGTATGAAAGGACA
369083786	359186	NM_024854.4(PYROXD1):c.285+1G>A	PYROXD1	Dec 19, 2016	MedGen:C4310645,OMIM:617258	Myopathy, myofibrillar, 8	germline	12	21445467	GGCGTAAAGCAACTGAAGAGTGAAGAACACGTAAGATAATTGTTTTCTTAATAACATTTTC
121918086	28486	NM_000371.3(TTR):c.241G>A (p.Glu81Lys)	TTR	Aug 16, 1993	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31595160	GAGTCTGGAGAGCTGCATGGGCTCACAACTGAGGAGGAATTTGTAGAAGGGATATACAAAG
775997446	413200	NM_139284.2(LGI4):c.863G>A (p.Trp288Ter)	LGI4	May 02, 2017	MedGen:CN243956,OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	germline	19	35126706	CGAGCCTCTTCGTGCTGGCTGCCCGCCTGTGGGGGGGCTCACAGCTGTGGGCCCGGCCCAG
267607222	20726	NM_002334.3(LRP4):c.409G>A (p.Asp137Asn)	LRP4	May 14, 2010	MedGen:C1859309,OMIM:212780,Orphanet:ORPHA3258	Syndactyly Cenani Lenz type	germline	11	46899884	TGGCACTGCGATGGTGACAATGACTGTGGCGACAACAGCGATGAGCAGTGTGGTGGGTGAC
150232843	181186	NM_031433.3(MFRP):c.201G>A (p.Trp67Ter)	MFRP	Feb 27, 2015	MedGen:C1970236,OMIM:611040,Orphanet:ORPHA251279	Microphthalmia, isolated 5	germline	11	119346116	AGGGCTACGGCCAGACTGCCGCTTCTCCTGGCTCTGTGTCCTCCTGCTCTCCAGCCTGCTC
1064796660	408660	NM_001844.4(COL2A1):c.2491G>A (p.Gly831Arg)	COL2A1	Feb 23, 2017	MedGen:CN517202	not provided	germline	12	47980941	CAGGGTGAACGTGGAGAGACTGGGCCCCCCGGACCAGCGGGATTTGCTGGGCCTCCTGTGA
61755793	28206	NM_000322.4(PRPH2):c.515G>A (p.Arg172Gln)	PRPH2	Apr 01, 2009	MedGen:C2751290,OMIM:613105;MedGen:CN517202	Choroidal dystrophy, central areolar 2;not provided	germline	6	42721820	AGTTCAAATGCTGCGGCAACAACGGTTTTCGGGACTGGTTTGAGATTCAGTGGATCAGCAA
387907183	40323	NM_001004127.2(ALG11):c.1192G>A (p.Glu398Lys)	ALG11	Mar 01, 2012	MedGen:C3150913,OMIM:613661,Orphanet:ORPHA280071	Congenital disorder of glycosylation type 1P	germline	13	52024922	GCAACAATTGGTCTGCATACCATGTGGAACGAGCATTTTGGGATTGGTGAGTTTGGCCTTT
80359865	34088	NM_001017420.2(ESCO2):c.1354-18G>A	ESCO2	Oct 02, 2008	MedGen:C0392475,OMIM:268300,OMIM:269000,SNOMED CT:48718006	Roberts-SC phocomelia syndrome	not provided	8	27792650	ATTGTACTTTTTAAAACATTCACCTGTCTTGGTTTTTAAAATCATTAGGTAGAAGATGTCC
767000881	441049	NM_000083.2(CLCN1):c.1063G>A (p.Gly355Arg)	CLCN1	Jul 31, 2017	MedGen:C0751360,OMIM:255700,SNOMED CT:20305008;MedGen:CN517202	Congenital myotonia, autosomal recessive form;not provided	germline	7	143331315	CTGAAGGAACTACCAGCTTTTGCTGCCATCGGGTCAGTGGGGTTACCTGCTCTGTGTGTGG
587779561	107013	NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg)	COL3A1	Feb 24, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007563	ACAGGTGAACGTGGAGCTGCTGGCATCAAAGGACATCGAGGATTCCCTGGTAATCCAGGTG
398123050	76345	NM_016434.3(RTEL1):c.2141+5G>A	RTEL1	Aug 15, 2013	MedGen:C3554656,OMIM:615190	Dyskeratosis congenita, autosomal recessive, 5	germline	20	63689870	GGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGG
138947766	362713	NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116883	GTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAG
118203979	16400	NM_148960.2(CLDN19):c.59G>A (p.Gly20Asp)	CLDN19	Nov 01, 2006	MedGen:C1855466,OMIM:248190,Orphanet:ORPHA2196	Hypomagnesemia 5, renal, with ocular involvement	germline	1	42740005	GCTACTTCTTGGCCCTGGGTGGCTGGGTGGGCATCATTGCTAGCACAGCCCTGCCACAGTG
121913562	29368	NM_005912.2(MC4R):c.812G>A (p.Cys271Tyr)	MC4R	Dec 10, 2015	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline;maternal;unknown	18	60371538	TCTTCCTCCACTTAATATTCTACATCTCTTGTCCTCAGAATCCATATTGTGTGTGCTTCAT
1057519345	362113	NM_024876.3(COQ8B):c.101G>A (p.Trp34Ter)	COQ8B	Jun 07, 2016	MedGen:C3809965,OMIM:615573	Nephrotic syndrome, type 9	germline	19	40714532	GTGGGGCCCTGGGGCCTGGGCCCCACCGCTGGGTAAGAGGCTAGGGAGCAGGTCCCCAAGG
-1	426441	NM_003159.2(CDKL5):c.65-1G>A	CDKL5	May 31, 2017	MedGen:CN517202	not provided	germline	X	18510819	GCCCTTGATTGTTTACTTCTTTTTATTATAGGAGCCTATGGAGTTGTACTTAAATGCAGAC
397514424	36427	NM_000060.4(BTD):c.1463G>A (p.Gly488Asp)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645319	CCACGGGGATATTTGAGTTTCACCTGTGGGGCAACTTCAGTACTTCCTATATCTTTCCTTT
376974221	271173	NM_000272.3(NPHP1):c.329+1G>A	NPHP1	Mar 16, 2016	MedGen:CN517202	not provided	germline	2	110178422	TGTGACAATAAGCAGAGAAAATATAACTGAGTATGCTTCCTTTCTACCTTTCTTTTTTCTT
372487178	227735	NM_012200.3(B3GAT3):c.667G>A (p.Gly223Ser)	B3GAT3	May 13, 2016	na	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS	germline	11	62616748	GTCTCAGTGTGGCCTGTGGGGCTGGTGGGCGGCCTGCGATTCGAGGGCCCTCAGGTACAGG
121912679	33349	NM_001105.4(ACVR1):c.1067G>A (p.Gly356Asp)	ACVR1	Mar 01, 2009	MedGen:C0016037,OMIM:135100,Orphanet:ORPHA337,SNOMED CT:82725007	Progressive myositis ossificans	germline	2	157761077	TTGATTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGAGCACCAA
137852461	25354	NM_000132.3(F8):c.6506G>A (p.Arg2169His)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154863151	TTAACCCTCCAATTATTGCTCGATACATCCGTTTGCACCCAACTCATTATAGCATTCGCAG
62642565	105339	NM_000350.2(ABCA4):c.6329G>A (p.Trp2110Ter)	ABCA4	Jan 01, 2015	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	unknown	1	94001059	GGATGGACCCCCAGGCACGCCGCATGCTGTGGAACGTCATCGTGAGCATCATCAGAGAAGG
796052351	202883	NM_017882.2(CLN6):c.297+1G>A	CLN6	Jun 19, 2012	MedGen:CN517202	not provided	germline	15	68214289	AACGTCATCACGCCCTTTCTCTTGCTCAAGGTACTGTCCCAGGGCCCCCACTCTCTCCTGT
398122825	48259	NM_000834.4(GRIN2B):c.1677G>A (p.Trp559Ter)	GRIN2B	Dec 21, 2012	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	germline	12	13611828	TTCCTCAGAGCCATTCAGCGCTGACGTATGGGTGATGATGTTTGTGATGCTGCTCATCGTC
587779588	107136	NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp)	COL3A1	Jun 23, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188992194	ATGTAAACTTCTCTTTTTAGGGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCA
121918544	20664	NM_001099274.1(TINF2):c.845G>A (p.Arg282His)	TINF2	Jul 07, 2015	MedGen:C3151445,OMIM:613990;MedGen:C1327916,OMIM:268130,Orphanet:ORPHA3088	Dyskeratosis congenita, autosomal dominant, 3;Revesz syndrome	de novo;germline	14	24240635	GGGCCTCCACTAGGGGAGGCCATAAGGAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGAA
-1	439506	NM_016653.2(MAP3K20):c.515G>A (p.Trp172Ter)	MAP3K20	Nov 07, 2017	MedGen:CN596208,OMIM:617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	germline	2	173191110	CACACATGTCCTTGGTTGGAACTTTCCCATGGATGGCTCCAGAAGTTATCCAGAGTCTCCC
74315463	18105	NM_000487.5(ARSA):c.467G>A (p.Gly156Asp)	ARSA	Jan 01, 1994	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	germline	22	50627051	CCAGCCCTCACGGCAGCTGCCCGCCTCAGGGCCCCTGCCAGAACCTGACCTGCTTCCCGCC
71640277	31009	NM_000515.4(GH1):c.291+1G>A	GH1	Aug 01, 1999	MedGen:C0271567,OMIM:173100,Orphanet:ORPHA231679,SNOMED CT:237687003	Autosomal dominant isolated somatotropin deficiency	germline	17	63918016	TCCAACAGGGAGGAAACACAACAGAAATCCGTGAGTGGATGCCTTCTCCCCAGGCGGGGAT
104886088	35693	NM_000495.4(COL4A5):c.973G>A (p.Gly325Arg)	COL4A5	Aug 01, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108582920	CCTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGTAAGAATTTTAA
370950728	186993	NM_000152.4(GAA):c.655G>A (p.Gly219Arg)	GAA	May 07, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002;MedGen:CN517202	Glycogen storage disease, type II;not provided	germline;unknown	17	80105857	TACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCC
72653787	426950	NM_001171.5(ABCC6):c.2263G>A (p.Gly755Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178950	CTTTTGTGGCCACAGGGCATGAATCTCTCCGGAGGCCAGAAGCAGCGGCTGAGCCTGGCCC
587783593	169934	NM_178151.2(DCX):c.95G>A (p.Ser32Asn)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410304	GGATGAATGGGTTGCCTAGCCCCACTCACAGCGCCCACTGTAGCTTCTACCGAACCAGAAC
397515547	76582	NM_004456.4(EZH2):c.2044G>A (p.Ala682Thr)	EZH2	Jul 18, 2013	MedGen:C0265210,OMIM:277590,SNOMED CT:63119004	Weaver syndrome	not provided	7	148809376	ACTTTTTTCTTTTTAGATTTTGTGGTGGATGCAACCCGCAAGGGTAACAAAATTCGTTTTG
121912450	29812	NM_000454.4(SOD1):c.64G>A (p.Glu22Lys)	SOD1	Apr 01, 1994	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31659833	GACGGCCCAGTGCAGGGCATCATCAATTTCGAGCAGAAGGCAAGGGCTGGGACGGAGGCTT
1131692234	424400	NM_015512.4(DNAH1):c.11788-1G>A	DNAH1	Jul 20, 2017	MedGen:CN337166,OMIM:617576	SPERMATOGENIC FAILURE 18	germline	3	52397706	GGGGCTTCCATGTTGGCCTCCTCTCTCCTAGGGCTACCTCTCCTACATCAAGAGCCTCCCA
587777352	132657	NM_025132.3(WDR19):c.3565+1G>A	WDR19	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:C4225376,OMIM:616307	Jeune thoracic dystrophy;Senior-Loken syndrome 8	germline;unknown	4	39273062	TGGCCAACAACATCAGCAAATTTCCATCACGTAAGTACCACTGACCAGAGCTCTCACCCAT
281865362	104897	NM_000330.3(RS1):c.626G>A (p.Arg209His)	RS1	Aug 04, 2016	MedGen:CN517202	not provided	germline	X	18642053	TCCGCCTCATCCCGCTGGGCTGGCACGTCCGCATTGCCATCCGGATGGAGCTGCTGGAGTG
-1	434370	NM_013227.3(ACAN):c.2026+1G>A	ACAN	Sep 28, 2017	Human Phenotype Ontology:HP:0010886,MedGen:C0029421,OMIM:165800,Orphanet:ORPHA2764,SNOMED CT:82562007	Osteochondritis dissecans	germline	15	88849732	TGTCCCGGCACCATGCCTTCTGCTTCCGAGGTATGCAGCCTCACTTCGGCTCCAACAGCCC
876658556	233768	NM_000077.4(CDKN2A):c.44G>A (p.Trp15Ter)	CDKN2A	Dec 08, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	9	21974784	CGGGGAGCAGCATGGAGCCTTCGGCTGACTGGCTGGCCACGGCCGCGGCCCGGGGTCGGGT
121964852	27489	NM_152263.3(TPM3):c.503G>A (p.Arg168His)	TPM3	May 02, 2017	MedGen:CN178536;MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:C1836448,OMIM:609284;MedGen:C1836448,OMIM:609284;MedGen:CN517202	Cap myopathy 1;Congenital myopathy with fiber type disproportion;Congenital myopathy with fiber type disproportion;Nemaline myopathy 1;Nemaline myopathy 1;not provided	germline	1	154172971	TATACTGGGATCTTTTCCTGTAGGTGGCTCGTAAGTTGGTGATCATTGAAGGAGACTTGGA
118204070	16580	NM_000237.2(LPL):c.272G>A (p.Trp91Ter)	LPL	Jun 01, 1992	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19951791	ATCTTCAGGTAACAGGAATGTATGAGAGTTGGGTGCCAAAACTTGTGGCCGCCCTGTACAA
1064796403	406866	NM_006772.2(SYNGAP1):c.3471G>A (p.Trp1157Ter)	SYNGAP1	Feb 16, 2017	MedGen:CN517202	not provided	germline	6	33444506	AATGCCAGCCTCTGAGCGGACAGTGGCCTGGGTCTCCAACATGCCTCACCTGTCGGCTGAC
201544686	94578	NM_133645.2(MTO1):c.1505G>A (p.Arg502His)	MTO1	Nov 08, 2017	MedGen:C3553529,OMIM:614702,Orphanet:ORPHA314637;MedGen:CN517202	Combined oxidative phosphorylation deficiency 10;not provided	germline;maternal	6	73482209	CCAGCCGAGTAGAGTTCCGTTTGTCACTGCGCCCTGATAATGCTGACAGCCGGCTCACACT
1060502629	404274	NM_004006.2(DMD):c.1653G>A (p.Trp551Ter)	DMD	Dec 31, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Duchenne muscular dystrophy;not provided	germline	X	32573796	AAACATCTGTAGATGGACAGAAGACCGCTGGGTTCTTTTACAAGACATCCTTCTCAAATGG
121917732	29242	NM_001085377.1(MCC):c.2087G>A (p.Arg696Gln)	MCC	Mar 15, 1991	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	5	113064110	CTCAGATGCTCAAGCGAGCTCATGACTGCCGGAAGACAGCTGAGAACGCTGCCAAGGCCCT
771203198	226189	NM_000059.3(BRCA2):c.9318G>A (p.Trp3106Ter)	BRCA2	Aug 03, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Neoplasm of the breast	germline	13	32394750	ATGTTACAATTTACTGGCAATAAAGTTTTGGATAGACCTTAATGAGGACATTATTAAGCCT
72664213	426831	NM_001171.5(ABCC6):c.3883-5G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16155036	GGTCAGAGCAGGCCTTTCCTCCCAACCCCGGGCAGGTGGGCATCGTTGGCAGGACCGGGGC
786205232	188155	NM_004974.3(KCNA2):c.890G>A (p.Arg297Gln)	KCNA2	Jul 26, 2017	MedGen:C4225350,OMIM:616366;MedGen:CN517202	Epileptic encephalopathy, early infantile, 32;not provided	germline	1	110603893	CCATGTCACTGGCCATCCTCCGTGTCATCCGGTTGGTAAGAGTCTTTAGGATTTTCAAGTT
367543284	70572	NM_001017995.2(SH3PXD2B):c.401+1G>A	SH3PXD2B	Jun 01, 2014	MedGen:C1859406,OMIM:211170;MedGen:C1855305,OMIM:249420,Orphanet:ORPHA137834	Borrone Di Rocco Crovato syndrome;Frank Ter Haar syndrome	germline	5	172382035	AAGACCTGAGGACCTGAATCCCCCCAAAGAGTAAGTTTGTTTGTGGGCTTCCCCAGATGGA
767586362	200449	NM_000030.2(AGXT):c.175G>A (p.Glu59Lys)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869179	CCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCC
121913632	52060	NM_000257.3(MYH7):c.2221G>A (p.Gly741Arg)	MYH7	Apr 20, 2017	MedGen:CN230736;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23425760	CCTGAGGGACAGTTCATTGATAGCAGGAAGGGGGCAGAGAAGCTGCTCAGCTCCCTGGACA
121434544	32653	NM_000070.2(CAPN3):c.1715G>A (p.Arg572Gln)	CAPN3	May 24, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42402972	AGCCCCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCTCTCTGA
-1	446879	NM_001142966.2(GREB1L):c.983G>A (p.Arg328Gln)	GREB1L	Dec 18, 2017	MedGen:CN703737,OMIM:617805	RENAL HYPODYSPLASIA/APLASIA 3	germline	18	21440302	CCATGTTCATTTCTGGGCCACCAAAGAAACGACACCGGGGATGGTATCCTGGGTCACCTCT
-1	481329	NM_020745.3(AARS2):c.2356G>A (p.Ala786Thr)	AARS2	Sep 08, 2017	MedGen:C3279793,OMIM:614096,Orphanet:ORPHA319504	Combined oxidative phosphorylation deficiency 8	paternal	6	44302810	ACCCGCCTGCTGGCCGTCACTGGGGAGCAGGCCCAGCAGGTCAGCATGCCAGTAGGCCTGG
483352778	106572	NM_000255.3(MUT):c.323G>A (p.Arg108His)	MUT	Dec 21, 2016	MedGen:C1855115;MedGen:CN517202	METHYLMALONIC ACIDURIA, mut(0) TYPE;not provided	germline	6	49459144	CCATGTATACCTTTAGGCCCTGGACCATCCGCCAGTATGCTGGTTTTAGTACTGTGGAAGA
80359004	46672	NM_000059.3(BRCA2):c.7758G>A (p.Trp2586Ter)	BRCA2	Sep 19, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32357882	AAAAGGAATACAGTTGGCTGATGGTGGATGGCTCATACCCTCCAATGATGGAAAGGCTGGA
1085307462	415798	NM_004187.3(KDM5C):c.1557G>A (p.Trp519Ter)	KDM5C	May 02, 2017	MedGen:CN517202	not provided	germline	X	53210702	AGCCTTTTGCTGGCATATTGAGGATCACTGGAGTTACTCCATTAACTACCTCCACTGGTGA
374536346	359230	NM_206933.2(USH2A):c.486-14G>A	USH2A	Jul 01, 2015	MedGen:CN517202	not provided	germline	1	216418693	GGTTGGATGCTGACCTTTTCTCTCTTTTCCGGTTGCTTCCTAAGGTGTGTTATAGAAAAGA
-1	446679	NM_000377.2(WAS):c.778-6G>A	WAS	Aug 02, 2017	MedGen:CN517202	not provided	germline	X	48688294	TCTACTCCTGCCCCTGGCCTTTTTCCTCCTGGGCAGGTGAACAACCTCGACCCAGATCTGC
1057516093	354015	NM_172107.3(KCNQ2):c.757G>A (p.Ala253Thr)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63442465	CTCATCCTGGCCTCGTTCCTGGTGTACTTGGCAGAGAAGGGGGAGAACGACCACTTTGACA
863223854	209633	NM_003242.5(TGFBR2):c.1564G>A (p.Asp522Asn)	TGFBR2	Mar 30, 2014	MedGen:CN517202	not provided	germline	3	30691459	ATGGTGTGTGAGACGTTGACTGAGTGCTGGGACCACGACCCAGAGGCCCGTCTCACAGCCC
727503794	177466	NM_000018.3(ACADVL):c.1532+1G>A	ACADVL	Apr 14, 2014	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005	Very long chain acyl-CoA dehydrogenase deficiency	germline	17	7224244	GCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCA
201799893	132588	NM_000343.3(SLC5A1):c.1673G>A (p.Arg558His)	SLC5A1	Jan 01, 2011	MedGen:C0268186,OMIM:606824,Orphanet:ORPHA35710,SNOMED CT:27943000	Congenital glucose-galactose malabsorption	germline	22	32104793	GACCTGTTCTGCCTTCTCTGCAGCTCTACCGTCTGTGTTGGAGCCTGCGCAACAGCAAAGA
137852353	25394	NM_001161529.1(CSF2RA):c.586G>A (p.Gly196Arg)	CSF2RA	Nov 24, 2008	MedGen:C2677877,OMIM:300770	Surfactant metabolism dysfunction, pulmonary, 4	germline	X	1290449	TTAACGTCTCGCAATTACTTTCTGGTTAACGGAACCAGCCGAGAAATTGGCATCCAATTCT
132630284	260274	NM_000533.4(PLP1):c.607G>A (p.Asp203Asn)	PLP1	May 13, 2016	MedGen:CN517202	not provided	germline	X	103787951	ACCTCTGCCAGTATAGGCAGTCTCTGTGCTGATGCCAGAATGTATGGTGAGTTAGGGTACG
746219370	216056	NM_052845.3(MMAB):c.572G>A (p.Arg191Gln)	MMAB	Jan 07, 2016	MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311	Methylmalonic aciduria cblB type	germline	12	109561052	CGCTGCATTTCTGCCGGGCCGTGTGCCGCCGGGCCGAGAGACGGTAAGAGGGCTGGAGAGA
879254965	246247	NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11116140	GACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGC
387906287	17905	NM_001171507.2(MCFD2):c.309+1G>A	MCFD2	Jun 01, 2003	MedGen:C3150889,OMIM:613625	Factor v and factor viii, combined deficiency of, 2	germline	2	46907809	TCCACAGCCATCACTCATGTCCATAAGGAGGTAGGTCTGGCAGTGGCTTGGGGGACTGTAT
-1	32268	NM_000090.3(COL3A1):c.889G>A (p.Gly297Arg)	COL3A1	Mar 01, 2003	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991523	AATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATA
431905511	102896	NM_000345.3(SNCA):c.152G>A (p.Gly51Asp)	SNCA	Apr 01, 2013	MedGen:C1868595,OMIM:168601	Parkinson disease 1	germline	4	89828154	GCTCCAAAACCAAGGAGGGAGTGGTGCATGGTGTGGCAACAGGTAAGCTCCATTGTGCTTA
587779673	107177	NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp)	COL3A1	May 02, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188992888	GCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATT
398122947	79348	NM_000394.3(CRYAA):c.292G>A (p.Gly98Arg)	CRYAA	Jul 12, 2006	MedGen:C1858679,OMIM:604219	Cataract, autosomal dominant	germline	21	43170619	AAGGTGCAGGACGACTTTGTGGAGATCCACGGAAAGCACAACGAGCGCCAGGTGAGCCCAG
151344474	79268	NM_000397.3(CYBB):c.1223G>A (p.Gly408Glu)	CYBB	Feb 26, 2016	MedGen:CN517202	not provided	germline	X	37805077	TGTTCAGCTATGAGGTGGTGATGTTAGTGGGAGCAGGGATTGGGGTCACACCCTTCGCATC
387906728	38948	NM_003336.3(UBE2A):c.32G>A (p.Arg11Gln)	UBE2A	Jun 01, 2010	MedGen:C3275464,OMIM:300860,Orphanet:ORPHA163956	Syndromic mental retardation, Nascimento type, X-linked	germline	X	119574743	TGTCCACCCCGGCTCGGCGGCGCCTCATGCGGGACTTCAAGAGGTAAACCGAGGGGACGGC
201539845	38879	NM_000260.3(MYO7A):c.652G>A (p.Asp218Asn)	MYO7A	Nov 09, 2015	MedGen:C1832475,OMIM:601317;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Deafness, autosomal dominant 11;Usher syndrome, type 1	germline	11	77156921	GACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCG
267608677	40101	NM_007055.3(POLR3A):c.1909+18G>A	POLR3A	Jan 08, 2016	MedGen:C1843200,OMIM:607694;MedGen:CN517202	Hypomyelinating leukodystrophy 7;not provided	germline	10	78009519	GCCAATGATTCCTGTGAGTGGACGGAACTCGGGTGGGGAGAAGGAGGAACGTGACAGAAAA
121913678	28906	NM_005249.4(FOXG1):c.765G>A (p.Trp255Ter)	FOXG1	Mar 04, 2009	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	germline;unknown	14	28768044	CTACGACGACCCGGGCAAGGGCAACTACTGGATGCTGGACCCGTCGAGCGACGACGTGTTC
267607164	22005	NM_006086.3(TUBB3):c.1249G>A (p.Asp417Asn)	TUBB3	Jan 14, 2016	MedGen:C2748801,OMIM:600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	germline	16	89935700	GAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGG
398122392	76976	NM_020989.3(CRYGC):c.470G>A (p.Trp157Ter)	CRYGC	Jan 01, 2009	MedGen:C1852438,OMIM:604307	Cataract, coppock-like	germline	2	208128258	GGCCCCAAGAGTACAGGCGGTGCCAGGACTGGGGGGCCATGGATGCTAAGGCAGGCTCTTT
28936687	23292	NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp)	ACVRL1	Dec 01, 2003	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51914445	CTCACCTTCCCCTCTGGCCATCAGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTG
121908532	21046	NM_014251.2(SLC25A13):c.1763G>A (p.Arg588Gln)	SLC25A13	Mar 27, 2008	MedGen:C1863844,OMIM:603471,Orphanet:ORPHA247585	Citrullinemia type II	germline	7	96121733	TTCTCCATTTTTTTAAAGCTCGTGTATTTCGATCCTCACCCCAGTTTGGTGTAACTTTGCT
121918214	16094	NM_001080432.2(FTO):c.947G>A (p.Arg316Gln)	FTO	Jul 01, 2009	MedGen:C2752001,OMIM:612938	Growth retardation, developmental delay, coarse facies, and early death	germline	16	53873837	AACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAGGT
797044995	204991	NM_032856.3(WDR73):c.287G>A (p.Arg96Lys)	WDR73	Jun 29, 2015	MedGen:C0795949,OMIM:251300	Galloway-Mowat syndrome	germline	15	84648537	TCTTTGATCTAAAGCATGTGCCACATACCAGGTATGGTCAATTTTGTGATCCAGCCATCCA
80338890	34223	NM_003227.3(TFR2):c.2137-1G>A	TFR2	Jun 09, 2011	MedGen:C1858664,OMIM:604250,Orphanet:ORPHA225123	Hemochromatosis type 3	not provided	7	100621127	CAACCCTGACCTGATCCCCCTCTCTGCGCAGGTGGAGTTCTACTTCCTTTCCCAGTACGTG
527236064	152829	NM_001142800.1(EYS):c.7793G>A (p.Gly2598Asp)	EYS	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	6	63778111	GCCATTTCAGAGGACTGGGAAATCCTGAGGGCCACCCAAATGCTGGACGCAGTGTTGGCCA
121918318	21766	NM_003165.3(STXBP1):c.539G>A (p.Cys180Tyr)	STXBP1	Jun 01, 2008	MedGen:C2677326,OMIM:612164	Early infantile epileptic encephalopathy 4	germline	9	127663314	AGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCG
267606861	29951	NM_002112.3(HDC):c.951G>A (p.Trp317Ter)	HDC	Jan 08, 2014	Gene:2973,MedGen:C0040517,OMIM:137580	Tourette Syndrome	germline	15	50252520	AGCCACTAATGCCCATTTGGAAACCCACAGGGTCAAGGACAAGTACAAGCTGCAGCAGACC
1131691205	421109	NM_177438.2(DICER1):c.4140G>A (p.Trp1380Ter)	DICER1	Dec 22, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	14	95099846	GGTGTCAATATTTGATCCCCCTGTGAATTGGCTTCCTCCTGGTTATGTAGTAAATCAAGAC
120074153	17863	NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp)	VPS13B	Jul 01, 2004	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005	Cohen syndrome	germline	8	99784394	GTAATGACACACAGGAGACACTGCGGTTTGGCCAGGTGGATACTGATGAAAATATTCTGCT
199472926	197259	NM_000238.3(KCNH2):c.1704G>A (p.Trp568Ter)	KCNH2	Nov 13, 2015	MedGen:CN517202	not provided	germline	7	150951689	GCTCATCGCGCACTGGCTAGCCTGCATCTGGTACGCCATCGGCAACATGGAGCAGCCACAC
45468292	58731	NM_000548.4(TSC2):c.2546-1G>A	TSC2	Jul 06, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2075798	GCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGA
72658185	407278	NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser)	COL1A2	May 23, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:CN517202	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not provided	germline	7	94421027	GTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCC
1135401810	424659	NM_015335.4(MED13L):c.5588+1G>A	MED13L	Jan 06, 2017	MedGen:C4225208,OMIM:616789,Orphanet:ORPHA369891	Mental retardation and distinctive facial features with or without cardiac defects	de novo	12	115975514	CTGCGTTGTAAATATTGCTTTACCAAACAGGTGAGAAGACTTGATGTTTATGGTGCATGTA
957828732	427078	NM_001171.5(ABCC6):c.268G>A (p.Ala90Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16219899	ATAGTCCTGTGTACCTCCAGCGTGGCTGTCGCTCTTTGGAAAATCCAACAGGGAACGCCTG
1085307195	414126	NM_001204.6(BMPR2):c.248G>A (p.Gly83Glu)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467519	CTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGA
1057518736	359051	NM_001204527.1(SSR4):c.442-1G>A	SSR4	Nov 28, 2016	MedGen:C4012395,OMIM:300934,Orphanet:ORPHA370927	Congenital disorder of glycosylation type 1y	germline	X	153798328	CTGAGCTGGCTTGTGATCTCCTTTTTTTCAGGGCACTTGGAACGGGCCCTGGGTGTCCACT
398123102	98228	NM_000033.3(ABCD1):c.1553G>A (p.Arg518Gln)	ABCD1	Oct 08, 2012	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153740156	CCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGG
-1	416973	NM_000314.6(PTEN):c.253+5G>A	PTEN	May 26, 2017	MedGen:CN072330,OMIM:158350	Cowden syndrome 1	germline	10	87931094	TGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTATAACT
886037620	27361	NC_000008.11:g.11474238G>A	BLK	Aug 25, 2009	MedGen:C3150618,OMIM:613375	Maturity-onset diabetes of the young, type 11	germline	8	11474238	TCTTGGTTTGCGCACCACCTGGAAAGGGGTGTGGCTTTCACTCATTCTGGTACCAGGCACA
1060503154	398968	NM_000192.3(TBX5):c.443G>A (p.Trp148Ter)	TBX5	May 22, 2016	MedGen:C3542024,OMIM:614823	Aortic valve disease 2	germline	12	114398640	ACCCAGACTCCCCCGCCACCGGGGCGCATTGGATGAGGCAGCTCGTCTCCTTCCAGAAACT
397514616	179078	NM_003280.2(TNNC1):c.91G>A (p.Ala31Thr)	TNNC1	Apr 15, 2014	MedGen:CN517202	not provided	germline	3	52452217	AAGGCAGCCTTCGACATCTTCGTGCTGGGCGCTGAGGATGGCTGCATCAGCACCAAGGAGC
794726675	28890	NM_000222.2(KIT):c.1879+1G>A	KIT	Nov 01, 1992	Human Phenotype Ontology:HP:0007443,MedGen:C0080024,OMIM:172800,Orphanet:ORPHA2884,SNOMED CT:6479008	Partial albinism	germline	4	54727928	CCATGACTGTCGCTGTAAAGATGCTCAAGCGTAAGTTCCTGTATGGTACTGCATGCGCTTG
104894678	31757	NM_001985.2(ETFB):c.382G>A (p.Asp128Asn)	ETFB	Jul 01, 2003	MedGen:C3278155	Glutaric acidemia IIB	germline	19	51350385	AGTCTTCTGTCTCTCCCCATTCAGGCCATCGATGATGACTGTAACCAGACAGGGCAGATGA
121908751	22220	NM_000492.3(CFTR):c.274G>A (p.Glu92Lys)	CFTR	Jun 13, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117530899	TTTAATTTCTCTGTTTTTCCCCTTTTGTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTAC
121908627	21067	NM_005476.5(GNE):c.2086G>A (p.Val696Met)	GNE	Jul 18, 2017	MedGen:C1833373,OMIM:600737;MedGen:C1853926,OMIM:605820;MedGen:C1853926,OMIM:605820;MedGen:C1853926,OMIM:605820;MedGen:C0342853,OMIM:269921,Orphanet:ORPHA3166,SNOMED CT:238051008;MedGen:C0342853,OMIM:269921,Orphanet:ORPHA3166,SNOMED CT:238051008;MedGen:CN517202	Inclusion body myopathy 2;Nonaka myopathy;Nonaka myopathy;Nonaka myopathy;Sialuria;Sialuria;not provided	germline;paternal	9	36217448	CAGGCCTTGTCCTCCGTGCAGGACGTGGATGTGGTGGTTTCGGATTTGGTTGACCCCGCCC
121907959	18941	NM_000520.5(HEXA):c.749G>A (p.Gly250Asp)	HEXA	Jan 01, 1992	MedGen:C1848913	Tay-sachs disease, juvenile	germline	15	72350574	AGGAGGTCATTGAATACGCACGGCTCCGGGGTATCCGTGTGCTTGCAGAGTTTGACACTCC
587777864	166365	NM_001126128.1(PROK2):c.101G>A (p.Cys34Tyr)	PROK2	Sep 01, 2008	MedGen:C1857720,OMIM:610628	Kallmann syndrome 4	germline	3	71781588	TTATCTGTTTGTTTATTACATTTCAGGCTTGTGACAAGGACTCCCAATGTGGTGGAGGCAT
397515353	19295	NM_000784.3(CYP27A1):c.845-1G>A	CYP27A1	Mar 08, 2016	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000;MedGen:CN517202	Cholestanol storage disease;not provided	germline	2	218812923	TGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAG
875989922	228170	NM_000527.4(LDLR):c.1469G>A (p.Trp490Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113645	CTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGT
587777605	153582	NM_012216.3(MID2):c.1040G>A (p.Arg347Gln)	MID2	Jan 01, 2014	MedGen:C3890168,OMIM:300928	Mental retardation, X-linked 101	germline	X	107905593	AGCATATCCTGAAAGAAAATGACCAGGCACGGTTTCTACAGTCTGCAAAAAATATTGCTGA
779692470	213951	NM_000888.4(ITGB6):c.898G>A (p.Glu300Lys)	ITGB6	-	MedGen:CN233177	Adolescent alopeciam dentogingival abnormalitites and intellectual disability	germline	2	160172592	GACGGGCTCTGTCACTTGGACAGCAAGAATGAATACTCCATGTCAACTGTCTTGGTGTGTA
748309520	213916	NM_003119.3(SPG7):c.988-1G>A	SPG7	Apr 04, 2017	MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013	Spastic paraplegia 7	germline	16	89531903	AGTTAGTGTTGCATTGTCTGCTGCCGTCCAGAGCCCAGAACGCTTCCTCCAGCTTGGCGCC
80358871	66726	NM_000059.3(BRCA2):c.631G>A (p.Val211Ile)	BRCA2	Feb 27, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	13	32326613	CCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAA
113994207	19490	NM_004937.2(CTNS):c.589G>A (p.Gly197Arg)	CTNS	May 22, 2017	MedGen:C1857413,OMIM:219750;MedGen:C0010690,OMIM:219800;MedGen:CN517202	Cystinosis, ocular nonnephropathic;Nephropathic cystinosis;not provided	germline;unknown	17	3656703	CAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCT
587779723	107243	NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser)	COL3A1	Oct 24, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004347	CCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCA
-1	485808	NM_000061.2(BTK):c.371G>A (p.Trp124Ter)	BTK	Jan 24, 2017	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	Agammaglobulinemia, non-Bruton type;X-linked agammaglobulinemia	germline	X	101370018	TCTCCCCAACTGAAGAACTAAGGAAGCGGTGGATTCACCAGCTCAAAAACGGTGAGAATTA
137852399	25226	NM_000132.3(F8):c.832G>A (p.Gly278Arg)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969508	CACAGGAAATCAGTCTATTGGCATGTGATTGGAATGGGCACCACTCCTGAAGTGCACTCAA
63750396	95985	NM_000251.2(MSH2):c.1035G>A (p.Trp345Ter)	MSH2	Oct 12, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline;unknown	2	47416388	CCCTCAAGGACAAAGACTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGATAAGAACAGA
104894828	25754	NM_000169.2(GLA):c.902G>A (p.Arg301Gln)	GLA	Nov 28, 2016	MedGen:CN230736;Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:C1970820	Cardiovascular phenotype;Fabry disease;Fabry disease, cardiac variant	germline	X	101398467	CTGCTCCTTTATTCATGTCTAATGACCTCCGACACATCAGCCCTCAAGCCAAAGCTCTCCT
199682486	101428	NM_013339.3(ALG6):c.257+5G>A	ALG6	Oct 09, 2017	MedGen:C2930997,OMIM:603147,Orphanet:ORPHA79320;MedGen:CN517202	Congenital disorder of glycosylation type 1C;not provided	germline;paternal;unknown	1	63402348	TATCATAGTCTCCTATGTGCATATGTGTAAGTTTTTCTTTCTTAATGTAACTCTAAATTTT
28941468	17768	NM_004183.3(BEST1):c.896G>A (p.Gly299Glu)	BEST1	Jul 01, 1998	MedGen:C0339510,OMIM:153700,Orphanet:ORPHA1243,SNOMED CT:90036004;MedGen:CN517202	Vitelliform macular dystrophy type 2;not provided	germline	11	61959526	AGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTG
122453120	26730	NM_004484.3(GPC3):c.1705G>A (p.Ala569Thr)	GPC3	Jan 09, 2012	MedGen:CN033288,OMIM:194070	Wilms tumor 1	somatic	X	133536162	CATTCCCCGCTGAAGCTTCTCACCAGCATGGCCATCTCGGTGGTGTGCTTCTTCTTCCTGG
879254076	244621	NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter)	ATM	Jan 16, 2017	MedGen:CN517202	not provided	germline	11	108304751	ATATTTTACTCCAAGATACAAATGAATCATGGAGAAATCTGCTTTCTACACATGTTCAGGG
398124145	100946	NM_004380.2(CREBBP):c.3982+1G>A	CREBBP	Aug 17, 2015	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004;MedGen:CN517202	Rubinstein-Taybi syndrome;not provided	germline	16	3744893	CTCGAAAAGAAAACAAATTCAGTGCTAAGAGTAAGTTTCGGGAAGCTTTCTGTTTCCTGGA
398123256	98541	NM_000203.4(IDUA):c.1650+5G>A	IDUA	Dec 06, 2012	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473	Hurler syndrome	germline	4	1003475	CGCGCCCCGAGAAGCCGCCCGGGCAGGCAAGTGGCAGTCCCCTAACCCGCGCCGCGGCCCG
267606863	25076	NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn)	HPRT1	Jun 01, 1990	MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	Lesch-Nyhan syndrome	germline	X	134498655	CCAGACAAGTTTGTTGTAGGATATGCCCTTGACTATAATGAATACTTCAGGGATTTGAATG
72664302	426870	NM_001171.5(ABCC6):c.3506+15G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16162978	GACTGGTGGCTGACAGGTAGGAAGAGCCAGGGCAGAGAAGACCTTGCAATTCATCCATATC
1057517711	360088	NM_000719.6(CACNA1C):c.1553G>A (p.Arg518His)	CACNA1C	Apr 19, 2017	MedGen:C3495498,OMIM:192600;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;not provided	germline	12	2566466	GGTGGAATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTCTACTG
879254517	245547	NM_000527.4(LDLR):c.415G>A (p.Asp139Asn)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105321	GACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTG
786205088	23769	NM_000182.4(HADHA):c.180+1G>A	HADHA	May 01, 1995	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008	Mitochondrial trifunctional protein deficiency	germline	2	26238933	GTTGTTCGAATTAACTCTCCCAATTCAAAGGTATCTCATTTAATTTGCAGTTTTTTTCTGC
397515349	18802	NM_000375.2(UROS):c.-26-183G>A	UROS	Apr 07, 2016	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125816708	TGATATCAACTGCTAACATGCTCTTTCTTGGCCTTATCAGTGACAGGGGTCTTCAGAAAGA
863224011	210707	NM_000143.3(FH):c.133-1G>A	FH	Jan 17, 2017	Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523	Multiple cutaneous leiomyomas	germline	1	241517317	ACTTGTAATAGTGTTGTATTCTTGTCTTTAGGCAAGCCAAAATTCCTTCCGGATAGAATAT
104886117	35756	NM_000495.4(COL4A5):c.1472G>A (p.Gly491Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108595557	GCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCT
61750072	106207	NM_000552.4(VWF):c.4121G>A (p.Arg1374His)	VWF	Sep 22, 2016	MedGen:CN517202	not provided	germline	12	6019297	CACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCACCCTGCTCCT
-1	485835	NM_000044.4(AR):c.1688G>A (p.Cys563Tyr)	AR	Oct 03, 2011	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67643327	ACTTTCCACCCCAGAAGACCTGCCTGATCTGTGGAGATGAAGCTTCTGGGTGTCACTATGG
1064794216	410545	NM_000435.2(NOTCH3):c.3182G>A (p.Cys1061Tyr)	NOTCH3	Feb 24, 2017	MedGen:CN517202	not provided	germline	19	15180217	TGGAGCAGCTGTGTCAGGCGGGTGGGCAGTGTGTGGATGAAGACAGCTCCCACTACTGCGT
797045342	209233	NM_000052.6(ATP7A):c.1950G>A (p.Trp650Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78011452	TTTCTTTTTTTATTTTTTCCATATAAGATGGAGACGGTCTTTTCTTGTGAGTCTGTTTTTC
119481078	19918	NM_000197.1(HSD17B3):c.166G>A (p.Ala56Thr)	HSD17B3	Aug 01, 1998	MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006	Testosterone 17-beta-dehydrogenase deficiency	germline	9	96298451	GCATTCTTGCTTTTCACAGTGATCACTGGAGCAGGCGATGGAATTGGGAAAGCGTACTCGT
147901432	343464	NM_000339.2(SLC12A3):c.1925G>A (p.Arg642His)	SLC12A3	Jun 14, 2016	MedGen:C0268450,OMIM:263800,Orphanet:ORPHA358,SNOMED CT:3188003	Familial hypokalemia-hypomagnesemia	germline	16	56885364	ATGAGGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACCTGGGA
724160021	172150	NM_004208.3(AIFM1):c.1265G>A (p.Arg422Gln)	AIFM1	Aug 01, 2015	Gene:751798,MedGen:C1845095,OMIM:300614,Orphanet:ORPHA139583	Deafness, X-linked 5	germline;unknown	X	130136085	TGGAAATAGACTCAGATTTTGGTGGCTTCCGGGTAAATGCAGAGCTACAAGCACGCTCTAA
142083484	481194	NM_145869.1(ANXA11):c.112G>A (p.Gly38Arg)	ANXA11	Jan 30, 2018	MedGen:CN778765,OMIM:617839	AMYOTROPHIC LATERAL SCLEROSIS 23	germline	10	80170859	TACCCTCCTCCGCCCAGCATGCCCCCCATCGGGCTGGATAACGTGGCCACCTATGCGGGGC
59270054	77779	NM_170707.3(LMNA):c.244G>A (p.Glu82Lys)	LMNA	Mar 25, 2017	MedGen:CN043576;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Primary dilated cardiomyopathy;not provided	germline	1	156115162	CGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCC
113436208	77776	NM_170707.3(LMNA):c.1968+1G>A	LMNA	Aug 01, 2015	MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004;MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED CT:400128006;MedGen:CN517202	Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;not provided	germline	1	156138758	CTCCTGGGCAACTCCAGCCCCCGAACCCAGGTGAGTTGTCTCTGCTTTGTCTCCAAATCCT
137853861	34025	NM_000403.3(GALE):c.905G>A (p.Gly302Asp)	GALE	Jan 25, 2011	MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004	UDPglucose-4-epimerase deficiency	not provided	1	23796234	TCCCGTACAAGGTGGTGGCACGGCGGGAAGGTGATGTGGCAGCCTGTTACGCCAACCCCAG
104894503	27495	NM_001018005.1(TPM1):c.523G>A (p.Asp175Asn)	TPM1	Aug 25, 2017	MedGen:C1861863,OMIM:115196;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 3;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	15	63060899	GTGGCCCGTAAGCTGGTCATCATTGAGAGCGACCTGGAACGTGCAGAGGAGCGGGCTGAGC
-1	434794	NM_004366.5(CLCN2):c.515G>A (p.Arg172Gln)	CLCN2	Sep 25, 2017	Gene:79179,MedGen:C1854107,OMIM:605635,Orphanet:ORPHA404	Hyperaldosteronism, familial, type II	germline	3	184358062	CTGGCATCCCTGAGATGAAGACCATCTTGCGGGGAGTGGTGCTGAAAGAATACCTCACACT
397515521	76495	NM_000207.2(INS):c.3G>A (p.Met1Ile)	INS	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	2160969	CTGTCTCCCAGATCACTGTCCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTG
397516835	151761	NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr)	SDHB	Dec 05, 2015	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome	germline	1	17024040	GGCTCTACGAGTGCATTCTCTGTGCCTGCTGTAGCACCAGCTGCCCCAGCTACTGGTGGAA
113994111	32455	NM_001845.5(COL4A1):c.3389G>A (p.Gly1130Asp)	COL4A1	Mar 08, 2011	MedGen:CN032791,OMIM:175780	Porencephaly 1	germline	13	110174463	AAGGCCTCCCAGGATTGGATGGCATCCCTGGTGTCAAAGGAGAAGCAGGTAGAGGGCCCTC
1057518731	353955	NM_001098426.1(SMARCD2):c.1181+1G>A	SMARCD2	May 25, 2017	MedGen:CN239554;MedGen:C0398593,OMIM:245480,SNOMED CT:234431006;MedGen:CN244006,OMIM:617475	Autosomal recessive severe congenital neutropenia;Specific granule deficiency;Specific granule deficiency 2	germline	17	63833908	AGACCCCATTGTCATCAACCATGTCATTAGGTAAATGCAAGGAGGGGGACAGGAAGGCTCT
200288072	370142	NM_000426.3(LAMA2):c.283+1G>A	LAMA2	Mar 26, 2017	MedGen:CN117977;MedGen:CN517202	Laminin alpha 2-related dystrophy;not provided	germline	6	129050089	TCTGCAATCAAAACAGCAGCAATCCAAACCGTATGTATTTTAGTGTGTAGGTGTGTGGCGC
199874059	16430	NM_017777.3(MKS1):c.1024+1G>A	MKS1	Jun 01, 2007	MedGen:C3714506,OMIM:249000	Meckel syndrome type 1	germline	17	58210658	TCCACTTCTTTGTAGAATTGCCAACTGCTCGTAAGTAATATTCTTAAGTCTCTCCTTTTAT
587779552	107002	NM_000090.3(COL3A1):c.3032G>A (p.Gly1011Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005450	CTGGTCTGGCTGGTACAGCTGGTGAACCTGGAAGAGATGTGAGTAGCAGTTTTTATTCAAC
45517213	58898	NM_000548.4(TSC2):c.2108G>A (p.Trp703Ter)	TSC2	Jul 01, 2014	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2072251	GACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCT
104886165	35838	NM_000495.4(COL4A5):c.2219G>A (p.Gly740Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108603036	CTGGAAGAATTGGTCTAGAAGGCCCTCCTGGGCCACCCGGCTTTCCAGGACCAAAGGTCTG
1057520299	380137	NM_018684.3(ZC4H2):c.53G>A (p.Arg18Lys)	ZC4H2	Mar 02, 2017	MedGen:C0796200,OMIM:314580,Orphanet:ORPHA3454	Wieacker syndrome	germline	X	64976325	TGTGCAAATTGGAAAGCATTAAAGAGATCAGGTAAGTGGCACGTTGTCCCCCTCCCCGCCC
1131691162	421084	NM_000051.3(ATM):c.7032G>A (p.Trp2344Ter)	ATM	Dec 07, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108327701	CACAGAATGTCTGAGGGTTTGTGGCAACTGGTTAGCAGAAACGTGCTTAGAAAATCCTGCG
774122562	205171	NM_002905.3(RDH5):c.285G>A (p.Trp95Ter)	RDH5	Aug 28, 2017	Human Phenotype Ontology:HP:0030642,MedGen:C0311338,OMIM:136880,Orphanet:ORPHA227796,SNOMED CT:68222009;MedGen:CN517202	Pigmentary retinal dystrophy;not provided	germline	12	55721469	TCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAG
886039442	259756	NM_003722.4(TP63):c.956G>A (p.Arg319His)	TP63	Jun 12, 2017	MedGen:CN517202	not provided	germline	3	189867906	ACAGCAGTTGTGTTGGAGGGATGAACCGCCGTCCAATTTTAATCATTGTTACTCTGGAAAC
587779065	95979	NM_000251.2(MSH2):c.1013G>A (p.Gly338Glu)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47416366	CCTTGCTGAATAAGTGTAAAACCCCTCAAGGACAAAGACTTGTTAACCAGTGGATTAAGCA
201968272	48508	NM_030653.3(DDX11):c.788G>A (p.Arg263Gln)	DDX11	Feb 22, 2013	MedGen:C3150658,OMIM:613398,Orphanet:ORPHA280558	Warsaw breakage syndrome	germline	12	31089147	AGGATGTTCGGCTGGTCTCCCTTGGCTCCCGGCAGGTAAACAGTAGCCAGTATTTCCACCA
78440224	68679	NM_000492.3(CFTR):c.579+5G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117534370	CCAACAACCTGAACAAATTTGATGAAGTATGTACCTATTGATTTAATCTTTTAGGCACTAT
-1	459290	NM_000118.3(ENG):c.1134G>A (p.Ala378=)	ENG	Mar 21, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004	Osler hemorrhagic telangiectasia syndrome	germline	9	127824304	GACCCTGGTACTAAAGAAAGAGCTTGTTGCGGTAAGGGAACTCCTGCCCCTCTGGCTCAGG
121918676	27653	NM_001063.3(TF):c.830G>A (p.Gly277Asp)	TF	May 01, 1984	na	Transferrin variant d1	germline	3	133756969	CTCATACCGTCGTGGCCCGAAGTATGGGCGGCAAGGAGGACTTGATCTGGGAGCTTCTCAA
587779591	107051	NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999349	CTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGG
111505097	107127	NM_000090.3(COL3A1):c.3545G>A (p.Gly1182Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008943	ACTCATTCTAGGGCTCCCCAGGCCACCCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGC
121909254	23094	NM_005055.4(RAPSN):c.133G>A (p.Val45Met)	RAPSN	Jul 01, 2007	MedGen:C4225367,OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	germline	11	47448832	AAGAGCTCGGACCTCATGGGGCGCTTCCGCGTGCTGGGCTGCCTGGTCACAGCCCACTCGG
587783778	170049	NM_000252.2(MTM1):c.1337G>A (p.Trp446Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150659740	CTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAG
-1	477936	NM_000267.3(NF1):c.663G>A (p.Trp221Ter)	NF1	Nov 25, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31181718	ACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTT
397508838	68801	NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43094416	AGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGT
-1	474197	NM_005732.3(RAD50):c.1736G>A (p.Trp579Ter)	RAD50	Jun 15, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132591977	ATTTTCCCAACAAAAAACAGCTTGAAGACTGGCTACATAGTAAATCAAAAGAAATTAATCA
587783779	170051	NM_000252.2(MTM1):c.1353+1G>A	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150659757	ATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCA
587776578	18610	NM_016169.3(SUFU):c.1022+1G>A	SUFU	May 11, 2017	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002;MedGen:C0751291,Orphanet:ORPHA251863;MedGen:CN517202	Gorlin syndrome;Medulloblastoma, desmoplastic;not provided	germline;somatic	10	102599545	GCAGAATGGCCTCGCCCACGACCGGGCCCCGTAAGTTCCCCAGTGTCCCTGGGCTGGAACA
397514421	36421	NM_000060.4(BTD):c.1388G>A (p.Cys463Tyr)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645244	ACTACATCCAAGTGTGTGCCCTGGTCAGGTGTGGGGGTCTTGGCTTCGACACCTGTGGACA
1085307306	414251	NM_001204.6(BMPR2):c.1156G>A (p.Glu386Lys)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532612	CAGGTTGGCACTATCAGATATATGGCACCAGAAGTGCTAGAAGGAGCTGTGAACTTGAGGG
193919335	19027	NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn)	POMGNT1	Jun 25, 2014	na;MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3;Muscle eye brain disease	germline;unknown	1	46190473	CTTATGAAGTGGAAGTTCACAGGCTGCTCAGGTATGGCCTAGGACAATTGGGGTGTAGCAG
397514369	36357	NM_000060.4(BTD):c.557G>A (p.Cys186Tyr)	BTD	Jul 17, 2017	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	germline	3	15644413	AGGAGCCTTGTCATAGCAGTGACCCAAGGTGCCCAAAAGATGGGAGATACCAGTTCAACAC
756204866	439563	NM_014285.6(EXOSC2):c.593G>A (p.Gly198Asp)	EXOSC2	Nov 10, 2017	MedGen:CN603946,OMIM:617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	germline	9	130702231	ATTTGCCATGTGGTGCCTCAGTGATTCTCGGTAACAACGGCTTCATCTGGATTTACCCAAC
398123220	98472	NM_000169.2(GLA):c.734G>A (p.Trp245Ter)	GLA	Jul 31, 2015	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398852	CCTGGAAAAGTATAAAGAGTATCTTGGACTGGACATCTTTTAACCAGGAGAGAATTGTTGA
121913670	28922	NM_001127500.2(MET):c.3712G>A (p.Val1238Ile)	MET	Aug 16, 2016	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	germline	7	116783329	TGTAGGCTGGATGAAAAATTCACAGTCAAGGTTGCTGATTTTGGTCTTGCCAGAGACATGT
62514907	15633	NM_000277.2(PAH):c.442-1G>A	PAH	Mar 28, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102866664	CTTGAAAAATCAGGTGTCTCTTTTCTCCTAGGGTTTTAAAGATCCTGTGTACCGTGCAAGA
869025187	76424	m.14279G>A	MT-ND6	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	14279	GCACCAATAGGATCCTCCCGAATCAACCCTGACCCCTCTCCTTCATAAATTATTCAGCTTC
-1	471580	NM_002872.4(RAC2):c.184G>A (p.Glu62Lys)	RAC2	Jul 07, 2016	MedGen:C1842398,OMIM:608203,Orphanet:ORPHA183707	Neutrophil immunodeficiency syndrome	germline	22	37232842	AACCTGGGGCTGTGGGACACTGCTGGGCAGGAGGACTACGACCGTCTCCGGCCGCTCTCCT
863224527	212931	NM_130799.2(MEN1):c.1664G>A (p.Ser555Asn)	MEN1	Jan 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1;not specified	germline	11	64804503	CGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCT
121965030	26962	NM_000203.4(IDUA):c.898G>A (p.Ala300Thr)	IDUA	Jan 01, 1996	MedGen:C4016443	IDUA pseudodeficiency	germline	4	1002087	TTCGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGGTGGGCTGGTCCCTGCCAC
121918188	15907	NM_000507.3(FBP1):c.490G>A (p.Gly164Ser)	FBP1	Mar 27, 2017	MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005	Fructose-biphosphatase deficiency	germline	9	94609998	CTGCAACCAGGCCGGAACCTGGTGGCAGCCGGCTACGCACTGTATGGCAGTGCCACCATGC
1114167408	414026	NM_000088.3(COL1A1):c.563G>A (p.Gly188Asp)	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50198186	TCCCTCTATAGGGTCCCTCTGGTCCTCGTGGTCTCCCTGGCCCCCCTGGTGCACCTGTGAG
121918715	27543	NM_001024847.2(TGFBR2):c.1599G>A (p.Gln533=)	TGFBR2	Aug 01, 2017	MedGen:C2674876,OMIM:610168	Loeys-Dietz syndrome 2	germline	3	30688511	AGAAATTCCCAGCTTCTGGCTCAACCACCAGGTAAGGAGTGAGTGTTTACAAAGGTCAGTA
369035155	131944	NM_015474.3(SAMHD1):c.428G>A (p.Arg143His)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36935110	TCCGAATCATTGATACACCTCAATTTCAACGTCTTCGATACATCAAACAGCTGGGAGGTGG
121912468	29782	NM_000213.4(ITGB4):c.3674G>A (p.Arg1225His)	ITGB4	Dec 01, 2001	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403	Epidermolysis bullosa junctionalis with pyloric atresia	germline	17	75750992	CCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGT
200095793	236725	NM_003052.4(SLC34A1):c.1006+1G>A	SLC34A1	Oct 06, 2016	OMIM:616963;MedGen:CN517202	Hypercalcemia, infantile, 2;not provided	germline	5	177393764	AGACCCTTGGAAATGCCACCATGGAGAAATGTAAGTGCCTGCAACATGGGAGGTGTCCTGC
869312907	226722	NM_001844.4(COL2A1):c.619G>A (p.Gly207Arg)	COL2A1	Oct 01, 2015	MedGen:C4225273,OMIM:616583,Orphanet:ORPHA459051	Spondyloepiphyseal dysplasia, stanescu type	de novo;germline	12	47995910	TCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTG
730882146	181190	NM_006493.2(CLN5):c.935G>A (p.Ser312Asn)	CLN5	Jan 01, 2015	MedGen:C1850442,OMIM:256731,Orphanet:ORPHA228360	Ceroid lipofuscinosis neuronal 5	germline	13	77000680	AAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAAC
80358027	46140	NM_007294.3(BRCA1):c.4357+1G>A	BRCA1	Jul 31, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43082403	GAAATCCAGAACAAAGCACATCAGAAAAAGGTGTGTATTGTTGGCCAAACACTGATATCTT
398123049	76344	NM_016434.3(RTEL1):c.2233G>A (p.Val745Met)	RTEL1	Aug 15, 2013	MedGen:C3554656,OMIM:615190	Dyskeratosis congenita, autosomal recessive, 5	germline	20	63690178	TATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAA
121908482	20822	NM_014270.4(SLC7A9):c.583G>A (p.Gly195Arg)	SLC7A9	Jan 01, 2005	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	19	32862482	CTGGTGATCGTGGCCATCATCATCATCAGCGGGCTGGTGCTCCTGGCCCAAGGTGACCCAC
1131691026	420663	NM_000546.5(TP53):c.438G>A (p.Trp146Ter)	TP53	Sep 06, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	7675174	ACTGGCCAAGACCTGCCCTGTGCAGCTGTGGGTTGATTCCACACCCCCGCCCGGCACCCGC
756552975	366348	NM_001256850.1(TTN):c.71942G>A (p.Trp23981Ter)	TTN	Apr 30, 2015	MedGen:CN517202	not provided	germline	2	178569267	AAATCACCAAAGACTCAGTATCAATTACATGGGAACCTCCTTTGTTGGATGGGGGATCCAA
104894231	27646	NM_005343.3(HRAS):c.436G>A (p.Ala146Thr)	HRAS	May 31, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;MeSH:D015179,MedGen:CN236642;MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D002583,MedGen:CN236667	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of stomach;Colorectal Neoplasms;Costello syndrome;Multiple myeloma;Uterine cervical neoplasms	germline;somatic	11	533467	AGCTACGGCATCCCCTACATCGAGACCTCGGCCAAGACCCGGCAGGTGAGGCAGCTCTCCA
116840821	33938	NM_000166.5(GJB1):c.556G>A (p.Glu186Lys)	GJB1	Apr 15, 2010	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	X-linked hereditary motor and sensory neuropathy	not provided	X	71224263	ACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAG
398123496	99258	NM_000709.3(BCKDHA):c.288+1G>A	BCKDHA	Oct 23, 2015	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001;MedGen:CN517202	Maple syrup urine disease;not provided	germline	19	41410817	CAGATCATCAACCCCAGCGAGGACCCCCACGTGAGAGGCGGCCTCCCCCACTTCCCGTGCC
886043875	272603	NM_003742.2(ABCB11):c.150+1G>A	ABCB11	Jun 19, 2016	MedGen:C2608083,OMIM:605479,Orphanet:ORPHA99961	Benign recurrent intrahepatic cholestasis 2	germline	2	169014302	GATGGCGTTAGAGTTGGCTTCTTTCAATTGGTAATAAAACTGTGTTGATTTATGGCAGTGG
281865470	40356	NM_001193466.1(KANSL1):c.1652+1G>A	KANSL1	Mar 09, 2017	Gene:791085,MedGen:C1864871,OMIM:610443;MedGen:CN517202	Koolen-de Vries syndrome;not provided	germline	17	46067548	ACTCAGACCTGTCAATGGAGTTATTAACACGTAAGTTTTAGCTCTTCTACTTCCTACACTT
794726848	187883	NM_001165963.1(SCN1A):c.70G>A (p.Ala24Thr)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166073552	TTCAACTTCTTCACCAGAGAATCTCTTGCGGCTATTGAAAGACGCATTGCAGAAGAAAAGG
1057517816	360575	NM_000330.3(RS1):c.668G>A (p.Cys223Tyr)	RS1	Sep 17, 2015	MedGen:CN517202	not provided	germline	X	18642011	GGATGGAGCTGCTGGAGTGCGTCAGCAAGTGTGCCTGATGCCTGCCTCAGCTCGGCGCCTG
60627726	29672	NM_005555.3(KRT6B):c.1414G>A (p.Glu472Lys)	KRT6B	Jun 17, 2016	MedGen:C3714949,OMIM:615728;MedGen:CN517202	Pachyonychia congenita 4;not provided	germline	12	52447788	ATCGCCACCTACCGCAAGCTGCTGGAGGGCGAGGAGTGCAGGTGGGTAACTGACGCGACTT
72656386	413951	NM_000089.3(COL1A2):c.794G>A (p.Gly265Asp)	COL1A2	-	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	unknown	7	94409323	TAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCC
794728826	196690	NM_001035.2(RYR2):c.11934G>A (p.Met3978Ile)	RYR2	Nov 28, 2011	MedGen:CN517202	not provided	germline	1	237781618	AAAAGAATTAATGGATCTGCAGAAGGATATGGTGGTCATGTTGCTGTCCATGTTAGAAGGT
886041328	265038	NM_004586.2(RPS6KA3):c.1934G>A (p.Trp645Ter)	RPS6KA3	Mar 11, 2016	MedGen:CN517202	not provided	germline	X	20161669	GCGGAAAATTCTCACTCAGTGGTGGTTACTGGAATTCTGTTTCAGACACAGCAAAGGTAAG
104893889	22574	NM_004465.1(FGF10):c.413G>A (p.Gly138Glu)	FGF10	Mar 01, 2007	MedGen:C0158667,OMIM:180920,Orphanet:ORPHA86815,SNOMED CT:22589009	Congenital absence of salivary gland	germline	5	44310443	GCAACTATTACTTAGCCATGAACAAGAAGGGGAAACTCTATGGCTCAGTAAGTATTCTGCT
387907076	39927	NM_024027.4(COLEC11):c.610G>A (p.Gly204Ser)	COLEC11	Mar 01, 2011	MedGen:C0796279,OMIM:265050	Carnevale syndrome	germline	2	3643912	GCGCAAGCCGGCCTGGCCCGTGTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCT
199473522	78177	NM_000238.3(KCNH2):c.1810G>A (p.Gly604Ser)	KCNH2	Dec 30, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	7	150951583	GGCAAACCCTACAACAGCAGCGGCCTGGGCGGCCCCTCCATCAAGGACAAGTATGTGACGG
121912980	31901	NM_000031.5(ALAD):c.397G>A (p.Gly133Arg)	ALAD	Jul 01, 1991	MedGen:C0268328,OMIM:612740,Orphanet:ORPHA95157,SNOMED CT:64081000	Porphobilinogen synthase deficiency	germline	9	113390798	CTGTGTCCCTACACCTCCCATGGTCACTGCGGTGAGTTCCCTCCCTCCCACCAGCCCTGCT
374319146	181410	NM_033115.4(TBCK):c.1708+1G>A	TBCK	Jan 13, 2015	MedGen:CN228286;MedGen:CN228290;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:C4225161,OMIM:616900;Human Phenotype Ontology:HP:0001252,MedGen:C0026827;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:C3150353	Delayed reflexes;Dysmorphism;Global developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 3;Muscular hypotonia;Seizures;Ventral septal defect	germline	4	106194717	CCATCCCTTGGTTTCTTACCATGTTTACTCGTAAGTATGACTTCCCCCGGTTTTTTTGATA
104886434	35636	NM_000495.4(COL4A5):c.609+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108575973	ATTGGTCCCCCAGGACCACCAGGTTTGATGGTAAGCTCTCTTCTTTAATTTAATTTCCCCC
122445101	26770	NM_000489.4(ATRX):c.6392G>A (p.Arg2131Gln)	ATRX	Jul 29, 2014	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847;MedGen:C0796003,OMIM:309580,Orphanet:ORPHA93972;MedGen:C4016452	ATR-X syndrome;Mental retardation-hypotonic facies syndrome X-linked, 1;Mental retardation-hypotonic facies syndrome, X-linked	germline	X	77558781	CTCTAGGAATTAATCTGGTAGCTGCTAATCGAGTAATTATATTCGACGCTTCTTGGAATCC
750663117	234071	NM_000051.3(ATM):c.3078-1G>A	ATM	Aug 03, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108272531	ATTTAACTTTGGAAAACTTACTTGATTTCAGGCATCTAACAAAGGAGAGGAAATATATATT
1057518770	360966	NM_000462.3(UBE3A):c.2281G>A (p.Gly761Arg)	UBE3A	May 07, 2016	Human Phenotype Ontology:HP:0001273,MedGen:C1842581;Human Phenotype Ontology:HP:0002353,MedGen:C0151611;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0002465,MedGen:C1848207;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Abnormality of the corpus callosum;EEG abnormality;Expressive language delay;Global developmental delay;Poor speech;Seizures	unknown	15	25354536	AGACCAGAAGAAATTGAATTGCTTATATGTGGAAGCCGGGTAAGAAAGCAGGTGTCTGCAA
397516347	52551	NM_000363.4(TNNI3):c.422G>A (p.Arg141Gln)	TNNI3	Sep 15, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	19	55154157	AGATCTTTGACCTTCGAGGCAAGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGC
863225082	188114	NM_006245.3(PPP2R5D):c.592G>A (p.Glu198Lys)	PPP2R5D	Nov 15, 2017	MedGen:C4225354,OMIM:616355,Orphanet:ORPHA457279;MedGen:CN517202	Mental retardation, autosomal dominant 35;not provided	de novo;germline	6	43007265	AATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGC
104895097	17588	NM_000243.2(MEFV):c.2282G>A (p.Arg761His)	MEFV	Sep 08, 2017	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:CN517202	Familial Mediterranean fever;not provided	germline;unknown	16	3243205	CCCTTCAACCTATCTTCAGCCCTGGGACACGTGATGGAGGGAAGAACACAGCTCCTCTGAC
113994098	28541	NM_002693.2(POLG):c.2542G>A (p.Gly848Ser)	POLG	Oct 26, 2017	MedGen:C1834846,OMIM:157640;MedGen:C1850303,OMIM:258450,Orphanet:ORPHA254886;MedGen:C1850303,OMIM:258450,Orphanet:ORPHA254886;MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298;MedGen:C3150914,OMIM:613662;MedGen:C3150914,OMIM:613662;MedGen:CN180166;MedGen:CN239393;MedGen:C1868097;MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED CT:20415001;MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED CT:20415001;MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595;MedGen:CN517202	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial DNA depletion syndrome 4B, MNGIE type;Mitochondrial DNA depletion syndrome 4B, MNGIE type;POLG-Related Disorders;POLG-Related Spectrum Disorders;Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic;Progressive sclerosing poliodystrophy;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;not provided	germline;unknown	15	89321792	GGGGCCATCCTGCCCCAAGTGGTGACTGCCGGCACCATCACTCGCCGGGCTGTGGAGCCCA
587778857	132352	NM_000321.2(RB1):c.1695+1G>A	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48381444	CGAATCATGGAATCCCTTGCATGGCTCTCAGTAAGTAGCTAAATAATTGAAGAAATTCATT
72559734	487507	NM_000352.4(ABCC8):c.221G>A (p.Arg74Gln)	ABCC8	Jul 27, 2017	MedGen:C3888018,Orphanet:ORPHA276525	Familial hyperinsulinism	germline	11	17474955	CATGGCTTCATTTCCCTGGGCACAACCTGCGGTGGATCCTGACCTTCATGCTGCTCTTCGT
199849117	441915	NM_000339.2(SLC12A3):c.2981G>A (p.Cys994Tyr)	SLC12A3	May 23, 2017	MedGen:CN517202	not provided	germline	16	56913293	GCACTTTGCCCATAGGGAGGAAGGGGAAGTGCCCCAGCTCGCTGTACATGGCCTGGCTGGA
104894891	25993	NM_000475.4(NR0B1):c.513G>A (p.Trp171Ter)	NR0B1	Feb 01, 1996	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308851	AGCGCCCGAGGCACGGCCAGGGGGCGCGTGGTGGGACCGCTCCTACTTCGCGCAGAGGCCA
-1	426512	NM_025160.6(WDR26):c.850G>A (p.Asp284Asn)	WDR26	Aug 15, 2017	MedGen:CN399088,OMIM:617616	SKRABAN-DEARDORFF SYNDROME	germline	1	224419530	AAAGGGACAGCTTCCCGATCTAAACTATTGGATAAACTTCAGAGTAAGAGTCTTAATTTTT
886041333	265121	NM_000206.2(IL2RG):c.924+1G>A	IL2RG	Jul 11, 2017	MedGen:CN517202	not provided	germline	X	71108276	CTTGTTACTGAATACCACGGGAACTTTTCGGTGAGAACGCTGTCATAAGCATGCTGCAGTC
137854219	58524	NM_000548.4(TSC2):c.5219G>A (p.Trp1740Ter)	TSC2	Apr 19, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2088285	CCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCT
113993975	34191	NM_002863.4(PYGL):c.698G>A (p.Gly233Asp)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	not provided	14	50921030	TGGCTCTGCCATATGACACCCCCGTGCCCGGCTACATGAATAACACTGTCAACACCATGCG
80338717	34369	NM_014251.2(SLC25A13):c.615+5G>A	SLC25A13	Jan 05, 2012	MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598	Neonatal intrahepatic cholestasis caused by citrin deficiency	not provided	7	96193032	CTTTTGTAGAAGAATGTCTAGTAGCTGTAAGTTGTAACTTGCCCTAATGAAGTGGTTTAAC
587780290	134019	NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln)	CAPN3	May 18, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline;unknown	15	42410646	AGTCCGGCACCATCAACAGCTACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAA
398123039	75074	NM_002246.2(KCNK3):c.608G>A (p.Gly203Asp)	KCNK3	Jul 11, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:C3809198,OMIM:615344	Primary pulmonary hypertension;Primary pulmonary hypertension 4	germline	2	26727991	GCTTCATCACCCTCACCACCATCGGCTTCGGCGACTACGTGGCGCTGCAGAAGGACCAGGC
201599657	269760	NM_024596.4(MCPH1):c.2145G>A (p.Trp715Ter)	MCPH1	May 01, 2017	MedGen:C1855081,OMIM:251200;MedGen:CN517202	Primary autosomal recessive microcephaly 1;not provided	germline	8	6499860	CTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAG
797045048	205786	NM_002204.3(ITGA3):c.2070+1G>A	ITGA3	Nov 04, 2014	MedGen:C3553636,OMIM:614748,Orphanet:ORPHA306504	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	paternal	17	50077122	CCCGCCCTGCTGCTGTCCTCAGTGCGCCCCGTGAGTGCCCGCCGGCCGGCTCAGAGCCCAA
72657702	427095	NM_001171.5(ABCC6):c.37-1G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16221832	CATCCTAAGGGTCCTCTTTGTGTTCCCTCAGGTCTGGAACCAGACAGAGCCTGAACCTGCC
794728240	197669	NM_000138.4(FBN1):c.5801G>A (p.Cys1934Tyr)	FBN1	Nov 06, 2013	MedGen:CN517202	not provided	germline	15	48445492	TTGGGGATTTTTCTGCAGATGTTGATGAATGTGCAAGTGGAAATGGGAATCTTTGCAGAAA
267606636	16988	NM_030957.3(ADAMTS10):c.1553G>A (p.Gly518Asp)	ADAMTS10	Nov 01, 2009	MedGen:C1869114,OMIM:277600	Weill-Marchesani syndrome 1	germline	19	8592797	GCATCACCAACAGCATCCCGGCCGCCGAGGGCACGCTGTGCCAGACGCACACCATCGACAA
797045050	205730	NM_004321.7(KIF1A):c.38G>A (p.Arg13His)	KIF1A	Dec 17, 2015	Human Phenotype Ontology:HP:0001258,MedGen:C1846589;MedGen:CN517202	Spastic paraplegia;not provided	de novo;germline	2	240797715	GGGCTTCGGTGAAGGTGGCGGTGCGGGTCCGCCCCTTCAATTCCCGGGAAATGAGCCGTGA
368924997	206609	NM_024531.4(SLC52A2):c.1258G>A (p.Ala420Thr)	SLC52A2	Aug 16, 2016	MedGen:C3553538,OMIM:614707;MedGen:CN517202	Brown-Vialetto-Van Laere syndrome 2;not provided	germline	8	144360935	GTGGCCATCCAGGTGGGCTCTCTGCTCGGCGCTGTTGCTATGTTCCCCCCGACCAGCATCT
267608172	96804	NM_000535.6(PMS2):c.2174+1G>A	PMS2	Oct 16, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1838333,OMIM:614337;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided	germline;unknown	7	5982823	CACCGTGCTCCAGGGGCAGAGGCTCATAGCGTGAGTGTGTTTAGTGTTCATTCCCAGACTC
80358205	23765	NM_005267.4(GJA8):c.593G>A (p.Arg198Gln)	GJA8	Mar 30, 2012	MedGen:C1861828,OMIM:116200	Cataract 1	de novo;germline	1	147908548	GCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTT
118203610	58025	NM_000368.4(TSC1):c.1997+1G>A	TSC1	Jan 30, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	9	132905580	AGCAGACGCGCACAGCAAGGAGCTGAACAAGTAAGGGACTGGGGCACTCTCTTCTGTGTTA
104886114	35747	NM_000495.4(COL4A5):c.1397G>A (p.Gly466Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591618	CAGGCCCCCCAGGATCTCCAGGTGATAAAGGACTCCAAGGAGAACAAGGAGTGAAAGGTTT
199469632	39480	NM_017415.2(KLHL3):c.1298G>A (p.Ser433Asn)	KLHL3	Jan 22, 2012	MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism type 2D;Pseudohypoaldosteronism, type 2	germline	5	137637317	TTGTGGCCCCGATGAACACGCGGCGGAGCAGTGTGGGTGTGGGCGTTGTGGAGGGTAAGGA
760609867	361762	NM_007198.3(PLPBP):c.722G>A (p.Arg241Gln)	PLPBP	Jan 07, 2017	MedGen:C4310632,OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	germline	8	37777998	CACAGGTTGAAGTAGGATCTACAAATGTCCGAATAGGAAGCACGATTTTTGGAGAGCGGGA
72554341	103039	NM_000531.5(OTC):c.269G>A (p.Ser90Asn)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369848	AGTCCTTAGGCATGATTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAGG
104894115	18051	NM_133497.3(KCNV2):c.1376G>A (p.Gly459Asp)	KCNV2	Sep 01, 2006	MedGen:C1835897,OMIM:610356,Orphanet:ORPHA209932	Retinal cone dystrophy 3B	germline	9	2729465	TTCCTCTACAGGTGAGCATCTCCACCGTGGGCTACGGAGACATGTACCCAGAGACCCACCT
762659685	203358	NM_000833.4(GRIN2A):c.2146G>A (p.Ala716Thr)	GRIN2A	Mar 16, 2016	MedGen:C1832814,OMIM:245570;MedGen:CN517202	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided	germline	16	9822286	ACCAAATTTAATCAGAAAGGAGTAGAGGACGCCTTGGTCAGCCTGAAAACGGGGTAAGGAT
747171013	227499	NM_004273.4(CHST3):c.1063G>A (p.Gly355Arg)	CHST3	May 03, 2016	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72008094	TGCGAGAGCATCCGCCTGTCCGCGGAGCTGGGGCTGCGGCAGCCCGCCTGGCTGCGGGGCC
104894505	27497	NM_001018005.1(TPM1):c.160G>A (p.Glu54Lys)	TPM1	Oct 06, 2016	MedGen:C2678476,OMIM:611878;MedGen:CN517202	Dilated cardiomyopathy 1Y;not provided	germline	15	63044072	GTGTCACTGCAAAAGAAACTCAAGGGCACCGAAGATGAACTGGACAAATACTCTGAGGCTC
368743618	178369	NM_006000.2(TUBA4A):c.1147G>A (p.Ala383Thr)	TUBA4A	Oct 22, 2014	MedGen:C4015512,OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	germline	2	219250552	CGTGCCGTGTGCATGCTGAGCAACACGACCGCCATCGCCGAGGCCTGGGCCCGCCTGGACC
199473218	78728	NM_198056.2(SCN5A):c.3883G>A (p.Glu1295Lys)	SCN5A	Jul 29, 2013	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	3	38562495	AGCCTGGTGGCCAACACCCTGGGCTTTGCCGAGATGGGCCCCATCAAGTCACTGCGGACGC
587783013	166163	NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135433119	CAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCAT
80358216	27223	NM_001166120.1(HSD3B2):c.512G>A (p.Trp171Ter)	HSD3B2	Jul 01, 1992	MedGen:C0342471,OMIM:201810,SNOMED CT:54470008	3 beta-Hydroxysteroid dehydrogenase deficiency	germline	1	119422013	CTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACAC
104886349	35589	NM_000495.4(COL4A5):c.231+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108559154	GAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCA
80358004	102845	NM_007294.3(BRCA1):c.5193+1G>A	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43063332	TCTATTAAAGAAAGAAAAATGCTGAATGAGGTAAGTACTTGATGTTACAAACTAACCAGAG
398122820	40563	NM_004048.2(B2M):c.286G>A (p.Asp96Asn)	B2M	Oct 10, 2012	MedGen:C0268389,OMIM:105200,Orphanet:ORPHA85450,SNOMED CT:66451004	Familial visceral amyloidosis, Ostertag type	germline	15	44715641	TACTACACTGAATTCACCCCCACTGAAAAAGATGAGTATGCCTGCCGTGTGAACCATGTGA
202037016	48131	NM_000359.2(TGM1):c.1075G>A (p.Val359Met)	TGM1	Jan 18, 2013	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24259159	GGCACCAACCCATCAGCGTGGGTGGGCAGCGTGGAGATCCTGCTTAGCTACCTACGCACGG
201948406	259804	NM_001182.4(ALDH7A1):c.834G>A (p.Val278=)	ALDH7A1	Sep 25, 2017	MedGen:C1849508,OMIM:266100;MedGen:CN517202	Pyridoxine-dependent epilepsy;not provided	germline	5	126568296	CCTGCTGTCCTTCACTGGGAGCACTCAGGTGGGAAAACAGGTGGGCCTGATGGTGCAGGAG
397509419	75099	NM_152393.3(KLHL40):c.1582G>A (p.Glu528Lys)	KLHL40	Jul 11, 2013	MedGen:C3809209,OMIM:615348	Nemaline myopathy 8	germline	3	42689029	GTCACCGACACAGGGCTGACCAGTTCTGCCGAAGTGTACAGCATCACAGACAACAAGTATG
121964980	27029	NM_000170.2(GLDC):c.2216G>A (p.Arg739His)	GLDC	Apr 12, 2005	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	9	6554768	CCTTGCCTTTGTGGTAGGTGGGAATCTGTCGCCCTGGAGACTTCGGGTCTGATGTCTCGCA
587779549	106999	NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999498	AGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAAT
121913666	28937	NM_005378.5(MYCN):c.1145G>A (p.Arg382His)	MYCN	Sep 01, 2008	MedGen:C0796068,OMIM:164280	Feingold syndrome 1	germline	2	15945847	CCCGAAACTCTGACTCGGAGGACAGTGAGCGTCGCAGAAACCACAACATCCTGGAGCGCCA
185551386	367924	NM_003060.3(SLC22A5):c.680G>A (p.Arg227His)	SLC22A5	Mar 27, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline	5	132385355	CAGGGACAGAAATTCTTGGCAAGTCAGTTCGTATAATATTCTCTACGTTAGGAGTGTGCAT
875989894	228125	NM_000527.4(LDLR):c.266G>A (p.Cys89Tyr)	LDLR	May 26, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102739	TCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTC
869312845	226619	NM_177559.2(CSNK2A1):c.140G>A (p.Arg47Gln)	CSNK2A1	Aug 05, 2016	MedGen:C4310739,OMIM:617062	Okur-chung neurodevelopmental syndrome	germline	20	505191	ATGACTACCAGCTGGTTCGAAAATTAGGCCGAGGTAAATACAGTGAAGTATTTGAAGCCAT
121912870	32400	NM_001844.4(COL2A1):c.3589G>A (p.Gly1197Ser)	COL2A1	Feb 16, 2017	Human Phenotype Ontology:HP:0002655,MedGen:C0038015,OMIM:183900,Orphanet:ORPHA253;MedGen:CN517202	Spondyloepiphyseal dysplasia congenita;not provided	germline	12	47975971	CCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTAAGTGTCCTGACTCCTTCCC
1064797040	406809	NM_000426.3(LAMA2):c.5866-1G>A	LAMA2	Mar 23, 2017	MedGen:CN517202	not provided	germline	6	129427751	AGATGTATGACATTTGTTTTTCTGTCCACAGGCAACAGGTCCTCGGGGTTTATTAAAGGAA
72653780	426980	NM_001171.5(ABCC6):c.1987G>A (p.Gly663Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182887	GTGCCCCAGGGCTGTCTGCTGGCTGTTGTCGGTCCAGTGGGGGCAGGGAAGTCCTCCCTGC
587782103	151623	NM_000051.3(ATM):c.3077G>A (p.Trp1026Ter)	ATM	Jun 18, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108271406	GACAGTTTCTTACAGTAATTGGAGCATTTTGGTAGGTACAGTCTATTTTGTGGTCCTATTT
587784009	168299	NM_133433.3(NIPBL):c.64+1G>A	NIPBL	Dec 27, 2016	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline;unknown	5	36953761	CTCTTGCGGGGATTGCTAGTCTCACAGACCGTAAGTTTGGTTAATTTATCTAATTTAAGTT
137853058	22085	NM_004562.2(PRKN):c.635G>A (p.Cys212Tyr)	PRKN	Apr 11, 2017	MedGen:C1868675,OMIM:600116	Parkinson disease 2	germline	6	161973401	TATCTTTCTTTCAGGAATTTTTCTTTAAATGTGGAGCACACCCCACCTCTGACAAGGAAAC
879253813	214549	NM_000532.4(PCCB):c.183+5G>A	PCCB	-	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136250563	GCCGTATTGACGCGCAGCACAAGCGAGTGAGTCCTGAGGGGCCTAAGTGAGTCCCGCCCCT
193922641	45055	NM_002185.4(IL7R):c.353G>A (p.Cys118Tyr)	IL7R	Aug 18, 2011	Human Phenotype Ontology:HP:0004430,MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:31323000	Severe combined immunodeficiency disease	germline	5	35867437	GTGTGAAGGTTGGAGAAAAGAGTCTAACCTGCAAAAAAATAGACCTAACCACTATAGGTAA
193922400	44276	NM_000352.4(ABCC8):c.3545G>A (p.Arg1182Gln)	ABCC8	Oct 30, 2014	MedGen:C0158981,Orphanet:ORPHA224,SNOMED CT:49817004;MedGen:C1835887,OMIM:610374	Neonatal diabetes mellitus;Transient neonatal diabetes mellitus 2	germline	11	17404524	TCGTGTGCTACTTCATCCAGAAGTACTTCCGGGTGGCGTCCAGGTGATGGCCTCAGGGGTG
398124094	100741	NM_004006.2(DMD):c.9361+1G>A	DMD	Oct 21, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31223046	AACTCCGAAGACTGCAGAAGGCCCTTTGCTGTAAGTATTGGCCAGTATTTGAAGATCTTGA
398124226	101288	NM_006363.5(SEC23B):c.689+1G>A	SEC23B	Sep 05, 2012	MedGen:CN517202	not provided	germline	20	18525021	ACCACAGGAGCACCCTTTTGCTTCAAGCAGGTGAGAGCCCAACATGGAGTGTTACACGTAT
121908164	19701	NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn)	KIF1B	Oct 01, 2008	MedGen:C2749485;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Neuroblastoma 1;Pheochromocytoma	germline	1	10365476	GACTTGGTGACAGCATCCCCAAATCCCTGAGCGACTCGTTATCCCCCAGCCTCAGCAGTGG
74821926	33224	NM_000477.5(ALB):c.71G>A (p.Arg24Gln)	ALB	Jan 01, 1990	MedGen:CN220290;MedGen:C0268345,OMIM:130060,SNOMED CT:55711009	Alloalbuminemia;Ehlers-Danlos syndrome, procollagen proteinase deficient	germline	4	73404398	GCTCGGCTTATTCCAGGGGTGTGTTTCGTCGAGATGCACGTAAGAAATCCATTTTTCTATT
587778859	132304	NM_000321.2(RB1):c.2101G>A (p.Asp701Asn)	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48459828	GAGTATGAACTCATGAGAGACAGGCATTTGGACCAAGTAAGAAAATCAAGCACTTCACCTT
727504305	174736	NM_000256.3(MYBPC3):c.3331-1G>A	MYBPC3	Aug 29, 2013	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	11	47332974	AGAGATGCCTCCCCTCCCTCCCTGCCCCCAGGAGTGGTTCACCGTCTTGGAGCATTACCGC
387907277	45758	NM_005270.4(GLI2):c.1885G>A (p.Glu629Lys)	GLI2	Jan 01, 2012	MedGen:C1835819,OMIM:610829	Holoprosencephaly 9	germline	2	120984672	GGCACGGAGCCTGGCGGCCCAGAGAGCACCGAGGCCAGCAGCACCAGCCAGGCCGTGGAGG
387906369	22216	NM_000492.3(CFTR):c.3718-1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117642437	CAGAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGG
-1	485824	NM_004006.2(DMD):c.7310-1G>A	DMD	Apr 11, 2014	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	31774193	TTCCTTTTTGCAAAAACCCAAAATATTTTAGCTCCTACTCAGACTGTTACTCTGGTGACAC
121908883	21496	NM_000369.2(TSHR):c.1291G>A (p.Gly431Ser)	TSHR	Sep 01, 2001	MedGen:C1836706,OMIM:609152,Orphanet:ORPHA424	Hyperthyroidism, nonautoimmune	germline	14	81143349	GTGTGGTTCGTTAGTCTGCTGGCTCTCCTGGGCAATGTCTTTGTCCTGCTTATTCTCCTCA
587779914	133015	NM_000179.2(MSH6):c.1241G>A (p.Trp414Ter)	MSH6	Jun 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided;not specified	germline	2	47799224	ATTCTTGTACTCCTGGGATGAGGAAGTGGTGGCAGATTAAGTCTCAGAACTTTGATCTTGT
72653750	426823	NM_001171.5(ABCC6):c.3971G>A (p.Trp1324Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154943	GGCTCCAGGAGGCAGCTGAGGGTGGGATCTGGATCGACGGGGTCCCCATTGCCCACGTGGG
80356857	69798	NM_007294.3(BRCA1):c.4185G>A (p.Gln1395=)	BRCA1	Feb 19, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43090944	ATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCG
1131690818	420603	NM_004360.4(CDH1):c.1711+5G>A	CDH1	Sep 28, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68819430	AGCCCTAATCATAGCTACAGACAATGGTAAGGGGGCCTCATCTGAGCCTTTGCTGCCTCGA
137853204	33305	NM_000476.2(AK1):c.118G>A (p.Gly40Arg)	AK1	Jul 01, 2003	MedGen:C2675459,OMIM:612631,Orphanet:ORPHA86817	Adenylate kinase deficiency, hemolytic anemia due to	germline	9	127872779	CAGAAGTATGGCTACACCCACCTCTCCACCGGGGACCTCCTGCGGTCCGAGGTCAGCTCAG
137853341	23925	NM_000193.3(SHH):c.1147G>A (p.Ala383Thr)	SHH	Aug 29, 2013	MedGen:C1840529,OMIM:142945	Holoprosencephaly 3	germline	7	155803142	GCGCACCGGGCCTTCGCGCCCTTCCGCCTGGCGCACGCGCTCCTGGCTGCACTGGCGCCCG
-1	427235	NM_000038.5(APC):c.220+1G>A	APC	Feb 05, 2014	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112766411	GACAGATTGATTTATTAGAGCGTCTTAAAGGTAGATTTTAAAAAGGTGTTTTAAAATAATT
886043129	269765	NM_000833.4(GRIN2A):c.3813G>A (p.Trp1271Ter)	GRIN2A	Jan 27, 2016	MedGen:C1832814,OMIM:245570	Epilepsy, focal, with speech disorder and with or without mental retardation	germline	16	9763731	CACCGGGGAGCAGGTCTACCAGCAGGACTGGGCACAGAACAATGCCCTTCAATTACAAAAG
137852520	25029	NM_000425.4(L1CAM):c.1354G>A (p.Gly452Arg)	L1CAM	Oct 16, 2017	MedGen:CN221283;MedGen:C0265216,OMIM:307000,Orphanet:ORPHA2182,SNOMED CT:71779008;MedGen:CN517202	Hydrocephalus due to aqueductal stenosis;X-linked hydrocephalus syndrome;not provided	germline	X	153868866	AGCACTGCCTACCTTCTGTGCAAGGCCTTCGGAGCGCCTGTGCCCAGTGTTCAGTGGTGAG
45517386	58630	NM_000548.4(TSC2):c.4989+1G>A	TSC2	Nov 18, 2013	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2086872	GGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCC
387906944	39547	NM_021734.4(SLC25A19):c.373G>A (p.Gly125Ser)	SLC25A19	Sep 01, 2009	MedGen:C3150973,OMIM:613710,Orphanet:ORPHA217396	Striatal necrosis, bilateral, and progressive polyneuropathy	germline	17	75283509	GCCCGGGAATTCTCAGTGCACTTTGTATGTGGTGGCCTGGCTGCCTGTATGGCCACCCTCA
1131691096	467579	NM_000267.3(NF1):c.1721+1G>A	NF1	Jun 27, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31221930	TGCTCCTGTAGAAACATTTTGGGAGATTAGGTATATGTACTTTTATTTTTTAAATTCAACT
267606683	206626	NM_033409.3(SLC52A3):c.211G>A (p.Glu71Lys)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	765564	CTCCATCACTTCCGGCCCAGCTGCCTTTCCGAAGTGCCCATCATCTTCACCCTGCTGGGCG
121912591	17470	NM_153006.2(NAGS):c.835G>A (p.Ala279Thr)	NAGS	Aug 01, 2007	MedGen:C0268543,OMIM:237310,Orphanet:ORPHA927,SNOMED CT:57119000	Hyperammonemia, type III	germline	17	44006157	TCCGTGCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCCCACCA
869312900	226712	NM_138701.3(MPLKIP):c.339+1G>A	MPLKIP	Feb 01, 2016	MedGen:C1961117,OMIM:234050	Trichothiodystrophy, nonphotosensitive 1	germline	7	40134228	TCCCCAGGGCAGCAGCAGACCCACCCCCAGGTAATAATAATAGCCAGCGTTTGCCGAGCTC
121912424	29841	NM_001039933.2(CD79B):c.412G>A (p.Gly138Ser)	CD79B	Aug 15, 2007	MedGen:C3150207,OMIM:612692	Agammaglobulinemia 6, autosomal recessive	germline	17	63930095	AACAACACCTCGGAGGTCTACCAGGGCTGCGGCACAGAGCTGCGAGTCATGGGTGTGTGCC
587779523	106968	NM_000090.3(COL3A1):c.1501G>A (p.Gly501Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188995091	CGAGGACCTGCTGGACCAAATGGCATCCCAGGAGAAAAGGTAGATAACTTTAGTTTCTATG
762905361	247364	NM_005120.2(MED12):c.2444G>A (p.Arg815Gln)	MED12	Aug 11, 2016	MedGen:C0220769,OMIM:305450,SNOMED CT:49984004	FG syndrome	germline	X	71126057	TCCCCTCAGGTGGGGAGGATGGGCAGAAGCGGCGACGCAACCGGCCTGAAGCCTTCCCCAC
1060501712	397848	NM_000051.3(ATM):c.6272G>A (p.Trp2091Ter)	ATM	Jul 27, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108317446	TAAAAGGATTGGATTATGAAAATAAAGACTGGTGTCCTGAACTAGAAGAACTTCATTACCA
121912610	17029	NM_144966.5(FREM1):c.4318G>A (p.Gly1440Ser)	FREM1	Sep 01, 2009	MedGen:C2750433,OMIM:608980,Orphanet:ORPHA217266;MedGen:CN517202	Bifid nose with or without anorectal and renal anomalies;not provided	germline	9	14784494	CTCTATGTCATCACCTCCCCTCCGCGATATGGCCAGATCGAATATGTTCACTATCCTGGAG
10250779	15457	NM_000290.3(PGAM2):c.233G>A (p.Trp78Ter)	PGAM2	Feb 15, 2017	MedGen:C0268149,OMIM:261670,Orphanet:ORPHA97234,SNOMED CT:37666005;MedGen:CN517202	Glycogen storage disease type X;not provided	germline	7	44065297	GGGCCATCCTGGACGGCACGGACCAGATGTGGCTGCCTGTGGTGCGCACTTGGCGCCTCAA
104886251	36007	NM_000495.4(COL4A5):c.3659G>A (p.Gly1220Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668373	CTGGGATTCCAGGAAATCCTGGCCTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTT
796051875	39834	NM_020223.3(FAM20C):c.796G>A (p.Gly266Arg)	FAM20C	Mar 01, 2009	MedGen:C1850106,OMIM:259775,Orphanet:ORPHA1832	Raine syndrome	germline	7	208909	CTCTCCCTCCTTCCTGCAGCCATGAAGTCGGGGGGCACGCAGCTGAAGCTCATCATGACCT
116840822	33937	NM_000166.5(GJB1):c.536G>A (p.Cys179Tyr)	GJB1	Jan 21, 2016	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71224243	ACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGT
1064793444	407161	NM_001101.4(ACTB):c.629G>A (p.Arg210His)	ACTB	Feb 22, 2017	MedGen:CN517202	not provided	germline	7	5528454	TCACCACCACGGCCGAGCGGGAAATCGTGCGTGACATTAAGGAGAAGCTGTGCTACGTCGC
81002796	66828	NM_000059.3(BRCA2):c.67+1G>A	BRCA2	Jan 18, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32316528	AAATTTTTAAGACACGCTGCAACAAAGCAGGTATTGACAAATTTTATATAACTTTATAAAT
-1	433005	NM_001127510.2(APC):c.834+1G>A	APC	Oct 20, 2016	MedGen:CN169374	not specified	germline	5	112801384	ATCAACATGGCAACTTCTGGTAATGGTCAGGTAAATAAATTATTTTATCATATTTTTTAAA
121912894	32435	NM_001844.4(COL2A1):c.952G>A (p.Gly318Arg)	COL2A1	Feb 01, 2005	MedGen:C1836081,Orphanet:ORPHA209867	Rhegmatogenous retinal detachment, autosomal dominant	germline	12	47993475	CAGGGTGAGAGTGGTTCCCCGGGTGAGAACGGATCTCCGGGCCCAATGGTAAGTATGGACA
121908581	21200	NM_152384.2(BBS5):c.214G>A (p.Gly72Ser)	BBS5	Feb 15, 2008	MedGen:C3892039,OMIM:615983	Bardet-Biedl syndrome 5	germline	2	169487811	TACATTCTTTGCTTTTGGATTTTAGCTGTCGGTTACAATTGCATATTGAATATTACAACAA
121908716	16996	NM_000022.3(ADA):c.632G>A (p.Arg211His)	ADA	Jun 30, 2016	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44623053	TCCAGGAGGCTGTGAAGAGCGGCATTCACCGTACTGTCCACGCCGGGGAGGTGGGCTCGGC
121964966	15161	NM_000071.2(CBS):c.430G>A (p.Glu144Lys)	CBS	Apr 13, 2017	MedGen:C3150344,OMIM:236200;MedGen:CN068394	Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive	germline;unknown	21	43066264	GGGACGCTGAAGCCCGGGGACACGATTATCGAGCCGACATCCGGGAACACCGGTGGGTGCC
66721653	414016	NM_000088.3(COL1A1):c.1057G>A (p.Gly353Ser)	COL1A1	-	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	paternal	17	50195665	GCTTCTGATATGTCCTTTCTTCTGATTCAGGGTGAAGCTGGTCCCCAAGGGCCCCGAGGCT
782269909	70550	NM_007259.4(VPS45):c.712G>A (p.Glu238Lys)	VPS45	Jul 04, 2013	MedGen:C3809031,OMIM:615285,Orphanet:ORPHA369852	Severe congenital neutropenia 5, autosomal recessive	germline	1	150081366	ATTTAGTGGACATATCAGGCCATGGTCCACGAACTACTAGGCATAAACAACAATCGGATTG
397507340	46478	NM_000059.3(BRCA2):c.476-1G>A	BRCA2	Jul 22, 2009	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32326241	CTTAACAATTTTCCCCTTTTTTTACCCCCAGTGGTATGTGGGAGTTTGTTTCATACACCAA
981049067	420735	NM_003001.3(SDHC):c.387G>A (p.Trp129Ter)	SDHC	Dec 02, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	161356822	ACTTGTCTTCCCTCTCATGTATCATACCTGGAATGGGATCCGACACTTGGTAAGTTAATTC
776679653	362182	NM_030940.3(ISCA1):c.259G>A (p.Glu87Lys)	ISCA1	Aug 10, 2017	MedGen:CN388855,OMIM:617613;MedGen:CN234684	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5;Multiple mitochondrial dysfunctions syndrome	germline	9	86266174	TCTTTTCTCCAAGGAGTCAGAGTATTCATCGAAAAGAAAGCACAGCTAACACTTTTAGGAA
121909522	33331	NM_001100.3(ACTA1):c.493G>A (p.Val165Met)	ACTA1	Dec 01, 2007	MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904	Nemaline myopathy 3	germline	1	229432393	CTGGACTCCGGCGACGGCGTCACCCACAACGTGCCCATTTATGAGGGCTACGCGCTGCCGC
104893648	28933	NM_005378.5(MYCN):c.1181G>A (p.Arg394His)	MYCN	May 01, 2005	MedGen:C0796068,OMIM:164280	Feingold syndrome 1	germline	2	15945883	GAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCACGCT
587777461	143132	NM_001128845.1(SMARCA4):c.4071+1G>A	SMARCA4	May 01, 2014	MedGen:C2750074,OMIM:613325	Rhabdoid tumor predisposition syndrome 2	unknown	19	11035133	GACTCACTGACGGAGAAGCAGTGGCTCAAGGTACATGCTGGAGAGGCCCAGCAGCTGCCGC
398123040	75075	NM_002246.2(KCNK3):c.289G>A (p.Gly97Arg)	KCNK3	Jul 25, 2013	MedGen:C3809198,OMIM:615344	Primary pulmonary hypertension 4	germline	2	26727672	TCTCCTCTTTCCCACTTTCCCCCAGGCTACGGGCACGCGGCACCCAGCACGGATGGCGGCA
121908606	21151	NM_004531.4(MOCS2):c.3G>A (p.Met1Ile)	MOCS2	Mar 01, 1999	MedGen:C1854989,OMIM:252160,Orphanet:ORPHA308393	Molybdenum cofactor deficiency, complementation group B	germline	5	53107172	CAGATAATATTTGCTGTTCGTCAAGAATATGTCGAGCTTGGAGATCAGCTCCTCGTGCTTC
80338831	29121	NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn)	MYH9	Dec 29, 2016	MedGen:C0403445,OMIM:153640,SNOMED CT:236422008;MedGen:CN073381,Orphanet:ORPHA182050;MedGen:C1834478,OMIM:600208;MedGen:C0340978,OMIM:155100;MedGen:C1854520,OMIM:605249	Fechtner syndrome;MYH9 related disorders;Macrothrombocytopenia and progressive sensorineural deafness;May-Hegglin anomaly;Sebastian syndrome	germline	22	36292060	ACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGACCTGGACCACCAGCGCC
121909566	33072	NM_000488.3(SERPINC1):c.1271G>A (p.Gly424Asp)	SERPINC1	Nov 01, 1992	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173904013	CAGCTGCAAGTACCGCTGTTGTGATTGCTGGCCGTTCGCTAAACCCCAACAGGGTGACTTT
200652608	39459	NM_030928.3(CDT1):c.1402G>A (p.Glu468Lys)	CDT1	Feb 27, 2011	MedGen:C3151120,OMIM:613804	Meier-Gorlin syndrome 4	germline	16	88807407	GCCCGCGTGCTGCGGAGCGTCTTTGTGTCCGAACGCAAGCCTGCGCTCAGCATGGAGGTGG
556880586	171723	NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn)	CFTR	Oct 01, 2013	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	unknown	7	117542016	TAATATGTTTTTGCTCTCTTTTATAAATAGGATTTCTTACAAAAGCAAGAATATAAGACAT
28937318	24429	NM_198056.2(SCN5A):c.1100G>A (p.Arg367His)	SCN5A	Jun 28, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144	Brugada syndrome;Brugada syndrome 1	germline;unknown	3	38606709	CCTTTGCCTGGGCCTTTCTTGCACTCTTCCGCCTGATGACGCAGGACTGCTGGGAGCGCCT
786205072	19580	NM_032667.6(BSCL2):c.671+5G>A	BSCL2	Dec 08, 2016	MedGen:C1720863,OMIM:269700	Congenital generalized lipodystrophy type 2	germline	11	62692371	ATCCACGCGCACTTCACTGGGCTCAGGTGAGGGGCCAACTGGAGTGAACCTTGGGCAACTC
397515439	50320	NM_032801.4(JAM3):c.346G>A (p.Glu116Lys)	JAM3	Mar 01, 2013	MedGen:C3151000,OMIM:613730,Orphanet:ORPHA306547	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	germline	11	134144330	ACACGGAGAGACTCAGCCCTTTATCGCTGTGAGGTCGTTGCTCGAAATGACCGCAAGGAAA
61752068	24935	NM_000330.3(RS1):c.305G>A (p.Arg102Gln)	RS1	Nov 18, 2016	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;MedGen:CN517202	Juvenile retinoschisis;not provided	germline;unknown	X	18647212	GGTATTCTTCGTGGACTGCAAACAAGGCCCGGCTCAACAGTCAAGGCTTTGGGTAAGCAGG
137852988	20007	NM_022437.2(ABCG8):c.1720G>A (p.Gly574Arg)	ABCG8	Jun 14, 2016	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43875377	AATGCCCTCTACAACTCCTTCTACCTCGCCGGGGGCTTCATGATAAACTTGAGCAGCCTGT
886042943	269005	NM_001849.3(COL6A2):c.785G>A (p.Gly262Asp)	COL6A2	Dec 27, 2015	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	46114057	TGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGA
886039653	260127	NM_016373.3(WWOX):c.410-1G>A	WWOX	Jun 21, 2016	MedGen:CN517202	not provided	germline	16	78164182	TTTCTAACATTGACTTTCCTTTAAACCATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCC
397515608	76719	NM_194248.2(OTOF):c.5567G>A (p.Arg1856Gln)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26460997	CCATCGAGCTGGACCTGAACCGGTTCCCGCGGGGCGCAAAGACAGCCAAGCAGTGCACCAT
200196781	151161	NM_000051.3(ATM):c.3993+1G>A	ATM	Jul 20, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108284474	CTTAAAAGTGAAAACTTATTGGGAAAACAGGTATGGCTTCAATTTTTATGTACTTTTCATT
876658483	236511	NM_000546.5(TP53):c.158G>A (p.Trp53Ter)	TP53	Feb 03, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	7676211	TGATGCTGTCCCCGGACGATATTGAACAATGGTTCACTGAAGACCCAGGTCCAGATGAAGC
121909733	31163	NM_005271.4(GLUD1):c.1495G>A (p.Gly499Ser)	GLUD1	May 07, 1998	MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878	Hyperinsulinism-hyperammonemia syndrome	germline	10	87053404	TTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTG
72551313	19303	NM_000784.3(CYP27A1):c.434G>A (p.Gly145Glu)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	germline	2	218809755	AGCACCGGGACCAGCACGACCTGACCTATGGGCCGTTCACCACGTGAGCTGGGGCCTGAAG
879254536	245577	NM_000527.4(LDLR):c.464G>A (p.Cys155Tyr)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105370	TGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTG
104886236	35978	NM_000495.4(COL4A5):c.3499G>A (p.Gly1167Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108666540	CCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGAC
398122955	94560	NM_024582.4(FAT4):c.7123G>A (p.Glu2375Lys)	FAT4	Apr 26, 2017	MedGen:C4014939,OMIM:616006;MedGen:C3809875,OMIM:615546	Hennekam lymphangiectasia-lymphedema syndrome 2;Van Maldergem syndrome 2	not provided	4	125434349	GCCAGTAAAGCGTATTTCACAACAATTCCTGAGGATGCACCAACTGGAACAGATGTTTTAT
786203847	183017	NM_000314.6(PTEN):c.165-1G>A	PTEN	Dec 25, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87925512	GTGGCTTTTTGTTTGTTTGTTTTGTTTTAAGGTTTTTGGATTCAAAGCATAAAAACCATTA
752169833	215640	NM_001320327.1(CHCHD2):c.434G>A (p.Arg145Gln)	CHCHD2	Jul 01, 2015	MedGen:C4225238,OMIM:616710	Parkinson disease 22, autosomal dominant	germline	7	56102878	AGGGTTTCAATGAGGTGCTGAAACAGTGCCGACTTGCAAACGGTAGGTAATTTGTCCAATT
80356618	34049	NM_000525.3(KCNJ11):c.497G>A (p.Cys166Tyr)	KCNJ11	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17387595	GGCTCATGATCAACGCCATCATGCTTGGCTGCATCTTCATGAAGACTGCCCAAGCCCACCG
749205120	407314	NM_004519.3(KCNQ3):c.689G>A (p.Arg230His)	KCNQ3	Jun 26, 2017	MedGen:CN517202	not provided	germline	8	132180245	ATGTTCTGGCCACCTCCCTGCGAAGCCTGCGCTTCCTGCAGATCCTGCGCATGCTGCGGAT
142929172	446124	NM_000540.2(RYR1):c.14129+1G>A	RYR1	Dec 17, 2015	MedGen:CN517202	not provided	germline	19	38573308	GCAGTGGGACCGACTGGTGCTCAACACGCCGTAAGGACCCAGCCCCCACCTCAGGGTGGCA
864622056	221070	NM_017617.4(NOTCH1):c.1343G>A (p.Arg448Gln)	NOTCH1	Feb 24, 2015	MedGen:C4014970,OMIM:616028	Adams-Oliver syndrome 5	de novo;germline	9	136517850	GCCAGTGTCTGCAGGGCTACACGGGCCCCCGATGCGAGATCGACGTCAACGAGTGCGTCTC
1085307477	415117	NM_000089.3(COL1A2):c.2673+1G>A	COL1A2	Apr 28, 2017	MedGen:CN517202	not provided	germline	7	94424444	CGTGGTCTACCAGGTGTTGCTGGTGCTGTGGTGAGTGCTTGACAGTATTCTGACTCCATTA
587783768	170039	NM_000252.2(MTM1):c.1260+1G>A	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150658028	TGGATAAGTTTTGGACATAAATTTGCATCTGTGAGTAAACAAAGCTAATTTCTAAAAATAG
281865464	47882	NM_213599.2(ANO5):c.1407+5G>A	ANO5	Nov 29, 2012	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549	Limb-girdle muscular dystrophy, type 2L	not provided	11	22257759	TTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTC
398124589	102495	NM_000056.4(BCKDHB):c.633+1G>A	BCKDHB	Aug 23, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	6	80169031	GCATTTTTTGCCCATTGCCCAGGAATCAAGGTATGTTCATTTATGTACTTTATTTGATTTC
267607000	26683	NM_005676.4(RBM10):c.1235G>A (p.Trp412Ter)	RBM10	May 14, 2010	MedGen:C1839463,OMIM:311900,Orphanet:ORPHA2886	TARP syndrome	germline	X	47180493	TGGCCAGCACTGCCATTGCTGCGGCCCAGTGGGCCATCTCACAGGTACTCAGACCCCTTGT
386134164	51330	NM_002739.4(PRKCG):c.367G>A (p.Gly123Arg)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	not provided	19	53889719	TTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCT
72551362	23176	NM_138712.3(PPARG):c.868G>A (p.Val290Met)	PPARG	Apr 01, 2003	MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083	Familial partial lipodystrophy 3	germline	3	12416836	CGCATCTTTCAGGGCTGCCAGTTTCGCTCCGTGGAGGCTGTGCAGGAGATCACAGAGTATG
864309527	215090	NM_171998.3(RAB39B):c.574G>A (p.Gly192Arg)	RAB39B	Sep 24, 2015	MedGen:C0796195,OMIM:311510,Orphanet:ORPHA2379;MedGen:CN234611	Parkinsonism, early onset with mental retardation;X-linked dominant Parkinson's disease	germline	X	155260871	ATCCAGGAGGGCTGGGAAGGGGTGAAGAGTGGATTTGTACCAAATGTGGTTCACTCTTCAG
1057520515	374902	NM_000430.3(PAFAH1B1):c.1159+1G>A	PAFAH1B1	Sep 21, 2016	MedGen:C1843916,OMIM:607432;MedGen:CN517202	Lissencephaly 1;not provided	germline	17	2680321	ATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATT
876661405	236870	NM_001039213.3(CEACAM16):c.505G>A (p.Gly169Arg)	CEACAM16	Jun 01, 2016	MedGen:C3281297,OMIM:614614	Deafness, autosomal dominant 4b	germline	19	44704140	ACCGCCGAGGTCCGCTGGTTCTTCAACGGTGGGGCCCTGCCCGTCGCTCTCCGCCTGGGCC
199476122	24772	m.3697G>A	MT-ND1	Sep 19, 2013	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003;MedGen:C1839040,OMIM:500001;Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Leber hereditary optic neuropathy with dystonia;Leber's optic atrophy	germline	MT	3697	TGAGCATCAAACTCAAACTACGCCCTGATCGGCGCACTGCGAGCAGTAGCCCAAACAATCT
1085307356	414311	NM_001204.6(BMPR2):c.1453G>A (p.Asp485Asn)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202552755	TCACTCAAGGAGACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGCAC
120074186	67792	NM_000218.2(KCNQ1):c.914G>A (p.Trp305Ter)	KCNQ1	Apr 06, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	11	2572979	AGTTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCAT
398122937	65608	NM_021954.3(GJA3):c.427G>A (p.Gly143Arg)	GJA3	Jan 01, 2012	MedGen:C1866078,OMIM:601885	Zonular pulverulent cataract 3	germline	13	20142862	CGGGACGACCGCGGCAGGGTGCGCATGGCCGGGGCGCTGCTGCGGACCTACGTCTTCAACA
879254526	245563	NM_000527.4(LDLR):c.443G>A (p.Cys148Tyr)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105349	CAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTC
773734233	210429	NM_000071.2(CBS):c.700G>A (p.Asp234Asn)	CBS	Nov 10, 2016	Human Phenotype Ontology:HP:0002156,MedGen:C0019880;MedGen:CN517202	Homocystinuria;not provided	germline	21	43065239	CGCAACGCCAGCAACCCCCTGGCTCACTACGACACCACCGCTGATGAGATCCTGCAGCAGT
397515518	76485	NM_000187.3(HGD):c.342+1G>A	HGD	Mar 09, 2016	MedGen:C0002066,OMIM:203500,Orphanet:ORPHA56	Alkaptonuria	unknown	3	120652591	GCATCTCAGAAGAAAGTAGACTTTGTGAGTGTAAGTCAGTCCCATCCACACCCTCCCTACT
398122892	48054	NM_001111.4(ADAR):c.2675G>A (p.Arg892His)	ADAR	Jun 27, 2013	MedGen:C3539013,OMIM:615010	Aicardi-goutieres syndrome 6	germline	1	154589456	TTTCTGTTTTAAACACCTTCCTAGGGAATCGCTGTGTGAAAGGAGATTCTCTCAGCCTAAA
564069299	200114	NM_000255.3(MUT):c.1106G>A (p.Arg369His)	MUT	Apr 21, 2017	MedGen:C1855114,OMIM:251000;MedGen:CN517202	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	germline	6	49451692	TATTTTAGGATCCCTACAATAATATTGTCCGTACTGCAATAGAAGCAATGGCAGCAGTATT
63751657	95331	NM_000249.3(MLH1):c.1731G>A (p.Ser577=)	MLH1	May 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	3	37042331	TTTTGCCAATTTTGGTGTTCTCAGGTTATCGGTAAGTTTAGATCCTTTTCACTTCTGAAAT
587776855	32985	NM_000416.2(IFNGR1):c.200+1G>A	IFNGR1	Mar 01, 1998	MedGen:C0694566,OMIM:209950,SNOMED CT:240413000	Disseminated atypical mycobacterial infection	germline	6	137206962	TGTTTTTACCGTAGAGGTAAAGAACTATGGGTGAGTGTCACTCTTTTATTTATCCTTTTTA
587779798	132762	NM_000038.5(APC):c.531+5G>A	APC	Dec 06, 2016	MedGen:CN517202	not provided	germline	5	112775742	TAGATAGTCTTCCTTTAACTGAAAATGTAAGTAACTTGGCAGTACAACTTATTTGAAACTT
886044725	237699	NM_000350.2(ABCA4):c.1293G>A (p.Trp431Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline	1	94078653	GGAACACGTTAGGAAGTTGGTCAAAGCCTGGGAAGAAGTAGGGCCCCAGATCTGGTACTTC
104894513	17297	NM_000101.3(CYBA):c.269G>A (p.Arg90Gln)	CYBA	Nov 01, 1992	MedGen:C1856255,OMIM:233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	16	88646773	TCGGGCCCTTTACCAGGAATTACTATGTTCGGGCCGTCCTGCATCTCCTGTGAGTCCCCGT
587777003	70536	NM_001258221.1(KCTD1):c.185G>A (p.Gly62Asp)	KCTD1	Jan 29, 2014	MedGen:C1867020,OMIM:181270,Orphanet:ORPHA2036	Scalp ear nipple syndrome	germline;unknown	18	26476639	TCTATCACAGAATCGGAAGACTTTTTGATGGTACAGAGCCCATTGTTTTGGACAGTCTCAA
-1	417150	NM_019098.4(CNGB3):c.3G>A (p.Met1Ile)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	unknown	8	86743625	GAGGGTTTTCAGAACCACCTCAGAGAAGATGTTTAAATCGCTGACAAAAGTCAACAAGGTG
199472800	67671	NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His)	KCNQ1	Jan 09, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2776033	ACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACG
118204063	16571	NM_000237.2(LPL):c.506G>A (p.Gly169Glu)	LPL	Jan 26, 1996	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19953386	GCCTTGGAGCCCATGCTGCTGGCATTGCAGGAAGTCTGACCAATAAGAAAGTCAACAGAAT
121918019	28722	NM_000478.5(ALPL):c.526G>A (p.Ala176Thr)	ALPL	Jan 02, 2014	MedGen:C0220743,OMIM:241510,SNOMED CT:30174008;Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Childhood hypophosphatasia;Infantile hypophosphatasia	germline;unknown	1	21564094	ACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACT
-1	439996	NM_015331.2(NCSTN):c.1101+1G>A	NCSTN	Dec 01, 2017	MedGen:CN028850,OMIM:142690	Familial acne inversa 1	germline	1	160352992	AATGTTGACTCATTTGTGGAGCTGGGACAGGTATGTGGCATGTCCCCCAGCCCCTTCCTTT
376281345	487060	NM_002495.3(NDUFS4):c.99-1G>A	NDUFS4	Feb 12, 2016	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	5	53603451	TCCTTTTTTAACTTAAAGTCTTGCACTGCAGGTCGTTGAGGACTTCCACATGGAGATTGGC
281874723	35607	NM_000495.4(COL4A5):c.386G>A (p.Gly129Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108571414	CCATGCTCTTTATTTTTAACTCCTTCTAGGGAGAACGTGGATTTCCAGGCAGTCCCGGTTT
60458016	29564	NM_170707.3(LMNA):c.1072G>A (p.Glu358Lys)	LMNA	May 16, 2017	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:CN043576;MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973;MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264;MedGen:C0432291,OMIM:248370,Orphanet:ORPHA2457,SNOMED CT:109419009;MeSH:D009136,MedGen:C0026850,Orphanet:ORPHA98473;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Charcot-Marie-Tooth disease, type 2;Congenital muscular dystrophy, LMNA-related;Dilated cardiomyopathy 1A;Familial partial lipodystrophy 2;Limb-girdle muscular dystrophy, type 1B;Mandibuloacral dysostosis;Muscular dystrophy;not provided	germline	1	156136036	ATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGG
199422294	38854	NM_198253.2(TERT):c.1892G>A (p.Arg631Gln)	TERT	May 10, 2012	MedGen:C3151443,OMIM:613989;MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	germline	5	1280216	TCCGCTTCATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTCGTGGG
137853187	15584	NM_001145308.4(LRTOMT):c.328G>A (p.Glu110Lys)	LRTOMT	Nov 01, 2008	MedGen:C1969621,OMIM:611451	Deafness, autosomal recessive 63	germline	11	72106180	ACCACCCTGGACCACTGGAGCAGCCGCTGCGAGTACTTGAGCCACATGGGGCCTGTCAAAG
121913500	166215	NM_001282386.1(IDH1):c.395G>A (p.Arg132His)	IDH1	May 31, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MeSH:D003528,MedGen:C0010606;Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C4016231;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MeSH:D009837,MedGen:C0028945,SNOMED CT:443936004;Human Phenotype Ontology:HP:0006740,MedGen:C0279680	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenoid cystic carcinoma;Astrocytoma;Brainstem glioma;Colorectal Neoplasms;Glioblastoma;Glioblastoma multiforme, somatic;Hepatocellular carcinoma;Malignant melanoma of skin;Medulloblastoma;Multiple myeloma;Myelodysplastic syndrome;Neoplasm of brain;Neoplasm of the breast;Oligodendroglioma;Transitional cell carcinoma of the bladder	somatic	2	208248388	GTGGATGGGTAAAACCTATCATCATAGGTCGTCATGCTTATGGGGATCAAGTAAGTCATGT
990043411	359221	NM_000433.3(NCF2):c.257+1G>A	NCF2	Jun 29, 2015	MedGen:CN517202	not provided	germline	1	183586894	ACGAGGGATGCTCTACTACCAGACAGAGAAGTAAGTGGTTCAATGTTGCACCAACTGGAGG
672601324	26095	NM_000252.2(MTM1):c.679-1G>A	MTM1	Jan 01, 1998	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150645682	TGATAGCTTAAACTTTCTGACTTAACCATAGGTGCTGTCATGGATTCATCCAGAAAATAAG
386834035	19038	NM_017739.3(POMGNT1):c.652+1G>A	POMGNT1	Nov 01, 2008	MedGen:C3150412,OMIM:613151;MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Muscle eye brain disease	germline	1	46194843	ACACATGGGCCTTCGTGGGACGAAAAGGAGGTGCCGGCATCAGAGGCCATCCACTCTGTAG
878853691	391147	NM_000143.3(FH):c.267+1G>A	FH	Jun 16, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002	Fumarase deficiency	germline	1	241517181	AAGATTGGAGGTGTGACAGAACGCATGCCAGTAAGTGGCATTTGTGGAAATGTTGGCTATT
1064796632	410982	NM_000268.3(NF2):c.517-1G>A	NF2	Feb 21, 2017	MedGen:CN517202	not provided	germline	22	29655593	AGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAA
104894121	22351	NM_004560.3(ROR2):c.2247G>A (p.Trp749Ter)	ROR2	Sep 01, 2003	Human Phenotype Ontology:HP:0005831,MedGen:C1862112,OMIM:113000	Brachydactyly type B1	germline	9	91724247	CAAGGACATCCACAGCCGGCTCCGAGCCTGGGGCAACCTTTCCAACTACAACAGCTCGGCG
121434277	18630	NM_000016.5(ACADM):c.447G>A (p.Met149Ile)	ACADM	Jun 13, 2014	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75734850	TCAACAAAAGAAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTGTGTGAGTATG
587776539	17434	NM_000045.3(ARG1):c.57+1G>A	ARG1	Sep 01, 1995	MedGen:C0268548,OMIM:207800,Orphanet:ORPHA90,SNOMED CT:23501004	Arginase deficiency	germline	6	131573340	ATTATTGGAGCTCCTTTCTCAAAGGGACAGGTAAGGAAAAAAGTCTTTCTTTGAATTCCTG
-1	442160	NM_000435.2(NOTCH3):c.602G>A (p.Cys201Tyr)	NOTCH3	Oct 12, 2015	MedGen:CN517202	not provided	germline	19	15192037	GGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCACCCTCACCATGCCGTAACGGGGGCAC
879254420	245395	NM_000527.4(LDLR):c.169G>A (p.Asp57Asn)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100324	GATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCC
-1	434352	NM_000527.4(LDLR):c.2530G>A (p.Gly844Ser)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11129653	GATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTC
397515330	76388	NM_001098512.2(PRKG1):c.530G>A (p.Arg177Gln)	PRKG1	May 17, 2017	MedGen:C3809513,OMIM:615436;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Aortic aneurysm, familial thoracic 8;Thoracic aortic aneurysm and aortic dissection;not provided	germline	10	51467819	GGGAATTGGCTATTCTTTACAACTGTACCCGGACAGCGACCGTCAAGAGTAAGACTATTTT
587782539	152265	NM_032043.2(BRIP1):c.2576-1G>A	BRIP1	Apr 17, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61686166	AAATTTTCCCTGGGTTTACCTTTTTCTTTAGGACTTTCTAAATGGGTACGGCAGCAGATTC
104894623	23482	NM_000304.3(PMP22):c.199G>A (p.Ala67Thr)	PMP22	Jun 10, 2003	MedGen:C0393814,OMIM:162500,Orphanet:ORPHA640,SNOMED CT:230558006	Hereditary liability to pressure palsies	germline	17	15239591	TTTCCCCCAGAATGGCTGCAGTCTGTCCAGGCCACCATGATCCTGTCGATCATCTTCAGCA
62638208	20885	NM_000843.3(GRM6):c.1565G>A (p.Cys522Tyr)	GRM6	Nov 01, 2005	MedGen:C1850362,OMIM:257270;MedGen:CN517202	Congenital stationary night blindness, type 1B;not provided	germline	5	178986689	AGGTGCCCTCGTCTCTGTGCAGCCTGCCCTGCGGGCCGGGGGAGCGGAAGAAGATGGTGAA
-1	481861	NM_000197.1(HSD17B3):c.202-1G>A	HSD17B3	Nov 13, 2017	MedGen:CN517202	not provided	germline	9	96254944	TTGTCTCTTGGTTTTTCACTCCCACTCTCAGCTAGCAAAACGTGGACTCAATGTTGTCCTT
796051858	18086	NM_000051.3(ATM):c.496+5G>A	ATM	Jul 06, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C1876175,Orphanet:ORPHA370109;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Ataxia-telangiectasia variant;Hereditary cancer-predisposing syndrome;not provided	germline	11	108235839	TGAAATATCTCAGCAACAGTGGTTAGGTATGTTTTGAAGGTTGTTGTTTGTGAATTTTTCC
879254754	245919	NM_000527.4(LDLR):c.1013G>A (p.Cys338Tyr)	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11110724	TCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGC
137852600	24897	NM_000044.4(AR):c.2231G>A (p.Gly744Glu)	AR	Dec 01, 2002	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67717535	AGATGGCTGTCATTCAGTACTCCTGGATGGGGCTCATGGTGTTTGCCATGGGCTGGCGATC
-1	443495	NM_002292.3(LAMB2):c.4573+1G>A	LAMB2	Aug 23, 2017	MedGen:CN517202	not provided	germline	3	49122703	TTATCCAGAGTGTGAAGGACTTCCTCAACCGTGAGCCTCCCACGTGTCCCAGGCCATGTGG
587780437	135558	NM_005045.3(RELN):c.7490+1G>A	RELN	Aug 07, 2013	MedGen:C0796089,OMIM:257320,Orphanet:ORPHA89844	Lissencephaly 2	germline	7	103523390	CCATGGGAGATGCATCCAGGGAAACTGCGTGTAAGTCGGTTTTTTTCTTCCTTCTGTTGAA
111033308	19855	NM_000441.1(SLC26A4):c.1489G>A (p.Gly497Ser)	SLC26A4	Mar 30, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN517202	Enlarged vestibular aqueduct;Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome;not provided	germline;unknown	7	107695984	ATAGTGTCCATCATTCTGGGGCTGGATCTCGGTTTACTAGCTGGCCTTATATTTGGACTGT
879255431	247114	NM_144672.3(OTOA):c.755G>A (p.Trp252Ter)	OTOA	Oct 16, 2015	MedGen:CN517202	not provided	unknown	16	21697790	CTTTATTTTTTGTAGATGACTCTGCTTCATGGGTCAGTGCGGAACACTTATGGGTTTTGGG
128621192	26401	NM_000061.2(BTK):c.755G>A (p.Trp252Ter)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101360589	TTATCTTGGAGGAAAGCAACTTACCATGGTGGAGAGCACGAGATAAAAATGGGTGAGTCCA
28936395	23573	NM_004442.7(EPHB2):c.2035G>A (p.Asp679Asn)	EPHB2	Aug 01, 2014	MedGen:C1863600,OMIM:603688	Prostate cancer/brain cancer susceptibility	somatic	1	22906853	CTGAGCGAAGCCTCCATCATGGGCCAGTTCGACCATCCCAACGTCATCCACCTGGAGGGTG
201791209	223311	NM_018297.3(NGLY1):c.931G>A (p.Glu311Lys)	NGLY1	Jan 07, 2016	MedGen:C3808991,OMIM:615273,Orphanet:ORPHA404454	Congenital disorder of deglycosylation	inherited	3	25737406	CTTTTGGAAACAAGATGTGGACGGTGTGGCGAGTGGGCCAATTGTTTTACACTGTGCTGCC
281874677	47362	NM_000495.4(COL4A5):c.1744G>A (p.Gly582Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597533	CCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAG
886037750	205413	NM_000208.3(INSR):c.394G>A (p.Gly132Ser)	INSR	-	MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001	Pineal hyperplasia AND diabetes mellitus syndrome	germline	19	7267603	ATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACCCGGG
199422117	26928	NM_001061.4(TBXAS1):c.1238G>A (p.Arg413Gln)	TBXAS1	Mar 01, 2008	MedGen:C4016444	Ghosal hematodiaphyseal syndrome	germline	7	140015731	CCCGACCTGGTGTTTCCCTCAGATTCACACGGGAGGCAGCTCAGGACTGCGAGGTGCTGGG
864622558	221554	NM_001182.4(ALDH7A1):c.986G>A (p.Arg329Lys)	ALDH7A1	Jan 06, 2016	MedGen:C1849508,OMIM:266100	Pyridoxine-dependent epilepsy	germline	5	126559262	TCTTCGCTGCTGTGGGAACAGCTGGCCAGAGGTGTACCACTGCGAGGCGACTGGTGAGTAT
-1	439898	NM_194248.2(OTOF):c.897+5G>A	OTOF	Jul 01, 2017	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	germline	2	26494937	CCACTAACTGCCCCTATTACAACGAGGTCAGTGGCCCTGTGGGGAAAGGAGCCTCTGTAAA
397507545	49029	NM_002834.4(PTPN11):c.1507G>A (p.Gly503Arg)	PTPN11	Jul 31, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	12	112489083	ACCATCCAGATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGAT
587779548	107132	NM_000090.3(COL3A1):c.2995G>A (p.Gly999Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005413	AGTGGAGAACGTGGTCCCCCTGGACCCCAGGGTCTTCCTGGTCTGGCTGGTACAGCTGGTG
121918163	16011	NM_001113378.1(FANCI):c.3854G>A (p.Arg1285Gln)	FANCI	Apr 20, 2007	MedGen:C1836861,OMIM:609053	Fanconi anemia, complementation group I	germline	15	89315319	TGATGCAGCACATGAAGCTCAGCACCTCACGAGACTTCAAGATCAAAGGAAACATCCTAGA
-1	444282	NM_006766.4(KAT6A):c.3353-1G>A	KAT6A	Nov 11, 2015	MedGen:CN517202	not provided	germline	8	41934868	CCTGTCTTTGTTTTTTTTCCTTCCTGTATAGACACTCCTATCTTAAAGCCAGTATCTCTTT
397514401	36182	NM_000060.4(BTD):c.1157G>A (p.Trp386Ter)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645013	AGGAAGTCCACTGTGATGAGGCCACCAAGTGGAACGTGAATGCTCCTCCCACATTTCACTC
121913596	447442	NM_000530.7(MPZ):c.103G>A (p.Asp35Asn)	MPZ	Jul 31, 2017	MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009	Charcot-Marie-Tooth disease, type I	germline	1	161307389	TCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCC
587783967	168436	NM_133433.3(NIPBL):c.5328+1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37020878	GCCCAGAGCTTTGATATTTATTTGACACAGGTAAACTGGATAAGAATTCCTTATACAGTGA
397514594	48391	NM_001083614.1(EARS2):c.500G>A (p.Cys167Tyr)	EARS2	Nov 20, 2012	MedGen:C3554079,OMIM:614924,Orphanet:ORPHA314051	Combined oxidative phosphorylation deficiency 12	germline	16	23535346	CTCTGCTCCCCATCAGGTATGACAATCGGTGCAGGAACATGAGCCAGGAGCAGGTGGCCCA
137852503	25119	NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp)	HPRT1	Oct 24, 2013	na;MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	HPRT TOKYO;Lesch-Nyhan syndrome	germline	X	134493524	TTCTTTTTTGAAAGGATATAATTGACACTGGCAAAACAATGCAGACTTTGCTTTCCTTGGT
794728804	196743	NM_001035.2(RYR2):c.14311G>A (p.Val4771Ile)	RYR2	Apr 27, 2017	MedGen:CN230736;MedGen:C1631597,Orphanet:ORPHA3286;MedGen:CN517202	Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not provided	germline	1	237808913	TGTCACATTGTTTTCCAGCTCGTATTAACCGTTGGCTTATTAGCTGTTGTTGTATACCTAT
191107774	99875	NM_001031847.2(CPT1A):c.281+1G>A	CPT1A	Aug 13, 2012	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline	11	68812436	TGCAAAAATCAATCGGACTCTGGAAACGGCGTAAGTAATCCTGTGAAATCTCCAATTGTCT
122468177	26442	NM_015884.3(MBTPS2):c.261G>A (p.Met87Ile)	MBTPS2	Apr 01, 2009	Gene:266959,MedGen:C1839988,OMIM:308205,Orphanet:ORPHA2273	IFAP syndrome with or without BRESHECK syndrome	germline	X	21845207	TTTTGGAATGGTGTTTGGCGTAATTGCCATGTTTAGCTCATTTTTTCTCCTTGGAAAAACG
751631278	59376	NM_025152.2(NUBPL):c.693+1G>A	NUBPL	May 02, 2013	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	14	31826715	GCTGAGATGTTTCGCAGAGTCCACGTGCCCGTAAGCGTTTACAGCTTCACTGTGAAAAATA
121913628	29131	NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys)	MYH7	Jun 16, 2017	MedGen:CN230736;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23424059	CAGCTGGAGGCCAAGGTGAAGGAGATGAACGAGAGGCTGGAGGATGAGGAGGAGATGAATG
104894281	24008	NM_203285.1(NECTIN1):c.554G>A (p.Trp185Ter)	NECTIN1	Oct 01, 2001	MedGen:C2931488,OMIM:225060,Orphanet:ORPHA3253;MedGen:C1833538	Cleft lip/palate-ectodermal dysplasia syndrome;Orofacial cleft 7	germline	11	119677734	CCAATGGGAAGCCTCCCAGTGTGGTATCCTGGGAAACTCGGTTAAAAGGTGAGGCAGAGTA
121908454	20894	NM_022336.3(EDAR):c.1124G>A (p.Arg375His)	EDAR	Oct 01, 2004	MedGen:C0406702,OMIM:224900,Orphanet:ORPHA248,SNOMED CT:27025001	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	germline	2	108897130	ACTCTGAGAAGGCTGTTGTGAAAACGTGGCGCCACCTCGCCGAGAGCTTCGGCCTGAAGAG
267607464	77476	NM_005554.3(KRT6A):c.487G>A (p.Glu163Lys)	KRT6A	Apr 19, 2016	MedGen:CN517202	not provided	germline	12	52492702	GATCCCACCATCCAGCGGGTGCGGGCTGAGGAGCGTGAACAGATCAAGACCCTCAACAACA
121434552	32648	NM_000717.4(CA4):c.206G>A (p.Arg69His)	CA4	Aug 01, 2007	MedGen:C1833245,OMIM:600852	Retinitis pigmentosa 17	germline	17	60156653	CCAAGGCAAAGGTGGACAAAAAACTGGGACGCTTCTTCTTCTCTGGCTACGATAAGAAGCA
587779539	107090	NM_000090.3(COL3A1):c.1862G>A (p.Gly621Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997382	ATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTG
965522059	433122	NM_025114.3(CEP290):c.1066-1G>A	CEP290	Mar 08, 2017	MedGen:CN169374	not specified	germline	12	88125370	GGGATATATATTGTTTTAAAATATTTTATAGGGTATACAGGAACGAGACAGTCAAATTAAG
-1	431140	NM_012160.4(FBXL4):c.1317G>A (p.Glu439=)	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98899268	ACGACTTGTTCTCTATCGAACAAAAGTAGAGGTGAGAGTAATTCATAATTTTCATCATTGC
587776961	59489	NM_001042498.2(SLC35A2):c.991G>A (p.Val331Ile)	SLC35A2	Nov 20, 2015	MedGen:C3806688,OMIM:300896,Orphanet:ORPHA356961;MedGen:CN517202	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm;not provided	de novo;germline;somatic	X	48904918	GACCCATTATTTGCCCTTGGCGCTGGACTCGTCATTGGTGCTGTCTACCTCTACAGCCTTC
864309666	215677	NM_020680.3(SCYL1):c.1230+1G>A	SCYL1	Dec 03, 2015	MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773	Spinocerebellar ataxia 21	germline	11	65532806	AACCCTGCCATCCGGGAGCAGACGGTCAAGGTGGGTGTGGCCAGGCCCAGAGTGGCTACCC
398122998	97526	NM_001271.3(CHD2):c.4971G>A (p.Trp1657Ter)	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	93020076	CTATGGTGGTGGCAACAACAATCCACCATGGGGAAGCGACAGGCACCATCAGTATGAGCAG
398122935	59366	NM_031850.3(AGTR1):c.356G>A (p.Trp119Ter)	AGTR1	Jun 14, 2016	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001	Renal dysplasia	germline	3	148741286	ACTTATGCTTTTTACTGACTTTGCCACTATGGGCTGTCTACACAGCTATGGAATACCGCTG
886042022	264367	NM_000037.3(ANK1):c.2736-1G>A	ANK1	Oct 10, 2016	MedGen:CN517202	not provided	germline	8	41696588	GAAGCCCAACGTGCATCTGCCCCACTCCTAGGTTTCTGGTGAGCTTCATGGTTGACGCCCG
876661066	232116	NM_000214.2(JAG1):c.81+1G>A	JAG1	Sep 11, 2015	MedGen:CN517202	not provided	germline	20	10673449	CTCGCCCTGCTCTGTGCCCTGCGAGCCAAGGTAGGAGCCCTTCTCCGGGCCTCCCTCCCAG
397516031	51898	NM_000256.3(MYBPC3):c.3627+1G>A	MYBPC3	Aug 22, 2016	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47332565	CTCTGCTGTGCTGTCCGGGGTAGCCCCAAGGTAGGGAACTTTAGGCGCTGGTCCAGGCCGA
886039380	259866	NM_000162.3(GCK):c.533G>A (p.Gly178Glu)	GCK	Jul 21, 2015	MedGen:CN517202	not provided	germline	7	44150015	CCAAGGGCTTCAAGGCCTCAGGAGCAGAAGGGAACAATGTCGTGGGGCTTCTGCGAGACGC
794728531	197496	NM_000218.2(KCNQ1):c.1685+1G>A	KCNQ1	Oct 24, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	11	2776055	CATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGT
104893983	17489	NM_000434.3(NEU1):c.727G>A (p.Gly243Arg)	NEU1	Jun 28, 2013	MedGen:C0268228;MedGen:CN517202	Sialidosis type I;not provided	germline	6	31860510	AGCGATGATCATGGTGCCTCCTGGCGCTACGGAAGTGGGGTCAGCGGCATCCCCTACGGTC
80359101	67273	NM_000059.3(BRCA2):c.8489G>A (p.Trp2830Ter)	BRCA2	Aug 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32370957	TTTTTGGTGTGTGTAACACATTATTACAGTGGATGGAGAAGACATCATCTGGATTATACAT
121912507	29466	NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser)	KCNH2	Feb 25, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 2;not provided	germline	7	150951511	ACCTTCAGCAGCCTCACCAGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGA
587776438	165636	NC_012920.1:m.10254G>A	MT-ND3	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	MT	10254	TTCTTAGTAGCTATTACCTTCTTATTATTTGATCTAGAAATTGCCCTCCTTTTACCCCTAC
794726798	187853	NM_001165963.1(SCN1A):c.1007G>A (p.Cys336Tyr)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166048907	TCCTGGAGGGTTTTTTAGATGCACTACTATGTGGAAATAGCTCTGATGCAGGGTAAGTCAA
80356604	34712	NM_194248.2(OTOF):c.5712+1G>A	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26460851	CGCAATGAGAACGATGAGTTTGAGCTCACGGTGCGCACCCCTTCCTGCTCGGGCAGTAGGC
1057519413	359044	NM_002875.4(RAD51):c.877G>A (p.Ala293Thr)	RAD51	Dec 09, 2016	MedGen:C4284093,OMIM:617244	Fanconi anemia, complementation group R	germline	15	40729955	CCCAAAAAACCTATTGGAGGAAATATCATCGCCCATGCATCAACAACCAGGTAAGGTGTTG
780722371	414319	NM_001204.6(BMPR2):c.1523G>A (p.W508*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202552825	AGGAAAGGATGGCTGAACTTATGATGATTTGGGAAAGAAACAAATCTGTGAGCCCAACAGT
281865063	47002	NM_139241.3(FGD4):c.1325G>A (p.Arg442His)	FGD4	Sep 13, 2012	MedGen:C1836336,OMIM:609311,Orphanet:ORPHA99954	Charcot-Marie-Tooth disease, type 4H	not provided	12	32611270	TAGCTGCTCGGAACACTTCAGCACAAGAACGCTACCTTTTCTTAGTGAGTATTATAGTGTT
387906736	38962	m.5556G>A	MT-TW	Mar 01, 2010	MedGen:C0162666,SNOMED CT:447292006	Mitochondrial encephalomyopathy	germline	MT	5556	AATACAGACCAAGAGCCTTCAAAGCCCTCAGTAAGTTGCAATACTTAATTTCTGTAACAGC
398123308	98704	NM_000297.3(PKD2):c.709+1G>A	PKD2	Dec 18, 2012	MedGen:CN517202	not provided	germline	4	88019572	ACCTCCTTTTTCTCATAGTCTTGTGCATCTGTAAGTAGAATATTTCCTTGCACTAATGGGA
34718174	30265	NM_000518.4(HBB):c.209G>A (p.Gly70Asp)	HBB	May 01, 2000	MedGen:CN169374	not specified	germline	11	5226683	AGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGA
756853742	485697	NM_000348.3(SRD5A2):c.598G>A (p.Glu200Lys)	SRD5A2	Dec 26, 2012	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31529407	TCTGGAGCCAATTTCCTCGGTGAGATCATTGAATGGATCGGCTATGCCCTGGCCACTTGGT
587777125	106518	NM_005763.3(AASS):c.194G>A (p.Arg65Gln)	AASS	Apr 09, 2013	Human Phenotype Ontology:HP:0002161,MedGen:C0268553,OMIM:238700,SNOMED CT:58558003	Hyperlysinemia	germline	7	122133533	ACAAGGTCTTGATACAGCCTTCGAATCGGCGGGCCATTCATGATAAGGTGAGTATTTCCAA
1057517651	359017	NM_006412.3(AGPAT2):c.194G>A (p.Trp65Ter)	AGPAT2	Dec 08, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136677545	ATGGTGGCCTCCCCTGCAGCATCATCGGCTGGTTCGTGCGAAGCTTCAAGTACTTTTACGG
587777172	106763	NM_194442.2(LBR):c.1748G>A (p.Arg583Gln)	LBR	Feb 27, 2014	MedGen:C1300226,OMIM:215140,SNOMED CT:389261002	Greenberg dysplasia	germline	1	225403403	TAATTTATTTCACCATGTTGCTTGTCCACCGAGAAGCTCGTGACGAGTACCACTGTAAGAA
180177355	78975	NM_017890.4(VPS13B):c.1563G>A (p.Lys521=)	VPS13B	-	MedGen:CN517202	not provided	germline	8	99135733	AGAATTTATCTTGGATTCAACTCATCATAAGGTTAGAGAATATATATTTGAACCAAATTCT
1064797092	413180	NM_016651.5(DACT1):c.1256G>A (p.Trp419Ter)	DACT1	May 02, 2017	MedGen:CN243870,OMIM:617466	Townes-Brocks syndrome 2	germline	14	58645879	ACAATGGGACATTCTCCCCACCGAAGCAGTGGTCGAAAGAATCAAAGGCCGAACAAGCCGA
573432153	359555	NM_000094.3(COL7A1):c.6262G>A (p.Gly2088Arg)	COL7A1	Sep 27, 2016	MedGen:CN517202	not provided	germline	3	48575081	CCTGGACTCCCTGGAACCCCTGGGCCCCCCGGACCCCCTGGCCCCAAGGTGATCACCCCAT
267607065	16362	NM_001174089.1(SLC4A11):c.1147G>A (p.Glu383Lys)	SLC4A11	Jul 01, 2006	MedGen:C2750450,OMIM:613268	Corneal dystrophy, Fuchs endothelial, 4	germline	20	3230954	CCCACCATCGCTTTCGGGTCTCTCAATGACGAGAACACAGACGGGGCCATCGGTGAGGGGC
1131692245	424418	NM_004646.3(NPHS1):c.2206G>A (p.Val736Met)	NPHS1	Jan 06, 2017	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	germline	19	35844109	GGCACCGCGGAAGCGCGGCTGCGGCTGGACGTGCACTGTGAGCCCCGCCCACCATGGAAAC
397515480	76971	NM_006397.2(RNASEH2A):c.69G>A (p.Val23=)	RNASEH2A	Nov 22, 2016	MedGen:C1835912,OMIM:610333	Aicardi Goutieres syndrome 4	germline	19	12806742	CTGTCGCCTGAGTTCGCCTGTGCCCGCGGTGTGCCGCAAGGAGCCTTGCGTCCTGGGCGTC
879254915	246175	NM_000527.4(LDLR):c.1470G>A (p.Trp490Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113646	TGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTT
104886043	25504	NM_000495.4(COL4A5):c.161G>A (p.Gly54Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	germline	X	108559083	TTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATT
765661521	360796	NM_000091.4(COL4A3):c.3955G>A (p.Gly1319Arg)	COL4A3	-	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919	Alport syndrome, autosomal recessive	germline	2	227303110	CCTGGATTCCAGGGGTTTCCAGGCGTGAAAGGTACTGTTTTTGTGCATTGCTCTTTATATG
534438354	150252	NM_003896.3(ST3GAL5):c.1063G>A (p.Glu355Lys)	ST3GAL5	Jan 15, 2014	MedGen:C1836824,OMIM:609056,Orphanet:ORPHA171714	Amish infantile epilepsy syndrome	germline	2	85840338	GCCGTTGTCTTAGCCACACATCTGTGCGATGAAGTCAGTTTGGCGGGTTTTGGATATGACC
150702945	200660	NM_138413.3(HOGA1):c.337G>A (p.Glu113Lys)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97598900	AACAGGCTCCTGCTAGCTGGCTCCGGATGCGAGTGTGAGCCAGAATGCCCTGGGCCCTGGG
587777558	150291	NM_018400.3(SCN3B):c.17G>A (p.Arg6Lys)	SCN3B	Mar 01, 2011	MedGen:CN220307	Atrial fibrillation, familial, 16	germline	11	123653785	GCCAGCCCCAGAAGATGCCTGCCTTCAATAGATTGTTTCCCCTGGCTTCTCTCGTGCTTAT
786205085	21915	NM_003816.2(ADAM9):c.1130+1G>A	ADAM9	May 01, 2009	MedGen:C1423873,OMIM:612775	Cone-rod dystrophy 9	germline	8	39026811	AAAGAGCTGCATCATGAATTCAGGAGCATCGTGAGTACCTGGGTTCTTCTTCTCCTTTATT
150291837	214312	NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu)	C2CD3	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	11	74049431	ACATCACAGACTTCAGTGGAGAGTGCCAGGGGCAGATAAAAGTTGCTGTCTCCCCTTTGGA
137852572	24858	NM_000044.4(AR):c.2324G>A (p.Arg775His)	AR	May 05, 2017	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67721838	TTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTG
746834464	245891	NM_000527.4(LDLR):c.949G>A (p.Glu317Lys)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11110660	TGCATCCCCTGGCCCTGCGCAGGGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCC
104893765	28653	NM_000306.3(POU1F1):c.515G>A (p.Arg172Gln)	POU1F1	Sep 28, 2017	MedGen:C2751608,OMIM:613038;MedGen:CN517202	Pituitary hormone deficiency, combined 1;not provided	germline	3	87262160	GCTCTGAATTCAGTCAAACAACAATCTGCCGATTTGAAAATCTGCAGCTCAGCTTTAAAAA
66851495	103193	NM_000531.5(OTC):c.717G>A (p.Glu239=)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408795	AACCAAGTTGGCAGAGCAGTATGCCAAAGAGGTATGCTCTTTACATGTAAAGCTATTATTG
121965082	26895	NM_000260.3(MYO7A):c.1797G>A (p.Met599Ile)	MYO7A	Jun 15, 2001	MedGen:C1838701,OMIM:600060;MedGen:C1848638	Deafness, autosomal recessive 2;Usher syndrome, type 1B	germline	11	77166162	CAAGCAGATCTTCCAGGCCGATGTCGCCATGGTAAGCCGGGTGCGGTTTCTGTTGTTCGGG
-1	439488	NM_001284214.1(TRIP12):c.3887+1G>A	TRIP12	Nov 06, 2017	MedGen:CN593636,OMIM:617752	MENTAL RETARDATION, AUTOSOMAL DOMINANT 49	germline	2	229795178	TTTCCCTAGTGGAAATGGGACAGGAGGCAGGTAAGGACCATTGCCTGGCTATACCCTTGCC
28934575	27404	NM_000546.5(TP53):c.733G>A (p.Gly245Ser)	TP53	Oct 02, 2017	MedGen:C0001418;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;MedGen:C0334579,Orphanet:ORPHA251589,SNOMED CT:55353007;MedGen:C1266184;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;MedGen:C2675080;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MedGen:CN517202	Adenocarcinoma;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Astrocytoma, anaplastic;Atypical teratoid/rhabdoid tumor;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Li-Fraumeni-like syndrome;Neoplasm;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;not provided	germline;somatic;unknown	17	7674230	AACTACATGTGTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCA
386134129	51218	NM_000096.3(CP):c.1874G>A (p.Gly625Glu)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149186723	GTTATTTCCCAACTTTTACAGCCATGAATGGATTCATGTATGGGAATCAGCCGGGTCTCAC
119469013	18673	NM_000250.1(MPO):c.1501G>A (p.Gly501Ser)	MPO	Sep 21, 2007	MedGen:C0398595,OMIM:254600,Orphanet:ORPHA2587,SNOMED CT:129644003,SNOMED CT:234433009	Myeloperoxidase deficiency	germline	17	58273534	GCCAACGTCTTCACCAATGCCTTCCGCTACGGCCACACCCTCATCCAACCCTTCATGTTCC
797045382	209283	NM_000052.6(ATP7A):c.3764G>A (p.Gly1255Glu)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78040696	CTATGGGCTTAGAAGTAGTTCTGATGACTGGAGACAACAGTAAAACAGCTAGATCTATTGC
387906607	38594	NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys)	COL6A2	Mar 26, 2010	MedGen:CN033863,OMIM:254090	Ullrich congenital muscular dystrophy 1	germline	21	46125518	CTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGG
587779477	106979	NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997211	ATGGAGAACGAGGTGGCCCTGGAGGACCTGGCCCTCAGGTACGTAGCTTTCCTCAATTTAT
-1	475259	NM_000314.6(PTEN):c.333G>A (p.Trp111Ter)	PTEN	Jun 01, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	87933092	CAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCA
879253952	244326	NM_000465.3(BARD1):c.1811-1G>A	BARD1	Jun 09, 2015	MedGen:CN517202	not provided	germline	2	214745160	TCTTTCTCTTACTGCTTTTTTTGTATTTTAGTAACTCATGTTGTTGTTCCTGGTGATGCAG
201227603	19648	NM_032383.4(HPS3):c.1163+1G>A	HPS3	Feb 16, 2016	MedGen:C3888001,OMIM:614072	Hermansky-Pudlak syndrome 3	germline	3	149145547	CACGCCACAATTTTTGCACGTCATTACAAGGTACTGTTAGAGGGTCACTTGCTGGCCTGTG
1057519407	362437	NM_001197104.1(KMT2A):c.4696+1G>A	KMT2A	-	MedGen:C1854630,OMIM:605130,Orphanet:ORPHA319182	Wiedemann-Steiner syndrome	de novo	11	118490250	GTCATGATTGCGCCAAGCTCTTTGCTAAAGGTACCCAAAAAAGCCAGTTTTGCCAGCTTTC
1131692261	424470	NM_001005463.2(EBF3):c.626G>A (p.Arg209Gln)	EBF3	Jul 20, 2017	MedGen:CN517202	not provided	germline	10	129877778	TGAAGAATGCAGGCAACCCTCGAGATATGCGGAGATTCCAGGTATACATTTCTCAAAGACA
397516020	51885	NM_000256.3(MYBPC3):c.3490+1G>A	MYBPC3	Sep 10, 2012	MedGen:C1861862,OMIM:115197;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy	germline	11	47332813	CCAAGGAGCCCGTCTTTATCCCCAGACCAGGTGCTGTACCCTCATTCTTCCAACCAGGGGC
794726971	190723	NM_000155.3(GALT):c.905-1G>A	GALT	Mar 16, 2015	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34649409	CTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCA
121908029	18730	NM_000527.4(LDLR):c.682G>A (p.Glu228Lys)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11105588	GGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGG
144081869	17345	NM_005609.3(PYGM):c.2056G>A (p.Gly686Arg)	PYGM	Mar 01, 1998	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	germline	11	64750497	GGCACCGGCAACATGAAGTTCATGCTCAACGGGGCTCTGACCATTGGCACCATGGACGGGG
121912860	32445	NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu)	COL4A4	Sep 01, 1996	MedGen:C0241908,OMIM:141200,SNOMED CT:236421001	Benign familial hematuria	germline	2	227055971	CAGGAATCCCAGGTCCCTTTGGAGATGATGGGCTACCTGGTCCTCCAGGTCCAAAGGGTAG
752281590	237580	NM_001168272.1(ITPR1):c.7615G>A (p.Gly2539Arg)	ITPR1	Jul 20, 2016	MedGen:C0431401,OMIM:206700,Orphanet:ORPHA1065,SNOMED CT:253176002	Gillespie syndrome	germline	3	4814521	GTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGC
587776775	27782	NM_004356.3(CD81):c.561+1G>A	CD81	Apr 01, 2010	MedGen:C3150741,OMIM:613496	Common variable immunodeficiency 6	unknown	11	2395971	GGCAGCAACATCATCAGCAACCTCTTCAAGGTGCGCGAGGCCGGTGGGGCCGCGCCTGACC
121918221	16261	NM_006363.5(SEC23B):c.325G>A (p.Glu109Lys)	SEC23B	Nov 18, 2013	MedGen:C1306589,OMIM:224100,Orphanet:ORPHA98873,SNOMED CT:68870007;MedGen:CN517202	Congenital dyserythropoietic anemia, type II;not provided	germline	20	18515695	GGAGGCATATCTGAGGTGAATCAACCTGCCGAATTGATGCCCCAGTTTTCTACAATTGAGT
886042021	265171	NM_001399.4(EDA):c.872G>A (p.Gly291Glu)	EDA	Oct 04, 2016	MedGen:CN517202	not provided	germline	X	70033476	CCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTA
876657418	228230	NM_033056.3(PCDH15):c.158-1G>A	PCDH15	May 19, 2016	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	10	54378943	ATGTTTTCAAGTACCTTTCTTTGGTTTGCAGGTACAATTCTGGTGGACAACATGCTGATCA
121908980	21974	NM_001164277.1(SLC37A4):c.1016G>A (p.Gly339Asp)	SLC37A4	Aug 01, 2000	MedGen:C0268146,OMIM:232220,SNOMED CT:30102006;MedGen:CN517202	Glucose-6-phosphate transport defect;not provided	germline	11	119025298	TCTGGATCCTGGTATTGGGAGCTGTATTTGGTTTCTCCTCGTATGGCCCCATTGCCCTGTT
80358268	23518	NM_006432.3(NPC2):c.190+5G>A	NPC2	Jul 22, 2008	MedGen:C1843366,OMIM:607625	Niemann-Pick disease type C2	germline	14	74486324	CAGCGTCAATGTCACCTTCACCAGCAGTGCGTAAAAGTGGCTCTTAACTCAAATTCATGTT
1057521070	375991	NM_001083962.1(TCF4):c.1727G>A (p.Arg576Gln)	TCF4	Dec 19, 2016	MedGen:CN517202	not provided	germline	18	55228999	AGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGA
113994139	33347	NM_139276.2(STAT3):c.1909G>A (p.Val637Met)	STAT3	May 16, 2017	MedGen:CN204280,Orphanet:ORPHA331223;MedGen:C0022398,OMIM:147060,SNOMED CT:50926003;MedGen:CN517202	Hyper-IgE syndrome;Hyperimmunoglobulin E syndrome;not provided	germline	17	42322474	CCTGTGACAGGTAAGACCCAGATCCAGTCCGTGGAACCATACACAAAGCAGCAGCTGAACA
121918666	27775	NM_198253.2(TERT):c.2594G>A (p.Arg865His)	TERT	Apr 27, 2015	MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000;MedGen:C3553617,OMIM:614742;MedGen:CN517202	Idiopathic fibrosing alveolitis, chronic form;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;not provided	germline	5	1266524	GTATTTTCCCTTATTTTAGGCTGCTCCTGCGTTTGGTGGATGATTTCTTGTTGGTGACACC
786205835	188700	NM_001037.4(SCN1B):c.449-1G>A	SCN1B	Jan 22, 2014	MedGen:CN517202	not provided	germline	19	35039116	CTACCCCCTTAACCCTGCCTGGCCCCTGCAGCCAACAGAGACATGGCATCCATCGTGTCTG
201497300	186890	NM_000053.3(ATP7B):c.3007G>A (p.Ala1003Thr)	ATP7B	Jun 19, 2017	Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Epileptic encephalopathy;Wilson disease	germline;unknown	13	51946337	ACGGCTGTCATGGTGGGCACCGGGGTGGCCGCGCAGAACGGCATCCTCATCAAGGGAGGCA
145360423	415113	NM_000265.5(NCF1):c.579G>A (p.Trp193Ter)	NCF1	Oct 31, 2016	MedGen:CN517202	not provided	germline	7	74783529	GTCACATTCCCGCACCTCTGGCACAGGTTGGTGGTTCTGTCAGATGAAAGCAAAGCGAGGC
-1	480738	NM_001791.3(CDC42):c.511G>A (p.Glu171Lys)	CDC42	Nov 01, 2017	MedGen:CN239316	Noonan-Like Syndrome Disorder	germline	1	22091452	TTTCAGAAAGGCCTAAAGAATGTATTTGACGAAGCAATATTGGCTGCCCTGGAGCCTCCAG
727503260	175624	NM_000257.3(MYH7):c.2302G>A (p.Gly768Arg)	MYH7	Aug 01, 2017	Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Cardiomyopathy;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;not provided	germline	14	23425403	ACACCTTGCCTGCAGGTGTTCTTCAAGGCCGGGCTGCTGGGGCTGCTGGAGGAAATGAGGG
397508111	67715	NM_000218.2(KCNQ1):c.477+5G>A	KCNQ1	Jun 12, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202;MedGen:CN169374	Long QT syndrome;not provided;not specified	germline	11	2528023	TGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGTCATG
67707918	413957	NM_000089.3(COL1A2):c.1171G>A (p.Gly391Ser)	COL1A2	-	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	paternal	7	94410501	AGAGGCCCTAATGGGGAAGCTGGATCTGCCGGCCCTCCAGGACCTCCTGGGCTGAGAGTAG
121908765	68447	NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Cystic fibrosis;Hereditary pancreatitis	germline;unknown	7	117627665	GAATTCACACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGAT
-1	431959	NM_000527.4(LDLR):c.1988-1G>A	LDLR	Mar 01, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11120369	TCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGA
281865036	46985	NM_024312.4(GNPTAB):c.3434+1G>A	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101757211	CCAGTTGGATGACATAAGAAAAAACCCTAGGTACTGATTTTTATATATAATTTTTAATTAT
1057518915	361063	NM_153638.3(PANK2):c.894G>A (p.Met298Ile)	PANK2	Apr 01, 2015	Human Phenotype Ontology:HP:0002180,MedGen:C0027746	Neurodegeneration	unknown	20	3908191	CACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCAC
121918116	31634	NM_000121.3(EPOR):c.1317G>A (p.Trp439Ter)	EPOR	Jun 28, 2016	MedGen:C1851490,OMIM:133100	Familial erythrocytosis, 1	germline	19	11378194	GGACCCCAGCTCCCAGCTCTTGCGTCCATGGACACTGTGCCCTGAGCTGCCCCCTACCCCA
1057520504	372864	NM_000545.6(HNF1A):c.788G>A (p.Arg263His)	HNF1A	Apr 01, 2015	MedGen:CN517202	not provided	germline	12	120994238	GGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAA
-1	444182	NM_000089.3(COL1A2):c.1316G>A (p.Gly439Asp)	COL1A2	Aug 08, 2017	MedGen:CN517202	not provided	germline	7	94411120	CTGGAGTCCGAGGACCTAATGGAGATGCTGGTCGCCCTGGGGAGCCTGGTCTCATGGGACC
267606923	15218	NM_000274.3(OAT):c.533G>A (p.Trp178Ter)	OAT	Jan 29, 1993	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124405551	TTTGTTTCCCCTTTGTAGCTGGGAACTTCTGGGGTAGGACGTTGTCTGCTATCTCCAGTTC
137852274	25682	NM_000133.3(F9):c.328G>A (p.Asp110Asn)	F9	Oct 09, 2017	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139541126	AATCCATGTTTAAATGGCGGCAGTTGCAAGGATGACATTAATTCCTATGAATGTTGGTGTC
398122929	48505	NM_001291415.1(KDM6A):c.3873G>A (p.Trp1291Ter)	KDM6A	Feb 15, 2013	MedGen:C3275495,OMIM:300867	Kabuki syndrome 2	germline	X	45089911	GGCTATTGGCTGGTGCAACAACATTGCTTGGAATGTTGGTCCACTTACAGGTATTATAAAG
786205860	189177	NM_001282684.1(KCTD17):c.434G>A (p.Arg145His)	KCTD17	May 12, 2015	MedGen:C4225341,OMIM:616398	Dystonia 26, myoclonic	germline	22	37057420	GCCCACAGGTCCCACCCAAGCACGTGTACCGCGTGCTGCAGTGCCAGGAGGAGGAGCTCAC
104894407	169013	NM_004004.5(GJB2):c.132G>A (p.Trp44Ter)	GJB2	Feb 08, 2013	Human Phenotype Ontology:HP:0000365,MedGen:C0018772	Hearing impairment	germline	13	20189450	GATCCTCGTTGTGGCTGCAAAGGAGGTGTGGGGAGATGAGCAGGCCGACTTTGTCTGCAAC
1114167533	419797	NM_130799.2(MEN1):c.1269G>A (p.Trp423Ter)	MEN1	Jun 06, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	64805115	GCTGCGATTCTACGACGGCATCTGCAAATGGGAGGAGGGCAGTCCCACGCCTGTGCTGCAT
121913679	28882	NM_000222.2(KIT):c.1990G>A (p.Gly664Arg)	KIT	Feb 01, 1992	Human Phenotype Ontology:HP:0007443,MedGen:C0080024,OMIM:172800,Orphanet:ORPHA2884,SNOMED CT:6479008	Partial albinism	germline	4	54728121	GTGAATCTACTTGGAGCCTGCACCATTGGAGGTAAAGCCGTGTCCAAGCTGCCTTTTATTG
68031618	26032	NM_000531.5(OTC):c.77G>A (p.Arg26Gln)	OTC	Jan 26, 2017	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38352773	ATGGTCACAACTTCATGGTTCGAAATTTTCGGTAAGTGATGGTCAGAGACTTGGGTTTGAT
587777570	150453	NM_004522.2(KIF5C):c.709G>A (p.Glu237Lys)	KIF5C	Nov 23, 2017	MedGen:C3809013,OMIM:615282;MedGen:CN517202	Cortical dysplasia, complex, with other brain malformations 2;not provided	de novo;germline	2	148947018	AAACTTTATTTGGTTGATTTGGCTGGGAGCGAAAAGGTAATTTGTTCTTTATTTGTATTAT
-1	479239	NM_032043.2(BRIP1):c.1004G>A (p.Trp335Ter)	BRIP1	Aug 21, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61801389	TACAGACTTTCCAAGGGATGTGCAAAGCCTGGGATATAGAAGAACTTGTCAGCCTGGGGAA
-1	445814	NM_000088.3(COL1A1):c.2138G>A (p.Gly713Asp)	COL1A1	Oct 04, 2017	MedGen:CN517202	not provided	germline	17	50191480	TCTTCTTGGTTGTCACATAGGGTGATGCTGGTGCCCCTGGAGCTCCCGGTAGCCAGGGCGC
1060503092	396584	NM_006096.3(NDRG1):c.205+1G>A	NDRG1	Jul 25, 2017	MedGen:CN043578	Charcot-Marie-Tooth disease, type IV	germline	8	133264546	TCCTCACCTACCATGACATCGGCATGAACCGTAAGTTCTGAGGAGCTCTGATTCCCTGTCA
387907300	45818	NM_032806.5(POMGNT2):c.473G>A (p.Arg158His)	POMGNT2	Dec 01, 2014	MedGen:C3553813,OMIM:614830;Human Phenotype Ontology:HP:0003811,MedGen:C0410916;Human Phenotype Ontology:HP:0006882,MedGen:C3278123	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8;Neonatal death;Severe hydrocephalus	germline	3	43080959	TCGTGCCAGACGTGGCCCTCATCGCCAACCGCTTCAACCCCGACAACCTCATGCACGTCTT
1064794273	409860	NM_000267.3(NF1):c.801G>A (p.Trp267Ter)	NF1	Mar 14, 2017	MedGen:CN517202	not provided	germline	17	31182578	TGAAAGCACCAAACGTAAAGCAGCAGTTTGGCCACTACAAATCATTCTCCTTATCTTGTGT
1064794026	408678	NM_003482.3(KMT2D):c.4148G>A (p.Cys1383Tyr)	KMT2D	Aug 03, 2015	MedGen:CN517202	not provided	germline	12	49048053	CTGTGTTTCCCCAGGACATGTGTGTGGTATGTGGCAGCTTTGGCCGGGGGGCAGAGGGCCA
878853133	237489	NM_052867.3(NALCN):c.979G>A (p.Glu327Lys)	NALCN	May 19, 2015	MedGen:C4225398,OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	de novo	13	101292058	TTTATTGCTGTTATCATTGAAACATTTGCAGAAATCAGAGTACAGTTTCAACAAATGTGGG
57794451	426944	NM_001171.5(ABCC6):c.2306G>A (p.Arg769Lys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178907	AGCGGCTGAGCCTGGCCCGGGCTGTATACAGAAAGGCAGCTGTGTACCTGCTGGATGACCC
764085684	263793	NM_005993.4(TBCD):c.1130G>A (p.Arg377Gln)	TBCD	Nov 16, 2016	MedGen:C4310671,OMIM:617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	germline	17	82807650	TCGGGCTGAAGGACAAGGACACGGTCGTGCGGTGGTCTGCAGCCAAGGGGTAGGTGTCTGT
864309532	215102	NM_001015877.1(PHF6):c.418G>A (p.Ala140Thr)	PHF6	Dec 15, 2015	MedGen:C0265339,OMIM:301900,SNOMED CT:21634003	Borjeson-Forssman-Lehmann syndrome	de novo	X	134393952	AAACACAAGAAAACTGCACATAACTCCGAAGGTACATCATTTAGCCACGTTTCAGCCACTT
267606898	24742	m.13042G>A	MT-ND5	Apr 01, 2007	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003;MedGen:C1838951;MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Leigh syndrome due to mitochondrial complex I deficiency;Myoclonus with epilepsy with ragged red fibers	germline	MT	13042	CAATTAGGTCTCCACCCCTGACTCCCCTCAGCCATAGAAGGCCCCACCCCAGTCTCAGCCC
1057519565	362364	NM_021008.3(DEAF1):c.634G>A (p.Gly212Ser)	DEAF1	May 12, 2017	MedGen:C4014414,OMIM:615828;MedGen:CN517202	Mental retardation, autosomal dominant 24;not provided	de novo;germline	11	687941	GAGCTGCCCGTACGGTGCCGGAACATCAGCGGCACTCTGTACAAGAACAGGCTCGGCTCAG
72552296	103081	NM_000531.5(OTC):c.3G>A (p.Met1Ile)	OTC	-	MedGen:CN517202	not provided	unknown	X	38352699	GAATCGTCCTTTACACAATTAAAAGAAGATGCTGTTTAATCTGAGGATCCTGTTAAACAAT
545215807	200323	NM_000018.3(ACADVL):c.553G>A (p.Gly185Ser)	ACADVL	Mar 22, 2017	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202	Very long chain acyl-CoA dehydrogenase deficiency;not provided	germline;unknown	17	7221613	GGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAA
367543062	40177	NM_023073.3(CPLANE1):c.7400+1G>A	CPLANE1	May 31, 2013	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	germline	5	37167046	AGTAAGACAAGGAAAGGACAGTAAAAAAAGGCAAGGCTTAAGTGAAATTTTATTTGATAAT
587779459	107039	NM_000090.3(COL3A1):c.1194+1G>A (p.Gly384_Met398del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188994083	AATGGTAGTCCTGGTGGTAAAGGCGAAATGGTAAGCTGTCCCCACTCCTCAGCCTTATCTC
199473083	78939	NM_198056.2(SCN5A):c.845G>A (p.Arg282His)	SCN5A	Apr 10, 2014	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144	Brugada syndrome;Brugada syndrome 1	germline	3	38609823	TCATGGGCAACCTAAGGCACAAGTGCGTGCGCAACTTCACAGCGCTCAACGGCACCAACGG
59190510	34026	NM_000424.3(KRT5):c.1429G>A (p.Glu477Lys)	KRT5	Sep 01, 2011	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	not provided	12	52516647	ATCGCCACTTACCGCAAGCTGCTGGAGGGCGAGGAATGCAGGTGAGTAGACAGCATGAACT
1131692281	424509	NM_016203.3(PRKAG2):c.547G>A (p.Glu183Lys)	PRKAG2	Jan 14, 2016	MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED CT:74390002	Wolff-Parkinson-White pattern	maternal	7	151675557	CACACGTTTCCCCTGGAATCCTATAAGCACGAGCCTGAACGGTTAGAGAATCGCATCTATG
118203887	24614	m.622G>A	MT-TF	Jun 01, 2006	MedGen:C4016623	Myopathy, mitochondrial, late-onset	germline	MT	622	CTCCTCAAAGCAATACACTGAAAATGTTTAGACGGGCTCACATCACCCCATAAACAAATAG
587779545	106995	NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006391	ATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCC
373297713	26929	NM_000128.3(F11):c.1716+1G>A	F11	Oct 23, 2015	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	germline;unknown	4	186287824	TACAGGGAAGGAGGGAAGGACGCTTGCAAGGTAACAGAGTGTTCTTAGCCAATGGAATATA
6025	15681	NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	F5	Jul 14, 2017	na;MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED CT:4320005;na;MedGen:C0000809,OMIM:614389,SNOMED CT:102878001;MedGen:C1861171,OMIM:188055;MedGen:C2674152	Budd-Chiari syndrome, susceptibility to;Factor V deficiency;Ischemic stroke, susceptibility to;Recurrent abortion;Thrombophilia due to activated protein C resistance;Thrombophilia due to factor V Leiden	germline	1	169549811	TAATCTGTAAGAGCAGATCCCTGGACAGGCGAGGAATACAGGTATTTTGTCCTTGAAGTAA
79833450	20645	NM_012144.3(DNAI1):c.1543G>A (p.Gly515Ser)	DNAI1	Nov 26, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia;Kartagener syndrome	germline	9	34513165	CACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGA
281874717	35993	NM_000495.4(COL4A5):c.3587G>A (p.Gly1196Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108667166	AACCAGGCTTTGGAAACCCAGGACCCCCTGGACTTCCAGGACTTTCTGGTAAACCTTAATA
797045942	206877	NM_021007.2(SCN2A):c.2567G>A (p.Arg856Gln)	SCN2A	Oct 19, 2015	Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:CN517202	Seizures;not provided	germline	2	165344559	AACACTGTTCTTGCTTTTATTTCCAGCTCCGAGTTTTCAAGTTGGCAAAATCTTGGCCAAC
62638202	20882	NM_000843.3(GRM6):c.448G>A (p.Gly150Ser)	GRM6	Mar 29, 2005	MedGen:C1850362,OMIM:257270;MedGen:CN517202	Congenital stationary night blindness, type 1B;not provided	germline	5	178994497	GCGCCCCCCGAGCGCGTCGTGGCCGTCGTGGGCGCCTCGGCCAGCTCCGTCTCCATCATGG
762162799	367608	NM_000094.3(COL7A1):c.6082G>A (p.Gly2028Arg)	COL7A1	Oct 30, 2017	MedGen:CN517202	not provided	germline	3	48575437	GGTCTGGCCCTTGGGGAGAGGGGCCCCCCCGGGCCTTCCGGCCTTGCCGGGGAGCCTGGAA
387906647	38738	NM_001242957.2(MAK):c.37G>A (p.Gly13Ser)	MAK	Aug 12, 2011	MedGen:C3280042,OMIM:614181	Retinitis pigmentosa 62	germline	6	10830612	CGATACACAACCATGAGACAGTTGGGGGACGGCACGTATGGGAGTGTGCTTATGGGCAAGA
747855862	233910	NM_000051.3(ATM):c.332-1G>A	ATM	Mar 30, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108235669	TGTTTTTCTTTATTTGTTTATTTTGAAATAGGAGCACCTAGGCTAAAATGTCAAGAACTCT
267606850	26734	NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg)	GPC3	Mar 01, 2009	MedGen:C0796154,OMIM:312870,Orphanet:ORPHA373,SNOMED CT:439143004	Simpson-Golabi-Behmel syndrome	germline	X	133536201	GACAACGAGATAAGCACCTTTCACAACCTCGGGAACGTTCATTCCCCGCTGAAGCTTCTCA
1064793887	410130	NM_032043.2(BRIP1):c.2258-1G>A	BRIP1	Jul 20, 2015	MedGen:CN517202	not provided	germline	17	61743135	ATTTTGGATATGCTTTTTTCTGTTGTTTAAGATGGAGCTCTCCTGGTAGCAGTTTGTCGTG
60554162	29675	NM_005554.3(KRT6A):c.1414G>A (p.Glu472Lys)	KRT6A	May 11, 2017	MedGen:C3714948,OMIM:615726;MedGen:CN517202	Pachyonychia congenita 3;not provided	germline	12	52488338	ATCGCCACCTACCGCAAGCTGCTGGAGGGTGAGGAGTGCAGGTGGGTAACTGACACGAACT
879253836	224637	NM_000255.3(MUT):c.927G>A (p.Trp309Ter)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49453741	ACGTTACTATTTTAGGTTGTCTTTCTTCTGGGGAATTGGAATGAATTTCTATATGGAAATA
312262797	49688	NM_024408.3(NOTCH2):c.5858G>A (p.Arg1953His)	NOTCH2	Feb 28, 2013	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629	Alagille syndrome 2	not provided	1	119918477	ATGGTACTACACCCCTGATCCTGGCTGCCCGCCTGGCTGTGGAGGGAATGGTGGCAGAACT
869312946	226924	NM_000019.3(ACAT1):c.757G>A (p.Asp253Asn)	ACAT1	Oct 04, 2012	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	11	108141631	TTAGGTCAACCAGATGTAGTGGTGAAAGAAGATGAAGAATATAAACGTGTTGATTTTAGCA
281875211	76657	NM_080669.5(SLC46A1):c.1127G>A (p.Arg376Gln)	SLC46A1	Dec 08, 2011	MedGen:C0342705,OMIM:229050,Orphanet:ORPHA90045,SNOMED CT:62578003;MedGen:CN517202	Congenital defect of folate absorption;not provided	not provided	17	28402276	TCCTGTCATTAGTCATCACACCTGTCATCCGGGCTAAACTCTCCAAGCTGGTGAGAGAGAC
398123960	100530	NM_004006.2(DMD):c.4518+5G>A	DMD	Jun 19, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32389496	TACAGTCACAGCTAAATCATTGTGTGGTATGTATTTCTGGTGGCAAATACGCAGGTACCCC
149459910	361175	NM_004826.3(ECEL1):c.1470G>A (p.Trp490Ter)	ECEL1	Sep 29, 2014	MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457	Arthrogryposis, distal, type 5d	germline	2	232483452	CCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGG
-1	488084	NM_005458.7(GABBR2):c.2119G>A (p.Ala707Thr)	GABBR2	Mar 15, 2018	MedGen:CN870852,OMIM:617903	NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	germline	9	98306231	TACAACGTGGGGATCATGTGCATCATCGGGGCCGCTGTCTCCTTCCTGACCCGGGACCAGC
371526758	259687	NM_022787.3(NMNAT1):c.507G>A (p.Trp169Ter)	NMNAT1	Mar 15, 2017	MedGen:CN517202	not provided	germline	1	9982368	ATTGGAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCC
121913671	28923	NM_001127500.2(MET):c.3736G>A (p.Asp1246Asn)	MET	May 13, 2016	Human Phenotype Ontology:HP:0030731,MeSH:D002277,MedGen:C0007097;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009	Carcinoma;Renal cell carcinoma, papillary, 1	germline;somatic	7	116783353	GTCAAGGTTGCTGATTTTGGTCTTGCCAGAGACATGTATGATAAAGAATACTATAGTGTAC
587777182	106806	NM_006702.4(PNPLA6):c.3184G>A (p.Val1062Met)	PNPLA6	Mar 04, 2014	MedGen:C1859093,OMIM:215470,Orphanet:ORPHA1180	Boucher Neuhauser syndrome	germline	19	7557185	TCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACC
368529673	259770	NM_000094.3(COL7A1):c.7865G>A (p.Arg2622Gln)	COL7A1	Mar 30, 2015	MedGen:CN517202	not provided	germline	3	48568100	AAAAAGGAGATGTTGGCTTCATGGGTCCCCGGGGCCTCAAGGTAGGAAAGAAACAAGATTG
869320618	38830	NM_000539.3(RHO):c.482G>A (p.Trp161Ter)	RHO	Mar 01, 2011	MedGen:C4016366	Retinitis pigmentosa 4, autosomal recessive	germline	3	129530996	ACCATGCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCACCCCC
138000380	171738	NM_018075.4(ANO10):c.1843G>A (p.Asp615Asn)	ANO10	Feb 01, 2017	MedGen:C3150998,OMIM:613728,Orphanet:ORPHA284289	Spinocerebellar ataxia, autosomal recessive 10	germline	3	43432682	TTAAAGTTTATACTTGCATTTGCCATACCTGATAAGCCACGGCATATCCAGATGAAACTAG
104894335	32874	NM_000486.5(AQP2):c.523G>A (p.Gly175Arg)	AQP2	Sep 01, 1998	MedGen:C4015884	Diabetes insipidus, nephrogenic, autosomal recessive	germline	12	49954317	GGCTTCTCTGTGGCCCTGGGCCACCTCCTTGGGGTAGGTCATGGCCATGGGTTCCAGCCTC
-1	443770	NM_016222.3(DDX41):c.572-1G>A	DDX41	Jun 29, 2017	MedGen:CN517202	not provided	germline	5	177515259	TCATGAAGACGATGTCGGTTGGTTTTCATAGCCATCCTGAGAGGCCTGAAGAAGAAAGGCA
1064796636	409265	NM_000138.4(FBN1):c.6037+1G>A	FBN1	Mar 01, 2017	MedGen:CN517202	not provided	germline	15	48444540	GATACAGTCTTCAAAATGAGAAGTGTGAAGGTAGGAAAGCTATCAGTTGTAGCAAATGAGG
267606991	16639	NM_030916.2(NECTIN4):c.851G>A (p.Arg284Gln)	NECTIN4	Aug 13, 2010	MedGen:C3150807,OMIM:613573,Orphanet:ORPHA247820	Ectodermal dysplasia-syndactyly syndrome 1	germline	1	161076355	GGCAGCCCCCTCCCTCATACAACTGGACACGGTAAGGGCCCGAGCCTGAGGAAGGCCTAAC
28934610	26889	NM_000260.3(MYO7A):c.635G>A (p.Arg212His)	MYO7A	May 17, 2011	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:C1848638	Usher syndrome, type 1;Usher syndrome, type 1B	germline	11	77156904	CCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAA
121918180	15943	NM_000181.3(GUSB):c.1338G>A (p.Trp446Ter)	GUSB	Jan 01, 1998	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65974348	GGACAAGAACCACCCCGCGGTCGTGATGTGGTCTGTGGCCAACGAGCCTGCGTCCCACCTA
777759523	17038	NM_199242.2(UNC13D):c.1389+1G>A	UNC13D	Mar 03, 2017	MedGen:C0272199,SNOMED CT:398250003;MedGen:C1837174,OMIM:608898;MedGen:CN517202	Familial hemophagocytic lymphohistiocytosis;Hemophagocytic lymphohistiocytosis, familial, 3;not provided	germline	17	75836338	TTGCCCCAGCTGGTGACTGAGGCCCTGCAGGTATGGTACTCGCGCTGGGGATGGGGGAGAC
121918508	28335	NM_000141.4(FGFR2):c.1942G>A (p.Ala648Thr)	FGFR2	Apr 01, 2006	MedGen:C0265269,OMIM:149730,SNOMED CT:23817003	Levy-Hollister syndrome	germline	10	121488035	AATGTGATGAAAATAGCAGACTTTGGACTCGCCAGAGATATCAACAATATAGACTATTACA
104886280	36072	NM_000495.4(COL4A5):c.4351G>A (p.Gly1451Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108687535	CCTGGTCCAGATGGATTGCAAGGTCCCCCAGGTCCCCCTGGAACCTCCTCTGTTGCACATG
-1	446863	NM_138615.2(DHX30):c.2342G>A (p.Gly781Asp)	DHX30	Dec 18, 2017	MedGen:CN703736,OMIM:617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	germline	3	47848235	TATCAAGAGCCAATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGC
796052924	201115	NM_000310.3(PPT1):c.362+5G>A	PPT1	Jul 19, 2013	MedGen:CN517202	not provided	germline	1	40092040	GGATTCTCCCAGGGAGGCCAATTTCTGTACGTTCCTTTTTGTTATATTGTACCACTTATAT
368027306	187219	NM_001146077.1(CLDN14):c.242G>A (p.Arg81His)	CLDN14	Feb 01, 2012	MedGen:C3279660,OMIM:614035	Deafness, autosomal recessive 29	germline	21	36461454	TGGCGCTGCCCCAAGACCTCCAGGCTGCCCGCGCCCTCATGGTCATCTCCTGCCTGCTCTC
28933369	28918	NM_001005862.2(ERBB2):c.2236G>A (p.Gly746Ser)	ERBB2	May 13, 2016	MedGen:C0278701;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007	Adenocarcinoma of stomach;Neoplasm;Neoplasm of stomach	somatic	17	39724744	CCTTGTCCCCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTC
397514555	48257	NM_000834.4(GRIN2B):c.1367G>A (p.Cys456Tyr)	GRIN2B	Feb 12, 2013	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	germline	12	13615626	CAGACGAGGAGCCGGGTTACATCAAAAAATGCTGCAAGGGGTTCTGTATTGACATCCTTAA
28931578	32913	NM_000041.3(APOE):c.455G>A (p.Arg152Gln)	APOE	Feb 21, 2017	na	APOE2 VARIANT	germline	19	44908751	CCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCT
41417548	30695	NM_000517.4(HBA2):c.314G>A (p.Cys105Tyr)	HBA2	Mar 28, 2013	na;MedGen:CN077787	HEMOGLOBIN SALLANCHES;Hemoglobin H disease, nondeletional	germline	16	173485	CCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCC
751292948	429067	NM_000124.3(ERCC6):c.2058G>A (p.Trp686Ter)	ERCC6	Oct 29, 2015	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322	Cockayne syndrome B	germline	10	49482798	ACCGATGCAAAATAACCTCCGAGAGCTGTGGTCGCTCTTTGACTTCATCTTCCCGGGAAAG
121912976	31954	NM_000941.2(POR):c.1615G>A (p.Gly539Arg)	POR	Sep 01, 2008	MedGen:C1860042,OMIM:201750;MedGen:C2673964,OMIM:613571	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency	germline	7	75985795	ACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCATCCAGG
779823931	361771	NM_033068.2(ACP4):c.397G>A (p.Glu133Lys)	ACP4	Jan 18, 2017	MedGen:C4310630,OMIM:617297	Amelogenesis imperfecta, type IJ	germline	19	50791749	CTGTTTCCCGAGGCTGCTCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACA
119103259	17352	NM_005609.3(PYGM):c.1827G>A (p.Lys609=)	PYGM	Sep 20, 2016	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	germline;unknown	11	64751597	TGTGCCTCGGACTGTGATGATTGGAGGGAAGGTGAGAAGCCAGGCTCCAGCCCTGGGCTCC
794726842	187787	NM_001165963.1(SCN1A):c.2936G>A (p.Gly979Glu)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166037786	TTACTGTCTTCATGATGGTCATGGTGATTGGAAACCTAGTGGTATGTACCCACTTAAGATA
398123828	100322	NM_004006.2(DMD):c.10086+1G>A	DMD	Oct 22, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31180369	CACTATCCCATGGTGGAATATTGCACTCCGGTAAGTTTGACGCCAGCCTGACGTGAGAGTT
767388144	223309	NM_018297.3(NGLY1):c.1604G>A (p.Trp535Ter)	NGLY1	Jan 07, 2016	MedGen:C3808991,OMIM:615273,Orphanet:ORPHA404454	Congenital disorder of deglycosylation	inherited	3	25729140	AATCTATATTCAGAAAAGTTGAAACAGACTGGCACATGGTAACTTAATGCATAAAACCATT
1131691075	420798	NM_001042492.2(NF1):c.3870+1G>A	NF1	Aug 22, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31235773	GCCAGTAAAATAATGACATTCTGTTTCAAGGTTTGTATCATTCATTTTGTGTGTATGTGTG
267606881	24678	m.8529G>A	MT-ATP8	Nov 02, 2016	MedGen:CN069323	Cardiomyopathy, apical hypertrophic, and neuropathy	germline	MT	8529	AAAATTATAACAAACCCTGAGAACCAAAATGAACGAAAATCTGTTCGCTTCATTCATTGCC
104893773	28077	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	RHO	Aug 01, 1993	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129529049	TACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCT
387906800	39126	NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp)	MAP2K2	Dec 02, 2015	MedGen:C3809007,OMIM:615280;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Cardiofaciocutaneous syndrome 4;Rasopathy;not provided	germline;unknown	19	4110564	TGCACGAATGCAACTCGCCGTACATCGTGGGCTTCTACGGGGCCTTCTACAGTGACGGGGA
766379510	421864	NM_004183.3(BEST1):c.44G>A (p.Gly15Asp)	BEST1	Sep 01, 2015	MedGen:CN517202	not provided	germline	11	61951850	ACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCG
267606761	38418	NM_000787.3(DBH):c.1033G>A (p.Asp345Asn)	DBH	Oct 29, 2015	MedGen:C0342687,OMIM:223360,Orphanet:ORPHA230;MedGen:C0342687,OMIM:223360,Orphanet:ORPHA230	Dopamine beta hydroxylase deficiency;Dopamine beta hydroxylase deficiency	germline	9	133647854	CATCCATCCCACCTTCTCCCAGGACGAAACGACTCCTCAGGCATCCGCTTGTACTACACAG
771965165	432467	NM_018116.3(MSTO1):c.966+1G>A	MSTO1	Sep 22, 2017	MedGen:CN484737,OMIM:617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	germline	1	155612571	CCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGG
387906760	39040	NM_007315.3(STAT1):c.821G>A (p.Arg274Gln)	STAT1	Aug 01, 2011	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190995184	CTATAGTTGCGGAGAGTCTGCAGCAAGTTCGGCAGCAGCTTAAAAAGTTGGAGGAATTGGA
137852894	17832	NM_000158.3(GBE1):c.1643G>A (p.Trp548Ter)	GBE1	Apr 02, 2009	MedGen:C1856304,Orphanet:ORPHA308670;MedGen:C0017923,OMIM:232500,SNOMED CT:11179002	Glycogen storage disease IV, congenital neuromuscular;Glycogen storage disease, type IV	germline	3	81537071	ATGCAGGTAATGAATTTGGGCATCCTGAATGGTTAGACTTCCCAAGAAAAGGAAATAATGA
34637584	16979	NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser)	LRRK2	Dec 07, 2017	MedGen:C1846862,OMIM:607060;MedGen:CN517202	Parkinson disease 8, autosomal dominant;not provided	germline	12	40340400	GCTGCCATCATTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGTAGAATGGGGA
199474722	78954	NM_024685.3(BBS10):c.1202G>A (p.Gly401Glu)	BBS10	-	MedGen:C1859568,OMIM:615987	Bardet-Biedl syndrome 10	germline	12	76346783	CATTTATACCACACTCTATAGTTCTTTGTGGACCAGTGCATGGTCTCATTGAACAACATGA
72656392	457699	NM_000089.3(COL1A2):c.946G>A (p.Gly316Ser)	COL1A2	Nov 15, 2016	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94409732	ACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGAC
104894716	21354	NM_001022.3(RPS19):c.98G>A (p.Trp33Ter)	RPS19	Mar 19, 2009	MedGen:C2676137,OMIM:105650	Diamond-Blackfan anemia 1	germline	19	41861138	TTAGGTCCGGGAAGCTGAAAGTCCCCGAATGGGTGGATACCGTCAAGCTGGCCAAGCACAA
775171520	213370	NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter)	BRIP1	Aug 10, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	61793727	TTGACACAATTGTTTTATTTTATTTCAGTTGGTTAGAAGCAAACGCTGAATATCTTGTAGA
863225079	214097	NM_006245.3(PPP2R5D):c.598G>A (p.Glu200Lys)	PPP2R5D	Oct 17, 2015	MedGen:C4225354,OMIM:616355,Orphanet:ORPHA457279;MedGen:CN517202	Mental retardation, autosomal dominant 35;not provided	germline	6	43007271	ACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATC
113994107	47565	NM_001845.5(COL4A1):c.1769G>A (p.Gly590Glu)	COL4A1	Mar 08, 2011	MedGen:C1843512,OMIM:607595	Brain small vessel disease with hemorrhage	not provided	13	110186513	GATTGAAAGGAGAGCGTGGCCCCCCTGGAGGAGTTGGATTCCCAGGCAGTCGTGGTGACAC
387906794	39115	NM_001001557.3(GDF6):c.595G>A (p.Ala199Thr)	GDF6	Mar 12, 2018	MedGen:C3715164,OMIM:615360;MedGen:C3150968,OMIM:613703	Leber congenital amaurosis 17;Microphthalmia, isolated, with coloboma 6	not provided	8	96145336	TTCCCTTGCCTTTCGCCCCTACTGCTGGACGCGCGGACCCTGGACCCGCAGGGGGCGCCGC
606231305	170190	NM_003921.4(BCL10):c.57+1G>A	BCL10	Nov 20, 2014	MedGen:C4015195,OMIM:616098	Immunodeficiency 37	germline	1	85276295	GAGGAGGACCTCACTGAAGTGAAGAAGGACGTGAGTAACGCAGCTGTGCCCAGGGCGGGCG
111033747	36574	NM_000155.3(GALT):c.658G>A (p.Glu220Lys)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648427	AAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGG
864309551	215197	NM_000147.4(FUCA1):c.1082G>A (p.Trp361Ter)	FUCA1	Apr 14, 2015	MedGen:CN517202	not provided	unknown	1	23848727	TCCAAGAAAGGCTTCTTGCTGTTGGGAAATGGCTGAGCATCAATGGGGAGGCTATCTATGC
-1	485877	NM_006088.5(TUBB4B):c.1172G>A (p.Arg391His)	TUBB4B	Feb 16, 2018	MedGen:CN807950,OMIM:617879	LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS	germline	9	137243390	TCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGA
140015315	178848	NM_000888.4(ITGB6):c.427G>A (p.Ala143Thr)	ITGB6	Feb 13, 2015	MedGen:C4015557,OMIM:616221	Amelogenesis imperfecta, type IH	germline	2	160195535	GTGGATTTGTATTACCTCATGGACCTCTCCGCCTCCATGGATGACGACCTCAACACAATAA
387906588	38547	NM_001105.4(ACVR1):c.982G>A (p.Gly328Arg)	ACVR1	Mar 01, 2009	MedGen:C0016037,OMIM:135100,Orphanet:ORPHA337,SNOMED CT:82725007	Progressive myositis ossificans	germline	2	157766005	CATTTGCACATAGAGATATTTGGGACCCAAGGGAAACCAGCCATTGCCCATCGAGATTTAA
80356462	23638	NM_175875.4(SIX5):c.886G>A (p.Ala296Thr)	SIX5	Aug 27, 2009	MedGen:C1970479,OMIM:610896	Branchiootorenal syndrome 2	germline	19	45767073	GACCTGGAGAGAGGGGCGGCCCCAGTGTCCGCCGAGGCCGCTGCCCAGGGCTCCATATTCC
137854451	31787	NM_001972.3(ELANE):c.640G>A (p.Gly214Arg)	ELANE	Jun 30, 2015	MedGen:C1859966,OMIM:202700;MedGen:CN517202	Severe congenital neutropenia autosomal dominant;not provided	germline	19	856000	AGCCCCTTGGTCTGCAACGGGCTAATCCACGGAATTGCCTCCTTCGTCCGGGGAGGCTGCG
180177263	200546	NM_000030.2(AGXT):c.753G>A (p.Trp251Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240875181	CCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGC
886041775	264883	NM_014271.3(IL1RAPL1):c.703+1G>A	IL1RAPL1	May 12, 2016	MedGen:CN517202	not provided	germline	X	29399309	TGAGAAGAACTACTGAATTAACTGTTACAGGTAATCACAGTCTTCAATATTTCACTTGCAA
104894901	26466	NM_001129765.1(NSDHL):c.613G>A (p.Gly205Ser)	NSDHL	Feb 01, 2011	MedGen:C0265267,OMIM:308050,Orphanet:ORPHA139,SNOMED CT:17608003	Child syndrome	germline	X	152865888	ACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCC
-1	466602	NM_000267.3(NF1):c.4110+1G>A	NF1	May 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31249120	CTTCGAAGTGTGTGCCACTGTTTATACCAGGTATGCTTACAGTTAGAGATTACCATTATTA
587783812	169976	NM_000252.2(MTM1):c.232-1G>A	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150614588	ATACTGACTACTGTATTTTTGTCCATTACAGGATTCTTCTCTAATACTTGATGTTCCTCTG
193303018	24639	m.3242G>A	MT-TL1	Sep 19, 2013	MeSH:D009190,MedGen:C0026986,OMIM:614286	Myelodysplastic syndrome	somatic	MT	3242	CACCCAAGAACAGGGTTTGTTAAGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTT
886039784	260476	NR_033294.1(SNORD118):n.57G>A	SNORD118	Oct 10, 2016	MedGen:C3281200,OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	germline	17	8173532	GTTCCTCCTCCGGAGGGCAGATTAGAACATGATGATTGGAGATGCATGAAACGTGATTAAC
1050086	24825	NM_000354.5(SERPINA7):c.571G>A (p.Asp191Asn)	SERPINA7	Sep 08, 2016	na	Thyroxine-binding globulin, slow	germline	X	106036488	ACCAAAGGGAAAGTTGTGGGTCTAATTCAAGACCTCAAGCCAAACACCATCATGGTCTTAG
387906819	39170	NM_005257.5(GATA6):c.1367G>A (p.Arg456His)	GATA6	Dec 11, 2011	MedGen:C1838780,OMIM:600001	Pancreatic agenesis and congenital heart disease	germline	18	22181517	ACTGTCACACCACAACTACCACCTTATGGCGCAGAAACGCCGAGGGTGAACCCGTGTGCAA
150841256	438959	NM_001177317.1(SLC34A3):c.448+1G>A	SLC34A3	Sep 25, 2017	MedGen:CN517202	not provided	germline	9	137232928	CCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGG
869312977	226998	NM_007214.4(SEC63):c.452+1G>A	SEC63	-	Human Phenotype Ontology:HP:0006557,MedGen:C0158683,OMIM:174050,SNOMED CT:72925005	Congenital cystic disease of liver	germline	6	107921796	GTTCATGAGGATAGCAAAAGCTTATGCTGCGTAAGTATCAGGATCCATTACAAATTTTTAA
747806672	191278	NM_022336.3(EDAR):c.1144G>A (p.Gly382Ser)	EDAR	May 28, 2015	MedGen:C0406702,OMIM:224900,Orphanet:ORPHA248,SNOMED CT:27025001;MedGen:CN517202	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;not provided	germline	2	108897110	AAAACGTGGCGCCACCTCGCCGAGAGCTTCGGCCTGAAGAGGGATGAGATTGGGGGCATGA
121918660	27781	NM_001768.6(CD8A):c.331G>A (p.Gly111Ser)	CD8A	Jul 01, 2001	MedGen:C1837065,OMIM:608957,Orphanet:ORPHA169085	Cd8 deficiency, familial	germline	2	86790400	ACCCTGAGCGACTTCCGCCGAGAGAACGAGGGCTACTATTTCTGCTCGGCCCTGAGCAACT
1131691822	421923	NM_001844.4(COL2A1):c.655G>A (p.Gly219Arg)	COL2A1	May 19, 2017	MedGen:CN517202	not provided	germline	12	47995763	TTGACCTGGTATCCTCATTTTACTTTTTAGGGGCCTCAAGGATTTCAAGGCAATCCTGGTG
398123665	99901	NM_001918.3(DBT):c.251G>A (p.Trp84Ter)	DBT	Aug 23, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	1	100235436	AAGGGATTAGAGAAGTAACTGTTAAAGAATGGTAAGTGAATCTGAAAAAAGCTCTTAAGTA
121908086	19087	NM_000547.5(TPO):c.1943G>A (p.Arg648Gln)	TPO	Mar 01, 1999	MedGen:C1291299,OMIM:274500,SNOMED CT:124204003	Deficiency of iodide peroxidase	germline	2	1493976	GCTTAGCTGAAAACTTCCTCCCCAGGGCTCGGACAGGGCCCCTGTTTGCCTGTCTCATTGG
28934886	15969	NM_000404.3(GLB1):c.1370G>A (p.Arg457Gln)	GLB1	Aug 01, 1991	MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257	Gangliosidosis GM1 type 3	germline	3	33016818	CCCCACAGATCCCCCAGGGAGTCCTTGAGCGAAACAATGTGATCACTCTGAACATAACAGG
886039542	260018	NM_001844.4(COL2A1):c.2833G>A (p.Gly945Ser)	COL2A1	Mar 14, 2016	MedGen:CN517202	not provided	germline	12	47978659	AGCGGCCCCCCTGGCCGAGCTGGTGAACCCGGCCTCCAAGGTCCTGCTGGACCCCCTGGCG
587779699	107206	NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188998312	GTGGTCCTCCAGGAGAAAATGGAAAACCTGGGGAACCAGTAAGTTACGTTTCATTATTCAA
113994129	16135	NM_000642.2(AGL):c.2039G>A (p.Trp680Ter)	AGL	Jun 26, 2017	MedGen:C1968740;MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008;MedGen:CN517202	Glycogen storage disease IIIb;Glycogen storage disease type III;not provided	germline	1	99881329	TGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGG
-1	439484	NM_001284214.1(TRIP12):c.3401+1G>A	TRIP12	Nov 06, 2017	MedGen:CN593636,OMIM:617752	MENTAL RETARDATION, AUTOSOMAL DOMINANT 49	germline	2	229798874	TGCCTCAAAGGATACCATCTCCAATAATAGGTGAAGTGGGGGGAGTTTTATGTTTCTTCTA
747119727	204976	NM_058004.3(PI4KA):c.5560G>A (p.Asp1854Asn)	PI4KA	Jul 01, 2015	MedGen:C4225295,OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	germline	22	20713292	TGGCAGGCAGCCATCTTCAAGGTGGGAGACGACTGCCGGCAGGTAAGCAGGGTCAGGCCTC
182135982	212289	NM_153240.4(NPHP3):c.1817G>A (p.Trp606Ter)	NPHP3	Apr 15, 2015	MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008	Nephronophthisis	germline	3	132699988	CTGCTAAGCTTCTGGAAGAATTTCCACGTTGGCTGGAAAAACTCTCTGCTCGTCATCAAGG
72549405	16253	NM_032581.3(FAM126A):c.51+1G>A	FAM126A	Nov 16, 2010	MedGen:C1864663,OMIM:610532,SNOMED CT:702379005	Hypomyelination and Congenital Cataract	germline	7	22991060	GTTGTGGAGGAATGGTTGTCAGAGTTTAAGGTAATATTTACTGTTCTACTATAGTAATTAT
773470671	227164	NM_017909.3(RMND1):c.830+1G>A	RMND1	Dec 22, 2015	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	6	151427481	AAATGAAGAACTTAACTACATAAAAATAGAGTAAGCAACTTTTCATCAAATTTATGAAAGG
62514950	108582	NM_000277.2(PAH):c.809G>A (p.Arg270Lys)	PAH	Jul 05, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102852848	TCCGAGTCTTCCACTGCACACAGTACATCAGACATGGATCCAAGCCCATGTATACCCCCGA
121913667	28934	NM_005378.5(MYCN):c.231G>A (p.Trp77Ter)	MYCN	Sep 01, 2008	MedGen:C0796068,OMIM:164280	Feingold syndrome 1	germline	2	15942295	CGCGGAGCACAGCTCCGAGCCCCCGAGCTGGGTCACGGAGATGCTGCTTGAGAACGAGCTG
750219200	402564	NM_002878.3(RAD51D):c.803G>A (p.Trp268Ter)	RAD51D	Jul 07, 2017	MedGen:C3280345,OMIM:614291;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome;not provided	germline	17	35101301	GGAGGCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCT
267607552	77714	NM_170707.3(LMNA):c.1380+1G>A	LMNA	May 28, 2014	MedGen:CN517202	not provided	germline	1	156136437	TTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATAC
119482081	19839	NM_006415.3(SPTLC1):c.398G>A (p.Cys133Tyr)	SPTLC1	Mar 07, 2013	MedGen:C0020071,OMIM:162400,Orphanet:ORPHA36386	Neuropathy hereditary sensory and autonomic type 1	germline	9	92080045	CATCTCTAAAGAAGTATGGCGTGGGGACTTGTGGACCCAGAGGATTTTATGGCACATTTGG
121434423	21787	NM_001492.5(GDF1):c.800G>A (p.Cys267Tyr)	GDF1	Nov 01, 2007	Human Phenotype Ontology:HP:0001719,MedGen:C0013069,Orphanet:ORPHA3426,SNOMED CT:7484005	Double outlet right ventricle	germline	19	18868916	CCGTGTTGGGCGGCGGCCCCGGGGGCGCTTGTCGCGCGCGGCGGCTGTACGTGAGCTTCCG
120074174	18214	NM_000187.3(HGD):c.808G>A (p.Gly270Arg)	HGD	Dec 18, 2015	MedGen:C0002066,OMIM:203500,Orphanet:ORPHA56	Alkaptonuria	germline;unknown	3	120641660	GTCTCCCCGTTCAATGTTGTGGCCTGGCACGGGAATTATACACCCTACAAGTACAACCTGA
397508561	68409	NM_000492.3(CFTR):c.3435G>A (p.Trp1145Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117614680	AGCCATGAATATCATGAGTACATTGCAGTGGGCTGTAAACTCCAGCATAGATGTGGATAGC
121908857	21511	NM_001098484.2(SLC4A4):c.1661G>A (p.Arg554His)	SLC4A4	Nov 01, 1999	MedGen:C1970309,OMIM:604278,Orphanet:ORPHA93607	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	germline	4	71472728	GGGACAATAATTTTGACTATTTGGAGTTTCGCCTTTGGATTGGCCTGTGGTCCGCCTTCCT
387906334	20278	NM_007375.3(TARDBP):c.*697G>A	TARDBP	Nov 01, 2009	MedGen:C2677565,OMIM:612069;MedGen:C3150170	Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED	germline	1	11023351	TCTTTGACGGTGGGTGTCCCATTTTTATCCGCTACTCTTTATTTCATGGAGTCGTATCAAC
730882193	48744	NM_004655.3(AXIN2):c.1989G>A (p.Trp663Ter)	AXIN2	Mar 13, 2013	MedGen:C1837750,OMIM:608615,Orphanet:ORPHA300576	Oligodontia-colorectal cancer syndrome	germline	17	65536472	AGGCGAACGAGCCAGCCGGCACCATCTGTGGGGGGGCAACAGCGGGCACCCCCGCACCACC
121434592	29022	NM_005163.2(AKT1):c.49G>A (p.Glu17Lys)	AKT1	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;MedGen:C0858252,Orphanet:ORPHA213528;MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;MeSH:D015179,MedGen:CN236642;MedGen:C0279763;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MeSH:D008577,MedGen:C0025284,Orphanet:ORPHA252025;Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;Human Phenotype Ontology:HP:0002669,MeSH:D012516,MedGen:C0029463,OMIM:259500,Orphanet:ORPHA668,SNOMED CT:21708004;Human Phenotype Ontology:HP:0100787,MeSH:D011471,MedGen:C0033578;MedGen:C0085261,OMIM:176920,Orphanet:ORPHA744,SNOMED CT:23150001;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Breast adenocarcinoma;Carcinoma of colon;Colorectal Neoplasms;Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation;Hepatocellular carcinoma;Malignant melanoma of skin;Meningeal Neoplasms;Neoplasm of ovary;Neoplasm of the breast;Neoplasm of the thyroid gland;Non-small cell lung cancer;Osteosarcoma;Prostate neoplasm;Proteus syndrome;Small cell lung cancer;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	somatic	14	104780214	GTGGCTCTCACCACCCGCACGTCTGTAGGGGAGTACATCAAGACCTGGCGGCCACGCTACT
-1	431292	NM_012160.4(FBXL4):c.513-1G>A	FBXL4	Aug 10, 2017	MedGen:C3809592,OMIM:615471,Orphanet:ORPHA369897	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	germline	6	98917720	TGTATTATAGGGAAGTTTCTTTTTTTGGCAGATGGGAGATTCTTTGGTCAGAGAGACCTAC
763837297	426741	NM_001244808.1(FOXP1):c.869+1G>A	FOXP1	Mar 20, 2017	MedGen:C3150923,OMIM:613670	Mental retardation with language impairment and with or without autistic features	de novo	3	71041327	GCTCTCAGTCCACACTCCCAAAAGGGAAAGGTAGGAACCAGCCACTGAGATGGGTCCAAAA
281874683	35801	NM_000495.4(COL4A5):c.1904G>A (p.Gly635Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598826	TCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGTGGCAGGAAATCCAGGCCA
878854488	238788	NM_002354.2(EPCAM):c.429G>A (p.Trp143Ter)	EPCAM	Dec 23, 2015	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47375237	AACTGACATTGTCTTTTTACTTTATAGCTGGATCATCATTGAACTAAAACACAAAGCAAGA
119103251	17338	NM_005609.3(PYGM):c.613G>A (p.Gly205Ser)	PYGM	Sep 21, 2016	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009;MedGen:CN517202	Glycogen storage disease, type V;not provided	germline;unknown	11	64757826	CCCGAGTTCACGCTACCTGTGCACTTCTACGGCCATGTGGAGCACACCAGCCAGGGTGCCA
1064793941	408472	NM_015531.5(C2CD3):c.3910+1G>A	C2CD3	Jul 21, 2015	MedGen:CN517202	not provided	germline	11	74085617	TTGCTGTCTATCATGAAAATACCAAGTCAGGTGAGCACCATATGACTTGTCACAATCAAAA
267606555	19926	NM_003977.3(AIP):c.469-1G>A	AIP	Jun 21, 2012	MedGen:C0346302,OMIM:102200,Orphanet:ORPHA96256,SNOMED CT:254957009	Somatotroph adenoma	germline	11	67490037	GCCCCGCTGTGATATGCCCCATGCCCTGCAGGTGGAGAGCCCTGGCACGTACCAGCAGGAC
267606862	18975	NM_000520.5(HEXA):c.1176G>A (p.Trp392Ter)	HEXA	Jan 01, 1992	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72346681	GATTCAGCCAGACACAATCATACAGGTGTGGCGAGAGGATATTCCAGTGAACTATATGAAG
281875376	39543	NM_005857.4(ZMPSTE24):c.1349G>A (p.Trp450Ter)	ZMPSTE24	Nov 01, 2010	MedGen:C1837756,OMIM:608612,Orphanet:ORPHA90154;MedGen:CN517202	Mandibuloacral dysplasia with type B lipodystrophy;not provided	germline	1	40292590	AAGATAACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCTCATCC
-1	442372	NM_033380.2(COL4A5):c.1258G>A (p.Gly420Arg)	COL4A5	Jan 13, 2017	MedGen:CN517202	not provided	germline	X	108591150	GATGAAGGACCACCTGGAATTTCCATTCCTGGACCTCCTGGACTTGACGGACAGCCTGGGG
369255297	39954	NM_025099.5(CTC1):c.2611G>A (p.Val871Met)	CTC1	Jan 22, 2012	MedGen:C2677299,OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts 1	germline	17	8231334	GAGCTTGAAAGCTCCCAGGATATCCAAGATGTGCTGGATGCAAACAAGTCATTGCCTGAAT
61751407	105292	NM_000350.2(ABCA4):c.5714+5G>A	ABCA4	May 09, 2017	MedGen:C1858806,OMIM:604116;MedGen:C1866422,OMIM:601718;MedGen:C0271093,Orphanet:ORPHA827,SNOMED CT:70099003;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Cone-rod dystrophy 3;Retinitis pigmentosa 19;Stargardt disease;Stargardt disease 1;not provided	germline;unknown	1	94010795	CAGCGCCACTTCTTCCTCTCCCAATGGTACGTCCATGCCACACCCTGGGCCAGTGGGCAGC
879253722	33388	NM_000080.3(CHRNE):c.344+1G>A	CHRNE	Aug 01, 2000	MedGen:C1837091,OMIM:608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	germline	17	4902216	GTGGCTGCCAGAGATTGTGCTGGAAAACAAGTGAGAACCGGGCCAGACGCCAGGCTGGAGG
45517399	58587	NM_000548.4(TSC2):c.5160+1G>A	TSC2	Feb 20, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2088140	GTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGG
1085307316	414264	NM_001204.6(BMPR2):c.1228G>A (p.Gly410Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532684	GCTTTGAAACAAGTAGACATGTATGCTCTTGGACTAATCTATTGGGAGATATTTATGAGAT
387906409	24238	NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser)	ACADSB	Nov 01, 2000	MedGen:C1864912,OMIM:610006,Orphanet:ORPHA79157,SNOMED CT:444838008	Deficiency of 2-methylbutyryl-CoA dehydrogenase	germline	10	123053160	GTGGAGAAATACTTCCGAGATGCAAAGATTGGTAAATAGATTTTTTTTTTTTACATTTTAT
773223671	472480	NM_000465.3(BARD1):c.1905G>A (p.Trp635Ter)	BARD1	Jun 09, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214730507	GTTTGCTTTAATTCTTGTGTTTTTGTCAGGGGTAAAAGCATGTCTACGAAGAAAAGTATGT
137852810	33411	NM_000747.2(CHRNB1):c.865G>A (p.Val289Met)	CHRNB1	Apr 05, 2017	MedGen:C4225374,OMIM:616313	Myasthenic syndrome, congenital, 2a, slow-channel	germline	17	7454341	CTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTAC
387906863	39323	NM_003560.3(PLA2G6):c.1904G>A (p.Arg635Gln)	PLA2G6	Oct 12, 2010	MedGen:C2751842,OMIM:612953,Orphanet:ORPHA199351	Parkinson disease 14	germline	22	38115657	CCCTAGACCAGCTGGTGTGGCGGGCGGCCCGAAGCAGCGGGGCAGCTCCTACTTACTTCCG
370523609	227889	NM_000016.5(ACADM):c.600-18G>A	ACADM	Nov 26, 2016	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline;unknown	1	75745788	TGTTATTTGCCGATATTATCACCATTATCCGGTATGTGTATCTCTTAGGTATTTTTTATTG
1060499658	384429	NM_000489.4(ATRX):c.6122G>A (p.Ser2041Asn)	ATRX	Mar 24, 2014	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	maternal	X	77589929	CACTAATCTGTTTTTTTAGCCTTGTTTTCAGCCAGTCCCTCATATCTCTGGACTTGATTGA
267607096	16181	NM_001142617.1(STRA6):c.69G>A (p.Trp23Ter)	STRA6	Mar 01, 2009	MedGen:C1832661,OMIM:601186,Orphanet:ORPHA2470	Microphthalmia syndromic 9	germline	15	74202199	GGCCACAGAGGACTACTCCTATGGCAGCTGGTACATCGATGAGCCCCAGGGGGGCGAGGAG
-1	485712	NM_001252634.1(THRB):c.1378G>A (p.Glu460Lys)	THRB	Jun 15, 2012	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24122892	CTCTTCCCCCCTTTGTTCTTGGAAGTGTTCGAGGATTAGACTGACTGGATTCATTCTCATA
112832879	366840	NM_033084.4(FANCD2):c.990-1G>A	FANCD2	Jan 11, 2017	MedGen:CN517202	not provided	germline	3	10043483	GAGTAATTTTTTTCCTCTCTGCTACTTGTAGTTCCTCAGGAAATCAAGAAAGCAGCGGTCA
606231459	171255	NM_001543.4(NDST1):c.1831G>A (p.Gly611Ser)	NDST1	Dec 03, 2014	MedGen:C4015283,OMIM:616116	Mental retardation, autosomal recessive 46	germline	5	150541651	TGTGACCGCTTCCCAAAGCTCCTCATCATCGGCCCCCAGAAAACAGGCAGGTCTCTCTGCT
80338789	34007	NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)	SCN4A	Sep 01, 2016	MedGen:C3714580,OMIM:170400;MedGen:C2750061,OMIM:613345;MedGen:CN517202	Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2;not provided	germline	17	63947091	TGGGACCCATCAAATCCCTGCGGACACTGCGGGCCCTGCGTCCCCTGAGGGCACTGTCCCG
28939082	20119	NM_015560.2(OPA1):c.899G>A (p.Gly300Glu)	OPA1	Oct 01, 2000	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009	Dominant hereditary optic atrophy	germline	3	193637980	AGGTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCA
72552302	103209	NM_000531.5(OTC):c.77+5G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38352778	CACAACTTCATGGTTCGAAATTTTCGGTAAGTGATGGTCAGAGACTTGGGTTTGATTTAGG
121918396	32901	NM_000041.3(APOE):c.683G>A (p.Trp228Ter)	APOE	Nov 01, 1992	MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005	Familial type 3 hyperlipoproteinemia	germline	19	44908979	GCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGA
181396238	36442	NM_000060.4(BTD):c.1432G>A (p.Ala478Thr)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645288	TTCGACACCTGTGGACAGGAAATCACAGAGGCCACGGGGATATTTGAGTTTCACCTGTGGG
104894139	16827	NM_000102.3(CYP17A1):c.1073G>A (p.Arg358Gln)	CYP17A1	Oct 01, 1997	MedGen:C3277849	Isolated 17,20-lyase deficiency	germline	10	102832577	ACCGTCTCCTCCTGCTGGAGGCCACCATCCGAGAGGTGCTTCGCCTCAGGCCCGTGGCCCC
104894001	20256	NM_018965.3(TREM2):c.132G>A (p.Trp44Ter)	TREM2	Sep 01, 2002	MedGen:C1857316,OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	germline	6	41161522	GTCTTGCCCCTATGACTCCATGAAGCACTGGGGGAGGCGCAAGGCCTGGTGCCGCCAGCTG
1057520529	378413	NM_014009.3(FOXP3):c.1190G>A (p.Arg397Gln)	FOXP3	Mar 11, 2015	MedGen:CN517202	not provided	germline	X	49251440	ACAACCTGAGTCTGCACAAGTGCTTTGTGCGGGTGGAGAGCGAGAAGGGGGCTGTGTGGAC
587779691	107198	NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997166	TTAGTAAATACCGACCACTTCTTCTTTAGGGTGCTCCTGGTAAGAATGGAGAACGAGGTGG
1057518714	361196	NM_006412.3(AGPAT2):c.503G>A (p.Trp168Ter)	AGPAT2	May 01, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline;paternal	9	136676670	AGGCTCTCCTCTCCCTGCAGCTCAAAGTGTGGATCTATCCCGAGGGTACTCGCAACGACAA
587782703	420751	NM_003000.2(SDHB):c.72+1G>A	SDHB	Jun 28, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	17053947	GCCACAACCCTTGGCGGAGCCTGCCTGCAGGTGAGTCCTGGAGCCTCAGAGAGGGAAAAGT
121918531	23990	NM_005587.3(MEF2A):c.848G>A (p.Gly283Asp)	MEF2A	Dec 15, 2004	na	Coronary artery disease/myocardial infarction	germline	15	99690412	TTCGAGTTGTCATCCCCCCTTCAAGCAAGGGCATGATGCCTCCACTAGTAAGTTGAACCTT
773126191	40160	NM_001004334.3(GPR179):c.1784+1G>A	GPR179	Feb 10, 2012	MedGen:C3281215,OMIM:614565	Congenital stationary night blindness, type 1E	germline	17	38334703	ACTGCTTTCCGCTGCCTTCCACACAGCCAGGTGAGGACGGACTCACCTCCCCACACCCCCT
121908791	68217	NM_000492.3(CFTR):c.273+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202	Cystic fibrosis;not provided	germline;unknown	7	117509143	ATGTTCTATGGAATCTTTTTATATTTAGGGGTAAGGATCTCATTTGTACATTCATTATGTA
886039489	260282	NM_004484.3(GPC3):c.175+1G>A	GPC3	Jul 31, 2015	MedGen:CN517202	not provided	germline	X	133985274	TCAAGTGGGTGCCAGAAACTCCCGTGCCAGGTGAGGAGGGGTCCCTTGAGCGTGCCTAGCG
104886189	35884	NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg)	COL4A5	Sep 02, 2016	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108620354	CCAGGTGAAAGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGAT
28931601	32027	NM_000165.4(GJA1):c.286G>A (p.Val96Met)	GJA1	Jun 01, 2004	MedGen:C0812437,OMIM:164200	Oculodentodigital dysplasia	germline	6	121447133	TCTGTACCCACACTCTTGTACCTGGCTCATGTGTTCTATGTGATGCGAAAGGAAGAGAAAC
730880131	246028	NM_000527.4(LDLR):c.1186+1G>A	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11111640	ACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGG
312262808	49482	NM_003611.2(OFD1):c.111G>A (p.Lys37=)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13735346	TAAGGATCGGGGTATACTGGATACACTCAAGGTATCGGATTTAGGCGTATCTGTGTCAGCT
118203438	58254	NM_000368.4(TSC1):c.737+1G>A	TSC1	Dec 23, 2014	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	9	132921362	ATCCAAGGACCATGAACTGGACCCTCGAAGGTATAGAAACTAGTGTCAAAATTTTAAAGAA
397514994	441782	NM_000548.4(TSC2):c.1946+1G>A	TSC2	Jun 23, 2017	MedGen:CN517202	not provided	germline	16	2071617	GTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGG
398122925	48489	NM_001142339.2(GNAL):c.463G>A (p.Glu155Lys)	GNAL	Jan 01, 2013	MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466	Dystonia 25	germline	18	11824987	GGCGTGAAGGCATGCTTTGAGAGATCCAACGAATACCAGCTGATTGACTGTGCACAATAGT
397518475	94331	NM_006208.2(ENPP1):c.530G>A (p.Cys177Tyr)	ENPP1	Oct 03, 2013	MedGen:C3809781,OMIM:615522,Orphanet:ORPHA324561	Cole disease	germline	6	131851241	CAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAACTACAGTTCTGTGTGTCAAGGTCA
398123763	100162	NM_003494.3(DYSF):c.1053+1G>A	DYSF	Feb 24, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71520905	TGTGTGCTGGGGCCTGGGGACGAAGCGCCTGTGAGTACATTTCCCTGGGTCTTCCTTACGG
104894742	24880	NM_000044.4(AR):c.4G>A (p.Glu2Lys)	AR	Sep 15, 1996	MedGen:C0268301,OMIM:312300,Orphanet:ORPHA90797,SNOMED CT:58672003	Partial androgen insensitivity syndrome	germline	X	67545150	AGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACC
1060500376	402353	NM_000267.3(NF1):c.6641+1G>A	NF1	Dec 12, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31337881	GCTGGACCAGTGGACAGAACTAGCTCAAAGGTATGTCCTAAATTAAATATAAGTTGTAAAA
-1	485940	NM_000280.4(PAX6):c.1183+1G>A	PAX6	Mar 03, 2017	MedGen:C0344542,OMIM:106210	Aniridia 1	unknown	11	31790709	CAATGGGCACCTCGGGCACCACTTCAACAGGTGAGCCACTGCTTTCTGCAGGCTGCACAGA
866994863	39236	NM_001553.2(IGFBP7):c.830-1G>A	IGFBP7	Aug 12, 2011	MedGen:C4016816	Retinal arterial macroaneurysm with supravascular pulmonic stenosis	germline	4	57031337	CTAATTTTTATCTTTTTTTTTTTTTAAACAGGTGAAGGTGCCGAGCTATAAACCTCCAGAA
869025327	223753	NM_000091.4(COL4A3):c.3410G>A (p.Gly1137Asp)	COL4A3	Feb 02, 2016	MedGen:C0241908,OMIM:141200,SNOMED CT:236421001	Benign familial hematuria	inherited	2	227294562	AAGGCCTCCTGGGCCCTCCAGGAATCAGAGGCCCTCCAGGTTTCATTTTTGTACTTTCTCT
767041069	358303	NM_000520.5(HEXA):c.1330+1G>A	HEXA	Oct 04, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Tay-Sachs disease;not provided	germline;unknown	15	72346526	TCTACATAGTGGAACCCCTGGCATTTGAAGGTGAAAGCAGAGAGCTCTCCTTGCTAACCAA
587779434	106866	NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004294	CAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCAT
876657728	229705	NM_138691.2(TMC1):c.1676G>A (p.Trp559Ter)	TMC1	Jun 04, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	9	72805491	TTGTGAGGTTTTGCAATTATTGCTGGTGCTGGGACTTGGAGTATGGATATGTAAGTATGAT
72554352	103059	NM_000531.5(OTC):c.316G>A (p.Gly106Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38381359	TTTTTTATTGTAGGCTTTGCACTTCTGGGAGGACATCCTTGTTTTCTTACCACACAAGATA
864309502	215002	NM_007126.3(VCP):c.290G>A (p.Gly97Glu)	VCP	Jan 01, 2015	MedGen:C4225244,OMIM:616687,Orphanet:ORPHA435387	Charcot-Marie-Tooth disease, axonal, type 2y	germline	9	35067903	TTGTTCGGAATAACCTTCGTGTACGCCTAGGGGATGTCATCAGGTGTGTGTGGGGTTTTTG
794728477	407066	NM_000238.3(KCNH2):c.472+1G>A	KCNH2	Aug 17, 2015	MedGen:CN517202	not provided	germline	7	150959571	GGGGCCCCCCCACCAGCTGGCTGGCCCCAGGTAAGTGTACTTGCTTTAGGGCAGGCTCAGG
104893969	21158	NM_001075098.3(MOCS1):c.956G>A (p.Arg319Gln)	MOCS1	Dec 01, 1998	MedGen:C1854988,OMIM:252150,Orphanet:ORPHA308386	Molybdenum cofactor deficiency, complementation group A	germline	6	39912289	AGCATTTCTGTGGGACCTGCAACCGCCTGCGAATCACAGCTGATGGGAACCTCAAGGTGAG
786204553	186833	NM_000391.3(TPP1):c.1551+1G>A	TPP1	Dec 29, 2015	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349;MedGen:CN517202	Ceroid lipofuscinosis neuronal 2;not provided	germline;unknown	11	6614865	TACCAGCAGCATGGGGCAGGACTCTTTGATGTAAGTATGGAAGGGAAGGGTGTGGACGTTT
587783645	169012	NM_004004.5(GJB2):c.158G>A (p.Cys53Tyr)	GJB2	Feb 08, 2013	Human Phenotype Ontology:HP:0000365,MedGen:C0018772	Hearing impairment	germline	13	20189424	TGTGGGGAGATGAGCAGGCCGACTTTGTCTGCAACACCCTGCAGCCAGGCTGCAAGAACGT
201820739	290205	NM_000055.3(BCHE):c.428G>A (p.Gly143Asp)	BCHE	Dec 23, 2016	MedGen:C1283400,OMIM:177400,Orphanet:ORPHA132,SNOMED CT:360589003	Deficiency of butyrylcholine esterase	germline;unknown	3	165830606	AAAATGCCACTGTATTGATATGGATTTATGGTGGTGGTTTTCAAACTGGAACATCATCTTT
796051887	199917	NM_000417.2(IL2RA):c.497G>A (p.Ser166Asn)	IL2RA	Mar 01, 2013	MedGen:C1853392,OMIM:606367,Orphanet:ORPHA169100	Interleukin 2 receptor, alpha, deficiency of	germline	10	6021564	ACAGGGCTCTACACAGAGGTCCTGCTGAGAGCGTCTGCAAAATGACCCACGGGAAGACAAG
121907983	18918	NM_000521.3(HEXB):c.1514G>A (p.Arg505Gln)	HEXB	Sep 08, 1993	MedGen:C1849320	Sandhoff disease, adult type	germline	5	74720648	GGGGGATGTGTGATTTAAATTTTAGGCCTCGGGCAAGTGCTGTTGGTGAGAGACTCTGGAG
121434643	23766	NM_005267.4(GJA8):c.139G>A (p.Asp47Asn)	GJA8	Mar 01, 2011	MedGen:C1861828,OMIM:116200	Cataract 1	germline	1	147908094	CTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCC
-1	439458	NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys)	KRT83	Nov 02, 2017	MedGen:C0546966,OMIM:158000,Orphanet:ORPHA573,SNOMED CT:69488000	Beaded hair	germline	12	52315903	ATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCAACCCAGCCCTA
730882241	181401	NM_022786.2(ARV1):c.565G>A (p.Gly189Arg)	ARV1	Jan 13, 2015	Human Phenotype Ontology:HP:0000618,MedGen:C0456909;MedGen:C4310762,OMIM:617020;Human Phenotype Ontology:HP:0002180,MedGen:C0027746	Blindness;Epileptic encephalopathy, early infantile, 38;Neurodegeneration	germline	1	230995876	CTGCTGAAAGCATTATTATTATCTAGCTACGGAAAACTCTTGCTGATTCCAGCTGTCATTT
28940880	18830	NM_000372.4(TYR):c.616G>A (p.Ala206Thr)	TYR	Jun 11, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178569	AGAGACATTGATTTTGCCCATGAAGCACCAGCTTTTCTGCCTTGGCATAGACTCTTCTTGT
397515403	48193	NM_020822.2(KCNT1):c.2800G>A (p.Ala934Thr)	KCNT1	Oct 27, 2017	MedGen:C3554195,OMIM:614959;MedGen:CN517202	Early infantile epileptic encephalopathy 14;not provided	germline	9	135779429	CCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCA
80356553	34260	NM_004385.4(VCAN):c.9265+1G>A	VCAN	Jan 07, 2016	MedGen:C0339540,OMIM:143200,SNOMED CT:232064001	Wagner syndrome	germline	5	83542269	CAGTGGAAGGCACGGCAATCTATTTACCAGGTAAGATCACAACATTGATAAATCTGTTTCC
564185858	243827	NM_016824.4(ADD3):c.1100G>A (p.Gly367Asp)	ADD3	Jun 28, 2016	Human Phenotype Ontology:HP:0100021,MedGen:C0007789;MedGen:C4310767,OMIM:617008	Cerebral palsy;Cerebral palsy, spastic quadriplegic, 3	germline	10	110122249	ATATGGGTTCCCATCAAAAATGGAAGGTTGGCGAAATTGAGTTTGAAGGGCTTATGAGGAC
151344623	24127	NM_001287174.1(ABCC8):c.3992-9G>A	ABCC8	Jun 05, 2017	MedGen:C3888018,Orphanet:ORPHA276525;MedGen:C1257959,OMIM:256450,SNOMED CT:360339005;MedGen:CN517202	Familial hyperinsulinism;Persistent hyperinsulinemic hypoglycemia of infancy;not provided	germline;unknown	11	17397055	TGGCCCATGCCTGGTGGCTGAGCCCAGCCCGGCCCCCAGCACCATCGCTGATCCCAAAGAA
1023002894	481660	NM_003494.3(DYSF):c.1053+5G>A	DYSF	Nov 03, 2017	MedGen:CN517202	not provided	germline	2	71520909	TGCTGGGGCCTGGGGACGAAGCGCCTGTGAGTACATTTCCCTGGGTCTTCCTTACGGTCCC
775683960	444895	NM_000372.4(TYR):c.116G>A (p.Trp39Ter)	TYR	Jul 17, 2017	MedGen:CN517202	not provided	germline	11	89178069	ACCTGATGGAGAAGGAATGCTGTCCACCGTGGAGCGGGGACAGGAGTCCCTGTGGCCAGCT
786200950	172076	NC_012920.1:m.5631G>A	MT-TA	Dec 15, 2014	Human Phenotype Ontology:HP:0003737,MedGen:C0162670,OMIM:251900,Orphanet:ORPHA206966	Mitochondrial myopathy	maternal	MT	5631	CCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTAAGCCCTTACTAGA
199473011	78339	NM_000238.3(KCNH2):c.2843G>A (p.Arg948His)	KCNH2	Dec 09, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C3150943,OMIM:613688;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 2;not provided	germline	7	150947728	CTGAGAGCAGTGAGGATGAGGGCCCAGGCCGCAGCTCCAGCCCCCTCCGCCTGGTGCCCTT
267608687	40118	NM_018082.5(POLR3B):c.2303G>A (p.Arg768His)	POLR3B	Aug 02, 2012	MedGen:C3280644,OMIM:614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	germline	12	106457147	CCCATCTTGGTTTCATTTTAGGCTTTGGGCGTTGCCTTGTATATAAAAATGCTAAATGTAC
527236100	152799	NM_000539.3(RHO):c.562G>A (p.Gly188Arg)	RHO	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	3	129532282	TACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGG
397514429	36433	NM_000060.4(BTD):c.1613G>A (p.Arg538His)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645469	CTGGGCTGGTGACGGCGGCTCTCTATGGGCGCTTGTATGAGAGGGACTAGGAAAAGTGTGT
104893815	27550	NM_003242.5(TGFBR2):c.1583G>A (p.Arg528His)	TGFBR2	Feb 08, 2017	MedGen:C1860896,OMIM:614331;MedGen:C2697932,Orphanet:ORPHA60030,SNOMED CT:446263001;MedGen:C2674876,OMIM:610168;MedGen:CN517202	Hereditary nonpolyposis colorectal cancer type 6;Loeys-Dietz syndrome;Loeys-Dietz syndrome 2;not provided	germline;somatic;unknown	3	30691478	CTGAGTGCTGGGACCACGACCCAGAGGCCCGTCTCACAGCCCAGTGTGTGGCAGAACGCTT
121912694	33157	NM_000341.3(SLC3A1):c.542G>A (p.Arg181Gln)	SLC3A1	Apr 01, 1994	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	2	44280827	AAGATTTCAGATATGGTGTTGAAGATTTCCGGGAAGTTGATCCCATTTTTGGAACGATGGA
886039565	259983	NM_207122.1(EXT2):c.539G>A (p.Trp180Ter)	EXT2	Feb 08, 2016	MedGen:CN517202	not provided	germline	11	44109196	TTCTCCTACATTTTAAATTTCTTGACAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAA
-1	468530	NM_001127221.1(CACNA1A):c.1082+1G>A	CACNA1A	Jul 20, 2017	MedGen:C4310716,OMIM:617106;MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	germline	19	13335805	GCTGAACCTTGTGCTGGGTGTGCTGTCAGGGTAAGTTTCTGCTACTCCCCACCCCATCCCA
61759861	24307	NM_001038.5(SCNN1A):c.340G>A (p.Val114Ile)	SCNN1A	Jul 01, 2009	MedGen:C2751666,OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2	germline	12	6374444	CTGCTTTTCGGAGAGTACTTCAGCTACCCCGTCAGCCTCAACATCAACCTCAACTCGGACA
-1	488087	NM_000799.3(EPO):c.530G>A (p.Arg177Gln)	EPO	Mar 16, 2018	MedGen:CN873436,OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE	germline	7	100723081	AACTCTTCCGAGTCTACTCCAATTTCCTCCGGGGAAAGCTGAAGCTGTACACAGGGGAGGC
886037734	178781	NM_001195422.1(GTPBP3):c.1441G>A (p.Glu481Lys)	GTPBP3	Dec 04, 2014	MedGen:C4015447,OMIM:616198,Orphanet:ORPHA444013	Combined oxidative phosphorylation deficiency 23	germline	19	17341599	AAGCAGTCAAAAGACCTGGCCCTGGCGGCAGAGGCGCTGCGGGTGGCCCGGGGTCACCTGA
1057519434	362143	NM_005654.5(NR2F1):c.413G>A (p.Cys138Tyr)	NR2F1	-	MedGen:C3810363,OMIM:615722,Orphanet:ORPHA401777	Bosch-Boonstra-Schaaf optic atrophy syndrome	de novo	5	93585436	GTCCCATCGACCAGCACCACCGCAACCAGTGCCAATACTGCCGCCTCAAGAAGTGCCTCAA
137854616	24438	NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser)	SCN5A	Jan 01, 2004	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144	Brugada syndrome;Brugada syndrome 1	germline	3	38566465	CTGGAGATGCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGT
104894296	22394	NM_006918.4(SC5D):c.632G>A (p.Gly211Asp)	SC5D	Oct 01, 2002	MedGen:C1846421,OMIM:607330,Orphanet:ORPHA46059	Lathosterolosis	germline	11	121307244	TTAATATCTGGACAATTTCCATTCATGACGGTGATTTTCGTGTCCCCCAAATCTTACAGCC
63750582	96584	NM_000251.2(MSH2):c.490G>A (p.Gly164Arg)	MSH2	Apr 22, 2014	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47410217	GCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAG
104893917	19129	NM_000112.3(SLC26A2):c.764G>A (p.Gly255Glu)	SLC26A2	Feb 01, 1996	MedGen:C1850554,OMIM:256050,Orphanet:ORPHA56304	Atelosteogenesis type 2	germline	5	149980357	CTGTCTACCTCTCAGATGCCTTGCTGAGTGGATTTGTCACTGGTGCCTCCTTCACTATTCT
886041505	265019	NM_018896.4(CACNA1G):c.2881G>A (p.Ala961Thr)	CACNA1G	May 17, 2017	MedGen:CN517202	not provided	germline	17	50592063	GGCAACTACGTGCTCTTCAATTTGCTGGTCGCCATTCTGGTGGAGGGCTTCCAGGCGGAGG
1057518940	361051	NM_000540.2(RYR1):c.7111G>A (p.Glu2371Lys)	RYR1	Apr 01, 2014	Human Phenotype Ontology:HP:0002803,MedGen:C0332878;Human Phenotype Ontology:HP:0002194,MedGen:C1837658;Human Phenotype Ontology:HP:0007126,MedGen:C1850794;Human Phenotype Ontology:HP:0004322,MedGen:C0349588	Congenital contracture;Delayed gross motor development;Proximal amyotrophy;Short stature	unknown	19	38499718	CCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCG
3733402	27076	NM_000892.4(KLKB1):c.428G>A (p.Ser143Asn)	KLKB1	Jul 01, 2007	MedGen:C0272339,OMIM:612423,Orphanet:ORPHA749,SNOMED CT:48976006	Prekallikrein deficiency	germline	4	186236880	GTGTTGAAGAATGCCAAAAAAGGTGCACCAGTAACATTCGCTGCCAGTTTTTTTCATATGC
747606537	434166	NM_000384.2(APOB):c.10768G>A (p.Glu3590Lys)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21006100	AACGGAGAACATACAAGCAAAGCCACCCTGGAACTCTCTCCATGGCAAATGTCAGCTCTTG
-1	441157	NM_000089.3(COL1A2):c.1666G>A (p.Gly556Ser)	COL1A2	Mar 08, 2017	MedGen:CN517202	not provided	germline	7	94414222	ATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTG
104893759	28645	NM_001122757.2(POU1F1):c.506G>A (p.Arg169Gln)	POU1F1	Dec 15, 1992	MedGen:C2751608,OMIM:613038	Pituitary hormone deficiency, combined 1	germline	3	87264299	AAAAGTTTGCCAATGAATTTAAAGTGAGACGAATTAAATTAGGTATGTGCTTGTTAAAGGC
1085307229	414165	NM_001204.6(BMPR2):c.418+5G>A	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467694	TCCACCTCCTGACACAACACCACTCAGTAAGTAAAGTAACCAACTTTTCTTTGTATTTCCT
121918607	27991	NM_001161766.1(AHCY):c.252G>A (p.Trp84Ter)	AHCY	Mar 23, 2004	MedGen:C3151058,OMIM:613752,Orphanet:ORPHA88618	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency	germline	20	34292467	GAAGGGCGAAACGGACGAGGAGTACCTGTGGTGCATTGAGCAGACCCTGTACTTCAAGGAC
267606879	16092	NM_022489.3(INF2):c.641G>A (p.Arg214His)	INF2	Jan 01, 2010	MedGen:C2750475,OMIM:613237	Focal segmental glomerulosclerosis 5	germline	14	104703428	TCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAA
780209390	178855	NM_198721.3(COL25A1):c.1144G>A (p.Gly382Arg)	COL25A1	Jan 08, 2015	MedGen:C4015552,OMIM:616219	Fibrosis of extraocular muscles, congenital, 5	germline	4	108863327	AGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAA
1085307584	415769	NM_000444.5(PHEX):c.1880G>A (p.Trp627Ter)	PHEX	Apr 19, 2017	MedGen:CN517202	not provided	germline	X	22221724	GCATGATTAACCAGTATAGCAACTATTATTGGAAGAAAGCTGGCTTAAATGTGAGTACAAC
863223904	212029	NM_000032.4(ALAS2):c.1355G>A (p.Arg452His)	ALAS2	Apr 10, 2014	MedGen:CN517202	not provided	germline	X	55014829	AGGGCCAAGCCCTGAGGCGAGCCCACCAGCGCAATGTCAAGCACATGCGCCAGCTACTCAT
281874743	36098	NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln)	COL4A5	Jun 29, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108692925	AGGGCCAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACTTTTAC
1114167621	416972	NM_000314.6(PTEN):c.210-1G>A	PTEN	Sep 12, 2017	MedGen:CN072330,OMIM:158350;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Cowden syndrome 1;Hereditary cancer-predisposing syndrome;not provided	germline	10	87931045	ACTTTATATCACTTTTAAACTTTTCTTTTAGTTGTGCTGAAAGACATTATGACACCGCCAA
111033573	19657	NM_021830.4(TWNK):c.1075G>A (p.Ala359Thr)	TWNK	Apr 07, 2017	MedGen:C1836439,OMIM:609286;MedGen:C0751651,Orphanet:ORPHA68380	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;Mitochondrial diseases	germline	10	100989285	GGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTAT
387906939	39534	NM_014762.3(DHCR24):c.281G>A (p.Arg94His)	DHCR24	Jul 01, 2011	MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107	Desmosterolosis	germline	1	54883724	AGGGTAGCAAGACCTTCATGTGCACGGGGCGCCCTGGCTGGCTCACTGTCTCACTACGTGT
1060501420	459304	NM_000118.3(ENG):c.782G>A (p.Trp261Ter)	ENG	Jun 19, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004	Osler hemorrhagic telangiectasia syndrome	germline	9	127825265	TCATCCTGCAGGGTCCCCCCTACGTGTCCTGGCTCATCGACGCCAACCACAACATGCAGAT
483352913	94409	NM_001110.3(ADAM10):c.1511G>A (p.Ser504Asn)	ADAM10	Sep 01, 2013	MedGen:C0406811,OMIM:615537,Orphanet:ORPHA178307,SNOMED CT:239133004	Reticulate acropigmentation of Kitamura	germline	15	58621471	AATGCAAACTGAAACCTGGGAAACAGTGCAGGTACCTTGCTAATTTCAGTGATGTTAACAT
121912867	32396	NM_001844.4(COL2A1):c.2320G>A (p.Gly774Ser)	COL2A1	Mar 02, 2017	MedGen:C0542428,Orphanet:ORPHA93297	Hypochondrogenesis	germline	12	47982142	CTCTTCCCTCAGGGTGACGTTGGTGAGAAAGGCCCTGAGGGAGCCCCTGGAAAGGATGGTG
33946267	30331	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	HBB	Jun 26, 2017	na;na;na;MedGen:C0002895,OMIM:603903,Orphanet:ORPHA232,SNOMED CT:127040003;MedGen:C1264000,SNOMED CT:127048005;MedGen:C1264000,SNOMED CT:127048005;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202;MedGen:CN169374	HEMOGLOBIN EGYPT;HEMOGLOBIN O (ARAB);HEMOGLOBIN O (TIBESTI);Hb SS disease;Sickle cell-Hemoglobin O Arab disease;Sickle cell-Hemoglobin O Arab disease;beta Thalassemia;not provided;not specified	germline	11	5225678	GTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATC
398122893	48055	NM_001111.4(ADAR):c.2608G>A (p.Ala870Thr)	ADAR	Jun 27, 2013	MedGen:C3539013,OMIM:615010	Aicardi-goutieres syndrome 6	germline	1	154589817	CAGCCCTCCTTGCTCGGCCGCAAGATTCTGGCCGCCATCATTATGAAAAAAGACTCTGAGG
121912923	32264	NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser)	COL3A1	Dec 21, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188996479	CGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCA
863223317	39684	NM_022137.5(SMOC1):c.664+1G>A	SMOC1	Jan 07, 2011	MedGen:C0599973,OMIM:206920	Anophthalmos with limb anomalies	germline	14	69994481	AACTGAACAACACCAACATAAGAAATTCAGGTAAATAACCTTCCTTGGATTATATATGTAC
118203975	16040	NM_152778.2(MFSD8):c.929G>A (p.Gly310Asp)	MFSD8	Mar 01, 2009	MedGen:C1838571,OMIM:610951,Orphanet:ORPHA228366	Ceroid lipofuscinosis neuronal 7	germline	4	127930752	GGACTCAAGAACAAGCTGTGTTATATAATGGCATAATACTTGCTGCTCTTGGGGTTGAAGC
730880584	179221	NM_000256.3(MYBPC3):c.2995-1G>A	MYBPC3	May 24, 2017	MedGen:CN517202	not provided	germline	11	47333753	AGGTTCAGGGTTAAGCTTTTCCTCCCCTCAGGGCAAGCCCCGGCCTCAGGTGACCTGGACC
147222357	29775	NM_000213.4(ITGB4):c.3793+1G>A	ITGB4	May 25, 2016	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403;MedGen:CN517202	Epidermolysis bullosa junctionalis with pyloric atresia;not provided	germline	17	75751112	TCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACA
1131690902	420514	NM_000321.2(RB1):c.380+1G>A	RB1	Jan 27, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48342715	TACTGAGCTACAGAAAAACATAGAAATCAGGTAAAGTTTCTTGTATAAATATAAGCCTCTG
1114167414	413965	NM_000089.3(COL1A2):c.3008G>A (p.Gly1003Asp)	COL1A2	-	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	unknown	7	94426433	ATCCTTCTGTTTCTTTATAGGGCCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGA
111033247	55164	NM_022124.5(CDH23):c.6049+1G>A	CDH23	Jan 24, 2007	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71790414	GTGGCCTCTTTGACATCAACAGCAGCACCGGTGAGGCCTCTGTGCCACCCAGCACTCCCAG
869025214	214870	NM_017662.4(TRPM6):c.2667+1G>A	TRPM6	Sep 01, 2013	MedGen:C1865974,OMIM:602014,Orphanet:ORPHA30924	Hypomagnesemia 1, intestinal	germline	9	74788613	TTCACCAATGCTATTGAGGTGGTCAGGGAGGTGAGTTATGCCATCTACCTTTATCTTCTGC
121912928	32250	NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu)	COL3A1	Mar 09, 2000	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188996171	CAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCA
111033780	36614	NM_000155.3(GALT):c.871G>A (p.Glu291Lys)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649048	AAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGC
267606625	29345	NM_013227.3(ACAN):c.7249G>A (p.Val2417Met)	ACAN	Feb 12, 2010	Human Phenotype Ontology:HP:0010886,MedGen:C0029421,OMIM:165800,Orphanet:ORPHA2764,SNOMED CT:82562007	Osteochondritis dissecans	germline	15	88872941	GACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGT
80358030	131419	NM_007294.3(BRCA1):c.547+1G>A	BRCA1	Aug 03, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	17	43099774	CTCAAAAGACGTCTGTCTACATTGAATTGGGTAAGGGTCTCAGGTTTTTTAAGTATTTAAT
786205665	190037	NM_178454.5(DRAM2):c.131G>A (p.Ser44Asn)	DRAM2	May 12, 2015	MedGen:CN231743,OMIM:616502;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Cone-rod dystrophy 21;Retinal dystrophy	germline	1	111131424	ACCATATAGACCCGGCTTTACCTTATATCAGGTAAGTGAAATGTATTCTTTGTATAGGAGA
267606734	21081	NM_004273.4(CHST3):c.1114G>A (p.Glu372Lys)	CHST3	Jun 01, 2008	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72008145	CTGCGGGGCCGCTACATGCTGGTGCGCTACGAGGACGTGGCACGCGGGCCGCTGCAGAAGG
1060500629	398597	NM_000218.2(KCNQ1):c.1175G>A (p.Trp392Ter)	KCNQ1	Sep 08, 2016	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007	Long QT syndrome	germline	11	2587616	ATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAG
189234741	431798	NM_001297.4(CNGB1):c.413-1G>A	CNGB1	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	16	57962611	GACTGCCTTTCTGTATTTTCTGACCCTGCAGGGTGCACAGATGAACCCAATGAGGCCCTTG
80357468	68802	NM_007294.3(BRCA1):c.1116G>A (p.Trp372Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;somatic	17	43094415	GAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTT
769301934	172294	NM_198586.2(NHLRC1):c.436G>A (p.Asp146Asn)	NHLRC1	Feb 17, 2017	MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:230425004;MedGen:CN517202	Lafora disease;not provided	germline	6	18122171	CCCAAGACGGGGCGTGTCGTGGTGGTGCACGACGGCAGGAGGCGTGTCAAGATTTTTGACT
80356542	19669	NM_021830.4(TWNK):c.952G>A (p.Ala318Thr)	TWNK	Jul 22, 2010	MedGen:C1849096,OMIM:271245,Orphanet:ORPHA1186	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	germline	10	100989162	TTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCA
121908199	79629	NM_000391.3(TPP1):c.1166G>A (p.Gly389Glu)	TPP1	May 24, 2017	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349;MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007	Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis	germline	11	6615542	CTCCCCTCAGCCCCTATGTCACCACAGTGGGAGGCACATCCTTCCAGGAACCTTTCCTCAT
113403872	16550	NM_000298.5(PKLR):c.1529G>A (p.Arg510Gln)	PKLR	Jun 14, 2016	MedGen:C1849472,OMIM:266200;MedGen:CN517202	Pyruvate kinase deficiency of red cells;not provided	germline	1	155291845	CCCAGGCTGCCCGCCAGGTCCACTTATGCCGAGGAGTCTTCCCCTTGCTTTACCGTGAACC
104894967	24784	NM_003140.2(SRY):c.320G>A (p.Trp107Ter)	SRY	Aug 01, 1994	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787284	AGTGGAAAATGCTTACTGAAGCCGAAAAATGGCCATTCTTCCAGGAGGCACAGAAATTACA
63749810	33140	NM_000484.3(APP):c.2080G>A (p.Asp694Asn)	APP	Mar 25, 2003	MedGen:C2751536,OMIM:605714;MedGen:CN517202	Cerebral amyloid angiopathy, APP-related;not provided	germline	21	25891853	TAATTTGTTTTCAAGGTGTTCTTTGCAGAAGATGTGGGTTCAAACAAAGGTGCAATCATTG
199472978	78244	NM_000238.3(KCNH2):c.1969G>A (p.Gly657Ser)	KCNH2	May 08, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007	Congenital long QT syndrome;Long QT syndrome	germline	7	150951097	CCCCCAGCCCTCATGTATGCTAGCATCTTCGGCAACGTGTCGGCCATCATCCAGCGGCTGT
750079325	427977	NM_024989.3(PGAP1):c.927+1G>A	PGAP1	Feb 03, 2017	MedGen:C4014343,OMIM:615802	Mental retardation, autosomal recessive 42	germline	2	196897130	TTTGATCTTATTGATGCTGATACTAAACAAGTATGTATTTTTAAACTAAAAATTATTTAAA
863225327	214652	NM_000038.5(APC):c.221-1G>A	APC	Jul 19, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112767188	TTGTATAAAAACTTGTTTCTATTTTATTTAGAGCTTAACTTAGATAGCAGTAATTTCCCTG
118192183	76856	NM_000540.2(RYR1):c.14696G>A (p.Gly4899Glu)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38584992	ACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGA
878854691	242448	NM_004360.4(CDH1):c.3G>A (p.Met1Ile)	CDH1	Jul 26, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	germline	16	68737418	TGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTG
-1	481740	NM_023073.3(CPLANE1):c.702G>A (p.Trp234Ter)	CPLANE1	Dec 05, 2017	MedGen:CN517202	not provided	germline	5	37239845	TTTTAGATCATTGCCATACCATGTTCATTGGGCTCAACAAGACTGTCATCTCTGTAGTTTA
794726800	187735	NM_001165963.1(SCN1A):c.4811G>A (p.Trp1604Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	165994187	CTCTACGCCATTATTATTTTACCATTGGATGGAATATTTTTGATTTTGTGGTTGTCATTCT
387906838	39220	NM_004722.3(AP4M1):c.577G>A (p.Glu193Lys)	AP4M1	Sep 21, 2011	MedGen:C2752008,OMIM:612936	Spastic paraplegia 50, autosomal recessive	germline	7	100104125	CAAAAGAATGAAGTTTTTTTGGATGTGGTCGAGAGATTGTCTGTACTGATAGCATCTAATG
140984555	190167	NM_001003811.1(TEX11):c.2092G>A (p.Ala698Thr)	TEX11	May 28, 2015	Gene:100820759,MedGen:C1839841,OMIM:309120	Spermatogenic failure, X-linked, 2	germline	X	70605421	GTTGCAGTTGATCTAGAGCAAGGGAGAAAAGCTTCAACAGCTTTTGAACAGGTAATGTGCA
104894182	28753	NM_001083116.2(PRF1):c.836G>A (p.Cys279Tyr)	PRF1	Dec 03, 1999	MedGen:C1863727,OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	germline	10	70598885	ACGGCAGCATCTCTGCCGAAGCCAAGGCCTGTGAGGAGAAGAAGAAGAAGCACAAGATGAC
28940276	17773	NM_004183.3(BEST1):c.25G>A (p.Val9Met)	BEST1	Sep 01, 1998	MedGen:C0339510,OMIM:153700,Orphanet:ORPHA1243,SNOMED CT:90036004;MedGen:CN517202	Vitelliform macular dystrophy type 2;not provided	germline	11	61951831	CTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCC
120074122	18026	NM_000543.4(SMPD1):c.730G>A (p.Gly244Arg)	SMPD1	Jan 01, 1992	MedGen:C0268243,OMIM:607616,Orphanet:ORPHA77293,SNOMED CT:39390005	Niemann-Pick disease, type B	germline	11	6391795	GGCCTGCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACC
515726180	136325	NM_015713.4(RRM2B):c.48G>A (p.Glu16=)	RRM2B	Apr 07, 2017	MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN187502	Mitochondrial diseases;RRM2B-related mitochondrial disease	germline	8	102238827	GCCGGAAGCGGCCGGGCTGGATCAGGATGAGGTAAATGTTGCTGTTGCGTCTTCCCCCTCA
797045840	207280	NM_002538.3(OCLN):c.1037+5G>A	OCLN	Mar 19, 2015	MedGen:C3489725,OMIM:251290	Band-like calcification with simplified gyration and polymicrogyria	germline	5	69534844	CCAGAGTCTTCCTATAAATCCACGCCGTAAGTAGCATCTCTCTTAGTTTGATAGACTGAGT
916512411	359543	NM_000094.3(COL7A1):c.7078G>A (p.Gly2360Arg)	COL7A1	Jul 26, 2016	MedGen:CN517202	not provided	germline	3	48571269	CTGTTTGCTGGGTTTTCTTAGGGTCAGAAAGGGGCTCCAGGACCCAAAGGTTTCAAGGTAT
1057519389	263783	NM_001005463.2(EBF3):c.488G>A (p.Arg163Gln)	EBF3	Feb 27, 2017	Human Phenotype Ontology:HP:0010867,MedGen:C0004134,SNOMED CT:20262006;Human Phenotype Ontology:HP:0002474,MedGen:C1847610;MedGen:C0557874;MedGen:C4310618,OMIM:617330;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0001252,MedGen:C0026827	Ataxia;Expressive language delay;Global developmental delay;Hypotonia, ataxia, and delayed development syndrome;Intellectual disability;Muscular hypotonia	de novo;germline	10	129957324	AAAACCACTGTTTACAATTGCTCCACAGCCGGTGCTGTGACAAGAAAAGTTGTGGCAATAG
75398746	25833	NM_024921.3(POF1B):c.986G>A (p.Arg329Gln)	POF1B	Jul 01, 2006	MedGen:C1845105,OMIM:300604	Premature ovarian failure 2b	germline	X	85308188	AGATGAGGGGTATGTCTGATAAGTCACTCCGACTAGTGCTGTCCACATTTAGCAACATACG
764160563	244113	NM_198576.3(AGRN):c.5023G>A (p.Gly1675Ser)	AGRN	Jul 14, 2016	MedGen:C0751882,Orphanet:ORPHA590	Congenital myasthenic syndrome	germline	1	1050473	GAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGG
386833889	71086	NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn)	NPHS1	Mar 03, 2017	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003;MedGen:CN517202	Finnish congenital nephrotic syndrome;not provided	germline	19	35845711	CCTTAAACTTGACATGCGTCAGCGTCAGCAGCAATCCGCCGGTCAACTTGTCCTGGGACAA
121434529	33201	NM_000262.2(NAGA):c.973G>A (p.Glu325Lys)	NAGA	Mar 29, 2017	na;MedGen:C1836544,OMIM:609241,Orphanet:ORPHA79279;MedGen:CN517202	Alpha-N-acetylgalactosaminidase deficiency;Schindler disease, type 1;not provided	germline	22	42061052	ACCTTCTGTGCCCAGGAAAAATCTCTCATCGAAGTGTACATGCGGCCTCTGTCCAACAAGG
1064794064	408491	NM_012193.3(FZD4):c.611G>A (p.Cys204Tyr)	FZD4	Aug 27, 2015	MedGen:CN517202	not provided	germline	11	86952145	TGAAAAGGAGCCTGAACTGTGTGCTCAAGTGTGGCTATGATGCTGGCTTATACAGCCGCTC
606231471	171286	NM_004826.3(ECEL1):c.2023G>A (p.Ala675Thr)	ECEL1	Dec 05, 2014	MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457	Arthrogryposis, distal, type 5d	germline;inherited	2	232481123	AACGGGAAACACACGCTTGGGGAGAACATCGCAGATATGGGCGGCCTCAAGCTGGCCTACC
863225313	427258	NM_000038.5(APC):c.1409-1G>A	APC	Jan 23, 2013	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112827107	TGTCTTTTTCCTCTTGCCCTTTTTAAATTAGGGGGACTACAGGCCATTGCAGAATTATTGC
387907303	45848	NM_003036.3(SKI):c.347G>A (p.Gly116Glu)	SKI	Nov 01, 2012	MedGen:C1321551,OMIM:182212,SNOMED CT:83092002	Shprintzen-Goldberg syndrome	de novo;germline	1	2229113	AAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGAT
1060503336	394257	NM_000038.5(APC):c.2096G>A (p.Trp699Ter)	APC	Jun 02, 2016	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112837690	CAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAA
-1	425564	NM_000094.3(COL7A1):c.6164G>A (p.Gly2055Glu)	COL7A1	Mar 18, 2016	MedGen:CN517202	not provided	germline	3	48575355	CAGGCAGGGCTGGGGGTGTGGGAGAGGCAGGAAGGCCAGGAGAGAGGGTGAGGCTGGGGGC
267607649	77794	NM_170707.3(LMNA):c.412G>A (p.Glu138Lys)	LMNA	Oct 24, 2016	MedGen:CN517202	not provided	germline	1	156130672	ATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCAC
142173735	94569	NM_006514.3(SCN10A):c.3910G>A (p.Ala1304Thr)	SCN10A	Nov 20, 2012	MedGen:C3809893,OMIM:615551	Episodic pain syndrome, familial, 2	germline	3	38712340	ATCTTCAGCATCATGGGTGTGAACCTCTTCGCAGGGAAGTTTTGGAGGTGCATCAACTATA
121434227	18454	NM_006147.3(IRF6):c.251G>A (p.Arg84His)	IRF6	Apr 10, 2017	MedGen:C0265259,OMIM:119500,SNOMED CT:66783006;MedGen:CN517202	Popliteal pterygium syndrome;not provided	germline	1	209796476	CTGACCCAGCTAAATGGAAGGCCCAGCTGCGCTGTGCTCTCAATAAGAGCAGAGAATTCAA
755221106	223669	NM_018896.4(CACNA1G):c.5144G>A (p.Arg1715His)	CACNA1G	Jun 02, 2016	na;MedGen:C4225205,OMIM:616795,Orphanet:ORPHA458803	CACNA1G-related disorders;Spinocerebellar ataxia 42	germline;unknown	17	50617560	CCACCATCATCCGCATCATGAGGGTGCTGCGCATTGCCCGAGGTTGGTGCCCAGCCCACGC
59332535	77828	NM_170707.3(LMNA):c.746G>A (p.Arg249Gln)	LMNA	Jun 29, 2017	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:CN043576;MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;MeSH:D009136,MedGen:C0026850,Orphanet:ORPHA98473;MedGen:CN517202	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Charcot-Marie-Tooth disease, type 2;Dilated cardiomyopathy 1A;Muscular dystrophy;not provided	germline	1	156134911	GCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTA
375934856	263874	NM_030813.5(CLPB):c.1915G>A (p.Glu639Lys)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72293576	CGTGTGGTGAACCAGCTGGCAGCAGCCTATGAGCAGGACCTGCTGCCAGGGGGCTGTACTT
121918717	27523	NM_000359.2(TGM1):c.968G>A (p.Arg323Gln)	TGM1	Sep 07, 2017	MedGen:C3536797,OMIM:242300;MedGen:CN517202	Autosomal recessive congenital ichthyosis 1;not provided	germline	14	24259720	GAGGCCGTGGAGACCCAGTCAATGTCTCCCGGGTCATCTCTGCCATGGTGAGCACCCTCAC
104886195	35908	NM_000495.4(COL4A5):c.2804G>A (p.Gly935Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108622712	ATGGCTTGCAGGGTCAGCCAGGACTTCCTGGCCCTACAGGAGAAAAAGGTAGTAAAGGAGA
61752401	104993	NM_000350.2(ABCA4):c.1937+1G>A	ABCA4	Jan 25, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline;unknown	1	94062576	GATGCCCTACCCCTGCTTCGTGGACGATTCGTGAGTCTGAAGTTCGCGATCCTCCTCCATG
397514262	75589	NM_005235.2(ERBB4):c.2780G>A (p.Arg927Gln)	ERBB4	Nov 07, 2013	MedGen:C3715155,OMIM:615515;MedGen:CN517202	Amyotrophic lateral sclerosis 19;not provided	germline	2	211424241	GAGGAAAACCCTATGATGGAATTCCAACGCGAGAAATCCCTGATTTATTAGAGAAAGGAGA
863225200	214303	NM_019892.5(INPP5E):c.1154G>A (p.Cys385Tyr)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136433160	TCTTCATCCGCAGGGACCTCATCTGGTTCTGCTCAGGTGGGCGCGGCTGGAGGGGTGGGCG
587777152	106635	NM_012233.2(RAB3GAP1):c.899+1G>A	RAB3GAP1	Nov 24, 2015	MedGen:C1838625,OMIM:600118;MedGen:CN517202	Warburg micro syndrome 1;not provided	germline	2	135126250	AGGGATCATTGTGGATAATGATGTTTATTCGTAAGTATGTTAAGAGTAGTAGTACACTGAG
786204796	187138	NM_032790.3(ORAI1):c.292G>A (p.Gly98Ser)	ORAI1	Mar 30, 2015	MedGen:C4014557,OMIM:615883	Myopathy, tubular aggregate, 2	germline	12	121627039	GCCTCCAGCCGGACCTCGGCTCTGCTCTCCGGCTTCGCCATGGTGAGCTCCGGCCGCCCTG
794726822	187753	NM_001165963.1(SCN1A):c.4044G>A (p.Met1348Ile)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166002712	TGCCCTTTTAGGAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGG
879253810	214892	NM_000282.3(PCCA):c.863G>A (p.Arg288Lys)	PCCA	Aug 22, 2016	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100268732	AACATGGGAATGCTTTATGGCTTAATGAAAGAGAGTGCTCAATTCAGAGAAGAAATCAGAA
772434460	422075	NM_001171.5(ABCC6):c.1256G>A (p.Arg419Gln)	ABCC6	Jun 03, 2016	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16198103	TGGTCAATCTGGTGTCCGTGGACGTGCAGCGGCTGACCGAGAGCGTCCTCTACCTCAACGG
104893960	21131	NM_004752.3(GCM2):c.187G>A (p.Gly63Ser)	GCM2	May 01, 2005	MedGen:C1832648,OMIM:146200,Orphanet:ORPHA2238	Hypoparathyroidism familial isolated	germline	6	10877296	GATGAGAAGAAGGCACAGCGTCACCTGAGCGGCTGGGCCATGCGCAACACCAACAACCACA
786200951	172075	NC_012920.1:m.5610G>A	MT-TA	Dec 15, 2014	Human Phenotype Ontology:HP:0003737,MedGen:C0162670,OMIM:251900,Orphanet:ORPHA206966	Mitochondrial myopathy	maternal	MT	5610	TAACAGCTAAGGACTGCAAAACCCCACTCTGCATCAACTGAACGCAAATCAGCCACTTTAA
281874689	35844	NM_000495.4(COL4A5):c.2288G>A (p.Gly763Glu)	COL4A5	Aug 27, 2014	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	germline	X	108606785	TTGCATTACCTGGGCCACCTGGGCCACCAGGACTTCCAGGTTTCAAAGGAGCACTTGGTCC
121917846	17961	NM_001033503.2(SAR1B):c.109G>A (p.Gly37Arg)	SAR1B	May 01, 2003	MedGen:C0795956,OMIM:246700,Orphanet:ORPHA71	Chylomicron retention disease	germline	5	134621002	AAACTGGTATTTCTTGGATTGGATAATGCAGGAAAAACAACATTGCTACACATGCTAAAAG
375628463	237193	NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)	ALDH5A1	May 23, 2017	MedGen:C0268631,OMIM:271980,Orphanet:ORPHA22,SNOMED CT:49748000;MedGen:CN517202	Succinate-semialdehyde dehydrogenase deficiency;not provided	germline	6	24515243	CCTGTTCTCGAAAGAATGCCAAGGAAGTAGGGGAGGCAATTTGTACTGATCCTCTGGTGTC
-1	439916	NM_022124.5(CDH23):c.6712+1G>A	CDH23	Jul 01, 2017	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71793641	AGGACGCCTTTGCTGTGAATATCAACACAGGTACAAGGGCCTGCACCCCTCCCACCTCCCT
104894226	27643	NM_005343.3(HRAS):c.38G>A (p.Gly13Asp)	HRAS	Jan 04, 2017	MeSH:D015179,MedGen:CN236642;MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008;MedGen:CN517202	Colorectal Neoplasms;Costello syndrome;not provided	germline;somatic;unknown	11	534285	AATATAAGCTGGTGGTGGTGGGCGCCGGCGGTGTGGGCAAGAGTGCGCTGACCATCCAGCT
483352822	125844	NM_006912.5(RIT1):c.270G>A (p.Met90Ile)	RIT1	Sep 22, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C3809233,OMIM:615355;MedGen:CN517202	Noonan syndrome;Noonan syndrome 8;not provided	germline	1	155904470	AGAGTTTACAGCCATGCGGGACCAGTATATGAGGGCAGGAGAAGGGTTTATCATCTGTTAC
1057517694	359177	NM_032171.2(CEP78):c.893-1G>A	CEP78	Jan 27, 2017	MedGen:C4310657,OMIM:617236	Cone-rod dystrophy and hearing loss	germline	9	78248290	TACTATAATTTCAATTTTTATTTTACTTTAGATCATTCTATGATGAAAGCAGTTATCAAAA
387907306	45851	NM_003036.3(SKI):c.100G>A (p.Gly34Ser)	SKI	Feb 01, 2015	MedGen:C1321551,OMIM:182212,SNOMED CT:83092002;MedGen:CN517202	Shprintzen-Goldberg syndrome;not provided	de novo;germline	1	2228866	TTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGC
121908375	20123	NM_015560.2(OPA1):c.869G>A (p.Arg290Gln)	OPA1	Jan 06, 2016	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009	Dominant hereditary optic atrophy	germline	3	193637280	CCAGTTATAATACGCAAGATCATCTGCCACGGGTATGTGAAAAATTGATAGTGAACTTGCC
377767370	36201	NM_005359.5(SMAD4):c.1527G>A (p.Trp509Ter)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51078335	CATACTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAA
886041081	247444	NM_001151.3(SLC25A4):c.239G>A (p.Arg80His)	SLC25A4	Oct 11, 2017	MedGen:C4310676,OMIM:617184;MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN517202	Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant;Mitochondrial diseases;not provided	de novo;germline	4	185144891	TCTGGAGGGGTAACCTGGCCAACGTGATCCGTTACTTCCCCACCCAAGCTCTCAACTTCGC
1057516988	357530	NM_000441.1(SLC26A4):c.416-1G>A	SLC26A4	Nov 01, 2017	MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN517202	Pendred's syndrome;not provided	germline;unknown	7	107674163	TGATTAATTGTTAGAGACTTTTTTTCCCCAGGACCTTTTCCAGTGGTGAGTTTAATGGTGG
111033675	36496	NM_000155.3(GALT):c.368G>A (p.Arg123Gln)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647696	ATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCT
1064797081	411519	NM_000094.3(COL7A1):c.8278G>A (p.Gly2760Arg)	COL7A1	-	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	Recessive dystrophic epidermolysis bullosa	maternal	3	48566686	GAGAGAGTGGTGGGGGCTCCTGGGGTCCCTGGAGCTCCTGGCGAGAGAGGGGAGCAGGTGA
121909229	22868	NM_000314.6(PTEN):c.389G>A (p.Arg130Gln)	PTEN	Nov 06, 2017	MedGen:C0007112;MedGen:C0278701;MeSH:D015179,MedGen:CN236642;MedGen:CN072330,OMIM:158350;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C0027672,SNOMED CT:699346009;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MeSH:D010051,MedGen:CN236629;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MedGen:C0280630;MeSH:D002583,MedGen:CN236667;MedGen:CN517202	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Colorectal Neoplasms;Cowden syndrome 1;Glioblastoma;Hereditary cancer-predisposing syndrome;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm;Neoplasm of the breast;Ovarian Neoplasms;PTEN hamartoma tumor syndrome;Renal cell carcinoma, papillary, 1;Small cell lung cancer;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Uterine Carcinosarcoma;Uterine cervical neoplasms;not provided	germline;somatic	10	87933148	CAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATT
794726932	190513	NM_006517.4(SLC16A2):c.326G>A (p.Trp109Ter)	SLC16A2	Dec 09, 2014	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	germline	X	74421963	TCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAA
-1	479406	NM_005359.5(SMAD4):c.905G>A (p.Trp302Ter)	SMAD4	May 26, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	18	51059866	AAAATGGAATTTTTGTTGTCTTTTCTTTAGGGCCTGTTCACAATGAGCTTGCATTCCAGCC
-1	459906	NM_000141.4(FGFR2):c.1150G>A (p.Gly384Arg)	FGFR2	Apr 07, 2017	MedGen:CN231480	FGFR2 related craniosynostosis	germline	10	121515254	GACTACCTGGAGATAGCCATTTACTGCATAGGGGTCTTCTTAATCGCCTGTATGGTGGTAA
80356554	34257	NM_004385.4(VCAN):c.4004-1G>A	VCAN	Jan 07, 2016	MedGen:C0339540,OMIM:143200,SNOMED CT:232064001	Wagner syndrome	germline	5	83537006	TTAAGTATTGTGAAAACTCTGTTTTTTTCAGGTCGAATGAGTGATTTGAGTGTAATTGGTC
104893723	20967	NM_006580.3(CLDN16):c.593G>A (p.Gly198Asp)	CLDN16	Jul 02, 1999	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190408314	ATTATTTGTAGCATCCTCCCTTTCTTTCAGGTACCCCAGGAATCATTGGCTCTGTGTGGTA
121917722	15250	NM_000285.3(PEPD):c.551G>A (p.Arg184Gln)	PEPD	Nov 01, 1996	MedGen:C0268532,OMIM:170100	Prolidase deficiency	germline	19	33464060	TTGCTGCTTTGTTCTTCTGTCTCTGAAGCCGAGTGTTTAAGACGGATATGGAGCTGGAGGT
747995722	444896	NM_000372.4(TYR):c.655G>A (p.Glu219Lys)	TYR	Oct 31, 2017	MedGen:CN517202	not provided	germline	11	89178608	CCTTGGCATAGACTCTTCTTGTTGCGGTGGGAACAAGAAATCCAGAAGCTGACAGGAGATG
758577372	224635	NM_000255.3(MUT):c.977G>A (p.Arg326Lys)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49453691	ATATGGAAATAGCAAAGATGAGAGCTGGTAGAAGACTCTGGGCTCACTTAATAGAGAAAAT
67445413	413991	NM_000088.3(COL1A1):c.2596G>A (p.Gly866Ser)	COL1A1	-	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	unknown	17	50189876	GTTGGTGCTCCTGGAGCCAAAGGTGCTCGCGGCAGCGCTGGTCCCCCTGTGAGTATCACCC
121912896	32439	NM_001844.4(COL2A1):c.141G>A (p.Trp47Ter)	COL2A1	Jul 01, 2006	MedGen:C1836080,OMIM:609508	Stickler syndrome, type I, nonsyndromic ocular	germline	12	48000070	TGGGCAGAGGTATAATGATAAGGATGTGTGGAAGCCGGAGCCCTGCCGGATCTGTGTCTGT
386834024	71231	NM_017739.3(POMGNT1):c.1895+1G>A	POMGNT1	Sep 20, 2016	MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001;MedGen:C4310704,OMIM:617123	Muscle eye brain disease;Retinitis pigmentosa 76	germline	1	46189457	GATGGTGGGGGTCCCGGCTTCCCCCTACTCGTGAGTGACCCTTTTCTGCCCTGGGAAACAG
672601368	204420	NM_001244008.1(KIF1A):c.647G>A (p.Arg216His)	KIF1A	Aug 07, 2015	MedGen:C3280283,OMIM:614255;MedGen:C1850055,OMIM:260565,Orphanet:ORPHA2836	Mental retardation, autosomal dominant 9;PEHO syndrome	de novo;germline	2	240785062	CGGCCACCAACATGAATGAGACCAGCAGTCGCTCCCACGCCGTCTTCAACATCATCTTCAC
80338857	34128	NM_001360.2(DHCR7):c.725G>A (p.Arg242His)	DHCR7	Mar 10, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline;unknown	11	71438985	GGTTTGACTTCAAGCTGTTCTTCAATGGGCGCCCCGGGATCGTCGCCTGGACCCTCATCAA
11623	190219	NM_000153.3(GALC):c.169G>A (p.Gly57Ser)	GALC	Jun 06, 2017	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005;MedGen:CN517202	Galactosylceramide beta-galactosidase deficiency;not provided	germline	14	87992996	GACTCCGACGGGCTGGGCCGGGAGTTCGACGGCATCGGCGCGGTCAGCGGCGGCGGGGTGA
786201049	182060	NM_000179.2(MSH6):c.1238G>A (p.Trp413Ter)	MSH6	Dec 04, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47799221	TCAATTCTTGTACTCCTGGGATGAGGAAGTGGTGGCAGATTAAGTCTCAGAACTTTGATCT
104886067	35648	NM_000495.4(COL4A5):c.646G>A (p.Gly216Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108578078	AGATTTTTAAATGGAAACTTCTCTCTCCAGGGGAATATGGGCTTAAATTTCCAGGGACCCA
146013446	359127	NM_176869.2(PPA2):c.514G>A (p.Glu172Lys)	PPA2	Nov 23, 2016	MedGen:C4310663,OMIM:617223;MedGen:C4310664,OMIM:617222	Sudden cardiac failure, alcohol-induced;Sudden cardiac failure, infantile	not provided	4	105437964	TTTGGAGATAATGATCCTATTGATGTTTGCGAAATAGGCTCAAAGGTTTGTTTTATAGACT
267606622	17902	NM_173076.2(ABCA12):c.3535G>A (p.Gly1179Arg)	ABCA12	Nov 01, 2006	MedGen:C0239849,OMIM:242500	Autosomal recessive congenital ichthyosis 4B	germline	2	214990791	TTCAACAACACCAACATTGCAGCTCTGATCGGAAGCCTCATCTACATCATTGCCTTCTTTC
587777514	143246	NM_006439.4(MAB21L2):c.740G>A (p.Arg247Gln)	MAB21L2	Jun 05, 2015	MedGen:C4014540,OMIM:615877,Orphanet:ORPHA424099	Microphthalmia/coloboma and skeletal dysplasia syndrome	germline;inherited	4	150583769	CGGAGAACCGCCTGCTGATGGGCGGCTGCCGAAACAAGTGCCTCTCAGTGCTGAAGACTCT
771148614	443631	NM_000283.3(PDE6B):c.1280G>A (p.Trp427Ter)	PDE6B	Jun 29, 2017	MedGen:CN517202	not provided	germline	4	657373	CCCTCCAGTCCCTGACACAGTTCCTGGGCTGGTCAGTGATGAACACCGACACCTACGACAA
397515935	51752	NM_000256.3(MYBPC3):c.1897+1G>A	MYBPC3	Jul 27, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47341137	GCAACCTGTCAGCCAAGCTCCACTTCATGGGTGAGCCTGCTCCAGGGTAGGGTGGGTCGGG
104886331	35761	NM_000495.4(COL4A5):c.1516+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108595602	CTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGTAAATTATGCCTCAGGGTAACCTTCTAAAT
113331868	424454	NM_171825.2(CAMK2A):c.1204+1G>A	CAMK2A	Jul 03, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Intellectual disability	de novo	5	150228191	TGGACTTCCATCGATTCTATTTTGAAAACCGTGAGCAATTCCTTCTCTCTGTGGTGCCTGT
-1	440367	NM_000702.3(ATP1A2):c.2563G>A (p.Gly855Arg)	ATP1A2	Feb 07, 2017	MedGen:CN517202	not provided	germline	1	160136370	AGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAA
121912717	32951	NM_000039.2(APOA1):c.664G>A (p.Glu222Lys)	APOA1	Aug 01, 1988	na	APOLIPOPROTEIN A-I (MUNSTER4)	germline	11	116835948	AGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCA
113994124	15735	NM_001145320.1(ADAMTSL2):c.2431G>A (p.Gly811Arg)	ADAMTSL2	Apr 19, 2012	MedGen:C3278147,OMIM:231050,SNOMED CT:28557005	Geleophysic dysplasia 1	germline	9	133570346	CTGCCCCGGCCTCAGTGCAACACCACCTGCGGGCGCGGGGTCAAGAAGCGGCTGGTGCTCT
387906790	39109	NM_007126.4(VCP):c.1774G>A (p.Asp592Asn)	VCP	Dec 09, 2010	MedGen:C3152097	Amyotrophic lateral sclerosis 14 without frontotemporal dementia	germline	9	35059723	ATTGCCAAGGCTCGTGGAGGTAACATTGGAGATGGTGGTGGGGCTGCTGACCGAGTCATCA
61750420	22555	NM_000466.2(PEX1):c.2528G>A (p.Gly843Asp)	PEX1	Jul 13, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;MedGen:CN168921,OMIM:601539;MedGen:C1832200,Orphanet:ORPHA79189;MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:88469006;MedGen:CN517202	Leber congenital amaurosis;Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorders, Zellweger syndrome spectrum;Zellweger syndrome;not provided	germline;paternal;unknown	7	92501562	AACCTAGAGACCTGGGTTGGGACAAGATTGGTGGGTTACATGAAGTTAGGCAGATACTCAT
104886168	35824	NM_000495.4(COL4A5):c.2060G>A (p.Gly687Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108601903	GTTTCTCCATAGGTGACCCTGGACTTCCAGGGCAACCAGGCTTGCCAGGGATACCTGGTAG
863224492	213294	NM_000267.3(NF1):c.6999+1G>A	NF1	Jul 28, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31340646	TTAGATAGTCTCCGTATATTCAATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGAT
-1	485773	NM_000267.3(NF1):c.4269+1G>A	NF1	Aug 08, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31258503	ATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATAATCTAGCTATCTTAA
373919408	362089	NM_014855.2(AP5Z1):c.1322G>A (p.Trp441Ter)	AP5Z1	Mar 28, 2017	MedGen:C3150901,OMIM:613647,Orphanet:ORPHA306511	Spastic paraplegia 48, autosomal recessive	germline	7	4787644	CCGCTGTGCTGTGCCCACAGTTCCTGGCCTGGAACAGCCCACCCCTCACCTCCGAGTTTGT
794726659	17662	NM_022464.4(SIL1):c.645+1G>A	SIL1	Dec 01, 2005	MedGen:C0024814,OMIM:248800,Orphanet:ORPHA559,SNOMED CT:80734006	Marinesco-Sjögren syndrome	germline	5	139026800	CTCTTTGATCTTGAATATTATGTCCATCAGGTACTGTATTTCTTCGTCCATAAGTCAGACT
121964905	15259	NM_000027.3(AGA):c.904G>A (p.Gly302Arg)	AGA	Dec 15, 1991	Human Phenotype Ontology:HP:0012068,MedGen:C0268225,OMIM:208400	Aspartylglucosaminuria	germline	4	177433250	AGAATCCAGAAGCATTTTCCAGAATTCTTTGGGGCTGTTATATGTGCCAATGTGACTGGAA
759924541	393792	NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter)	SCN5A	Apr 05, 2016	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005	Brugada syndrome	germline	3	38579439	CCCAGAGGCCCCTCCGGATTCCAGGACCTGGAGCCAGGTGTCAGCGACTGCCTCCTCTGAG
1085307325	414274	NM_001204.6(BMPR2):c.1259G>A (p.Cys420Tyr)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532715	GACTAATCTATTGGGAGATATTTATGAGATGTACAGACCTCTTCCCAGGTAAAAACTACTG
587783368	167932	NM_003688.3(CASK):c.708+1G>A	CASK	Feb 08, 2013	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline	X	41665276	TTTGAAGGCATTATTAAAGGAAAATATAAGGTAATGCATCATGAACATTTTCTTTTTCCAT
756987454	476084	NM_000051.3(ATM):c.4909+1G>A	ATM	Apr 03, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108295060	AGATGGTGGACATTATGAGAGCTTCTCAGGGTGCTAATTTTAAATGACATGGGCTATTTCT
121964881	27268	NM_001692.3(ATP6V1B1):c.232G>A (p.Gly78Arg)	ATP6V1B1	Feb 01, 2003	MedGen:C4016429	Renal tubular acidosis, distal, with progressive deafness	germline	2	70958103	TTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGG
-1	431537	NM_014233.3(UBTF):c.628G>A (p.Glu210Lys)	UBTF	Dec 11, 2017	MedGen:CN469330,OMIM:617672;na	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY;UBTF E210K Neuroregression Syndrome	de novo;germline;not applicable	17	44212851	AAAACCCCCCAGCAGCTGTGGTACACCCACGAGAAGAAGGTGTATCTCAAAGTGCGGCCAG
550423482	224877	NM_018129.3(PNPO):c.674G>A (p.Arg225His)	PNPO	Jun 03, 2017	Human Phenotype Ontology:HP:0001510,MedGen:C3552463;Human Phenotype Ontology:HP:0001511,MedGen:C1386048;MedGen:C1864723,OMIM:610090,Orphanet:ORPHA79096;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Growth delay;Intrauterine growth retardation;Pyridoxal 5'-phosphate-dependent epilepsy;Seizures	germline;unknown	17	47946670	TGATGGAGTTCTGGCAAGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGG
74315419	18492	NM_144773.3(PROKR2):c.969G>A (p.Met323Ile)	PROKR2	Oct 20, 2006	MedGen:C2930927,OMIM:244200	Kallmann syndrome 3	germline	20	5302226	TGCCTTCTACGTGGTCGAGTGCATCGCCATGAGCAACAGCATGATCAACACCGTGTGCTTC
66724222	103231	NM_000531.5(OTC):c.830G>A (p.Arg277Gln)	OTC	Oct 18, 2016	MedGen:CN517202;MedGen:CN169374	not provided;not specified	germline;unknown	X	38408988	GCATGGGACAAGAAGAGGAGAAGAAAAAGCGGCTCCAGGCTTTCCAAGGTTACCAGGTTAC
104894928	24927	NM_000330.3(RS1):c.214G>A (p.Glu72Lys)	RS1	Feb 19, 2016	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;MedGen:CN517202	Juvenile retinoschisis;not provided	germline;unknown	X	18647303	GAATGCCCATATCACAAGCCTCTGGGTTTCGAGTCAGGGGAGGTCACACCGGACCAGATCA
1060502902	472936	NM_000179.2(MSH6):c.315G>A (p.Trp105Ter)	MSH6	Nov 21, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47790981	GGTTTGGGCCAAGATGGAGGGTTACCCCTGGTGGCCTTGTCTGGTTTACAACCACCCCTTT
-1	445599	NM_004360.4(CDH1):c.48+1G>A	CDH1	Jul 20, 2017	MedGen:CN517202	not provided	germline	16	68737464	AGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACG
886044747	237655	NM_000350.2(ABCA4):c.5189G>A (p.Trp1730Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline;unknown	1	94019589	CCACCACCTACTGGGTGACCAACTTCCTCTGGGACATCGTAAGTGTCAGTTTACAGCGCCT
-1	457178	NM_001277115.1(DNAH11):c.1593+1G>A	DNAH11	Feb 06, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21571974	ACTTATGACCCATCTGATTGCACTAACATGGTAATGTTGTACCTTTGCATTTTCATTGCAT
137853082	264827	NM_000455.4(STK11):c.717G>A (p.Trp239Ter)	STK11	Jul 24, 2016	MedGen:CN517202	not provided	germline	19	1220700	CACCTTCTCCGGCTTCAAGGTGGACATCTGGTCGGCTGGGGTCACCCTGTAAGTGCCCCGC
879255510	20120	NM_015560.2(OPA1):c.985-1G>A	OPA1	Oct 05, 2016	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009;MedGen:CN517202	Dominant hereditary optic atrophy;not provided	germline	3	193642764	TCATTACCTCTCAGTTTTCTGTTACTATCAGGTGACTCTGAGTGAAGGTCCTCACCATGTG
1801267	15476	NM_000110.3(DPYD):c.2657G>A (p.Arg886His)	DPYD	Dec 01, 1997	MedGen:C2720286,OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	germline	1	97098598	TGCCAAGTTTTGGACCTTATCTGGAACAGCGCAAGAAAATCATAGCAGAAAACAAGATTAG
876660037	232760	NM_000179.2(MSH6):c.2331G>A (p.Trp777Ter)	MSH6	Aug 09, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47800314	TCCTTTTGGTAAGCGGCTCCTAAAGCAATGGCTTTGTGCCCCACTCTGTAACCATTATGCT
1064039	20674	NM_000099.3(CST3):c.73G>A (p.Ala25Thr)	CST3	Feb 01, 2002	MedGen:C2677774,OMIM:611953	Age-related macular degeneration 11	germline	20	23637790	CTGGCCGTGGCCCTGGCCGTGAGCCCCGCGGCCGGCTCCAGTCCCGGCAAGCCGCCGCGCC
587779660	107150	NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188989450	ATAGGTCCATCTGGTCCTGCTGGAAAAGATGTAAGTTTTTAAAACTTAAATAAGAATACAG
201930377	445333	NM_000338.2(SLC12A1):c.2873+1G>A	SLC12A1	Jul 26, 2017	MedGen:CN517202	not provided	germline	15	48288517	GATCAACCGCATTGAAGAAGAAAAAATTGTGTAAGTAGTTTGCCACTCACATGTTAGGTCA
587779711	107225	NM_000090.3(COL3A1):c.610G>A (p.Gly204Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988617	TAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAA
752300607	214297	NM_019892.5(INPP5E):c.1754G>A (p.Arg585His)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136430325	CCTGCCCCGGGATCAAGACGTCCGACCACCGCCCTGTGTATGGCCTCTTCCGGGTGAAAGT
587779570	107027	NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188990142	CCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAA
75184679	16301	NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr)	RNASEH2B	Sep 25, 2017	MedGen:C0393591,Orphanet:ORPHA51,SNOMED CT:230312006;MedGen:C3489724,OMIM:610181;MedGen:CN517202	Aicardi Goutieres syndrome;Aicardi Goutieres syndrome 2;not provided	germline	13	50945445	GTTGCTTCATAGGTTAATCAAACTGTGGCAGCATTAAAAACCAATAATGTGAATGTCAGTT
75822236	19350	NM_000157.3(GBA):c.1604G>A (p.Arg535His)	GBA	Feb 09, 2016	MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher disease;Gaucher's disease, type 1	germline;unknown	1	155235002	GCTACTCCATTCACACCTACCTGTGGCGTCGCCAGTGATGGAGCAGATACTCAAGGAGGCA
864309672	23304	NM_201378.3(PLEC):c.1221G>A (p.Ser407=)	PLEC	Feb 01, 2005	MedGen:C2677349,OMIM:612138,Orphanet:ORPHA158684	Epidermolysis bullosa simplex with pyloric atresia	germline	8	143933998	GCTGAACCAGGCCGACGCCCTGCTGCAGTCGGTGAGGGGGTGTGGGGCAGGCAGTGGGCGG
753319170	434238	NM_000527.4(LDLR):c.644G>A (p.Arg215His)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105550	TAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAA
-1	474950	NM_002485.4(NBN):c.1124G>A (p.Trp375Ter)	NBN	Jan 25, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	8	89958725	CTGACACAGAATCAGAGCAAGCAGATACATGGTAAAGCTTCTTCATTACCGTACTATTGTT
104886083	35684	NM_000495.4(COL4A5):c.928G>A (p.Gly310Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108581019	CCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGGTTCTTTCC
587776816	29621	NM_000421.3(KRT10):c.1373+1G>A	KRT10	Oct 01, 2010	MedGen:C1836681,OMIM:609165	Erythroderma, ichthyosiform, congenital reticular	germline	17	40819516	CTACCGCAGCCTGCTAGAAGGAGAGGGAAGGTAAATTTTAAAATGAAAAGTTATCCCAGTT
121912771	32689	NM_000494.3(COL17A1):c.3908G>A (p.Arg1303Gln)	COL17A1	Jun 01, 1997	MedGen:C2608084	Epidermolysis bullosa, junctional, localisata variant	germline	10	104034193	GCTCCTCCTCACACAGCTCATCTGTCAGGCGGGGCAGCTCCTACAGCTCTTCCATGAGCAC
267606752	24472	NM_004380.2(CREBBP):c.3832G>A (p.Glu1278Lys)	CREBBP	Mar 15, 2016	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004;MedGen:CN517202	Rubinstein-Taybi syndrome;not provided	germline	16	3749631	GAAAAGAAGAAAAATGATACCTTAGACCCCGAACCGTAAGTATATAGCTATTTCTTTTTTA
121913608	29237	NM_000530.7(MPZ):c.367G>A (p.Gly123Ser)	MPZ	Jan 22, 2008	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161306789	GTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTC
67682641	32363	NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser)	COL1A1	Oct 10, 2016	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type I;Osteogenesis imperfecta type III	germline	17	50194375	AAAGGATCTCCTGGTGAAGCTGGTCGTCCCGGTGAAGCTGGTCTGCCTGGTGCCAAGGTGA
-1	24960	NM_000328.2(RPGR):c.1059+363G>A	RPGR	Aug 01, 2007	MedGen:C1848295,OMIM:300029	Retinitis pigmentosa 15	germline	X	38300884	TTTAATAAATATTTGCTGAATTAAATGTTAGACTCTCAAATCCTGCACAACAGAAAGTCTG
121912543	29899	NM_182894.2(VSX2):c.599G>A (p.Arg200Gln)	VSX2	Jan 01, 2001	MedGen:C1864722	Microphthalmia, cataracts, and iris abnormalities	germline	14	74259621	TGCACCTGCAGGTCTGGTTCCAGAACCGTCGAGCCAAGTGGAGGAAGCGGGAGAAGTGCTG
587783343	167860	NM_139343.2(BIN1):c.1713G>A (p.Trp571Ter)	BIN1	Feb 08, 2013	MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:240081004	Autosomal recessive centronuclear myopathy	germline	2	127048595	CTGGCTCATGGGCGTGAAGGAGAGCGACTGGAACCAGCACAAGGAGCTGGAGAAGTGCCGT
-1	429955	NM_000430.3(PAFAH1B1):c.568+1G>A	PAFAH1B1	Aug 07, 2015	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2670332	AGGGCTTTGAATGCATCAGAACCATGCACGGTAAGGGGTAGAGGATAGTGCTTTAACAGTA
199422279	47895	NR_001566.1(TERC):n.305G>A	TERC	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	3	169764756	CTCCGGAGGCACCCACTGCCACCGCGAAGAGTTGGGCTCTGTCAGCCGCGGGTCTCTCGGG
193922672	45341	NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter)	PKP2	Jul 17, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1836906,OMIM:609040;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided	germline	12	32841103	CGGAGAATATCATCATCCCCTTTTCTGGGTGGCCTGAAGGAGACTACCCAAAAGCAAATGG
587778795	76776	NM_000784.3(CYP27A1):c.433G>A (p.Gly145Arg)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218809754	GAGCACCGGGACCAGCACGACCTGACCTATGGGCCGTTCACCACGTGAGCTGGGGCCTGAA
3134560	24647	m.12192G>A	MT-TH	Jan 01, 2003	MedGen:C3532240;MedGen:C4016610	Cardiomyopathy, hypertrophic, mitochondrial;Cardiomyopathy, idiopathic dilated, mitochondrial	germline	MT	12192	CAGATTGTGAATCTGACAACAGAGGCTTACGACCCCTTATTTACCGAGAAAGCTCACAAGA
863225208	214365	NM_017777.3(MKS1):c.950G>A (p.Gly317Glu)	MKS1	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	17	58210988	TCCCAGGTGCCCTCCGGCTCTTTGTAAATGGAGAGGTCGGTAAGTGTCTTGCTAGCATAGA
1057518230	360250	NM_000548.4(TSC2):c.4493+1G>A	TSC2	Nov 12, 2016	MedGen:CN517202	not provided	germline	16	2084716	TGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTG
200782888	169242	NM_004380.2(CREBBP):c.3836+1G>A	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3749626	GAAGAAAAATGATACCTTAGACCCCGAACCGTAAGTATATAGCTATTTCTTTTTTACTTTC
398124167	101004	NM_001271208.1(NEB):c.1152+1G>A	NEB	Nov 14, 2013	MedGen:C1850569,OMIM:256030	Nemaline myopathy 2	germline	2	151706880	CTGAAGGCAGCAGGAGATGCCCTAAGTGACGTAAGTATATTTTTGTCAAAGTGTTTTTAAA
137854470	31467	NM_000138.4(FBN1):c.3350G>A (p.Cys1117Tyr)	FBN1	Nov 01, 1993	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48487425	GTCATTTCCATTTTGCAGATATTGATGAGTGTCAGAGAGATCCTCTCCTATGCCGAGGTGG
112907302	422019	NM_000138.4(FBN1):c.7819+1G>A	FBN1	Sep 27, 2015	MedGen:CN517202	not provided	germline	15	48420686	TCCAGCACTACCAGTGGAACCAGTGTGTTGGCAAGTAACTTTTCCTCACTCTCAAGATGCA
1131691175	421062	NM_004329.2(BMPR1A):c.1460G>A (p.Trp487Ter)	BMPR1A	Jan 13, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	86923493	AACGTTTGCGGCCAATTGTGTCTAATCGGTGGAACAGTGATGAAGTGAGTGGAACTCAGTC
137852871	17416	NM_000709.3(BCKDHA):c.868G>A (p.Gly290Arg)	BCKDHA	Aug 25, 2013	MedGen:CN068546;MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA;Maple syrup urine disease	germline	19	41422643	CTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATG
752611378	418321	NM_002035.2(KDSR):c.879G>A (p.Gln293=)	KDSR	Jun 13, 2017	MedGen:CN258422,OMIM:617526	Erythrokeratodermia variabilis et progressiva 4	germline	18	63335257	AGTAACTTCTATTACTGAGGGGCTCCAGCAGGTAAGCTCTGCCTAGGCTAGCAATCAGACA
119103269	17306	NM_000101.3(CYBA):c.373G>A (p.Ala125Thr)	CYBA	Jun 01, 2008	MedGen:C1856255,OMIM:233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	16	88643568	GCGGCTCAACCCTTCAGTGCCCCGCAGGCGGCTGTGCGTGGCGAGCAGTGGACGCCCATCG
780600124	440196	NM_001080463.1(DYNC2H1):c.9865G>A (p.Asp3289Asn)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103243717	TACTAGAGTCGAGTGTGCCCATTTCTTATAGATCCTTCTTCCCAAGCTACAGAGTGGTTAA
113993969	22528	NM_002775.4(HTRA1):c.889G>A (p.Val297Met)	HTRA1	Sep 11, 2014	MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	germline	10	122506802	TCCCTTCAAAACACAGTCACCACCGGGATCGTGAGCACCACCCAGCGAGGCGGCAAAGAGC
111033178	52388	NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln)	MYO7A	Feb 28, 2017	MeSH:D052245,MedGen:C0271097,Orphanet:ORPHA886;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:CN517202	Usher syndrome;Usher syndrome, type 1;not provided	germline;unknown	11	77190108	GCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCA
587776454	360619	NM_002049.3(GATA1):c.622G>A (p.Gly208Arg)	GATA1	Nov 14, 2016	MedGen:CN517202	not provided	germline	X	48792346	CCACCAGAGGCCAGGGAGTGTGTGAACTGCGGAGCAACAGCCACTCCACTGTGGCGGAGGG
199476317	40544	NM_001018005.1(TPM1):c.688G>A (p.Asp230Asn)	TPM1	Nov 10, 2017	MedGen:C2678476,OMIM:611878;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1Y;Primary dilated cardiomyopathy;not provided	germline	15	63062263	AGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGT
137853159	23793	NM_000338.2(SLC12A1):c.1875G>A (p.Trp625Ter)	SLC12A1	Nov 01, 1997	MedGen:C1866495,OMIM:601678	Bartter syndrome, type 1, antenatal	germline	15	48251703	GTGCTGTGCAGTCATGTTTGTCATCAACTGGTGGGCAGCTGTCATCACCTATGTCATTGAA
1800582	32753	NM_002099.7(GYPA):c.232G>A (p.Gly78Arg)	GYPA	Dec 05, 1993	na	BLOOD GROUP ERIK	germline	4	144119686	AGAACTGTTTACCCTCCAGAAGAGGAAACCGGTATGTTCTTAGTTTTAAATAGTTGCTCTG
120074194	18184	NM_000218.2(KCNQ1):c.806G>A (p.Gly269Asp)	KCNQ1	Jun 09, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2572871	CCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTT
-1	39410	NM_015331.2(NCSTN):c.1551+1G>A	NCSTN	Nov 19, 2010	MedGen:CN028850,OMIM:142690	Familial acne inversa 1	germline	1	160355959	AGCGACACAGTTCAGGCTGATCCCCAAACGGTAAGCAGATGGGCCCTAGCTCCTTCTTTCT
756085990	481431	NM_001002755.2(NFU1):c.545+5G>A	NFU1	Dec 07, 2017	Gene:80767,MedGen:C3276432,OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	germline	2	69406017	AAGGAATTGTTAGATACTAGAATACGGTACGTGCTCCTCTCTCTACCTGAATTCAAGTGCT
875989895	228128	NM_000527.4(LDLR):c.311G>A (p.Cys104Tyr)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11102784	ACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGA
794727774	195207	NM_000147.4(FUCA1):c.1125G>A (p.Trp375Ter)	FUCA1	Dec 12, 2014	MedGen:C0016788,OMIM:230000,Orphanet:ORPHA349,SNOMED CT:64716005	Fucosidosis	germline	1	23848684	TGGGGAGGCTATCTATGCCTCCAAACCATGGCGGGTGCAATGGGAAAAGAACACAACATCT
80358650	66247	NM_000059.3(BRCA2):c.3G>A (p.Met1Ile)	BRCA2	Jan 20, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32316463	AAGCATTGGAGGAATATCGTAGGTAAAAATGCCTATTGGATCCAAAGAGAGGCCAACATTT
886039470	260216	NM_006087.3(TUBB4A):c.785G>A (p.Arg262His)	TUBB4A	Nov 07, 2017	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441;MedGen:CN517202	Leukodystrophy, hypomyelinating, 6;not provided	germline	19	6495714	AGCTGGCCGTCAACATGGTTCCCTTTCCTCGCCTGCACTTCTTCATGCCCGGCTTCGCACC
606231230	39453	NM_022458.3(LMBR1):c.423+4810G>A	LMBR1	Apr 01, 2011	MedGen:C1868114,OMIM:174500,Orphanet:ORPHA93336	Polydactyly, preaxial II	germline	7	156791579	TATAAAGCTGAGCAACATGACAGCACAATAGAGGAGGAACAAAGATTTTTTTAATATGTTT
587776827	30707	NM_000517.4(HBA2):c.301-1G>A	HBA2	Mar 28, 2013	na;MedGen:CN077787	HEMOGLOBIN CLINICO-MADRID;Hemoglobin H disease, nondeletional	germline	16	173471	CTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTG
61754380	207920	NM_000372.4(TYR):c.982G>A (p.Glu328Lys)	TYR	Mar 16, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008	Tyrosinase-negative oculocutaneous albinism	germline	11	89191364	GTAGAATTTTGCCTGAGTTTGACCCAATATGAATCTGGTTCCATGGATAAAGCTGCCAATT
797044928	205282	NM_001376.4(DYNC1H1):c.10033G>A (p.Glu3345Lys)	DYNC1H1	Jul 20, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	14	102032421	TGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTTCT
207459998	24718	m.14846G>A	MT-CYB	Sep 30, 1999	MedGen:C0241885	Exercise intolerance	germline	MT	14846	CCATCCAACATCTCCGCATGATGAAACTTCGGCTCACTCCTTGGCGCCTGCCTGATCCTCC
587779638	107116	NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999524	CCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAA
137853582	28678	NM_000175.4(GPI):c.475G>A (p.Gly159Ser)	GPI	Mar 01, 1993	MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	germline	19	34377575	ATCACGGACGTCATCAACATTGGCATTGGCGGCTCCGACCTGGTGAGGAGAAAACTGCCTT
121964965	15160	NM_000071.2(CBS):c.415G>A (p.Gly139Arg)	CBS	Jul 01, 1995	MedGen:CN068394	Homocystinuria, pyridoxine-responsive	germline	21	43066279	GATGCTGAGCGCGACGGGACGCTGAAGCCCGGGGACACGATTATCGAGCCGACATCCGGGA
-1	481221	NM_017780.3(CHD7):c.5355G>A (p.Trp1785Ter)	CHD7	Oct 27, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	de novo	8	60849105	ACCTTTCCATGCTGAAGTTCCTGCAGATTGGTGGGATAAGGAAGCAGACAAATCCCTCTTA
774456344	210957	NM_024996.5(GFM1):c.688G>A (p.Gly230Ser)	GFM1	Jun 25, 2013	MedGen:CN517202	not provided	germline	3	158649156	GAACGAGCCATCTATTTTGATGGAGACTTTGGGTAAGTGCTAAAAATACATTATTAAAATT
879254569	245628	NM_000527.4(LDLR):c.539G>A (p.Trp180Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105445	ACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTT
-1	354272	NM_013386.4(SLC25A24):c.650G>A (p.Arg217His)	SLC25A24	Jan 26, 2018	MedGen:C2676780,OMIM:612289,SNOMED CT:205800003	Fontaine progeroid syndrome	de novo;germline	1	108157481	TCTCTCGAACAAGCACTGCCCCTTTGGACCGTCTGAAAATCATGATGCAGGTGAGCTTTAT
794727188	191907	NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp)	COL6A3	Jun 28, 2016	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	2	237360131	AGGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCA
281864914	46892	NM_001146040.1(GLRA1):c.299G>A (p.Arg100His)	GLRA1	Oct 04, 2012	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary	not provided	5	151859962	TCTTCCTGCGGCAGCAATGGAACGACCCCCGCCTGGCCTATAATGAATACCCTGACGACTC
370756367	48522	NM_001329595.1(KLHL10):c.937G>A (p.Ala313Thr)	KLHL10	Dec 01, 2006	MedGen:C3554453,OMIM:615081	Spermatogenic failure 11	germline	17	41845378	AGCCCCACCAATGCCATTGAGGCATATGACGCTCGGGCAGACAGATGGGTGAATGTTACTT
886041675	264347	NM_003919.2(SGCE):c.299G>A (p.Trp100Ter)	SGCE	Apr 05, 2016	MedGen:CN517202	not provided	germline	7	94628293	ATTTAATGGGTTACCCAGACCGACCTGGATGGCTTCGATATATCCAAAGGACACCATATAG
-1	481802	NM_000127.2(EXT1):c.1092G>A (p.Trp364Ter)	EXT1	Jan 22, 2018	MedGen:CN517202	not provided	germline	8	117835516	CTGCGTCCCTGTGATGCTCAGCAATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGG
863225254	214434	NM_004366.5(CLCN2):c.1397G>A (p.Gly466Glu)	CLCN2	Sep 09, 2015	MedGen:C3810242,OMIM:615651,Orphanet:ORPHA363540	Leukoencephalopathy with ataxia	germline	3	184354658	CTCTTTCTCTTCCCACCCCCCTCCCTGAAGGAGCAGCATTTGGGCGTCTGGTGGGTGAAAG
121918611	27971	NM_003052.4(SLC34A1):c.439G>A (p.Val147Met)	SLC34A1	Sep 26, 2002	MedGen:C2676786,OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	germline	5	177386473	TTCAAGGATAACGCCATCCTGTCCAACCCGGTGGCCGGGCTGGTGGTGGGGATCCTGGTGA
199422154	34424	NM_018136.4(ASPM):c.3082G>A (p.Gly1028Arg)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197125046	TCACGAGGAATTGAATTAAGTGATGAGCATGGTAAAAACTGAGTAGAGGTAAAACTTATTC
587779813	132791	NM_000051.3(ATM):c.1235G>A (p.Trp412Ter)	ATM	Mar 25, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108249102	AGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGT
387906635	38680	NM_007327.3(GRIN1):c.1984G>A (p.Glu662Lys)	GRIN1	Mar 11, 2011	MedGen:C3280282,OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	germline	9	137162710	GCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGG
754162070	237797	NM_016111.3(TELO2):c.1826G>A (p.Arg609His)	TELO2	Dec 09, 2016	MedGen:C4310778,OMIM:616954;MedGen:CN517202	You-Hoover-Fong syndrome;not provided	germline	16	1502986	TCTATGCCCTCAACTACAGCCTCCGGCAGCGCATGGACATCCTGGATGTAAGTGCCTCCTG
114378922	17926	NM_032531.3(KIRREL3):c.1007G>A (p.Arg336Gln)	KIRREL3	Dec 01, 2008	MedGen:C2675487,OMIM:612581	Mental retardation, autosomal dominant 4	germline	11	126446877	TTCTTCTTCCTCACATCGCAGTTGGGCCCCGGATGACCACAGAACCCCAATCCTTGCTCGT
431905504	38640	NM_001044.4(SLC6A3):c.1269+1G>A	SLC6A3	May 11, 2017	MedGen:C2751067,OMIM:613135,Orphanet:ORPHA238455;MedGen:CN517202	Infantile Parkinsonism-dystonia;not provided	germline	5	1411242	ATGCTGCTCACCCTGGGTATCGACAGCGCCGTGAGTAACCCGCACCGCCCGGCCCTGTCCT
104894704	21118	NM_004917.4(KLK4):c.458G>A (p.Trp153Ter)	KLK4	Jan 01, 2011	MedGen:C2673922,OMIM:204700	Amelogenesis imperfecta, hypomaturation type, IIA1	germline	19	50908596	CCGCGGGGAACTCTTGCCTCGTTTCTGGCTGGGGTCTGCTGGCGAACGGTGAGCTCACGGG
78838117	22016	NM_002555.5(SLC22A18):c.257G>A (p.Arg86His)	SLC22A18	Oct 10, 2013	MedGen:C4016802	Rhabdomyosarcoma, somatic	somatic	11	2909210	GCCCCTCGGCCCCCAGGTTCGCAGACCAGCGCGGGGCGCGGGCGGCGCTCACGCTCTCCTT
72653137	32329	NM_000088.3(COL1A1):c.2552G>A (p.Gly851Asp)	COL1A1	Oct 03, 1997	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50190008	CTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCATTGTGAGTGGCTTGGCCCTCTGTGC
121434407	21502	NM_001003722.1(GLE1):c.1706G>A (p.Arg569His)	GLE1	Feb 01, 2008	MedGen:C1854664,OMIM:253310,Orphanet:ORPHA1486	Lethal congenital contracture syndrome 1	germline	9	128536414	AAGTGGAGCAGCAAGACAACTTTCTAAAACGCATGTCAGGGATGATCCGTCTCTACGCTGC
121918398	32914	NM_000041.3(APOE):c.875G>A (p.Arg292His)	APOE	May 01, 1993	na	APOE4 VARIANT	germline	19	44909171	GGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCA
118203991	16332	NM_018006.4(TRMU):c.815G>A (p.Gly272Asp)	TRMU	Sep 01, 2009	MedGen:C2751567,OMIM:613070	Liver failure acute infantile	germline	22	46353809	ATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAA
267607914	96367	NM_000251.2(MSH2):c.212-1G>A	MSH2	Aug 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline;unknown	2	47408400	AAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTA
370667926	39399	NM_015979.3(MED23):c.1850G>A (p.Arg617Gln)	MED23	Feb 13, 2017	MedGen:C3280265,OMIM:614249;MedGen:CN517202	Mental retardation, autosomal recessive 18;not provided	germline	6	131603129	TACACACACTCCTTGAGATGTTTAGCTACCGGATGCATCATATTCAGCCTCATTACAGAGT
119103253	17341	NM_005609.3(PYGM):c.1963G>A (p.Glu655Lys)	PYGM	Jan 01, 1995	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	germline	11	64751331	TTCCTGGAGAACTACCGAGTCTCACTGGCCGAGAAAGGTGGGTGCTGCCAACAGGGACCCT
104894280	15523	NM_000317.2(PTS):c.286G>A (p.Asp96Asn)	PTS	Jan 01, 1998	MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13	6-pyruvoyl-tetrahydropterin synthase deficiency	germline	11	112233205	CAGCCCCTTGATCATAAGAATCTGGATATGGATGTGCCATACTTTGCAGATGTGGTGAGGT
111033214	52378	NM_000260.3(MYO7A):c.3508G>A (p.Glu1170Lys)	MYO7A	Oct 28, 2006	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77189348	CCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGA
121918482	28347	NM_000506.3(F2):c.1292G>A (p.Arg431His)	F2	Nov 01, 1992	na	DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II	germline	11	46728157	ACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAGAACTGGTGGCCCGTGGGT
587779601	107061	NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988599	TTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGC
104893664	20457	NM_014585.5(SLC40A1):c.800G>A (p.Gly267Asp)	SLC40A1	Dec 01, 2005	MedGen:C1853733,OMIM:606069,Orphanet:ORPHA139491	Hemochromatosis type 4	germline	2	189564186	CAAAACCCCTGGAGGGAACTCATCTAATGGGTGTGAAAGACTCTAACATCCATGAGCTTGA
-1	423238	NM_000465.3(BARD1):c.654G>A (p.Trp218Ter)	BARD1	-	Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Neoplasm of the breast	germline	2	214781220	GAAAACTTTAGCTGAAATCAACCAAAAATGGAATTTAGAGGCAGAAAAAGAAGATGGTGAA
33974936	30444	NM_000518.4(HBB):c.114G>A (p.Trp38Ter)	HBB	Jun 30, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:C0271980,SNOMED CT:86715000;MedGen:CN517202	beta Thalassemia;beta^0^ Thalassemia;not provided	germline;unknown	11	5226778	CACCCTTAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGAT
28937887	19662	NM_021830.4(TWNK):c.1001G>A (p.Arg334Gln)	TWNK	Apr 07, 2017	MedGen:C0751651,Orphanet:ORPHA68380;MedGen:C1868097	Mitochondrial diseases;Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic	germline	10	100989211	AACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGA
121909101	22308	NM_005603.5(ATP8B1):c.1660G>A (p.Asp554Asn)	ATP8B1	Mar 20, 2014	MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Progressive intrahepatic cholestasis	germline	18	57674993	GGTCAGCTCAACTACCAGGCAGCCTCTCCCGATGAAGGTGCCCTGGTAAACGCTGCCAGGA
121918612	27961	NM_000702.3(ATP1A2):c.901G>A (p.Gly301Arg)	ATP1A2	Sep 01, 2004	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160127704	CAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCC
121918723	27528	NM_000359.2(TGM1):c.1166G>A (p.Arg389His)	TGM1	Oct 06, 2017	MedGen:C3536797,OMIM:242300;MedGen:CN517202	Autosomal recessive congenital ichthyosis 1;not provided	germline	14	24258667	ACCCCAACCTTCGCTCCTCCACAGTGCTGCGCTGCCTGGGTCTGGCCACCCGTACTGTCAC
794728212	197716	NM_000138.4(FBN1):c.3964+1G>A	FBN1	Mar 30, 2014	MedGen:CN517202	not provided	germline	15	48481654	CCGGCAAAAAAGGAAAAACTGGCTGTACAGGTGTGTTTGTTCAAGTAGAACAATAAAATAT
587777160	106643	NM_144628.3(TBC1D20):c.672G>A (p.Trp224Ter)	TBC1D20	Dec 05, 2013	MedGen:C3810265,OMIM:615663	Warburg micro syndrome 4	germline	20	440344	CATCTTTGCCCTCAGCTGGCTCATCACCTGGTTTGGGCATGTCCTGTCTGACTTCAGGCAC
587779448	106882	NM_000090.3(COL3A1):c.3417+5G>A (p.Gly1122_Arg1139del+)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007943	GCAGTCCAGGACCTGCAGGCCCCAGAGTAAGTAGCACAGAAAGATATTACAGGTCCACATG
45481704	58366	NM_000548.4(TSC2):c.2356-1G>A	TSC2	Dec 21, 2015	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2074199	GGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGC
121912901	32280	NM_000089.3(COL1A2):c.1640G>A (p.Gly547Asp)	COL1A2	Aug 17, 2015	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	7	94413922	AGGGTGTTCAAGGTGGAAAAGGTGAACAGGGTCCCCCTGGTCCTCCAGGCTTCCAGGTAAG
690016545	171817	NM_004984.3(KIF5A):c.694G>A (p.Asp232Asn)	KIF5A	Aug 12, 2014	MedGen:C1858712,OMIM:604187,Orphanet:ORPHA100991	Spastic paraplegia 10	germline	12	57567598	CAGAAGCTCAGTGGGAAGCTGTATCTGGTGGACCTGGCAGGGAGTGAGAAGGTAGGGGGTC
104886125	35770	NM_000495.4(COL4A5):c.1607G>A (p.Gly536Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597396	ACTCATTTCAGGGCATTCCAGGAGCTCCAGGTGCTCCAGGCTTTCCTGGATCTAAAGGTGA
1131691126	420766	NM_000267.3(NF1):c.662G>A (p.Trp221Ter)	NF1	Apr 06, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN169374	Hereditary cancer-predisposing syndrome;not specified	germline	17	31181717	GACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATT
397514500	48026	NM_005709.3(USH1C):c.308G>A (p.Arg103His)	USH1C	Jan 23, 2013	MedGen:C1848604,OMIM:276904	Usher syndrome, type 1C	germline	11	17531233	TGCACCCCGAAGGCCTCGGCCTGAGTGTGCGTGGTGGCCTGGAGTTTGGCTGTGGGCTCTT
745927258	265217	NM_015560.2(OPA1):c.1140+1G>A	OPA1	Mar 08, 2016	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009	Dominant hereditary optic atrophy	germline	3	193643050	GTGAAAGAAGGCTGTACCGTTAGCCCTGAGGTAAGGGTTGCAATTCATTTCAGTGACGTTT
59461468	426778	NM_001171.5(ABCC6):c.*38G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150095	CCCTCAACCGTACCCCAGTTGGACCAGCCCGCACAGCCTGCAGTGCTGGAGATGGAAGTGA
67273048	364053	NM_000052.6(ATP7A):c.2867G>A (p.Trp956Ter)	ATP7A	Nov 04, 2016	MedGen:CN517202	not provided	de novo	X	78021030	TTTTTGTTTCCATTGCCACCCTCTTGGTATGGATTGTAATTGGATTTCTGAATTTTGAAAT
121909491	22046	NM_002316.3(LMX1B):c.668G>A (p.Arg223Gln)	LMX1B	Dec 01, 1998	MedGen:C0027341,OMIM:161200,SNOMED CT:22199006	Nail-patella syndrome	germline	9	126693250	GGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGC
104886122	35763	NM_000495.4(COL4A5):c.1562G>A (p.Gly521Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597043	CTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAG
143141689	39188	NM_004153.3(ORC1):c.314G>A (p.Arg105Gln)	ORC1	Jun 14, 2016	MedGen:C1868684,Orphanet:ORPHA2554;MedGen:CN030358,OMIM:224690	Meier-Gorlin syndrome;Meier-Gorlin syndrome 1	germline	1	52397773	TCCCTGCCTGTAAACGGCATTTGTTGGGCCGGAAGCCTGGTGCACAGGAAATATTCTGGTA
398122617	97006	NM_000059.3(BRCA2):c.9573G>A (p.Trp3191Ter)	BRCA2	Sep 09, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32396969	GCATATACTGCATGCAAATGATCCCAAGTGGTCCACCCCAACTAAAGACTGTACTTCAGGG
672601346	171696	NM_001845.5(COL4A1):c.2263G>A (p.Gly755Arg)	COL4A1	Jun 01, 2012	MedGen:C1843512,OMIM:607595	Brain small vessel disease with hemorrhage	germline	13	110179352	CCAGGTCTTCCCGGCATTCCTGGCACACCCGGGGAGAAGGGGAGCATTGGGGTACCAGGCG
730880270	19537	NM_016180.4(SLC45A2):c.563-1G>A	SLC45A2	Nov 01, 2001	MedGen:C1847836,OMIM:606574,Orphanet:ORPHA79435	Oculocutaneous albinism type 4	germline	5	33964017	ATATGCTAACATAGCTTTTCTTGCTTTCCAGGTTTTGGAGGTGCCCTGGGTTACCTTTTGG
104886237	35979	NM_000495.4(COL4A5):c.3508G>A (p.Gly1170Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108666549	CCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGCTGGAC
1085307254	414190	NM_001204.6(BMPR2):c.727G>A (p.Glu243Lys)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202518927	TCCTTTGCAAACCGTCAGAATTTTATCAACGAAAAGAACATTTACAGAGTGCCTTTGATGG
369486176	259229	NM_176787.4(PIGN):c.1434+5G>A	PIGN	Sep 28, 2016	MedGen:C3279775,OMIM:614080,Orphanet:ORPHA280633	Multiple congenital anomalies-hypotonia-seizures syndrome 1	germline	18	62113129	TAAAAGGTGTTAGTAAAGAAGTGAAGGTACGTTTAGAAAATGTGAGGATTCAGATGATGGT
137852586	485836	NM_000044.4(AR):c.1739G>A (p.Cys580Tyr)	AR	Jan 18, 2005	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67643378	GTCACTATGGAGCTCTCACATGTGGAAGCTGCAAGGTCTTCTTCAAAAGAGCCGCTGAAGG
886041595	265099	NM_001039590.2(USP9X):c.1140G>A (p.Trp380Ter)	USP9X	Nov 23, 2016	MedGen:CN517202	not provided	germline	X	41141410	TCGACATGGTAATCCTGAGGAGGAAGAGTGGCTCACAGCTGAACGAATGGCAGTGAGTCTT
781687341	384408	NM_001163817.1(DHCR7):c.1328G>A (p.Arg443His)	DHCR7	Sep 14, 2016	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	paternal	11	71435475	TCATCTACATGGCCATCCTGCTGACCCACCGCTGCCTCCGGGACGAGCACCGCTGCGCCAG
28931595	32065	NM_004004.5(GJB2):c.535G>A (p.Asp179Asn)	GJB2	Dec 22, 2016	MedGen:C2675750,OMIM:601544	Deafness, autosomal dominant 3a	germline	13	20189047	TGCAACGCCTGGCCTTGTCCCAACACTGTGGACTGCTTTGTGTCCCGGCCCACGGAGAAGA
200948870	414214	NM_001204.6(BMPR2):c.908G>A (p.Arg303His)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202520142	TCCACACAAGTGACTGGGTAAGCTCTTGCCGTCTTGCTCATTCTGTTACTAGAGGACTGGC
111293259	206868	NM_004543.4(NEB):c.3774+1G>A	NEB	Dec 01, 2014	MedGen:CN187052	Nemaline myopathy 2, autosomal recessive	germline	2	151677564	GCAAAACAGAACACGAAGCAAGTCAGTGATGTGAGTACAATAAAATAGAGAGGACAGAGGA
28928871	31289	NM_000145.3(FSHR):c.1699G>A (p.Asp567Asn)	FSHR	Aug 21, 2003	MedGen:C0085083,OMIM:608115,Orphanet:ORPHA64739,SNOMED CT:129635004	Ovarian hyperstimulation syndrome	germline	2	48963122	CGGAACCCCAACATCGTGTCCTCCTCTAGTGACACCAGGATCGCCAAGCGCATGGCCATGC
281874722	35606	NM_000495.4(COL4A5):c.385G>A (p.Gly129Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108571413	TCCATGCTCTTTATTTTTAACTCCTTCTAGGGAGAACGTGGATTTCCAGGCAGTCCCGGTT
776483190	185796	NM_005957.4(MTHFR):c.137G>A (p.Arg46Gln)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11802980	GCCTGGACCCCGAGCGGCATGAGAGACTCCGGGAGAAGATGAGGCGGCGATTGGAATCTGG
863224493	213298	NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter)	NF1	Mar 15, 2016	Human Phenotype Ontology:HP:0000997,MedGen:C1860335;Human Phenotype Ontology:HP:0000957,MedGen:C0221263;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0001472;Human Phenotype Ontology:HP:0030052,MedGen:C1834297;Human Phenotype Ontology:HP:0000023,MedGen:C0019294;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;Human Phenotype Ontology:HP:0001328,MedGen:C4025790	Axillary freckling;Cafe-au-lait spot;Delayed speech and language development;Familial predisposition;Inguinal freckling;Inguinal hernia;Neurofibromatosis, type 1;Specific learning disability	germline	17	31352281	TTTCAGGACACTAAAGGAGACTCAGCCATGGTCCTCTCCCAAAGGTTCTGAAGGATACCTT
398124268	101458	NM_014141.5(CNTNAP2):c.2153G>A (p.Trp718Ter)	CNTNAP2	Aug 16, 2012	MedGen:CN517202	not provided	germline	7	147903619	TTGGCAAAGCCAACGAGAAGCACTACTACTGGGGAGGCTCTGGGCCTGGAATCCAGAAATG
28941783	18207	NM_000187.3(HGD):c.481G>A (p.Gly161Arg)	HGD	Mar 09, 2016	MedGen:C0002066,OMIM:203500,Orphanet:ORPHA56	Alkaptonuria	germline;unknown	3	120647041	CCCTGTCTTTTTTTGTCAGTTCCGCAGAAAGGGAACCTTCTCATTTACACCGAGTTTGGCA
121912749	32808	NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg)	SLC4A1	Sep 01, 1998	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44260501	CTCCTAGACCTGCAAGAGACCTCCCTGGCTGGAGTGGCCAACCAACTGCTAGACAGGTTTA
730880620	179377	NM_000256.3(MYBPC3):c.505+1G>A	MYBPC3	Aug 04, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Hypertrophic cardiomyopathy;not provided	germline	11	47350013	TGCGGCCACAGGATGGCGAGGTGACCGTGGGTGAGTGTGAGCTGCTGTGCCCAGCATTGGG
786205055	15961	NM_014798.2(PLEKHM1):c.296+1G>A	PLEKHM1	Apr 01, 2007	MedGen:C1969093,OMIM:611497,Orphanet:ORPHA210110	Osteopetrosis autosomal recessive 6	germline	17	45477899	CTGGCCCCTCCTGAAAGCTGTCACCCACAAGTGAGATTTAGCTGGAGAGGTTTTGCTTTGC
796053370	202316	NM_003165.3(STXBP1):c.1359+1G>A	STXBP1	Nov 15, 2012	MedGen:CN517202	not provided	germline	9	127676754	GCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGT
797045025	205064	NM_001193416.2(DDX3X):c.977G>A (p.Arg326His)	DDX3X	Oct 17, 2017	MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260;MedGen:CN517202	Mental retardation, X-linked 102;not provided	germline	X	41344351	GATGCCATTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGAT
398124036	100650	NM_004006.2(DMD):c.6906G>A (p.Trp2302Ter)	DMD	Mar 31, 2014	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31929602	AAATAAGCTCAAGCAGACAAATCTCCAGTGGATAAAGGTTAGACATTAACCATCTCTTCCG
67651903	103060	NM_000531.5(OTC):c.317G>A (p.Gly106Glu)	OTC	-	MedGen:CN517202	not provided	unknown	X	38381360	TTTTTATTGTAGGCTTTGCACTTCTGGGAGGACATCCTTGTTTTCTTACCACACAAGATAT
312262827	49542	NM_003611.2(OFD1):c.412G>A (p.Gly138Ser)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13739032	GTTTCAGGATCTGATAAAGAAAATCAAAAAGGTAGGAGCCGTCATCTTTGTAGAGAACAGC
281864919	46901	NM_000171.3(GLRA1):c.1259G>A (p.Arg420His)	GLRA1	Jun 14, 2017	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197;MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197;MedGen:CN517202	Hyperekplexia hereditary;Hyperekplexia hereditary;not provided	germline	5	151822764	AGAGGGCCAAGAAGATCGACAAAATATCCCGCATTGGCTTCCCCATGGCCTTCCTCATTTT
1060500046	397398	NM_007327.3(GRIN1):c.1923G>A (p.Met641Ile)	GRIN1	Aug 10, 2016	MedGen:C3280282,OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	germline	9	137162649	CCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTG
587779439	106871	NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007545	CGTGGTGACAAAGGTGAAACAGGTGAACGTGGAGCTGCTGGCATCAAAGGACATCGAGGAT
797044570	188188	NM_002055.4(GFAP):c.205G>A (p.Glu69Lys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44915282	AATGCTGGCTTCAAGGAGACCCGGGCCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACC
745655924	22830	NM_004482.3(GALNT3):c.1524+1G>A	GALNT3	Jan 01, 2005	MedGen:C1876187,OMIM:211900,OMIM:610233,Orphanet:ORPHA306661	Tumoral calcinosis, familial, hyperphosphatemic	germline	2	165754931	CCAGACCTTAATCCTGTTATATCTGGATACGTGAGTATTTTCCTGTTCCTTTTTTAATTAA
863225154	214199	NM_023073.3(CPLANE1):c.8855+1G>A	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37122429	GAGACAAAAGATGAAGCATGAAAAAGACAGGTGAGTTTGGTAGCTGTAACCCTGTGTTTTC
397514476	39908	NM_001012515.2(FECH):c.571G>A (p.Ala191Thr)	FECH	Sep 01, 2007	MedGen:C0162568,OMIM:177000,Orphanet:ORPHA79278,SNOMED CT:51022005	Erythropoietic protoporphyria	germline	18	57566492	GAAGAGATGGAGAGAGATGGCCTAGAAAGGGCTATTGCTTTCACACAGTATCCACAGTACA
991082382	487917	NM_000152.4(GAA):c.1735G>A (p.Glu579Lys)	GAA	Sep 22, 2016	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80112081	TACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCAC
587779584	107043	NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg)	COL3A1	Mar 22, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188996134	CAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGA
267607021	21224	NM_001014.4(RPS10):c.3G>A (p.Met1Ile)	RPS10	Feb 12, 2010	MedGen:C2750081,OMIM:613308	Diamond-Blackfan anemia 9	germline	6	34425219	GCTCTTGACAATCGTCTCCTTCTTGCAGATGTTGATGCCTAAGAAGAACCGGATTGCCATT
886041133	265118	NM_000044.4(AR):c.2668G>A (p.Val890Met)	AR	Nov 15, 2016	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:CN517202	Androgen resistance syndrome;not provided	germline	X	67723746	GACCTGCTAATCAAGTCACACATGGTGAGCGTGGACTTTCCGGAAATGATGGCAGAGATCA
199472941	78182	NM_000238.3(KCNH2):c.1825G>A (p.Asp609Asn)	KCNH2	Mar 15, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	7	150951568	AGCAGCGGCCTGGGCGGCCCCTCCATCAAGGACAAGTATGTGACGGCGCTCTACTTCACCT
61750639	105310	NM_000350.2(ABCA4):c.5929G>A (p.Gly1977Ser)	ABCA4	Jun 23, 2016	MedGen:CN517202	not provided	germline	1	94007710	TGCTTTGGCCTCCTGGGAGTGAATGGTGCCGGCAAAACAACCACATTCAAGATGCTCACTG
387906311	18967	NM_000520.5(HEXA):c.672+1G>A	HEXA	Dec 20, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;na;MedGen:CN517202	Tay-Sachs disease;Tay-sachs disease, juvenile/adult;not provided	germline;unknown	15	72351132	AGCTTCACTTTTCCAGAGCTCATGAGAAAGGTATGTTCCCGTTTCACTCAGACCAAGTTTA
886038205	249229	NM_001243473.2(B9D1):c.526G>A (p.Gly176Arg)	B9D1	Sep 23, 2016	MedGen:C4310706,OMIM:617120	Joubert syndrome 27	germline	17	19343795	ACCCCAAGGTGGTGGCTCAGGGTGAAGGCCGGGAAGGTAAAGCTCCCTCCCCTCTCTTACC
145100473	65567	NM_001169109.1(SCO2):c.341G>A (p.Arg114His)	SCO2	May 02, 2013	MedGen:C1837148,OMIM:608908	Myopia 6	germline	22	50524071	TCCACCTGCTGGATCACAGAGGCCGGGCTCGCTGCAAGGCTGACTTCCGGGGCCAGTGGGT
527236066	152830	NM_001142800.1(EYS):c.7919G>A (p.Trp2640Ter)	EYS	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	6	63762613	CAACCCACAGCTGCAATTGTACCACTGGGTGGAAAGGATCATTCTGCACAGAGACAGTTTC
606231147	19937	NM_022458.3(LMBR1):c.423+4917G>A	LMBR1	Aug 01, 2014	MedGen:C1861099,OMIM:188740,Orphanet:ORPHA988	Tibia, hypoplasia or aplasia of, with polydactyly	germline	7	156791472	GGCAAACTTACATAAAAGTGACCTTGTACTGTATTTTATGACCAGATGACTTTTTCCCCCC
180177151	24977	NM_002764.3(PRPS1):c.193G>A (p.Asp65Asn)	PRPS1	Jan 01, 2010	MedGen:C1844677,OMIM:304500,OMIM:304590	Deafness, X-linked 1	germline	X	107639365	ATTGTTCAGAGTGGTTGTGGCGAAATCAATGACAATTTAATGGAGCTTTTGATCATGATTA
104886105	35711	NM_000495.4(COL4A5):c.1148G>A (p.Gly383Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108586730	GAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAGGTAAATGAGATTG
200873900	24749	m.11696G>A	MT-ND4	Sep 19, 2013	MedGen:C1839040,OMIM:500001;Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber hereditary optic neuropathy with dystonia;Leber's optic atrophy	germline	MT	11696	ATCCAAACCCCCTGAAGCTTCACCGGCGCAGTCATTCTCATAATCGCCCACGGGCTTACAT
267606675	16307	NM_194318.3(B3GLCT):c.1178G>A (p.Gly393Glu)	B3GLCT	Nov 01, 2009	MedGen:C0796012,OMIM:261540	Peters plus syndrome	germline	13	31317679	GCACTGGTGGCTACAGCTACATCACGGGAGGAGGAGGGTAACTATGATCACAGCTTTCTTC
796052505	201880	NM_000816.3(GABRG2):c.316G>A (p.Ala106Thr)	GABRG2	Oct 24, 2017	MedGen:C1843244,OMIM:607681;MedGen:C1969810,OMIM:611277;MedGen:CN517202;MedGen:CN169374	Epilepsy, childhood absence 2;Familial febrile seizures 8;not provided;not specified	de novo;germline;unknown	5	162095551	ATGTATGTGAATAGCATTGGTCCAGTGAACGCTATCAATATGGTGAGTTTCCAAATAAAAT
398124052	100674	NM_004006.2(DMD):c.7682G>A (p.Trp2561Ter)	DMD	May 13, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31679565	TTATTCTAGTTGAAAGAATTCAGAATCAGTGGGATGAAGTACAAGAACACCTTCAGAACCG
387906920	39464	NM_023067.3(FOXL2):c.205G>A (p.Glu69Lys)	FOXL2	Jun 01, 2011	MedGen:C2931135	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1	germline	3	138946518	TACGTGGCGCTCATCGCCATGGCGATCCGCGAGAGCGCGGAGAAGAGGCTCACGCTGTCCG
543267101	152757	NM_020745.3(AARS2):c.2893G>A (p.Gly965Arg)	AARS2	Jun 10, 2014	MedGen:C4014588,OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	germline	6	44300612	TGGGGCTCACGAGTGGTGGCCCAAGGCACCGGAAGCACTACTGACCTGGAAGCTGCCCTCA
199472687	77968	NM_000218.2(KCNQ1):c.421G>A (p.Val141Met)	KCNQ1	Jul 31, 2017	EFO:EFO_0000275,Human Phenotype Ontology:HP:0005110,MedGen:C1963067;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C1865019,OMIM:609621;MedGen:CN517202	Atrial fibrillation;Long QT syndrome;Short QT syndrome 2;not provided	germline	11	2527962	CTCATCGTCCTGGTCTGCCTCATCTTCAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCC
121908216	23534	NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His)	CACNA1A	Apr 03, 2017	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006;MedGen:CN517202	Episodic ataxia type 2;not provided	germline	19	13235702	AGAATAACTTCATCAACCTGAGCTTTCTCCGCCTCTTCCGAGCTGCCCGGCTCATCAAACT
886043794	272283	NM_001844.4(COL2A1):c.1023+1G>A	COL2A1	May 16, 2016	MedGen:C0265279,OMIM:156550,Orphanet:ORPHA485,SNOMED CT:53974002	Kniest dysplasia	germline	12	47992877	AGAGGACGGACTGGCCCTGCTGGCGCTGCGGTGAGTAATTGACAAAGCCAAACACCACCAT
387906620	38643	NM_002526.3(NT5E):c.1073G>A (p.Cys358Tyr)	NT5E	Feb 03, 2011	MedGen:C1859372,OMIM:211800,Orphanet:ORPHA289601	Calcification of joints and arteries	germline	6	85487458	GCTCCTCTCAATCATGCCGCTTTAGAGAATGCAACATGGGCAACCTGATTTGTGATGCAAT
199473579	39004	NM_198056.2(SCN5A):c.1963G>A (p.Glu655Lys)	SCN5A	May 27, 2014	EFO:EFO_0000275,Human Phenotype Ontology:HP:0005110,MedGen:C1963067;MedGen:C3151464,OMIM:614022;MedGen:CN517202	Atrial fibrillation;Atrial fibrillation, familial, 10;not provided	germline	3	38598978	TCCCAGGCTCCGTGTGTAGATGGCTTCGAGGAGCCAGGAGCACGGCAGCGGGCCCTCAGCG
754639936	359833	NM_006077.3(MICU1):c.1078-1G>A	MICU1	Oct 19, 2016	MedGen:CN517202	not provided	germline	10	72408038	CTGCCTTACCTTGCTGTCTCTCCTCTTGCAGGGTCTGACATTTCAGGAGGTGGAGAACTTC
141212743	76961	NM_002336.2(LRP6):c.1079G>A (p.Arg360His)	LRP6	Sep 01, 2013	MedGen:C1970440,OMIM:610947	Coronary artery disease, autosomal dominant 2	germline	12	12181337	CAGACATTGTTCTGCAGTTAGAAGACATCCGTCATGCCATTGCCATAGATTACGATCCTGT
119476049	19388	NM_001127713.1(ATL1):c.650G>A (p.Arg217Gln)	ATL1	Jun 01, 2002	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984	Spastic paraplegia 3	germline	14	50613278	TTATTTTTTAGAGTCTGATATTTCTTGTTCGAGACTGGAGTTTCCCATACGAATTTTCATA
863225397	214577	NM_000251.2(MSH2):c.793-1G>A	MSH2	Jun 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	2	47414268	AAATCTTCGATTTTTAAATTCTTAATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATC
62645957	105194	NM_000350.2(ABCA4):c.45G>A (p.Trp15Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94121001	ACAGATACAGCTTTTGCTCTGGAAGAACTGGACCCTGCGGAAAAGGCAAAAGGTAACAGTT
371777049	268648	NM_206933.2(USH2A):c.908G>A (p.Arg303His)	USH2A	Dec 01, 2015	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216325540	TTCTCAGATTGCATGCCCAATCACATTGCCGTTGCCCTGGCAGCCACCCGCGGGTCCACCC
122467174	26457	NM_014009.3(FOXP3):c.3G>A (p.Met1Ile)	FOXP3	Jun 01, 2006	MedGen:C0342288,OMIM:304790,Orphanet:ORPHA37042,SNOMED CT:237618001	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	germline	X	49258503	ACGCAGCCTGCCCTTGGACAAGGACCCGATGCCCAACCCCAGGCCTGGCAAGCCCTCGGCC
727504421	178514	NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn)	TGFBR2	Apr 09, 2015	MedGen:C2697932,Orphanet:ORPHA60030,SNOMED CT:446263001;MedGen:CN517202	Loeys-Dietz syndrome;not provided	germline	3	30691465	TGTGAGACGTTGACTGAGTGCTGGGACCACGACCCAGAGGCCCGTCTCACAGCCCAGTGTG
61753180	18833	NM_000372.4(TYR):c.140G>A (p.Gly47Asp)	TYR	Jan 26, 2017	MedGen:C1847024,OMIM:606952,Orphanet:ORPHA79434;MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Oculocutaneous albinism type 1B;Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178093	CACCGTGGAGCGGGGACAGGAGTCCCTGTGGCCAGCTTTCAGGCAGAGGTTCCTGTCAGAA
779184183	444937	NM_000545.6(HNF1A):c.812G>A (p.Arg271Gln)	HNF1A	Aug 14, 2017	MedGen:CN517202	not provided	germline	12	120994262	AGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCT
121909538	33115	NM_001145.4(ANG):c.164G>A (p.Arg55Lys)	ANG	Apr 01, 2006	MedGen:C2678468,OMIM:611895	Amyotrophic lateral sclerosis type 9	germline	14	20693728	GGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGA
886041300	263996	NM_172362.2(KCNH1):c.1070G>A (p.Arg357Gln)	KCNH1	Apr 03, 2017	MedGen:CN517202	not provided	germline	1	210920032	GCAGCCTGTTCAGCTCTCTAAAAGTTGTCCGGCTGCTCCGTCTTGGGCGAGTGGCCCGTAA
-1	31495	NM_000138.4(FBN1):c.5788+1G>A	FBN1	Oct 01, 2001	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48446705	TCATCCTTTCTCACAACAATGACTGTATAGGTGCGTGTGCAAAATTGTGCATCAGCAAAGG
574132670	185787	NM_005957.4(MTHFR):c.548G>A (p.Arg183Gln)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11800250	ACTACGCAGTGGACCTGGTGAAGCACATCCGAAGTGAGTTTGGTGACTACTTTGACATCTG
121908030	18731	NM_000527.4(LDLR):c.910G>A (p.Asp304Asn)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:C0020443	Familial hypercholesterolemia;Hypercholesterolaemia	germline;inherited;not applicable	19	11107484	AAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCG
267607640	77728	NM_170707.3(LMNA):c.1488+1G>A	LMNA	Feb 16, 2016	MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264;MedGen:C0432291,OMIM:248370,Orphanet:ORPHA2457,SNOMED CT:109419009;MedGen:CN517202	Limb-girdle muscular dystrophy, type 1B;Mandibuloacral dysostosis;not provided	germline	1	156137029	TTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGA
118203889	24600	m.12207G>A	MT-TS2	Sep 01, 2006	MedGen:C3151970	MERRF/MELAS overlap syndrome	germline	MT	12207	ACAACAGAGGCTTACGACCCCTTATTTACCGAGAAAGCTCACAAGAACTGCTAACTCATGC
-1	488009	NM_000178.3(GSS):c.-9+5G>A	GSS	Apr 13, 2017	Human Phenotype Ontology:HP:0003343,MedGen:C0398746,OMIM:266130,Orphanet:ORPHA289846,SNOMED CT:234589002	Gluthathione synthetase deficiency	germline	20	34955722	ACCGTTCGCGGAGGAAAGGCGAACTAGTAGGTTGGGGCGGCCACGGCGGCCGGCATGGGTC
876658740	234231	NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter)	ATM	May 03, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	11	108310195	CTTCAGGAACAATTTTTAATGATGCTTTCTGGCTGGATTTAAATTATCTAGAAGTTGCCAA
876658667	233077	NM_000038.5(APC):c.3146G>A (p.Trp1049Ter)	APC	Mar 24, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN169374	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not specified	germline	5	112838740	GAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGA
121912506	29463	NM_000238.3(KCNH2):c.2464G>A (p.Val822Met)	KCNH2	Apr 08, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:C3150943,OMIM:613688	Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 1;Long QT syndrome 2	germline;unknown	7	150948984	TATGCAAGGCCTGGCAAGTCGAACGGGGATGTGCGGGCCCTCACCTACTGTGACCTACACA
76992529	28465	NM_000371.3(TTR):c.424G>A (p.Val142Ile)	TTR	Jul 25, 2017	MedGen:C3151471;MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008;MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008;Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;MedGen:CN230736;MedGen:C0007286,OMIM:115430;MedGen:C2750824,OMIM:145680;MedGen:CN517202;MedGen:CN169374	Amyloid Cardiomyopathy, Transthyretin-related;Amyloidogenic transthyretin amyloidosis;Amyloidogenic transthyretin amyloidosis;Cardiomyopathy;Cardiovascular phenotype;Carpal tunnel syndrome;Dystransthyretinemic euthyroidal hyperthyroxinemia;not provided;not specified	germline;unknown	18	31598655	AGCCCCTACTCCTATTCCACCACGGCTGTCGTCACCAATCCCAAGGAATGAGGGACTTCTC
730880558	179275	NM_000256.3(MYBPC3):c.1898-1G>A	MYBPC3	Aug 14, 2012	MedGen:CN517202	not provided	germline	11	47341033	CCCGTGCTACTTGCTCTTCCTTCTCTTGCAGAGGTCAAGATTGACTTCGTACCCAGGCAGG
148092995	360618	NM_000487.5(ARSA):c.979G>A (p.Gly327Ser)	ARSA	Apr 18, 2016	MedGen:CN517202	not provided	germline	22	50626154	TTGGCCTTCTGGCCAGGTCATATCGCTCCCGGTCAGTCCGCAGGCCCTCTCCTTGGAACCC
137852302	25510	NM_000032.4(ALAS2):c.871G>A (p.Gly291Ser)	ALAS2	Sep 21, 2005	MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED CT:62677000	Hereditary sideroblastic anemia	germline	X	55017618	GACGCAGGCAACCATGCTTCCATGATCCAAGGTATCCGTAACAGTGGAGCAGCCAAGTTTG
863225260	214458	NM_005445.3(SMC3):c.1462G>A (p.Glu488Lys)	SMC3	Apr 01, 2015	MedGen:C1853099,OMIM:610759	Cornelia de Lange syndrome 3	germline	10	110589944	GCAGAACAGCAAGCACTTGCTGCTAAAAGAGAAGATCTTGAAAAGAAGCAACAACTTCTTA
-1	434187	NM_000527.4(LDLR):c.29G>A (p.Trp10Ter)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089577	GCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGG
121917995	79449	NM_006920.4(SCN1A):c.4874G>A (p.Arg1625Gln)	SCN1A	May 27, 2016	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C1853372,OMIM:606369;MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Early infantile epileptic encephalopathy;Epileptic encephalopathy Lennox-Gastaut type;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	germline;unknown	2	165992368	AAAAGTATTTCGTGTCCCCTACCCTGTTCCGAGTGATCCGTCTTGCTAGGATTGGCCGAAT
72558181	16247	NM_000429.2(MAT1A):c.791G>A (p.Arg264His)	MAT1A	Mar 30, 2015	MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009;MedGen:CN517202	Hepatic methionine adenosyltransferase deficiency;not provided	germline	10	80275177	CTCTGCAGGGGGATGCGGGTGTCACTGGCCGTAAGATTATTGTGGACACCTATGGCGGCTG
121908670	21321	NM_002335.3(LRP5):c.724G>A (p.Ala242Thr)	LRP5	Jul 27, 2016	MedGen:C1843330,OMIM:607634,Orphanet:ORPHA2783;MedGen:C1843323,OMIM:607636;MedGen:C0432273,OMIM:144750,Orphanet:ORPHA2790,SNOMED CT:254131007;MedGen:CN517202	Osteopetrosis autosomal dominant type 1;Van Buchem disease type 2;Worth disease;not provided	germline	11	68363784	GTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACT
193302847	445491	NM_032520.4(GNPTG):c.318-1G>A	GNPTG	Nov 03, 2017	MedGen:CN517202	not provided	germline	16	1362037	GGCCTCACGTGCCGTGCCCGTGTCTCCCCAGCATCTGGCACGAGTGGGAGATCGCCAACAA
121908690	21232	NM_001142548.1(RAD54L):c.973G>A (p.Gly325Arg)	RAD54L	Jun 03, 1999	MedGen:C1527349	Ductal breast carcinoma	germline	1	46267540	TTGAACACCAGCCGGCGGGTGCTCATCTCCGGAACTCCCATCCAGAATGATCTGCTTGAGT
104894518	17923	NM_025193.3(HSD3B7):c.439G>A (p.Glu147Lys)	HSD3B7	Aug 25, 2016	MedGen:C1843116,OMIM:607765,Orphanet:ORPHA79301	Bile acid synthesis defect, congenital, 1	germline	16	30986612	AGTCTTCCTTCTCCTCCCACCAGGGGCAACGAAGACACCCCATACGAAGCAGTGCACAGGC
587777356	132674	NM_178014.3(TUBB):c.1057G>A (p.Val353Ile)	TUBB	Dec 27, 2012	MedGen:C4014283,OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	germline	6	30724119	GAATGGATCCCCAACAATGTCAAGACAGCCGTCTGTGACATCCCACCTCGTGGCCTCAAGA
142637046	98272	NM_000048.3(ASL):c.446+1G>A	ASL	Jun 05, 2017	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004;MedGen:CN517202	Argininosuccinate lyase deficiency;not provided	germline;unknown	7	66083175	CATTAGGACCATGGTGGATCGGGCAGAGGCGTGAGTCCTACAGGGACACCCAGGGGGCAGA
753851892	38799	NM_006208.2(ENPP1):c.795+1G>A	ENPP1	Jan 13, 2012	MedGen:C1859727,OMIM:208000	Arterial calcification of infancy	germline	6	131858748	ACTTTCCCCAATCACTACAGCATTGTCACCGTAAGCTCTGCATTTCAACTTCTATCTGTTT
797044886	205335	NM_005334.2(HCFC1):c.5860G>A (p.Gly1954Arg)	HCFC1	Jul 18, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	X	153950387	GCCCAGCTGGCCTTCATGCGGGTGTACTGCGGGCCCAGCCCCTCCTGCCTGGTGCAGTCCT
672601349	171699	NM_001845.5(COL4A1):c.2122G>A (p.Gly708Arg)	COL4A1	Jan 01, 2009	MedGen:C1843512,OMIM:607595	Brain small vessel disease with hemorrhage	germline	13	110181363	ACAGGTGTTGACGGCTTACCTGGAGACATGGGGCCACCGGGGACTCCAGGTCGCCCGGGAT
863224007	210663	NM_000143.3(FH):c.1189G>A (p.Gly397Arg)	FH	Jul 13, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002;Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Fumarase deficiency;Multiple cutaneous leiomyomas;not provided	germline	1	241502490	GTCATGGGGAACCATGTTGCTGTCACTGTCGGAGGCAGCAATGGACATTTTGAGTTGAATG
398123768	100172	NM_003494.3(DYSF):c.1398-1G>A	DYSF	Nov 01, 2012	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71539156	TGTTCAGGCCCTCTCTGCTCCCTTGCTCTAGGGACCGCCTGACTCACAATGACATCGTGGC
137853290	28136	NM_000326.4(RLBP1):c.452G>A (p.Arg151Gln)	RLBP1	Jun 01, 2001	Human Phenotype Ontology:HP:0030642,MedGen:C0311338,OMIM:136880,Orphanet:ORPHA227796,SNOMED CT:68222009;MedGen:C1405854	Pigmentary retinal dystrophy;Retinitis punctata albescens	germline	15	89215133	AAGCTGGCTACCCTGGTGTCCTCTCTAGTCGGGACAAGTATGGCCGAGTGGTCATGCTCTT
773598203	446020	NM_001005360.2(DNM2):c.1852G>A (p.Ala618Thr)	DNM2	Mar 17, 2017	MedGen:CN517202	not provided	germline	19	10823858	GACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCG
587779437	106869	NM_000090.3(COL3A1):c.2140G>A (p.Gly714Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999488	ACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTC
515726149	131985	NM_181523.2(PIK3R1):c.1892G>A (p.Arg631Gln)	PIK3R1	Apr 02, 2014	MedGen:C0878684,OMIM:269880	SHORT syndrome	germline	5	68296248	AGAAGACATGGAATGTTGGAAGCAGCAACCGAAACAAAGCTGAAAACCTGTTGCGAGGGAA
201978571	176604	NM_016239.3(MYO15A):c.6046+1G>A	MYO15A	Oct 17, 2014	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	17	18143797	AGCTGGCTGGGCTCTTGCAAGCAGTGGCAGGTGGGTCAGCACCAGGCGGGGGGAGGGCCCA
80338851	16303	NM_194318.3(B3GLCT):c.660+1G>A	B3GLCT	Jun 14, 2016	MedGen:C0796012,OMIM:261540;MedGen:CN517202	Peters plus syndrome;not provided	germline	13	31269278	TCCGACTTTACAATAGATTTAAAACATGAGGTATGTCATGTTTTGTTTGATTAAAAATCTT
75961395	22182	NM_000492.3(CFTR):c.254G>A (p.Gly85Glu)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202	Cystic fibrosis;not provided	de novo;germline;unknown	7	117509123	GATGTTTTTTCTGGAGATTTATGTTCTATGGAATCTTTTTATATTTAGGGGTAAGGATCTC
-1	442161	NM_000435.2(NOTCH3):c.554G>A (p.Cys185Tyr)	NOTCH3	Mar 29, 2017	MedGen:CN517202	not provided	germline	19	15192085	TCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGA
281864846	432850	NM_000517.4(HBA2):c.179G>A (p.Gly60Asp)	HBA2	Apr 04, 2017	MedGen:CN517202	not provided	germline	16	173208	GCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGC
367658438	431651	NM_001029883.2(C2orf71):c.3002G>A (p.Trp1001Ter)	C2orf71	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	unknown	2	29071260	GCAGAAAGGCCTCTCCCACGAGGACACACTGGGTGCCTCAAGCAGACAAGAGGCGCCGGAG
1085307266	414204	NM_001204.6(BMPR2):c.852+1G>A	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202519053	TATTTGCTTGTGATGGAGTACTATCCCAATGTAAGTTCTTCATAGAAAATAAACTGAGGCC
397514673	49907	NM_002241.4(KCNJ10):c.524G>A (p.Arg175Gln)	KCNJ10	Aug 10, 2010	MedGen:C2748572,OMIM:612780,Orphanet:ORPHA199343	SeSAME syndrome	germline	1	160042009	TCCTGGCGAAGATTGCCCGGCCCAAGAAGCGGGCTGAGACCATTCGTTTCAGCCAGCATGC
-1	426847	NM_001171.5(ABCC6):c.3777G>A (p.Trp1259Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16157768	GCTGCCCACATGTGCAGCTCAGCCCCCCTGGCCTCAGGGCGGGCAGATCGAGTTCCGGGAC
28936684	23370	NM_000388.3(CASR):c.680G>A (p.Arg227Gln)	CASR	Aug 09, 2017	MedGen:C0342345,OMIM:601198;MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:CN517202	Hypocalcemia, autosomal dominant 1;Hypocalciuric hypercalcemia, familial, type 1;Hypocalciuric hypercalcemia, familial, type 1;not provided	germline	3	122261715	ACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCAT
547940069	21780	NM_175850.2(DNMT3B):c.2397-11G>A	DNMT3B	Oct 29, 1999	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	germline	20	32807751	GGCACTTCTGACTTGCTGTCTTTTCACTCCGGTACCCCCAGGATCTTTGGCTTTCCTGTGC
587783131	166514	NM_003159.2(CDKL5):c.99+5G>A	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	de novo;germline;unknown	X	18510859	GAGTTGTACTTAAATGCAGACACAAGGCAAGTACATTATTTTTAAAAAGAAATATCTGTAT
104886082	35683	NM_000495.4(COL4A5):c.920G>A (p.Gly307Asp)	COL4A5	Oct 31, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108581011	AGGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACCAGGAATTCCTGTAAGTAGCTAAGG
876660696	235758	NM_001042492.2(NF1):c.5991G>A (p.Trp1997Ter)	NF1	Sep 16, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31335016	GATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTC
111033364	17396	NM_206933.2(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A	Oct 27, 2016	Human Phenotype Ontology:HP:0008527,MedGen:C1865866;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151138,OMIM:613809;MedGen:C1848634,OMIM:276901;MedGen:CN517202	Congenital sensorineural hearing impairment;Hearing impairment;Retinitis pigmentosa;Retinitis pigmentosa 39;Usher syndrome, type 2A;not provided	germline;unknown	1	215728232	GTAACTCCAAGGGTTCAGTGGAGAGTCTGTGGTCATTAACACAAACTCTGGAAGCTCCACC
80358212	20047	NM_153212.2(GJB4):c.65G>A (p.Arg22His)	GJB4	Apr 01, 2003	MedGen:CN258420,OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	germline	1	34761319	GCGTGAACAAGTACTCCACAGTGCTGAGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCG
119103275	17286	NM_000433.3(NCF2):c.230G>A (p.Arg77Gln)	NCF2	Nov 01, 1999	MedGen:C1856245,OMIM:233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	germline	1	183586922	ACAAGCACTTGGCAGTGGCTTACTTCCAACGAGGGATGCTCTACTACCAGACAGAGAAGTA
397507449	34610	NM_172107.3(KCNQ2):c.1118+1G>A	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63433808	CGAGCGAACGGTCACCGTGCCCATGTACAGGTACCGCCGCCGGGCACCTGCCACCAAGCAA
200799769	48421	NM_001077416.2(TMEM231):c.784G>A (p.Asp262Asn)	TMEM231	May 20, 2017	MedGen:C3554235,OMIM:614970;MedGen:C3554235,OMIM:614970;MedGen:C3809352,OMIM:615397;MedGen:CN517202	Joubert syndrome 20;Joubert syndrome 20;Meckel syndrome, type 11;not provided	germline	16	75542641	AACGGGACCAGCCCCTTTGCCTATGACTACGACCTCACCCATATTGTTGCTGCCTACCAGG
727504494	174401	NM_000503.5(EYA1):c.428G>A (p.Trp143Ter)	EYA1	Apr 08, 2013	MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Melnick-Fraser syndrome	germline	8	71317680	AGCTATCACTAACTGATTTAGGTGCATTGTGGGCAGGCATCAAGACTGAAGGTGGATTGTC
28934592	27135	NM_000196.3(HSD11B2):c.623G>A (p.Arg208His)	HSD11B2	Dec 01, 1997	MedGen:C2936861,OMIM:218030	Apparent mineralocorticoid excess	germline	16	67436101	AGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGG
587778797	76779	NM_000784.3(CYP27A1):c.446+1G>A	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218809768	GCACGACCTGACCTATGGGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGG
80356860	46194	NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu)	BRCA1	Jul 24, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43063909	TGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTA
587777213	108175	NM_001040436.2(YARS2):c.137G>A (p.Gly46Asp)	YARS2	Mar 18, 2016	MedGen:C3150802,OMIM:613561;MedGen:CN517202	Myopathy, lactic acidosis, and sideroblastic anemia 2;not provided	germline	12	32755738	AGGGGTTACTGGCAGCGCAGAAGGCTCGAGGTCTGTTCAAGGACTTCTTCCCGGAGACGGG
-1	424466	NM_172079.2(CAMK2B):c.709G>A (p.Glu237Lys)	CAMK2B	Dec 08, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:CN679648,OMIM:617799	Intellectual disability;MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	de novo;germline	7	44242328	CGCTGTTTCCTTCTGCAGTTCCCGTCCCCTGAGTGGGACACCGTCACTCCTGAAGCCAAAA
81002837	46710	NM_000059.3(BRCA2):c.8331+1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	germline	13	32363534	CTTGAAGCCCCAGAATCTCTTATGTTAAAGGTAAATTAATTTGCACTCTTGGTAAAAATCA
118192176	28015	NM_000540.2(RYR1):c.6502G>A (p.Val2168Met)	RYR1	Nov 15, 2017	MedGen:CN031421,OMIM:145600;Human Phenotype Ontology:HP:0003789,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905;MedGen:CN239331;MedGen:CN517202	Malignant hyperthermia, susceptibility to, 1;Minicore myopathy;RYR1-Related Disorders;not provided	germline;maternal;unknown	19	38494579	TGCCTCGGCCAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCAGGAGGAGAACCTCA
-1	463822	NM_000059.3(BRCA2):c.8909G>A (p.Trp2970Ter)	BRCA2	Jun 06, 2017	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	13	32379471	AAGGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAA
121908876	21489	NM_000369.2(TSHR):c.1514G>A (p.Ser505Asn)	TSHR	Nov 01, 1997	MedGen:C1836706,OMIM:609152,Orphanet:ORPHA424	Hyperthyroidism, nonautoimmune	germline	14	81143572	ACACGGCTGGTTTCTTCACTGTCTTTGCAAGCGAGTTATCGGTGTATACGCTGACGGTCAT
727504537	176446	NM_001399.4(EDA):c.396+1G>A	EDA	Apr 11, 2013	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468	Hypohidrotic ectodermal dysplasia	germline	X	69616705	CTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCC
267607071	19217	NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln)	SMARCAL1	Oct 15, 2009	MedGen:C0877024,OMIM:242900,Orphanet:ORPHA1830	Schimke immunoosseous dysplasia	germline	2	216475315	GCATCGATGGCTCCACCTCATCAGCTGAGCGGGAGGACCTGTGCCAGCAGTTCCAACTGTC
121918491	28307	NM_000141.4(FGFR2):c.1032G>A (p.Ala344=)	FGFR2	Sep 17, 2016	Human Phenotype Ontology:HP:0001363,MedGen:C1849943;MedGen:C1867563;Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008;MedGen:C1867564	Craniosynostosis;Craniosynostosis, nonclassifiable autosomal dominant;Crouzon syndrome;Scaphocephaly and axenfeld-rieger anomaly	germline	10	121517371	TGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTGGGATATCCTTTCACTCT
-1	481347	NM_017780.3(CHD7):c.2858G>A (p.Trp953Ter)	CHD7	Sep 08, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60822046	TGAAACAGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAA
72656343	466991	NM_000088.3(COL1A1):c.3936G>A (p.Trp1312Ter)	COL1A1	Apr 17, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline	17	50186386	CACTCAGCCCAGTGTGGCCCAGAAGAACTGGTACATCAGCAAGAACCCCAAGGACAAGAGG
121908351	19962	NM_022124.5(CDH23):c.4021G>A (p.Asp1341Asn)	CDH23	May 31, 2016	MedGen:C1832394,OMIM:601386;MedGen:CN517202	Deafness, autosomal recessive 12;not provided	germline	10	71732292	GAGATTGTGCGGGTCCAGGCCTACTCCATCGACAACCTCAACCAAATCACGTACCGCTTCA
869312885	226600	NM_006060.5(IKZF1):c.551G>A (p.Arg184Gln)	IKZF1	Aug 25, 2016	MedGen:C4225173,OMIM:616873,Orphanet:ORPHA317473	Immunodeficiency, common variable, 13	germline	7	50382669	AATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGAC
794728194	197756	NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser)	FBN1	May 08, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48495162	ACCTTAAAGTCCCAGTGCTGCTCCTCCCTCGGTGCTGCGTGGGGAAGCCCGTGCACCCTAT
371848318	404649	NM_025077.3(TOE1):c.307G>A (p.Ala103Thr)	TOE1	Apr 15, 2017	MedGen:C3554226,OMIM:614969,Orphanet:ORPHA284339	Pontocerebellar hypoplasia, type 7	germline	1	45341543	AGGACCCGTTCTATCCTTTCCCTGGGCCTCGCCTGCTTCAAGCGGCAGCCAGACAAGGTAT
28935497	25864	NM_004463.2(FGD1):c.1829G>A (p.Arg610Gln)	FGD1	Mar 30, 2016	MedGen:C0175701,OMIM:305400,SNOMED CT:14921002;MedGen:CN517202	Aarskog syndrome;not provided	germline	X	54456233	TGTCAGCAAAGAATGGGACCACTCAAGACCGATACCTCATACTAGTAAGTGCCAGGCATGG
104886142	35796	NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5	May 11, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;Human Phenotype Ontology:HP:0100820,MedGen:C0268731,Orphanet:ORPHA93548;Human Phenotype Ontology:HP:0000822,MedGen:C0497247;Human Phenotype Ontology:HP:0012595,MedGen:C4022832;MedGen:CN517202	Alport syndrome, X-linked recessive;Glomerulopathy;Hypertension;Mild proteinuria;not provided	germline;inherited;unknown	X	108598793	CAGGGAATATAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAA
587779637	107115	NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188994288	CCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGAC
137852665	24151	NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys)	IGHMBP2	Sep 23, 2015	MedGen:C1858517,OMIM:604320,Orphanet:ORPHA98920;MedGen:C0043116,OMIM:253300,Orphanet:ORPHA83330,SNOMED CT:64383006;MedGen:CN517202	Spinal muscular atrophy, distal, autosomal recessive, 1;Werdnig-Hoffmann disease;not provided	germline	11	68934466	TGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGG
74315471	18113	NM_000487.5(ARSA):c.739G>A (p.Gly247Arg)	ARSA	Sep 08, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C4017094	Metachromatic leukodystrophy;Metachromatic leukodystrophy, severe	germline;maternal	22	50626706	GGGCAGAGCTTTGCAGAGCGTTCAGGCCGCGGGCCATTTGGGGACTCCCTGATGGAGCTGG
104886079	35677	NM_000495.4(COL4A5):c.884G>A (p.Gly295Asp)	COL4A5	Feb 17, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108580731	AAGGTGAGAAGGGTGAGCAAGGAGAGCCAGGCAAAAGAGTAAGTGATGTAACTGCTAATAT
113042313	376001	NM_000458.3(HNF1B):c.1108G>A (p.Gly370Ser)	HNF1B	Jun 01, 2015	MedGen:CN517202	not provided	germline	17	37710601	ATCACTTCCTCCTCAACAATCAGTCACCATGGCAACAGCGCCATGGTGACCAGCCAGTCGG
863224964	213822	NM_000070.2(CAPN3):c.499-1G>A	CAPN3	Aug 08, 2014	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42387752	ATGTGACTCTGTGCGTGACGCTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTG
730880447	179875	NM_000169.2(GLA):c.548-1G>A	GLA	Jul 31, 2014	MedGen:CN517202	not provided	germline	X	101400758	CCCTTATTTTACCCATTGTTTTCTCATACAGGTTATAAGCACATGTCCTTGGCCCTGAATA
886041965	264508	NM_001845.5(COL4A1):c.2672G>A (p.Gly891Asp)	COL4A1	Sep 09, 2016	MedGen:CN517202	not provided	germline	13	110177886	TGGGCGTCATGGGGACCCCCGGGCAGCCGGGCTCACCAGGACCAGTGGGTGCTCCTGGATT
28934891	15165	NM_000071.2(CBS):c.1330G>A (p.Asp444Asn)	CBS	Jul 19, 2017	na;MedGen:C3150344,OMIM:236200;MedGen:CN068394;MedGen:CN517202	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED;Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive;not provided	germline;unknown	21	43058862	ACCATCGAGATCCTCCGGGAGAAGGGCTTCGACCAGGCGCCCGTGGTGGATGAGGCGGGGT
387906700	38881	NM_000260.3(MYO7A):c.1184G>A (p.Arg395His)	MYO7A	Jun 01, 2010	MedGen:C1838701,OMIM:600060	Deafness, autosomal recessive 2	germline	11	77160266	CACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGA
397507922	67030	NM_000059.3(BRCA2):c.7617+1G>A	BRCA2	Jul 28, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32356610	CAAGTTCCCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTT
397508533	205620	NM_000492.3(CFTR):c.3294G>A (p.Trp1098Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117611735	CTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTC
748944640	245551	NM_000527.4(LDLR):c.418G>A (p.Glu140Lys)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105324	TCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTC
397514475	39506	NM_176787.4(PIGN):c.2126G>A (p.Arg709Gln)	PIGN	Jun 01, 2011	MedGen:C3279775,OMIM:614080,Orphanet:ORPHA280633	Multiple congenital anomalies-hypotonia-seizures syndrome 1	germline	18	62095902	CACTACTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTC
137852431	25279	NM_000132.3(F8):c.1957G>A (p.Val653Met)	F8	Feb 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154947854	AGTTTGCAGTTGTCAGTTTGTTTGCATGAGGTGGCATACTGGTACATTCTAAGCATTGGAG
104893659	28825	NM_013953.3(PAX8):c.170G>A (p.Cys57Tyr)	PAX8	Jan 01, 2001	Human Phenotype Ontology:HP:0008188,MedGen:C1563716,OMIM:218700	Thyroid agenesis	germline	2	113246775	TCTCTCGCCAGCTCCGCGTCAGCCATGGCTGCGTCAGCAAGATCCTTGGCAGGTAAGCACG
78532707	432426	NM_170726.2(ALDH4A1):c.866+1G>A	ALDH4A1	Nov 17, 2014	MedGen:C2931835,OMIM:239510,Orphanet:ORPHA79101,SNOMED CT:124177001	Deficiency of pyrroline-5-carboxylate reductase	maternal	1	18881699	CTGTGGCATCAACTTCACAGGCAGTGTGCCGTAAGTCCCTGGGGATGGTGTAGGCTGTGGT
199476141	24655	m.4332G>A	MT-TQ	Feb 13, 2001	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	germline	MT	4332	ATAATAGGAGCTTAAACCCCCTTATTTCTAGGACTATGAGAATCGAACCCATCCCTGAGAA
121912631	20572	NM_014249.3(NR2E3):c.166G>A (p.Gly56Arg)	NR2E3	Jul 22, 2016	MedGen:C1970163,OMIM:611131;MedGen:CN517202	Retinitis pigmentosa 37;not provided	germline	15	71811530	CAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACG
281865077	20322	NM_000195.4(HPS1):c.398+5G>A	HPS1	Oct 11, 2012	MedGen:C2931875,OMIM:203300	Hermansky-Pudlak syndrome 1	germline	10	98435267	GTGGACGGTCATCTTATCCGAAAGGAGTGAGTCTTCAAAGCTGGTCCCCTCTGTCCTTTGC
886039472	259867	NM_001101.4(ACTB):c.617G>A (p.Arg206Gln)	ACTB	Jun 16, 2016	MedGen:CN517202	not provided	germline	7	5528466	GCGGCTACAGCTTCACCACCACGGCCGAGCGGGAAATCGTGCGTGACATTAAGGAGAAGCT
121909683	31245	NM_000821.6(GGCX):c.763G>A (p.Val255Met)	GGCX	Mar 01, 2009	MedGen:C1835813,OMIM:610842,Orphanet:ORPHA91135	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	germline	2	85554269	TTGTCTGAGGAGCTGACTAGCCTGCTGGTCGTGCACTGGGGTGGGCTGCTGCTTGACCTCT
374718902	359576	NM_000094.3(COL7A1):c.5344G>A (p.Gly1782Arg)	COL7A1	Nov 10, 2016	MedGen:CN517202	not provided	germline	3	48579241	CGGGGTCCCCCTGGGCTGGATGGCCGGAGCGGACTGGATGGGAAACCAGGAGCCGCTGGGC
104894652	17957	NM_173477.4(USH1G):c.113G>A (p.Trp38Ter)	USH1G	Mar 01, 2005	MedGen:C1847089,OMIM:606943	Usher syndrome, type 1G	germline	17	74922961	CCGACGAGGATGGCATGACCCCCACTCTCTGGGCTGCCTACCATGGCAACCTCGAGTCGCT
56144125	202586	NM_000391.3(TPP1):c.509-1G>A	TPP1	May 18, 2017	MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007;MedGen:CN517202	Neuronal ceroid lipofuscinosis;not provided	germline	11	6617154	AGATCTCCTCAAGCCTGACTTCTCCCTACAGTGGGGGGACTGCACCGTTTTCCCCCAACAT
137852959	19587	NM_153638.3(PANK2):c.1561G>A (p.Gly521Arg)	PANK2	Jun 16, 2017	MedGen:C1846582,OMIM:607236;MeSH:D030342,MedGen:C0950123;MedGen:C2751506;MedGen:C0018523,OMIM:234200,Orphanet:ORPHA157850,SNOMED CT:2992000;MedGen:CN517202	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration;Inborn genetic diseases;Neurodegeneration with brain iron accumulation 1, atypical;Pigmentary pallidal degeneration;not provided	biparental;germline;inherited;maternal	20	3918695	GCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCA
111033704	36517	NM_000155.3(GALT):c.462G>A (p.Trp154Ter)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647916	CCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAG
61754365	105464	NM_000372.4(TYR):c.650G>A (p.Arg217Gln)	TYR	May 15, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178603	TTCTGCCTTGGCATAGACTCTTCTTGTTGCGGTGGGAACAAGAAATCCAGAAGCTGACAGG
1057519492	362180	NM_001033053.2(NLRP1):c.160G>A (p.Ala54Thr)	NLRP1	Feb 01, 2017	Gene:107988031,MedGen:C3808876,OMIM:615225,OMIM:616964	Palmoplantar carcinoma, multiple self-healing	germline	17	5583798	CAGCCAGAGAAGACGAGTGGCATGGAGGTGGCCTCGTACCTGGTGGCTCAGTATGGGGAGC
387907243	45579	NM_001382.3(DPAGT1):c.349G>A (p.Val117Ile)	DPAGT1	Nov 08, 2012	MedGen:C3553645,OMIM:614750	Congenital myasthenic syndrome 13	germline	11	119100777	TGCATGATCTTCCTGGGCTTTGCGGATGATGTACTGAATCTGCGCTGGCGCCATAAGCTGC
397514724	75091	NM_080605.3(B3GALT6):c.649G>A (p.Gly217Ser)	B3GALT6	Jun 06, 2013	MedGen:C4017378	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures	germline	1	1232927	GACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACT
119103246	17371	NM_033071.3(SYNE1):c.24071G>A (p.Arg8024His)	SYNE1	Dec 01, 2007	MedGen:C2751807,OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	germline	6	152151987	GCAACCAGAGATGGGACAACCTGCAAAAGCGTGTCACCTCCATCTTGCGCAGACTCAAGGT
886039664	260263	NM_006941.3(SOX10):c.425G>A (p.Trp142Ter)	SOX10	Jun 10, 2016	MedGen:CN517202	not provided	germline	22	37983360	CTGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTGAGCACCCGACCGCCCCCCGGGCTC
150346282	177307	NM_000033.3(ABCD1):c.1825G>A (p.Glu609Lys)	ABCD1	Jul 11, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153743031	TGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGT
81002849	66468	NM_000059.3(BRCA2):c.517-1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32326498	ATAAAAAATAAACTATTTTCTTTCCTCCCAGGGTCGTCAGACACCAAAACATATTTCTGAA
587777669	153824	NM_031372.3(HNRNPDL):c.1132G>A (p.Asp378Asn)	HNRNPDL	Aug 01, 2014	Gene:553991,MedGen:C1836765,OMIM:609115,Orphanet:ORPHA55596	Limb-girdle muscular dystrophy, type 1G	germline	4	82426523	GATCAAAACTATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTATGGGAACTATG
104894213	21823	NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter)	DHCR7	Apr 01, 2008	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline	11	71441400	CAAGTATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCAAAC
387907054	39877	NM_152722.4(HEPACAM):c.266G>A (p.Gly89Asp)	HEPACAM	Apr 08, 2011	MedGen:C4017257	Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation	germline	11	124924889	TGGTGCAGTCCATTGGCACAGAGGTCATCGGCACCCTGCGGCCTGACTATCGAGACCGTAT
796052888	202959	NM_002693.2(POLG):c.2558G>A (p.Arg853Gln)	POLG	Sep 01, 2016	MedGen:CN517202	not provided	germline	15	89321776	AAGTGGTGACTGCCGGCACCATCACTCGCCGGGCTGTGGAGCCCACATGGCTCACCGCCAG
869312698	225866	NM_001131005.2(MEF2C):c.71G>A (p.Arg24Lys)	MEF2C	Aug 07, 2015	MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	de novo	5	88804785	TTTCTTTTTTCTAGGTGACATTTACAAAGAGGAAATTTGGGTTGATGAAGAAGGCTTATGA
796053129	201361	NM_021007.2(SCN2A):c.3944G>A (p.Arg1315Lys)	SCN2A	Oct 23, 2013	MedGen:CN517202	not provided	germline	2	165373319	TCAGAACACTAAGAGCTCTGAGGCCACTGAGAGCTTTGTCCCGGTTTGAAGGAATGAGGGT
398122362	94419	NM_052813.4(CARD9):c.214G>A (p.Gly72Ser)	CARD9	Mar 28, 2013	MedGen:C1859353,OMIM:212050,Orphanet:ORPHA457088	Candidiasis, familial, 2	germline	9	136371432	GGTGTGCTCCTGGACATCCTGCAGCGGACCGGCCACAAGGGCTACGTGGCCTTCCTCGAGA
767361165	445137	NM_194318.3(B3GLCT):c.459+1G>A	B3GLCT	Dec 02, 2015	MedGen:CN517202	not provided	germline	13	31247967	GAAACCCTCAGAAGATATGACCCCTCTAAGGTGAATATAACTTCAATACCAGTTCTTATTT
797045125	40329	NM_005850.4(SF3B4):c.913+1G>A	SF3B4	Sep 07, 2012	Gene:171,MedGen:C0265245,OMIM:154400,SNOMED CT:35520007	Nager syndrome	germline;unknown	1	149925835	CATTCCCACCGGGTGGGATGCCCCATCCAGGTAGGTGTGCTTTGTTGGGAAAGGGAGGGAA
144574243	360242	NM_033419.4(PGAP3):c.694+1G>A	PGAP3	Nov 25, 2016	MedGen:CN517202	not provided	germline	17	39673513	GCTACAACCTGGTGGCCAACGTGGCTATTGGTGAGGCCCTGGGGGGCTTGGGCCATCTGCA
139617644	187118	NM_006019.3(TCIRG1):c.1674-1G>A	TCIRG1	Jan 15, 2015	MedGen:C1850127,OMIM:259700	Osteopetrosis autosomal recessive 1	germline	11	68049080	CCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCT
121908551	20948	NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)	SCN4A	May 04, 2016	MedGen:C1868617,OMIM:168300;na;MedGen:CN517202	Paramyotonia congenita of von Eulenburg;SCN4A-related disorder;not provided	germline;unknown	17	63944708	TCCTTCTTCACCCTCAACCTCTTCATTGGCGTCATCATTGACAACTTCAACCAGCAGAAGA
869312685	225849	NM_001168272.1(ITPR1):c.7739G>A (p.Gly2580Glu)	ITPR1	Mar 10, 2015	MedGen:C1847725,OMIM:606658,Orphanet:ORPHA98769	Spinocerebellar ataxia 15	de novo	3	4815135	TCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAG
121912920	32260	NM_000090.3(COL3A1):c.2410G>A (p.Gly804Ser)	COL3A1	Sep 01, 1994	na	EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT	germline	2	189002316	TTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTG
587783050	166264	NM_004360.4(CDH1):c.1137G>A (p.Thr379=)	CDH1	Jul 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	germline;unknown	16	68812263	CGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCA
72554327	103028	NM_000531.5(OTC):c.217-1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38369795	TTTTAATTCTATTCTTGTCCTTGATTTATAGTATTTGCCTTTATTGCAAGGGAAGTCCTTA
794726765	365652	NM_001165963.1(SCN1A):c.1170+1G>A	SCN1A	Aug 17, 2017	MedGen:CN517202	not provided	germline	2	166047626	CAGGACTTCTGGGAAAATCTTTATCAACTGGTGAGAACTAAAGAGCCACACTCTCCATTTA
33991059	433088	NM_000518.4(HBB):c.113G>A (p.Trp38Ter)	HBB	Jan 24, 2017	MedGen:CN169374	not specified	germline	11	5226779	CCACCCTTAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGA
797044847	204477	NM_004862.3(LITAF):c.385G>A (p.Ala129Thr)	LITAF	Dec 18, 2014	MedGen:C0270913,OMIM:601098,Orphanet:ORPHA101083,SNOMED CT:4183003	Charcot-Marie-Tooth disease, type 1C	germline	16	11549738	CGTGTGTCTCTCTCTCCTCCCAGGTGCATAGCGGGCTGCTGCTTCATCCCCTTCTGCGTGG
77804083	24212	NM_000344.3(SMN1):c.305G>A (p.Trp102Ter)	SMN1	Feb 01, 2001	MedGen:C0152109,OMIM:253400,Orphanet:ORPHA83419,SNOMED CT:54280009;MedGen:C0393538,OMIM:253550,Orphanet:ORPHA83418,SNOMED CT:128212001	Kugelberg-Welander disease;Spinal muscular atrophy, type II	germline	5	70942389	GGAAAGTTGGGGACAAATGTTCTGCCATTTGGTCAGAAGACGGTTGCATTTACCCAGCTAC
121918239	16473	NM_001177317.1(SLC34A3):c.756G>A (p.Gln252=)	SLC34A3	Oct 01, 2006	MedGen:C0342645,OMIM:241530,SNOMED CT:237891005	Autosomal recessive hypophosphatemic bone disease	germline	9	137233404	GACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGA
121912932	32228	NM_000093.4(COL5A1):c.4466G>A (p.Gly1489Glu)	COL5A1	Aug 14, 2000	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009	Ehlers-Danlos syndrome, classic type	germline	9	134820135	TTTTCCCACAGGGTCATCCAGGCCTGATCGGGCTCATCGGTCCTCCGGGTGAACAGGGTGA
74315365	28044	NM_021133.3(RNASEL):c.3G>A (p.Met1Ile)	RNASEL	Feb 01, 2002	MedGen:C2931456,OMIM:601518,Orphanet:ORPHA1331	Prostate cancer, hereditary, 1	germline	1	182586804	AAAGTGGTAGCAGGTGGCATTTACCGTCATGGAGAGCAGGGATCATAACAACCCCCAGGAG
879255145	246524	NM_000527.4(LDLR):c.2132G>A (p.Cys711Tyr)	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11120514	GCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCT
1057520032	453713	NM_000222.2(KIT):c.1670G>A (p.Trp557Ter)	KIT	May 08, 2017	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890	Gastrointestinal stroma tumor	germline	4	54727438	CCCCACAGAAACCCATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAA
121909797	22792	NM_001017535.1(VDR):c.137G>A (p.Gly46Asp)	VDR	Jul 01, 1996	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47878977	TCAATGCTATGACCTGTGAAGGCTGCAAAGGCTTCTTCAGGTGAGCCCTCCTCCCAGGCTC
879254471	245486	NM_000527.4(LDLR):c.314-1G>A	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11105219	GATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTC
121434228	18457	NM_006147.3(IRF6):c.1137G>A (p.Trp379Ter)	IRF6	Oct 01, 2003	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209789709	TGAGATCTACTTATGCTTTGGGGAAGAATGGCCAGATGGGAAACCATTGGAAAGGAAACTC
154774634	39557	NM_017882.2(CLN6):c.308G>A (p.Arg103Gln)	CLN6	May 13, 2011	MedGen:C0022797,OMIM:204300,SNOMED CT:62009002;MedGen:CN517202	Adult neuronal ceroid lipofuscinosis;not provided	germline	15	68211853	AACCCCACTCTGAACCCCAGCTCATCGAGCGGTCCCCCCGCACCCTGCCACGCTCCATCAC
386833744	203265	NM_001042432.1(CLN3):c.988G>A (p.Val330Ile)	CLN3	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:CN517202	Retinitis pigmentosa;not provided	germline;unknown	16	28482173	CTCAGGTACCAGATGCTGTACCAGGCTGGCGTCTTTGCCTCCCGCTCTTCTCTCCGCTGCT
780265931	419011	NM_025139.5(ARMC9):c.1474G>A (p.Gly492Arg)	ARMC9	Aug 16, 2017	MedGen:CN262509;MedGen:CN399089,OMIM:617622	ARMC9-related Joubert syndrome;JOUBERT SYNDROME 30	germline;maternal	2	231276775	TTGCTCATGAACCTCTGCCTCCGCAGCACAGGTCTCAGCCCCGACCCTCATTCTAGTGCAA
113994125	15736	NM_001145320.1(ADAMTSL2):c.2586G>A (p.Trp862Ter)	ADAMTSL2	Apr 19, 2012	MedGen:C3278147,OMIM:231050,SNOMED CT:28557005	Geleophysic dysplasia 1	germline	9	133570501	GCCCTGCTTCAAGTGGTACACCAGCCCCTGGTCAGAGGTGAGCTCCCAGCCGGCCCCTCTG
111033283	52497	NM_000260.3(MYO7A):c.640G>A (p.Gly214Arg)	MYO7A	May 18, 2017	MedGen:C1832475,OMIM:601317;MedGen:C1838701,OMIM:600060;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Deafness, autosomal dominant 11;Deafness, autosomal recessive 2;Usher syndrome, type 1;Usher syndrome, type 1	germline;unknown	11	77156909	ACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGC
587779422	106853	NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991727	GACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACC
572314014	247699	NM_014321.3(ORC6):c.449+5G>A	ORC6	Aug 26, 2016	MedGen:C3151113,OMIM:613803	Meier-Gorlin syndrome 3	germline	16	46693187	TCTGCTGCACTGCTTTCAGCATGCAAGTAGGTATTTCATTAAACATTCAGAAAAGTTACCA
143853590	39101	NM_005921.1(MAP3K1):c.1846G>A (p.Gly616Arg)	MAP3K1	Dec 10, 2010	MedGen:C3151064,OMIM:613762	46,XY sex reversal, type 6	germline	5	56875191	TCTGGGGGCAGCAGTGGAAGCAGCCCGAGTGGGGGAGCCACCAGTGGGTCTTCCCAGACCA
587777688	165473	NM_005726.5(TSFM):c.944G>A (p.Cys315Tyr)	TSFM	Sep 30, 2016	MedGen:C1864840,OMIM:610505,Orphanet:ORPHA168566;MedGen:CN517202	Combined oxidative phosphorylation deficiency 3;not provided	germline	12	57796549	TGTCGGTAGTAGACTTTGTGCGGTTTGAATGTGGAGAAGGTGAAGAGGCAGCAGAAACTGA
63750206	95466	NM_000249.3(MLH1):c.199G>A (p.Gly67Arg)	MLH1	Jun 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline;unknown	3	36996701	AAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGC
886039648	259702	NM_021007.2(SCN2A):c.4308+1G>A	SCN2A	Jun 02, 2016	MedGen:CN517202	not provided	germline	2	165377651	ATTATGTATGCAGCTGTTGATTCACGAAATGTAAGTCTAGTTAGAGGGAAATTGTTTAGTT
267607216	17797	NM_014319.4(LEMD3):c.2564G>A (p.Trp855Ter)	LEMD3	Jun 01, 2009	MedGen:C0265514,OMIM:166700,Orphanet:ORPHA1306,SNOMED CT:60399005	Dermatofibrosis lenticularis disseminata	germline	12	65245931	GAAAGGCTTTTAAAGCATTGCATGGCTCTTGGTTTGATGGTAAGAAATTTGAGTACTACAA
121918149	15704	NM_000312.3(PROC):c.226G>A (p.Val76Met)	PROC	Mar 15, 1992	MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127421438	TTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCC
281874714	35963	NM_000495.4(COL4A5):c.3373+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108655458	AAGGACAACCAGGCCTTCCTGGATTCCCAGGTAAAATTTCTTCTCTTAAATGCTTCCTTCT
121918719	27520	NM_000359.2(TGM1):c.428G>A (p.Arg143His)	TGM1	Nov 01, 2006	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24261775	AGTATGAGTACGACGAGCTGATAGTGCGCCGCGGGCAGCCTTTCCATATGCTCCTCCTCCT
-1	440661	NM_000092.4(COL4A4):c.2110G>A (p.Gly704Arg)	COL4A4	Aug 31, 2016	MedGen:CN517202	not provided	germline	2	227060190	CAAGGTGCCCCTGGGCTGAGTGGTTCAGATGGGCATAAAGGCAGACCTGGCACACCAGGAA
121907967	18955	NM_000520.5(HEXA):c.987G>A (p.Trp329Ter)	HEXA	Apr 01, 1992	MedGen:C2749283	Gm2-gangliosidosis, variant b1	germline	15	72348134	GATTAATCTTCATTTTCTCTTGGGATTCAGGAAGTCCAACCCAGAGATCCAGGACTTTATG
121908554	20954	NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu)	SCN4A	Apr 01, 2000	MedGen:C1868617,OMIM:168300	Paramyotonia congenita of von Eulenburg	germline	17	63941915	TGTTCCGTGTGATCCGCCTGGCGCGGATTGGGCGTGTCCTGCGGCTGATCCGCGGGGCCAA
9332961	450863	NM_000348.3(SRD5A2):c.607G>A (p.Gly203Ser)	SRD5A2	Apr 23, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31529398	AATTTCCTCGGTGAGATCATTGAATGGATCGGCTATGCCCTGGCCACTTGGTCCCTCCCAG
879254760	245930	NM_000527.4(LDLR):c.1028G>A (p.Gly343Asp)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11110739	AGATCGGCTACGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGA
397507891	241702	NM_000059.3(BRCA2):c.7007+1G>A	BRCA2	Dec 06, 2015	MedGen:C0677776,Orphanet:ORPHA145	Hereditary breast and ovarian cancer syndrome	germline	13	32346897	TTTAGAGCCGATTACCTGTGTACCCTTTCGGTAAGACATGTTTAAATTTTTCTAAATTCTA
72657692	426902	NM_001171.5(ABCC6):c.2974G>A (p.Gly992Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16169667	ACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCCTCGGCTGTCTCCAAGGTACGCCTC
199422291	47730	NM_198253.2(TERT):c.430G>A (p.Val144Met)	TERT	Mar 18, 2016	MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000;MedGen:CN517202	Idiopathic fibrosing alveolitis, chronic form;not provided	germline	5	1294456	AGCGGGGCGTGGGGGCTGCTGCTGCGCCGCGTGGGCGACGACGTGCTGGTTCACCTGCTGG
62642939	98657	NM_000277.2(PAH):c.890G>A (p.Arg297His)	PAH	Aug 11, 2017	Human Phenotype Ontology:HP:0004923,MedGen:C0751435;MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Hyperphenylalaninemia, non-pku;Phenylketonuria;not provided	germline;unknown	12	102851709	TGTTGGGACATGTGCCCTTGTTTTCAGATCGCAGCTTTGCCCAGTTTTCCCAGGTAAGGAA
758439420	259254	NM_000400.3(ERCC2):c.2048G>A (p.Arg683Gln)	ERCC2	Sep 26, 2016	MedGen:C0268138,OMIM:278730,SNOMED CT:68637004	Xeroderma pigmentosum, group D	germline	19	45352351	CTGTCCCTGGCCTGCGCTTCTGCCCACAGCGGTTTGCCCGTGGGGACAAGCGGGGGAAGCT
149712244	169780	NM_003560.3(PLA2G6):c.1799G>A (p.Arg600Gln)	PLA2G6	Nov 15, 2017	Human Phenotype Ontology:HP:0012675,MedGen:C4021076;MedGen:C1857747,OMIM:610217;MedGen:CN517202	Iron accumulation in brain;Neurodegeneration with brain iron accumulation 2b;not provided	germline;inherited	22	38116155	ACCGGCAGCCGGCTGAACTCCACCTCTTCCGGAACTACGATGCTCCAGAAACTGTCCGGGA
797044558	205055	NM_004299.5(ABCB7):c.2047G>A (p.Gly683Ser)	ABCB7	-	MedGen:CN232400	Spinocerebellar ataxia, X-linked	maternal	X	75053585	CTCCGTGTTTCTCATGTGTTTACTTTTTAGGGTAAGGTAGCCGAACGTGGTACCCACCATG
61749397	15329	NM_000552.4(VWF):c.3946G>A (p.Val1316Met)	VWF	Oct 13, 2016	MedGen:CN517202;MedGen:CN169374;MedGen:C1282971,Orphanet:ORPHA166087	not provided;not specified;von Willebrand disease, type 2b	germline	12	6019472	CGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCC
121909218	22851	NM_000314.6(PTEN):c.386G>A (p.Gly129Glu)	PTEN	Mar 01, 2017	MedGen:CN072330,OMIM:158350;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	Cowden syndrome 1;PTEN hamartoma tumor syndrome;not provided	de novo;germline;maternal	10	87933145	TTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTT
1131690974	420477	NM_000264.4(PTCH1):c.1379G>A (p.Trp460Ter)	PTCH1	Nov 06, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	9	95477671	TCGCCTATGCCTGTCTAACCATGCTGCGCTGGGACTGCTCCAAGTCCCAGGGTGCCGTGGG
104886153	35811	NM_000495.4(COL4A5):c.1997G>A (p.Gly666Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108601441	GTCAGACTATAACCCAGCCGGGGAAGCCTGGCTTGCCTGGTAACCCAGGCAGAGATGGTGA
587776739	25819	NM_003916.4(AP1S2):c.288+5G>A	AP1S2	Nov 01, 2007	MedGen:C0796254,OMIM:304340,Orphanet:ORPHA1568	Pettigrew syndrome	germline	X	15845898	AATTACTTGACAAGTATTTCGGCAGTGTGAGTAGTATTTTATTTTAGGAAATTGAATGCCA
794728170	197794	NM_000138.4(FBN1):c.1583G>A (p.Cys528Tyr)	FBN1	Jun 24, 2014	MedGen:CN517202	not provided	germline	15	48513554	GATATCAGAGCACACTCACGCGGACAGAATGCCGAGGTATGGTCCTGGCTCCTGACGTGGA
886044450	274662	NM_001128834.2(PLP1):c.453G>A (p.Lys151=)	PLP1	Sep 06, 2016	Human Phenotype Ontology:HP:0003269,MedGen:C0205711,OMIM:312080,Orphanet:ORPHA702,SNOMED CT:64855000	Pelizaeus-Merzbacher disease	germline	X	103786726	TTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCTCAGGATTTTGTGGCAATAA
81002882	67377	NM_000059.3(BRCA2):c.8953+1G>A	BRCA2	Jun 06, 2016	MedGen:C2675520,OMIM:612555;MedGen:CN517202	Breast-ovarian cancer, familial 2;not provided	germline	13	32379516	TAAGCTATTCAAAAAAAGAAAAAGATTCAGGTAAGTATGTAAATGCTTTGTTTTTATCAGT
281865277	105675	NM_004183.3(BEST1):c.934G>A (p.Asp312Asn)	BEST1	Aug 19, 2016	MedGen:CN517202	not provided	germline	11	61959564	GATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAG
886042902	268797	NM_001848.2(COL6A1):c.930+1G>A	COL6A1	Dec 01, 2015	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45989779	TAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTC
121907948	18985	NM_000062.2(SERPING1):c.1397G>A (p.Arg466His)	SERPING1	Jan 24, 2017	MedGen:C1862892,Orphanet:ORPHA100051,SNOMED CT:234620006;MedGen:CN517202	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor;not provided	germline	11	57614475	CGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCC
200724875	98179	NM_000016.5(ACADM):c.617G>A (p.Arg206His)	ACADM	Oct 04, 2016	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75745823	GTGTATCTCTTAGGTATTTTTTATTGGCACGTTCTGATCCAGATCCTAAAGCTCCTGCTAA
80338850	16304	NM_194318.3(B3GLCT):c.347+5G>A	B3GLCT	Feb 17, 2011	MedGen:C0796012,OMIM:261540	Peters plus syndrome	germline	13	31247104	TGGACCATACTTCCGTTGTTACCGCAGTACGTTTGTTTAACTCACCTGTGAATTACTGACA
587777829	27184	NM_024649.4(BBS1):c.432+1G>A	BBS1	Sep 09, 2016	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;MedGen:C2936862	Bardet-Biedl syndrome;Bardet-Biedl syndrome 1	germline;unknown	11	66514679	GAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAG
66642398	103149	NM_000531.5(OTC):c.586G>A (p.Asp196Asn)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403663	CTGAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACTCCATCATGA
199473565	78528	NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn)	SCN5A	Feb 20, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN221547;MedGen:CN517202	Brugada syndrome;Brugada syndrome (shorter-than-normal QT interval);not provided	germline	3	38606743	GAGAACCCCGACCACGGCTACACCAGCTTCGATTCCTTTGCCTGGGCCTTTCTTGCACTCT
267608673	49664	NM_007055.3(POLR3A):c.1114G>A (p.Asp372Asn)	POLR3A	Aug 02, 2012	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	not provided	10	78021617	GATTTTTCTGGCAGAACAGTCATCTCGCCCGACCCCAACCTCCGGATTGATGAGGTAGCTG
137852267	25663	NM_000133.3(F9):c.1324G>A (p.Gly442Arg)	F9	Sep 11, 2013	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139562009	GGTGAAGAGTGTGCAATGAAAGGCAAATATGGAATATATACCAAGGTATCCCGGTATGTCA
778702777	216050	NM_000255.3(MUT):c.607G>A (p.Gly203Arg)	MUT	Jan 07, 2016	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49457837	ATTCCAGTTCTTGCAAATTTTATAGTAACTGGAGAAGAACAAGGTGTACCTAAAGAGAAGC
587779663	107157	NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189001451	CCTGGCCCAGCTGGCCAGCCTGGAGATAAGGTAACCCTTAATACTACCTGGATATAAAAAG
398122942	76919	NM_001151.3(SLC25A4):c.111+1G>A	SLC25A4	Feb 01, 2012	MedGen:C3809443,OMIM:615418	Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive	germline	4	185143484	CCCATCGAGAGGGTCAAACTGCTGCTGCAGGTGAGGACCGCGCGGTGCAAGAGGCGGGCGC
727504022	177846	NM_000255.3(MUT):c.280G>A (p.Gly94Arg)	MUT	Dec 04, 2013	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459187	GAACTTCCAGGAGTGAAGCCATTCACACGTGGACCATATCCTACCATGTATACCTTTAGGC
104893963	32023	NM_000165.4(GJA1):c.61G>A (p.Gly21Arg)	GJA1	Feb 01, 2003	MedGen:C0812437,OMIM:164200	Oculodentodigital dysplasia	germline	6	121446908	CTTGACAAGGTTCAAGCCTACTCAACTGCTGGAGGGAAGGTGTGGCTGTCAGTACTTTTCA
80338901	26909	NM_000137.2(FAH):c.1062+5G>A	FAH	Jun 16, 2017	Human Phenotype Ontology:HP:0003231,MedGen:C1879362;MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006;MedGen:CN517202	Hypertyrosinemia;Tyrosinemia type I;not provided	germline;unknown	15	80180230	TGGCTTCTGGGACCATCAGCGGGCCGGTGAGTATCTGGCTGCACTGAGGGCTGCCCACGCA
267607514	77412	NM_002055.4(GFAP):c.994G>A (p.Glu332Lys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;Alexander's disease;not provided	germline	17	44911369	GCCAGTTATCAGGAGGCGCTGGCGCGGCTGGAGGAAGAGGGGCAGAGCCTCAAGGACGAGA
59285727	31209	NM_002055.4(GFAP):c.236G>A (p.Arg79His)	GFAP	Nov 08, 2016	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;Alexander's disease;not provided	germline	17	44915251	AGCGGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTACATCGAGAAGGTTCGCTT
111569862	172349	NM_170707.3(LMNA):c.1609-1G>A	LMNA	Feb 09, 2016	MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Limb-girdle muscular dystrophy, type 1B;Primary dilated cardiomyopathy;not provided	germline	1	156137653	ACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCA
80356914	70276	NM_007294.3(BRCA1):c.5511G>A (p.Trp1837Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43045759	GTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGC
193929355	34055	NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys)	KCNJ11	Feb 08, 2013	Human Phenotype Ontology:HP:0000819,MedGen:C0011849,SNOMED CT:73211009;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Diabetes mellitus;Permanent neonatal diabetes mellitus	germline	11	17387128	GGCCAGCGCTTTGTGCCCATTGTAGCTGAGGAGGACGGACGTTACTCTGTGGACTACTCCA
886044737	237676	NM_000350.2(ABCA4):c.3813G>A (p.Glu1271=)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline;unknown	1	94037145	TTTTGGAATTTCTGACACTCCCCTGGAAGAGGTAAAGTAGAGATTCCAGCTGGTTTCTGTC
121908797	44521	NM_000492.3(CFTR):c.2988G>A (p.Gln996=)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Cystic fibrosis;Hereditary pancreatitis	germline;unknown	7	117606753	TCTGCCTCTTACCATATTTGACTTCATCCAGGTATGTAAAAATAAGTACCGTTAAGTATGT
121434416	21645	NM_006702.4(PNPLA6):c.2669G>A (p.Arg890His)	PNPLA6	Mar 01, 2008	MedGen:C2677586,OMIM:612020,Orphanet:ORPHA139480	Spastic paraplegia 39	germline	19	7555041	GCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAA
387907080	39955	NM_025099.5(CTC1):c.775G>A (p.Val259Met)	CTC1	Jan 22, 2012	MedGen:C2677299,OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts 1	germline	17	8237392	CTTGGTAGATCACACCCAGCTGTCACCCACGTGTCCATCATCGTGCAGGTGAGGACTGGGG
113994137	33345	NM_139276.2(STAT3):c.1268G>A (p.Arg423Gln)	STAT3	Jun 07, 2012	MedGen:C0022398,OMIM:147060,SNOMED CT:50926003	Hyperimmunoglobulin E syndrome	germline	17	42329423	TGAGGGAGCAGAGATGTGGGAATGGGGGCCGAGCCAATTGTGATGTAAGTTTTGTTGGGGA
104894019	29928	NM_000522.4(HOXA13):c.1107G>A (p.Trp369Ter)	HOXA13	Feb 01, 1997	MedGen:C1841679,OMIM:140000,Orphanet:ORPHA2438	Hand foot uterus syndrome	germline	7	27198258	GAATCTCTCTGAGCGGCAGGTCACAATCTGGTTCCAGAACAGGAGGGTTAAAGAGAAAAAA
587776975	59812	NM_001242896.1(DEPDC5):c.4107G>A (p.Trp1369Ter)	DEPDC5	Feb 19, 2015	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31893655	CGTGAACAACCGCACAGACCGGCTGGAGTGGTGCAGCTGTTATTACCATGGCAACTTTTCT
745672593	404860	NM_001243093.1(FYB1):c.423G>A (p.Trp141Ter)	FYB1	Apr 21, 2017	MedGen:C2678311,OMIM:273900	Thrombocytopenia 3	germline	5	39202568	CAAAGAAGATTCCAAACCTACATTTCCCTGGCCTCCTGGAAACAAGCCATCTCTTCACAGT
587779559	107011	NM_000090.3(COL3A1):c.2915G>A (p.Gly972Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004348	CAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCAT
587783491	169234	NM_004380.2(CREBBP):c.4133+1G>A	CREBBP	Oct 30, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3740398	GGTGGAGGTCAAGCCCGGGATGAAGTCACGGTCAGTGTGCCTGCTCTCTACAGTGCTCTGC
797044435	20893	NM_022336.3(EDAR):c.51+1G>A	EDAR	Oct 01, 2004	MedGen:C0406702,OMIM:224900,Orphanet:ORPHA248,SNOMED CT:27025001	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	germline	2	108930963	ACGCAGACGCCCTGGCTCCCCGTCCTGGTGGTAAGTGGTCTGAGCCCCTTACCCCCACAGC
151344520	20509	NM_006796.2(AFG3L2):c.2071G>A (p.Glu691Lys)	AFG3L2	May 17, 2011	MedGen:C1853249,OMIM:610246,Orphanet:ORPHA101109	Spinocerebellar ataxia 28	germline	18	12337445	GGGGACATGGTATTGGAGAAACCTTACAGTGAAGCCACTGCAAGATTGATAGATGATGAAG
74315390	22421	NM_172107.3(KCNQ2):c.916G>A (p.Ala306Thr)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63439609	ACCTTCACCCTCATCGGTGTCTCCTTCTTCGCGCTGCCTGCAGTAAGTCCAGCTGCCCCTG
375628303	442968	NM_001271208.1(NEB):c.3255+1G>A	NEB	Aug 29, 2016	MedGen:C1850569,OMIM:256030;MedGen:CN517202	Nemaline myopathy 2;not provided	germline	2	151679720	GCCAAAGCTGCCAGGCAGGCGGCGAGTGACGTAAGTCCAGCTGTGGTCATACATGGGCAAC
1114167418	413952	NM_000089.3(COL1A2):c.856G>A (p.Gly286Ser)	COL1A2	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	7	94409385	GCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGAC
397514565	48303	NM_006218.3(PIK3CA):c.1133G>A (p.Cys378Tyr)	PIK3CA	Dec 08, 2014	MedGen:C1865285,OMIM:602501;MedGen:CN233161	Megalencephaly cutis marmorata telangiectatica congenita;PIK3CA related overgrowth spectrum	somatic	3	179204576	GTGACAATGTGAACACTCAAAGAGTACCTTGTTCCAATCCCAGGTAAGGAAGTATATAGAT
80338864	21831	NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys)	DHCR7	Jun 30, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline;unknown	11	71435461	ATCCTGCTGACCCACCGCTGCCTCCGGGACGAGCACCGCTGCGCCAGCAAGTACGGCCGGG
121917768	27297	NM_003361.3(UMOD):c.230G>A (p.Cys77Tyr)	UMOD	Mar 01, 2003	MedGen:C0268113,OMIM:162000,Orphanet:ORPHA209886,SNOMED CT:46785007	Familial juvenile gout	germline	16	20349071	ATGAGTGCGCCATTCCTGGAGCTCACAACTGCTCCGCCAACAGCAGCTGCGTAAACACGCC
121908638	21365	NM_000050.4(ASS1):c.539G>A (p.Ser180Asn)	ASS1	Mar 10, 2017	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187;MedGen:CN517202	Citrullinemia type I;not provided	germline	9	130470877	CCATCCCGGTCACTCCCAAGAACCCGTGGAGCATGGATGAGAACCTCATGCACATCAGGTA
72653772	260087	NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln)	ABCC6	May 23, 2017	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16190246	GAGCCTTTCTGGACAGAGTCCTGGGCATCCGAGGCCAGGAGCTGGGCGCCTTGCGGACCTC
121918287	17781	NM_004183.3(BEST1):c.949G>A (p.Val317Met)	BEST1	Jan 01, 2008	MedGen:C3888198,OMIM:611809,Orphanet:ORPHA139455	Bestrophinopathy, autosomal recessive	germline	11	61959892	TGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACC
776407305	440192	NM_001080463.1(DYNC2H1):c.9353+1G>A	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:CN674505	Jeune thoracic dystrophy;Short-rib polydactyly syndrome type III	maternal;unknown	11	103223087	TTTGGAAACTGAACAGGCAGGATTAGAATCGTAAGTGAAATATAAAATATAAACAATTCTA
137852854	17716	NM_182760.3(SUMF1):c.653G>A (p.Cys218Tyr)	SUMF1	May 16, 2003	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003	Multiple sulfatase deficiency	germline	3	4418082	ATGTGTCCTGGAATGATGCGGTTGCCTACTGCACTTGGGCAGGGAAGCGGCTGCCCACGGA
727504276	175147	NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter)	MYBPC3	Mar 04, 2013	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	11	47332969	TGCCTCCCCTCCCTCCCTGCCCCCAGGAGTGGTTCACCGTCTTGGAGCATTACCGCCGCAC
1060499941	390709	NM_198056.2(SCN5A):c.6048G>A (p.Val2016=)	SCN5A	-	MedGen:CN221565	Arrhythmogenic right ventricular dysplasia/cardiomyopathy	germline	3	38550324	TTCTCCGGACAGGGACCGTGAGTCCATCGTGTGAGCCTCGGCCTGGCTGGCCAGGACACAC
121918706	27605	NM_001252634.1(THRB):c.728G>A (p.Arg243Gln)	THRB	Jan 03, 2012	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24143511	ACGCCCAAGGCAGCCACTGGAAGCAAAAACGGAAATTCCTGGTAAGGCTTCCTTGCACAGA
797044448	29410	NM_000302.3(PLOD1):c.579+1G>A	PLOD1	Jan 04, 2013	MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED CT:25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient	germline	1	11952736	ACCAAGATCTTCTTGGACCCGGAGAAGAGGGTAAGAGGCAGTGGGCGGGCCAAGGAGAGGG
772842361	481604	NM_012233.2(RAB3GAP1):c.2103G>A (p.Trp701Ter)	RAB3GAP1	Jan 19, 2018	MedGen:CN517202	not provided	germline	2	135153690	AGGTTGCTCCCTGGAAGATTTTGTGAGGTGGTATTCACCCCGGGATTATATTGAAGAGGAG
121912491	29573	NM_002292.3(LAMB2):c.737G>A (p.Arg246Gln)	LAMB2	Sep 01, 2006	MedGen:C3280113,OMIM:614199,Orphanet:ORPHA306507	Nephrotic syndrome, type 5, with or without ocular abnormalities	germline	3	49131128	CCTCAGACCTGTTGAAGATCACCAACCTACGGGTGAACCTGACTCGTCTACACACGTTGGG
587776684	23150	NM_006982.2(ALX1):c.531+1G>A	ALX1	May 14, 2010	MedGen:C3150706,OMIM:613456,Orphanet:ORPHA306542	Frontonasal dysplasia 3	germline	12	85283877	AGGACAGAGCTCACTGAGGCCAGGGTCCAGGTAGGAGCCAAAAAGAGGCCTTGATGGATGG
61282106	29532	NM_170707.3(LMNA):c.1394G>A (p.Gly465Asp)	LMNA	Jan 22, 2016	MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:CN517202	Familial partial lipodystrophy 2;not provided	germline	1	156136934	CCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGA
755562733	200675	NM_138413.3(HOGA1):c.733G>A (p.Val245Ile)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97601889	GCTGTGGGGGGCGTCTGCGCCCTGGCCAATGTCCTGGGGGCTCAGGTGTGCCAGCTGGAGC
121909657	31308	NM_182925.4(FLT4):c.2563G>A (p.Ala855Thr)	FLT4	Jun 01, 2009	MedGen:C1704423,OMIM:153100,Orphanet:ORPHA79452,SNOMED CT:399889006	Hereditary lymphedema type I	germline	5	180619749	GCCCCGACAGGGAGAGTGCTCGGCTACGGCGCCTTCGGGAAGGTGGTGGAAGCCTCCGCTT
879254901	434295	NM_000527.4(LDLR):c.1438G>A (p.Ala480Thr)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113614	AGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACT
727503252	175611	NM_000257.3(MYH7):c.2782G>A (p.Asp928Asn)	MYH7	Apr 07, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23424047	AAGGTGAAGGAGATGAACGAGAGGCTGGAGGATGAGGAGGAGATGAATGCTGAGCTCACTG
886041307	264879	NM_144773.3(PROKR2):c.458+1G>A	PROKR2	Nov 09, 2015	MedGen:CN517202	not provided	germline	20	5313911	CAATGCCTTGCTGGCCATTGCCATTGACAGGTGAGGATGGTGGGTGGGGTGAGTGGTGGGG
397517353	55204	NM_022124.5(CDH23):c.7776G>A (p.Trp2592Ter)	CDH23	Jan 03, 2012	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71803324	GGCCACAGATGGTGGAGAGCCCCCACTCTGGGGCACCACCATGCTCCTGGTGGAGGTCATC
886041262	264902	NM_172107.3(KCNQ2):c.629G>A (p.Arg210His)	KCNQ2	Jun 06, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	germline	20	63444720	TGCGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCT
1085307215	414151	NM_001204.6(BMPR2):c.350G>A (p.Cys117Tyr)	BMPR2	Aug 15, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN169374	Primary pulmonary hypertension;not specified	germline	2	202467621	CAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTT
387906926	39494	NM_019109.4(ALG1):c.434G>A (p.Gly145Asp)	ALG1	Nov 01, 2010	MedGen:C2931005,OMIM:608540,Orphanet:ORPHA79327	Congenital disorder of glycosylation type 1K	germline	16	5075431	TGCCTAGCATTGCTGTCTGCTGGTTCGTGGGCTGCCTTTGTGGAAGCAAGCTCGTCATTGA
266257355	28275	NM_000119.2(EPB42):c.922+1G>A	EPB42	Jul 01, 1995	MedGen:C2675192,OMIM:612690	Spherocytosis type 5	germline	15	43209273	CCTGGGTGTTGGCTGCTGTTGCTTGCACAGGTTGGTCCCCTTGTCTCCTGTAGAGTGCCCT
587780538	136458	NM_000179.2(MSH6):c.1367G>A (p.Trp456Ter)	MSH6	Mar 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	2	47799350	AACTGGGGCTGGTATTCATGAAAGGCAACTGGGCCCATTCTGGCTTTCCTGAAATTGCATT
72555392	15984	NM_000404.3(GLB1):c.176G>A (p.Arg59His)	GLB1	Sep 29, 2016	MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002;MedGen:C1968747;MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004;MedGen:CN517202	GM1 gangliosidosis type 2;GM1-gangliosidosis, type I, with cardiac involvement;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;not provided	germline;somatic	3	33072613	GCTACATCTCAGGAAGCATTCACTACTCCCGTGTGCCCCGCTTCTACTGGAAGGACCGGCT
121908151	231479	NM_004895.4(NLRP3):c.1711G>A (p.Gly571Arg)	NLRP3	Jul 09, 2013	MedGen:CN517202	not provided	germline	1	247425154	CTTCTGGAAAACTATGGCAAATTCGAAAAGGGGTATTTGATTTTTGTTGTACGTTTCCTCT
587779441	107106	NM_000090.3(COL3A1):c.656G>A (p.Gly219Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188989415	CTTATTTTCAGGGCCCTCCAGGACCTCCTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAA
121434288	18577	NM_130849.3(SLC39A4):c.1576G>A (p.Gly526Arg)	SLC39A4	Jul 01, 2002	MedGen:C0221036,OMIM:201100,Orphanet:ORPHA37,SNOMED CT:37702000	Hereditary acrodermatitis enteropathica	germline	8	144413288	GGCGCCGCCTTCGCGTCCTCCTGGAAGACCGGGCTGGCCACCTCGCTGGCCGTGTTCTGCC
267606882	24706	m.6264G>A	MT-CO1	Nov 01, 1998	MedGen:CN029768	Familial colorectal cancer	germline	MT	6264	CTCCTGCTCGCATCTGCTATAGTGGAGGCCGGAGCAGGAACAGGTTGAACAGTCTACCCTC
104895504	16623	NM_001127255.1(NLRP7):c.352+1G>A	NLRP7	Mar 01, 2006	MedGen:C2931618,OMIM:231090,Orphanet:ORPHA254685	Hydatidiform mole	germline	19	54940930	CAGAAGAAGACTCGGAGTTAGCAAAGCCAGGTGGGTAAATACGGTCCTATGGTCATGAGTT
398123834	100330	NM_004019.2(DMD):c.1020G>A (p.Thr340=)	DMD	Sep 26, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31178668	GACTGTCTTAGAGGGGGACAACATGGAAACGTGAGTAGTAGCAAAAGCAGAACACACTCTT
1064793998	407147	NM_000162.3(GCK):c.184G>A (p.Val62Met)	GCK	Apr 20, 2017	MedGen:CN517202	not provided	germline	7	44153325	GAGGCCAGTGTGAAGATGCTGCCCACCTACGTGCGCTCCACCCCAGAAGGCTCAGGTACCA
886039385	259855	NM_000238.3(KCNH2):c.2145+1G>A	KCNH2	Aug 04, 2016	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	7	150950920	TCCTACACCAACGGCATCGACATGAACGCGGTGAGGCCACCAGAGCGTGGCCAGTGGGTGG
-1	431554	NM_001110354.1(ZP3):c.400G>A (p.Ala134Thr)	ZP3	Oct 09, 2017	MedGen:C1328577;MedGen:CN523306,OMIM:617712	Empty follicle syndrome;OOCYTE MATURATION DEFECT 3	de novo;germline;paternal	7	76429602	GGAAACCTGTCCATCGTGAGGACTAACCGCGCAGAGATTCCCATCGAGTGCCGCTACCCCA
137852466	25359	NM_000132.3(F8):c.6545G>A (p.Arg2182His)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154863112	CAACTCATTATAGCATTCGCAGCACTCTTCGCATGGAGTTGATGGGCTGTGATTTAAATAG
120074140	17871	NM_000019.3(ACAT1):c.1138G>A (p.Ala380Thr)	ACAT1	Aug 30, 1991	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007	Deficiency of acetyl-CoA acetyltransferase	germline	11	108146334	GATCCCCAAAAAGTGAATATCAATGGAGGAGCTGTTTCTCTGGGACATCCAATTGGGTAGG
376610215	48037	NM_198506.4(LRIT3):c.983G>A (p.Cys328Tyr)	LRIT3	Jan 10, 2013	MedGen:C3554399,OMIM:615058	Congenital stationary night blindness, type 1F	germline	4	109869732	TTTCTTCCAAAGACGCTGGGGATTACAAATGTAAGGCCAAAAATCTGGCTGGGATGTCAGA
137852651	24223	NM_000095.2(COMP):c.1403G>A (p.Cys468Tyr)	COMP	Jul 01, 1995	MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	germline	19	18786051	ACTCAGACCACGATGGCCAGGGTGATGCCTGCGACGACGACGACGACAATGACGGAGTCCC
137852826	15559	NM_001999.3(FBN2):c.1171G>A (p.Glu391Lys)	FBN2	Jun 13, 2012	MedGen:C0220668,OMIM:121050,Orphanet:ORPHA115,SNOMED CT:205821003	Congenital contractural arachnodactyly	germline	5	128395182	GGGAGAATGACGAAAATGCAGTGCTGCTGTGAGCCTGGCCGCTGCTGGGGCATCGGAACCA
121917852	23905	NM_002181.3(IHH):c.283G>A (p.Glu95Lys)	IHH	Apr 30, 2009	Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388	Type A1 brachydactyly	germline	2	219060185	TACAATCCAGACATCATCTTCAAGGACGAGGAGAACACAGGCGCCGACCGCCTCATGACCC
121909544	33121	NM_001145.4(ANG):c.409G>A (p.Val137Ile)	ANG	Feb 01, 2008	MedGen:C2678468,OMIM:611895	Amyotrophic lateral sclerosis type 9	germline	14	20693973	GTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTC
587784177	168250	NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1	Mar 04, 2016	Human Phenotype Ontology:HP:0002194,MedGen:C1837658;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0009890,MedGen:C3276036;Human Phenotype Ontology:HP:0000348,MedGen:C0239676;Human Phenotype Ontology:HP:0000316,MedGen:C0020534,OMIM:145400;Human Phenotype Ontology:HP:0002079,MedGen:C0344482;Human Phenotype Ontology:HP:0004324,MedGen:C0043094;Human Phenotype Ontology:HP:0000256,MedGen:C2243051,OMIM:248000;Human Phenotype Ontology:HP:0000938,MedGen:C0747078;Human Phenotype Ontology:HP:0001548,MedGen:C1849265;Human Phenotype Ontology:HP:0000307,MedGen:C1844505;Gene:5177,Human Phenotype Ontology:HP:0100602,MedGen:C0032914,OMIM:189800,Orphanet:ORPHA275555;Human Phenotype Ontology:HP:0002650,MedGen:C0037932;MedGen:CN035106,OMIM:117550;Human Phenotype Ontology:HP:0000098,MedGen:C0241240;MedGen:CN517202	Delayed gross motor development;Delayed speech and language development;Delayed speech and language development;Global developmental delay;High anterior hairline;High forehead;Hypertelorism;Hypoplasia of the corpus callosum;Increased body weight;Macrocephaly;Osteopenia;Overgrowth;Pointed chin;Preeclampsia/eclampsia 1;Scoliosis;Sotos syndrome 1;Tall stature;not provided	germline;unknown	5	177283827	TTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTG
-1	471847	NM_000475.4(NR0B1):c.516G>A (p.Trp172Ter)	NR0B1	May 16, 2017	MedGen:C1848296,OMIM:300018;MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	46,XY sex reversal, type 2;Congenital adrenal hypoplasia, X-linked	germline	X	30308848	GCCCGAGGCACGGCCAGGGGGCGCGTGGTGGGACCGCTCCTACTTCGCGCAGAGGCCAGGG
137854471	31468	NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr)	FBN1	Jan 01, 1994	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48483931	TGGTTTTATTCTTTGCAGACATCGATGAGTGTGAAGATAATCCCAATATCTGTGATGGTGG
122458145	26592	NM_001159702.2(FHL1):c.458G>A (p.Cys153Tyr)	FHL1	Mar 01, 2008	MedGen:C2678015,OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	germline	X	136207918	CTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGT
1057518962	361095	NM_004006.2(DMD):c.1637G>A (p.Trp546Ter)	DMD	Jun 11, 2014	Human Phenotype Ontology:HP:0008981,MedGen:C1843057;Human Phenotype Ontology:HP:0003457,MedGen:C0476403;Human Phenotype Ontology:HP:0003458,MedGen:C4021726;Human Phenotype Ontology:HP:0001270,MedGen:C1854301;Human Phenotype Ontology:HP:0003394,MedGen:C0026821;Human Phenotype Ontology:HP:0001324,MedGen:C0151786	Calf muscle hypertrophy;EMG abnormality;EMG: myopathic abnormalities;Motor delay;Muscle cramps;Muscle weakness	unknown	X	32573812	TGGGAGATCGATGGGCAAACATCTGTAGATGGACAGAAGACCGCTGGGTTCTTTTACAAGA
148211042	214833	NM_005689.3(ABCB6):c.2168G>A (p.Arg723Gln)	ABCB6	Dec 01, 2014	Gene:541461,MedGen:C1836705,OMIM:609153,Orphanet:ORPHA90044	Pseudohyperkalemia, familial, 2, due to red cell leak	germline	2	219210799	CCACAGGGTACAGGACACAGGTGGGCGAGCGGGGACTGAAGCTGAGCGGCGGGGAGAAGCA
387906831	39202	NM_005216.4(DDOST):c.650G>A (p.Gly217Asp)	DDOST	May 14, 2014	MedGen:C3281084,OMIM:614507,Orphanet:ORPHA300536	Congenital order of glycosylation type 1r	germline	1	20654660	ATAACCCTTTGGTGCTGGACATCCTGACGGGCTCTTCCACCTCTTACTCCTTCTTCCCGGA
28937294	25149	NM_000132.3(F8):c.5879G>A (p.Arg1960Gln)	F8	May 01, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904025	GCTTAGTAATGGCTCAGGATCAAAGGATTCGATGGTATCTGCTCAGCATGGGCAGCAATGA
104886267	36042	NM_000495.4(COL4A5):c.4069G>A (p.Gly1357Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108680956	GAGGGGGAACCGGGACTTATTGGTCCTCCAGGTAAGACTTATTCCTGAAGATAGTTATACC
267607189	25903	NM_001111125.2(IQSEC2):c.2273G>A (p.Arg758Gln)	IQSEC2	Jun 01, 2010	Gene:170530,MedGen:C2931498,OMIM:300551,OMIM:309530	Mental retardation, X-linked 1	germline	X	53250303	ACAATGATGTGGTCCAGAGGCGGCACTACCGAATCGGCCTCAACCTCTTCAACAAGTGCGT
769369302	389127	NM_006295.2(VARS):c.3173G>A (p.Arg1058Gln)	VARS	Dec 11, 2017	Human Phenotype Ontology:HP:0012443,MedGen:C4021085;MedGen:CN679649,OMIM:617802	Abnormality of brain morphology;NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	germline;inherited	6	31779723	CCCTGTACACTTGCCTGGACGTTGGCCTGCGGCTGCTCTCACCCTTCATGCCCTTCGTGAC
80358145	46229	NM_007294.3(BRCA1):c.5467+1G>A	BRCA1	Jun 30, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43047642	ATGCCTGGACAGAGGACAATGGCTTCCATGGTAAGGTGCCTGCATGTACCTGTGCTATATG
771820789	361012	NM_001042492.2(NF1):c.2709G>A (p.Val903=)	NF1	Feb 03, 2018	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline;unknown	17	31229324	ATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATA
137853223	31022	NM_000515.4(GH1):c.626G>A (p.Arg209His)	GH1	Nov 01, 2007	MedGen:C0271567,OMIM:173100,Orphanet:ORPHA231679,SNOMED CT:237687003	Autosomal dominant isolated somatotropin deficiency	germline	17	63917337	TCGAGACATTCCTGCGCATCGTGCAGTGCCGCTCTGTGGAGGGCAGCTGTGGCTTCTAGCT
137852917	18138	NM_005670.3(EPM2A):c.835G>A (p.Gly279Ser)	EPM2A	Oct 01, 2005	MedGen:C0751783,OMIM:254780,Orphanet:ORPHA501,SNOMED CT:230425004	Lafora disease	germline	6	145627577	GGGGTGGGCCGCTCCACCGCGGCTGTCTGCGGCTGGCTCCAGTATGTGATGGGCTGGAATC
121908629	21069	NM_001128227.2(GNE):c.830G>A (p.Arg277Gln)	GNE	Dec 29, 2015	MedGen:C1833373,OMIM:600737;MedGen:C1853926,OMIM:605820	Inclusion body myopathy 2;Nonaka myopathy	germline;unknown	9	36236864	CATTGGATGCACTTATCTCATTTAACAAGCGGACCCTAGTCCTGTTTCCAAATATTGACGC
387907022	39776	NM_018006.4(TRMU):c.835G>A (p.Val279Met)	TRMU	Oct 31, 2016	MedGen:C2751567,OMIM:613070;MedGen:CN517202	Liver failure acute infantile;not provided	germline	22	46353829	AACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACG
121913676	28928	NM_001127500.2(MET):c.3804G>A (p.Met1268Ile)	MET	Dec 26, 2014	MedGen:C0279606;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006	Childhood hepatocellular carcinoma;Neoplasm	somatic	7	116783421	AACAGGTGCAAAGCTGCCAGTGAAGTGGATGGCTTTGGAAAGTCTGCAAACTCAAAAGTTT
63750622	260084	NM_001171.5(ABCC6):c.4016G>A (p.Arg1339His)	ABCC6	Mar 04, 2016	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16154898	CCATTGCCCACGTGGGGCTGCACACACTGCGCTCCAGGATCAGCATCATCCCCCAGGTGAG
397515982	51820	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3	Aug 31, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47335944	CGTCTCTGACACCACGGTCTCCCTCAAGTGGCGGCCCCCAGAGCGCGTGGGAGCAGGAGGC
587779435	107166	NM_000090.3(COL3A1):c.1915G>A (p.Gly639Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997745	AAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATG
72653745	426861	NM_001171.5(ABCC6):c.3668G>A (p.Trp1223Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16159549	CCCAGACACTGCAGTGGGTTGTTCGCAACTGGACAGACCTAGAGAACAGCATCGTGTCAGT
1057516825	357645	NM_019098.4(CNGB3):c.1480+1G>A	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline;unknown	8	86628918	AATATACATGGGACTCTCAAAGAATGCTAGGTAAGCATGGCAGATTACCGATTAAATTCCT
587776734	25581	NM_171998.3(RAB39B):c.215+1G>A	RAB39B	Feb 12, 2010	MedGen:C1846038,OMIM:300271	Mental retardation, X-linked 72	germline	X	155264073	CTGGGATACCGCGGGTCAAGAGAGGTTCAGGTGGGAGCGCAGTCCGGGCCCGCAAGCAGTG
121908931	21652	NM_004086.2(COCH):c.355G>A (p.Ala119Thr)	COCH	Oct 01, 2003	MedGen:C1832425,OMIM:601369	Deafness, autosomal dominant 9	germline	14	30878926	ATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTAGTAGGTATAATT
878853275	237802	NM_001183.5(ATP6AP1):c.1284G>A (p.Met428Ile)	ATP6AP1	Feb 13, 2017	MedGen:C3151226,OMIM:613860,Orphanet:ORPHA331190	Immunodeficiency due to ficolin 3 deficiency	germline	X	154435762	TGCCAGCTTCTTCTCCCCCGGCATCTGGATGGGGCTGCTCACCTCCCTGTTCATGCTCTTC
786202081	184491	NM_144997.6(FLCN):c.250-1G>A	FLCN	Apr 28, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas;not provided	germline	17	17226323	TAACAGATTTACTTTTCCTTTTCATGGACAGGGCTGCCGGTCACTTGCTGCAGGGCACCCG
121909764	21820	NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg)	DHCR7	Aug 01, 1998	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline	11	71438980	GACTTCAAGCTGTTCTTCAATGGGCGCCCCGGGATCGTCGCCTGGACCCTCATCAACCTGT
80338784	20950	NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)	SCN4A	Apr 28, 2009	MedGen:CN074266,OMIM:170500;MedGen:C3714580,OMIM:170400;MedGen:C2750061,OMIM:613345	Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis 1;Hypokalemic periodic paralysis, type 2	germline	17	63959278	TGGCCAACGTACAGGGACTGTCTGTGCTACGCTCCTTCCGTCTGGTACACAAAAGCCCCAG
765034336	367602	NM_000094.3(COL7A1):c.6751G>A (p.Gly2251Arg)	COL7A1	Jan 10, 2017	MedGen:CN517202	not provided	germline	3	48572942	GGCAGCCCTGACAGAGCTCTTCCCTCTCAGGGGGAGACAGGGAAGCCGGGAGCCCCAGGTC
281875199	79654	NM_003070.4(SMARCA2):c.2554G>A (p.Glu852Lys)	SMARCA2	May 24, 2017	MedGen:CN517202	not provided	germline	9	2086856	TAGATTCGGTGGAAATACATGATAGTGGACGAAGGCCACCGAATGAAGAATCACCACTGCA
779007169	189161	NM_014714.3(IFT140):c.3827G>A (p.Gly1276Glu)	IFT140	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	germline	16	1520177	TGAAGAACATCATCGGCTTCTACACCAAGGGGCGGGCCCTGGACCTCCTGGCTGGCTTTTA
-1	470684	NM_004006.2(DMD):c.9649+1G>A	DMD	May 30, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31206581	GTAAAGCACATTTGGAAGACAAGTACAGATGTAAGTCGTGTATATTAATGCTGTATTCTTT
886041188	264181	NM_000094.3(COL7A1):c.5027G>A (p.Gly1676Glu)	COL7A1	Jul 18, 2017	MedGen:CN517202	not provided	germline	3	48580606	GGGGGCCTGTGGGTGAAAAGGGAGACCAGGGAGATCCTGGAGAGGATGGACGAAATGTGAG
555164150	420016	NM_004928.2(C21orf2):c.331G>A (p.Val111Met)	C21orf2	Jul 12, 2017	MedGen:C1865695,OMIM:602271,Orphanet:ORPHA168549	Spondylometaphyseal dysplasia axial	germline	21	44333075	GGCACCAGCCCCCACCGCTACCGCATGACCGTGCTGCGCACCCTGCCGCGCCTACAGAAGC
34704828	380595	NM_000518.4(HBB):c.-29G>A	HBB	May 14, 2015	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000	beta Thalassemia	germline	11	5227050	CTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCAT
786204828	187200	NM_001098.2(ACO2):c.776G>A (p.Gly259Asp)	ACO2	Dec 01, 2014	MedGen:C3281192,OMIM:614559,Orphanet:ORPHA313850	Infantile cerebellar-retinal degeneration	germline	22	41515858	TGAAGGTGGCAGGCATCCTCACGGTGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGG
121912948	32164	NM_080680.2(COL11A2):c.2423G>A (p.Gly808Glu)	COL11A2	Dec 01, 1999	MedGen:C1866095,OMIM:601868	Deafness, autosomal dominant 13	germline	6	33174534	CTGGTCTGCCTGGCTATCCTGGACGTCAGGGACCCAAGGTGATGCCATGCCCCATACGTGC
672601330	33151	NM_000666.2(ACY1):c.360-1G>A	ACY1	Mar 01, 2006	MedGen:C1835922,OMIM:609924,Orphanet:ORPHA137754	Aminoacylase 1 deficiency	germline	3	51986254	CTCCCCCAGCACCTGGCTTATGCCCCCTCAGGTACCTGGAAGCTGTGAGGAGGCTGAAGGT
777105668	214431	NM_004366.5(CLCN2):c.1507G>A (p.Gly503Arg)	CLCN2	Sep 09, 2015	MedGen:C3810242,OMIM:615651,Orphanet:ORPHA363540	Leukoencephalopathy with ataxia	germline	3	184354548	CGGATTGTGCCTGGGGGCTACGCTGTGGTCGGTGAGTGCCTCAGGTCCCATCGGCCTTGGG
193919339	19013	NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter)	ALMS1	May 01, 2002	MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED CT:63702009	Alstrom syndrome	germline	2	73572866	TAGCAGAGGGGAACGAAGTGTGAAGGAATGGAGTGGTAGACAACAGCAGAGAAATAAGCTT
387906911	39440	NM_005689.3(ABCB6):c.169G>A (p.Ala57Thr)	ABCB6	Jan 13, 2012	MedGen:C3281027,OMIM:614497	Microphthalmia, isolated, with coloboma 7	germline	2	219218505	GCTCTTCCCTGCAGACGCCGGGAGCGGCCCGCTGGTGCTGATTCGCTGTCTTGGGGGGCCG
727502870	172318	NM_004130.3(GYG1):c.749G>A (p.Trp250Ter)	GYG1	Dec 01, 2014	MedGen:C4015452,OMIM:616199,Orphanet:ORPHA456369	Polyglucosan body myopathy 2	germline	3	149024193	TGACTCATCCAGAGTTTCTCATCCTGTGGTGGAACATCTTTACCACCAACGTTTTACCTCT
587779447	106881	NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004275	TATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTC
67693970	413995	NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser)	COL1A1	Jan 13, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta type I;Osteogenesis imperfecta with normal sclerae, dominant form	germline;paternal;unknown	17	50190099	CCGCCCTGCTTCCTCCCCCAGGGTGCTGACGGCCAACCTGGTGCTAAAGGCGAACCTGGTG
78846775	19223	NM_033629.4(TREX1):c.598G>A (p.Asp200Asn)	TREX1	Mar 13, 2014	MedGen:C0796126,OMIM:225750;MedGen:C3150315	Aicardi Goutieres syndrome 1;Aicardi Goutieres syndrome 1, autosomal dominant	germline	3	48467253	TCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTCAGCATCTGTCAGT
758252808	216927	NM_006895.2(HNMT):c.179G>A (p.Gly60Asp)	HNMT	Oct 15, 2015	MedGen:C4225220,OMIM:616739	Mental retardation, autosomal recessive 51	germline	2	137970206	CAAAATCAGAAATTAAGATTCTAAGCATAGGCGGAGGTGCAGGTATGAGTAATATATTTTT
267608679	49667	NM_007055.3(POLR3A):c.2171G>A (p.Cys724Tyr)	POLR3A	Aug 02, 2012	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	not provided	10	78004792	ATGAGTTGCTGAATGCCGGCTACAAGAAATGTGATGAGTACATCGAAGCCCTGAACACGGG
387906755	39034	NM_001698.2(AUH):c.559G>A (p.Gly187Ser)	AUH	Jun 30, 2014	MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046,SNOMED CT:237950009;MedGen:CN517202	3-Methylglutaconic aciduria;not provided	germline	9	91298023	GCAGCAATAGATGGACTCGCTTTAGGTGGTGGTCTTGAACTGGCTTTAGCCTGTGATATAC
74315347	20407	NM_014625.3(NPHS2):c.538G>A (p.Val180Met)	NPHS2	Aug 16, 2016	MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656;MedGen:CN517202	Nephrotic syndrome, idiopathic, steroid-resistant;not provided	germline;unknown	1	179557227	CTGTCATCCAAACTTTTTTCTGCCTAGATCGTGACCAAAGACATGTTTATAATGGAGATAG
104886308	25506	NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln)	COL4A5	Mar 03, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108696350	AAGCAGGAGACTTGAGGACACGAATTAGCCGATGTCAAGTGTGCATGAAGAGGACATAACA
104893790	28084	NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	RHO	Feb 17, 1994	MedGen:C1864869,OMIM:610445	Congenital stationary night blindness, autosomal dominant 1	germline	3	129529002	CCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCA
111033206	52321	NM_000260.3(MYO7A):c.1556G>A (p.Gly519Asp)	MYO7A	May 19, 2016	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77162854	GGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAA
786205820	188661	NM_000891.2(KCNJ2):c.935G>A (p.Arg312His)	KCNJ2	Nov 08, 2016	MedGen:CN517202	not provided	germline	17	70175974	TGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTG
587779408	106596	NM_000543.4(SMPD1):c.739G>A (p.Gly247Ser)	SMPD1	Aug 10, 2014	MedGen:C1866282,OMIM:601780,Orphanet:ORPHA228363;MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006	Ceroid lipofuscinosis neuronal 6;Niemann-Pick disease, type A	inherited;unknown	11	6391804	CCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGA
786204030	185765	NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11791276	CCCTGAACTGCAGCCGAATGCTGTCACTTGGGGCATCTTCCCTGGGCGAGAGATCATCCAG
80356624	23705	NM_000525.3(KCNJ11):c.602G>A (p.Arg201His)	KCNJ11	May 03, 2013	MedGen:C1833102;Human Phenotype Ontology:HP:0000857,MedGen:C3278636;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885;MedGen:C1864623,OMIM:610582	Diabetes mellitus, permanent neonatal, with neurologic features;Neonatal insulin-dependent diabetes mellitus;Permanent neonatal diabetes mellitus;Transient neonatal diabetes mellitus 3	germline	11	17387490	TGCGCCACGGCCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGAGCATGATCAT
879254090	419609	NM_000038.5(APC):c.1548G>A (p.Lys516=)	APC	Nov 20, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112827247	AAACTTGACTTTTGGAGATGTAGCCAACAAGGTATGTTTTTATAACATGTATTTCTTAAGA
727504005	177825	NM_020166.4(MCCC1):c.640-1G>A	MCCC1	Apr 07, 2014	MedGen:CN028786,OMIM:210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	germline	3	183071121	GTTGTAGTCATAATCATCTTTTCTCTCTTAGGGAATGAGGATTGTTAGATCAGAACAAGAA
869312940	226907	NM_003130.3(SRI):c.206-1G>A	SRI	Apr 08, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	7	88210926	TAATATGTATGTACTTTTCTTGATTTAACAGCTTTTAACCTGGAGACTTGCCGGCTTATGG
104894569	27046	NM_000151.3(G6PC):c.551G>A (p.Gly184Glu)	G6PC	May 01, 1996	MedGen:C2919796,OMIM:232200	Glycogen storage disease type 1A	germline	17	42909407	CTGCTCATTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTC
121908679	21253	NM_001126105.2(SLC7A7):c.726G>A (p.Trp242Ter)	SLC7A7	Jan 01, 2008	MedGen:C0268647,OMIM:222700,Orphanet:ORPHA470,SNOMED CT:303852004	Lysinuric protein intolerance	germline	14	22778837	GTACTCAGCTCTGTTCTCCTACTCAGGCTGGGACACCCTCAACTATGTCACTGAAGAGATC
387906272	17097	NM_152443.2(RDH12):c.658+1G>A	RDH12	Oct 01, 2004	MedGen:C2675186,OMIM:612712	Leber congenital amaurosis 13	germline	14	67727191	TTACTCGTGAGCTGGCCAAGAGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAAT
121964962	15156	NM_000071.2(CBS):c.919G>A (p.Gly307Ser)	CBS	Jul 19, 2017	na;Human Phenotype Ontology:HP:0002156,MedGen:C0019880;MedGen:C3150344,OMIM:236200;MedGen:CN068393;MedGen:CN517202	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED;Homocystinuria;Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-nonresponsive;not provided	germline;unknown	21	43062988	GAGCAGACAACCTACGAGGTGGAAGGGATCGGCTACGACTTCATCCCCACGGTGCTGGACA
-1	428730	NM_000162.3(GCK):c.667G>A (p.Gly223Ser)	GCK	Aug 31, 2016	MedGen:C1841962,OMIM:125851;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44149772	TGCTACTACGAAGACCATCAGTGCGAGGTCGGCATGATCGTGGGTAAGGGCTCCTTGCACC
273585629	132431	NM_001127464.2(ZNF469):c.11101G>A (p.Gly3701Ser)	ZNF469	-	MedGen:C1835677,OMIM:148300	Keratoconus 1	germline	16	88438655	ATGAAGCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAGCCCTC
727502866	171814	NM_032122.4(DTNBP1):c.177G>A (p.Trp59Ter)	DTNBP1	Dec 11, 2014	MedGen:C2931875,OMIM:203300;MedGen:C3279756,OMIM:614076,Orphanet:ORPHA231531	Hermansky-Pudlak syndrome 1;Hermansky-Pudlak syndrome 7	germline	6	15637789	TTTGCTTTTTTTTAGGTATGAGGATACATGGGCTGCACTTCACAGAAGAGCCAAAGACTGT
886041766	264812	NM_020988.2(GNAO1):c.119G>A (p.Gly40Glu)	GNAO1	May 17, 2016	MedGen:CN517202	not provided	germline	16	56192574	AGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGT
796052094	200693	NM_004370.5(COL12A1):c.8357G>A (p.Gly2786Asp)	COL12A1	May 01, 2014	MedGen:C4225313,OMIM:616471	Bethlem myopathy 2	germline	6	75102655	CTGGTCCTCGTGGAGACATAGGTCCTCCAGGCCCCCAGGGTCCTCCAGGCCCTCAGGGACC
587783782	170053	NM_000252.2(MTM1):c.1354-1G>A	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150660370	TTTCATGCTTTGTTTGCTTGTTTTTGTTTAGTTCCCTACAGCTTTTGAATTCAATGAACAA
199736219	430189	NM_001083961.1(WDR62):c.3514+1G>A	WDR62	Feb 22, 2017	MedGen:C1858535,OMIM:604317	Primary autosomal recessive microcephaly 2	germline	19	36103208	AAGAGACCCTGGAGGCCTGGCGCCCACCACGTGAGTGCCCCAGTCCCAGACGGACAGTCCT
121434479	22721	NM_024407.4(NDUFS7):c.434G>A (p.Arg145His)	NDUFS7	Apr 01, 2007	MedGen:C1838951	Leigh syndrome due to mitochondrial complex I deficiency	germline	19	1391144	TCCAGGTCTACGACCAGATGCCGGAGCCGCGCTACGTGGTCTCCATGGGGAGGTGAGTGCA
587784276	169363	NM_000430.3(PAFAH1B1):c.657G>A (p.Trp219Ter)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2672743	TGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTT
876657400	190156	NM_003042.3(SLC6A1):c.889G>A (p.Gly297Arg)	SLC6A1	May 07, 2015	MedGen:C4085238,OMIM:616421	Myoclonic-atonic epilepsy	germline	3	11025812	GATGCGGCAACCCAGATCTTCTTCTCATACGGGCTGGGCCTGGGGTCCCTGATCGCTCTCG
111033215	52464	NM_000260.3(MYO7A):c.5648G>A (p.Arg1883Gln)	MYO7A	Jan 25, 2016	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:CN517202	Usher syndrome, type 1;not provided	germline	11	77206108	GCCCCTGCTGCCTTTTCAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGA
1060499566	390674	NM_000059.3(BRCA2):c.-39-1G>A	BRCA2	-	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32316421	TGTAAGTGCATTTTGGTCTTCTGTTTTGCAGACTTATTTACCAAGCATTGGAGGAATATCG
80338891	34226	NM_003227.3(TFR2):c.2374G>A (p.Gly792Arg)	TFR2	Nov 24, 2015	MedGen:C1858664,OMIM:604250,Orphanet:ORPHA225123;MedGen:CN517202	Hemochromatosis type 3;not provided	germline	7	100620889	ACGCTGCAAGGGGCAGCCAATGCGCTTAGCGGGGATGTCTGGAACATTGATAACAACTTCT
138350727	76663	NM_130837.2(OPA1):c.740G>A (p.Arg247His)	OPA1	Jul 20, 2010	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009	Dominant hereditary optic atrophy	not provided	3	193626153	AACAAATTCAAGAGCATGAAGAGGAAGCGCGCAGAGCCGCTGGCCAATATAGCACGAGCTA
-1	431919	NM_016628.4(WAC):c.1437+1G>A	WAC	Sep 22, 2016	MedGen:C4225239,OMIM:616708	Desanto-shinawi syndrome	de novo	10	28611923	AGTACTCCTCCTGTTTCATCACAGCCAAAGGTATGTCACCTTTGAGGGACATTCGGAAAAG
201016593	245339	NM_000527.4(LDLR):c.11G>A (p.Trp4Ter)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089559	GCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTT
397516074	51962	NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	MYBPC3	Sep 20, 2017	MedGen:CN230736;MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47348424	GACTGCTCCAACTTCAATCTCACTGTCCACGGTGAGGGGGCCCTGGTGTCTGTCCTGGGCT
74315459	18099	NM_000487.5(ARSA):c.931G>A (p.Gly311Ser)	ARSA	Aug 01, 1993	MedGen:C0751278,Orphanet:ORPHA309256	Metachromatic leukodystrophy, late infantile	germline	22	50626202	CGGTGTGGAAAGGGAACGACCTACGAGGGCGGTGTCCGAGAGCCTGCCTTGGCCTTCTGGC
121912291	47562	NM_001363.4(DKC1):c.965G>A (p.Arg322Gln)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154770808	GGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCATTGAGGTCAATCAGGA
886041661	264263	NM_203290.3(POLR1C):c.70-1G>A	POLR1C	May 05, 2016	MedGen:CN517202	not provided	germline	6	43517305	CTTCGTGGACAAATTCGTCCCTTTGCTCTAGGTCCATACTACTGACTTTCCCGGTAACTAT
794728334	197650	NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)	FBN1	Sep 07, 2016	MedGen:CN517202;MedGen:CN169374	not provided;not specified	germline	15	48437069	TATTTTTTTTCTCTTGCTTAAGATATGGACGAATGCAAAGAACCCGATGTCTGTAAACATG
876657698	229151	NM_000248.3(MITF):c.722G>A (p.Trp241Ter)	MITF	Jan 07, 2016	MedGen:C3266898,Orphanet:ORPHA3440,SNOMED CT:47434006	Waardenburg syndrome	germline	3	69959284	TCCTCCATTTTCATCGCAGAGACATGCGCTGGAACAAGGGAACCATCTTAAAAGCATCCGT
121908865	21477	NM_000369.2(TSHR):c.326G>A (p.Arg109Gln)	TSHR	Apr 01, 1997	MedGen:C3493776,OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1	germline	14	81087962	GTGTTCCTTGTAACTTATACAGAGAAATTCGGAATACCAGGAACTTAACTTACATAGACCC
-1	440094	NM_025132.3(WDR19):c.3716+1G>A	WDR19	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	4	39274959	ATACAAAAAGAAGATCGAGGGAATGGTCAGGTAGGCAGAGATGGCTATTTCTGCTATCTAA
863223410	210225	NM_000020.2(ACVRL1):c.269G>A (p.Cys90Tyr)	ACVRL1	Mar 11, 2015	MedGen:CN517202	not provided	germline	12	51913306	GCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTC
121908349	19959	NM_022124.5(CDH23):c.6604G>A (p.Asp2202Asn)	CDH23	Jan 01, 2001	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71793532	GTCATTGCCAATATCACGGCCATTGACCACGACCTCAACCCAAAGCTAGAGTACCACATTG
137854547	15424	NM_000308.3(CTSA):c.1369G>A (p.Gly457Ser)	CTSA	Dec 01, 1996	MedGen:CN068414	Galactosialidosis, early infantile	germline	20	45898065	AAGTACGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACATCGCCT
57830985	29533	NM_170707.3(LMNA):c.1745G>A (p.Arg582His)	LMNA	Jan 01, 2001	MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:CN517202	Familial partial lipodystrophy 2;not provided	germline	1	156138534	GCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGG
515726165	132004	NM_021625.4(TRPV4):c.2330G>A (p.Cys777Tyr)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Skeletal dysplasia	germline	12	109786716	GCTCGGACGGCACTCCTGACCGCAGGTGGTGCTTCAGGTGAGGCTGGGGCAGTGGGGCCAG
120074178	18156	NM_000218.2(KCNQ1):c.569G>A (p.Arg190Gln)	KCNQ1	Aug 08, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2570719	GCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCAT
137854612	24434	NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg)	SCN5A	Aug 23, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144;EFO:EFO_0005137,MedGen:C2748542;MedGen:C1837845,OMIM:608567;MedGen:CN517202	Brugada syndrome;Brugada syndrome 1;Cardiac conduction defect, nonspecific;Sick sinus syndrome 1, autosomal recessive;not provided	germline	3	38560170	GTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGTAAGTC
121912999	31886	NM_004415.3(DSP):c.8501G>A (p.Arg2834His)	DSP	Sep 15, 2006	MedGen:C1843896,OMIM:607450	Arrhythmogenic right ventricular cardiomyopathy, type 8	germline	6	7585763	GGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGG
104894347	20064	NM_020638.2(FGF23):c.527G>A (p.Arg176Gln)	FGF23	Jun 25, 2015	MedGen:C0342642,OMIM:193100,Orphanet:ORPHA89937,SNOMED CT:237889002;MedGen:CN517202	Autosomal dominant hypophosphatemic rickets;not provided	germline	12	4370572	TAATTCACTTCAACACCCCCATACCACGGCGGCACACCCGGAGCGCCGAGGACGACTCGGA
121964926	408803	NM_000131.4(F7):c.1091G>A (p.Arg364Gln)	F7	Mar 16, 2017	MedGen:CN517202	not provided	germline	13	113118698	CCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTC
387906871	39347	NM_003860.3(BANF1):c.34G>A (p.Ala12Thr)	BANF1	May 13, 2011	MedGen:C3151446,OMIM:614008,Orphanet:ORPHA280576	Nestor-Guillermo progeria syndrome	germline	11	66003284	ACAACCTCCCAAAAGCACCGAGACTTCGTGGCAGAGCCCATGGGGGAGAAGCCAGTGGGGA
61751403	105220	NM_000350.2(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4	Feb 23, 2017	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Retinal dystrophy;Stargardt disease 1;not provided	germline;unknown	1	94021339	TTCTCAATGTGGCCCACAACGCCATCTTACGGGCCAGCCTGCCTAAGGACAGGAGCCCCGA
121912850	32496	NM_000094.3(COL7A1):c.6227G>A (p.Gly2076Asp)	COL7A1	Nov 01, 1997	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568	Generalized dominant dystrophic epidermolysis bullosa	germline	3	48575116	CATTTTCTTGTTTCCTGCAGGGCAGAGATGGCCCTCCTGGACTCCCTGGAACCCCTGGGCC
113994161	21015	NM_003850.2(SUCLA2):c.534+1G>A	SUCLA2	May 26, 2009	MedGen:C2749864,OMIM:612073,Orphanet:ORPHA1933	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	germline	13	47988540	TTTGCAATAACAATGGAAAGGTCATTTCAAGTGAGTAATTGTAGACATGATACATACGGGA
1085307709	415363	NM_001845.5(COL4A1):c.3715G>A (p.Gly1239Arg)	COL4A1	Apr 11, 2017	MedGen:CN517202	not provided	germline	13	110170574	CATGCCACGGAGGGGCCCAAAGGAGACCGCGGACCTCAGGGCCAGCCTGGCCTGCCAGGTA
139617694	172183	NM_000527.4(LDLR):c.1359-1G>A	LDLR	Apr 12, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:C0020443	Familial hypercholesterolemia;Hypercholesterolaemia	germline	19	11113534	GCGCTGATGCCCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTC
121913588	29212	NM_000530.7(MPZ):c.409G>A (p.Gly137Ser)	MPZ	Oct 31, 2016	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009	Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I	germline	1	161306747	TGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCT
199476349	79045	NM_000487.5(ARSA):c.883G>A (p.Gly295Ser)	ARSA	Aug 09, 2016	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:CN517202	Metachromatic leukodystrophy;not provided	germline;unknown	22	50626250	AGACCTGAGACCATGCGTATGTCCCGAGGCGGCTGCTCCGGTCTCTTGCGGTGTGGAAAGG
752921215	265034	NM_000152.4(GAA):c.2237G>A (p.Trp746Ter)	GAA	Jun 08, 2016	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002;MedGen:CN517202	Glycogen storage disease, type II;not provided	germline	17	80117015	GCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCT
28942079	18734	NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11113382	AGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAA
281865168	105554	NM_003322.5(TULP1):c.1495+1G>A	TULP1	Sep 26, 2015	MedGen:C3151206,OMIM:613843;MedGen:C1838603,OMIM:600132;MedGen:CN517202	Leber congenital amaurosis 15;Retinitis pigmentosa 14;not provided	germline	6	35499980	AGAACTTCCAGATTGTCCACGCTGATGACCGTGAGTACCTGAGGGCCCAGGTCTGGCTCTT
-1	481268	NM_006416.4(SLC35A1):c.586G>A (p.Glu196Lys)	SLC35A1	Feb 01, 2018	MedGen:C1970344,OMIM:603585,Orphanet:ORPHA238459	Congenital disorder of glycosylation type 2F	germline	6	87508431	ATGTCTAATTTTCTTTCAGGAGTATATTTTGAAAAAGTTTTAAAGAGTTCAGATACTTCTC
786202083	392724	NM_000251.2(MSH2):c.350G>A (p.Trp117Ter)	MSH2	Mar 20, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary nonpolyposis colon cancer;not provided	germline	2	47408539	CTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCT
104886068	35658	NM_000495.4(COL4A5):c.716G>A (p.Gly239Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108578319	AGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAG
104894635	20146	NM_000199.3(SGSH):c.734G>A (p.Arg245His)	SGSH	Nov 02, 2017	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006;MedGen:C0026706,SNOMED CT:88393000;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome;not provided	germline	17	80213815	ACCTGGCCGCTCAGTACACCACCGTCGGCCGCATGGACCAAGGTGGGCTTGCAGAACCGGG
121909671	31264	NM_004960.3(FUS):c.1562G>A (p.Arg521His)	FUS	Feb 27, 2009	MedGen:C1842675,OMIM:608030	Amyotrophic lateral sclerosis type 6	germline	16	31191419	TTTTTTGCAGGGGTGAGCACAGACAGGATCGCAGGGAGAGGCCGTATTAATTAGCCTGGCT
759876319	246250	NM_000527.4(LDLR):c.1634G>A (p.Gly545Glu)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841	Familial hypercholesterolemia;Familial hypercholesterolemias	germline	19	11116141	ACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCT
1057516039	353905	NM_003482.3(KMT2D):c.14075+1G>A	KMT2D	Nov 24, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	de novo	12	49029400	ACCCCCTCACAATCAGACTGAGGATGTCAGGTAGGGGCGGGGCCAGAAATGGGGATGAGGA
530318579	186605	NM_014625.3(NPHS2):c.503G>A (p.Arg168His)	NPHS2	May 05, 2017	MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656;MedGen:CN517202	Nephrotic syndrome, idiopathic, steroid-resistant;not provided	germline;unknown	1	179559710	GCCTGGATACCTACCACAAGGTTGACCTTCGTCTCCAAACTCTGGAGATACCTTTTCATGA
397518465	94304	NM_000833.4(GRIN2A):c.1007+1G>A	GRIN2A	Jun 03, 2016	MedGen:C1832814,OMIM:245570	Epilepsy, focal, with speech disorder and with or without mental retardation	germline	16	9937958	GCCAGAGGTCCCGATGCACACCTTGCACCCGTAAGAAAGGGCTTGTTGTCTCCCAAAGTGG
1085307194	414125	NM_001204.6(BMPR2):c.248-1G>A	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467518	TCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAG
886039537	260273	NM_000533.4(PLP1):c.191+1G>A	PLP1	Jun 09, 2016	MedGen:CN517202	not provided	germline	X	103785769	CTACCAAGACTATGAGTATCTCATCAATGTGTAAGTACCTGCCCTCCCACACAGACCCATC
104895319	26973	NM_000431.3(MVK):c.928G>A (p.Val310Met)	MVK	Oct 14, 2016	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:C1959626,OMIM:610377,Orphanet:ORPHA29;MedGen:CN517202	Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria;not provided	germline	12	109595070	ATGAACCAGCACCATCTGAATGCCCTCGGCGTGGGCCACGCCTCTCTGGACCAGCTCTGCC
886037941	248797	NM_021912.4(GABRB3):c.913G>A (p.Ala305Thr)	GABRB3	Sep 20, 2016	MedGen:C4310712,OMIM:617113	Epileptic encephalopathy, early infantile, 43	germline	15	26561099	GAGACCTTGCCCAAAATCCCCTATGTCAAAGCCATTGACATGTACCTTATGGGCTGCTTCG
794728613	196480	NM_170707.3(LMNA):c.1401G>A (p.Trp467Ter)	LMNA	Dec 01, 2015	MedGen:CN517202	not provided	germline	1	156136941	TTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCC
796052036	200082	NM_003060.3(SLC22A5):c.42G>A (p.Trp14Ter)	SLC22A5	Oct 14, 2016	MedGen:CN517202	not provided	germline	5	132370014	CGACGAGGTGACCGCCTTCCTGGGCGAGTGGGGGCCCTTCCAGCGCCTCATCTTCTTCCTG
121912842	32487	NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp)	COL7A1	Jul 24, 1998	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568	Generalized dominant dystrophic epidermolysis bullosa	germline	3	48575502	TCGGCTTTCCTGGAGAACGCGGGCTGAAGGGCGACCGTGGAGACCCTGGCCCTCAGGGGCC
137853099	22687	NM_000449.3(RFX5):c.446G>A (p.Arg149Gln)	RFX5	Nov 01, 2002	MedGen:C1859538	Bare lymphocyte syndrome type 2, complementation group E	germline	1	151344444	TCAGAGAGATCTTCCCTGACATCAAAGCTCGAAGGCTTGGTGGCCGGGGCCAGTCCAAGTA
121918616	27965	NM_000702.3(ATP1A2):c.1643G>A (p.Arg548His)	ATP1A2	Oct 12, 2017	MedGen:C1865323;MedGen:CN517202	Migraine, familial basilar;not provided	germline	1	160130283	CCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGG
189360006	205057	NM_001165928.3(DAG1):c.220G>A (p.Val74Ile)	DAG1	Jan 20, 2015	MedGen:C3151184,OMIM:613818,Orphanet:ORPHA280333	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	germline	3	49510754	GTGGTTGGCATTCCTGATGGCACGGCTGTCGTCGGGCGCTCATTTCGAGTGACCATTCCAA
886041792	264831	NM_001271043.2(NFIX):c.690G>A (p.Trp230Ter)	NFIX	May 19, 2016	MedGen:CN517202	not provided	germline	19	13073465	CCAGGACTGTTTTGTGACTTCCGGGGTCTGGAATGTGACGGAGCTGGTGAGAGTATCACAG
398123228	98482	NM_000169.2(GLA):c.974G>A (p.Gly325Asp)	GLA	May 30, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline	X	101398395	ACGTAATTGCCATCAATCAGGACCCCTTGGGCAAGCAAGGGTACCAGCTTAGACAGGTAAA
187152753	485791	NM_005912.2(MC4R):c.757G>A (p.Val253Ile)	MC4R	Mar 04, 2014	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60371593	GGAGCGATTACCTTGACCATCCTGATTGGCGTCTTTGTTGTCTGCTGGGCCCCATTCTTCC
794728593	196470	NM_170707.3(LMNA):c.768G>A (p.Val256=)	LMNA	Oct 10, 2017	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	1	156134933	GGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACT
587779499	106941	NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188993397	GTTGGACCTGCAGGGTCTCCTGGTTCAAATGGTGCCCCTGGACAAAGAGGAGAACCTGGAC
119480069	20019	NM_022436.2(ABCG5):c.1166G>A (p.Arg389His)	ABCG5	Aug 01, 2001	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43824071	TGGTGAGAAATAAGCTGGCAGTGATTACGCGTCTCCTTCAGAATCTGATCATGGGTTTGTT
104894490	17562	NM_144599.4(NIPA1):c.316G>A (p.Gly106Arg)	NIPA1	Apr 27, 2017	MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006;MedGen:C1838192,OMIM:600363,Orphanet:ORPHA100988	Hereditary spastic paraplegia;Spastic paraplegia 6	germline;inherited	15	22812252	ACCCCCCTGGGCGCCCTTGGAGTACCGTTCGGGTGAGAGCCAAGATTGTGTTTGGTATTTA
267606699	15319	NM_001159772.1(CANT1):c.899G>A (p.Arg300His)	CANT1	Nov 01, 2009	MedGen:C4012146,OMIM:251450	Desbuquois dysplasia 1	germline	17	78993857	ACACGCTGCAGCGCTGGTTCTTCCTGCCGCGCCGCGCCAGCCAGGAGCGCTACAGCGAGAA
886041016	263156	NM_006087.3(TUBB4A):c.1061G>A (p.Cys354Tyr)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495438	GGATCCCCAACAACGTGAAGACGGCCGTGTGCGACATCCCGCCCCGCGGCCTGAAGATGGC
267607224	20730	NM_002334.3(LRP4):c.1345G>A (p.Asp449Asn)	LRP4	May 14, 2010	MedGen:C1859309,OMIM:212780,Orphanet:ORPHA3258	Syndactyly Cenani Lenz type	germline	11	46894784	GAGCCTGTGCTGCTGTTCGCCAATCGCATCGACATCCGGCAGGTGCTGCCACACCGCTCTG
-1	442157	NM_000435.2(NOTCH3):c.665G>A (p.Cys222Tyr)	NOTCH3	Apr 13, 2017	MedGen:CN517202	not provided	germline	19	15191974	GCAGGCAGAGTGGCGACCTCACTTACGACTGTGCCTGTCTTCCTGGTGAGTGAGCCCTACT
876657395	190072	NM_199334.3(THRA):c.1207G>A (p.Glu403Lys)	THRA	May 01, 2015	MedGen:C3280817,OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	germline	17	40089430	CCCACCGAACTCTTCCCCCCACTCTTCCTCGAGGTCTTTGAGGATCAGGAAGTCTAAAGCC
1057520688	369990	NM_003172.3(SURF1):c.681G>A (p.Trp227Ter)	SURF1	May 06, 2015	MedGen:CN517202	not provided	germline	9	133352516	CCCTGAGAACAATCCAGAAAGGAACCACTGGCATTATCGAGACCTGGAAGCTATGGCCAGA
150299874	376074	NM_024884.2(L2HGDH):c.256+1G>A	L2HGDH	May 12, 2015	MedGen:CN517202	not provided	germline	14	50302901	TTGGTGTTCTGGAAAAGGAGAAAGATTTAGGTATGTATATAATCAATGTTGTTCTTTGGGC
80356615	23724	NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp)	KCNJ11	Jul 05, 2011	MedGen:C1833102;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Diabetes mellitus, permanent neonatal, with neurologic features;Permanent neonatal diabetes mellitus	germline	11	17387934	ACGTGGCCCACAAGAACATCCGGGAGCAGGGCCGCTTCCTGCAGGACGTGTTCACCACGCT
515726177	136314	NM_000098.2(CPT2):c.452G>A (p.Arg151Gln)	CPT2	May 25, 2017	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005;MedGen:CN517202	Carnitine palmitoyltransferase II deficiency;not provided	germline	1	53210126	CAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCG
751995154	200340	NM_000018.3(ACADVL):c.1376G>A (p.Arg459Gln)	ACADVL	Jul 19, 2017	Human Phenotype Ontology:HP:0003198,MedGen:C0026848;Human Phenotype Ontology:HP:0003201,MedGen:C0035410;MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202	Myopathy;Rhabdomyolysis;Very long chain acyl-CoA dehydrogenase deficiency;not provided	germline;unknown	17	7224011	AGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCG
1057518208	359851	NM_003816.2(ADAM9):c.196-1G>A	ADAM9	Nov 03, 2016	MedGen:CN517202	not provided	germline	8	39011657	GTTTTATTCTTTTCCCCTTCTGTGCATTTAGGTATCTTATGTTATTCAGGCTGAAGGAAAA
796053496	203172	NM_000548.4(TSC2):c.3624G>A (p.Trp1208Ter)	TSC2	Jun 12, 2014	MedGen:CN517202	not provided	germline	16	2081608	TGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCT
116840758	46879	NM_000168.5(GLI3):c.2431+1G>A	GLI3	Sep 13, 2012	MedGen:C0265220,OMIM:146510,Orphanet:ORPHA672,SNOMED CT:56677004	Pallister-Hall syndrome	not provided	7	41967595	CCCCTGCGGTCTCTCCTCTCATAGGAAATGGTGAGTTCTACATCAGACCATGCATCTGCTC
104886107	35719	NM_000495.4(COL4A5):c.1199G>A (p.Gly400Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591091	CTGCAGTTATGGGTCCTCCTGGCCCTCCTGGATTTCCTGGAGAAAGGGGTCAGAAAGGTGA
180177207	186655	NM_000030.2(AGXT):c.346G>A (p.Gly116Arg)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240869350	GGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGG
-1	426488	NM_005120.2(MED12):c.473G>A (p.Trp158Ter)	MED12	Jun 06, 2017	MedGen:CN517202	not provided	germline	X	71120090	AATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGC
72648337	360259	NM_000088.3(COL1A1):c.1354-12G>A	COL1A1	Dec 15, 2016	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:CN517202	Osteogenesis imperfecta type I;not provided	germline;unknown	17	50194840	GCCCCTCACCACAGGCCGCCTCCTCCTCTCGGCCCTCTCCAGGGCCCTGTTGGTGTTCAAG
-1	434929	NM_000944.4(PPP3CA):c.844G>A (p.Glu282Lys)	PPP3CA	Jan 22, 2018	MedGen:CN547334,OMIM:617711	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	germline	4	101083202	AATAACTTGTTATCTATACTCCGAGCCCACGAAGCCCAAGATGCAGGGTGAGCAGTTTTGA
587783858	170014	NM_000252.2(MTM1):c.867+1G>A	MTM1	Mar 03, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150645872	AGACCCAGCGTAAATGCAGTGGCCAACAAGGTGAGTGGACTTAATGATGTGCTGGACACTT
794728040	196772	NM_000090.3(COL3A1):c.1024G>A (p.Gly342Arg)	COL3A1	May 15, 2017	MedGen:CN517202	not provided	germline	2	188992914	CAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAA
886044526	274909	NM_001849.3(COL6A2):c.1458+1G>A	COL6A2	Sep 13, 2016	Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myopathy	germline	21	46121124	CAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGTCAGTGTCAGTGCAGGAGGCCGGTGCCCTC
863225431	214763	NM_004208.3(AIFM1):c.1352G>A (p.Arg451Gln)	AIFM1	Aug 01, 2015	Gene:751798,MedGen:C1845095,OMIM:300614,Orphanet:ORPHA139583	Deafness, X-linked 5	germline	X	130133409	GCTTCTACGATATAAAGTTGGGAAGGAGGCGGGTAGAGCACCATGATCACGCTGTTGTGAG
1057521137	373669	NM_000520.5(HEXA):c.748G>A (p.Gly250Ser)	HEXA	Dec 08, 2016	MedGen:CN517202	not provided	germline	15	72350575	AAGGAGGTCATTGAATACGCACGGCTCCGGGGTATCCGTGTGCTTGCAGAGTTTGACACTC
121907987	18906	NM_006623.3(PHGDH):c.1468G>A (p.Val490Met)	PHGDH	Jul 23, 2017	MedGen:C1866174,OMIM:601815	Phosphoglycerate dehydrogenase deficiency	germline	1	119743906	CTATTTCCAGGCCTCCTGGCAGAGGCAGGCGTGCGGCTGCTGTCCTACCAGACTTCACTGG
1064794322	407537	NM_003165.3(STXBP1):c.889G>A (p.Ala297Thr)	STXBP1	Mar 01, 2017	MedGen:CN517202	not provided	germline	9	127668174	CTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCC
28940310	17146	NM_015335.4(MED13L):c.5615G>A (p.Arg1872His)	MED13L	Dec 09, 2003	MedGen:C1837341,OMIM:608808	Transposition of the great arteries, dextro-looped 1	germline	12	115975287	TTAGGTCACGGAGGAGTAAAGTATCTGCACGTAAAATTGGACTACAGAAGTTATGGGAGTG
-1	445176	NM_001376.4(DYNC1H1):c.10348G>A (p.Glu3450Lys)	DYNC1H1	Oct 25, 2017	MedGen:CN517202	not provided	germline	14	102033419	CTGGAAGCCAGCATCGCCCGCTACAAGGAGGAATACGCCGTCCTGATCTCAGAGGCCCAGG
762814879	197427	NM_000218.2(KCNQ1):c.477+1G>A	KCNQ1	Jan 05, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	11	2528019	GCCCTGGCCACGGGGACTCTCTTCTGGATGGTACGTAGCATCTGAGGGCATGGCTGGATGT
398122952	94249	NM_001942.3(DSG1):c.49-1G>A	DSG1	Oct 01, 2013	MedGen:C3809719,OMIM:615508,Orphanet:ORPHA369992	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	germline	18	31326580	ATAACTAGTGTGATTATCTTATTTTTTACAGGTGGTGGTAGAAGTTAACAGTGAATTCCGA
398124437	102148	NM_130799.2(MEN1):c.912+1G>A	MEN1	Apr 04, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	64807010	CGGCCAGACCCACTCACCCTCTACCACAAGGTGGGGGCATCTAAGGAGGGTGCAGAAGGGA
62517166	108407	NM_000277.2(PAH):c.441+1G>A	PAH	Jul 18, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102877461	TATGGAGCGGAACTGGATGCTGACCACCCTGTGAGTCCATGGCCCGTAGGATGAGATTTTT
113994087	33122	NM_004304.4(ALK):c.3824G>A (p.Arg1275Gln)	ALK	May 31, 2016	Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700;MedGen:C2751681,OMIM:613014	Neoplasm of brain;Neoplasm of the breast;Neuroblastoma;Neuroblastoma 3	somatic;unknown	2	29209798	TGGCCAAGATTGGAGACTTCGGGATGGCCCGAGACATCTACAGGTGAGTAAAGACTGCCTC
-1	480597	NM_015312.3(KIAA1109):c.5599G>A (p.Val1867Met)	KIAA1109	Jan 11, 2018	MedGen:CN737163,OMIM:617822	ALKURAYA-KUCINSKAS SYNDROME	germline	4	122249571	ACTCTTGAAGAGTTGGATGAATTTACTTTTGTGGATGAAACTGATCAGCAAGCTGTTCCAG
886041246	264306	NM_003165.3(STXBP1):c.1217G>A (p.Arg406His)	STXBP1	Sep 09, 2016	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 4;not provided	germline	9	127675910	ATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAA
201842633	48388	NM_001083614.1(EARS2):c.328G>A (p.Gly110Ser)	EARS2	Dec 09, 2017	MedGen:C3554079,OMIM:614924,Orphanet:ORPHA314051;MedGen:CN517202	Combined oxidative phosphorylation deficiency 12;not provided	germline	16	23544671	ATCCCGCCTGATGAGAGCCCCCGCCGGGGCGGTCCTGCTGGGCCCTACCAGCAATCTCAGC
879254560	245611	NM_000527.4(LDLR):c.518G>A (p.Cys173Tyr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105424	AGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCG
796053008	201498	NM_001165963.1(SCN1A):c.4285G>A (p.Ala1429Thr)	SCN1A	Jan 28, 2014	MedGen:CN517202	not provided	germline	2	165999776	AAAGTAAAACATGCATGTCCTTCTTAATAGGCCACATTCAAAGGATGGATGGATATAATGT
387907352	57810	NM_032415.5(CARD11):c.367G>A (p.Gly123Ser)	CARD11	May 01, 2013	MedGen:CN231446,OMIM:616452	B-cell expansion with NFKB and T-cell anergy	unknown	7	2944529	ACTGGGTGCCCCCTCTCCACAGTGGAGGAAGGCCACGAGGGCCTCACGCACTTCCTGATGA
143473912	48129	NM_000359.2(TGM1):c.944G>A (p.Arg315His)	TGM1	Aug 03, 2017	MedGen:C3536797,OMIM:242300;MedGen:CN517202	Autosomal recessive congenital ichthyosis 1;not provided	germline	14	24259744	TGGACCGGCGGGGGATGCCATATGGAGGCCGTGGAGACCCAGTCAATGTCTCCCGGGTCAT
1060502248	397280	NM_000093.4(COL5A1):c.2430+1G>A	COL5A1	Oct 03, 2016	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009	Ehlers-Danlos syndrome, classic type	germline	9	134780147	CGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCC
104886312	35751	NM_000495.4(COL4A5):c.1423+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591645	AAGGACTCCAAGGAGAACAAGGAGTGAAAGGTTTGATCTCCAAACATATTCATTCCTTCAT
80338737	22341	NM_001482.2(GATM):c.446G>A (p.Trp149Ter)	GATM	Aug 18, 2011	MedGen:C2675179,OMIM:612718,Orphanet:ORPHA35704	Arginine:glycine amidinotransferase deficiency	germline	15	45369364	TGACAGTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGA
587777030	75616	NM_024339.4(THOC6):c.136G>A (p.Gly46Arg)	THOC6	Apr 26, 2013	Gene:100529147,MedGen:C3150939,OMIM:613680,Orphanet:ORPHA363444	Beaulieu-Boycott-Innes syndrome	germline	16	3025804	GGGAAGTTTCTGGCGGCTGGCAACAATTACGGGCAGATTGCCATCTTCAGGTACCCTCTGC
104886061	35633	NM_000495.4(COL4A5):c.584G>A (p.Gly195Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108575947	CTGGTCCCACTGGTATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGTAAG
121912718	32952	NM_000039.2(APOA1):c.478G>A (p.Glu160Lys)	APOA1	Aug 25, 1984	na	APOLIPOPROTEIN A-I (NORWAY)	germline	11	116836134	CTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCG
936192871	458934	NM_000050.4(ASS1):c.370G>A (p.Asp124Asn)	ASS1	Sep 22, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130464117	ACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACT
772578415	368341	NM_003060.3(SLC22A5):c.77G>A (p.Ser26Asn)	SLC22A5	Mar 07, 2015	MedGen:CN517202	not provided	germline	5	132370049	CCTTCCAGCGCCTCATCTTCTTCCTGCTCAGCGCCAGCATCATCCCCAATGGCTTCACCGG
199882533	143162	NM_015072.4(TTLL5):c.1627G>A (p.Glu543Lys)	TTLL5	May 01, 2014	MedGen:C4014501,OMIM:615860	Cone-rod dystrophy 19	germline	14	75764691	TCAAAGGCCAAGCTGCATGCTGCACTTTACGAGAGGAAGCTCCTGTCTCTGGAGGTGCGAA
148622862	21165	NM_001029.4(RPS26):c.3+1G>A	RPS26	Feb 12, 2010	MedGen:C2750080,OMIM:613309	Diamond-Blackfan anemia 10	germline	12	56042170	CTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGT
1060501350	404136	NM_000214.2(JAG1):c.2688G>A (p.Trp896Ter)	JAG1	Sep 01, 2016	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10641688	GCTGCCAGCTTCTGTTTTTCTCCAGGTCTGGTGTGGCCCTCGACCTTGCCTGCTCCACAAA
121917855	23908	NM_002181.3(IHH):c.298G>A (p.Asp100Asn)	IHH	Sep 01, 2009	Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388	Type A1 brachydactyly	germline	2	219060170	ATCTTCAAGGACGAGGAGAACACAGGCGCCGACCGCCTCATGACCCAGGTGAGCGCGATCC
104886138	35779	NM_000495.4(COL4A5):c.1718G>A (p.Gly573Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597507	TGGGTTCCCCTGGAGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATT
533055438	200335	NM_000018.3(ACADVL):c.1316G>A (p.Gly439Asp)	ACADVL	Jul 17, 2017	MedGen:CN517202	not provided	germline	17	7223859	TGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCT
-1	446836	NM_004218.3(RAB11B):c.64G>A (p.Val22Met)	RAB11B	Dec 15, 2017	MedGen:CN698604,OMIM:617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	germline	19	8399886	CGCCCAGTGGTGCTCATCGGGGACTCAGGCGTGGGCAAGAGCAACCTGCTGTCGCGCTTCA
80338724	34361	NM_014251.2(SLC25A13):c.1592G>A (p.Gly531Asp)	SLC25A13	Jan 05, 2012	MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598	Neonatal intrahepatic cholestasis caused by citrin deficiency	not provided	7	96121997	GACTGAGATGGTGTTGTGTCTCTCCTGCAGGTATGCCTGCAGCATCTTTAGTGACCCCTGC
121908130	19474	NM_003978.4(PSTPIP1):c.688G>A (p.Ala230Thr)	PSTPIP1	Jan 31, 2017	MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN517202	Pyogenic arthritis, pyoderma gangrenosum and acne;not provided	germline	15	77031225	GAGTTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCA
879254171	244617	NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter)	ATM	Dec 18, 2015	MedGen:CN517202	not provided	germline	11	108302947	GGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGA
199472936	78175	NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser)	KCNH2	Feb 18, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C3150943,OMIM:613688	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 2	germline	7	150951592	GACCAGATAGGCAAACCCTACAACAGCAGCGGCCTGGGCGGCCCCTCCATCAAGGACAAGT
281865137	49430	NM_000399.4(EGR2):c.1142G>A (p.Arg381His)	EGR2	Oct 18, 2012	MedGen:C1843247,OMIM:607678,Orphanet:ORPHA101084	Charcot-Marie-Tooth disease, demyelinating, type 1d	not provided	10	62813496	AGTGTCGGATCTGCATGCGCAACTTCAGCCGCAGTGACCACCTCACCACCCATATCCGCAC
398122402	94407	NM_002052.4(GATA4):c.661G>A (p.Gly221Arg)	GATA4	Dec 16, 2013	MedGen:C3809858,OMIM:615542	Testicular anomalies with or without congenital heart disease	germline	8	11748963	TTCTCAGAAGGCAGAGAGTGTGTCAACTGTGGGGCTATGTCCACCCCGCTCTGGAGGCGAG
875989819	200691	NM_004370.5(COL12A1):c.7840+1G>A	COL12A1	May 01, 2014	MedGen:C4225314,OMIM:616470	Ullrich congenital muscular dystrophy 2	germline	6	75113601	ACAAACCACAAGTTGGAGTGATTGCAGATCGTAAGAATTTTTATCTTAAGGCACATGCATA
60310264	29541	NM_170707.3(LMNA):c.433G>A (p.Glu145Lys)	LMNA	Jan 08, 2015	MedGen:C4016241;MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004;MedGen:CN517202	Hutchinson-Gilford progeria syndrome, atypical;Hutchinson-Gilford syndrome;not provided	germline	1	156130693	AAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGA
774048743	213819	NM_000070.2(CAPN3):c.133G>A (p.Ala45Thr)	CAPN3	Feb 04, 2014	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42359938	GGGGGTGGAAACCCAAGTGGCATCTATTCAGCCATCATCAGCCGCAATTTTCCTATTATCG
398123289	98631	NM_000276.3(OCRL):c.2582-1G>A	OCRL	Nov 01, 2012	MedGen:C1845167,OMIM:300555,Orphanet:ORPHA93623;MedGen:C0028860,OMIM:309000,Orphanet:ORPHA534,SNOMED CT:79385002	Dent disease 2;Lowe syndrome	germline	X	129590145	AGTTTCCGCTTGTCTTTCTCTCGTCTTGTAGCTACTCTCTTCACTAGTCTTCTCCTGAGGC
74315374	20997	NM_006996.2(SLC19A2):c.750G>A (p.Trp250Ter)	SLC19A2	Jul 01, 1999	MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED CT:237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	germline	1	169477212	CACCCCAGCTTCTAACCACCTTCCTGGCTGGGAGGACATTGAGTCAAAAATCCCTCTAAAT
-1	472610	NM_000465.3(BARD1):c.653G>A (p.Trp218Ter)	BARD1	Mar 11, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214781221	AGAAAACTTTAGCTGAAATCAACCAAAAATGGAATTTAGAGGCAGAAAAAGAAGATGGTGA
188343279	39134	NR_023343.1(RNU4ATAC):n.51G>A	RNU4ATAC	Apr 28, 2017	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008;Gene:57788,MedGen:C1846059,OMIM:616651,Orphanet:ORPHA353298	Osteodysplastic primordial dwarfism, type 1;Roifman syndrome	not provided	2	121530930	TGCGCTACTGTCCAATGAGCGCATAGTGAGGGCAGTACTGCTAACGCCTGAACAACACACC
137852560	24906	NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter)	SYN1	Mar 01, 2004	MedGen:C1845343,OMIM:300491,Orphanet:ORPHA85294	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	germline	X	47576222	CCACCCTTTGTCTTGGCAGATACAAGCTGTGGGTGGACACGTGCTCAGAGATTTTTGGGGG
1114167292	243980	NM_014687.3(RUBCN):c.319G>A (p.Glu107Lys)	RUBCN	Jan 10, 2016	Human Phenotype Ontology:HP:0006808,MedGen:C2677328;Human Phenotype Ontology:HP:0002987,MedGen:C0409338;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0006380,MedGen:C0409355;Human Phenotype Ontology:HP:0001252,MedGen:C0026827;Human Phenotype Ontology:HP:0000639,MedGen:C0028738	Cerebral hypomyelination;Elbow flexion contracture;Global developmental delay;Intellectual disability;Knee flexion contracture;Muscular hypotonia;Nystagmus	inherited	3	197704686	CCCTTTGCTTCCCAGTTCATCAGCGTGCACGAGAACGACCAGAGCAGTGCTGATGGTGCCA
121434523	20740	NM_005977.3(RNF6):c.724G>A (p.Ala242Thr)	RNF6	Aug 01, 2002	MedGen:C4016881	Esophageal squamous cell carcinoma, somatic	somatic	13	26215158	TTGGGAAGGTTAAGAAATGGAATTGGGGGAGCAGCTGGCATTCCTCGAGCTAACGCTTCAC
267608656	165876	NM_003159.2(CDKL5):c.2376+1G>A	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	unknown	X	18619967	ATGAAAAAGAAAAAGAAGAAATCTCAAACAGTAAGTAGATGACCAGTTTCTATATATAATA
74315371	27825	NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr)	SDHB	May 09, 2002	Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Pheochromocytoma	germline	1	17028721	GTGTGTCTCTTTCAGGCATCTGTGGCTCTTGTGCAATGAACATCAATGGAGGCAACACTCT
398123901	100426	NM_004006.2(DMD):c.2622+1G>A	DMD	-	MedGen:C3668940,OMIM:302045	Dilated cardiomyopathy 3B	germline	X	32491276	GCAATTAAAAGTCAGTTAAAAATTTGTAAGGTAAGAATCTCTTCTCCTTCCATTTGGAGCA
199473305	78859	NM_198056.2(SCN5A):c.5227G>A (p.Gly1743Arg)	SCN5A	Apr 24, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38551145	CCCAACAGCAATGGCTCTCGGGGGGACTGCGGGAGCCCAGCCGTGGGCATCCTCTTCTTCA
869312427	223900	NM_000169.2(GLA):c.805G>A (p.Val269Met)	GLA	Jul 04, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398564	TTTGAATTATTTCATTCTTTTTCTCAGTTAGTGATTGGCAACTTTGGCCTCAGCTGGAATC
267606961	19035	NM_001243766.1(POMGNT1):c.1425G>A (p.Trp475Ter)	POMGNT1	Oct 01, 2007	na	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3	germline	1	46192212	CGTGGTCCATGTCTGCCAGCTCTGGGATTGGGACATGTGGATGCGGATGCCTGAACAACGC
587779469	106907	NM_000090.3(COL3A1):c.3239G>A (p.Gly1080Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006974	CTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCAT
121434309	16868	NM_005767.5(LPAR6):c.565G>A (p.Glu189Lys)	LPAR6	Jun 01, 2008	MedGen:C1848435,OMIM:278150	Hypotrichosis 8	germline	13	48411859	ACATATCTCTCAAGGATTGTAATTTTCATCGAAATAGTGGGATTTTTTATTCCTCTAATTT
104886132	35790	NM_000495.4(COL4A5):c.1783G>A (p.Gly595Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598705	TTCTGTATTAAACTTTTCCCTTTTTAGGGTGGAATTACTTTTAAGGGTGAAAGAGGTCCCC
104893808	27865	NM_003106.3(SOX2):c.571G>A (p.Ala191Thr)	SOX2	Sep 01, 2006	MedGen:C1859774	Optic nerve hypoplasia and abnormalities of the central nervous system	germline	3	181712931	CCGCAGCACCCGGGCCTCAATGCGCACGGCGCAGCGCAGATGCAGCCCATGCACCGCTACG
57758262	18040	NM_000226.3(KRT9):c.488G>A (p.Arg163Gln)	KRT9	Jul 30, 2003	Human Phenotype Ontology:HP:0007559,MedGen:C1721006,OMIM:144200,Orphanet:ORPHA2199;MedGen:CN517202	Epidermolytic palmoplantar keratoderma;not provided	germline	17	41571505	AGAAGAGCACCATGCAGGAACTCAATTCTCGGCTGGCCTCTTACTTGGATAAGGTGCAGGC
794728249	197646	NM_000138.4(FBN1):c.6418G>A (p.Gly2140Arg)	FBN1	Jul 02, 2014	MedGen:CN517202	not provided	germline	15	48437039	GAATGCAAAGAACCCGATGTCTGTAAACATGGACAGTGCATCAATACAGATGGTTCCTATC
-1	430797	NM_005676.4(RBM10):c.1249-1G>A	RBM10	Jun 24, 2016	MedGen:C1839463,OMIM:311900,Orphanet:ORPHA2886	TARP syndrome	germline	X	47181214	TTCTAATGAACCCCTCCCACCTGCCCTTCAGGCCTCCCAAGGTGGGGAGGGTACCTGGGCC
386134131	51219	NM_000096.3(CP):c.2675G>A (p.Gly892Glu)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149178618	ATTTTTCTTGTTTCCAGGACCTCTACAGTGGATTAATTGGCCCCCTGATTGTTTGTCGAAG
-1	466407	NM_000267.3(NF1):c.479+1G>A	NF1	Feb 06, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31163377	CAATGCAGTCTTTAGTCGCATTTCTACCAGGTTAGTGTGTAAATCCACATGGGACTACTGA
-1	485770	NM_001042492.2(NF1):c.2251+1G>A	NF1	Oct 26, 2014	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31226685	TTGCCTCTGTCAGCAATATGATGTCAACAGGTAAATGTGAATAGTGGTTTTTTTTACTCAG
794727285	192447	NM_001199397.1(NEK1):c.117+1G>A	NEK1	Apr 02, 2015	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	germline	4	169602513	TATGTTATCAAGGAAATTAACATCTCAAGAGTAAGTATATTTTTAGTTTGGTTTCATGAGT
66521141	103010	NM_000531.5(OTC):c.154G>A (p.Glu52Lys)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367367	CTTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATATATGCTATGGCTATCAGCAG
587776617	20194	NM_020632.2(ATP6V0A4):c.418-1G>A	ATP6V0A4	Sep 01, 2000	MedGen:C1864498,OMIM:602722,Orphanet:ORPHA402041	Renal tubular acidosis, distal, autosomal recessive	germline	7	138762435	TAAATGAAAATCATAGTGCTTTGACTTTCAGACGGAAACCAATTTAGCTGATGATTTCTTT
-1	461848	NM_000280.4(PAX6):c.3G>A (p.Met1Ile)	PAX6	May 25, 2017	MedGen:C0344542,OMIM:106210;Human Phenotype Ontology:HP:0000659,MedGen:C0344559,OMIM:604229,SNOMED CT:204153003	Aniridia 1;Irido-corneo-trabecular dysgenesis	germline	11	31806409	AATCCCGCGGCCCCCAGCCAGAGCCAGCATGCAGAACAGTAAGTGCCTCTGGTCTTTCTGG
121913661	29098	NM_007103.3(NDUFV1):c.640G>A (p.Glu214Lys)	NDUFV1	Oct 15, 2015	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline	11	67610510	TACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCC
104894368	29104	NM_000432.3(MYL2):c.64G>A (p.Glu22Lys)	MYL2	Oct 07, 2016	Human Phenotype Ontology:HP:0100613,MedGen:C4022012;MedGen:C1834460,OMIM:608758;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Death in early adulthood;Familial hypertrophic cardiomyopathy 10;Primary familial hypertrophic cardiomyopathy;not provided	germline;unknown	12	110919133	GGCGCCAACTCCAACGTGTTCTCCATGTTCGAACAGACCCAAATCCAGGAATTTAAGGAGG
766076524	226375	NM_004174.3(SLC9A3):c.1145G>A (p.Arg382Gln)	SLC9A3	Oct 06, 2016	MedGen:CN515063,OMIM:616868	Diarrhea 8, secretory sodium, congenital	germline	5	483270	TCCTGACGCTGGTCTTCATCTCCGTGTACCGGGCCATCGGTGAGGCGGGGCCGGGTTGCGG
-1	426407	NM_006359.2(SLC9A6):c.803+1G>A	SLC9A6	Jun 21, 2017	MedGen:CN517202	not provided	germline	X	136002214	CAATGATGCTGTTGCCATAGTGCTGTCCTCGTAAGTGTTTGTTTTCTTATTATATTCTGAA
121434593	29021	NM_001626.5(AKT2):c.821G>A (p.Arg274His)	AKT2	Feb 01, 2009	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006	Diabetes mellitus type 2	germline	19	40237979	AGTACTTGCACTCGCGGGACGTGGTATACCGCGACATCAAGGTTAGTGGCAGGGTGTGCGC
28939070	20619	NM_014112.4(TRPS1):c.2894G>A (p.Arg965His)	TRPS1	Jun 27, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006;MedGen:C0432233,OMIM:190350,SNOMED CT:254091006;MedGen:C1860823,OMIM:190351	Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome type 3	germline	8	115415014	AGCAGATTATTAGGAGGAGAACAAGAAAGCGCCTTAACCCAGAGGCACTTCAGGCTGAGCA
730880022	178323	NM_000152.4(GAA):c.1004G>A (p.Gly335Glu)	GAA	-	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80108338	GCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTACATCTTCCTGGGCCC
-1	482250	NM_001193416.2(DDX3X):c.543+5G>A	DDX3X	Nov 21, 2017	MedGen:CN517202	not provided	germline	X	41342841	ACAACTGTCCTCCACATATTGAAAGTGTGAGTATTTTTGCTTGACTTTTTAAGACACAGAG
796052634	203777	NM_172107.3(KCNQ2):c.809G>A (p.Trp270Ter)	KCNQ2	May 08, 2014	MedGen:CN517202	not provided	germline	20	63442413	ACTTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGGTGAGTTGTGGTCATTGTGGTTT
387906266	16985	NM_030957.3(ADAMTS10):c.810+1G>A	ADAMTS10	Nov 01, 2004	MedGen:C1869114,OMIM:277600	Weill-Marchesani syndrome 1	germline	19	8600927	GAGCAGTATGTCCTGGCCATCATGAACATTGTAAGTGCCTTCCCCTCCCTGGGCACGCAGC
-1	427264	NM_000038.5(APC):c.1779G>A (p.Trp593Ter)	APC	Sep 03, 2014	MedGen:CN240755	Familial adenomatous polyposis	germline	5	112834986	AACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAA
80356671	28426	NM_000207.2(INS):c.287G>A (p.Cys96Tyr)	INS	Jun 18, 2014	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885;MedGen:CN517202	Permanent neonatal diabetes mellitus;not provided	germline	11	2159898	TGCAGAAGCGTGGCATTGTGGAACAATGCTGTACCAGCATCTGCTCCCTCTACCAGCTGGA
104886174	35850	NM_000495.4(COL4A5):c.2332G>A (p.Gly778Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108606829	AAAGGAGCACTTGGTCCAAAAGGTGATCGTGGTTTCCCAGGACCTCCGGGTCCTCCAGGAC
121917927	79398	NM_006920.4(SCN1A):c.1178G>A (p.Arg393His)	SCN1A	Jun 14, 2017	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline;unknown	2	166046969	AATTCTGATATTTTTGTTTGCAGACATTACGTGCTGCTGGGAAAACGTACATGATATTTTT
587776654	22329	NM_001814.5(CTSC):c.890-1G>A	CTSC	Dec 01, 1999	MedGen:C0030360,OMIM:245000,Orphanet:ORPHA678,SNOMED CT:40158001	Papillon-Lefèvre syndrome	germline	11	88294509	AGGGGTAACCATGTGTGTTATTCATCTTCAGGCTGTGAAGGCGGCTTCCCATACCTTATTG
397516464	52806	NM_001001430.2(TNNT2):c.392G>A (p.Arg131Gln)	TNNT2	Sep 13, 2017	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	1	201364365	GCTTTGCCTCTTCTCCTTAGGAGAGACGTCGGGCAGAGCGGGCCGAGCAGCAGCGCATCCG
542967227	269616	NM_000128.3(F11):c.1432G>A (p.Gly478Arg)	F11	Dec 22, 2015	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	germline;unknown	4	186285765	ATCCATGATCAGTATAAAATGGCAGAAAGCGGGTATGATATTGCCTTGTTGAAACTGGAAA
180177317	200641	NM_012203.1(GRHPR):c.735-1G>A	GRHPR	Apr 21, 2016	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline;unknown	9	37432007	GGGGTACCCATGTCACCACTGTCATTCCCAGGGGCGACGTCGTAAACCAGGACGACCTGTA
397514753	75583	NM_001077416.2(TMEM231):c.823G>A (p.Val275Ile)	TMEM231	Dec 01, 2014	MedGen:C3809352,OMIM:615397;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005	Meckel syndrome, type 11;Meckel-Gruber syndrome	germline	16	75542602	CATATTGTTGCTGCCTACCAGGAGAGGAACGGTGAGTCACAGGTAGAGCCCATTCAGCCGC
1057516291	357835	NM_000136.2(FANCC):c.339G>A (p.Trp113Ter)	FANCC	Jul 19, 2017	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002;MedGen:C3468041,OMIM:227645;MedGen:C0027672,SNOMED CT:699346009	Fanconi anemia;Fanconi anemia, complementation group C;Hereditary cancer-predisposing syndrome	germline;unknown	9	95240655	GAATTCTGGACAATCAAAACTTAACTCCTGGATACAGGTAAGAGAGTAAATCTTGCTCTGC
760915898	270185	NM_025114.3(CEP290):c.4437+1G>A	CEP290	Jun 07, 2017	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1857821,OMIM:611755;MedGen:C0265215,Orphanet:ORPHA564,SNOMED CT:29076005;MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:CN517202	Joubert syndrome;Leber congenital amaurosis 10;Meckel-Gruber syndrome;Nephronophthisis;not provided	germline	12	88086038	ACACGGGCAACTTGCAAATCACTAGAAGAGGTAATTAGAAGAATTTGCATTTTGATTAGTG
886039373	259818	NM_000806.5(GABRA1):c.641G>A (p.Arg214His)	GABRA1	Jan 17, 2017	MedGen:C2749942,OMIM:611136;MedGen:C3810400,OMIM:615744;MedGen:CN517202	Epilepsy, juvenile myoclonic 5;Epileptic encephalopathy, early infantile, 19;not provided	de novo;germline	5	161882639	GCTCAGTGGTTGTAGCAGAAGATGGATCACGTCTAAACCAGTATGACCTTCTTGGACAAAC
555449842	402186	NM_000135.2(FANCA):c.1827-1G>A	FANCA	Nov 29, 2016	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002	Fanconi anemia	germline	16	89775816	GACTTAATTGTATTGTTTTCCTGTGATCCAGAGCAGATAAAATCCCCCCATCTCTGTACTC
762394978	213853	NM_004006.2(DMD):c.7755G>A (p.Trp2585Ter)	DMD	Aug 12, 2015	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31679492	GAATGAAATGTTAAAGGATTCAACACAATGGCTGGAAGCTAAGGAAGAAGCTGAGCAGGTC
886044246	273956	NM_000532.4(PCCB):c.184-1G>A	PCCB	Aug 25, 2016	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136255855	ACATCACTGAGTGATCTTTGTTCCATTGTAGGGAAAGCTAACAGCCAGGGAGAGGATCAGT
886037634	59835	NM_023110.2(FGFR1):c.1042G>A (p.Gly348Arg)	FGFR1	Sep 13, 2016	na;MedGen:CN517202	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO;not provided	germline	8	38421836	GAGTATACGTGCTTGGCGGGTAACTCTATCGGACTCTCCCATCACTCTGCATGGTTGACCG
139428292	39421	NM_005105.4(RBM8A):c.-21G>A	RBM8A	Dec 08, 2016	MedGen:C0175703,OMIM:274000,Orphanet:ORPHA3320,SNOMED CT:85589009;MedGen:CN517202	Radial aplasia-thrombocytopenia syndrome;not provided	germline;inherited	1	145927447	CGAGGTACCTAGTGTCTGAGCGGCACAGACGAGATCTCGATCGAAGGCGAGATGGCGGACG
151344503	27210	NM_000500.7(CYP21A2):c.1217G>A (p.Trp406Ter)	CYP21A2	May 01, 1993	MedGen:C0852654,OMIM:201910	21-hydroxylase deficiency	germline	6	32040766	AGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCC
147257424	185791	NM_005957.4(MTHFR):c.337G>A (p.Ala113Thr)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11801299	TCAGACAAGGAGACCTCCTCCATGATGATCGCCAGCACCGCCGTGAACTACTGTGGCCTGG
121917935	79467	NM_006920.5(SCN1A):c.580G>A (p.Asp194Asn)	SCN1A	Oct 05, 2017	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline;unknown	2	166054660	ACTTTCCTTCGGGATCCATGGAACTGGCTCGATTTCACTGTCATTACATTTGCGTAAGTGC
121912888	32427	NM_001844.4(COL2A1):c.1547G>A (p.Gly516Asp)	COL2A1	Apr 30, 2004	MedGen:C0220685,OMIM:200610,Orphanet:ORPHA93296	Achondrogenesis, type II	germline	12	47985946	TGGCTCCTTAGGGTGCTCCCGGCAACCGCGGTTTCCCAGGTCAAGATGGTCTGGCAGGTCC
397514493	45893	NM_005340.6(HINT1):c.278G>A (p.Gly93Asp)	HINT1	Oct 01, 2012	MedGen:CN074193,OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	germline	5	131159550	AATGTGCTGCTGATCTGGGCCTGAATAAGGGTTATCGAATGGTGGTGAATGAAGGTTCAGA
869312807	226377	NM_004174.3(SLC9A3):c.805G>A (p.Ala269Thr)	SLC9A3	Oct 06, 2016	MedGen:CN515063,OMIM:616868	Diarrhea 8, secretory sodium, congenital	germline	5	484647	CTGGGGGGCACGCTGGTGGGGGTGGTCTTCGCCTTCCTGCTGTCGCTGGTGACGCGCTTCA
121912434	29794	NM_000454.4(SOD1):c.125G>A (p.Gly42Asp)	SOD1	Apr 01, 1995	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31663842	TGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGG
200482683	131950	NM_014625.3(NPHS2):c.868G>A (p.Val290Met)	NPHS2	Nov 10, 2016	MedGen:C3496337,Orphanet:ORPHA357502;MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656;na	Idiopathic nephrotic syndrome;Nephrotic syndrome, idiopathic, steroid-resistant;Nephrotic syndrome, type 2, susceptibility to	germline;unknown	1	179552608	GTGGAGGCTGAAGCGCAAAGACAAGCCAAAGTGCGGGTGAGCACTCCATCCTCCCACCCAG
587782958	165560	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Apr 19, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47333552	GGCCACGCTGGTGCTGCAGGTTGTTGGTGCGTGGCCAAGGCCTCCTTGAGCCCCCTTGTTT
80338940	32068	NM_004004.5(GJB2):c.-23+1G>A	GJB2	May 09, 2017	MedGen:C2673759,OMIM:220290;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, autosomal recessive 1A;Hearing impairment;Nonsyndromic hearing loss and deafness;not provided	germline;unknown	13	20192782	CCGGCCCCGCCGCGCTTCCTCCCGACGCAGGTGAGCCCGCCGGCCCCGGACTGCCCGGCCA
150511103	260025	NM_015665.5(AAAS):c.1331+1G>A	AAAS	Aug 28, 2017	MedGen:C0271742,OMIM:231550,Orphanet:ORPHA869,SNOMED CT:45414006;MedGen:CN517202	Glucocorticoid deficiency with achalasia;not provided	germline	12	53308051	AAACAGCCCTGTGTTTGAGCTCCTTCCCTGGTAAGTGCCATGTGGGCCCTTAGGTCTGGAC
777201305	187039	NM_000159.3(GCDH):c.482G>A (p.Arg161Gln)	GCDH	Feb 09, 2016	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline;unknown	19	12893630	CTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTG
121913273	40609	NM_006218.3(PIK3CA):c.1624G>A (p.Glu542Lys)	PIK3CA	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;MedGen:C2752042,OMIM:612918,Orphanet:ORPHA140944;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MeSH:D010051,MedGen:CN236629;MeSH:C538614,MedGen:C1336078;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MeSH:D002583,MedGen:CN236667;MedGen:CN517202	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Colorectal Neoplasms;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;Glioblastoma;Hepatocellular carcinoma;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of ovary;Neoplasm of the breast;Non-small cell lung cancer;Ovarian Neoplasms;Papillary renal cell carcinoma, sporadic;Small cell lung cancer;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms;not provided	somatic	3	179218294	AAAGCAATTTCTACACGAGATCCTCTCTCTGAAATCACTGAGCAGGAGAAAGATTTTCTAT
879253786	244091	NM_003922.3(HERC1):c.2625G>A (p.Trp875Ter)	HERC1	Aug 04, 2016	MedGen:C4310766,OMIM:617011,Orphanet:ORPHA457359	Macrocephaly, dysmorphic facies, and psychomotor retardation	germline	15	63734745	TTCTCTTTTACCTCAAGGACCTGATAGATGGGAAAGCTTATCTAAAGGACAGGTAGGCCTT
876661151	360939	NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn)	GRIN2B	Oct 11, 2016	Human Phenotype Ontology:HP:0000483,MedGen:C0004106,OMIM:603047,SNOMED CT:82649003;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;MedGen:C4015316,OMIM:616139;Human Phenotype Ontology:HP:0001382,MedGen:C1844820;Human Phenotype Ontology:HP:0100807,MedGen:C1858091;Human Phenotype Ontology:HP:0001270,MedGen:C1854301	Astigmatism;Delayed speech and language development;Epileptic encephalopathy, early infantile, 27;Joint hypermobility;Long fingers;Motor delay	germline;unknown	12	13608611	GAATATGTGGACCAGGTTTCTGGCCTGAGCGACAAAAAGGTAAGAGACTCATTTGAAATCT
-1	444146	NM_000535.6(PMS2):c.2275+1G>A	PMS2	Apr 04, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	7	5978595	ATGGCTTTGATTTTGTTATCGATGAAAATGGTAAGTTATTAATTAGAACTATAGCGGCTGG
118204442	15745	NM_000512.4(GALNS):c.776G>A (p.Arg259Gln)	GALNS	May 01, 1998	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88835335	CACCATCCTGCAGGTATGGAGACGCCGTCCGGGAGATTGATGACAGCATTGGGAAGATACT
121434487	23118	NM_000430.3(PAFAH1B1):c.484G>A (p.Gly162Ser)	PAFAH1B1	Dec 19, 2014	MedGen:C1843916,OMIM:607432	Lissencephaly 1	de novo;germline	17	2670247	TCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATA
62637037	26460	NM_022567.2(NYX):c.1049G>A (p.Trp350Ter)	NYX	Nov 01, 2000	MedGen:C1839601,OMIM:310500;MedGen:CN517202	Congenital stationary night blindness, type 1A;not provided	germline	X	41474502	GCGACTGCCGTCTGGAGTGGCTGAGGGACTGGATGGAGGGCTCCGGACGTGTCACCGACGT
138761187	205371	NM_032485.5(MCM8):c.1954-1G>A	MCM8	Jun 01, 2015	Gene:100302518,MedGen:C2752067,OMIM:612885	Premature ovarian failure 10	germline	20	5985921	TGTTATCTTGGGCCTTTTAATCATGCTTCAGGTGGTTCCTGGAGAAACAATAGATCCCATT
-1	439865	NM_004895.4(NLRP3):c.2759G>A (p.Arg920Gln)	NLRP3	Nov 28, 2017	MedGen:CN653906,OMIM:617772	DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION	germline	1	247444061	CTAATCAGAATCTCACGCACCTTTACCTGCGAGGCAACACTCTCGGAGACAAGGGGATCAA
281865037	46986	NM_024312.4(GNPTAB):c.3435-1G>A	GNPTAB	May 10, 2012	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006	Mucopolysaccharidosis, MPS-III-A	not provided	12	101753540	AACTAATAACCCTGGCTCTCTGTTATTTCAGGAAGTTTGTTTGCCTGAATGACAACATTGA
142742242	171070	NM_000312.3(PROC):c.1201G>A (p.Asp401Asn)	PROC	Jun 01, 2014	MedGen:C2674321,OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	germline	2	127428761	CTCGGGGACCGGCAGGATGCCTGCGAGGGCGACAGTGGGGGGCCCATGGTCGCCTCCTTCC
121917972	79416	NM_006920.4(SCN1A):c.2816G>A (p.Gly939Glu)	SCN1A	Mar 30, 2015	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline;unknown	2	166037873	CCTTCCTGATTGTGTTCCGCGTGCTGTGTGGGGAGTGGATAGAGACCATGTGGGACTGTAT
122445111	26784	NM_000489.4(ATRX):c.659G>A (p.Cys220Tyr)	ATRX	Oct 23, 2000	MedGen:C4016452	Mental retardation-hypotonic facies syndrome, X-linked	germline	X	77684942	GCCGTGACTCAGATGGAATGGATGAACAATGTAGGTAGGTAATATAGATGAGCTAACATTC
63750639	95465	NM_000249.3(MLH1):c.1998G>A (p.Trp666Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37048912	GTATTGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTTTGAAAGCCTC
-1	481357	NM_001875.4(CPS1):c.3980G>A (p.Cys1327Tyr)	CPS1	Dec 09, 2017	MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004	Congenital hyperammonemia, type I	germline	2	210663175	GGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAG
761765983	422236	NM_000159.3(GCDH):c.892G>A (p.Ala298Thr)	GCDH	Apr 26, 2017	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric aciduria, type 1;not provided	germline	19	12896949	GGCTGCCTGAACAACGCCCGGTACGGCATCGCGTGGGGCGTGCTTGGAGCTTCGGAGTTCT
587778818	76837	NM_000784.3(CYP27A1):c.410G>A (p.Arg137Gln)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218809731	GGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATGGGCCGTT
104894086	24034	NM_000349.2(STAR):c.545G>A (p.Arg182His)	STAR	Aug 09, 2017	MedGen:C0342474,OMIM:201710,Orphanet:ORPHA90790,SNOMED CT:44231009;MedGen:CN517202	Cholesterol monooxygenase (side-chain cleaving) deficiency;not provided	germline	8	38146068	CCGAGGCAGCAGGAAACCTGGTGGGGCCCCGTGACTTTGTGAGCGTGCGCTGTGCCAAGCG
767402084	472481	NM_001128425.1(MUTYH):c.36G>A (p.Trp12Ter)	MUTYH	Aug 29, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	45340219	ACCGCTCGTCTCCCGCCTGAGTCGTCTGTGGGTACGCTGGACTTGCGGTCCGTCTCCTGGC
876658367	232176	NM_003000.2(SDHB):c.587G>A (p.Cys196Tyr)	SDHB	Feb 21, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;not provided	germline	1	17024028	GCATTCTCTGTGCCTGCTGTAGCACCAGCTGCCCCAGCTACTGGTGGAACGGAGACAAATA
886041900	264374	NM_033100.3(CDHR1):c.863-1G>A	CDHR1	Jan 31, 2017	MedGen:CN517202	not provided	germline	10	84205826	GCAGAACTTCAGGGTGCATCTCCCTTGACAGGGAACGATGGAGCCTTTGAAATTAATGAGA
727503567	172959	NM_001256850.1(TTN):c.66398G>A (p.Trp22133Ter)	TTN	Aug 21, 2014	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	2	178574811	TGGAAATGCGGCAGACTGACAGTACTACCTGGGTTGAGTTAGCAACCACCGTTATACGTAC
587782144	151677	NM_000546.5(TP53):c.473G>A (p.Arg158His)	TP53	Aug 31, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;not provided	germline;unknown	17	7675139	ATTCCACACCCCCGCCCGGCACCCGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCA
1057520566	368627	NM_000094.3(COL7A1):c.4670G>A (p.Gly1557Glu)	COL7A1	Apr 28, 2015	MedGen:CN517202	not provided	germline	3	48581758	CTAGCACTGATGGTCTTTGTCACCTCCAGGGAGATGTGGGGCCCGCTGGGCCCAGAGGAGC
864309479	170951	NM_030777.3(SLC2A10):c.1411+1G>A (p.Val430_I470del)	SLC2A10	Sep 10, 2014	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342	Arterial tortuosity syndrome	germline	20	46726987	TCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTT
766256391	395512	NM_001206927.1(DNAH8):c.7866G>A (p.Trp2622Ter)	DNAH8	Nov 10, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	6	38882917	ATGAAATTTTACTTATTATATAGGTGATTGGGAGCACTGGAATAAGAAACTTCAGCCTTAT
730880265	16967	NM_022132.4(MCCC2):c.1574+1G>A	MCCC2	Jan 01, 2005	MedGen:C1859499,OMIM:210210	3-methylcrotonyl CoA carboxylase 2 deficiency	germline	5	71652755	GGAAGGAAACCCTTACTATTCCAGCGCAAGGTGGGGGCCAGAACATCACTAACTCTCTGAT
121912816	32546	NM_020549.4(CHAT):c.1321G>A (p.Glu441Lys)	CHAT	Feb 13, 2001	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49648546	GGCCGAGACGGCACCTGCGGTGTGGTGTGCGAACACTCCCCATTCGATGGCATCGTCCTGG
587777763	40291	NM_024110.4(CARD14):c.349+5G>A	CARD14	Nov 25, 2014	MedGen:C1864497,OMIM:602723	Psoriasis susceptibility 2	germline	17	80182795	TGATGTTGACTTCAGTAACTTTAGCGGTGAGAGCTCCGACTTTGACGGTTTGGCAGGCACT
121908528	20688	NM_000030.2(AGXT):c.738G>A (p.Trp246Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240875166	GCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAG
137853201	28296	NM_001079.3(ZAP70):c.1394G>A (p.Arg465His)	ZAP70	Dec 14, 2012	MedGen:C1849236,OMIM:269840	Severe combined immunodeficiency, atypical	germline	2	97737577	AGAACTTTGTGCACCGTGACCTGGCGGCCCGCAACGTCCTGCTGGTTAACCGGCACTACGC
746212325	214307	NM_019892.5(INPP5E):c.907G>A (p.Val303Met)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136434769	TACTTCCCAGACCGGAACGTGGCACTCTTCGTGGCCACCTGGAACATGCAGGGCCAGAAGG
112728248	400648	NM_000138.4(FBN1):c.5627G>A (p.Cys1876Tyr)	FBN1	Jun 02, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48448812	TTGACACAGTTGGAAGCTTTTATTGCCTTTGCCACACTGGTTTTAAAACAAATGATGACCA
587776873	39200	NM_002775.4(HTRA1):c.883G>A (p.Gly295Arg)	HTRA1	Sep 11, 2014	MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	germline	10	122506796	CCGTTTTCCCTTCAAAACACAGTCACCACCGGGATCGTGAGCACCACCCAGCGAGGCGGCA
1131691714	421271	NM_014795.3(ZEB2):c.3067+1G>A	ZEB2	May 02, 2017	MedGen:CN517202	not provided	germline	2	144396411	CCCTTCTGCGACATAAATACGAACACACAGGTATGAGTGACTTTGCCTAACTGGTTAGAGC
72549410	78547	NM_000335.4(SCN5A):c.1231G>A (p.Val411Met)	SCN5A	Jun 13, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C1859062,OMIM:603830;MedGen:CN517202	Brugada syndrome;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 3;not provided	germline	3	38606058	TCCTTCTACCTGGTGAACCTGATCCTGGCCGTGGTCGCAATGGCCTATGAGGAGCAAAACC
1057524843	368349	NM_017651.4(AHI1):c.2609G>A (p.Trp870Ter)	AHI1	Feb 07, 2017	MedGen:CN517202	not provided	germline	6	135428643	CTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGTGAATGTTTATTGAA
-1	440007	NM_000516.5(GNAS):c.432+1G>A	GNAS	Dec 20, 2017	MedGen:C0033835,OMIM:612463,Orphanet:ORPHA79445,SNOMED CT:237659007	Pseudopseudohypoparathyroidism	de novo;germline	20	58903792	ATGAACGTGCCTGACTTTGACTTCCCTCCCGTAAGCTACACCCCGACTTGTGTGGCCTTAG
730880309	24096	NM_001698.2(AUH):c.895-1G>A	AUH	Nov 28, 2006	MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046,SNOMED CT:237950009	3-Methylglutaconic aciduria	germline	9	91216107	CTGCTGAAATGGATTATGTTTTTATTCTCAGGTCGATTTAGTAACAGGGTTAGCCATAGAA
121913064	31563	NM_000129.3(F13A1):c.2045G>A (p.Arg682His)	F13A1	Aug 15, 1992	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6151813	GAGTAACAAGACCAATGAAGAAGATGTTCCGGTAAACCTTGGGTTGGGGAGACCGGGCAGG
104893862	23133	NM_153427.2(PITX2):c.185G>A (p.Arg62His)	PITX2	Dec 01, 2004	MedGen:C1867155,OMIM:180550,Orphanet:ORPHA91481	Ring dermoid of cornea	germline	4	110621231	AGGAGCTGGAGGCCACTTTCCAGAGGAACCGCTACCCGGACATGTCCACACGCGAAGAAAT
875989925	228177	NM_000527.4(LDLR):c.1685G>A (p.Trp562Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116192	TCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGC
375681722	216940	NM_001098816.2(TENM4):c.4324G>A (p.Ala1442Thr)	TENM4	Oct 15, 2015	MedGen:C4225223,OMIM:616736	Tremor, hereditary essential, 5	germline	11	78702289	ATCTCTGAAAACCACCAGGTGCGCATTGTCGCCGGGAGGCCCATGCACTGCCAGGTCCCTG
1057516504	357644	NM_019098.4(CNGB3):c.1579-1G>A	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	unknown	8	86611672	TTCTATAAGAATTATTTTTCTTTTTATATAGGGTTGTGATACACAGATGATTTATGACATG
122460155	26566	NM_000047.2(ARSE):c.1475G>A (p.Cys492Tyr)	ARSE	Dec 12, 1997	MedGen:C1844853,OMIM:302950,Orphanet:ORPHA79345	Chondrodysplasia punctata 1, X-linked recessive	germline	X	2935127	CTGTGTTCCAGCCAGAGGGAGCCGGTGCCTGCTATGGAAGAAAGGTCTGCCCGTGCTTTGG
-1	442549	NM_198056.2(SCN5A):c.468G>A (p.Trp156Ter)	SCN5A	May 12, 2017	MedGen:CN029323,OMIM:601144	Brugada syndrome 1	unknown	3	38622414	GTTCATGGCCCAGCACGACCCTCCACCCTGGACCAAGTATGTCGAGTGAGTATCTTCAGGG
121908900	21419	NM_003880.3(WISP3):c.993G>A (p.Trp331Ter)	WISP3	Sep 01, 1999	MedGen:C0432215,OMIM:208230,Orphanet:ORPHA1159,SNOMED CT:254065005	Progressive pseudorheumatoid dysplasia	germline	6	112069548	TGAGGGGTCATTTAAATGGAAGATGCTGTGGATTACATCTTGTGTGTGTCAGAGAAACTGC
122457137	169925	NM_178151.2(DCX):c.176G>A (p.Arg59His)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410223	AGAAGAAAGCCAAGAAGGTACGTTTCTACCGCAATGGGGACCGCTACTTCAAGGGGATTGT
45514095	59193	NM_000548.4(TSC2):c.4662+1G>A	TSC2	Oct 20, 2015	Human Phenotype Ontology:HP:0012469,MedGen:C3887898;Human Phenotype Ontology:HP:0010864,MedGen:C0036857;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Infantile spasms;Intellectual disability, severe;Tuberous sclerosis syndrome	germline;unknown	16	2085323	ATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGG
78802634	22233	NM_000492.3(CFTR):c.3266G>A (p.Trp1089Ter)	CFTR	Jun 14, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN169374	Cystic fibrosis;not specified	germline;unknown	7	117611707	ACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTT
875989878	227916	NM_199436.1(SPAST):c.1149+1G>A	SPAST	Jun 29, 2017	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline;paternal	2	32128480	ATAAGTGCTGCAAGTTTAACTTCAAAATACGTGAGTGCTCTGTTTCCAATATTGTCGTATT
72558481	103271	NM_000531.5(OTC):c.995G>A (p.Trp332Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411989	TAGTGTTCCCAGAGGCAGAAAACAGAAAGTGGACAATCATGGTAAGCAAGAAACAAGGAAT
864321699	217248	NM_002052.4(GATA4):c.25G>A (p.Ala9Thr)	GATA4	May 15, 2013	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11708337	GGGACCATGTATCAGAGCTTGGCCATGGCCGCCAACCACGGGCCGCCCCCCGGTGCCTACG
398122513	24552	NM_138761.3(BAX):c.199G>A (p.Gly67Arg)	BAX	Apr 15, 1998	Human Phenotype Ontology:HP:0006727,MedGen:C1961099,Orphanet:ORPHA99861,SNOMED CT:277575008	T-cell acute lymphoblastic leukemia	somatic	19	48955799	AAGAAGCTGAGCGAGTGTCTCAAGCGCATCGGGGACGAACTGGACAGTAACATGGAGCTGC
137853332	26507	NM_003639.4(IKBKG):c.956G>A (p.Arg319Gln)	IKBKG	Mar 15, 2013	MedGen:C1970879,OMIM:300636,Orphanet:ORPHA319612	Familial atypical mycobacteriosis, type 1, X-linked	germline	X	154563602	AGGCGGACTTCCAGGCTGAGAGGCAGGCCCGGGAGAAGCTGGCCGAGAAGAAGGAGCTCCT
104893788	28087	NM_000539.3(RHO):c.341G>A (p.Gly114Asp)	RHO	May 15, 1994	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129529074	TCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCG
771028960	170944	NM_030777.3(SLC2A10):c.692G>A (p.Arg231Gln)	SLC2A10	Apr 01, 2015	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342;MedGen:CN118826,Orphanet:ORPHA91387	Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection	germline	20	46725728	TCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTT
121913680	28888	NM_000222.2(KIT):c.1747G>A (p.Glu583Lys)	KIT	Jun 01, 1992	Human Phenotype Ontology:HP:0007443,MedGen:C0080024,OMIM:172800,Orphanet:ORPHA2884,SNOMED CT:6479008	Partial albinism	germline	4	54727515	CCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCTGAGTTTTGGTC
775085213	185667	NM_001010898.3(SLC6A17):c.484G>A (p.Gly162Arg)	SLC6A17	Mar 05, 2015	MedGen:C4225395,OMIM:616269,Orphanet:ORPHA457212	Mental retardation, autosomal recessive 48	germline	1	110174012	TTTGTGGGGCTGTATTATAATGTGATCATCGGGTGGAGCATCTTCTATTTCTTCAAGTCCT
387906565	32793	NM_000342.3(SLC4A1):c.-62G>A	SLC4A1	Aug 01, 1996	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44262928	CTCAGCCTGTGCCCTCTGCTGCAGGGACCCGCGGTGCGGGTTATGCTGGGGGCTCAGATCA
1064794003	407500	NM_153704.5(TMEM67):c.887G>A (p.Trp296Ter)	TMEM67	Sep 01, 2015	MedGen:CN517202	not provided	germline	8	93780891	TAACTGTTTATAGGAGACAGAATCTTCCTTGGCTGTTTTATGGAGACCAGTTAGGATTAGC
141554661	208401	NM_004287.4(GOSR2):c.336+1G>A	GOSR2	Oct 23, 2017	MedGen:C3279627,OMIM:614018,Orphanet:ORPHA280620;MedGen:C3279627,OMIM:614018,Orphanet:ORPHA280620;MedGen:CN517202	Epilepsy, progressive myoclonic 6;Epilepsy, progressive myoclonic 6;not provided	germline	17	46932200	GAGCTTCTGTCTCGAACCTTCACCACTAACGTAAGCCAGGCCCGTGGTGAGGGTCGGCCTG
118192100	24620	m.8363G>A	MT-TK	Jan 29, 2015	MedGen:CN069290;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	Cardiomyopathy and Deafness;Leigh syndrome;Myoclonus with epilepsy with ragged red fibers	germline	MT	8363	AGATTAAGAGAACCAACACCTCTTTACAGTGAAATGCCCCAACTAAATACTACCGTATGGC
267607064	16359	NM_001174089.1(SLC4A11):c.2078G>A (p.Gly693Glu)	SLC4A11	Jul 01, 2006	MedGen:C2750450,OMIM:613268	Corneal dystrophy, Fuchs endothelial, 4	germline	20	3228952	ACCTCCTGCTCCTCGCCATCATCAACACAGGGCTGTCTCTGTTTGGGCTGCCTTGGATCCA
763542069	203858	NM_000026.3(ADSL):c.1187G>A (p.Arg396His)	ADSL	Aug 06, 2013	MedGen:CN517202	not provided	germline	22	40364361	TCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGAT
886039466	260339	NM_001399.4(EDA):c.707-1G>A	EDA	Mar 05, 2016	MedGen:CN517202	not provided	germline	X	70029503	TGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAA
886041404	264683	NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His)	KMT2D	Oct 11, 2016	MedGen:CN030661,OMIM:147920;MedGen:CN517202	Kabuki syndrome 1;not provided	de novo;germline	12	49026823	AGGGTGACGGGGCCACTGATGGGCCTGCCCGTCTGCTGAACCTGGACCTGGACCTGTGGGT
876661167	231831	NM_000834.3(GRIN2B):c.3332G>A (p.Arg1111His)	GRIN2B	Jan 16, 2017	MedGen:CN517202	not provided	germline	12	13563906	AGTTTGACGAGATCGAGCTGGCCTACCGTCGCCGACCGCCCCGCTCCCCTGACCACAAGCG
140989450	445885	NM_000018.3(ACADVL):c.1077+1G>A	ACADVL	Dec 14, 2015	MedGen:CN517202	not provided	germline	17	7222866	GGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACC
104894501	27498	NM_001018005.1(TPM1):c.118G>A (p.Glu40Lys)	TPM1	Apr 15, 2012	MedGen:C2678476,OMIM:611878	Dilated cardiomyopathy 1Y	germline	15	63044030	TCCCTGTACCCCCTGGCCAACTCCCAGCTGGAAGATGAGCTGGTGTCACTGCAAAAGAAAC
587779633	107111	NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188994760	GCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCGAAGATGGCAAGGATGGATCACCTGGAG
1057517843	359970	NM_006009.3(TUBA1A):c.641G>A (p.Arg214His)	TUBA1A	Aug 01, 2017	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011;MedGen:CN517202	Lissencephaly 3;not provided	de novo;germline	12	49185725	TAGACAATGAGGCCATCTATGACATCTGTCGTAGAAACCTCGATATTGAGCGTCCAACCTA
180177168	200433	NM_000030.2(AGXT):c.122G>A (p.Gly41Glu)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240868987	CCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAA
786203576	184313	NM_004360.4(CDH1):c.60G>A (p.Trp20Ter)	CDH1	Oct 04, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68738308	TACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCT
6063	31417	NM_021870.2(FGG):c.571G>A (p.Gly191Arg)	FGG	Dec 30, 2010	MedGen:C4016097	Fibrinogen Milano XII, digenic	germline	4	154609725	GACATTGCCAATAAGGGAGCTAAACAGAGCGGGCTTTACTTTATTAAACCTCTGAAAGCTA
121918124	29064	NM_001059.2(TACR3):c.278G>A (p.Gly93Asp)	TACR3	Mar 01, 2009	MedGen:C3553844,OMIM:614840;MedGen:CN517202	Hypogonadotropic hypogonadism 11 with or without anosmia;not provided	germline	4	103719398	GGCGCATCGCGCTCTGGTCCCTGGCGTATGGTGTGGTGGTGGCAGTGGCAGTTTTGGGAAA
750781027	404681	NM_016532.3(INPP5K):c.67G>A (p.Val23Met)	INPP5K	Apr 04, 2017	MedGen:CN241833,OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	germline	17	1513957	TTCCGCAGCATACACGTCGTGACTTGGAACGTGGCTTCGGCAGCGCCCCCTCTAGATCTCA
104895218	27374	NM_001065.3(TNFRSF1A):c.185G>A (p.Cys62Tyr)	TNFRSF1A	Apr 02, 1999	MedGen:C1275126,OMIM:142680,Orphanet:ORPHA32960,SNOMED CT:403833009	TNF receptor-associated periodic fever syndrome (TRAPS)	germline	12	6334099	CTCAAAATAATTCGATTTGCTGTACCAAGTGCCACAAAGGTAGGGGCAAGTGGAAACGGTG
879851088	268513	NM_001385.2(DPYS):c.424-1G>A	DPYS	Oct 29, 2015	MedGen:C0342803,OMIM:222748,SNOMED CT:238014002	Dihydropyrimidinase deficiency	germline	8	104447504	TATTGTTGTTATGGTTGCTGCTTCCTTTTAGGTTAAAGAAGAAATGAAAATCCTTGTGCAA
1057516121	353980	NM_172107.3(KCNQ2):c.1631+1G>A	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200;MedGen:CN517202	Benign familial neonatal seizures 1;not provided	germline	20	63414087	GGGCCTCAAAGTCAGCATCAGAGCCGTGTGGTGAGGCCCCTGCCCAGCCGGGAGCCTGGGG
11575937	29525	NM_170707.3(LMNA):c.1445G>A (p.Arg482Gln)	LMNA	Mar 09, 2017	MedGen:CN043576;MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855;MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:CN236383,Orphanet:ORPHA98301;MedGen:CN221589;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Familial partial lipodystrophy 2;Laminopathy;Partial lipodystrophy, Dunnigan;not provided	de novo;germline	1	156136985	AGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGG
397516202	52163	NM_000257.3(MYH7):c.4135G>A (p.Ala1379Thr)	MYH7	Feb 24, 2017	MedGen:C3495498,OMIM:192600;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23418244	GCCCAGTGGAGGACCAAGTATGAGACGGACGCCATTCAGCGGACTGAGGAGCTCGAGGAGG
794727028	271682	NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg)	COL6A1	Apr 18, 2017	MedGen:CN033863,OMIM:254090;MedGen:CN517202	Ullrich congenital muscular dystrophy 1;not provided	germline	21	45989752	CCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGA
606231441	170974	NM_152296.4(ATP1A3):c.2542+1G>A	ATP1A3	May 04, 2014	MedGen:C3553788,OMIM:614820	Alternating hemiplegia of childhood 2	de novo;germline;inherited	19	41970184	GACTCATCAGCATGGCCTACGGGCAGATTGGTGAGGCACCGGGGACTCCATCTCCTTACCA
863224489	213253	NM_000267.3(NF1):c.1713G>A (p.Trp571Ter)	NF1	Jun 11, 2015	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31221921	GAATCCTGATGCTCCTGTAGAAACATTTTGGGAGATTAGGTATATGTACTTTTATTTTTTA
587776652	22280	NM_003001.3(SDHC):c.3G>A (p.Met1Ile)	SDHC	Jul 01, 2003	MedGen:C1854336,OMIM:605373	Paragangliomas 3	germline	1	161314408	GTCACTTCCGTCCAGACCGGAACCCAAGATGGCTGCGCTGTTGCTGAGGTGACTTCAGTGG
797044553	185693	NM_005215.3(DCC):c.1140+1G>A (p.V329GfsTer15)	DCC	Jan 06, 2015	MedGen:C1834870,OMIM:157600	Mirror movements 1	germline	18	53063460	GTCATTCCTAGTGATTATTTTCAGATAGTGGTAATTATTTTGTTTCATATTTGTTTTATAA
730880850	179683	NM_000257.3(MYH7):c.732+1G>A	MYH7	Jan 18, 2017	MedGen:CN221582;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Cardiomyopathy, left ventricular noncompaction;Hypertrophic cardiomyopathy;Primary dilated cardiomyopathy;not provided	germline;unknown	14	23431584	ACCGTCCGGAACGACAACTCCTCCCGCTTCGTGAGTGGTCCCTGACCTTGGCCTTGGGACT
397518453	76369	NM_031157.3(HNRNPA1):c.940G>A (p.Asp314Asn)	HNRNPA1	Mar 28, 2013	MedGen:C3715156,OMIM:615426	Amyotrophic lateral sclerosis 20	germline	12	54283844	AGCAATTTTGGAGGTGGTGGAAGCTACAATGATTTTGGGAATTACAACAATCAGTCTTCAA
55863639	176641	NM_000546.5(TP53):c.375G>A (p.Thr125=)	TP53	Jun 22, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;not provided	germline;unknown	17	7675994	TTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGGCTTCCATG
28940280	17605	NM_006493.2(CLN5):c.835G>A (p.Asp279Asn)	CLN5	Jul 01, 1998	MedGen:C1850442,OMIM:256731,Orphanet:ORPHA228360	Ceroid lipofuscinosis neuronal 5	germline	13	77000580	AAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTA
-1	471954	NM_000044.4(AR):c.2495G>A (p.Arg832Gln)	AR	May 08, 2017	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67722872	TGAAAAATCAAAAATTCTTTGATGAACTTCGAATGAACTACATCAAGGAACTCGATCGTAT
879255253	181561	NM_017534.5(MYH2):c.904+1G>A	MYH2	May 01, 2010	MedGen:C1854106,OMIM:605637	Inclusion body myopathy 3	germline	17	10542874	TTACATCGAATAAGAAACCAGAACTTATTGGTAAGAAATGTCATAATTCTTTTCCAGAATT
121434640	23827	NM_000107.2(DDB2):c.818G>A (p.Arg273His)	DDB2	Dec 10, 1999	MedGen:C1848411,OMIM:278740,SNOMED CT:56048001	Xeroderma pigmentosum, group E	germline	11	47234872	TAGATCAAACAGTGAAAATTTGGGACCTGCGCCAGGTTAGAGGGAAAGCCAGCTTCCTCTA
1085307441	414417	NM_001013703.3(EIF2AK4):c.2319+1G>A	EIF2AK4	-	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	39978148	GAAGATGAGAACAGTAAAAGTCAGAATCAGGTATATATATGAATAGAAATTATATCATTTT
-1	442650	NM_000702.3(ATP1A2):c.1816G>A (p.Ala606Thr)	ATP1A2	Aug 02, 2017	MedGen:CN517202	not provided	germline	1	160130586	GTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTC
61751443	153478	NM_004992.3(MECP2):c.917G>A (p.Arg306His)	MECP2	Jan 01, 2018	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:CN517202	Rett syndrome;not provided	de novo;germline;maternal;unknown	X	154030911	TGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGT
137852519	25028	NM_000425.4(L1CAM):c.1792G>A (p.Asp598Asn)	L1CAM	Jul 01, 1994	MedGen:C0795953,OMIM:303350,Orphanet:ORPHA2466	Spastic paraplegia 1	germline	X	153868034	AACTACAGCTGCGTGGCCAGTACCGAACTGGATGTGGTGGAGAGTAGGGCACAGCTCTTGG
397514393	36387	NM_000060.4(BTD):c.929G>A (p.Gly310Glu)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644785	ATGTCCACCACCCAGTTCTGGGGATGACAGGAAGTGGCATACACACCCCTCTGGAGTCCTT
104893913	31195	NM_001018077.1(NR3C1):c.1430G>A (p.Arg477His)	NR3C1	Apr 01, 2006	MedGen:C1841972,OMIM:615962,Orphanet:ORPHA786	Glucocorticoid resistance, generalized	germline	5	143310135	AAATTCGAAGAAAAAACTGCCCAGCATGCCGCTATCGAAAATGTCTTCAGGCTGGAATGAA
1131690840	420622	NM_144997.5(FLCN):c.619-1G>A	FLCN	Jan 16, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	17222662	AAAGAGGCCATCCCTTCCCTTTGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCA
104886188	35882	NM_000495.4(COL4A5):c.2597G>A (p.Gly866Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108620346	CAGGACCCCCAGGTGAAAGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACC
75996173	28948	NM_020975.4(RET):c.1901G>A (p.Cys634Tyr)	RET	Apr 11, 2017	MedGen:C0027672,SNOMED CT:699346009;na;Human Phenotype Ontology:HP:0002865,MeSH:C536914,MedGen:C0238462,Orphanet:ORPHA1332,SNOMED CT:255032005;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN073359,Orphanet:ORPHA653,SNOMED CT:61808009;MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009;MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001;MedGen:C1970712,OMIM:610755,Orphanet:ORPHA276152;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;MEN2A and FMTC;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 4;Neoplasm;Pheochromocytoma;not provided;not specified	germline;somatic	10	43114501	CACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTT
-1	433555	NM_000138.4(FBN1):c.3221G>A (p.Cys1074Tyr)	FBN1	Jun 02, 2017	MedGen:CN169374	not specified	germline	15	48488229	CTTGCTGTTTTTGTGCAGACATTGACGAATGCCGCATATCTCCTGACCTCTGTGGCAGAGG
61752127	143215	NM_001079867.1(PEX2):c.669G>A (p.Trp223Ter)	PEX2	Mar 01, 2004	MedGen:C3542026,OMIM:614867	Peroxisome biogenesis disorder 5B	germline	8	76983510	CCAGAAGTTGAAAGCCAAGCTGTCTTCATGGTGTATTCCTCTTACTGGTGCACCTAATAGT
1057516085	354023	NM_172107.3(KCNQ2):c.602G>A (p.Arg201His)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN239858	Early infantile epileptic encephalopathy 7;Severe intellectual deficiency	de novo;germline	20	63444747	TCTTTGCCACATCTGCGCTCCGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGCAT
876660079	236527	NM_005359.5(SMAD4):c.297G>A (p.Trp99Ter)	SMAD4	Jul 17, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	18	51048733	ATTTCCTCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTA
121912566	23603	NM_000901.4(NR3C2):c.1897G>A (p.Gly633Arg)	NR3C2	Jun 01, 2003	MedGen:C1449842,OMIM:177735,Orphanet:ORPHA171871	Pseudohypoaldosteronism type 1 autosomal dominant	germline	4	148259978	TGCAAAGTTTTCTTCAAAAGAGCAGTGGAAGGTAAATGTTCATGTGGGTGTTCCTTTTACA
398123083	98187	NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln)	ACADVL	Feb 25, 2015	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005	Very long chain acyl-CoA dehydrogenase deficiency	germline;unknown	17	7224041	GGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGT
386134136	51338	NM_000096.3(CP):c.607+1G>A	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149210166	TCATCGGACCTTTAATAATCTGTAAAAAAGGTACATCTTCTCCTTATTGCACATGCTATAT
794728805	196744	NM_001035.2(RYR2):c.14465G>A (p.Arg4822His)	RYR2	Oct 17, 2014	MedGen:CN517202	not provided	germline	1	237819067	GCTATATGTTCCACATGTATGTTGGAGTTCGTGCTGGAGGAGGGATCGGGGATGAAATCGA
766567785	239039	NM_033084.4(FANCD2):c.2444G>A (p.Arg815Gln)	FANCD2	Apr 16, 2016	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002	Fanconi anemia	germline	3	10067267	CACCTGAGATGAAGGGGAAGGTGCTCACTCGGTTAAAGCACATTGTAGAATTGCAAATAAT
-1	426112	NM_000138.4(FBN1):c.2669G>A (p.Cys890Tyr)	FBN1	Nov 05, 2015	MedGen:CN517202	not provided	germline	15	48495131	GTGCTGCGTGGGGAAGCCCGTGCACCCTATGCCAAGTTGGTAAGAGAAACCCATGCTGTGG
371675497	237795	NM_016111.3(TELO2):c.2296G>A (p.Val766Met)	TELO2	Jun 17, 2016	MedGen:C4310778,OMIM:616954	You-Hoover-Fong syndrome	germline	16	1507605	CTCAGCCCCCGCCTTCTTGCCGGCAGCTACGTGCGCCAGGGGCTGTTGTCGGCCGTCTCCT
201023600	272995	NM_017433.4(MYO3A):c.2506-1G>A	MYO3A	Jul 08, 2016	MedGen:C1846784,OMIM:607101	Deafness, autosomal recessive 30	germline	10	26147429	TTGTGATAATTATAGCATACTGTATCAACAGGTCCTCTATAATGCAAGTGGATTCTTAGCC
878853228	237622	NM_016239.3(MYO15A):c.8340G>A (p.Thr2780=)	MYO15A	Feb 16, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18155225	GGTCTACTTCTCCCGCATCTTCCCCGCCACGGTGCGAGCCCCTCACTTGCCCCCTACCTGT
137852616	24508	NM_000211.4(ITGB2):c.850G>A (p.Gly284Ser)	ITGB2	Jun 14, 2016	MedGen:C0272187	Leukocyte adhesion deficiency	germline	21	44900367	AAGCTGGGCGCCATCCTGACCCCCAACGACGGCCGCTGTCACCTGGAGGACAACTTGTACA
199473609	78762	NM_198056.2(SCN5A):c.4217G>A (p.Gly1406Glu)	SCN5A	May 11, 2014	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38560175	CCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGT
199476123	24773	m.3946G>A	MT-ND1	Oct 01, 2004	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	germline	MT	3946	GAGTCCGAACTAGTCTCAGGCTTCAACATCGAATACGCCGCAGGCCCCTTCGCCCTATTCT
727504274	175459	NM_000257.3(MYH7):c.3346G>A (p.Glu1116Lys)	MYH7	Feb 15, 2014	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23420225	GAGCCCTTTGTGTCTGACCAGGCACGCATCGAGGAGCTGGAGGAGGAGCTGGAGGCCGAGC
886039808	260914	NM_025114.3(CEP290):c.4811G>A (p.Trp1604Ter)	CEP290	-	MedGen:CN199461,Orphanet:ORPHA140874	Joubert Syndrome and Related Disorders	germline	12	88083848	GTTCACTAAATAAATTCAAACAAACGGCTTGGGTAAGATTCTAAGAACTTTGTTCCATTCT
387906602	38581	NM_001846.3(COL4A2):c.3455G>A (p.Gly1152Asp)	COL4A2	Jan 13, 2012	MedGen:C3280970,OMIM:614483	Porencephaly 2	germline	13	110492070	GCTCAGACTTAATGCTGTGTTCACCCCCAGGCTTTCCAGGGCTGACTGGGCCTCCAGGGTC
1131692041	423404	NM_006013.4(RPL10):c.481G>A (p.Gly161Ser)	RPL10	Jul 05, 2017	MedGen:CN298079,OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35	germline	X	154400615	GCCCTGCGCAGGGCCAAGTTCAAGTTTCCTGGCCGCCAGAAGGTATGTAGTGCTGCAGCCC
199473224	78735	NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr)	SCN5A	Dec 12, 2016	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;na;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;SCN5A-related disorder;not provided	germline;unknown	3	38560404	CTTGAGGTGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCCATCATGAACGTCCTCCTCG
199476182	47868	NM_207352.3(CYP4V2):c.327+1G>A	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186194613	GTGGCCCTTTATAATGCAGAAAATGTGGAGGTGGGTACATGTGAATATGATCAGTATTGTA
137852907	17933	NM_000419.4(ITGA2B):c.818G>A (p.Gly273Asp)	ITGA2B	Jan 01, 1994	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44384567	CCTTGTCCTCAGGGTACTCGGTGGCCGTGGGCGAGTTCGACGGGGATCTCAACACTACAGG
199473598	78707	NM_198056.2(SCN5A):c.3691G>A (p.Glu1231Lys)	SCN5A	Nov 11, 2011	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	3	38566558	CTGCAGGCCTTCGAGGACATCTACCTAGAGGAGCGGAAGACCATCAAGGTTCTGCTTGAGT
140159323	424503	NM_024513.3(FYCO1):c.4271G>A (p.Arg1424Gln)	FYCO1	Oct 09, 2015	MedGen:C1864908,OMIM:610019	Cataract, autosomal recessive congenital 2	paternal	3	45923746	TTCCCTCCCAGGTCCTCATTCCCACGACCCGATGCAACTCCCACAAGGAGAACATCCAGGG
398122923	48487	NM_001142339.2(GNAL):c.409G>A (p.Val137Met)	GNAL	Jan 01, 2013	MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466	Dystonia 25	germline	18	11824933	TCTTTCAAACTTTAGGAATTCTTTGACCATGTGAAAAAACTTTGGGACGATGAAGGCGTGA
61750641	105317	NM_000350.2(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4	Jun 02, 2017	MeSH:C535804,MedGen:C1855465,OMIM:248200;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;Stargardt disease 1;not provided	germline	1	94005499	TTGATGCAATTGATGAGCTGCTCACAGGACGAGAACATCTTTACCTTTATGCCCGGCTTCG
879255210	246620	NM_000527.4(LDLR):c.2430G>A (p.Trp810Ter)	LDLR	Feb 17, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11129553	CTTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGC
797045152	205553	NM_001190787.1(MCIDAS):c.1142G>A (p.Arg381His)	MCIDAS	Sep 03, 2015	MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Kartagener syndrome	germline	5	55220382	TCAGAACAGCCAACGGGGGTTACAAGTTCCGCTGGGTCCCCAGTTGAGCTGTGATGTGGTC
587776449	165899	NM_002775.4(HTRA1):c.961G>A (p.Ala321Thr)	HTRA1	Feb 18, 2015	MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354;MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	germline	10	122506874	AACTCAGACATGGACTACATCCAGACCGACGCCATCATCAACGTGAGCCTCTGTCCCTCTG
376787666	423236	NM_012447.3(STAG3):c.1573+5G>A	STAG3	Apr 10, 2017	MedGen:C3810367,OMIM:615723	Premature ovarian failure 8	germline;not applicable	7	100199372	AAGCCTGCTGCTGGAGAAGGACCAGAGTACGTGTCACACGGAGCCAGGGACAGGGACCTTC
771298943	187055	NM_000071.2(CBS):c.1039G>A (p.Gly347Ser)	CBS	Jun 29, 2015	MedGen:C3150344,OMIM:236200;MedGen:CN517202	Homocystinuria due to CBS deficiency;not provided	germline;unknown	21	43062311	ATGCTGATCGCGCAAGAGGGGCTGCTGTGCGGTGAGTGGGTGGCGGGCACGGGGGTATGGG
-1	465177	NM_000138.4(FBN1):c.6038-1G>A	FBN1	Feb 27, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48441847	TGACTTTGTTTGACTCATGTGATTCTTTTAGATATTGATGAGTGTGTCGAAGAGCCAGAAA
67586389	34242	NM_004082.4(DCTN1):c.212G>A (p.Gly71Glu)	DCTN1	Feb 01, 2014	MedGen:C1868594,OMIM:168605,Orphanet:ORPHA178509	Perry syndrome	germline	2	74378067	TTCTGGATGAAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAGTACTTCACTTG
397517989	57591	NM_206933.2(USH2A):c.14180G>A (p.Trp4727Ter)	USH2A	Mar 06, 2012	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215650755	CTGCAGGAAAAGCCCCCAGTAGCTGGACATGGTGCAGAACCGGGCCAGCCCCACCAGAAGG
369414658	433314	NM_000132.3(F8):c.6089G>A (p.Ser2030Asn)	F8	Feb 07, 2017	MedGen:CN169374	not specified	germline	X	154902077	TTATTGGCGAGCATCTACATGCTGGGATGAGCACACTTTTTCTGGTGTACAGCAATAGTGA
794729213	198647	NM_000284.3(PDHA1):c.422G>A (p.Arg141Gln)	PDHA1	Sep 23, 2013	MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243	Pyruvate dehydrogenase E1-alpha deficiency	unknown	X	19353085	CACATGTGTATGTTCTGCCATTTCCAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGG
63750437	95586	NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr)	MLH1	Sep 08, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37000977	TCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC
397508249	67982	NM_000492.3(CFTR):c.165-1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Cystic fibrosis;Hereditary pancreatitis	germline	7	117509033	CTTATTGGTCCCACTTTTTATTCTTTTGCAGAGAATGGGATAGAGAGCTGGCTTCAAAGAA
397514259	75335	NG_001332.2:g.1074699G>A	TRAC	Feb 01, 2011	MedGen:C3809332,OMIM:615387,Orphanet:ORPHA397959	T-cell receptor alpha/beta deficiency	germline	14	22550664	CTCATGACGCTGCGGCTGTGGTCCAGCTGAGGTGAGGGGCCTTGAAGCTGGGAGTGGGGTT
387907084	39997	NM_001083961.1(WDR62):c.193G>A (p.Val65Met)	WDR62	Nov 01, 2010	MedGen:C1858535,OMIM:604317	Primary autosomal recessive microcephaly 2	germline	19	36058795	GCTTTTTCTTTGCAGGTGTCACTCGAGAAGGTGCTTGGCATCACAGCCCAGAACAGCAGTG
397508393	68176	NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117594976	ATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCA
1057518074	359911	NM_001197104.1(KMT2A):c.3464G>A (p.Cys1155Tyr)	KMT2A	Nov 21, 2016	MedGen:CN517202	not provided	germline	11	118478096	CAGTAAAGAAAGGACGTCGATCGAGGCGGTGTGGGCAGTGTCCCGGCTGCCAGGTGCCTGA
1057521930	365927	NM_000090.3(COL3A1):c.1106G>A (p.Gly369Glu)	COL3A1	Dec 19, 2016	MedGen:CN517202	not provided	germline	2	188993416	CTGGTTCAAATGGTGCCCCTGGACAAAGAGGAGAACCTGGACCTCAGGGACACGCTGGTGC
200725073	359143	NM_138773.3(SLC25A46):c.746G>A (p.Gly249Asp)	SLC25A46	Jan 14, 2017	MedGen:C4225302,OMIM:616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	germline	5	110761271	GTGTTAAAGAAGGAATTGGAAGAGTGATAGGCATGGGAGTGCCTCATAGCAAACGACTTCT
587784553	169477	NM_001083961.1(WDR62):c.332+1G>A	WDR62	Dec 18, 2012	MedGen:C1858535,OMIM:604317	Primary autosomal recessive microcephaly 2	germline	19	36060031	CAAGCAGCAGCACATCTTTAACACCGCCAGGTAGGCTGAGGCCTGGGCCCGGGGCAGGGGT
781376927	440913	NM_000426.3(LAMA2):c.5234+1G>A	LAMA2	Mar 30, 2016	MedGen:CN517202	not provided	germline	6	129391654	ACAAAAGGAAATTGCTGAAGATGAGTTGGTGTGAGTAGATGAGTTATTATTTTTTCTTTTG
121912431	29791	NM_000454.4(SOD1):c.112G>A (p.Gly38Arg)	SOD1	Aug 31, 2016	MedGen:C1862939,OMIM:105400;MedGen:C0085084,Orphanet:ORPHA98503,SNOMED CT:37340000	Amyotrophic lateral sclerosis type 1;Motor neuron disease	germline;unknown	21	31663829	GGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATG
794728192	197762	NM_000138.4(FBN1):c.2539+1G>A	FBN1	Jan 12, 2014	MedGen:CN517202	not provided	germline	15	48495468	CTTTGGATCCAACAAAAACCATCTGCATAGGTATTTATCTTTCTGAGAATGATTTTTCTAT
1064793494	407583	NM_000368.4(TSC1):c.107-1G>A	TSC1	Apr 14, 2015	MedGen:CN517202	not provided	germline	9	132927305	AGTATCATCCATTGCCCTTTTCTTGATTTAGACCGTGGCCCTATGCTTGTAAACACCTTGG
797045074	263150	NM_006087.3(TUBB4A):c.1164G>A (p.Met388Ile)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495335	CAAGCGCATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCTTGCACTGGTAC
886039765	260407	NM_021815.4(SLC5A7):c.194G>A (p.Gly65Glu)	SLC5A7	Oct 07, 2016	MedGen:C4310694,OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	germline	2	107992121	TTCATTCTGTTTCAGCTACCTGGGTCGGAGGAGGGTATATCAATGGCACAGCTGAAGCAGT
104886248	36004	NM_000495.4(COL4A5):c.3641G>A (p.Gly1214Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668355	AGGGTGATGGAGGATTACCTGGGATTCCAGGAAATCCTGGCCTTCCAGGTCCAAAGGGCGA
77408163	33279	NM_000477.6(ALB):c.79+1G>A	ALB	Jan 02, 2002	MedGen:C4015776	Analbuminemia baghdad	germline	4	73404407	ATTCCAGGGGTGTGTTTCGTCGAGATGCACGTAAGAAATCCATTTTTCTATTGTTCAACTT
267607090	19837	NM_004863.3(SPTLC2):c.1075G>A (p.Val359Met)	SPTLC2	Oct 08, 2010	MedGen:CN068843	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	germline	14	77555401	ATTGGCGCCCTGGGCCCCACAGGCCGGGGTGTGGTGGAGTACTTTGGCCTGGATCCCGAGG
387907345	51193	NM_001130004.1(ACTN1):c.313G>A (p.Val105Ile)	ACTN1	Nov 12, 2015	MedGen:C3554663,OMIM:615193	Platelet-type bleeding disorder 15	germline;unknown	14	68921033	AAGGCCCTGGATTTCATAGCCAGCAAAGGCGTCAAACTGGTGTCCATCGGAGCCGAAGGTA
879255663	247669	NM_144997.5(FLCN):c.752G>A (p.Trp251Ter)	FLCN	Jul 18, 2016	MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001	Multiple fibrofolliculomas	germline	17	17222528	TGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTA
786204793	187135	NM_004577.3(PSPH):c.103G>A (p.Ala35Thr)	PSPH	Mar 30, 2015	MedGen:C1291463,OMIM:614023,Orphanet:ORPHA79350,SNOMED CT:124432005	Deficiency of phosphoserine phosphatase	germline	7	56021110	GTCATCAGAGAAGAAGGAATCGATGAGCTAGCCAAAATCTGTGGCGTTGAGGACGCGGTGT
104886172	35845	NM_000495.4(COL4A5):c.2297G>A (p.Gly766Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108606794	CTGGGCCACCTGGGCCACCAGGACTTCCAGGTTTCAAAGGAGCACTTGGTCCAAAAGGTGA
118192208	34654	NM_172107.3(KCNQ2):c.807G>A (p.Trp269Ter)	KCNQ2	Jun 22, 2017	MedGen:C1852587,OMIM:121200;MedGen:CN517202	Benign familial neonatal seizures 1;not provided	germline	20	63442415	CCACTTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGGTGAGTTGTGGTCATTGTGGT
1131691703	422488	NM_007075.3(WDR45):c.887G>A (p.Trp296Ter)	WDR45	May 18, 2017	MedGen:CN517202	not provided	germline	X	49075225	CTATGATTGGGCAGTACGTGGACTCTCAGTGGAGCCTGGCGAGCTTCACTGTGCCTGCTGA
587779444	106877	NM_000090.3(COL3A1):c.3417+1G>A (p.Gly1122_Arg1139del+)	COL3A1	Dec 13, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	de novo;germline	2	189007939	ATCGGCAGTCCAGGACCTGCAGGCCCCAGAGTAAGTAGCACAGAAAGATATTACAGGTCCA
397514619	48438	NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp)	ATP2B3	Mar 15, 2017	MedGen:C0796205,OMIM:302500,Orphanet:ORPHA1175;MedGen:CN517202	Spinocerebellar ataxia, X-linked 1;not provided	germline	X	153565081	TCCGCAGGGGCCAGATCCTCTGGTTCCGGGGCCTGAACCGGATTCAGACGCAGGTAAGCCC
137852710	23880	NM_000336.2(SCNN1B):c.1615G>A (p.Glu539Lys)	SCNN1B	Nov 15, 2005	MedGen:C2749757,OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	germline	16	23380493	TGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGT
796052235	204058	NM_001193416.2(DDX3X):c.1463G>A (p.Arg488His)	DDX3X	Jun 30, 2017	MedGen:CN517202	not provided	germline	X	41346376	GGGATAGAGAAGAGGCCCTTCACCAGTTCCGCTCAGGAAAAAGCCCAATTTTAGTGGCTAC
80358053	46185	NM_007294.3(BRCA1):c.5074+1G>A	BRCA1	Mar 19, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43067607	AAGAGACTACTCATGTTGTTATGAAAACAGGTATACCAAGAACCTTTACAGAATACCTTGC
-1	452309	NM_153240.4(NPHP3):c.1985+1G>A	NPHP3	Apr 11, 2017	MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008	Nephronophthisis	germline	3	132699352	GAATGTAGAAACATGCCCTCCAGCATGGAGGTACGATGCCAACTTTAGTTCTTTCAGAGTA
121908840	21572	NM_003722.4(TP63):c.953G>A (p.Arg318His)	TP63	Jan 05, 2018	MedGen:C1858562,OMIM:604292;MedGen:C1785148,OMIM:129400,Orphanet:ORPHA1071,SNOMED CT:7731005;MedGen:CN239305;MedGen:CN517202	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Rapp-Hodgkin ectodermal dysplasia syndrome;TP63-Related Spectrum Disorders;not provided	germline	3	189867903	GTAACAGCAGTTGTGTTGGAGGGATGAACCGCCGTCCAATTTTAATCATTGTTACTCTGGA
121908236	23550	NM_001127221.1(CACNA1A):c.860G>A (p.Cys287Tyr)	CACNA1A	Jun 28, 2005	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Episodic ataxia type 2	germline	19	13359724	CCGCCCGCACCTGCCCCAATGGGACCAAATGTCAGCCCTACTGGGAAGGGCCCAACAACGG
672601369	171772	NM_001244008.1(KIF1A):c.757G>A (p.Glu253Lys)	KIF1A	Apr 27, 2017	MedGen:C3280283,OMIM:614255;MedGen:CN517202	Mental retardation, autosomal dominant 9;not provided	de novo;germline	2	240783780	AAAATCAGCCTGGTGGACCTGGCTGGGAGCGAGCGGGCTGACTCCACGGGAGCCAAGGGCA
1057518735	359050	NM_001204527.1(SSR4):c.441+1G>A	SSR4	Nov 28, 2016	MedGen:C4012395,OMIM:300934,Orphanet:ORPHA370927	Congenital disorder of glycosylation type 1y	germline	X	153798137	CCTCTGTTTACAGTCAGCGTGGACCATCGGGTGAGTGGCCTGGTCCCTCCTCCTTTTTGGG
121909294	23219	NM_007272.2(CTRC):c.164G>A (p.Trp55Ter)	CTRC	Mar 13, 2014	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:C1969419	Hereditary pancreatitis;Pancreatitis, chronic, susceptibility to	germline	1	15440524	TCTCCCTCCAGTACCTCAAGAACGACACGTGGAGGCATACGTGTGGCGGGACTTTGATTGC
62516147	108237	NM_000277.2(PAH):c.1065+1G>A	PAH	Aug 26, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	unknown	12	102844335	GGGCTCCTGTCATCCTTTGGTGAATTACAGGTATGACCTTCACAGGAACCAAGGATAGATT
1057516098	354008	NM_172107.3(KCNQ2):c.868G>A (p.Gly290Ser)	KCNQ2	Nov 10, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 7;not provided	germline	20	63439657	TACGGGGACAAGTACCCCCAGACCTGGAACGGCAGGCTCCTTGCGGCAACCTTCACCCTCA
28935171	26697	NM_004586.2(RPS6KA3):c.2186G>A (p.Arg729Gln)	RPS6KA3	Aug 01, 2016	MedGen:C0265252,OMIM:303600,SNOMED CT:15182000;MedGen:CN517202	Coffin-Lowry syndrome;not provided	germline	X	20155435	AACCAGTAGGCCGCTCTACTCTTGCTCAGCGGAGAGGTATTAAAAAAATCACCTCAACAGC
267606599	15384	NM_000267.3(NF1):c.3113+1G>A	NF1	Apr 01, 1995	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31230383	CCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTT
28941776	18737	NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp)	LDLR	Jun 29, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841;MedGen:CN517202	Familial hypercholesterolemia;Familial hypercholesterolemias;not provided	germline;not applicable;unknown	19	11116153	CCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAA
886039247	259334	NM_001242896.1(DEPDC5):c.435G>A (p.Trp145Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31778120	TTCTTTCAGAGCACAGGCTGGTGAACTGTGGGTTAAGAATGAGAAGGTCATGTGTGGCTAC
60090257	77279	NM_000526.4(KRT14):c.915G>A (p.Trp305Ter)	KRT14	Sep 07, 2015	MedGen:CN517202	not provided	germline	17	41583772	AGAGAAGAACCGCAAGGATGCCGAGGAATGGTTCTTCACCAAGGTGGGTGTCATTTGAGGT
879254717	245851	NM_000527.4(LDLR):c.914G>A (p.Trp305Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107488	TCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGA
879254721	245861	NM_000527.4(LDLR):c.922G>A (p.Glu308Lys)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107496	ATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGT
-1	482126	NM_000267.3(NF1):c.5793G>A (p.Trp1931Ter)	NF1	Oct 02, 2017	MedGen:CN517202	not provided	germline	17	31334881	ACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCAT
879254866	246103	NM_000527.4(LDLR):c.1328G>A (p.Trp443Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113419	ACACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAG
121918727	27534	NM_000359.2(TGM1):c.857G>A (p.Arg286Gln)	TGM1	Dec 10, 2015	MedGen:C3536797,OMIM:242300;MedGen:CN517202	Autosomal recessive congenital ichthyosis 1;not provided	germline	14	24259959	ACTACGGGACCGAAGCACAGATTGGTGAGCGGACCTGGAACTACGGCCAGGTATGGTGCGG
121917918	79420	NM_006920.4(SCN1A):c.302G>A (p.Arg101Gln)	SCN1A	Mar 28, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	germline;inherited;unknown	2	166058651	TAGTATTGAATAAAGGGAAGGCCATCTTCCGGTTCAGTGCCACCTCTGCCCTGTACATTTT
121908138	19454	NM_020919.3(ALS2):c.470G>A (p.Cys157Tyr)	ALS2	Feb 10, 2011	MedGen:C1846588,OMIM:607225	Infantile-onset ascending hereditary spastic paralysis	germline	2	201761524	TGTTAGCAGTCAGGATTTTACAGTTGGCGTGTGGCGAGGAGCACACTCTGGCATTGTCAAT
-1	432192	NM_000444.5(PHEX):c.2078G>A (p.Cys693Tyr)	PHEX	Oct 31, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline;paternal	X	22245340	GTTGGGATGCTTTTCTCTTCTAGGTGAGGTGCAATTCCTACAGACCAGAAGCTGCCCGAGA
886044750	237652	NM_000350.2(ABCA4):c.5312+1G>A	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200	Stargardt disease 1	germline;unknown	1	94015738	TGCCCTTGTGGCACTGCTCCTGCTGTATGGGTAAGCCGTTTGGGCCATTAGCTAATGCCTC
587781655	151033	NM_032043.2(BRIP1):c.918+1G>A	BRIP1	Sep 08, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C1836860,OMIM:609054;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided	germline	17	61808466	AAGTGCATGGAATTGCTAGATGGGAAAAACGTGAGTAAAGTTATTTTGTGTTAGAGAAAAA
1085308061	417344	NM_020964.2(EPG5):c.4007G>A (p.Gly1336Glu)	EPG5	Jun 03, 2017	MedGen:C1855772,OMIM:242840,Orphanet:ORPHA1493	Absent corpus callosum cataract immunodeficiency	germline	18	45910719	TTTTAAGGTTACCCATAGATGGTTGTATTGGAAGAAGGTTTTTTCAAAGTCCTGCTCATAT
1131691061	420754	NM_003000.2(SDHB):c.3G>A (p.Met1Ile)	SDHB	Aug 24, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310	Hereditary cancer-predisposing syndrome;Paragangliomas 4	germline	1	17054017	AGGGGTGGGGCTGACGTCAGGAGCCAAGATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGC
145955590	187685	NM_000751.2(CHRND):c.1204G>A (p.Glu402Lys)	CHRND	Oct 01, 2006	MedGen:C4225370,OMIM:616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	germline	2	232534087	CTGCTCAAGTCCCGCAGTGACCTCATGTTCGAGAAGCAGTCAGAGCGGCATGGGCTGGCCA
527236033	152915	NM_030665.3(RAI1):c.2273G>A (p.Trp758Ter)	RAI1	-	MedGen:C0795864,OMIM:182290,Orphanet:ORPHA819,SNOMED CT:401315004	Smith-Magenis syndrome	de novo	17	17795221	AGGAAAACCTGGGGGATGCTTGTCCCAGGTGGGGATTGCACCCTGGCGAGCTTACCAAGGG
796052065	200597	NM_000030.2(AGXT):c.1045G>A (p.Gly349Ser)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878124	GTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGA
121908626	21066	NM_001190383.1(GNE):c.1669G>A (p.Ala557Thr)	GNE	Sep 01, 2001	MedGen:C1853926,OMIM:605820	Nonaka myopathy	germline	9	36218225	GCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCA
121908032	18742	NM_000527.4(LDLR):c.2439G>A (p.Trp813Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11129562	CCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTT
397514639	48592	NM_022369.3(STRA6):c.1964G>A (p.Arg655His)	STRA6	Dec 08, 2015	MedGen:C1832661,OMIM:601186,Orphanet:ORPHA2470;na;MedGen:CN517202	Microphthalmia syndromic 9;STRA6-Related Disorder;not provided	germline;maternal	15	74180120	TGCTGCACAACCCAACCCTGCAGGTCTTCCGCAAGACGGCCCTGTTGGGTGCCAATGGTGC
267608474	187593	NM_003159.2(CDKL5):c.404-1G>A	CDKL5	Mar 13, 2014	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	unknown	X	18581890	TACTAATTTTTTTTTTATCTTGACACTCCAGATATAAAACCAGAAAATCTCTTAATCAGCC
-1	433658	NM_194456.1(KRIT1):c.1890G>A (p.Trp630Ter)	KRIT1	Jun 27, 2017	MedGen:C1861784,OMIM:116860;MedGen:CN169374	Cerebral cavernous malformation;not specified	germline	7	92213330	CCTTCAGCGCATGTTCTTACAGAATTGCTGGGAAATTCCTACTTATGGAGCAGCATTTTTC
864622197	222146	NM_000256.3(MYBPC3):c.906-36G>A	MYBPC3	Apr 28, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Hypertrophic cardiomyopathy	germline	11	47347065	TTCTCTCTGCCCTCTCTCTCCCTCTCCCCCGGCCCCTCCATTATGGCTGCTGCTGCTGTGG
387906852	39266	NM_005902.3(SMAD3):c.836G>A (p.Arg279Lys)	SMAD3	Sep 02, 2011	MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984	Loeys-Dietz syndrome 3	germline	15	67181418	TCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAATGCAGCAGTGGAGCTGACACGGAGACA
121965019	26947	NM_000203.4(IDUA):c.1205G>A (p.Trp402Ter)	IDUA	Jul 14, 2017	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473;Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473;MedGen:C0023786,Orphanet:ORPHA579;MedGen:C0086431,OMIM:607015,Orphanet:ORPHA93476,SNOMED CT:26745009;MedGen:C0026708,OMIM:607016,Orphanet:ORPHA93474,SNOMED CT:73123008;MedGen:CN517202	Hurler syndrome;Hurler syndrome;Mucopolysaccharidosis type I;Mucopolysaccharidosis, MPS-I-H/S;Mucopolysaccharidosis, MPS-I-S;not provided	germline;unknown	4	1002747	CCCCCCGCCCCGCAGATGAGGAGCAGCTCTGGGCCGAAGTGTCGCAGGCCGGGACCGTCCT
786205902	190097	NM_004736.3(XPR1):c.407G>A (p.Ser136Asn)	XPR1	Jun 01, 2015	MedGen:C4225335,OMIM:616413	Basal ganglia calcification, idiopathic, 6	germline	1	180803571	GAAATATTAAAGACCTTAAACTGGCCTTCAGTGAGTTCTACCTCAGTCTAATCCTGCTGCA
121909790	22784	NM_001017535.1(VDR):c.98G>A (p.Gly33Asp)	VDR	Dec 23, 1988	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47879016	TCTGTGGGGTGTGTGGAGACCGAGCCACTGGCTTTCACTTCAATGCTATGACCTGTGAAGG
74315440	31997	NM_000394.3(CRYAA):c.27G>A (p.Trp9Ter)	CRYAA	Oct 01, 2000	MedGen:C4015984	Cataract 9, autosomal recessive	germline	21	43169126	GAACATGGACGTGACCATCCAGCACCCCTGGTTCAAGCGCACCCTGGGGCCCTTCTACCCC
72657696	427087	NM_001171.5(ABCC6):c.182G>A (p.Gly61Asp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16221686	ACCTCCTCTTCATCCACCACCATGGCCGGGGCTACCTCCGGATGTCCCCACTCTTCAAAGC
140108514	100191	NM_003494.3(DYSF):c.2643+1G>A	DYSF	Jul 29, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2B;Limb-girdle muscular dystrophy, type 2B;Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;not provided	germline;unknown	2	71568083	GAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTC
113602180	374193	NM_000138.4(FBN1):c.2810G>A (p.Cys937Tyr)	FBN1	Mar 14, 2017	MedGen:CN517202	not provided	germline	15	48492505	TTAACACTAGGGGGTCATTCAAGTGTCAGTGTCCCAGTGGAATGACTTTGGATGCCACAGG
762307622	232266	NM_001128425.1(MUTYH):c.467G>A (p.Trp156Ter)	MUTYH	Apr 21, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline;unknown	1	45332955	CTCTTTCTGCCTGCCTGTGGCTATAGAAGTGGCCTACACTGCAGGACCTGGCCAGTGCTTC
797044872	205316	NM_004977.2(KCNC3):c.1268G>A (p.Arg423His)	KCNC3	Feb 09, 2017	MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Inborn genetic diseases;not provided	germline	19	50323685	TGCGGGTGGTCCGCTTCGTCCGCATCCTGCGCATCTTCAAGCTGACCCGGCACTTCGTGGG
267606702	15321	NM_001159772.1(CANT1):c.374G>A (p.Trp125Ter)	CANT1	Nov 01, 2009	MedGen:C4012146,OMIM:251450	Desbuquois dysplasia 1	germline	17	78997249	CAGAGTCAAGGGCCCAAGAGGAAAACACCTGGTTCAGTTACCTGAAAAAGGGCTACCTGAC
373910016	181391	NM_002335.3(LRP5):c.1360G>A (p.Val454Met)	LRP5	Feb 21, 2018	Human Phenotype Ontology:HP:0006557,MedGen:C0158683,OMIM:174050,SNOMED CT:72925005;MedGen:CN818987,OMIM:617875	Congenital cystic disease of liver;POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS	germline	11	68386660	CGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCA
875989933	246384	NM_000527.4(LDLR):c.1860G>A (p.Trp620Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120106	CTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGT
121913627	29130	NM_000257.3(MYH7):c.1816G>A (p.Val606Met)	MYH7	Jun 15, 2017	MedGen:CN230736;MedGen:C3495498,OMIM:192600;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23427657	AAGAACAAGGATCCTCTCAATGAGACTGTCGTGGGCTTGTATCAGAAGTCTTCCCTCAAGC
863224956	213828	NM_000070.2(CAPN3):c.1343G>A (p.Arg448His)	CAPN3	Sep 18, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42399641	GGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATG
281865552	103178	NM_000531.5(OTC):c.663G>A (p.Lys221=)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403740	CGGAATGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAACTTTTTGCCTTGAAACTAACC
606231444	170970	NM_152296.4(ATP1A3):c.2780G>A (p.Cys927Tyr)	ATP1A3	May 04, 2014	MedGen:C3553788,OMIM:614820	Alternating hemiplegia of childhood 2	de novo	19	41968824	TTGTCGTCCAGTGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCA
199476198	47854	NM_207352.3(CYP4V2):c.1020G>A (p.Trp340Ter)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186205232	GCACGATACAACTGCAGCTGCAATAAACTGGTCCTTATACCTGTTGGGTTCTAACCCAGAA
1114167650	416969	NM_000314.6(PTEN):c.209+5G>A	PTEN	May 26, 2017	MedGen:CN072330,OMIM:158350;MedGen:C0027672,SNOMED CT:699346009	Cowden syndrome 1;Hereditary cancer-predisposing syndrome	germline	10	87925562	AAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTCTTATTTGTATGCTTGCAAATA
879254688	245808	NM_000527.4(LDLR):c.818-1G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107391	CCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCA
121908081	19098	NM_012213.2(MLYCD):c.8G>A (p.Gly3Asp)	MLYCD	Oct 01, 2003	MedGen:C0342793,OMIM:248360,Orphanet:ORPHA943,SNOMED CT:124594007,SNOMED CT:361203007	Deficiency of malonyl-CoA decarboxylase	germline	16	83899152	CTCGGCAGCTGTTGTGGGGCACCATGCGAGGCTTCGGGCCAGGCTTGACGGCCAGGCGTCT
386134142	32598	NM_000096.3(CP):c.3019-1G>A	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004;MedGen:C1858583	Deficiency of ferroxidase;Hemosiderosis, systemic, due to aceruloplasminemia	germline	3	149176413	TTATACATTATTTGTCATTTTTCTAATTAAGCACAGGGGAGTTTATAGTTCTGATGTCTTT
137853339	24170	NM_145649.4(GCNT2):c.505G>A (p.Ala169Thr)	GCNT2	Mar 15, 2003	MedGen:C1292164	ADULT i BLOOD GROUP PHENOTYPE	germline	6	10529416	GTTGTCTATGGGGGGATCTCCAGGCTCCAGGCTGACCTGAACTGCCTGGAAGACCTTGTGG
797044990	204982	NM_020762.3(SRGAP1):c.823G>A (p.Ala275Thr)	SRGAP1	May 01, 2013	Human Phenotype Ontology:HP:0006731,MedGen:C0206682,OMIM:188470	Thyroid cancer, follicular	germline	12	64062938	CTTTTTAAGTGCTGTGATCTTGGCTACCATGCAAGTCTGAACAGAGCCCTAAGAACATATC
778222701	420012	NM_004928.2(C21orf2):c.545+1G>A	C21orf2	Jun 23, 2017	MedGen:C1865695,OMIM:602271,Orphanet:ORPHA168549	Spondylometaphyseal dysplasia axial	germline	21	44331842	GGACCCGCTGGACAGCGAGGAGGAGGCAACGTGAGGCTGGAGGGCAGCGGGGACTCCGCAG
144701072	77001	NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg)	ATP13A2	Feb 01, 2011	MedGen:C1847640,OMIM:606693,Orphanet:ORPHA306674	Parkinson disease 9	germline	1	16988455	CCTCTCTTCAGGTACTGCGTGGGCATGTGCGGAGACGGCGCCAATGACTGTGGGGCCCTGA
121917960	79427	NM_006920.4(SCN1A):c.3970G>A (p.Val1324Met)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo;unknown	2	166002753	GACTTTTCTTTTTTTCCATTTGTGTATTAGGTGGTTGTGAATGCCCTTTTAGGAGCAATTC
1064793814	405441	NM_001256850.1(TTN):c.81440G>A (p.Trp27147Ter)	TTN	Apr 28, 2016	MedGen:CN517202	not provided	germline	2	178559769	TCCGAGGAAGACCAGTACCCAATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAG
587783483	169243	NM_004380.2(CREBBP):c.3779+1G>A	CREBBP	Feb 08, 2017	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004;MedGen:CN517202	Rubinstein-Taybi syndrome;not provided	de novo;germline	16	3751725	CCTGGGTGACGACCCTTCACAGCCCCAGACGTAAGTACCGTCCTGTCATTTTCTCTGGGGT
369560930	98197	NM_000018.3(ACADVL):c.520G>A (p.Val174Met)	ACADVL	Sep 26, 2017	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202	Very long chain acyl-CoA dehydrogenase deficiency;not provided	germline;unknown	17	7221580	GTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCA
80358099	70167	NM_007294.3(BRCA1):c.5278-1G>A	BRCA1	May 04, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43051118	CCTGTCCCTCTCTCTTCCTCTCTTCTTCCAGATCTTCAGGGGGCTAGAAATCTGTTGCTAT
766542823	421944	NM_015665.5(AAAS):c.885G>A (p.Trp295Ter)	AAAS	Sep 21, 2015	MedGen:CN517202	not provided	germline	12	53309207	CCGAGGAGGTGGGGTGACCAACCTGCTCTGGTCCCCAGACGGCAGCAAAATCCTGGCTACC
113994105	32458	NM_001845.5(COL4A1):c.1555G>A (p.Gly519Arg)	COL4A1	Mar 08, 2011	MedGen:C2673195,OMIM:611773,Orphanet:ORPHA73229	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	germline	13	110187311	TTGTTCTTACAGGGCCCTCAAGGTACACCAGGGCTGATAGGCCAGCCAGGAGCCAAGGGGG
121912738	32839	NM_001681.3(ATP2A2):c.392G>A (p.Arg131Gln)	ATP2A2	Jun 01, 2002	MedGen:C0022595,OMIM:124200,Orphanet:ORPHA218,SNOMED CT:48611009	Keratosis follicularis	germline	12	110296666	AATATGAGCCTGAAATGGGCAAAGTGTATCGACAGGACAGAAAGAGTGTGCAGCGGATTAA
121918698	27598	NM_001252634.1(THRB):c.1313G>A (p.Arg438His)	THRB	Jan 20, 2012	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24122957	TGCGGATGATAGGAGCCTGCCATGCCAGCCGCTTCCTGCACATGAAGGTGGAATGCCCCAC
28933396	28005	NM_000540.2(RYR1):c.7304G>A (p.Arg2435His)	RYR1	Feb 21, 1997	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	germline;unknown	19	38499997	TCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTG
151344522	46954	NM_006796.2(AFG3L2):c.2098G>A (p.Glu700Lys)	AFG3L2	May 17, 2011	MedGen:C1853249,OMIM:610246,Orphanet:ORPHA101109	Spinocerebellar ataxia 28	not provided	18	12337418	AGTGAAGCCACTGCAAGATTGATAGATGATGAAGTACGAATACTTATTAATGATGCTTATA
121907952	18931	NM_000520.5(HEXA):c.1444G>A (p.Glu482Lys)	HEXA	Feb 10, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline;unknown	15	72345528	TCCTCCAGGCCCAGAGCAGGGGCTGTTGCCGAAAGGCTGTGGAGCAACAAGTTGACATCTG
587779692	107199	NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188994297	ATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTG
137854576	15852	NM_000038.5(APC):c.470G>A (p.Trp157Ter)	APC	Oct 20, 2016	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112775676	ATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAA
397516896	53980	NM_004333.4(BRAF):c.1780G>A (p.Asp594Asn)	BRAF	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680	Adenocarcinoma of lung;Adrenocortical carcinoma;Chronic lymphocytic leukemia;Colorectal Neoplasms;Malignant melanoma;Malignant melanoma of skin;Multiple myeloma;Neoplasm of brain;Non-small cell lung cancer;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder	somatic	7	140753355	CTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGAT
1131691575	414709	NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn)	POLG	May 16, 2017	MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN517202	Mitochondrial diseases;not provided	germline	15	89317469	CCCCAGTCAGTCGCCTTTTTCAGTGCAGTCGATATTGACCGGTGCCTCAGGAAGGAAGTGA
193922868	136809	NM_000540.2(RYR1):c.14210G>A (p.Arg4737Gln)	RYR1	Jun 06, 2017	MedGen:CN517202	not provided	germline;unknown	19	38577955	ACAAACATGGGGACATCTACGGGCGGGAGCGGATTGCTGAGCTACTGGGCATGGACCTGGC
137852307	25516	NM_000032.4(ALAS2):c.1184G>A (p.Cys395Tyr)	ALAS2	Sep 21, 2005	MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED CT:62677000	Hereditary sideroblastic anemia	germline	X	55015000	CCTTTCTGTCTCCAGGCAAGGCCTTTGGCTGTGTGGGCGGCTACATTGCCAGCACCCGTGA
104894756	25888	NM_000054.4(AVPR2):c.410G>A (p.Arg137His)	AVPR2	May 05, 2005	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153905916	CCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGC
28929474	33006	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SERPINA1	Jul 05, 2017	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007;MedGen:C0751157,OMIM:309548,SNOMED CT:254288000;na;na;na;MedGen:CN517202	Alpha-1-antitrypsin deficiency;FRAXE;PI Z;PI Z(AUGSBURG);PI Z(TUN);not provided	germline;paternal;unknown	14	94378610	GCCGTGCATAAGGCTGTGCTGACCATCGACGAGAAAGGGACTGAAGCTGCTGGGGCCATGT
587776930	48222	NM_001396.3(DYRK1A):c.1098+1G>A	DYRK1A	Feb 06, 2013	MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306	Mental retardation, autosomal dominant 7	germline	21	37493164	GGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAAATGATGTATTGCTTTACAAATTCTGTT
66512766	103234	NM_000531.5(OTC):c.867+1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38409026	GCTTTCCAAGGTTACCAGGTTACAATGAAGGTACAAATTGATGCCTCTCTGAAGGTTCATT
387906820	39172	NM_005257.5(GATA6):c.1399G>A (p.Ala467Thr)	GATA6	Dec 11, 2011	MedGen:C1838780,OMIM:600001	Pancreatic agenesis and congenital heart disease	germline	18	22181549	AGAAACGCCGAGGGTGAACCCGTGTGCAATGCTTGTGGACTCTACATGAAACTCCATGGGG
121912796	32593	NM_001822.5(CHN1):c.682G>A (p.Gly228Ser)	CHN1	Aug 08, 2008	MedGen:C0751083,OMIM:604356	Duane syndrome type 2	germline	2	174824464	TGGTGTGAATACTGTGCCAACTTTATGTGGGGTCTCATTGCTCAGGGAGTGAAATGTGCAG
762081862	205374	NM_001244189.1(KIAA0586):c.1815G>A (p.Gln605=)	KIAA0586	Aug 06, 2015	MedGen:C4225286,OMIM:616546	Short-rib thoracic dysplasia 14 with polydactyly	germline	14	58458545	ATGGATTAAAACTATTTCTGCAGAAATTCAGGTATGTCTTGGAAAAAAACTGAAAATTAAG
121434548	32661	NM_000070.2(CAPN3):c.1469G>A (p.Arg490Gln)	CAPN3;POMT1	Jun 14, 2016	MedGen:CN239245;MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	CAPN3-Related Disorders;Limb-girdle muscular dystrophy, type 2A	germline	15	42401755	TCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTT
794728029	197392	NM_001613.2(ACTA2):c.809G>A (p.Gly270Glu)	ACTA2	Aug 27, 2014	MedGen:CN517202	not provided	germline	10	88938242	TAAGGACCATGGCCTGTGTCTCTTTTCCAGGGATGGAGTCTGCTGGCATCCATGAAACCAC
267607163	22003	NM_006086.3(TUBB3):c.904G>A (p.Ala302Thr)	TUBB3	Aug 15, 2017	MedGen:C2748801,OMIM:600638;MedGen:CN517202	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;not provided	germline	16	89935355	CAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGA
587778810	76807	NM_000784.3(CYP27A1):c.779G>A (p.Trp260Ter)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218812684	ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCG
1060501048	400634	NM_000138.4(FBN1):c.6164-1G>A	FBN1	Jun 17, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48437918	AACTGAAGGGTGTCATAAATTTATGCTGCAGATTTGCGAATGAGCTACTGTTATGCGAAGT
-1	442168	NM_000435.2(NOTCH3):c.437G>A (p.Cys146Tyr)	NOTCH3	Mar 05, 2015	MedGen:CN517202	not provided	germline	19	15192202	TGGGGCCCGATGGACGCTTCCTCTGCTCCTGCCCACCTGGCTACCAGGGCCGCAGCTGCCG
879253954	245013	NM_000304.3(PMP22):c.449G>A (p.Gly150Asp)	PMP22	Jan 04, 2017	MedGen:CN517202	not provided	germline	17	15230951	GGGTGGCCTTCCCCCTGGCCCTTCTCAGCGGTGTCATCTATGTGATCTTGCGGAAACGCGA
794728746	196622	NM_001035.2(RYR2):c.6916G>A (p.Val2306Ile)	RYR2	Mar 13, 2016	MedGen:C1631597,Orphanet:ORPHA3286	Catecholaminergic polymorphic ventricular tachycardia	germline	1	237638480	GAGAGATATCTTGACTTTCTTAGATTTGCTGTCTTCTGTAATGGTAGGACTTGATTTCTTG
397515462	76940	NM_003850.2(SUCLA2):c.751G>A (p.Asp251Asn)	SUCLA2	Aug 01, 2013	MedGen:C2749864,OMIM:612073,Orphanet:ORPHA1933	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	germline	13	47968646	GTCAAGCTTTACAGCCTTTTTCTGAAATACGATGCAACCATGATAGAAATAAATCCAATGG
-1	442156	NM_000435.2(NOTCH3):c.671G>A (p.Cys224Tyr)	NOTCH3	Jul 09, 2014	MedGen:CN517202	not provided	germline	19	15191968	AGAGTGGCGACCTCACTTACGACTGTGCCTGTCTTCCTGGTGAGTGAGCCCTACTCAGGAG
200669099	240612	NM_012144.3(DNAI1):c.1644G>A (p.Trp548Ter)	DNAI1	Mar 05, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	9	34514468	CCACAACATGTCAGTGGACACTGTGTCCTGGAACCCATACCACACCAAGGTCTTCATGTCC
886041383	264917	NM_001848.2(COL6A1):c.842G>A (p.Gly281Glu)	COL6A1	Jul 27, 2016	MedGen:CN517202	not provided	germline	21	45989121	GAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACT
764260414	359016	NM_006412.3(AGPAT2):c.299G>A (p.Ser100Asn)	AGPAT2	Dec 08, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136677440	GTCCCTGTGTCATCGTCTCCAACCACCAGAGCATCCTGGACATGATGGGTAGGCCGGGCCT
397515447	65581	NM_005006.6(NDUFS1):c.1855G>A (p.Asp619Asn)	NDUFS1	Jul 01, 2010	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	2	206127826	GCAGTGACACCTCCTGGCTTGGCAAGAGAAGACTGGAAAATTATAAGAGCACTCTCTGAGG
137852706	23871	NM_000336.2(SCNN1B):c.109G>A (p.Gly37Ser)	SCNN1B	Mar 03, 1997	MedGen:C1449843,OMIM:264350,Orphanet:ORPHA171876	Pseudohypoaldosteronism type 1 autosomal recessive	germline	16	23348708	GTGTGGTACTGCGACAACACCAACACCCACGGCCCCAAGCGCATCATCTGTGAGGGGCCCA
1085308040	416953	NM_000314.6(PTEN):c.1004G>A (p.Arg335Gln)	PTEN	Mar 01, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	PTEN hamartoma tumor syndrome	paternal	10	87961096	TTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTTCTCCAAATTTTAAGGTCAGTTA
121913664	29043	NM_020529.2(NFKBIA):c.32G>A (p.Trp11Ter)	NFKBIA	Oct 01, 2007	MedGen:C2677481,OMIM:612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	germline	14	35404613	TGTTCCAGGCGGCCGAGCGCCCCCAGGAGTGGGCCATGGAGGGCCCCCGCGACGGGCTGAA
786205099	31944	NM_000941.2(POR):c.731+1G>A	POR	Mar 01, 2004	MedGen:C1860042,OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	germline	7	75981607	TGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGG
886041277	264226	NM_003060.3(SLC22A5):c.395G>A (p.Trp132Ter)	SLC22A5	Oct 27, 2017	MedGen:CN517202	not provided	germline	5	132378379	ATGATACACCCCCTTTGCTCATCTTGCAGTGGAACCTGGTGTGTGAGGACGACTGGAAGGC
1057518666	361277	NM_001854.3(COL11A1):c.2754+5G>A	COL11A1	Mar 30, 2017	MedGen:C1858084,OMIM:604841,Orphanet:ORPHA90654;MedGen:CN517202	Stickler syndrome, type 2;not provided	germline	1	102978703	GCCCTCCTGGCCCTCCAGGTGAAAGAGTACGTATGATACAGCCACATAATATAAAATGAAA
121909180	22709	NM_000453.2(SLC5A5):c.1183G>A (p.Gly395Arg)	SLC5A5	Sep 01, 1999	MedGen:C1848805,OMIM:274400	Thyroid dyshormonogenesis 1	germline	19	17882160	CCATCCTCATCCACTACAGCACTCATCTACGGATCGGCCTGTCTCACCGTGGCAGCCCTGT
-1	482227	NM_001184880.1(PCDH19):c.2147+1G>A	PCDH19	Nov 08, 2017	MedGen:CN517202	not provided	germline	X	100406450	CAACAAAGAGATCCGGACCTACAACTGCAGGTAAAGCCAAGTTTTCTTTCTTTGTCTTGGA
121909196	22974	NM_000503.5(EYA1):c.1319G>A (p.Arg440Gln)	EYA1	May 19, 2011	MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Melnick-Fraser syndrome	germline	8	71216733	GGATGAGAAAGTTGGCCTTCCGCTACAGACGGGTAAAAGAGATCTACAACACCTACAAAAA
387907016	39754	NM_001199799.1(ILDR1):c.3G>A (p.Met1Ile)	ILDR1	Feb 11, 2011	MedGen:C1864818,OMIM:609646	Deafness, autosomal recessive 42	germline	3	122022075	AGCTGAAAAGGGCCAGAAAGGGGGCGGCATGGCATGGCCCAAACTGCCCGCACCTTGGCTG
111033556	32521	NM_000493.3(COL10A1):c.1832G>A (p.Trp611Ter)	COL10A1	Feb 01, 2003	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116120284	ACCACGTGCATGTGAAAGGGACTCATGTTTGGGTAGGCCTGTATAAGAATGGCACCCCTGT
104894829	25755	NM_000169.2(GLA):c.131G>A (p.Trp44Ter)	GLA	Nov 01, 1990	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101407773	ATGGATTGGCAAGGACGCCTACCATGGGCTGGCTGCACTGGGAGCGCTTCATGTGCAACCT
1085307454	415571	NM_000088.3(COL1A1):c.1076G>A (p.Gly359Glu)	COL1A1	May 03, 2017	MedGen:CN517202	not provided	germline	17	50195646	TTCTGATTCAGGGTGAAGCTGGTCCCCAAGGGCCCCGAGGCTCTGAAGGTCCCCAGGGTGT
111422676	223822	NM_000169.2(GLA):c.1088G>A (p.Arg363His)	GLA	Jul 05, 2017	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398011	TGATAAACCGGCAGGAGATTGGTGGACCTCGCTCTTATACCATCGCAGTTGCTTCCCTGGG
104893787	28074	NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	RHO	May 15, 1994	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129529062	ATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGG
137854477	31492	NM_000138.4(FBN1):c.2954G>A (p.Gly985Glu)	FBN1	Sep 01, 1999	MedGen:C4016055	Marfan syndrome, atypical	germline	15	48489979	ACCGCATGGACGCCTGCTGCTGCTCCGTCGGGGCAGCCTGGGGTACTGAGGAATGCGAGGA
587777168	106653	NM_012414.3(RAB3GAP2):c.1434G>A (p.Trp478Ter)	RAB3GAP2	May 01, 2013	MedGen:C3280214,OMIM:614225	Warburg micro syndrome 2	germline	1	220191121	TGCGCCAAGAAGGGGAATTTTAGAAGTGTGGAGCACACAGCAGGGACCTAGAGTAGGAGCT
878852996	236957	NM_001080463.1(DYNC2H1):c.11671-1G>A	DYNC2H1	Mar 13, 2015	MedGen:CN517202	not provided	germline	11	103316544	TTGTTTACTTAAAAAAATTGTTTTTTGACAGGGTTGGACAAAGTTTTATGAATTTTCTTTA
80359803	67339	NM_000059.3(BRCA2):c.8754G>A (p.Glu2918=)	BRCA2	Jul 13, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32376791	GAAGAATGCAGCAGACCCAGCTTACCTTGAGGTGAGAGAGTAAGAGGACATATAATGAGGC
1057518754	359189	NM_024854.4(PYROXD1):c.414+1G>A	PYROXD1	Dec 19, 2016	MedGen:C4310645,OMIM:617258	Myopathy, myofibrillar, 8	germline	12	21449692	TTAGGAATCCGTGATACAGACAGTGCTCAGGTAACATTTTAAGGTTGGATCGTGAGAAGGA
62642573	105145	NM_000350.2(ABCA4):c.4195G>A (p.Glu1399Lys)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94031054	ATGCTTTCTATTGTTATCCCTCCTTTTGGCGAATACCCCGCTTTGACCCTTCACCCCTGGA
121909661	31287	NM_000145.3(FSHR):c.1255G>A (p.Ala419Thr)	FSHR	Mar 01, 2002	MedGen:C0949595,OMIM:233300	Ovarian dysgenesis 1	germline	2	48963566	CTCTGCATTGGAATCTACCTGCTGCTCATTGCATCAGTTGATATCCATACCAAGAGCCAAT
267606631	33361	NM_001614.3(ACTG1):c.721G>A (p.Glu241Lys)	ACTG1	Jul 23, 2013	MedGen:C1858172,OMIM:604717;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, autosomal dominant 20;Nonsyndromic hearing loss and deafness;not provided	germline	17	81511269	GCATCCTCCTCTTCTCTGGAGAAGAGCTACGAGCTGCCCGATGGCCAGGTCATCACCATTG
587777180	106803	NM_006767.3(LZTR1):c.1397G>A (p.Arg466Gln)	LZTR1	Mar 04, 2014	MedGen:C3810283,OMIM:615670	Schwannomatosis 2	unknown	22	20993967	TGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCA
367543268	36663	NM_000155.3(GALT):c.1060-1G>A	GALT	Aug 24, 2015	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34650368	CCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAG
111033190	53933	NM_004004.5(GJB2):c.95G>A (p.Arg32His)	GJB2	Aug 03, 2016	MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness	germline;unknown	13	20189487	AGATCTGGCTCACCGTCCTCTTCATTTTTCGCATTATGATCCTCGTTGTGGCTGCAAAGGA
104894355	28526	NM_000217.2(KCNA1):c.1210G>A (p.Val404Ile)	KCNA1	Oct 01, 2000	MedGen:C1719788,OMIM:160120,Orphanet:ORPHA37612,SNOMED CT:421182009	Episodic ataxia type 1	germline	12	4912588	ATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATT
587777821	19026	NM_017739.3(POMGNT1):c.1413+1G>A	POMGNT1	Oct 01, 2004	na	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3	germline	1	46192307	CTTGAGCCCAAGTGGCCTACACCGGAAAAGGTAACTGTCAGGGTAGGGTGAGGGGGCTGGA
1085307274	414216	NM_001204.6(BMPR2):c.932G>A (p.Gly311Glu)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202520166	CTTGCCGTCTTGCTCATTCTGTTACTAGAGGACTGGCTTATCTTCACACAGAATTACCACG
886040734	261439	NM_000059.3(BRCA2):c.7887G>A (p.Trp2629Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32362604	GGTTTATAATCACTATAGATGGATCATATGGAAACTGGCAGCTATGGAATGTGCCTTTCCT
754201976	265114	NM_000044.4(AR):c.1847G>A (p.Arg616His)	AR	Aug 05, 2017	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:CN517202	Androgen resistance syndrome;not provided	germline	X	67686088	AATTCCGAAGGAAAAATTGTCCATCTTGTCGTCTTCGGAAATGTTATGAAGCAGGGATGAC
121913112	31393	NM_000142.4(FGFR3):c.1537G>A (p.Asp513Asn)	FGFR3	Apr 01, 2006	MedGen:C0265269,OMIM:149730,SNOMED CT:23817003	Levy-Hollister syndrome	germline	4	1805561	TGACACAGGCCCCCCGCTCCGTGCACAGACGATGCCACTGACAAGGACCTGTCGGACCTGG
121965015	15288	NM_000398.6(CYB5R3):c.611G>A (p.Cys204Tyr)	CYB5R3	May 01, 2008	MedGen:C2749559	Methemoglobinemia, type I	germline	22	42627326	TCATGAAGGACCCTGATGACCACACTGTGTGCCACCTGCTCTTTGCCAACCAGGTCAGTGG
-1	214857	NM_016218.3(POLK):c.1345G>A (p.Glu449Lys)	POLK	Aug 14, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75590429	TGCAGTGAGCTTGCTCAGGATCTACAGAAAGAAAGACTTAAGGTGCTTTATTTTGATATGG
387907324	38636	NM_000782.4(CYP24A1):c.964G>A (p.Glu322Lys)	CYP24A1	Nov 09, 2011	MedGen:C0268080,OMIM:143880,SNOMED CT:34225008	Idiopathic hypercalcemia of infancy	germline	20	54162743	TCAAAGAAAGAATTGTATGCTGCTGTCACAGAGCTCCAGCTGGCTGCGGTGGAAACGGTAA
386134133	51221	NM_000096.3(CP):c.2962G>A (p.Gly988Ser)	CP	Nov 05, 2015	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	germline	3	149177896	GATGAAGTCAACTGGTATCTGATGGGAATGGGCAATGAAATAGACTTACACACTGTACATT
1060499795	389223	NM_032119.3(ADGRV1):c.10426G>A (p.Gly3476Arg)	ADGRV1	Jun 04, 2016	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90728933	TACCTAATATTTGCCGAAAATGTCTTTCTAGGTGAGAAGATAAAGTATTTGTAGTGTATAT
199474829	24701	m.7896G>A	MT-CO2	Sep 01, 2001	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	MT	7896	CCCTTACCATCAAATCAATTGGCCACCAATGGTACTGAACCTACGAGTACACCGACTACGG
794727740	195052	NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr)	KCNQ2	Sep 14, 2017	MedGen:C1852587,OMIM:121200;MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;MedGen:CN517202	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 7;Seizures;not provided	de novo;germline	20	63442429	AAGGGGGAGAACGACCACTTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGGTGAGTT
121913488	31313	NM_004119.2(FLT3):c.2503G>A (p.Asp835Asn)	FLT3	Oct 02, 2014	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007	Acute myeloid leukemia	somatic	13	28018505	GTGAAGATATGTGACTTTGGATTGGCTCGAGATATCATGAGTGATTCCAACTATGTTGTCA
104886063	35641	NM_000495.4(COL4A5):c.611G>A (p.Gly204Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108577953	TTATTTTCTCTTTTGTCTTCTCTTCTTAGGGCCCTCCTGGTCCACCAGGACTTCCAGGACC
121912834	32475	NM_000094.3(COL7A1):c.6752G>A (p.Gly2251Glu)	COL7A1	May 01, 2007	MedGen:C2675780;MedGen:C1843761,OMIM:607523;MedGen:C1851573,OMIM:131705,Orphanet:ORPHA79411	Epidermolysis bullosa pruriginosa, autosomal dominant;Nail disorder, nonsyndromic congenital, 8;Transient bullous dermolysis of the newborn	germline	3	48572941	GCAGCCCTGACAGAGCTCTTCCCTCTCAGGGGGAGACAGGGAAGCCGGGAGCCCCAGGTCG
121918569	28197	NM_000448.2(RAG1):c.2333G>A (p.Arg778Gln)	RAG1	Mar 14, 2017	MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949;MedGen:CN517202	Combined cellular and humoral immune defects with granulomas;not provided	germline	11	36575637	ACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCAT
74315408	28444	NM_000311.4(PRNP):c.538G>A (p.Val180Ile)	PRNP	Mar 18, 2016	MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C0022336,OMIM:123400,Orphanet:ORPHA204,SNOMED CT:792004	Genetic prion diseases;Jakob-Creutzfeldt disease	germline	20	4699758	AGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCA
199422230	25534	NM_000202.7(IDS):c.1425G>A (p.Trp475Ter)	IDS	Aug 01, 1992	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline	X	149482974	GTATCCCCGGCCTTCAGACATCCCTCAGTGGAATTCTGACAAGCCGAGTTTAAAAGATATA
1064793859	411073	NM_000061.2(BTK):c.894+1G>A	BTK	Aug 13, 2015	MedGen:CN517202	not provided	germline	X	101359292	AGTCAGGCTGAGCAACTGCTAAAGCAAGAGGTAAGTGTGGAACCACTAGCACACAGCATTC
137852830	15548	NM_001142446.1(ANK1):c.5286G>A (p.Trp1762Ter)	ANK1	May 01, 1998	MedGen:C2674218,OMIM:182900	Spherocytosis type 1	germline	8	41668498	ATACCTGCAAGATGCTGCACAAGGTTCCTGGCAAGAGGAGGTCACGCAAGGTCCACACTCA
864321648	217184	NM_004387.3(NKX2-5):c.391G>A (p.Glu131Lys)	NKX2-5	Nov 02, 2012	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	de novo	5	173233153	GAGCTGGAGAAGACAGAGGCGGACAACGCGGAGCGGCCCCGGGCGCGACGGCGGAGGAAGC
767176610	434381	NM_052988.4(CDK10):c.609-1G>A	CDK10	Sep 29, 2017	MedGen:CN502749,OMIM:617694	AL KAISSI SYNDROME	germline	16	89694172	GCTGTATTGAGGTGGGTGCTTCTGTGTGTAGGTACCGAGCCCCTGAACTGCTGTTGGGAAC
80338950	38617	NM_004004.5(GJB2):c.551G>A (p.Arg184Gln)	GJB2	May 09, 2017	MedGen:C2675750,OMIM:601544;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;MedGen:CN517202	Deafness, autosomal dominant 3a;Hearing impairment;not provided	germline	13	20189031	GTCCCAACACTGTGGACTGCTTTGTGTCCCGGCCCACGGAGAAGACTGTCTTCACAGTGTT
121912919	106876	NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991678	TATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGAC
587783846	169959	NM_000252.2(MTM1):c.64-1G>A	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150596497	ATTACTTCTGATGCATCTGTTTTGTTTCTAGACGTCTCGAGATGGAGTCAATCGAGATCTC
794728401	197156	NM_000238.3(KCNH2):c.3002G>A (p.Trp1001Ter)	KCNH2	Mar 04, 2016	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	7	150947478	TCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGA
193204571	440107	NM_018051.4(WDR60):c.2305G>A (p.Glu769Lys)	WDR60	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:CN674505	Jeune thoracic dystrophy;Short-rib polydactyly syndrome type III	unknown	7	158926234	GTAAACCACCGAAGCCCTCTTCAAGCAGTAGAACCTATCTCAACGTCCGTCCACAAAAAGC
875989783	227700	NM_177438.2(DICER1):c.4050+1G>A	DICER1	Jul 15, 2014	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0030408,MedGen:C0205898,Orphanet:ORPHA251909	Hereditary cancer-predisposing syndrome;Pineoblastoma	germline	14	95103345	GGCCGCCTTTCATATATGAGAAGCAAAAAGGTAAGAGATGATTTTTTTATTTTGAGCAGTT
1064793922	407790	NM_000264.4(PTCH1):c.590G>A (p.Trp197Ter)	PTCH1	Feb 06, 2017	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002;MedGen:CN517202	Gorlin syndrome;not provided	germline	9	95482198	TTGTCTCTGCTTTTCATTTTATTAGGCAGTGGAAATTGGAACATTTGTGTTACAAATCAGG
113994205	19482	NM_004937.2(CTNS):c.414G>A (p.Trp138Ter)	CTNS	Jun 27, 2016	MedGen:C0010690,OMIM:219800	Nephropathic cystinosis	germline;unknown	17	3655305	GGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATG
104894755	25885	NM_000054.4(AVPR2):c.602G>A (p.Gly201Asp)	AVPR2	Nov 01, 1997	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153906108	ACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCT
-1	485738	NM_000163.4(GHR):c.945G>A (p.Lys315=)	GHR	Jan 04, 2018	MedGen:C0271568,OMIM:262500,Orphanet:ORPHA633,SNOMED CT:38196001	Laron-type isolated somatotropin defect	germline	5	42718121	GATTAAAGGAATCGATCCAGATCTCCTCAAGGTAACTAATAATTTTATCTAAATTGTAGCT
121908942	21775	NM_006892.3(DNMT3B):c.1987G>A (p.Gly663Ser)	DNMT3B	Nov 11, 1999	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	germline	20	32800916	GATCTCTCAAATGTGAATCCAGCCAGGAAAGGCCTGTATGGTGAGCATCCTTCTCTCTGGC
267606743	33502	NM_001845.5(COL4A1):c.1528G>A (p.Gly510Arg)	COL4A1	Apr 28, 2017	MedGen:C2673195,OMIM:611773,Orphanet:ORPHA73229;MedGen:C1867327,OMIM:180000,Orphanet:ORPHA75326	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Retinal arteries, tortuosity of	not provided	13	110192222	AGAGGTTTGCCTGGCAGAGATGGTGTTGCAGGAGTGCCAGTAAGTAAACCTGTCTGAGTTC
140366557	482290	NM_052873.2(IFT43):c.100G>A (p.Glu34Lys)	IFT43	Feb 08, 2018	MedGen:CN802781,OMIM:617871	RETINITIS PIGMENTOSA 81	germline	14	75988930	CGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTT
67839036	103180	NM_000531.5(OTC):c.664-1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38408741	CTAAATAAGATTTAAATTCTTCCTCCTTTAGGGTTATGAGCCGGATGCTAGTGTAACCAAG
80359864	16778	NM_001017420.2(ESCO2):c.1269G>A (p.Trp423Ter)	ESCO2	Oct 02, 2008	MedGen:C0392475,OMIM:268300,OMIM:269000,SNOMED CT:48718006	Roberts-SC phocomelia syndrome	germline	8	27791968	TGACCCTTTTGTTTTCCTTTGGCAGGGTTGGAAGAAAGAACGTGTAGTAGCAGAGTTTTGG
587778846	132344	NM_000321.2(RB1):c.1332+1G>A	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48377035	GGACAGGGTTGTGTCGAAATTGGATCACAGGTAACTTGAATTCATTGTAATTCGTGGTACT
72648322	414012	NM_000088.3(COL1A1):c.1201G>A (p.Gly401Ser)	COL1A1	-	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	maternal	17	50195330	GCTCACGCCCTGGCTGTCTGCCTCCCACAGGGTGCTCCTGGTATTGCTGGTGCTCCTGGCT
549095193	389255	NM_001039141.2(TRIOBP):c.3055G>A (p.Gly1019Arg)	TRIOBP	Jun 04, 2016	MedGen:C1853276,OMIM:609823	Deafness, autosomal recessive 28	germline	22	37725611	CCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGC
104886057	35634	NM_000495.4(COL4A5):c.593G>A (p.Gly198Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108575956	CTGGTATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGTAAGCTCTCTTCT
879255558	227931	NM_001031710.2(KLHL7):c.1115G>A (p.Arg372Gln)	KLHL7	Jul 28, 2016	MedGen:C1848947,OMIM:272430;MedGen:C4310742,OMIM:617055	Cold-induced sweating syndrome 1;Cold-induced sweating syndrome 3	germline;inherited	7	23165876	GGTATTCGAAACTGGGTCCTCCGACACCTCGAGACAGCCTTGCTGCATGTGCTGCAGAAGG
121434274	18627	NM_000016.5(ACADM):c.799G>A (p.Gly267Arg)	ACADM	Jun 29, 2017	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline;unknown	1	75749509	GTGCCTAAAGAAAATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCAATGGGAGCTT
121918693	27592	NM_001252634.1(THRB):c.959G>A (p.Arg320His)	THRB	Oct 12, 2012	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127684	TGGAGATCATGTCCCTTCGCGCTGCTGTGCGCTATGACCCAGAAAGTGAGACTTTAACCTT
863225033	213800	NM_001165963.1(SCN1A):c.3657G>A (p.Trp1219Ter)	SCN1A	Jul 17, 2013	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	germline	2	166013792	GACGTGTTTCCGAATAGTTGAACATAACTGGTTTGAGACCTTCATTGTTTTCATGATTCTC
-1	485840	NM_000044.4(AR):c.2086G>A (p.Asp696Asn)	AR	Mar 10, 2010	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711602	GTGTGTGCTGGACACGACAACAACCAGCCCGACTCCTTTGCAGCCTTGCTCTCTAGCCTCA
778269655	186804	NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter)	ATM	May 04, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	11	108343260	CCTCTCTCAGCGAAGTGGTGTTCTTGAATGGTGCACAGGAACTGTCCCCATTGGTGAATTT
587782114	151635	NM_000051.3(ATM):c.6326G>A (p.Trp2109Ter)	ATM	Oct 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108317500	ATTACCAAGCAGCATGGAGGAATATGCAGTGGGACCATTGCACTTCCGTCAGGTAAGAAAT
794728478	197296	NM_000238.3(KCNH2):c.1129-1G>A	KCNH2	Sep 22, 2014	MedGen:CN517202	not provided	germline	7	150952854	TCACCCACACCTCCGCCTTCCCCGGGTGCAGGTCCTGTCCCTGGGCGCCGACGTGCTGCCT
397515903	51702	NM_000256.3(MYBPC3):c.1458-1G>A	MYBPC3	Aug 24, 2015	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47342745	CACAGCACTTGCCACCCACCCACCCGGCTAGGCTGAAGGACGGGGTGGAGCTGACCCGGGA
119103236	17168	NM_005787.5(ALG3):c.512G>A (p.Arg171Gln)	ALG3	Jul 01, 2005	MedGen:C1832736,OMIM:601110,Orphanet:ORPHA79321	Congenital disorder of glycosylation type 1D	germline	3	184245291	CTTACCGTGTCCACTCCATCTTTGTGCTGCGGCTCTTCAATGACCCAGTGGCCATGGTGCT
111033720	36539	NM_000155.3(GALT):c.536G>A (p.Gly179Asp)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648143	AGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGT
587783625	168576	NM_004456.4(EZH2):c.1876G>A (p.Val626Met)	EZH2	Apr 09, 2014	MedGen:C0265210,OMIM:277590,SNOMED CT:63119004	Weaver syndrome	de novo;germline	7	148811696	CTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATC
1135401953	424901	NM_000088.3(COL1A1):c.1247G>A (p.Gly416Asp)	COL1A1	Oct 20, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:CN517202	Osteogenesis imperfecta type I;not provided	germline;unknown	17	50195284	CTGGTGCTCCTGGCTTCCCTGGTGCCCGAGGCCCCTCTGGACCCCAGGGCCCCGGCGGCCC
80357446	68866	NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr)	BRCA1	Nov 11, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43115729	CTGTCTCCACAAAGTGTGACCACATATTTTGCAAGTAAGTTTGAATGTGTTATGTGGCTCC
199476187	47867	NM_207352.3(CYP4V2):c.283G>A (p.Gly95Arg)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186194568	CGCCACATGCCGCTGCTGAAGCTCTGGGTCGGGCCAGTGCCCATGGTGGCCCTTTATAATG
587776889	39757	NM_015506.2(MMACHC):c.609G>A (p.Trp203Ter)	MMACHC	Jul 13, 2017	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26	Methylmalonic acidemia with homocystinuria	germline	1	45508975	CGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAG
397516740	53590	NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter)	LAMP2	Apr 06, 2017	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006;MedGen:CN517202	Danon disease;not provided	germline	X	120455461	TAGCAGTGCAGTTCGGACCTGGCTTTTCCTGGATTGCGAATTTTACCAAGGCAGCATCTAC
1085307120	404686	NM_025009.4(CEP135):c.1473+1G>A	CEP135	Mar 29, 2017	MedGen:C3553414,OMIM:614673	Primary autosomal recessive microcephaly 8	germline	4	55974970	AAAAGTTCAATATTTAGAACACCAGAAAAGGTAATGTCCCTTTATAAGAGTAGGCCAGAAA
193922258	441093	NM_000162.4(GCK):c.1020-1G>A	GCK	Jul 06, 2017	MedGen:CN517202	not provided	germline	7	44145731	AGCGACCGCCCTACCTCCTCCCGCCCCGCAGCGACACGGGCGACCGCAAGCAGATCTACAA
1114167569	419619	NM_000038.5(APC):c.1958+1G>A	APC	Dec 29, 2016	MedGen:CN240755;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis;Hereditary cancer-predisposing syndrome	germline	5	112835166	CAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTTTAAAG
377349459	150947	NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter)	ATM	Aug 10, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108332886	TTATATTAGCAAACTTAGATGCCACTCAGTGGAAGACTCAGAGAAGTATGTTTTTTTTAAA
1057517967	360415	NM_000267.3(NF1):c.669G>A (p.Trp223Ter)	NF1	Oct 17, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	31181724	GGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAA
267607768	95759	NM_000249.3(MLH1):c.588+5G>A	MLH1	Nov 03, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	3	37011867	CAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTT
118204103	16482	NM_000190.3(HMBS):c.77G>A (p.Arg26His)	HMBS	Aug 01, 1993	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119088298	CAAAGATGAGAGTGATTCGCGTGGGTACCCGCAAGAGCCAGGTGGGTGCAGGAGCCGGGGT
794728572	197477	NM_000218.2(KCNQ1):c.1176G>A (p.Trp392Ter)	KCNQ1	Sep 26, 2011	MedGen:CN517202	not provided	germline	11	2587617	TGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGC
730882122	181168	NM_004523.3(KIF11):c.790-1G>A	KIF11	Feb 19, 2015	MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	germline	10	92613376	TCACTTTTTATTTTTATTTTTAAAATTAAAGGTTGATCTTGCAGGAAGTGAAAACATTGGC
137853130	17556	NM_000346.3(SOX9):c.472G>A (p.Ala158Thr)	SOX9	Jul 27, 2001	MedGen:C1842462	Campomelic dysplasia with autosomal sex reversal	germline	17	72122759	GAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGG
12406470	417642	NR_040073.1(MIR181A1HG):n.364-18748G>A	MIR181A1HG	-	MedGen:C1879321,Orphanet:ORPHA98834	Acute myeloid leukemia with maturation	germline	1	198826991	GTATAATGCTCAAACTGATCTTTAGCGCTGGACACTTGAGAGTTGACAATGTTTCTATGAT
1057524878	380178	NM_203446.2(SYNJ1):c.2528G>A (p.Trp843Ter)	SYNJ1	Jan 17, 2018	MedGen:CN240908,OMIM:617389	Epileptic encephalopathy, early infantile, 53	germline	21	32657766	ACACCAGTGAAAAGTGCCGCACCCCTGCCTGGACAGACCGTGTCCTTTGGAGAAGGAGGAA
1064796916	405549	NM_032504.1(UNC80):c.6695G>A (p.Trp2232Ter)	UNC80	Mar 20, 2017	MedGen:CN517202	not provided	germline	2	209941467	ACCACCTCTTCTCTCTCAGCGGCTACCAGTGGATTCTCCCCACCATGCTGCAGGTGCCCAG
-1	442117	NM_000435.2(NOTCH3):c.3011G>A (p.Cys1004Tyr)	NOTCH3	Sep 12, 2016	MedGen:CN517202	not provided	germline	19	15180812	TGCTTCCCCTCCAGACGCTGGTGGATTGGTGCAGCCGCCAGCCTTGTCAAAACGGGGGTCG
397514734	75257	NM_020435.3(GJC2):c.787G>A (p.Glu263Lys)	GJC2	Jan 01, 2013	MedGen:C1837355,OMIM:608804,Orphanet:ORPHA280270	Leukodystrophy, hypomyelinating, 2	germline	1	228158545	GTGGTGGACTGCTTCGTGTCGCGCCCTACTGAAAAGACGGTCTTCCTGCTGGTTATGTACG
104894255	67810	NM_000218.2(KCNQ1):c.946G>A (p.Gly316Arg)	KCNQ1	Jul 21, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2583459	CTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGA
797044951	205294	NM_020988.2(GNAO1):c.736G>A (p.Glu246Lys)	GNAO1	Jul 25, 2017	MeSH:D030342,MedGen:C0950123;MedGen:CN244050,OMIM:617493;MedGen:CN517202	Inborn genetic diseases;Neurodevelopmental disorder with involuntary movements;not provided	germline	16	56351396	CCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTA
121434533	33205	NM_000262.2(NAGA):c.986G>A (p.Arg329Gln)	NAGA	Feb 01, 2001	MedGen:C1836522,OMIM:609242,Orphanet:ORPHA79280	Kanzaki disease	germline	22	42061039	AGGAAAAATCTCTCATCGAAGTGTACATGCGGCCTCTGTCCAACAAGGCTAGCGCCTTAGT
864622273	221982	NM_000399.4(EGR2):c.1226G>A (p.Arg409Gln)	EGR2	Oct 28, 2016	MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009;MedGen:CN517202	Charcot-Marie-Tooth disease, type I;not provided	germline	10	62813412	CCTGTGACTACTGTGGCCGAAAGTTTGCCCGGAGTGATGAGAGGAAGCGCCACACCAAGAT
137852380	25202	NM_000132.3(F8):c.266G>A (p.Gly89Asp)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154997095	TAACCTTTGGCGGACATCTCATTCTTACAGGTCTGCTAGGTCCTACCATCCAGGCTGAGGT
398123234	98492	NM_000181.3(GUSB):c.1084G>A (p.Asp362Asn)	GUSB	Jun 26, 2013	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65974686	GCTATCTCCTAGATCCGAGGGAAGGGCTTCGACTGGCCGCTGCTGGTGAAGGACTTCAACC
398123464	99137	NM_000532.4(PCCB):c.3G>A (p.Met1Ile)	PCCB	Sep 14, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136250378	CGGTAGGGGACGCGCCGGCACAGCAAAAATGGCGGCGGCATTACGGGTGGCGGCGGTCGGG
4884357	20271	NM_007375.3(TARDBP):c.892G>A (p.Gly298Ser)	TARDBP	Mar 12, 2015	MedGen:C2677565,OMIM:612069	Amyotrophic lateral sclerosis type 10	germline	1	11022301	GGATTTGGTAATAGCAGAGGGGGTGGAGCTGGTTTGGGAAACAATCAAGGTAGTAATATGG
397515512	76463	NM_000095.2(COMP):c.1813G>A (p.Asp605Asn)	COMP	Jul 25, 2013	MedGen:C1838280,OMIM:132400,Orphanet:ORPHA93308	Multiple epiphyseal dysplasia 1	not provided	19	18784997	GACTATGCGGGCTTCATCTTTGGCTACCAGGACAGCTCCAGCTTCTACGTGGTCATGTGGA
79555199	28838	NM_003990.4(PAX2):c.226G>A (p.Gly76Ser)	PAX2	Mar 01, 2012	MedGen:C1852759,OMIM:120330,Orphanet:ORPHA1475,SNOMED CT:446449009	Renal coloboma syndrome	germline	10	100750707	CGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCT
753874439	373048	NR_003051.3(RMRP):r.147G>A	RMRP	Aug 02, 2017	MedGen:C1846796,Orphanet:ORPHA93347;MedGen:CN517202	Anauxetic dysplasia;not provided	germline	9	35657872	AGACATTCCCCGCTTCCCACTCCAAAGTCCGCCAAGAAGCGTATCCCGCTGAGCGGCGTGG
552436294	408032	NM_001080463.1(DYNC2H1):c.5983G>A (p.Ala1995Thr)	DYNC2H1	Sep 07, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:CN674505;MedGen:CN517202	Jeune thoracic dystrophy;Short-rib polydactyly syndrome type III;not provided	germline;inherited;maternal;paternal;unknown	11	103177664	AAATCAACGCTTTGGAGAATGTTAAGGGCTGCGCTTTGTAAAACTGGCAAAGTAGTGAAAC
786202760	479157	NM_032043.2(BRIP1):c.1941G>A (p.Trp647Ter)	BRIP1	Apr 13, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61776557	TAATAATGACATATTCATATTCTAGGTTTGGGTTGGTACCATTGGGTCAGGCCCCAAGGGT
587779464	107010	NM_000090.3(COL3A1):c.755G>A (p.Gly252Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188990317	TTTTCATTCATTATTTTTAGGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGTAT
128626246	26294	NM_004006.2(DMD):c.3188G>A (p.Trp1063Ter)	DMD	Oct 04, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32464674	TTCAGAATCACATACAAACCCTGAAGAAATGGATGGCTGAAGTTGATGTTTTTCTGAAGGA
1085307198	414130	NM_001204.6(BMPR2):c.255G>A (p.W85*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467526	TTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCAC
863224499	213395	NM_000546.5(TP53):c.672+1G>A	TP53	Apr 03, 2017	MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001	Li-Fraumeni syndrome	germline	17	7674858	AGTGTGGTGGTGCCCTATGAGCCGCCTGAGGTCTGGTTTGCAACTGGGGTCTCTGGGAGGA
137853111	16163	NM_015139.2(SLC35D1):c.932G>A (p.Trp311Ter)	SLC35D1	Nov 01, 2007	MedGen:C0432194,OMIM:269250,Orphanet:ORPHA3144,SNOMED CT:254049009	Schneckenbecken dysplasia	germline	1	67009112	TGGTCTTTGGTGGAGATTATATTTTCACGTGGACAAACTTCATTGGTTTAAATATCAGGTA
118204009	16708	NM_000785.3(CYP27B1):c.1166G>A (p.Arg389His)	CYP27B1	Sep 20, 2016	MedGen:C0221468;MedGen:C0268689,OMIM:264700,Orphanet:ORPHA289157,SNOMED CT:67049004;MedGen:CN517202	Vitamin D-Dependent Rickets;Vitamin D-dependent rickets, type 1;not provided	germline	12	57764147	GACTGTACCCTGTGGTACCTGGAAATTCTCGTGTCCCAGACAAAGACATTCATGTGGGTGA
397514746	75293	NM_001130089.1(KARS):c.1129G>A (p.Asp377Asn)	KARS	Jan 17, 2014	MedGen:C3151351,OMIM:613916	Deafness, autosomal recessive 89	germline	16	75631726	GAGTTCTACATGGCCTATGCAGACTATCACGATCTCATGGAAATCACGGAGAAGATGGTTT
1057518372	359446	NM_000090.3(COL3A1):c.897+1G>A	COL3A1	Nov 15, 2016	MedGen:CN517202	not provided	germline	2	188991532	CCAGGCGAAAATGGAGCTCCTGGACCCATGGTAATTATGTTTCTTATGTATAATTTTCAGT
146221660	213932	NM_016434.3(RTEL1):c.2957G>A (p.Arg986Gln)	RTEL1	May 19, 2015	MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000;MedGen:C4225346,OMIM:616373	Idiopathic fibrosing alveolitis, chronic form;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	germline;inherited	20	63693248	GTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCC
121909098	22302	NM_005603.4(ATP8B1):c.2674G>A (p.Gly892Arg)	ATP8B1	Mar 01, 1998	MedGen:C0268312,OMIM:211600,Orphanet:ORPHA172,SNOMED CT:74162007	Progressive intrahepatic cholestasis	germline	18	57661207	AGGTACAAGAAAGCCATCACGCTGGCCATCGGAGATGGGGCCAATGACGTGAACATGATCA
1085307985	415405	NM_013382.5(POMT2):c.462G>A (p.Trp154Ter)	POMT2	May 04, 2015	MedGen:CN517202	not provided	germline	14	77304777	CCCACAGTTCTGTGCATTCCTTGGCTCCTGGCTGGTCCCCTTTGCCTACCTCACTGTACTG
-1	443924	NM_020732.3(ARID1B):c.3862+1G>A	ARID1B	Sep 19, 2017	MedGen:CN517202	not provided	germline	6	157190211	ACAAGGACCCCTTTGGGGGAATGAGAAAAGGTACGTGTAGAGGGGCCTCCACCCGGCCATG
118204098	16488	NM_000190.3(HMBS):c.446G>A (p.Arg149Gln)	HMBS	Aug 01, 1991	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119090213	TGGGCAGTGTGGTGGGAACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCCC
779093807	375799	NM_016239.3(MYO15A):c.9876G>A (p.Trp3292Ter)	MYO15A	Jan 20, 2017	MedGen:CN517202	not provided	germline	17	18166449	GGAGCAGGTGGACGGCGGCTACATGCTCTGGTTCCGGCGTGTGCTCTGGGATCAGCCACTC
786204241	186054	NM_138694.3(PKHD1):c.8303-1G>A	PKHD1	Jan 27, 2015	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51791374	CATATCTGAGCAATTTCTTTTTCTTCCACAGACAGAACTGTCCTTGTGGATACAGATCTTC
1085307421	414401	NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met)	ACVRL1	-	MedGen:C1832529	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	germline	12	51919062	GACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCC
67828806	32387	NM_000088.3(COL1A1):c.572G>A (p.Gly191Asp)	COL1A1	Mar 10, 2006	MedGen:C1852924	Oi/eds combined syndrome	germline	17	50198177	AGGGTCCCTCTGGTCCTCGTGGTCTCCCTGGCCCCCCTGGTGCACCTGTGAGTATCCAGGA
199474778	242655	NM_000267.3(NF1):c.2352G>A (p.Trp784Ter)	NF1	Feb 15, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31227549	TTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTAT
387906648	38739	NM_001242957.2(MAK):c.497G>A (p.Arg166His)	MAK	Aug 12, 2011	MedGen:C3280042,OMIM:614181	Retinitis pigmentosa 62	germline	6	10803886	CCTCTTTTGTTCTCTATTTTCATAGGTATCGTGCCCCTGAAGTTTTACTGAGATCTTCAGT
879254801	246004	NM_000527.4(LDLR):c.1130G>A (p.Cys377Tyr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111583	TCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCC
80356662	23904	NM_000209.3(PDX1):c.532G>A (p.Glu178Lys)	PDX1	Jul 05, 2011	MedGen:C1850096,OMIM:260370,Orphanet:ORPHA2805	Pancreatic agenesis, congenital	germline	13	27924381	AACAAGTACATCTCACGGCCGCGCCGGGTGGAGCTGGCTGTCATGTTGAACTTGACCGAGA
-1	444811	NM_000256.3(MYBPC3):c.2738-1G>A	MYBPC3	Aug 09, 2016	MedGen:CN517202	not provided	germline	11	47335210	TGTGGCCTTGCCTCCCCCTCCCCACCCCCAGGCTCAGAGTGGGTGGCTGCCCTGCAGGGGC
879254685	245805	NM_000527.4(LDLR):c.817+1G>A	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11106688	ACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCC
869320632	226736	NM_030805.3(LMAN2L):c.158G>A (p.Arg53Gln)	LMAN2L	Apr 01, 2016	MedGen:C4225168,OMIM:616887	Mental retardation, autosomal recessive 52	germline	2	96739883	GGGCGGGTCAAACGTTCGAGTACTTGAAACGGGAGCACTCGCTGTCGAAGCCCTACCAGGG
199472681	67707	NM_000218.2(KCNQ1):c.365G>A (p.Cys122Tyr)	KCNQ1	Nov 26, 2013	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2445463	ACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTTACCACTTCGCCGTGTGAGTATC
587783096	166473	NM_139058.2(ARX):c.1141G>A (p.Ala381Thr)	ARX	Mar 13, 2014	MedGen:CN517202	not provided	germline	X	25007418	GCCTTGCAGGTCTGGTTCCAGAACCGTCGGGCCAAGTGGCGCAAGCGGGAGAAGGCAGGCG
59157279	427008	NM_001171.5(ABCC6):c.1540G>A (p.Val514Ile)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16190259	CATGGCTGGGAGGGAGCCTTTCTGGACAGAGTCCTGGGCATCCGAGGCCAGGAGCTGGGCG
397508532	68376	NM_000492.3(CFTR):c.3293G>A (p.Trp1098Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117611734	ACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGT
373746463	23641	NM_000256.3(MYBPC3):c.3330+5G>A	MYBPC3	Jan 05, 2017	MedGen:C1861862,OMIM:115197;MedGen:CN517202	Familial hypertrophic cardiomyopathy 4;not provided	germline	11	47333189	TGCAGAAAGCCGACAAGAAGACCATGGTGAGCCCAGGGTCTGGGGTCCCCACGTGCACCCT
878853659	240463	NM_000118.3(ENG):c.68-1G>A	ENG	Jan 10, 2018	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN517202	Osler hemorrhagic telangiectasia syndrome;not provided	germline	9	127843246	CCTGGCCTCTTTCCGGATGTTTCTCCAACAGGTCTTGCAGAAACAGTCCATTGTGACCTTC
63749856	21618	NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg)	ABCC6	May 08, 2017	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline;unknown	16	16155010	CCCGGGCAGGTGGGCATCGTTGGCAGGACCGGGGCAGGGAAGTCCTCCCTGGCCAGTGGGC
587776925	48105	NM_003094.3(SNRPE):c.133G>A (p.Gly45Ser)	SNRPE	Jan 10, 2013	MedGen:C3554409,OMIM:615059	Hypotrichosis 11	germline	1	203863714	CTCTATGAGCAAGTGAATATGCGGATAGAAGGCTGTATCATTGTGAGTATCCAGGCGATTT
80358313	21333	NM_002335.3(LRP5):c.1828G>A (p.Gly610Arg)	LRP5	Aug 01, 2005	MedGen:C4016839	Exudative vitreoretinopathy 4, autosomal recessive	germline	11	68406550	CCAGGAACCAACCCGTGTGCGGACAGGAACGGGGGGTGCAGCCACCTGTGCTTCTTCACAC
137852373	25185	NM_000132.3(F8):c.5167G>A (p.Glu1723Lys)	F8	Aug 01, 1991	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154928623	AAAACACGACACTATTTTATTGCTGCAGTGGAGAGGCTCTGGGATTATGGGATGAGTAGCT
886039743	259622	NM_001854.3(COL11A1):c.1685G>A (p.Gly562Asp)	COL11A1	Aug 26, 2016	MedGen:CN517202	not provided	germline	1	103006314	TATGGTTTAATTATGATGTCTTGATATAGGGCCCTCGAGGCGTCCAGGGTCCCCCTGGTCC
111033735	36561	NM_000155.3(GALT):c.602G>A (p.Arg201His)	GALT	Dec 03, 2015	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34648371	CCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAG
772551056	181624	NM_003000.2(SDHB):c.137G>A (p.Arg46Gln)	SDHB	Sep 11, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;not provided	germline;unknown	1	17044824	CTCCCCGTATCAAGAAATTTGCCATCTATCGATGGGACCCAGACAAGGCTGGAGACAAACC
-1	442154	NM_000435.2(NOTCH3):c.752G>A (p.Cys251Tyr)	NOTCH3	Jan 22, 2016	MedGen:CN517202	not provided	germline	19	15191795	CAGGACACCGATGTCTCAATGGGGGGACATGCGTGGATGGCGTCAACACCTATAACTGCCA
80338657	18855	NM_000081.3(LYST):c.4688G>A (p.Arg1563His)	LYST	Feb 16, 2012	MedGen:CN068762;MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chediak-Higashi syndrome, adult type;Chédiak-Higashi syndrome	germline	1	235788701	CTGATCCCCACAATGCCACTCTTATCTTTCGGTATTGATTATCCTCAGCCTCCCATGAATA
-1	474927	NM_002485.4(NBN):c.1502G>A (p.Trp501Ter)	NBN	Dec 09, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	8	89953587	AACAAACACAACCTGCTACACCCTCATTGTGGAAAAATAAGGAGCAGCATCTATCTGAGAA
6413484	23691	NM_000163.4(GHR):c.484G>A (p.Val162Ile)	GHR	Nov 01, 1998	MedGen:C1858656,OMIM:604271,OMIM:615925	Short stature, idiopathic, autosomal	germline	5	42699868	CCCATTGCCCTCAACTGGACTTTACTGAACGTCAGTTTAACTGGGATTCATGCAGATATCC
587779708	107222	NM_000090.3(COL3A1):c.2023-1G>A (p.Gly675Valfs*116)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999284	TAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGA
121918732	27539	NM_000359.2(TGM1):c.652G>A (p.Gly218Ser)	TGM1	Sep 01, 1997	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24260555	CGGGTCCACACTTCCCCCAACGCCATCATCGGCAAGTTTCAGTTCACAGTCCGCACACAAT
869312725	225903	NM_017671.4(FERMT1):c.957+1G>A	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6097523	GAAGAAATGTTGATCTTTGCAGCTCTACAGGTATGGGAACTTCAGTACCTTTTCTCTGGAA
193922219	51564	NM_000138.4(FBN1):c.5788+5G>A	FBN1	Mar 20, 2017	Human Phenotype Ontology:HP:0002616,MedGen:C0238669;Human Phenotype Ontology:HP:0001166,MedGen:C0003706;Human Phenotype Ontology:HP:0002622,MedGen:C0012736;Human Phenotype Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED CT:74969002;Human Phenotype Ontology:HP:0002140,MedGen:C0948008,OMIM:601367,SNOMED CT:422504002;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;Human Phenotype Ontology:HP:0011003,MedGen:C0271183;MedGen:CN517202	Aortic root dilatation;Arachnodactyly;Dissecting aortic aneurysm;Ectopia lentis;Ischemic stroke;Malignant melanoma;Marfan syndrome;Severe Myopia;not provided	germline;unknown	15	48446701	CCTTTCTCACAACAATGACTGTATAGGTGCGTGTGCAAAATTGTGCATCAGCAAAGGAAGT
876660765	233008	NM_000038.5(APC):c.933+1G>A	APC	Sep 18, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112815594	CGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTAA
1064795534	405686	NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser)	KIF1A	May 04, 2017	MedGen:C3280283,OMIM:614255;MedGen:CN517202	Mental retardation, autosomal dominant 9;not provided	germline	2	240788110	TGCATCTTCGCCTATGGGCAGACGGGTGCCGGCAAGTCCTACACCATGATGGGCAAGCAGG
121907904	18531	NM_024426.4(WT1):c.1193G>A (p.Cys398Tyr)	WT1	May 01, 1992	MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009	Drash syndrome	germline	11	32396313	AACGCCCCTTCATGTGTGCTTACCCAGGCTGCAATAAGAGATATTTTAAGCTGTCCCACTT
72653768	427017	NM_001171.5(ABCC6):c.1460G>A (p.Arg487Gln)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16190339	AGGAGGAGCAAATGAGGCAGAAGGACTCACGGGCACGGCTCACCAGCTCTATCCTCAGGAA
879255515	75259	NM_015375.2(DSTYK):c.24G>A (p.Trp8Ter)	DSTYK	Jan 25, 2018	Gene:100034704,MedGen:C1835826,OMIM:610805	Congenital anomalies of kidney and urinary tract 1, susceptibility to	germline	1	205211512	AGAGGCGATGGAGGGCGACGGGGTGCCATGGGGCAGCGAGCCCGTCTCGGGTCCCGGCCCC
104894415	20583	NM_006783.4(GJB6):c.31G>A (p.Gly11Arg)	GJB6	Aug 03, 2016	Human Phenotype Ontology:HP:0007529,MedGen:C0162361,OMIM:129500,Orphanet:ORPHA189,SNOMED CT:54209007;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Hidrotic ectodermal dysplasia syndrome;Nonsyndromic hearing loss and deafness;not provided	germline	13	20223450	ATGGATTGGGGGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCCACCAGCATCG
727505397	178395	NM_003688.3(CASK):c.1976G>A (p.Gly659Asp)	CASK	Jan 21, 2014	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	de novo	X	41553782	TTAGTAAGGATGATCATAATTGGTGGCAGGGTAAACTGGAAAACTCCAAAAATGGAACTGC
59565950	31207	NM_002055.4(GFAP):c.716G>A (p.Arg239His)	GFAP	May 16, 2017	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	de novo;germline	17	44913333	CAGACCTCACCGCAGCCCTGAAAGAGATCCGCACGCAGTATGAGGCAATGGCGTCCAGCAA
199795644	76425	m.14831G>A	MT-CYB	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	14831	ATCGACCTCCCCACCCCATCCAACATCTCCGCATGATGAAACTTCGGCTCACTCCTTGGCG
398123588	99543	NM_001165963.1(SCN1A):c.2576G>A (p.Arg859His)	SCN1A	Apr 06, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	germline	2	166039436	TCGCCAATGTGGAAGGATTATCTGTTCTCCGTTCATTTCGATTGGTAAAAAAAAAAAAAAA
553203474	106851	NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999570	GAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTTTTCTCTTAAT
121908660	21307	NM_002335.3(LRP5):c.29G>A (p.Trp10Ter)	LRP5	Nov 16, 2001	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68312743	ACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGCTGCTGCT
886041553	264159	NM_001904.3(CTNNB1):c.198G>A (p.Trp66Ter)	CTNNB1	Feb 11, 2016	MedGen:CN517202	not provided	germline	3	41224710	TGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAA
72659310	413963	NM_000089.3(COL1A2):c.2835+1G>A	COL1A2	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta type I;Osteogenesis imperfecta with normal sclerae, dominant form	unknown	7	94425664	CCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCATCTTTCTCTAATTCA
886040861	262090	NM_000836.2(GRIN2D):c.1999G>A (p.Val667Ile)	GRIN2D	Oct 19, 2016	MedGen:C4310687,OMIM:617162	Epileptic encephalopathy, early infantile, 46	germline	19	48419722	ATCATGGTGCTGGTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACC
63751027	95984	NM_000251.2(MSH2):c.1034G>A (p.Trp345Ter)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47416387	CCCCTCAAGGACAAAGACTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGATAAGAACAG
119456963	17676	NM_153240.4(NPHP3):c.2918G>A (p.Arg973Gln)	NPHP3	Apr 01, 2008	MedGen:C2673883,OMIM:208540,Orphanet:ORPHA294415	Renal-hepatic-pancreatic dysplasia	germline	3	132688857	TAGTACCTTTGCAGAGGTCTTTAGAGATTCGAGAAACAGCTTTAGATCCCGATCACCCAAG
1131691326	422096	NM_004380.2(CREBBP):c.5600G>A (p.Arg1867Gln)	CREBBP	May 04, 2017	MedGen:CN517202	not provided	germline	16	3729447	ACCGCCTGCAGCAGGCCCAGCTCATGCGCCGGCGGATGGCCACCATGAACACCCGCAACGT
1085307938	414926	NM_004366.5(CLCN2):c.71G>A (p.Gly24Asp)	CLCN2	Dec 22, 2017	Gene:79179,MedGen:C1854107,OMIM:605635,Orphanet:ORPHA404;MedGen:CN517202	Hyperaldosteronism, familial, type II;not provided	de novo;germline	3	184359124	CCCCATCCCCTCTGTTGCTCCAGATGTATGGCCGGTACACTCAGGACCTTGGGGCCTTTGC
-1	441837	NM_000296.3(PKD1):c.8162-1G>A	PKD1	Mar 17, 2017	MedGen:CN517202	not provided	germline	16	2103896	GTCTCTGCACTGACCTCACGCATGTCTGCAGGAGACCTCATCCACCTGGCCAGCTCGGACG
121912955	32149	NM_004530.5(MMP2):c.1210G>A (p.Glu404Lys)	MMP2	Mar 01, 2005	MedGen:C1850155,OMIM:259600	Multicentric osteolysis, nodulosis and arthropathy	germline	16	55491830	GGGTACAGCCTGTTCCTCGTGGCAGCCCACGAGTTTGGCCACGCCATGGGGCTGGAGCACT
1057524755	375940	NM_144612.6(LOXHD1):c.4741-1G>A	LOXHD1	Jan 23, 2017	MedGen:CN517202	not provided	germline	18	46524602	CTGCAACTGCCAGTCCTGCTCTCCCACACAGGAGTACACTGGGGACCGCAGCAGCAACTGC
730880318	28292	NM_001079.3(ZAP70):c.1624-11G>A	ZAP70	Jun 11, 2016	MedGen:C1849236,OMIM:269840	Severe combined immunodeficiency, atypical	germline	2	97737984	ACACTGGTCACTCACAGGTGTCTCTGCCCCGGCTTGAGCAGAAGATGAAAGGGCCGGAGGT
72659322	444189	NM_000089.3(COL1A2):c.3079G>A (p.Gly1027Arg)	COL1A2	Oct 02, 2017	MedGen:CN517202	not provided	germline	7	94426504	AGAGGTCTTCCTGGCTTAAAGGGACACAATGGATTGCAAGGTCTGCCTGGTATCGCTGTAA
397509172	69862	NM_007294.3(BRCA1):c.441+1G>A	BRCA1	Jun 06, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43104121	CTACAGAGTGAACCCGAAAATCCTTCCTTGGTAAAACCATTTGTTTTCTTCTTCTTCTTCT
752935814	246455	NM_000527.4(LDLR):c.1998G>A (p.Trp666Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11120380	CTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGC
727504334	174763	NM_000256.3(MYBPC3):c.2149-1G>A	MYBPC3	Aug 08, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN169374	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified	germline	11	47338680	TGGATCTCACCCCAACTCTGCACCCCCCCAGCTGCTGTGTGAGACCGAGGGCCGGGTCCGC
587783009	166158	NM_025114.3(CEP290):c.1711+1G>A	CEP290	Sep 18, 2014	MedGen:C1857821,OMIM:611755	Leber congenital amaurosis 10	unknown	12	88118482	AAGAAAGAGGAAAAAGAAGTGCAACTTCAGGTATACTCAGTTATTCTAAACCTTTAAAAAG
104886323	35582	NM_000495.4(COL4A5):c.142-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108559063	GACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGA
80356723	34337	NM_007375.3(TARDBP):c.883G>A (p.Gly295Ser)	TARDBP	Mar 12, 2015	MedGen:C2677565,OMIM:612069	Amyotrophic lateral sclerosis type 10	germline	1	11022292	AATCAGGGTGGATTTGGTAATAGCAGAGGGGGTGGAGCTGGTTTGGGAAACAATCAAGGTA
431905508	48583	NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)	NEK1	Feb 20, 2013	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	germline	4	169589478	TTTTTAACTAAAGATGGAACAGTACAACTTGGAGATTTTGGAATTGCTAGAGTTCTTAATA
538881762	216941	NM_001098816.2(TENM4):c.3412G>A (p.Val1138Met)	TENM4	Oct 15, 2015	MedGen:C4225223,OMIM:616736	Tremor, hereditary essential, 5	germline	11	78726217	TTTTGCCTCATTCTGTCACCTACAGTTTCCGTGGGTTATGAATATGAATCCTGCCCAGATC
397516357	52565	NM_000363.4(TNNI3):c.557G>A (p.Arg186Gln)	TNNI3	Aug 17, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	19	55151910	TCTGACTCATCGCCATCCTCCAGGAAAACCGGGAGGTGGGAGACTGGCGCAAGAACATCGA
-1	485480	NM_032043.2(BRIP1):c.1940G>A (p.Trp647Ter)	BRIP1	Feb 24, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	61776558	CTAATAATGACATATTCATATTCTAGGTTTGGGTTGGTACCATTGGGTCAGGCCCCAAGGG
72558482	103272	NM_000531.5(OTC):c.996G>A (p.Trp332Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411990	AGTGTTCCCAGAGGCAGAAAACAGAAAGTGGACAATCATGGTAAGCAAGAAACAAGGAATG
199922550	75128	NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile)	GMPPB	Oct 05, 2017	MedGen:CN229783,Orphanet:ORPHA370953;MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623;MedGen:CN517202	Muscular dystrophy-dystroglycanopathy;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;not provided	germline	3	49721847	ATGGAGAACGTGACAGTGCTGGGTGAGGACGTCATAGTTAATGATGAGCTCTACCTCAACG
886041024	263461	NM_080675.3(SUN5):c.781G>A (p.Val261Met)	SUN5	Nov 07, 2016	MedGen:C4310674,OMIM:617187	Spermatogenic failure 16	germline	20	32985852	TGCTGGGCCTTTGAGGGTGACCGCGGCCAGGTGACCATCCAATTGGCTCAGAAGGTTTACC
132630327	437734	NM_000475.4(NR0B1):c.315G>A (p.Trp105Ter)	NR0B1	Oct 05, 2017	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	maternal	X	30309049	GGCGCCCGAGGCGACGCTGGGTCCGTGCTGGGGCTGTTCGTGCGGCTCTGATCCCGGGGTG
121907956	18938	NM_000520.5(HEXA):c.1496G>A (p.Arg499His)	HEXA	Nov 02, 2017	MedGen:CN068769;MeSH:D030342,MedGen:C0950123;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Gm2-gangliosidosis, juvenile;Inborn genetic diseases;Tay-Sachs disease;not provided	germline	15	72345476	TGACATCTGACCTGACATTTGCCTATGAACGTTTGTCACACTTCCGCTGTGAATTGCTGAG
104894916	25548	NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln)	OPN1MW	Jun 07, 2002	Human Phenotype Ontology:HP:0011521,MedGen:C0155016,OMIM:303800	Colorblindness, partial, deutan series	germline	X	154195934	CTCAATAACGCTTTCTGTCCTTCCAGTTTCGAAACTGCATCTTGCAGCTTTTCGGGAAGAA
137853212	32853	NM_001082971.1(DDC):c.823G>A (p.Ala275Thr)	DDC	Aug 03, 2015	MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004	Deficiency of aromatic-L-amino-acid decarboxylase	germline	7	50499201	GACATATGGCTGCACGTTGATGCAGCCTACGCAGGCAGTGCATTCATCTGCCCTGAGTTCC
587780463	135786	NM_018344.5(SLC29A3):c.300+1G>A	SLC29A3	Feb 03, 2014	MedGen:C1864445,OMIM:602782,Orphanet:ORPHA168569	Histiocytosis-lymphadenopathy plus syndrome	germline	10	71323055	GGGGAGGACCCTGAGGGCTCAGACATCCTGGTAAGGGCATGTTTCTCCTGCAAGGCTGGTG
267606811	26598	NM_001159702.2(FHL1):c.838G>A (p.Val280Met)	FHL1	Aug 18, 2009	MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461	Myopathy with postural muscle atrophy, X-linked	germline	X	136209392	CCGGGTGGAGAGAGGACTTGTCCCTCGTGGGTGGTGGTTCTTTATAGAAAAAATCGAAGCT
886039691	260151	NM_004278.3(PIGL):c.60G>A (p.Trp20Ter)	PIGL	Aug 05, 2016	MedGen:CN517202	not provided	germline	17	16217286	GTTGGCGGTCTTGGCATGGGGCTTCCTCTGGGTTTGGGACTCCTCAGAACGAATGAAGAGT
869320702	227092	NM_058246.3(DNAJB6):c.346+5G>A	DNAJB6	Mar 27, 2017	MedGen:C3148763,OMIM:603511,Orphanet:ORPHA34517	Limb-girdle muscular dystrophy, type 1E	germline	7	157367488	GGACCCATTTTCATTTGACTTCTTTGGTAAGTTAATCACGTGGGTTGACTTGGTGTGTGTC
137852233	25618	NM_000133.3(F9):c.316G>A (p.Gly106Ser)	F9	Jun 13, 2017	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008;MedGen:CN169374	Hereditary factor IX deficiency disease;not specified	germline	X	139541114	CAGTGTGAGTCCAATCCATGTTTAAATGGCGGCAGTTGCAAGGATGACATTAATTCCTATG
104894268	31735	NM_000244.3(MEN1):c.778G>A (p.Glu260Lys)	MEN1	Nov 01, 1998	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Multiple endocrine neoplasia, type 1	germline	11	64807572	CCTTCCATTGACCTGCACACCGACTCGCTGGAGCTTCTGCAGCTGCAGCAGGTGAGGGCTG
121912945	32160	NM_080680.2(COL11A2):c.1981G>A (p.Gly661Arg)	COL11A2	Jun 13, 1997	MedGen:C0432210,OMIM:215150,SNOMED CT:254060000	Otospondylomegaepiphyseal dysplasia	germline	6	33177216	CTTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGCCCTCATGGAG
1064797077	411518	NM_000054.4(AVPR2):c.878G>A (p.Trp293Ter)	AVPR2	Oct 01, 2016	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153906384	GCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGA
796053509	203162	NM_000548.4(TSC2):c.3180G>A (p.Trp1060Ter)	TSC2	Oct 01, 2016	MedGen:CN517202	not provided	germline	16	2079324	CCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACG
587776812	29588	NM_000228.2(LAMB3):c.628+42G>A	LAMB3	Jul 01, 2008	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	somatic	1	209633028	TACTTCTCTTGTCCATGGAACTATGGGTGGGAAAGGAAACAGAGTTGGAGCCCAGGTCATG
886039654	260055	NM_000359.2(TGM1):c.132G>A (p.Trp44Ter)	TGM1	Jun 08, 2016	MedGen:CN517202	not provided	germline	14	24262221	CTCTCGCAGAGGAGGAGGCCGTTCCTTCTGGGCTCGCTGCTGTGGCTGCTGTTCATGCCGA
886043146	269823	NM_015295.2(SMCHD1):c.1843-1G>A	SMCHD1	Jan 08, 2016	Gene:2490,MedGen:C1834671,OMIM:158901	Facioscapulohumeral muscular dystrophy 2	germline	18	2705693	GCTTTTTTTTTTTTTAAAAACTAAATATTAGGTCAAGACAATCAAGACACTTCCCCTCTTT
1131691863	422522	NM_000216.3(ANOS1):c.3G>A (p.Met1Ile)	ANOS1	Jun 28, 2017	MedGen:CN517202	not provided	germline	X	8732034	CCCTCGCCCTCGCCCTCGACCCGCAGCCATGGTGCCCGGGGTGCCCGGCGCGGTCCTGACC
886039679	259837	NM_020732.3(ARID1B):c.3025+1G>A	ARID1B	Jun 20, 2016	MedGen:CN517202	not provided	germline	6	157167186	TGGCGCCCGCCATGGTGAACAGCTCGGCAGGTAACCTTGGCAGCTCTGCGCTCCTGAGCCC
121908958	21714	NM_001130978.1(DYSF):c.3137G>A (p.Arg1046His)	DYSF	Sep 13, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71570704	CACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACT
367932369	97531	NM_213649.1(SFXN4):c.471+1G>A	SFXN4	Sep 08, 2017	MedGen:C3810001,OMIM:615578,Orphanet:ORPHA391348	Combined oxidative phosphorylation deficiency 18	germline	10	119157870	TTCAACAGCATCAATGGAAACAGAAGTTACGTGAGTATTATGAGACCCAGAGAGTGTGGGG
121909126	22679	NM_003240.4(LEFTY2):c.1025G>A (p.Ser342Asn)	LEFTY2	Mar 01, 1999	MedGen:C1866091	Left-right axis malformations	germline	1	225937517	AGGGAGGCAGGACCAGGCCCCAGGTGGTCAGCCTGCCCAACATGAGGGTGCAGAAGTGCAG
748170941	181727	NM_001128425.1(MUTYH):c.309G>A (p.Trp103Ter)	MUTYH	Jun 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided	germline;unknown	1	45333452	CACAGCCTTCCGAGGGAGCCTGCTAAGCTGGTACGACCAAGAGAAACGGGACCTACCATGG
794727182	191867	NM_000276.3(OCRL):c.1714-1G>A	OCRL	Apr 13, 2015	MedGen:C0028860,OMIM:309000,Orphanet:ORPHA534,SNOMED CT:79385002	Lowe syndrome	germline	X	129575896	TGCATGTTTGTGTCTGTCTGTTATTCCCCAGTTTGTGTTTGAAAATGTGAAGTTTCGGCAA
863225139	214234	NM_001134831.1(AHI1):c.2297G>A (p.Gly766Glu)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135431284	GTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAA
80358137	70096	NM_007294.3(BRCA1):c.5153-1G>A	BRCA1	Oct 17, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	germline	17	43063374	ATGTAACCTGTCTTTTCTATGATCTCTTTAGGGGTGACCCAGTCTATTAAAGAAAGAAAAA
67330615	103201	NM_000531.5(OTC):c.757G>A (p.Ala253Thr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408915	AAGCTGTTGCTGACAAATGATCCATTGGAAGCAGCGCATGGAGGCAATGTATTAATTACAG
1060501262	397276	NM_000077.4(CDKN2A):c.-19311G>A	CDKN2A	Sep 20, 2016	MedGen:C1512419;MedGen:CN517202	Hereditary cutaneous melanoma;not provided	germline	9	21994138	TAGGGCAGCAGCCGCTTCCTAGAAGACCAGGTAGGAAAGGCCCTCGAAAAGTCCGGGGCGC
63751262	426798	NM_001171.5(ABCC6):c.4253G>A (p.Arg1418Gln)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150728	AGCTCCTGTGTCTGGCACGTGCCCTTCTCCGGAAGACCCAGATCCTCATCCTGGACGAGGC
878853257	39230	NM_006086.3(TUBB3):c.613G>A (p.Glu205Lys)	TUBB3	Feb 04, 2016	MedGen:C3279670,OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	germline	16	89935064	AACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTCCGCACCC
72653748	426854	NM_001171.5(ABCC6):c.3722G>A (p.Trp1241Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16159495	TGTCAGTGGAGCGGATGCAGGACTATGCCTGGACGCCCAAGGAGGTGATGGGCGGGAGGTG
201728948	359566	NM_000094.3(COL7A1):c.7344G>A (p.Val2448=)	COL7A1	Mar 21, 2016	MedGen:CN517202	not provided	germline	3	48570639	CCTGGGGCCACCTGGACCACCGGGGTCAGTGGTGAGTAGAGGTGCCCTAAAGCCCCACGTA
796053030	201460	NM_001165963.1(SCN1A):c.4931G>A (p.Gly1644Asp)	SCN1A	Sep 18, 2013	MedGen:CN517202	not provided	germline	2	165992344	TGTTCCGAGTGATCCGTCTTGCTAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGCAAA
121912805	32580	NM_000083.2(CLCN1):c.871G>A (p.Glu291Lys)	CLCN1	Dec 01, 1995	MedGen:C0751360,OMIM:255700,SNOMED CT:20305008	Congenital myotonia, autosomal recessive form	germline	7	143330789	TGTGCCCCTGCAGGAGTGCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGGA
797044781	195848	NM_000033.3(ABCD1):c.1781-1G>A	ABCD1	May 14, 2014	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153742986	GAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACG
121913557	29359	NM_005912.2(MC4R):c.148G>A (p.Val50Met)	MC4R	Aug 01, 2001	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60372202	TGCTACGAGCAACTTTTTGTCTCTCCTGAGGTGTTTGTGACTCTGGGTGTCATCAGCTTGT
879254952	246232	NM_000527.4(LDLR):c.1599G>A (p.Trp533Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116106	TCTCTGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAG
141179774	359096	NM_003805.4(CRADD):c.509G>A (p.Arg170His)	CRADD	Dec 19, 2016	MedGen:C3281044,OMIM:614499	Mental retardation, autosomal recessive 34	germline	12	93850180	TGGTGGAGGCCTTCATCCGTTGGCGGCAGCGCTTCGGGAAGCAGGCCACCTTCCAGAGCCT
397514047	75300	NM_181523.2(PIK3R1):c.1465G>A (p.Glu489Lys)	PIK3R1	Apr 02, 2014	MedGen:C0878684,OMIM:269880	SHORT syndrome	germline	5	68294575	ATGAAAAGGACAGCTATTGAAGCATTTAATGAAACCATAAAAATATTTGAAGAACAGTGCC
121912877	32409	NM_001844.4(COL2A1):c.908G>A (p.Gly303Asp)	COL2A1	Oct 02, 2014	MedGen:C0265279,OMIM:156550,Orphanet:ORPHA485,SNOMED CT:53974002;MedGen:C2020284,OMIM:108300	Kniest dysplasia;Stickler syndrome type 1	germline	12	47993825	CAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAA
794728266	197610	NM_000138.4(FBN1):c.7205-1G>A	FBN1	Mar 11, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48425865	TATTTCTTAATTTATATTTGTTAAATTACAGATATCGATGAATGCAAGGTTATTCACGATG
144732839	438532	NM_017807.3(OSGEP):c.839G>A (p.Arg280His)	OSGEP	Oct 26, 2017	MedGen:CN570505,OMIM:617729	GALLOWAY-MOWAT SYNDROME 3	germline	14	20447645	AGGAGATGATGGCAACAATGTGCCAGGAACGTGGAGCCCGGCTTTTTGCTACAGATGAGAG
121913040	224773	NM_001257988.1(TYMP):c.931G>A (p.Gly311Ser)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526474	CGCGCCTAAGACCCGTCCCCGCCCGCAGGGGGCGCCCTGCTCTGGCTCAGCGGACACGCGG
-1	488069	NM_000169.2(GLA):c.439G>A (p.Gly147Arg)	GLA	May 23, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101401740	GTTGGAAATAAAACCTGCGCAGGCTTCCCTGGGAGTTTTGGATACTACGACATTGATGCCC
786205163	187944	NM_173354.4(SIK1):c.1906G>A (p.Gly636Ser)	SIK1	Apr 30, 2015	MedGen:C4225360,OMIM:616341	Epileptic encephalopathy, early infantile, 30	germline	21	43417613	AGCCCCTTCCACGCCCCTGCACAGAGCCCAGGCCTGCACGGCGGCGCAGCCGGCAGCCGGG
-1	432173	NM_000444.5(PHEX):c.1753G>A (p.Gly585Arg)	PHEX	Oct 28, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22219088	GGAGTAATTGTCGGACATGAATTTACACATGGATTTGATAATAATGGTAAGTACCGGTTCA
869312967	226913	NM_005094.3(SLC27A4):c.1774G>A (p.Gly592Arg)	SLC27A4	Feb 24, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	9	128355796	CTGCGCCTCCTGCCTGAGCTGCACAAAACAGGTGTGTCCCTCCCCTGCTCCAGCTCTCGGA
863225159	214209	NM_023073.3(CPLANE1):c.7778G>A (p.Trp2593Ter)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37158258	AGCTTTCCAGTGAAATGTCAGAGAAACCTTGGTCACCCTCAATACCTCATACAGTAACAAA
777966677	188299	NM_032492.3(JAGN1):c.59G>A (p.Arg20Gln)	JAGN1	Jan 01, 2013	Human Phenotype Ontology:HP:0005541,MedGen:C1853118,Orphanet:ORPHA42738	Severe congenital neutropenia	germline	3	9890781	CCGGCACCGACGGCAGCGACTTTCAGCACCGGGAGCGCGTCGCCATGCACTACCAGATGAG
28931600	32026	NM_000165.4(GJA1):c.427G>A (p.Gly143Ser)	GJA1	Jan 01, 2004	MedGen:C1861366,OMIM:186100,Orphanet:ORPHA93404	Syndactyly type 3	germline	6	121447274	AAGAAGTTCAAGTACGGTATTGAAGAGCATGGTAAGGTGAAAATGCGAGGGGGGTTGCTGC
397517164	49119	NM_005633.3(SOS1):c.322G>A (p.Glu108Lys)	SOS1	Aug 10, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	2	39058696	AAGCGAAGAAACCCTTTATCTCTCCCAGTAGAAAAAATTCATCCTTTATTAAAGGTAATGC
121918379	28223	NM_002906.3(RDX):c.1732G>A (p.Asp578Asn)	RDX	May 01, 2007	MedGen:C1970239,OMIM:611022	Deafness, autosomal recessive 24	germline	11	110231889	ATTCGACAAGGCAATACAAAGCAGCGTATCGATGAGTTTGAAGCAATGTGAGAGCTGTTAT
121913033	31800	NM_000111.2(SLC26A3):c.1386G>A (p.Trp462Ter)	SLC26A3	Dec 01, 2002	MedGen:C0267662,OMIM:214700,Orphanet:ORPHA53689,SNOMED CT:24412005	Congenital secretory diarrhea, chloride type	germline	7	107779689	GATGCAGTTTGCTGAAATAGGCAGATTGTGGCGAAAGGACAAATATGATTGTGTAAGTAGA
587776864	38708	NM_000184.2(HBG2):c.202G>A (p.Val68Met)	HBG2	May 12, 2011	MedGen:C3151421,OMIM:613977,Orphanet:ORPHA280615	Cyanosis, transient neonatal	germline	11	5254405	AACCCCAAAGTCAAGGCACATGGCAAGAAGGTGCTGACTTCCTTGGGAGATGCCATAAAGC
121918207	16099	NM_018122.4(DARS2):c.788G>A (p.Arg263Gln)	DARS2	Feb 17, 2016	MedGen:C1970180,OMIM:611105,Orphanet:ORPHA137898;MedGen:CN230084	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	germline	1	173838207	TTCTCAATTGTAGATATTTTCAGGTTGCCCGATGTTATCGAGATGAAGGTTCAAGACCAGA
121912697	33161	NM_000341.3(SLC3A1):c.1085G>A (p.Arg362His)	SLC3A1	Apr 01, 2003	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	2	44301076	CCACGCAGGTGGGAATGCACGACATTGTCCGCAGCTTCCGGCAGACCATGGACCAATACAG
41293461	70099	NM_007294.3(BRCA1):c.5153G>A (p.Trp1718Ter)	BRCA1	Jun 29, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43063373	TGTAACCTGTCTTTTCTATGATCTCTTTAGGGGTGACCCAGTCTATTAAAGAAAGAAAAAT
72658151	193887	NM_000089.3(COL1A2):c.1971+1G>A	COL1A2	Dec 23, 2014	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta type III;Osteogenesis imperfecta with normal sclerae, dominant form	germline	7	94417832	GCTGGCATACCTGGAGGCAAGGGAGAAAAGGTACGTGTTGACCCCTATTACATATTGTTGA
1064793801	411162	NM_000425.4(L1CAM):c.1939+1G>A	L1CAM	Jun 25, 2015	MedGen:CN517202	not provided	germline	X	153867799	CTGCAGAAGACCACAATGCCCCCATTGAGAGTAAGAGGCTTGAGCTCAGTGCCACCCCACC
111033620	25059	NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp)	IL2RG	Aug 01, 1993	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006	X-linked severe combined immunodeficiency	germline	X	71110617	ACTATCTATTCTCTGAAGAAATCACTTCTGGCTGTCAGTTGCAAAAAAAGGAGATCCACCT
886043630	271652	NM_000426.3(LAMA2):c.7439+1G>A	LAMA2	May 09, 2016	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129473353	TGGTGGCCTGCCAACGCTGAGAAACTTGAGGTAATTTAGTTTATATGTAAAGCTAAGGATT
121918552	31956	NM_018947.5(CYCS):c.124G>A (p.Gly42Ser)	CYCS	Feb 01, 2014	MedGen:C2677608,OMIM:612004	Thrombocytopenia 4	germline	7	25123996	AATCTCCATGGTCTCTTTGGGCGGAAGACAGGTCAGGCCCCTGGATACTCTTACACAGCCG
193922680	33370	NM_005159.4(ACTC1):c.301G>A (p.Glu101Lys)	ACTC1	May 07, 2017	MedGen:C2677506,OMIM:612098;MedGen:C3150682;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 11;Left ventricular noncompaction 4;Primary familial hypertrophic cardiomyopathy;not provided	germline	15	34793398	ACCTTCTACAATGAGCTCCGTGTGGCTCCCGAGGAGCACCCCACCCTGCTCACAGAGGCCC
397514335	36411	NM_000060.4(BTD):c.1271G>A (p.Cys424Tyr)	BTD	Dec 07, 2015	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline	3	15645127	ATCTCCACGTCTGTTCCAATGGCCTCTGCTGTTATTTACTTTACGAGAGGCCCACCTTATC
878855095	241206	NM_024649.4(BBS1):c.416G>A (p.Trp139Ter)	BBS1	Mar 13, 2016	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	germline;unknown	11	66514662	TGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACA
28937888	19641	NM_020427.2(SLURP1):c.256G>A (p.Gly86Arg)	SLURP1	Jan 01, 2003	MedGen:C0025221,OMIM:248300,Orphanet:ORPHA87503,SNOMED CT:239069005	Acroerythrokeratoderma	germline	8	142741199	TCCTGTGTGGCCACCGACCCCGACAGCATCGGGGCCGCCCACCTGATCTTCTGCTGCTTCC
147622433	231465	NM_018136.4(ASPM):c.4422G>A (p.Trp1474Ter)	ASPM	Dec 15, 2015	MedGen:CN517202	not provided	germline	1	197104829	AGAAAATTCTGCTATTATCATACAATCATGGTATAGAATGCATAAAGAATTACGGAAATAT
121917807	33183	NM_000021.3(PSEN1):c.796G>A (p.Gly266Ser)	PSEN1	Apr 08, 2002	MedGen:C1843015	Alzheimer disease, familial, 3, with spastic paraparesis and apraxia	germline	14	73198057	CTAGATTTAGTGGCTGTTTTGTGTCCGAAAGGTCCACTTCGTATGCTGGTTGAAACAGCTC
61754278	16826	NM_000102.3(CYP17A1):c.1040G>A (p.Arg347His)	CYP17A1	Jun 10, 2015	MedGen:C0268285,OMIM:202110,SNOMED CT:124220008;MedGen:C3277849	Deficiency of steroid 17-alpha-monooxygenase;Isolated 17,20-lyase deficiency	germline	10	102832610	GTTTCAGCCGCACACCAACTATCAGTGACCGTAACCGTCTCCTCCTGCTGGAGGCCACCAT
869312344	224000	NM_000169.2(GLA):c.605G>A (p.Cys202Tyr)	GLA	Jun 15, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101400700	ATAGGACTGGCAGAAGCATTGTGTACTCCTGTGAGTGGCCTCTTTATATGTGGCCCTTTCA
1057518152	360380	NM_001271043.2(NFIX):c.583+1G>A	NFIX	Oct 14, 2016	MedGen:CN517202	not provided	germline	19	13025553	TTTATCTGGCTTACTTTGTCCACACTCCGGGTAGGTCGTTCTCAACCATTTTTCCCTCTCA
28934578	27413	NM_000546.5(TP53):c.524G>A (p.Arg175His)	TP53	Aug 24, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;MedGen:C0546837,OMIM:133239,SNOMED CT:363402007;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Malignant tumor of esophagus;Neoplasm;Neoplasm of the breast;not provided	germline;somatic;unknown	17	7675088	AGTCACAGCACATGACGGAGGTTGTGAGGCGCTGCCCCCACCATGAGCGCTGCTCAGATAG
-1	418824	NM_025114.3(CEP290):c.1623+5G>A	CEP290	May 09, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001	Leber congenital amaurosis	germline	12	88118638	CTGAAAACCAGATTCTTTTGAAAGAGGCAAGTGTGGTAGTCAGTTGATTATTTTCTTGGCT
121909054	22129	NM_005025.4(SERPINI1):c.1174G>A (p.Gly392Arg)	SERPINI1	Jun 29, 2016	MedGen:C1858680,OMIM:604218,Orphanet:ORPHA85110	Encephalopathy, familial, with neuroserpin inclusion bodies	de novo;germline	3	167825264	TGAACCAATACAGGTACAATTCTATTCATGGGACGAGTCATGCATCCTGAAACAATGAACA
363808	264850	NM_000138.4(FBN1):c.5917+1G>A	FBN1	Jan 25, 2016	MedGen:CN517202	not provided	germline	15	48445375	AGGTGGCTCCAGATGGGAGGACCTGTGTGGGTAAGTACAGGACTTAGAAAGACCTGGAAAG
1085307853	415477	NM_000548.4(TSC2):c.4006-1G>A	TSC2	Mar 28, 2017	MedGen:CN517202	not provided	germline	16	2084227	CAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAG
180177163	200602	NM_000030.2(AGXT):c.1102G>A (p.Ala368Thr)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878744	GTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGG
370215797	485830	NM_000044.4(AR):c.475G>A (p.Ala159Thr)	AR	May 09, 2005	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67545621	CTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCC
886040884	262124	NM_015247.2(CYLD):c.2108G>A (p.Arg703Lys)	CYLD	Sep 23, 2016	MedGen:C1857941,OMIM:605041,Orphanet:ORPHA79493	Spiegler-Brooke syndrome	germline	16	50787852	TTTTAAGGGTAGAACCTTTGCTAAAAATAAGGTAACCTTTAAATTGTTCTAGAAGCATTGG
-1	429128	NM_007055.3(POLR3A):c.3243-1G>A	POLR3A	Jul 26, 2016	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	germline	10	77984299	CTAGTGCCATTTTTCCTTTGCTTCTCAACAGCACTCCAATTATCACAGCACAGCTAGACAA
55989760	22774	NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys)	CYP1B1	Apr 01, 2017	Human Phenotype Ontology:HP:0000557,MedGen:C0020302,OMIM:231300,Orphanet:ORPHA98976	Buphthalmos	germline	2	38071195	AACCTGCCCTATGTCCTGGCCTTCCTTTATGAAGCCATGCGCTTCTCCAGCTTTGTGCCTG
773814837	438524	NM_033550.3(TP53RK):c.125G>A (p.Gly42Asp)	TP53RK	Oct 27, 2017	MedGen:CN570506,OMIM:617730	GALLOWAY-MOWAT SYNDROME 4	germline	20	46689290	TCTTGAGCGGCCTGGAGCTGGTGAAGCAGGGTGCCGAGGCGCGCGTGTTCCGTGGCCGCTT
55778939	427073	NM_001171.5(ABCC6):c.346-6G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16219688	CCTCCCCTAAGGGGCCTCCCTGACTTTCCCGTCCAGAGCTTCGCAGTGTTCCTGATTCACA
886041912	264179	NM_025132.3(WDR19):c.2363+1G>A	WDR19	May 30, 2017	MedGen:CN517202	not provided	germline	4	39234876	AAAAGAATATGCTATTCAGCTTGAATTCGCGTAAGTCTTTGTTTTTATACATTTCAGTCAG
749804502	214849	NM_016218.3(POLK):c.461G>A (p.Gly154Glu)	POLK	Feb 05, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75573790	GGAGATTTGGTGTTCGTGCAGCCATGCCAGGATTTATTGCTAAGAGGCTGTGCCCACAACT
199847983	39576	NM_000153.3(GALC):c.857G>A (p.Gly286Asp)	GALC	Apr 26, 2017	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005;MedGen:CN517202	Galactosylceramide beta-galactosidase deficiency;not provided	germline;unknown	14	87968386	TTAGCACTTTAAATAGTGACATGGGTGCAGGCTGCTGGGGTCGCATTTTAAATCAGAATTA
587779472	106911	NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008090	CTGGCAAAGATGGAACCAGTGGACATCCAGGTCCCATTGGACCACCAGGGCCTCGAGGTAA
1057519306	361824	NM_001128608.1(MAPKBP1):c.2444-1G>A	MAPKBP1	May 22, 2017	MedGen:CN781300,OMIM:617271	Nephronophthisis 20	germline	15	41819594	ACACTTCCTCTGACTGCCTGTTTCTGTCTAGCCTCGGTCCCCAGCCCAGCTTTGCCCCGAA
1064792873	224779	NM_001257989.1(TYMP):c.1175G>A (p.Gly392Asp)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526141	GCCCGCGCCTCTCAGCCCCTCTCCCCGCAGGCACCGTGGAGCTGGTCCGGGCGCTGCCGCT
786205870	190060	NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr)	COL6A3	Jun 04, 2015	MedGen:C4225336,OMIM:616411,Orphanet:ORPHA464440	Dystonia 27	germline	2	237344358	ACAAGGCAGGAAGACCGGCAGCTCATCAACGCTTTGCAGGTCTGTGCTCTGTGCGTGCTGT
794726824	187854	NM_001165963.1(SCN1A):c.965-1G>A	SCN1A	Jul 11, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	germline;inherited	2	166048950	GTTCATCATACGACTTTCTTTTTTCAAACAGGATATCATTATTTCCTGGAGGGTTTTTTAG
587779648	107131	NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008036	GGCATTGTGATGTCATGATACTTTCTTAGGGACCTGTTGGACCCAGTGGACCTCCTGGCAA
879253777	244149	NM_001127660.1(MFN2):c.730G>A (p.Val244Met)	MFN2	Aug 18, 2015	MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947	Charcot-Marie-Tooth disease, type 2A2A	de novo	1	11999009	TTTATCTAGGAAAAGCACTTCTTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCT
121434578	31255	NM_000663.4(ABAT):c.659G>A (p.Arg220Lys)	ABAT	Jan 01, 2014	MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007	Gamma-aminobutyric acid transaminase deficiency	germline	16	8768248	TCCTCTCCTTCATGGGCGCGTTCCATGGGAGGACCATGGGTAAGGAGGGACCATTGCGCTC
104886163	35835	NM_000495.4(COL4A5):c.2165G>A (p.Gly722Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108602982	ATCATTTTACAGGCTTTCCTGGAATTCCAGGACCTCCAGGAGCACCTGGGACACCTGGAAG
118204112	16510	NM_000190.3(HMBS):c.748G>A (p.Glu250Lys)	HMBS	Jan 01, 1994	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119092500	GATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGC
727505361	178316	NM_024537.3(CARS2):c.655G>A (p.Ala219Thr)	CARS2	Oct 21, 2015	MedGen:C4225251,OMIM:616672,Orphanet:ORPHA477774;MedGen:CN517202	Combined oxidative phosphorylation deficiency 27;not provided	germline	13	110683051	GGCGTGGTCCCTGGTCCAGTCGGAGAGCCAGGTGGGTTGGCCGGGCTCAGCCCTGTGGGTC
121908009	18862	NM_000456.2(SUOX):c.1589G>A (p.Gly530Asp)	SUOX	Dec 26, 1997	MedGen:CN068763	Sulfite oxidase deficiency, isolated	germline	12	56004978	ACACCGTGGCCCCAATCTGGAACCTGCGAGGTGTTCTCAGCAATGCCTGGCATCGTGTCCA
111996685	200530	NM_000030.2(AGXT):c.680+1G>A	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240874063	CTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGC
193919336	19032	NM_001243766.1(POMGNT1):c.932G>A (p.Arg311Gln)	POMGNT1	Oct 01, 2006	na;MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3;Muscle eye brain disease	germline	1	46193873	ATGTGCCTGTGGCTGTCATTGCAGGGAACCGACCCAATTACCTGTACAGGTAAGCCTGGGA
796052088	200658	NM_138413.3(HOGA1):c.227G>A (p.Gly76Asp)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97598790	CTGTGTCTCTTGCAGGCTTCGTGGTCCAGGGCTCCAATGGCGAGTTTCCTTTCCTGACCAG
397515786	51497	NM_000138.4(FBN1):c.3164G>A (p.Cys1055Tyr)	FBN1	Aug 11, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48488412	GAAACACCATTGGCAGCTTTAAGTGCAGGTGTGACAGCGGCTTTGCTCTTGATTCTGAAGA
767178508	358131	NM_004004.5(GJB2):c.439G>A (p.Glu147Lys)	GJB2	Apr 13, 2017	MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:CN517202;MedGen:CN169374	Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;not provided;not specified	germline;unknown	13	20189143	ACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGCCTTCATGTACGTCTTCTATGTCA
61753185	18815	NM_000372.4(TYR):c.230G>A (p.Arg77Gln)	TYR	Mar 16, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178183	CTCAATTTCCCTTCACAGGGGTGGATGACCGGGAGTCGTGGCCTTCCGTCTTTTATAATAG
767006508	359114	NM_013247.4(HTRA2):c.1211G>A (p.Arg404Gln)	HTRA2	Dec 17, 2016	MedGen:C4310650,OMIM:617248	3-methylglutaconic aciduria, type VIII	germline	2	74532714	ATAAAGTCATCCTGGGCTCCCCTGCACACCGGTGAGGGAGAGGCTGCAGTGTGATATGGGG
781050795	38788	NM_001111035.2(ACP5):c.325G>A (p.Gly109Arg)	ACP5	Feb 01, 2011	MedGen:C1842763,OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	germline	19	11576780	CTTCGCAAAGTGCCCTGGTACGTGCTAGCCGGAAACCATGACCACCTTGGCAATGTCTCTG
121918729	27536	NM_000359.2(TGM1):c.281G>A (p.Gly94Asp)	TGM1	Apr 01, 2001	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24262072	GCTCAGACTCCCGCCGGCCTGTATCCCGGGGCAGCGGTGTCAATGCAGCTGGAGATGGCAC
-1	447750	NM_020451.2(SELENON):c.665G>A (p.Trp222Ter)	SELENON	Feb 24, 2017	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	Eichsfeld type congenital muscular dystrophy	germline	1	25808707	CGCCAGGCCAGGAGCTGGGTGAGCCCTGGTGGATCATCCCCAGTGAGCTGAGCATGTTCAC
121434351	17054	NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln)	AHI1	Dec 05, 2016	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C1837713,OMIM:608629	Joubert syndrome;Joubert syndrome 3	germline;unknown	6	135433125	TAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTC
121908794	57843	NM_000492.3(CFTR):c.1680-1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117590352	AAATGTAATTTAATTTCCATTTTCTTTTTAGAGCAGTATACAAAGATGCTGATTTGTATTT
797044960	204589	NM_005982.3(SIX1):c.373G>A (p.Glu125Lys)	SIX1	Sep 01, 2011	MedGen:C1854594,OMIM:605192	Deafness, autosomal dominant 23	germline	14	60648817	TTTCCACTGCCGCGCACCATCTGGGACGGCGAGGAGACCAGCTACTGCTTCAAGGAGAAGT
28936675	23916	NM_000193.3(SHH):c.91G>A (p.Gly31Arg)	SHH	Aug 29, 2013	MedGen:C1840529,OMIM:142945	Holoprosencephaly 3	germline	7	155812032	GGACTGGCGTGCGGACCGGGCAGGGGGTTCGGGAAGAGGAGGCACCCCAAAAAGCTGACCC
267608179	186750	NM_000466.2(PEX1):c.2926+1G>A	PEX1	Mar 25, 2016	MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED CT:88469006	Zellweger syndrome	germline;unknown	7	92494486	CTCAGTTGGATGGAGTAGAAGGCTTACAGGGTAATAATTATAAATACAGAAATAGAATGTT
387906808	39150	NM_013416.3(NCF4):c.314G>A (p.Arg105Gln)	NCF4	Feb 11, 2016	MedGen:C0018203,Orphanet:ORPHA379;MedGen:C3151409,OMIM:613960	Chronic granulomatous disease;Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III	germline	22	36867434	TGGGTGTGAAACAGGAGATCGCCGAGATGCGGATACCTGCCCTCAACGCCTACATGAAGGT
76713772	22151	NM_000492.3(CFTR):c.1585-1G>A	CFTR	May 11, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202;MedGen:CN169374	Cystic fibrosis;not provided;not specified	germline;unknown	7	117587738	TGACTCTCTAATTTTCTATTTTTGGTAATAGGACATCTCCAAGTTTGCAGAGAAAGACAAT
119489101	20462	NM_016938.4(EFEMP2):c.169G>A (p.Glu57Lys)	EFEMP2	May 12, 2011	MedGen:C3280798,OMIM:614437;MedGen:CN033664,OMIM:219100	Autosomal recessive cutis laxa type 1B;Autosomal recessive cutis laxa type IA	germline	11	65871355	CCCAGCAGGCCCCTCTCTGCAGATGTCAACGAGTGTCTGACCATCCCTGAGGCCTGCAAGG
267606773	15224	NM_001385.2(DPYS):c.1303G>A (p.Gly435Arg)	DPYS	Sep 01, 1998	MedGen:C0342803,OMIM:222748,SNOMED CT:238014002	Dihydropyrimidinase deficiency	germline	8	104392924	TTCAACATTTTCGAGGGCATGGTTTGCCACGGGGTGCCCCTTGTGACTATTTCAAGAGGCA
397515794	51510	NM_000138.4(FBN1):c.368G>A (p.Cys123Tyr)	FBN1	Jun 03, 2011	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48600213	TTTTTCAAGTACAACACTGCAATATTCGCTGTATGAATGGAGGTAGCTGCAGTGACGATCA
80359148	131733	NM_000059.3(BRCA2):c.8969G>A (p.Trp2990Ter)	BRCA2	May 12, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	germline	13	32379765	TCTTTCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTT
77939446	28972	NM_020975.4(RET):c.1826G>A (p.Cys609Tyr)	RET	Jul 26, 2017	MedGen:C1833921,OMIM:155240,Orphanet:ORPHA99361;MedGen:C1833921,OMIM:155240,Orphanet:ORPHA99361;MedGen:C0027672,SNOMED CT:699346009;na;MedGen:C4016286;Human Phenotype Ontology:HP:0002865,MeSH:C536914,MedGen:C0238462,Orphanet:ORPHA1332,SNOMED CT:255032005;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN073359,Orphanet:ORPHA653,SNOMED CT:61808009;MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009;MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009;MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001;MedGen:C1970712,OMIM:610755,Orphanet:ORPHA276152;MedGen:CN517202;MedGen:CN169374	Familial medullary thyroid carcinoma;Familial medullary thyroid carcinoma;Hereditary cancer-predisposing syndrome;MEN2A and FMTC;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 4;not provided;not specified	germline;somatic;unknown	10	43113622	CCCGGGGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTT
786204481	186643	NM_000642.2(AGL):c.2309-1G>A	AGL	Aug 13, 2017	MedGen:C1968739;MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease IIIa;Glycogen storage disease type III	germline;unknown	1	99884119	ATTTTGTTAAAATGTTTTTATGTATTCCTAGGCAAAATTGAAGAAGTAGTTCTTGAAGCTA
387906517	27665	NM_007313.2(ABL1):c.763G>A (p.Glu255Lys)	ABL1	Dec 26, 2014	Human Phenotype Ontology:HP:0005506,MeSH:D015464,MedGen:C0023473,OMIM:608232,Orphanet:ORPHA521;MedGen:C4016396	Chronic myeloid leukemia;Leukemia, Philadelphia chromosome-positive, resistant to imatinib	germline;somatic	9	130862919	TATGGTGTGTCCCCCAACTACGACAAGTGGGAGATGGAACGCACGGACATCACCATGAAGC
761242509	260230	NM_000022.3(ADA):c.478+1G>A	ADA	Mar 28, 2017	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277;MedGen:CN517202	Severe combined immunodeficiency due to ADA deficiency;not provided	germline	20	44625568	CCATCCTGTGCTGCATGCGCCACCAGCCCAGTGAGTAGGATCACCGCCCTGCCCAGGGCCG
886042604	267583	NM_004006.2(DMD):c.93+1G>A	DMD	Jul 31, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	33020138	ACAAAATGGGTAAATGCACAATTTTCTAAGGTAAGAATGGTTTGTTACTTTACTTTTAAGA
397509373	32252	NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del)	COL3A1	Dec 01, 1991	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004365	AGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTATAGTCATTTTCCACTACACTCTTC
1060502636	404248	NM_004006.2(DMD):c.2202G>A (p.Trp734Ter)	DMD	Aug 24, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32518098	GGATGTTGATATAACTGAACTTCACAGCTGGATTACTCGCTCAGAAGCTGTGTTGCAGAGT
387906548	31481	NM_000138.4(FBN1):c.4087+1G>A	FBN1	Apr 01, 1995	MedGen:C4016054	Marfan syndrome, neonatal	germline	15	48474527	GGTGGATTGGAGATGGCATTAAGTGCACTGGTGAGTAGGAAAGTAACAGAGGTTGCTTATC
104894308	21952	NM_003002.3(SDHD):c.129G>A (p.Trp43Ter)	SDHD	Aug 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1868633,OMIM:168000	Hereditary cancer-predisposing syndrome;Paragangliomas 1	germline	11	112087933	ATTTCTTCAGGACCGACCTATCCCAGAATGGTGTGGAGTGCAGCACATACACTTGTCACCG
727502931	19957	NM_022124.5(CDH23):c.7362+5G>A	CDH23	Sep 25, 2013	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71799634	GCAAGTTTGCCATCAACCCCACCACGGTGAGCAGTGATGGAGGGCCTGGAATTTGGAAGTG
267606742	32321	NM_000089.3(COL1A2):c.3269G>A (p.Gly1090Asp)	COL1A2	Mar 01, 2009	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	germline	7	94427628	CCTCTCCTATCTCACTTTCACCTTTGCAGGGCCCCCCTGGTCCCCCTGGCCCTCCTGGACC
672601314	171726	NM_000492.3(CFTR):c.3963+1G>A	CFTR	Oct 01, 2013	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	unknown	7	117652932	GATCAAGAAATATGGAAAGTTGCAGATGAGGTAAGGCTGCTAACTGAAATGATTTTGAAAG
61752419	105107	NM_000350.2(ABCA4):c.3303G>A (p.Trp1101Ter)	ABCA4	Jan 01, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:CN517202	Retinal dystrophy;not provided	unknown	1	94042786	GGTGGACCCTTACTCGAGACGCTCAATCTGGGATCTGCTCCTGAAGTATCGCTCAGGTAAC
886043989	272962	NM_004006.2(DMD):c.9563+1G>A	DMD	Jan 24, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31209497	TCTGAACTGGCTGCTGAATGTTTATGATACGTACGTATGGCATGTTTTTATTTCCCGGGCT
398122944	76977	NM_020989.3(CRYGC):c.471G>A (p.Trp157Ter)	CRYGC	Jan 01, 2012	MedGen:C1852438,OMIM:604307	Cataract, coppock-like	germline	2	208128257	GCCCCAAGAGTACAGGCGGTGCCAGGACTGGGGGGCCATGGATGCTAAGGCAGGCTCTTTG
281874755	35623	NM_000495.4(COL4A5):c.538G>A (p.Gly180Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108573646	AAGGGTAATCCAGGATATCCAGGTCCTCCTGGAATACAAGTAAGTATCCAGTGATTTTCTT
267607213	18780	NM_000527.4(LDLR):c.131G>A (p.Trp44Ter)	LDLR	Apr 12, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11100286	GCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGA
387906828	39189	NM_004153.3(ORC1):c.2159G>A (p.Arg720Gln)	ORC1	Feb 27, 2011	MedGen:CN030358,OMIM:224690	Meier-Gorlin syndrome 1	germline	1	52375574	TGTAGGTAGCAGCACTGTCTGGAGATGCACGACGGTGCCTGGACATCTGCAGGCGTGCCAC
138682654	211035	NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)	WFS1	Jun 05, 2014	MedGen:CN517202	not provided	germline	4	6291367	CTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTT
753909969	275318	NM_000128.3(F11):c.1288G>A (p.Ala430Thr)	F11	Sep 01, 2016	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	germline	4	186284244	ATCATTGGAAACCAGTGGATATTAACAGCCGCTCACTGTTTCTATGGGTCAGTACCACGGC
764826805	215108	NM_000035.3(ALDOB):c.324+1G>A	ALDOB	Aug 01, 2016	Human Phenotype Ontology:HP:0005973,MedGen:C0016751,OMIM:229600,Orphanet:ORPHA469,SNOMED CT:20052008	Hereditary fructosuria	germline;unknown	9	101429754	AAGGAAAAGGGGATCGTGGTGGGAATCAAGGTGAACACCTCCATTCACACCTCACTTCTGC
63751001	426862	NM_001171.5(ABCC6):c.3662G>A (p.Arg1221His)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16159555	AGGTGACCCAGACACTGCAGTGGGTTGTTCGCAACTGGACAGACCTAGAGAACAGCATCGT
28999971	27585	NM_001252634.1(THRB):c.1040G>A (p.Gly347Glu)	THRB	May 07, 2015	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127603	CACGGGGCCAGCTGAAAAATGGGGGTCTTGGGGTGGTGTCAGACGCCATCTTTGACCTGGG
1064795334	406855	NM_001069.2(TUBB2A):c.292G>A (p.Gly98Arg)	TUBB2A	Jun 29, 2017	MedGen:CN517202	not provided	germline	6	3154909	ACTTTCCCTCTGGCAGGCCAGAGTGGAGCCGGGAATAACTGGGCCAAGGGCCACTACACAG
113485686	32239	NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg)	COL3A1	Nov 01, 1991	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189001554	CTCTTTTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTA
5030802	52767	NM_000551.3(VHL):c.208G>A (p.Glu70Lys)	VHL	Oct 09, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	germline	3	10142055	CGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCA
863223435	210446	NM_000071.2(CBS):c.253G>A (p.Gly85Arg)	CBS	Dec 07, 2016	MedGen:CN517202	not provided	germline	21	43068572	AAAATCTTGCCAGATATTCTGAAGAAAATCGGGGACACCCCTATGGTCAGAATCAACAAGA
879255622	247491	NM_007118.3(TRIO):c.4128G>A (p.Trp1376Ter)	TRIO	Mar 27, 2017	MedGen:C4310740,OMIM:617061,Orphanet:ORPHA476126	Mental retardation, autosomal dominant 44	germline	5	14390300	AGAGGATGTTGGACATTGTTTTGTTACTTGGGTAATGAAACCTCAACCATTTGTTCTCTCC
431905510	51365	NM_005984.4(SLC25A1):c.845G>A (p.Arg282His)	SLC25A1	Apr 29, 2013	MedGen:C2746066,OMIM:615182,Orphanet:ORPHA19	Combined d-2- and l-2-hydroxyglutaric aciduria	germline	22	19176221	CACCCAGATTCTACAAGGGCACTGTCCCCCGCCTGGGCCGGGTCTGCCTGGATGTGGCCAT
764754259	420581	NM_000321.2(RB1):c.2489+1G>A	RB1	Oct 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	13	48465369	AACACCAACAAAAATGACTCCAAGATCAAGGTGTGTGTTTTCTCTTTAGGGAAGTAGTAAA
104893727	20971	NM_006580.3(CLDN16):c.698G>A (p.Gly233Asp)	CLDN16	Jul 02, 1999	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190408419	ATATATTTCTTGGTATCCAATATAAATTTGGTTGGTCCTGTTGGCTCGGAATGGCTGGGTC
587776814	29592	NM_000228.2(LAMB3):c.629-1G>A	LAMB3	Jul 01, 2008	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	somatic	1	209632777	CTCTTCCCTCCTTGCTGTTTGGCCCTCTCAGAGGTGGGGGAGATCACAAACTTGAGAGTCA
72554338	26040	NM_000531.5(OTC):c.259G>A (p.Glu87Lys)	OTC	Jul 01, 1992	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38369838	TTGCAAGGGAAGTCCTTAGGCATGATTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTA
1057516658	357528	NM_000441.1(SLC26A4):c.249G>A (p.Trp83Ter)	SLC26A4	Mar 15, 2016	MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Pendred's syndrome	unknown	7	107663380	GTGGCTCCCCAAATACCGAGTCAAGGAATGGCTGCTTAGTGACGTCATTTCGGGAGTTAGT
35887507	30115	NM_000519.3(HBD):c.113G>A (p.Trp38Ter)	HBD	Jan 01, 1994	MedGen:CN070217	Delta-0-thalassemia	germline	11	5234193	CTACCCTCAGATTACTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGA
104886101	35727	NM_000495.4(COL4A5):c.1226G>A (p.Gly409Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591118	CTGGATTTCCTGGAGAAAGGGGTCAGAAAGGTGATGAAGGACCACCTGGAATTTCCATTCC
-1	445983	NM_005359.5(SMAD4):c.1140-1G>A	SMAD4	Aug 09, 2017	MedGen:CN517202	not provided	germline	18	51067018	GATAAAATGTAATTTCTTTTTTCTTCCTAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGA
387906429	25136	NM_000132.3(F8):c.601+1632G>A	F8	May 01, 1988	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154991304	AACCTGAATTAAAACATAACTGGAGACTTCGAAGTGAGTACTATGTTGCAAAGAGAGCTCC
398124044	100660	NM_004006.2(DMD):c.7309+1G>A	DMD	Dec 06, 2012	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31819974	TAGCTCCTGGACTGACCACTATTGGAGCCTGTAAGTATACTGGATCCCATTCTCTTTGGCT
587776787	28128	NM_000321.2(RB1):c.2211G>A (p.Glu737=)	RB1	Oct 01, 1997	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	germline	13	48463835	ATACAAGGATCTTCCTCATGCTGTTCAGGAGGTAGGTAATTTTCCATAGTAAGTTTTTTTG
121434589	29176	NM_017534.5(MYH2):c.2116G>A (p.Glu706Lys)	MYH2	Sep 01, 2005	MedGen:C1854106,OMIM:605637	Inclusion body myopathy 3	germline	17	10535137	CTCCACCAGCTGAGGTGTAACGGTGTGCTGGAAGGCATCCGCATCTGTAGGAAAGGATTTC
770528538	359139	NM_014026.5(DCPS):c.636+1G>A	DCPS	Jul 10, 2015	MedGen:C4085595,OMIM:616459	AL-RAQAD SYNDROME	germline	11	126338400	ATCCCTGACCTCAAGTGGAACCAACAGCAGGTAAAGGTTTCTGGCTGGAATGTCCTGATCT
1131690860	420535	NM_000321.2(RB1):c.940-1G>A	RB1	Apr 16, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48367493	GGATAATTGTCAGTGACTTTTTTCTTTCAAGGTTGAAAATCTTTCTAAACGATACGAAGAA
312262899	49414	NM_000095.2(COMP):c.1747G>A (p.Glu583Lys)	COMP	Feb 28, 2013	MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	not provided	19	18785063	GGTTACACTGCCTTCAATGGCGTGGACTTCGAGGGCACGTTCCATGTGAACACGGTCACGG
132630290	26126	NM_001128834.2(PLP1):c.3G>A (p.Met1Ile)	PLP1	Mar 01, 1996	MedGen:C4016484	Pelizaeus-Merzbacher disease, mild	germline	X	103776998	CTACAATTGGAGTCAGAGTCCCAAAGACATGGGTAAGTTTCAAAAACTTTAGCATTGAAGA
1057520667	373295	NM_003482.3(KMT2D):c.16522-1G>A	KMT2D	May 01, 2015	MedGen:CN517202	not provided	germline	12	49021873	TAGCATTGATTCTGCCCTCTTCTCTTTTCAGCTAACCTATGACTATCAGTTTGATTTTGAG
-1	486866	NM_001005741.2(GBA):c.1312G>A (p.Asp438Asn)	GBA	Aug 29, 2016	MedGen:C0017205,Orphanet:ORPHA355	Gaucher disease	germline	1	155235757	GGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCCATCATTGTAGACATCACCAAGG
80356686	33897	NM_000083.2(CLCN1):c.577G>A (p.Glu193Lys)	CLCN1	Apr 12, 2011	MedGen:C0027127,Orphanet:ORPHA206973	Myotonia congenita	not provided	7	143321729	CTTTCAACGCTTTTAGGCTCTGGAATCCCCGAAATGAAGACAATACTTCGTGGGGTTGTCC
863224984	213877	NM_004006.2(DMD):c.1683G>A (p.Trp561Ter)	DMD	Jul 21, 2014	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32573766	GGTTCTTTTACAAGACATCCTTCTCAAATGGCAACGTCTTACTGAAGAACAGGTGTGTCAT
137852667	24153	NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)	IGHMBP2	Jun 23, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C4015349,OMIM:616155,Orphanet:ORPHA443073;MedGen:C1858517,OMIM:604320,Orphanet:ORPHA98920;MedGen:C0043116,OMIM:253300,Orphanet:ORPHA83330,SNOMED CT:64383006	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy, distal, autosomal recessive, 1;Werdnig-Hoffmann disease	germline	11	68935404	CGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCT
886039348	259688	NM_022336.3(EDAR):c.1121G>A (p.Trp374Ter)	EDAR	Mar 25, 2015	MedGen:CN517202	not provided	germline	2	108897133	ACAACTCTGAGAAGGCTGTTGTGAAAACGTGGCGCCACCTCGCCGAGAGCTTCGGCCTGAA
-1	481499	NM_130466.3(UBE3B):c.2568+1G>A	UBE3B	Nov 08, 2017	MedGen:C1855663,OMIM:244450,Orphanet:ORPHA2707	Kaufman oculocerebrofacial syndrome	paternal	12	109524504	CTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTC
121964985	27018	NM_000481.3(AMT):c.959G>A (p.Arg320His)	AMT	Mar 09, 2017	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49417892	CCCAGCTGAAGGGCAGGGTGCAGCGGAGGCGTGTGGGGTTGATGTGTGAGGGGGCCCCCAT
794728237	197674	NM_000138.4(FBN1):c.5699G>A (p.Cys1900Tyr)	FBN1	Aug 11, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48446795	TAGACATAAATGAATGTGAAAGAGATGCCTGTGGGAATGGAACTTGCCGGAACACAATTGG
886044771	265324	NM_000117.2(EMD):c.3G>A (p.Met1Ile)	EMD	Jun 26, 2015	MedGen:C0751337,OMIM:310300;MedGen:CN517202	Emery-Dreifuss muscular dystrophy 1, X-linked;not provided	germline	X	154379487	CAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAG
55851803	69067	NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr)	BRCA1	Nov 09, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43106477	AGAAGAAAGGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGTATATAAT
794728252	197640	NM_000138.4(FBN1):c.6496G>A (p.Asp2166Asn)	FBN1	Oct 25, 2012	MedGen:CN517202	not provided	germline	15	48436961	GGTTATATTCTAGCAGGGAATGAATGTGTAGGTGAGTAATAAGTTTTCTTCCATAGGAACT
754449549	201822	NM_001182.4(ALDH7A1):c.1004G>A (p.Arg335Gln)	ALDH7A1	Apr 30, 2013	MedGen:CN517202	not provided	germline	5	126559244	CAGCTGGCCAGAGGTGTACCACTGCGAGGCGACTGGTGAGTATATCTGCATAGGCCCGATT
104886370	35911	NM_000495.4(COL4A5):c.2840G>A (p.Gly947Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108622748	CAGGAGAAAAAGGTAGTAAAGGAGAGCCTGGCCTTCCAGGCCCTCCTGGACCAATGGATCC
377767387	47345	NM_005359.5(SMAD4):c.1447+1G>A	SMAD4	Dec 04, 2012	MedGen:C1832942,OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	not provided	18	51076777	GATCAGTAGGTGGAATAGCTCCAGCTATCAGTAAGTATGCTTTTCATTCTTTTTTAAAGGT
1799963	28349	NM_000506.4(F2):c.*97G>A	F2	Jul 14, 2017	na;MedGen:C3280672,OMIM:614390;MedGen:C0020640,OMIM:613679,Orphanet:ORPHA325,SNOMED CT:73975000;MedGen:C0398623,OMIM:188050,SNOMED CT:234467004	Ischemic stroke, susceptibility to;Pregnancy loss, recurrent, susceptibility to, 2;Prothrombin deficiency, congenital;Thrombophilia	germline;unknown	11	46739505	CTATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGCTCCCAGTGCTATTCATGGG
63751119	96418	NM_000251.2(MSH2):c.2251G>A (p.Gly751Arg)	MSH2	Jul 06, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47478312	AAAGATTCATTAATAATCATAGATGAATTGGGAAGAGGAACTTCTACCTACGATGGATTTG
137852847	17706	NM_182760.3(SUMF1):c.1046G>A (p.Arg349Gln)	SUMF1	May 16, 2003	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003	Multiple sulfatase deficiency	germline	3	4362223	CTTATTGTTACAGGTATCGCTGTGCTGCTCGGAGCCAGAACACACCTGATAGCTCTGCTTC
886043700	272208	NM_001848.2(COL6A1):c.1002+1G>A	COL6A1	May 09, 2016	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45990423	CGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAG
72466485	23445	NM_004082.4(DCTN1):c.211G>A (p.Gly71Arg)	DCTN1	Sep 30, 2010	MedGen:C1868594,OMIM:168605,Orphanet:ORPHA178509	Perry syndrome	germline	2	74378068	ATTCTGGATGAAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAGTACTTCACTT
122468178	26443	NM_015884.3(MBTPS2):c.1286G>A (p.Arg429His)	MBTPS2	Jan 24, 2017	Gene:266959,MedGen:C1839988,OMIM:308205,Orphanet:ORPHA2273;MedGen:CN517202	IFAP syndrome with or without BRESHECK syndrome;not provided	germline	X	21880921	TTTCAGTGAGCATCACCAGTTTTATCCCACGTTTTAACTTTCTAAGCATAGATCTGCCAGT
749544042	28717	NM_000478.5(ALPL):c.648+1G>A	ALPL	Oct 15, 2001	MedGen:C2673477,Orphanet:ORPHA247623	Hypophosphatasia, perinatal lethal	germline	1	21564217	CAGCTCATGCATAACATCAGGGACATTGACGTGAGTGCTCGGGGGCAGCCGGGCAGGGACG
-1	434111	NM_205850.2(SLC24A5):c.521G>A (p.Arg174Lys)	SLC24A5	Sep 27, 2017	MedGen:CN514775	Albinism, oculocutaneous, type VI	germline	15	48134915	TCTCAACACTATCATGTTGGCCCCTATTCAGAGACTGTGCAGCGTACACAATTAGTGCAGC
-1	481863	NM_000494.3(COL17A1):c.1424G>A (p.Trp475Ter)	COL17A1	Oct 06, 2017	MedGen:CN517202	not provided	germline	10	104057016	GGAAGTGGCTGCTGGGCCTGCTGCTCACCTGGCTGCTACTCCTGGGGCTGCTCTTCGGCCT
886037850	247547	NM_003041.3(SLC5A2):c.265G>A (p.Ala89Thr)	SLC5A2	Aug 02, 2016	Gene:2759,MedGen:C0017980,OMIM:233100,Orphanet:ORPHA69076,SNOMED CT:226309007	Familial renal glucosuria	germline	16	31484885	GGCCACTTTGTGGGCCTGGCAGGGACTGGCGCTGCAAGTGGCTTGGCTGTTGCTGGATTCG
137852415	25260	NM_000132.3(F8):c.1630G>A (p.Asp544Asn)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154957079	GTGACTGTAGAAGATGGGCCAACTAAATCAGATCCTCGGTGCCTGACCCGCTATTACTCTA
886044258	274005	NM_001130987.1(DYSF):c.1576+1G>A	DYSF	Aug 23, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71539240	AAATCTCTGCCCCTGGAGGAGAAATAGAAGGTATGTTCCCTCTTCGTTCTGCCCTTTGACC
111033312	52685	NM_000441.1(SLC26A4):c.1614+1G>A	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN517202	Enlarged vestibular aqueduct;Enlarged vestibular aqueduct;Pendred's syndrome;not provided	germline	7	107698112	ATCTACAAAAGTACCAAGAATTACAAAAACGTAAGTACCTTTGTGAGACATTTGCTGGACT
267608670	40100	NM_007055.3(POLR3A):c.2015G>A (p.Gly672Glu)	POLR3A	Aug 02, 2012	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	germline	10	78007761	ATATTTTTTACATTTTGCTGCGAGACTGGGGACAGAATGAAGCTGCAGATGCCATGTCACG
606231324	136674	NM_000257.3(MYH7):c.1573G>A (p.Glu525Lys)	MYH7	Nov 08, 2017	Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;MedGen:C1834481,OMIM:613426;MedGen:C0264789,SNOMED CT:35728003;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;Human Phenotype Ontology:HP:0011664,MedGen:C4021133	Cardiomyopathy;Dilated cardiomyopathy 1S;Familial cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy	de novo;germline	14	23428505	ATGGACCTGCAGGCCTGCATTGACCTCATCGAGAAGGTGCCTCTTTGGCCTTACCACCTGA
121434378	17330	NM_015046.5(SETX):c.6407G>A (p.Arg2136His)	SETX	Jun 01, 2004	MedGen:C1865409,OMIM:602433,Orphanet:ORPHA357043	Amyotrophic lateral sclerosis type 4	germline	9	132283403	TTTAACCTTTGTTCTCTTAGGTTCAAGGACGCCCACAGAAAACACAGAGTATCATCATCTT
761612652	404682	NM_016532.3(INPP5K):c.805G>A (p.Asp269Asn)	INPP5K	Apr 04, 2017	MedGen:CN241833,OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	germline	17	1498094	AGTGAGAAAAAACGCAAGCCTGCATGGACCGATCGCATCCTGTGGAGGCTGAAGCGGCAGC
199422268	22366	NR_001566.1(TERC):n.98G>A	TERC	May 10, 2012	MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000;MedGen:C3553622,OMIM:614743	Idiopathic fibrosing alveolitis, chronic form;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	germline	3	169764963	TAGGCGCCGTGCTTTTGCTCCCCGCGCGCTGTTTTTCTCGCTGACTTTCAGCGGGCGGAAA
132630311	26073	NM_001399.4(EDA):c.187G>A (p.Glu63Lys)	EDA	Feb 01, 1998	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005	Hypohidrotic X-linked ectodermal dysplasia	germline	X	69616495	CTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTG
367902696	36343	NM_000060.4(BTD):c.443G>A (p.Arg148His)	BTD	Apr 25, 2017	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;not provided	germline	3	15642041	TCAGGTGGAACCCATGCCTGGAGCCTCACCGCTTCAATGACACAGAGGTGATTCCTGCCTT
752130338	362099	NM_020247.4(COQ8A):c.1844G>A (p.Gly615Asp)	COQ8A	Jun 07, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4	germline	1	226986637	AAACCTACTCCCTGCACAGGAAGATGGGGGGCTCCTTCCTCATCTGCTCCAAGCTGAAGGC
104894568	27045	NM_000151.3(G6PC):c.370G>A (p.Ala124Thr)	G6PC	May 01, 1996	MedGen:C2919796,OMIM:232200	Glycogen storage disease type 1A	germline	17	42907552	GGGAGCCCCTCTGGCCATGCCATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTA
1057517788	446611	NM_000444.5(PHEX):c.436+1G>A	PHEX	Aug 04, 2017	MedGen:CN517202	not provided	germline	X	22076475	AAATCCTTTATTCATCCTGCATGAATGAGAGTGAGTGATGAAGAAAACTAAATAAAATATT
121909673	31247	NM_000816.3(GABRG2):c.245G>A (p.Arg82Gln)	GABRG2	Apr 14, 2015	MedGen:C1843244,OMIM:607681;MedGen:C1969810,OMIM:611277;MedGen:CN517202	Epilepsy, childhood absence 2;Familial febrile seizures 8;not provided	germline	5	162093965	ACCTGCTGGAAGGATATGACAATAAACTTCGGCCTGATATAGGAGGTTTGTTAAAGTCTTT
371374918	395662	NM_001010892.2(RSPH4A):c.1068G>A (p.Trp356Ter)	RSPH4A	May 07, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	6	116627775	TACCCACCCAATCCAAAGATGCCGCTTCTGGGGAAAGATCTTGGGTCTGGAAATGAATTAT
1002088882	427075	NM_001171.5(ABCC6):c.333G>A (p.Trp111Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16219834	CCCAGAATTCCTCATTCATCCTACTGTGTGGCTCACCACGATGGTAATGATGCCTTCAGTC
121909255	23095	NM_005055.4(RAPSN):c.484G>A (p.Glu162Lys)	RAPSN	Jul 01, 2007	MedGen:C4225367,OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	germline	11	47447859	TATGCCCACAACAATGATGACGCCATGCTCGAGTGCCGCGTGTGCTGCAGCCTGGGCAGCT
730882162	181307	NM_001195129.1(PRSS56):c.1555G>A (p.Gly519Arg)	PRSS56	Feb 01, 2013	MedGen:C3150757,OMIM:613517	Microphthalmia, isolated 6	germline	2	232525249	CTGGCAGATCTGGGCTCCAAGACACTGACCGGGCTTTTCAGAGCCTGGGTGCGGGCAGGCT
386134165	51331	NM_002739.4(PRKCG):c.368G>A (p.Gly123Glu)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	not provided	19	53889720	TCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTG
104894043	23922	NM_000193.3(SHH):c.676G>A (p.Ala226Thr)	SHH	Aug 29, 2013	MedGen:C1840529,OMIM:142945	Holoprosencephaly 3	germline	7	155803613	AAGGACCTGAGCCCCGGGGACCGCGTGCTGGCGGCGGACGACCAGGGCCGGCTGCTCTACA
794727355	192824	NM_001127221.1(CACNA1A):c.3825+1G>A	CACNA1A	Apr 24, 2015	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Episodic ataxia type 2	germline	19	13283266	CCTGTGCAGCCCAACGCACCTCGGAACAACGTGAGTCCCACAGAGCACACCCCTTCCTAGC
33945777	30477	NM_000518.4(HBB):c.315+1G>A	HBB	Jun 30, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:C0271980,SNOMED CT:86715000;MedGen:CN517202;MedGen:CN169374	beta Thalassemia;beta^0^ Thalassemia;not provided;not specified	germline;unknown	11	5226576	AAGCTGCACGTGGATCCTGAGAACTTCAGGGTGAGTCTATGGGACGCTTGATGTTTTCTTT
199474751	79249	NM_001042492.2(NF1):c.6001G>A (p.Gly2001Arg)	NF1	Nov 04, 2014	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31335026	TCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTAT
121912916	32254	NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu)	COL3A1	Jan 01, 1992	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006207	TTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCG
199476366	79039	NM_000487.5(ARSA):c.737G>A (p.Arg246His)	ARSA	Jul 03, 2013	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:CN517202	Metachromatic leukodystrophy;not provided	germline	22	50626708	GTGGGCAGAGCTTTGCAGAGCGTTCAGGCCGCGGGCCATTTGGGGACTCCCTGATGGAGCT
398122945	76980	NM_023110.2(FGFR1):c.2174G>A (p.Cys725Tyr)	FGFR1	Jan 06, 2016	MedGen:C1845146,OMIM:615465,Orphanet:ORPHA2117	Hartsfield syndrome	germline	8	38414164	AGGGTCACCGCATGGACAAGCCCAGTAACTGCACCAACGAGCTGTAAGCCCGAGGAGATGT
1131692150	418959	NM_181507.1(HPS5):c.219G>A (p.Arg73=)	HPS5	Mar 14, 2017	MedGen:C3888004,OMIM:614074	Hermansky-Pudlak syndrome 5	inherited	11	18311914	CTGGAAGCACAGGCTTTTTCTTTCACACAGGGTAAGATTAAGGGCAGCTCTGTCATACACC
74315341	22999	NM_000261.1(MYOC):c.754G>A (p.Gly252Arg)	MYOC	Jan 01, 2007	MedGen:C1842028,OMIM:137750	Primary open angle glaucoma juvenile onset 1	germline	1	171636686	TTACCAGGATGTGGAGAACTAGTTTGGGTAGGAGAGCCTCTCACGCTGAGAACAGCAGAAA
587783985	168456	NM_133433.3(NIPBL):c.5862+1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37027413	TATGACTGGTTTGAGCAACTGCTTCAAAACGTGAGTGTTCTTTTGACTCCTGATAACCTAA
61664582	77211	NM_000526.4(KRT14):c.1231G>A (p.Glu411Lys)	KRT14	Dec 19, 2016	MedGen:CN517202	not provided	germline	17	41583278	CTGCTGGACGTGAAGACGCGGCTGGAGCAGGAGATCGCCACCTACCGCCGCCTGCTGGAGG
387906587	38546	NM_001458.4(FLNC):c.577G>A (p.Ala193Thr)	FLNC	Apr 24, 2017	MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273;MedGen:CN517202	Myopathy, distal, 4;not provided	germline	7	128835550	CGTGACTGGCAGGACGGCAAAGCTCTGGGCGCCCTGGTGGACAACTGCGCCCCCGGTGAGT
587778778	76742	NM_000784.3(CYP27A1):c.1184G>A (p.Arg395His)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218814187	TGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACA
-1	469865	NM_152296.4(ATP1A3):c.2408G>A (p.Gly803Asp)	ATP1A3	Jun 27, 2017	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	germline	19	41970398	GCACCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTGGCAGCCACCC
1057521144	379200	NM_000444.5(PHEX):c.849+1G>A	PHEX	Jan 30, 2017	MedGen:CN517202	not provided	germline	X	22094100	GTGCTCAGATTGGAAATTAAGATAGCTGAGGTAAGTCTTCACTGAAAATCTCTTTCTTTCC
1057517699	359191	NM_001010874.4(TECRL):c.331+1G>A	TECRL	Oct 18, 2017	Gene:100653371,MedGen:C3151463,OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3	germline	4	64328511	CTTCTCGAGTTGGTCTGCAGCTAGAATGTGGTAAGAAGCATTTTTCACTGATGTGTTTATT
775146234	150320	NM_002085.4(GPX4):c.476+5G>A	GPX4	Jul 01, 2014	MedGen:C1855229,OMIM:250220,Orphanet:ORPHA93317	Spondylometaphyseal dysplasia Sedaghatian type	germline	19	1105814	CCCAAGGGCAAGGGCATCCTGGGAAAGTGCGTGACCTCTGGGGACAGTACGGCTGCTGGGG
886039315	260040	NM_000059.3(BRCA2):c.1185G>A (p.Trp395Ter)	BRCA2	Nov 16, 2015	MedGen:CN517202	not provided	germline	13	32332663	GGAAGTTGTACCGTCTTTGGCCTGTGAATGGTCTCAACTAACCCTTTCAGGTCTAAATGGA
137854444	15820	NM_198488.3(FAM83H):c.1379G>A (p.Trp460Ter)	FAM83H	Apr 01, 2009	MedGen:C0399376,OMIM:130900,Orphanet:ORPHA100032,SNOMED CT:109471001	Amelogenesis imperfecta, hypocalcification type	germline	8	143728082	GTGACCAGCTCTACCAGCAGCAGTACCAGTGGGACCCGCAGCTCACGCCGGCGCGCCCGCA
116840789	23320	NM_033337.2(CAV3):c.136G>A (p.Ala46Thr)	CAV3	Sep 07, 2016	Human Phenotype Ontology:HP:0003236,MedGen:C0241005,OMIM:123320;MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265;MedGen:C1832560;MedGen:CN517202	Creatine phosphokinase, elevated serum;Limb-girdle muscular dystrophy, type 1C;Rippling muscle disease 2;not provided	de novo;germline	3	8745547	CCCCTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACG
1057517845	360647	NM_000377.2(WAS):c.777+1G>A	WAS	Mar 01, 2017	MedGen:C1845987,OMIM:300299,Orphanet:ORPHA86788;MedGen:C1839163,OMIM:313900,Orphanet:ORPHA852;MedGen:C0043194,OMIM:277970,OMIM:301000,Orphanet:ORPHA906,SNOMED CT:36070007;MedGen:CN517202	Severe congenital neutropenia X-linked;Thrombocytopenia, X-linked;Wiskott-Aldrich syndrome;not provided	germline	X	48688097	GTGGGGTGGGACCCCCAGAATGGATTTGACGTGAGTAACTTCAGAGTCTCTTGGACTCCAC
267606715	100013	NM_003159.2(CDKL5):c.533G>A (p.Arg178Gln)	CDKL5	Apr 14, 2017	MedGen:C1839333,OMIM:300672;MedGen:CN517202	Early infantile epileptic encephalopathy 2;not provided	de novo;germline	X	18584332	ACACAGAGTACGTTGCCACCAGATGGTATCGGTCCCCAGAACTCTTACTTGGGTGAGTTAC
200834568	166433	NM_012082.3(ZFPM2):c.779G>A (p.Arg260Gln)	ZFPM2	Jul 15, 2014	MedGen:C4015129,OMIM:616067	46,XY sex reversal 9	germline	8	105798763	TCCCTTGCAAGTCCTGTGGCATCTGGTATCGGAGTGAGCGGAATCTGCAGGCCCATTTGAT
57872071	29671	NM_057088.2(KRT3):c.1525G>A (p.Glu509Lys)	KRT3	Jun 01, 1997	Human Phenotype Ontology:HP:0007755,MedGen:C0339277,OMIM:122100,Orphanet:ORPHA98954,SNOMED CT:1674008;MedGen:CN517202	Meesman's corneal dystrophy;not provided	germline	12	52791216	ATCGCCACCTACCGCAAGCTGCTGGAGGGCGAGGAGTACAGGTGAGCCTCCAGTCCCGTCT
267606997	21861	NM_058216.2(RAD51C):c.773G>A (p.Arg258His)	RAD51C	Jul 21, 2017	MedGen:C3150653,OMIM:613390;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome;not provided	germline	17	58709926	TTCGTCATGACCTAGATGACCTGTCTCTTCGTACTCGGTTATTAAATGGCCTAGCCCAGCA
267606798	51541	NM_000138.4(FBN1):c.4781G>A (p.Gly1594Asp)	FBN1	Jun 01, 2009	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833	Marfan syndrome;Stiff skin syndrome	germline	15	48465825	AGTACAAAATTCTTTGTCCTGGAGGGGAAGGTTTCCGACCAAATCCTATCACCGTTATATT
-1	440153	NM_001080463.1(DYNC2H1):c.6116G>A (p.Arg2039His)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	paternal	11	103177797	GGTCTGATGGTGTTTTGACAAATAGTGCTCGTCAAGTGGTTCGGGAACCTCAAGGTTAGTC
180177307	186791	NM_012203.1(GRHPR):c.337G>A (p.Glu113Lys)	GRHPR	Nov 27, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline;unknown	9	37426587	ACCCCAGATGTCCTGACAGATACCACCGCCGAACTCGCAGTCTCCCTGCTACTTACCACCT
754637718	20087	NM_015665.5(AAAS):c.251G>A (p.Trp84Ter)	AAAS	Dec 01, 2008	MedGen:C1856419	Achalasia-alacrima syndrome	germline	12	53320565	AGCAAGTGTGGAAGAGATGCATCAACATTTGGTGAGGCATGGCAAAGGGTTTCCTGGGTCA
886042705	267995	NM_001849.3(COL6A2):c.901G>A (p.Gly301Ser)	COL6A2	Oct 02, 2015	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	21	46116377	ACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGA
137852491	25087	NM_000194.2(HPRT1):c.134G>A (p.Arg45Lys)	HPRT1	Jun 01, 1990	MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	Lesch-Nyhan syndrome	germline	X	134473465	TGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTA
886040935	262826	NM_000059.3(BRCA2):c.6937+1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32344654	CCTTAAAGGCTTCAAAAAGCACTCCAGATGGTAAAATTAGCTTTTTATTTATATCTGTTCT
1057516033	353900	NM_012330.3(KAT6B):c.3664+1G>A	KAT6B	May 05, 2015	MedGen:C1863557,OMIM:603736,Orphanet:ORPHA3047	Young Simpson syndrome	de novo	10	75025250	ATTGCTTCAAGAATGCTGACCCTTGTAGAAGTAAGTAGAGGAATGATAAAAACCTTACCCT
773539041	442173	NM_000435.2(NOTCH3):c.350G>A (p.Cys117Tyr)	NOTCH3	Sep 30, 2016	MedGen:CN517202	not provided	germline	19	15192289	ACCCTGTCCTGGTCCCTCCAGGCCCTGACTGCTCCCTGCCAGATCCCTGCCTCAGCAGCCC
121434527	33316	NM_001613.2(ACTA2):c.773G>A (p.Arg258His)	ACTA2	Oct 21, 2016	MedGen:C2673186,OMIM:611788;MedGen:C3279690,OMIM:614042;MedGen:CN517202	Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;not provided	germline	10	88939542	AAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATCCTT
540255320	214347	NM_001244189.1(KIAA0586):c.3303G>A (p.Pro1101=)	KIAA0586	Sep 01, 2015	MedGen:C4084822,OMIM:616490	Joubert syndrome 23	unknown	14	58482712	GGATGCTTCAACAAATGAAACATATTTGCCGGTATGGGGAATTTTTGAGACATTTATTGAA
143746450	405524	NM_014362.3(HIBCH):c.809+1G>A	HIBCH	Mar 03, 2017	MedGen:CN517202	not provided	germline	2	190246153	ACTTGAGGAACACATGGACAAAATAAACAGGTACCTAAAAAGAGATCTCAGTTATATATTC
757754120	429328	NM_000372.4(TYR):c.880G>A (p.Glu294Lys)	TYR	Mar 15, 2016	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008	Tyrosinase-negative oculocutaneous albinism	germline	11	89191262	AGCCATCAGTCTTTATGCAATGGAACGCCCGAGGGACCTTTACGGCGTAATCCTGGAAACC
80356908	68776	NM_007294.3(BRCA1):c.1058G>A (p.Trp353Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	germline	17	43094473	ATGCTGATCCCCTGTGTGAGAGAAAAGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAA
1057519440	362170	NM_018094.4(GSPT2):c.1021G>A (p.Val341Ile)	GSPT2	-	Gene:100188832,Human Phenotype Ontology:HP:0000717,MedGen:C0004352,OMIM:209850,SNOMED CT:43614003;Human Phenotype Ontology:HP:0000750,MedGen:C0454644;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Autistic disorder of childhood onset;Delayed speech and language development;Seizures	de novo	X	51744647	GAACATGCGATGTTGGCAAAAACGGCAGGGGTAAAACATTTAATAGTGCTTATTAATAAGA
62635018	25560	NM_000273.2(GPR143):c.104G>A (p.Gly35Asp)	GPR143	Nov 01, 1998	MedGen:C0342684,OMIM:300500,Orphanet:ORPHA54,SNOMED CT:78642008;MedGen:CN517202	Ocular albinism, type I;not provided	germline	X	9765714	AGCCGCGGGCCTTCCACGCGCTCTGCCTGGGCAGCGGCGGGCTCCGCTTGGCGCTGGGCCT
750294638	359706	NM_000165.4(GJA1):c.605G>A (p.Arg202His)	GJA1	Dec 01, 2016	MedGen:CN517202	not provided	germline	6	121447452	GCCCACATCAGGTGGACTGTTTCCTCTCTCGCCCCACGGAGAAAACCATCTTCATCATCTT
875989859	227873	NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr)	ACADM	Feb 20, 2015	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75733588	GTTTAATTAGTGAAGAATTGGCTTATGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAA
121908671	21322	NM_002335.3(LRP5):c.640G>A (p.Ala214Thr)	LRP5	Mar 01, 2003	MedGen:C0432273,OMIM:144750,Orphanet:ORPHA2790,SNOMED CT:254131007	Worth disease	germline	11	68357801	CTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCACCGTGCCAACC
879253766	244029	NM_015359.4(SLC39A14):c.1147G>A (p.Gly383Arg)	SLC39A14	Mar 13, 2017	MedGen:C4310765,OMIM:617013	Hypermanganesemia with dystonia 2	germline	8	22416280	ATCCTCTGTGAGGAGTTCCCACATGAGCTAGGTAAGCGTGCGTCCCCCGTTCCACTGGTGC
398124354	101845	NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter)	RPGRIP1	Oct 24, 2013	MedGen:CN517202	not provided	germline	14	21327687	CAACGGATCTATTCAAGTGCAACTGGATTGGAAGTTTCCCTACATACCCCCTGAGAGCTTC
138642840	71221	NM_017739.3(POMGNT1):c.1539+1G>A	POMGNT1	Aug 25, 2016	MedGen:CN227268,Orphanet:ORPHA352687;MedGen:C3150412,OMIM:613151;MedGen:C3150417,OMIM:613157,Orphanet:ORPHA206564;MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001;MedGen:CN239299;MedGen:CN517202	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Muscle eye brain disease;POMGNT1-Related Disorders;not provided	germline;unknown	1	46192097	GTCGGCCTCAACATGAATGGCTACTTTCACGTGAGTGGGAGGCAGGGAGCAGGGCACAGTG
730882163	181308	NM_001137601.2(ZBTB42):c.1190G>A (p.Arg397His)	ZBTB42	Mar 09, 2015	MedGen:C4015686,OMIM:616248	Lethal congenital contracture syndrome 6	germline	14	104802387	AGAAGCCGCATGCCTGCCGGTGGTGTGAGCGCCGTTTCACGCAGTCCGGGGACCTCTACCG
587783834	169994	NM_000252.2(MTM1):c.549G>A (p.Trp183Ter)	MTM1	Apr 26, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641289	TTCCTCACAGGGCTTGCCCAATCACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAG
765427574	274247	NM_213599.2(ANO5):c.1406G>A (p.Trp469Ter)	ANO5	Aug 05, 2016	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549	Limb-girdle muscular dystrophy, type 2L	germline	11	22257753	ACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAAT
58645997	188166	NM_002055.4(GFAP):c.1090G>A (p.Ala364Thr)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44911273	AATGTCAAGCTGGCCCTGGACATCGAGATCGCCACCTACAGGAAGCTGCTAGAGGGCGAGG
145754412	211885	NM_017827.3(SARS2):c.30G>A (p.Trp10Ter)	SARS2	Jun 13, 2017	MedGen:CN517202	not provided	germline	19	38930707	GATGGCTGCGTCCATGGCGCGGCGCTTGTGGCCTTTGCTGACTCGTCGGGGGTTCCGGCCC
199472912	78104	NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn)	KCNH2	Dec 28, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	7	150952481	GTCCACTACTTCAAGGGCTGGTTCCTCATCGACATGGTGGCCGCCATCCCCTTCGACCTGC
61748520	105341	NM_000350.2(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Aug 29, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline;unknown	1	94001046	GGCACGCCGCATGCTGTGGAACGTCATCGTGAGCATCATCAGAGAAGGGAGGGCTGTGGTC
760101382	203539	NM_000156.5(GAMT):c.491G>A (p.Gly164Asp)	GAMT	Oct 13, 2014	MedGen:CN517202	not provided	germline	19	1398995	ACCACGCCTTTCGCCTGCTGAAGCCGGGGGGCGTCCTCACCTACTGCAACCTCACCTCCTG
1057517920	359882	NM_000256.3(MYBPC3):c.1458G>A (p.Trp486Ter)	MYBPC3	Dec 02, 2016	MedGen:CN517202	not provided	germline	11	47342744	ACAGCACTTGCCACCCACCCACCCGGCTAGGCTGAAGGACGGGGTGGAGCTGACCCGGGAG
119103228	16947	NM_000411.6(HLCS):c.1711G>A (p.Asp571Asn)	HLCS	Feb 01, 1999	MedGen:C0268581,OMIM:253270,Orphanet:ORPHA79242	Holocarboxylase synthetase deficiency	germline	21	36759811	GATATCAACTTACGAGTGAAGTGGCCCAACGATATTTATTACAGTGACCTCATGAAGATCG
587779506	106949	NM_000090.3(COL3A1):c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005458	GCTGGTACAGCTGGTGAACCTGGAAGAGATGTGAGTAGCAGTTTTTATTCAACCAGCCAGG
367543041	34326	NM_007375.3(TARDBP):c.1144G>A (p.Ala382Thr)	TARDBP	Apr 27, 2017	MedGen:C2677565,OMIM:612069;MedGen:C3150170;MedGen:CN517202	Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED;not provided	germline	1	11022553	AACTCTTATAGTGGCTCTAATTCTGGTGCAGCAATTGGTTGGGGATCAGCATCCAATGCAG
587776351	165476	NM_000059.3(BRCA2):c.8490G>A (p.Trp2830Ter)	BRCA2	Oct 18, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Breast-ovarian cancer, familial 2;Familial cancer of breast	germline;somatic	13	32370958	TTTTGGTGTGTGTAACACATTATTACAGTGGATGGAGAAGACATCATCTGGATTATACATA
119103231	16950	NM_000411.6(HLCS):c.1648G>A (p.Val550Met)	HLCS	Sep 27, 2016	MedGen:C0268581,OMIM:253270,Orphanet:ORPHA79242;MedGen:CN517202	Holocarboxylase synthetase deficiency;not provided	germline	21	36765044	TTTGTCCAGCATCTGATGTCCGTGGCTGTCGTGGAAGCAGTGAGGTCCATTCCCGAGTATC
875989906	228144	NM_000527.4(LDLR):c.661G>A (p.Asp221Asn)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11105567	CACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACT
104893837	31063	NM_000406.2(GNRHR):c.785G>A (p.Arg262Gln)	GNRHR	May 16, 2017	Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004;MedGen:CN517202	Hypogonadotropic hypogonadism 7 with or without anosmia;not provided	germline	4	67740682	ATCAGTCCAAGAACAATATACCAAGAGCACGGCTGAAGACTCTAAAAATGACGGTTGCATT
-1	466532	NM_000267.3(NF1):c.3144G>A (p.Trp1048Ter)	NF1	Apr 16, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31230872	GAATAAGATGGTAGAATACCTGACAGACTGGGTTATGGGAACATCAAACCAAGCAGCAGAT
199476102	23248	NM_001009944.2(PKD1):c.12420G>A (p.Trp4140Ter)	PKD1	Sep 01, 1999	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	Polycystic kidney disease, adult type	germline	16	2090309	GGAGTTGTTCCTGCGCAGGCTGCGCCTCTGGATGGGCCTCAGCAAGGTCAAGGAGGTGGGT
80338834	29112	NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys)	MYH9	Apr 05, 2011	MedGen:C0403445,OMIM:153640,SNOMED CT:236422008;MedGen:CN073381,Orphanet:ORPHA182050;MedGen:C0340978,OMIM:155100	Fechtner syndrome;MYH9 related disorders;May-Hegglin anomaly	germline	22	36284474	CAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTGCTGCAGG
879253773	244066	NM_002075.3(GNB3):c.1017G>A (p.Trp339Ter)	GNB3	Aug 12, 2016	MedGen:C4310758,OMIM:617024	Night blindness, congenital stationary, type 1h	germline	12	6846892	AGGTTCCTGGGACAGCTTCCTCAAAATCTGGAACTGAGGAGGCTGGAGAAAGGGAAGTGGA
755239192	264067	NM_001271208.1(NEB):c.24219+1G>A	NEB	Sep 10, 2015	MedGen:CN517202	not provided	germline	2	151499297	GTCAAACACAATCAAGAAAACTTTAGTTCGGTATTTAAAAATAAAAAATCCCTTTAATTAT
-1	442078	NM_000068.3(CACNA1A):c.2009G>A (p.Trp670Ter)	CACNA1A	Dec 20, 2016	MedGen:CN517202	not provided	germline	19	13303865	TCCCCTTTCAGATCCTGACGGGCGAAGACTGGAACGAGGTCATGTACGACGGGATCAAGTC
750995470	32159	NM_080680.2(COL11A2):c.4392+1G>A	COL11A2	Sep 01, 1994	MedGen:C1861481,OMIM:184840	Stickler syndrome, type 3	germline	6	33166512	ATTGGTCCTGGAGGTCCCCCCGGCCTCCCCGTGAGTACTGCCTCTGTTCCTCCACAAAATC
1064793745	405043	NM_206933.2(USH2A):c.3507G>A (p.Trp1169Ter)	USH2A	Jul 06, 2015	MedGen:CN517202	not provided	germline	1	216199931	TATTGGCTCAGACTCTGTGACACTTACCTGGACAACACTCTCAAATCAATCTGGTCCCATA
869312959	226942	NM_003384.2(VRK1):c.1068+1G>A	VRK1	Mar 27, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	14	96860736	GGAGGTTTGAAAGCAAAAACAATAACAAAGGTGAATTTTGTTATTAAATTATTCTTTGGTC
137852436	25285	NM_000132.3(F8):c.2167G>A (p.Ala723Thr)	F8	Sep 29, 2016	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008;MedGen:CN169374	Hereditary factor VIII deficiency disease;not specified	germline	X	154931623	AACTCAGACTTTCGGAACAGAGGCATGACCGCCTTACTGAAGGTTTCTAGTTGTGACAAGA
74315450	29503	NM_001754.4(RUNX1):c.602G>A (p.Arg201Gln)	RUNX1	Dec 07, 2016	MedGen:C1832388,OMIM:601399,Orphanet:ORPHA71290	Familial platelet disorder with associated myeloid malignancy	germline	21	34859485	GAGCCATCAAAATCACAGTGGATGGGCCCCGAGAACCTCGAAGTAAGTGCATCCACTTGGG
879255519	178803	NM_005886.2(KATNB1):c.432+1G>A	KATNB1	Feb 06, 2015	MedGen:C4015525,OMIM:616212	Lissencephaly 6, with microcephaly	germline	16	57751303	AGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGA
137852304	25512	NM_000032.4(ALAS2):c.514G>A (p.Ala172Thr)	ALAS2	Oct 01, 1995	MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED CT:62677000	Hereditary sideroblastic anemia	germline	X	55021176	TACCGTGTGTTCAAGACTGTGAACCGCTGGGCTGATGCATATCCCTTTGCCCAACATTTCT
104894031	15101	NM_001708.2(OPN1SW):c.235G>A (p.Gly79Arg)	OPN1SW	Mar 01, 1992	MedGen:C0155017,OMIM:190900,Orphanet:ORPHA88629	Tritanopia	germline	7	128775556	CTCAACTACATTCTGGTCAACGTGTCCTTCGGAGGCTTCCTCCTCTGCATCTTCTCTGTCT
1131692158	424285	NM_001130987.1(DYSF):c.5642G>A (p.Gly1881Asp)	DYSF	May 29, 2017	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71669207	GGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCA
61751276	104715	NM_000329.2(RPE65):c.11+5G>A	RPE65	May 03, 2017	MedGen:C1859844,OMIM:204100;MedGen:C1859844,OMIM:204100;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C3151086,OMIM:613794;MedGen:CN517202	Leber congenital amaurosis 2;Leber congenital amaurosis 2;Retinal dystrophy;Retinitis pigmentosa 20;not provided	germline;unknown	1	68449890	CTGAACTGGAAGAAAATGTCTATCCAGTAAGTATCTCTGGGAGACTTTTTTAAAACACCTT
773827877	268752	NM_000070.2(CAPN3):c.1333G>A (p.Gly445Arg)	CAPN3	Dec 31, 2015	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42399631	GAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGAT
587777339	132640	NM_153485.2(NUP155):c.1172G>A (p.Arg391His)	NUP155	Dec 12, 2008	MedGen:C4014269,OMIM:615770	Atrial fibrillation, familial, 15	germline	5	37341164	GGCCTAATACACTGACGCTGGTTCATGTCCGCTTACCTCCTGGATTCTCAGCATCTTCAAC
794728851	196990	NM_198056.2(SCN5A):c.1080G>A (p.Trp360Ter)	SCN5A	Aug 04, 2013	MedGen:CN517202	not provided	germline	3	38606729	CGGCTACACCAGCTTCGATTCCTTTGCCTGGGCCTTTCTTGCACTCTTCCGCCTGATGACG
672601336	141328	NM_022168.3(IFIH1):c.1483G>A (p.Gly495Arg)	IFIH1	Dec 01, 2014	MedGen:C3888244,OMIM:615846	Aicardi-goutieres syndrome 7	germline	2	162281369	CTGGGACTAACAGCTTCACCTGGTGTTGGAGGGGCCACGAAGCAAGCCAAAGCTGAAGAAC
397508263	271106	NM_000492.3(CFTR):c.1679+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Cystic fibrosis;Hereditary pancreatitis	germline	7	117587834	AGGTCAACGAGCAAGAATTTCTTTAGCAAGGTGAATAACTAATTATTGGTCTAGCAAGCAT
104886247	36003	NM_000495.4(COL4A5):c.3632G>A (p.Gly1211Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668346	TAGGCCAAAAGGGTGATGGAGGATTACCTGGGATTCCAGGAAATCCTGGCCTTCCAGGTCC
111033550	32514	NM_000493.3(COL10A1):c.52G>A (p.Gly18Arg)	COL10A1	Jan 01, 1997	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116125441	TTGCTGCTAGTATCCTTGAACTTGGTTCATGGAGTGTTTTACGCTGAACGATACCAAATGC
587777162	106647	NM_001958.3(EEF1A2):c.208G>A (p.Gly70Ser)	EEF1A2	Apr 01, 2016	MedGen:C4225337,OMIM:616409;MedGen:CN517202	Epileptic encephalopathy, early infantile, 33;not provided	germline	20	63495972	CTGGACAAGCTGAAGGCGGAGCGTGAGCGCGGCATCACCATCGACATCTCCCTCTGGAAGT
119103277	180116	NM_000551.3(VHL):c.263G>A (p.Trp88Ter)	VHL	Apr 25, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome;not provided	germline	3	10142110	ATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTA
199476118	24761	NC_012920.1:m.3460G>A	MT-ND1	Oct 03, 2017	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838979,OMIM:252010	Leber's optic atrophy;Leigh syndrome;Mitochondrial complex I deficiency	germline	MT	3460	CCCTACGGGCTACTACAACCCTTCGCTGACGCCATAAAACTCTTCACCAAAGAGCCCCTAA
121918140	15779	NM_203395.2(IYD):c.658G>A (p.Ala220Thr)	IYD	Dec 01, 2008	MedGen:C0342195,OMIM:274800,SNOMED CT:17885001	Iodotyrosine deiodination defect	germline	6	150394226	CACTACTACAATGAGATCAGTGTTTCCATCGCTTGTGGCATCCTGCTAGCTGCCCTGCAGG
368953604	44266	NM_032634.3(PIGO):c.3069+5G>A	PIGO	Aug 01, 2012	MedGen:C3553637,OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2	germline	9	35090061	AGTACCTCTTTATCCTTGGTATTCAGGTGGGTGTAGGAGAGAGATCAGGGAGTTGGTGTTT
587782989	165628	NM_001080414.3(CCDC88C):c.1391G>A (p.Arg464His)	CCDC88C	Sep 01, 2014	MedGen:CN219009,OMIM:616053	Spinocerebellar ataxia 40	germline;inherited	14	91321256	TGTTTGAGCTGAACGAATGTGCGTCCAGCCGCATCCTGAAGCTGGAGAAGGAGAATCAGAG
-1	438545	NM_001313904.1(NFE2L2):c.12G>A (p.Gln4=)	NFE2L2	Oct 30, 2017	MedGen:CN578218,OMIM:617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	germline	2	177234076	TTCGCTCAGTTACAACTAGATGAAGAGACAGGTGAATTTCTCCCAATTCAGCCAGCCCAGC
79658334	28984	NM_020975.4(RET):c.2410G>A (p.Val804Met)	RET	Aug 03, 2017	MedGen:C1275808,OMIM:209880,Orphanet:ORPHA661,SNOMED CT:399040002;MedGen:C1833921,OMIM:155240,Orphanet:ORPHA99361;MedGen:C1833921,OMIM:155240,Orphanet:ORPHA99361;MedGen:C0027672,SNOMED CT:699346009;MedGen:C2931876,OMIM:142623;MedGen:CN076152;na;MedGen:CN073359,Orphanet:ORPHA653,SNOMED CT:61808009;MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009;MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009;MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001;MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;MedGen:C1619700,OMIM:191830;MedGen:CN517202;MedGen:CN169374	Congenital central hypoventilation;Familial medullary thyroid carcinoma;Familial medullary thyroid carcinoma;Hereditary cancer-predisposing syndrome;Hirschsprung disease 1;MEN2 phenotype: Unclassified;MEN2A and FMTC;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;not provided;not specified	germline;unknown	10	43119548	TCTCCGCCCCCAGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGG
104893772	28060	NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	RHO	Aug 01, 1991	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129528999	TAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCT
763147599	360376	NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116927	CTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATG
104894325	20162	NM_020661.3(AICDA):c.203G>A (p.Trp68Ter)	AICDA	Sep 01, 2000	MedGen:C1720956,OMIM:605258,Orphanet:ORPHA101089	Immunodeficiency with hyper IgM type 2	germline	12	8605439	AATTGCTCTTCCTCCGCTACATCTCGGACTGGGACCTAGACCCTGGCCGCTGCTACCGCGT
587783657	169303	NM_005682.6(ADGRG1):c.1970G>A (p.Trp657Ter)	ADGRG1	Feb 17, 2014	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline	16	57663470	CACTGCCCGCAGGCTTCCTCATCTTCATCTGGTACTGGTCCATGCGGCTGCAGGCCCGGGG
-1	486941	NM_000551.3(VHL):c.278G>A (p.Gly93Asp)	VHL	Feb 04, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10142125	TCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGCC
587779478	106918	NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991014	TGGTTTTATACATTTCCTAGGGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGC
1135402918	425267	NM_000574.4(CD55):c.287-1G>A	CD55	Aug 11, 2017	Human Phenotype Ontology:HP:0002243,MedGen:C0033680,OMIM:226300	Enteropathy, protein-losing	germline	1	207324558	TTTTTGTTGCTGCTTTTGTTAATACTTTTAGGTAGCTGCGAGGTGCCAACAAGGCTAAATT
199472709	67755	NM_000218.2(KCNQ1):c.692G>A (p.Arg231His)	KCNQ1	Jun 20, 2017	MedGen:C1837014,OMIM:607554;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Atrial fibrillation, familial, 3;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2572021	CCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACACGT
267607832	221403	NM_000249.3(MLH1):c.1558+1G>A	MLH1	Oct 11, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	germline	3	37028933	AGGAAGAAATTAATGAGCAGGGACATGAGGGTACGTAAACGCTGTGGCCTGCCTGGGATGC
193922289	44873	NM_000162.3(GCK):c.214G>A (p.Gly72Arg)	GCK	Apr 04, 2016	MedGen:C1841962,OMIM:125851;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44152420	GACACACTTCTCTCTGTGCCTTTAGAAGTCGGGGACTTCCTCTCCCTGGACCTGGGTGGCA
140365820	428912	NM_000550.2(TYRP1):c.1261+1G>A	TYRP1	Nov 23, 2016	Human Phenotype Ontology:HP:0001022,MedGen:C0001916;MedGen:C1859932,OMIM:203290	Albinism;Oculocutaneous albinism type 3	germline;unknown	9	12704706	TTGATGAATGGCTGAGGAGATACAATGCTGGTAAGACATTTTCATATGCCTTTTGCATGCT
376610445	480564	NM_021067.4(GINS1):c.455G>A (p.Cys152Tyr)	GINS1	Jan 09, 2018	MedGen:CN737162,OMIM:617827	IMMUNODEFICIENCY 55	germline	20	25441709	ACATCTCTCATTTTTTCTTTCAGGTCCGGTGTCTAAAAGACTATGGAGAATTTGAAGTTGA
863223293	24582	NM_000246.3(CIITA):c.2063G>A (p.Trp688Ter)	CIITA	Feb 01, 2002	MedGen:C1859534	Bare lymphocyte syndrome type 2, complementation group A	germline	16	10907555	ACCAGTTCCCATCCGCAGACGTGAGGACCTGGGCGATGGCCAAAGGCTTAGTCCAACACCC
1057521094	369463	NM_000162.3(GCK):c.364-1G>A	GCK	Oct 05, 2016	MedGen:CN517202	not provided	germline	7	44151076	CCAGATGGTCACCATGGCGTGCATCTTCCAGCTCTTCGACTACATCTCTGAGTGCATCTCC
377767397	36239	NM_020630.4(RET):c.1832G>A (p.Cys611Tyr)	RET	Jun 17, 2017	MedGen:C0027672,SNOMED CT:699346009;na;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MEN2A and FMTC;not provided	germline	10	43113628	GGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGA
730880818	179479	NM_000257.3(MYH7):c.5410G>A (p.Ala1804Thr)	MYH7	Mar 18, 2013	MedGen:CN517202	not provided	germline	14	23415144	CAGCACCGGCTGGACGAAGCCGAGCAGATCGCCCTCAAGGGCGGCAAGAAGCAGCTGCAGA
121918030	28616	NM_000301.3(PLG):c.704G>A (p.Arg235His)	PLG	May 15, 1999	MedGen:C1968804,OMIM:217090,Orphanet:ORPHA722	Plasminogen deficiency, type I	germline	6	160716680	CAAACAAGAACCTGAAGAAGAATTACTGTCGTAACCCCGATAGGGAGCTGCGGCCTTGGTG
121917885	24121	NM_022788.4(P2RY12):c.767G>A (p.Arg256Gln)	P2RY12	Jun 14, 2017	MedGen:C1853278,OMIM:609821,Orphanet:ORPHA36355	Platelet-type bleeding disorder 8	germline	3	151338079	TTATTTGTTTTGTTCCTTTCCATTTTGCCCGAATTCCTTACACCCTGAGCCAAACCCGGGA
863223412	210232	NM_000020.2(ACVRL1):c.986G>A (p.Arg329His)	ACVRL1	Jul 12, 2017	MedGen:C1838163,OMIM:600376;MedGen:CN517202	Hereditary hemorrhagic telangiectasia type 2;not provided	germline	12	51915438	GTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAA
587777790	166218	NM_006218.3(PIK3CA):c.353G>A (p.Gly118Asp)	PIK3CA	May 31, 2016	MedGen:C0007112;MedGen:C0278701;MedGen:C3554518,OMIM:615108;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Cowden syndrome 5;Glioblastoma;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the thyroid gland;Pancreatic adenocarcinoma;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Uterine cervical neoplasms	germline;somatic	3	179199690	TGTTATATTCTTTATGTAATTTTATTAAAGGTTTTGCTATCGGCATGCCAGTGTGTGAATT
869312664	225808	NM_001040142.1(SCN2A):c.4726G>A (p.Gly1576Arg)	SCN2A	May 08, 2014	MedGen:C3150987,OMIM:613721	Early infantile epileptic encephalopathy 11	de novo	2	165386920	ATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTC
137852618	24510	NM_000211.4(ITGB2):c.817G>A (p.Gly273Arg)	ITGB2	Sep 29, 2016	MedGen:C0272187;MedGen:CN517202	Leukocyte adhesion deficiency;not provided	germline	21	44900400	ACTGATGACGGCTTCCATTTCGCGGGCGACGGGAAGCTGGGCGCCATCCTGACCCCCAACG
74315483	18130	NM_000487.5(ARSA):c.763G>A (p.Glu255Lys)	ARSA	Sep 09, 2016	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C0751278,Orphanet:ORPHA309256;MedGen:CN517202	Metachromatic leukodystrophy;Metachromatic leukodystrophy, late infantile;not provided	germline;unknown	22	50626682	GGCCGCGGGCCATTTGGGGACTCCCTGATGGAGCTGGATGCAGCTGTGGGGACCCTGATGA
879255514	59386	NM_000419.4(ITGA2B):c.3077G>A (p.Arg1026Gln)	ITGA2B	May 03, 2013	MedGen:C1861195,OMIM:187800	Platelet-type bleeding disorder 16	germline	17	44372407	CCGTGTACCCCCAGGTCGGCTTCTTCAAGCGGAACCGGCCACCCCTGGAAGAAGATGATGA
72656306	32339	NM_000088.3(COL1A1):c.3271G>A (p.Gly1091Ser)	COL1A1	Oct 03, 1997	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50187974	TTGTCCCTTTCTCTCTTCTAGGGACCCCAAGGCCCCCGTGGTGACAAGGGTGAGACAGGCG
879253909	245188	NM_000166.5(GJB1):c.541G>A (p.Val181Met)	GJB1	Mar 24, 2015	MedGen:CN517202	not provided	germline	X	71224248	TACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCA
387906659	38759	NM_001626.5(AKT2):c.49G>A (p.Glu17Lys)	AKT2	Oct 28, 2011	MedGen:C3278384	Hypoinsulinemic hypoglycemia and hemihypertrophy	germline	19	40257052	CTCTCCCTCCCTTCCTGCCTCATTTCAGGTGAATACATCAAGACCTGGAGGCCACGGTACT
397515404	48194	NM_020822.2(KCNT1):c.1421G>A (p.Arg474His)	KCNT1	Apr 22, 2017	MedGen:C3554195,OMIM:614959;MedGen:C3554195,OMIM:614959;MedGen:C3554306,OMIM:615005;MedGen:CN517202	Early infantile epileptic encephalopathy 14;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided	de novo;germline	9	135768848	CACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAA
193929373	33930	NM_000162.3(GCK):c.790G>A (p.Gly264Ser)	GCK	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	7	44147723	AATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGACGAGTTCCTGCTGGAGTATG
72658186	441159	NM_000089.3(COL1A2):c.2332G>A (p.Gly778Ser)	COL1A2	May 12, 2017	MedGen:CN517202	not provided	germline	7	94421045	AATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACA
267607001	15308	NM_001134363.2(RBM20):c.1901G>A (p.Arg634Gln)	RBM20	May 01, 2017	MedGen:C2750995,OMIM:613172;MedGen:CN517202	Dilated cardiomyopathy 1DD;not provided	germline	10	110812298	TCCCTCACAGATATGGCCCAGAAAGGCCGCGGTCTCGTAGTCCGGTGAGCCGGTCACTCTC
80338911	34211	NM_003221.3(TFAP2B):c.601+5G>A	TFAP2B	Jan 02, 2013	MedGen:C1868570,OMIM:169100,Orphanet:ORPHA46627;MedGen:C4284595,OMIM:617035	Char syndrome;Patent ductus arteriosus 2	germline	6	50828684	ATTGGACCAGTCTGTCATTAAAAAAGGTATGGATAATTCCCCCCAAAAAGTAAGCAAAGTT
573750741	273146	NM_000067.2(CA2):c.232+1G>A	CA2	Jul 15, 2016	MedGen:C0345407,OMIM:259730,SNOMED CT:254122007	Osteopetrosis with renal tubular acidosis	germline	8	85465470	TGGAGTTTGATGACTCTCAGGACAAAGCAGGTCAGTGTTTAGAAAATAACTTGTGTCTTTT
775288140	359487	NM_000094.3(COL7A1):c.682+1G>A	COL7A1	Jun 18, 2017	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;MedGen:CN517202	Recessive dystrophic epidermolysis bullosa;not provided	germline;inherited	3	48593101	CTGCTGGTGGCGTGCCTGTGACCCGACCTCGTGAGTTCCTGCCCACACGGTGTACCCTGAC
121912466	29779	NM_000213.4(ITGB4):c.2792G>A (p.Gly931Asp)	ITGB4	May 01, 2000	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	germline	17	75742591	CACCTCCGAACCCCCACCCAGACGCCCGGGGCATGGTGGAGTTCCAGGAGGGCGTGGAGCT
1085307426	414406	NM_000020.2(ACVRL1):c.1436G>A (p.Arg479Gln)	ACVRL1	Feb 16, 2017	MedGen:C1838163,OMIM:600376;MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN169374	Hereditary hemorrhagic telangiectasia type 2;Primary pulmonary hypertension;not specified	germline	12	51920817	GGGAGTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACT
751440831	483115	NM_178170.2(NEK8):c.1738G>A (p.Gly580Ser)	NEK8	Feb 14, 2018	MedGen:C3809434,OMIM:615415	Renal-hepatic-pancreatic dysplasia 2	germline	17	28741083	CCCCTTTCCTTCCTCTCCCCCATAGCCTCGGGTGATTGCTACACTTTTGGCAGCAATCAGC
202143236	187120	NM_001166686.1(PFKM):c.450+1G>A	PFKM	Oct 21, 2016	MedGen:C0017926,OMIM:232800,Orphanet:ORPHA371,SNOMED CT:89597008	Glycogen storage disease, type VII	germline;unknown	12	48131394	TGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATT
1057519269	361751	NM_004644.4(AP3B2):c.1182G>A (p.Lys394=)	AP3B2	Jan 10, 2017	MedGen:C4310637,OMIM:617276	Epileptic encephalopathy, early infantile, 48	germline	15	82679729	CACCGACCCCACCCAGATTAAGATCCTGAAGGTGAGTGAGGGACAGAAGTGCATGTGCTTC
281865025	17800	NM_024312.4(GNPTAB):c.771G>A (p.Leu257=)	GNPTAB	May 10, 2012	MedGen:C2673375;MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Mucolipidosis III alpha/beta, atypical;Pseudo-Hurler polydystrophy	germline	12	101780152	GCCAGAAAATCTTTCCTCTAAAGTCAAACTGGTAAGAACATAGAAAATAGAGCAATTAGCC
199469648	106406	NM_017415.2(KLHL3):c.753+1G>A	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137661914	CCTCTCTTACCTAGGGACTACCTAGTCCAAGTGAGTGTTGTATGAAGAGCCAAGCACTTCT
1057524905	380271	NM_000162.3(GCK):c.680-1G>A	GCK	Apr 22, 2016	MedGen:CN240909	Monogenic diabetes	inherited	7	44147834	TCGCTGACAGTCCCCCCGACCTCCACCCCAGGCACGGGCTGCAATGCCTGCTACATGGAGG
777313709	409033	NM_024570.3(RNASEH2B):c.437-1G>A	RNASEH2B	Mar 13, 2017	MedGen:CN517202	not provided	germline	13	50943320	TCATTGTGCTGAGTCTTTTTTTTCTTTTAAGGTAATCCAGAAATAGACAACAAGAAATATT
1085307151	414077	NM_001204.6(BMPR2):c.38G>A (p.W13*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377512	CCTCGCTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGCTGGTCAGCAC
137852518	25025	NM_000425.4(L1CAM):c.791G>A (p.Cys264Tyr)	L1CAM	Aug 01, 1993	MedGen:C0265216,OMIM:307000,Orphanet:ORPHA2182,SNOMED CT:71779008	X-linked hydrocephalus syndrome	germline	X	153870403	CCTTGCAGGGGCAGCCATTGGTCCTGGAGTGCATCGCCGAGGGCTTGTGAGTCTGGGAACC
-1	481716	NM_025009.4(CEP135):c.2594G>A (p.Trp865Ter)	CEP135	Dec 15, 2017	MedGen:CN517202	not provided	germline	4	56011500	TTCATAAATACATAACAGAGGTGTCACGATGGGAGAGCTTAATGGCTGCCAAGGTGAAAAA
28938171	22592	NM_001122681.1(SH3BP2):c.1259G>A (p.Gly420Glu)	SH3BP2	Jun 01, 2001	MedGen:C0008029,OMIM:118400,Orphanet:ORPHA184,SNOMED CT:76098004	Fibrous dysplasia of jaw	germline	4	2831588	CCTGCCCCTCCAGGCGATCACCCCCCGATGGGCAGAGTTTCAGGAGCTTCTCCTTTGAAAA
121908834	21228	NM_003680.3(YARS):c.586G>A (p.Glu196Lys)	YARS	Feb 01, 2006	MedGen:C1842237,OMIM:608323,Orphanet:ORPHA100045	Charcot-Marie-Tooth disease, dominant intermediate C	germline	1	32797768	ATTGATCAGAGAAAGATTTTCACCTTTGCAGAGAAGGTGAGTGTCTGCTTTCCTGTCTTTT
398122399	86136	NM_002608.3(PDGFB):c.3G>A (p.Met1Ile)	PDGFB	Aug 14, 2017	MedGen:C3809645,OMIM:615483	Idiopathic basal ganglia calcification 5	germline	22	39243961	GCCCCGCGGGGCCGGGCCCGGAGTCGGCATGAATCGCTGCTGGGCGCTCTTCCTGTCTCTC
879255224	246637	NM_000527.4(LDLR):c.2547+1G>A	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11129671	CACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCTCTAGAAAGCCAGAGCCC
121913111	31390	NM_000142.4(FGFR3):c.964G>A (p.Glu322Lys)	FGFR3	Oct 18, 2017	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	4	1803725	GCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACGTCACCTTTG
886039862	260737	NM_003611.2(OFD1):c.518-1G>A	OFD1	Aug 04, 2016	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	germline	X	13746318	TGTCCTAATTTGATGTGTTATTTTTTAATAGCTGAGAAGCTTCAGCTTATTGATGATCAGT
869320631	226702	NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)	KCNJ13	Mar 31, 2016	MedGen:C3280062,OMIM:614186	Leber congenital amaurosis 16	germline	2	232771205	ATGCTTGGGGAATCCTAATGGACATGCGCTGGCGTTGGATGATGTTGGTCTTTTCTGCTTC
776221160	212513	NM_024577.3(SH3TC2):c.279G>A (p.Lys93=)	SH3TC2	Jan 14, 2015	MedGen:CN043578	Charcot-Marie-Tooth disease, type IV	germline	5	149047862	TGAGGACCAGGAGGTGCGCATGCTGTTTAAGGTGAGCATGAAGGAAACAGGTGAATGCTGA
1057518672	361177	NM_003108.3(SOX11):c.1286G>A (p.Trp429Ter)	SOX11	May 01, 2016	MedGen:C4014528,OMIM:615866	Mental retardation, autosomal dominant 27	germline	2	5694007	CGGAGCTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTT
398123438	99085	NM_000512.4(GALNS):c.463G>A (p.Gly155Arg)	GALNS	Jun 13, 2013	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88837725	CACAGGCCCCAGTTCCACCCCCTGAAGCACGGATTTGATGAGTGGTTTGGATCCCCCAACT
797044855	205253	NM_002047.3(GARS):c.373G>A (p.Glu125Lys)	GARS	Nov 22, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	7	30599995	AAAGATGATATTGTAGACCGAGCAAAAATGGAAGATACCCTGAAGAGGAGGTTTTTCTATG
80359015	67100	NM_000059.3(BRCA2):c.7886G>A (p.Trp2629Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32362603	GGGTTTATAATCACTATAGATGGATCATATGGAAACTGGCAGCTATGGAATGTGCCTTTCC
587784465	169451	NM_001083962.1(TCF4):c.655+1G>A	TCF4	Feb 08, 2013	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896	Pitt-Hopkins syndrome	germline	18	55279550	GCACTTTCCCTAGCTCCTTCTTCATGCAAGGTAAGATGCTGCTGCTTCTGAGGGAAAGGCC
77375493	38718	NM_004972.3(JAK2):c.1849G>A (p.Val617Ile)	JAK2	Mar 08, 2012	MedGen:C3281125,OMIM:614521	Thrombocythemia 3	germline	9	5073770	AAGCATTTGGTTTTAAATTATGGAGTATGTGTCTGTGGAGACGAGAGTAAGTAAAACTACA
74315423	16232	NM_001029871.3(RSPO4):c.218G>A (p.Cys73Tyr)	RSPO4	Dec 01, 2006	MedGen:C0265998,OMIM:206800,Orphanet:ORPHA79143,SNOMED CT:23610003	Anonychia	germline	20	968000	TCCGCCAGTACGGCAAGTGCCTGCACGACTGTCCCCCTGGGTACTTCGGCATCCGCGGCCA
397515470	76956	NM_001101.4(ACTB):c.349G>A (p.Glu117Lys)	ACTB	Sep 17, 2015	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995	Baraitser-Winter syndrome 1	germline	7	5529175	GAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATGACCCAGGTGAGTGGCCCGCTAC
137852487	25083	NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu)	HPRT1	Sep 26, 2017	na;MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	HPRT NEW HAVEN;Lesch-Nyhan syndrome	germline	X	134475255	ATCACATTGTAGCCCTCTGTGTGCTCAAGGGGGGCTATAAATTCTTTGCTGACCTGCTGGA
797045160	205613	NM_000492.3(CFTR):c.1117-1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117542015	ATAATATGTTTTTGCTCTCTTTTATAAATAGGATTTCTTACAAAAGCAAGAATATAAGACA
137852768	23784	NM_004168.3(SDHA):c.1664G>A (p.Gly555Glu)	SDHA	Apr 27, 2017	MedGen:C3150898,OMIM:613642;MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208	Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency	not provided	5	251338	TGCCCCTGATGGAACTTTTTGTGTCCCCAGGAATGGTCTGGAACACGGACCTGGTGGAGAC
386833443	70600	NM_000100.3(CSTB):c.66G>A (p.Gln22=)	CSTB	Nov 25, 2014	MedGen:C0751785,OMIM:254800,Orphanet:ORPHA308,SNOMED CT:230423006	Unverricht-Lundborg syndrome	germline	21	43776204	CACCGCCGAGACCCAGCACATCGCCGACCAGGTGGGTGGGCCGCGGGGACGGGGCCGGCCC
587776597	19529	NM_020451.2(SEPN1):c.1385G>A (p.Sec462=)	SELENON	Sep 01, 2001	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	Eichsfeld type congenital muscular dystrophy	germline	1	25812790	TGTGGGGGGCCCTGGATGACCAGTCCTGCTGAGGTGAGGGGCCCGGCTGGATCTAAGGGGA
387907289	45792	NM_004984.3(KIF5A):c.704G>A (p.Gly235Glu)	KIF5A	Aug 01, 2012	MedGen:C1858712,OMIM:604187,Orphanet:ORPHA100991	Spastic paraplegia 10	germline	12	57567608	GTGGGAAGCTGTATCTGGTGGACCTGGCAGGGAGTGAGAAGGTAGGGGGTCCTGTGGATAT
121918571	28199	NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr)	RAG1	Dec 15, 2007	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006	Histiocytic medullary reticulosis	germline	11	36574287	TCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTAC
886041130	265048	NM_000044.4(AR):c.1886-1G>A	AR	May 04, 2016	MedGen:CN517202	not provided	germline	X	67711401	ATAAATTCAAGTCTCTCTTCCTTCCCAATAGCCCGGAAGCTGAAGAAACTTGGTAATCTGA
387907042	39839	NM_014049.4(ACAD9):c.797G>A (p.Arg266Gln)	ACAD9	Dec 01, 2010	MedGen:C1970173,OMIM:611126,Orphanet:ORPHA99901	Acyl-CoA dehydrogenase family, member 9, deficiency of	germline	3	128899450	ATGGGAAACCCGAAGATAAATTAGGCATTCGGGGCTCCAACAGTAAGTAGCTCCTGTGCGC
886039548	260163	NM_000267.3(NF1):c.204+1G>A	NF1	Sep 29, 2017	MedGen:CN517202	not provided	germline	17	31156127	ACTACTATTTTAAAGAATGTTAACAATATGGTGAGTATTTGGGTTACTGTGTTTTGGGGAA
121909578	32645	NM_001738.4(CA1):c.740G>A (p.Arg247His)	CA1	Jul 29, 1977	MedGen:C4015932	Carbonic anhydrase I deficiency	germline	8	85328606	ATAACGCTGTCCCCATGCAGCACAACAACCGCCCAACCCAACCTCTGAAGGGCAGAACAGT
879255235	65652	NM_018684.3(ZC4H2):c.593G>A (p.Arg198Gln)	ZC4H2	Jun 08, 2017	MedGen:C0796200,OMIM:314580,Orphanet:ORPHA3454;MedGen:CN517202	Wieacker syndrome;not provided	germline	X	64917865	CCTGCTTGTCATGTCACCAGCAAATTCACCGGAATGCACCTATATGCCCTCTTTGCAAGGC
587776943	48565	NM_001310338.1(MGME1):c.456G>A (p.Trp152Ter)	MGME1	Feb 01, 2013	MedGen:C3554462,OMIM:615084,Orphanet:ORPHA352447	Mitochondrial DNA depletion syndrome 11	germline	20	17970315	AAAACAACAGGTTTTCTTGTTGGAGAGGTGGAAACAGCGGATGATTCTGGAACTGGGAGAA
371977235	437669	NM_000340.1(SLC2A2):c.963+1G>A	SLC2A2	Sep 08, 2017	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006	Diabetes mellitus type 2	unknown	3	171005284	GTGGCTCAGCAATTTTCCGGAATCAATGGCGTAAGTTTAAGAACACCCACTAACTCTTAAG
515726205	136363	NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg)	C19orf12	Mar 16, 2017	Human Phenotype Ontology:HP:0007830,MedGen:C4024790;Human Phenotype Ontology:HP:0001332,MedGen:C0013421;Human Phenotype Ontology:HP:0001268,MedGen:C0234985;MedGen:C3280371,OMIM:614298,Orphanet:ORPHA289560;Human Phenotype Ontology:HP:0007994,MedGen:C0241688;MedGen:C2680446,OMIM:615043,Orphanet:ORPHA320370;Human Phenotype Ontology:HP:0001337,MedGen:C0040822	Adult-onset night blindness;Dystonia;Mental deterioration;Neurodegeneration with brain iron accumulation 4;Peripheral visual field loss;Spastic paraplegia 43, autosomal recessive;Tremor	germline;unknown	19	29702966	ACGATTCCATGTTTTCTAGGGGGGGCTGTCGGGGGGCTGTTAGGTGCCTGGATGACAAGTG
121908226	23539	NM_001127221.1(CACNA1A):c.5266G>A (p.Glu1756Lys)	CACNA1A	Dec 04, 2007	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Episodic ataxia type 2	germline	19	13231847	TTTCTCCCTGTCCTCAGGAGTGCCACCGGGGAAGCTTGGCACAACATCATGCTTTCCTGCC
587779554	107004	NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006955	TTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTG
77975504	20033	NM_021625.4(TRPV4):c.1781G>A (p.Arg594His)	TRPV4	May 27, 2016	MedGen:C0027868,Orphanet:ORPHA68381;MedGen:C1868616,OMIM:168400,Orphanet:ORPHA2646;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:C0265280,OMIM:184252,Orphanet:ORPHA93314;MedGen:CN517202	Neuromuscular Diseases;Parastremmatic dwarfism;Skeletal dysplasia;Spondylometaphyseal dysplasia, Kozlowski type;not provided	germline;unknown	12	109792695	TGGGCTGGATGAATGCCCTTTACTTCACCCGTGGGCTGAAGCTGACGGGGACCTATAGCAT
587780305	134113	NM_030928.3(CDT1):c.832+1G>A	CDT1	Mar 28, 2013	MedGen:C3151120,OMIM:613804	Meier-Gorlin syndrome 4	germline	16	88805870	AGCTCACCATCGAGCCACTGCTGGAGCAGGGTGAGTGCTGGGTGCGGGACCTCGGTTTCCC
864321690	216946	NM_100264.2(WAC):c.1586G>A (p.Trp529Ter)	WAC	Nov 01, 2015	MedGen:C4225239,OMIM:616708	Desanto-shinawi syndrome	germline	10	28616337	GTGAAAATCTCATAAAACACGTTCAAGGATGGCCTGCAGATCATGCAGAGAAGCAGGTATG
199474673	24595	m.5521G>A	MT-TW	Jun 01, 1998	Human Phenotype Ontology:HP:0003737,MedGen:C0162670,OMIM:251900,Orphanet:ORPHA206966	Mitochondrial myopathy	germline	MT	5521	CTTTTATACTAATAATCTTATAGAAATTTAGGTTAAATACAGACCAAGAGCCTTCAAAGCC
199476143	24587	m.1606G>A	MT-TV	Jun 01, 2002	MedGen:C4016634	Ataxia, progressive seizures, mental deterioration, and hearing loss	germline	MT	1606	GTACTGGAAAGTGCACTTGGACGAACCAGAGTGTAGCTTAACACAAAGCACCCAACTTACA
180177234	200509	NM_000030.2(AGXT):c.525-1G>A	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240872978	CTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGT
771427957	191552	NM_005609.3(PYGM):c.1768+1G>A	PYGM	Nov 14, 2016	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009;MedGen:CN517202	Glycogen storage disease, type V;not provided	germline	11	64751923	ACTGCCTCCATGTCATCACCCTGTACAACCGTGAGTGGCAGCCACTCTACCCTGTCTCTCA
267607025	20432	NM_015713.4(RRM2B):c.329G>A (p.Arg110His)	RRM2B	Apr 17, 2014	MedGen:C3150172;MedGen:CN187502	Mitochondrial DNA depletion syndrome 8B (MNGIE type);RRM2B-related mitochondrial disease	germline	8	102225011	ATCTATTTTCCTTATCTTCTTAGGTGGAGCGCTTTAGTCAGGAGGTGCAGGTTCCAGAGGC
121908750	22222	NM_000492.3(CFTR):c.271G>A (p.Gly91Arg)	CFTR	Apr 01, 1993	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117509140	TTTATGTTCTATGGAATCTTTTTATATTTAGGGGTAAGGATCTCATTTGTACATTCATTAT
121918290	17784	NM_004183.3(BEST1):c.715G>A (p.Val239Met)	BEST1	Oct 01, 2004	MedGen:C2674009,Orphanet:ORPHA263347	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma	germline	11	61958146	TTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCC
267606603	15395	NM_000267.3(NF1):c.1260+1G>A	NF1	Apr 30, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline;unknown	17	31201486	GTAAATTCACTCCATCGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTAAATTACTAA
372267274	181724	NM_001128425.1(MUTYH):c.389-1G>A	MUTYH	Aug 09, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798	Hereditary cancer-predisposing syndrome;MYH-associated polyposis	germline	1	45333171	CAGTGTCCTCATGCCAACCCCTTTCCCCCAGTGTGGGTCTCAGAGGTCATGCTGCAGCAGA
267607114	16413	NM_001142301.1(TMEM67):c.1391G>A (p.Gly464Glu)	TMEM67	Jan 01, 2007	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	germline	8	93793256	CTGTTTTAGCATCTCTTTTGAAGACAGCAGGATGGAAGAGGCGCATTGGGAGTCCCATGAT
1057520671	368396	NM_022455.4(NSD1):c.4765+1G>A	NSD1	Apr 30, 2015	MedGen:CN517202	not provided	germline	5	177251854	GAAAATTTATCTGCAATGAATGTCGCACAGGTAAAGTAGATATCGAACGGTCTTCCTCCAA
128620183	26381	NM_000061.2(BTK):c.1574G>A (p.Arg525Gln)	BTK	Feb 17, 2017	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	Agammaglobulinemia, non-Bruton type;X-linked agammaglobulinemia	germline	X	101354687	ACTGGTCTCTGTTTGCACTACAGGCAGCTCGAAACTGTTTGGTAAACGATCAAGGAGTTGT
1064792872	224771	NM_001257988.1(TYMP):c.893G>A (p.Gly298Asp)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526611	AGGAGGCGCTGCTCTGCATGGACGGCGCAGGCCCGCCAGACTTAAGGGACCTGGTCACCAC
72556302	103153	NM_000531.5(OTC):c.590G>A (p.Gly197Glu)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403667	AAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACTCCATCATGATGAG
587776838	31416	NM_021870.2(FGG):c.307+5G>A	FGG	Oct 01, 2000	MedGen:C2584774,OMIM:202400,Orphanet:ORPHA98880	Afibrinogenemia, congenital	germline	4	154612013	TAATCCTGATGAATCATCAAAACCAAGTGAGAAAATAAAGACTACTGACCAAAAAATAATA
386833440	70597	NM_000100.3(CSTB):c.168G>A (p.Lys56=)	CSTB	Nov 25, 2014	MedGen:C0751785,OMIM:254800,Orphanet:ORPHA308,SNOMED CT:230423006	Unverricht-Lundborg syndrome	germline	21	43774658	GGTGGTCGCGGGGACAAACTACTTCATCAAGGTAGAGTGTGGGCCTCAGGAGGGCCTGCCC
121918641	27895	NM_003126.3(SPTA1):c.83G>A (p.Arg28His)	SPTA1	May 03, 2017	MedGen:C1851741,OMIM:130600;Human Phenotype Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED CT:9434008;MedGen:CN517202;MedGen:CN169374	Elliptocytosis 2;Hereditary pyropoikilocytosis;not provided;not specified	germline	1	158685289	TGGAAACAGCAGAAGAGATCCAGGAGAGGCGTCAGGAAGTGTTGACTCGGTATCAAAGTTT
-1	441151	NM_194456.1(KRIT1):c.486-1G>A	KRIT1	Oct 17, 2016	MedGen:CN517202	not provided	germline	7	92235647	GCTACTTCTACCTGTTTTTTTATTTTGCCAGGTGGTTAGATGAACGTCATGCACAATCTCA
753887925	16951	NM_000411.7(HLCS):c.1519+5G>A	HLCS	Nov 01, 2001	MedGen:C0268581,OMIM:253270,Orphanet:ORPHA79242	Holocarboxylase synthetase deficiency	germline	21	36767213	CGCGGCCCGGCAGACCGAGGGCAAAGGTCAGTCATCTTTTGTGATCATTGCTGTTACTTCT
121918513	28285	NM_002739.4(PRKCG):c.383G>A (p.Gly128Asp)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	germline	19	53889735	GCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGTGAGTGACCTGGGCC
104893877	29046	NM_000345.3(SNCA):c.157G>A (p.Ala53Thr)	SNCA	Mar 10, 2017	MedGen:C0752347,OMIM:127750;MedGen:C1868595,OMIM:168601;MedGen:C1868595,OMIM:168601	Lewy body dementia;Parkinson disease 1;Parkinson disease 1	germline	4	89828149	AAAACCAAGGAGGGAGTGGTGCATGGTGTGGCAACAGGTAAGCTCCATTGTGCTTATATCC
875989926	228179	NM_000527.4(LDLR):c.1705+1G>A	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11116213	ACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGG
730882070	40143	NM_005786.5(TSHZ1):c.723G>A (p.Trp241Ter)	TSHZ1	Mar 01, 2014	MedGen:C1842937,OMIM:607842	Aural atresia, congenital	germline	18	75286265	GGACAAGGACTCCGAGAAGACCAAGAGGTGGTCCAAGCCCAGGAAGCGCTCCCTGATGGAG
121912748	32806	NM_000342.3(SLC4A1):c.2102G>A (p.Gly701Asp)	SLC4A1	Jan 01, 2003	MedGen:C1969038,OMIM:611590,Orphanet:ORPHA93610	Renal tubular acidosis, distal, with hemolytic anemia	germline	17	44253327	AACCTGAGCGCAAGATGGTCAAGGGCTCCGGCTTCCACCTGGACCTGCTGCTGGTAGTAGG
111033574	19658	NM_021830.4(TWNK):c.1422G>A (p.Trp474Ter)	TWNK	Jul 01, 2001	MedGen:C1836439,OMIM:609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	germline	10	100989822	GGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTAT
386134135	51334	NM_000096.3(CP):c.395-1G>A	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149210380	CTTTGCACCTTCATTGCATGTTGCTTCCTAGGGGCCATCTACCCTGATAACACCACAGATT
137853205	33306	NM_000476.2(AK1):c.190G>A (p.Gly64Arg)	AK1	Jul 01, 2003	MedGen:C2675459,OMIM:612631,Orphanet:ORPHA86817	Adenylate kinase deficiency, hemolytic anemia due to	germline	9	127872707	GGCAAGAAGCTGTCGGAAATCATGGAGAAGGGGCAGCTGGTTCCACTGGTGAGTGGGCCCT
267606924	15219	NM_000274.3(OAT):c.824G>A (p.Trp275Ter)	OAT	Jan 29, 1993	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124403003	TACAGACAGGATTGGCCAGAACTGGTAGATGGCTGGCTGTTGATTATGAAAATGTCAGACC
104886185	35871	NM_000495.4(COL4A5):c.2509G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108615024	CCAGGGATTCCTGGGCCAATAGGTCAACCTGGTAAGATTAGAGTAAATGTGCATTTTGTAG
797044488	172117	NM_170707.3(LMNA):c.1968+5G>A	LMNA	Aug 01, 2015	MedGen:C4016241;MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004	Hutchinson-Gilford progeria syndrome, atypical;Hutchinson-Gilford syndrome	germline	1	156138762	TGGGCAACTCCAGCCCCCGAACCCAGGTGAGTTGTCTCTGCTTTGTCTCCAAATCCTGCAG
104886365	35596	NM_000495.4(COL4A5):c.276+5G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108563931	GGCCACCAGGACCAAAAGGAATCAGAGTAAGTAGTATTTTCTCTATATCAAATACTTTGTT
121918377	28236	NM_006907.3(PYCR1):c.356G>A (p.Arg119His)	PYCR1	Sep 01, 2009	MedGen:C2751987,OMIM:612940,Orphanet:ORPHA357064	Autosomal recessive cutis laxa type 2B	germline	17	81935110	CAGCGTTTCGGCCAGCCCCCAGGGTCATCCGCTGCATGACCAACACTCCAGTCGTGGTGCG
28937588	21280	NM_004700.3(KCNQ4):c.853G>A (p.Gly285Ser)	KCNQ4	Aug 20, 2015	MedGen:C2677637,OMIM:600101;MedGen:CN043648,Orphanet:ORPHA87884	DFNA 2 Nonsyndromic Hearing Loss;Nonsyndromic hearing loss and deafness	germline	1	40819893	TTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGC
66664580	468237	NM_000088.3(COL1A1):c.1012G>A (p.Gly338Ser)	COL1A1	May 17, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline	17	50195967	ACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTG
374928784	101830	NM_019109.4(ALG1):c.1187+1G>A	ALG1	Apr 20, 2016	MedGen:CN517202	not provided	germline	16	5082674	TTTGCCTGTGTGTGCTGTGAACTTCAAGTGGTAGGAGCAGAACCCAAATCCTTCTGGGGAT
797045207	207848	NM_000352.4(ABCC8):c.2117-1G>A	ABCC8	Jul 29, 2015	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline	11	17427155	CACTCACATCTGCCACCCTCCCTCCCTGCAGGCCAGCTGACTATGATCGTGGGGCAGGTGG
864622520	222372	NM_015915.4(ATL1):c.757G>A (p.Val253Ile)	ATL1	Aug 24, 2016	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984;MedGen:CN517202	Spastic paraplegia 3;not provided	germline	14	50614406	TCAGGGAACCAGCATGAAGAACTACAGAACGTCAGAAAACACATCCATTCCTGTTTCACCA
142422525	181591	NM_006702.4(PNPLA6):c.3382G>A (p.Gly1128Ser)	PNPLA6	Mar 19, 2015	MedGen:C1848745,OMIM:275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	germline	19	7558948	GACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATC
387907348	51196	NM_001130004.1(ACTN1):c.137G>A (p.Arg46Gln)	ACTN1	Mar 07, 2013	MedGen:C3554663,OMIM:615193	Platelet-type bleeding disorder 15	germline	14	68925641	CATTCACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGATCGAGAACATCGA
34139950	434365	NM_015991.3(C1QA):c.648G>A (p.Trp216Ter)	C1QA	Sep 28, 2017	MedGen:C3150902,OMIM:613652	C1q deficiency	germline	1	22639317	GCTTCAGCTGCAGCAGGGTGACCAGGTCTGGGTTGAAAAAGACCCCAAAAAGGGTCACATT
104886381	35989	NM_000495.4(COL4A5):c.3554-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108667132	TTTTGTTTTGTTTTGTTTTGTACTCTGACAGGTCAACCAGGCTTTGGAAACCCAGGACCCC
80358702	66379	NM_000059.3(BRCA2):c.475G>A (p.Val159Met)	BRCA2	Jul 17, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	germline	13	32326150	ACACATGTAACACCACAAAGAGATAAGTCAGGTATGATTAAAAACAATGCTTTTTATTCTT
796051895	199925	NM_145207.2(SPATA5):c.298G>A (p.Ala100Thr)	SPATA5	Sep 03, 2015	MedGen:C4225276,OMIM:616577,Orphanet:ORPHA457351	Epilepsy, hearing loss, and mental retardation syndrome	germline	4	122929049	TTTATTTCCTCTGTCTGGCAGGTGTATACAGCCTGGCCTATGGCAGGATTTCCTGGAGGCA
121912298	47535	NM_001363.4(DKC1):c.1050G>A (p.Met350Ile)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154773144	TTATTCAATGCCTGTAGCTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCAT
1057517662	359045	NM_001309443.1(SPARC):c.494G>A (p.Arg165His)	SPARC	Aug 05, 2015	MedGen:C4225301,OMIM:616507	Osteogenesis imperfecta, type xvii	germline	5	151667555	TGGACTCTGAGCTGACCGAATTCCCCCTGCGCATGCGGGACTGGCTCAAGAACGTCCTGGT
104886144	35798	NM_000495.4(COL4A5):c.1886G>A (p.Gly629Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598808	CTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGT
121917832	23862	NM_004064.4(CDKN1B):c.227G>A (p.Trp76Ter)	CDKN1B	Nov 01, 2010	MedGen:C1970712,OMIM:610755,Orphanet:ORPHA276152	Multiple endocrine neoplasia, type 4	germline	12	12718066	ATCACAAACCCCTAGAGGGCAAGTACGAGTGGCAAGAGGTGGAGAAGGGCAGCTTGCCCGA
104893743	18569	NM_153281.1(HYAL1):c.802G>A (p.Glu268Lys)	HYAL1	May 25, 1999	MedGen:C1291490,OMIM:601492,Orphanet:ORPHA67041,SNOMED CT:124473006	Deficiency of hyaluronoglucosaminidase	germline	3	50302155	TCACAGATGTATGTGCAACACCGTGTGGCCGAGGCATTCCGTGTGGCTGTGGCTGCTGGTG
138025751	200476	NM_000030.2(AGXT):c.353G>A (p.Arg118His)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869357	GGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGAT
202247805	46960	NM_014252.3(SLC25A15):c.658G>A (p.Gly220Arg)	SLC25A15	May 31, 2012	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	not provided	13	40808473	GTACCTTTGATGTTAAGTGGTGGAGTTGGTGGGATTTGCCTCTGGCTTGCGGTATACCCAG
886041609	264242	NM_015570.3(AUTS2):c.1974G>A (p.Trp658Ter)	AUTS2	Feb 26, 2016	MedGen:CN517202	not provided	germline	7	70777144	GTGGTGTGCTATGCATGTTCACATCGCCTGGCAGATTTACCACCACCAACAGAAAGTCAAG
387906485	25972	NM_000397.3(CYBB):c.252G>A (p.Ala84=)	CYBB	Mar 23, 2017	MedGen:C1844376,OMIM:306400;MedGen:CN517202	Chronic granulomatous disease, X-linked;not provided	germline	X	37783600	TCTGCTGTCCTTCCTCAGGGGTTCCAGTGCGGTAAGAGAAAATGTTTTACTAAGTTCCTCT
137852801	33418	NM_000079.3(CHRNA1):c.517G>A (p.Gly173Ser)	CHRNA1	Jul 25, 2017	MedGen:C1854678,OMIM:253290,Orphanet:ORPHA33108,SNOMED CT:60192008;MedGen:C0751885,OMIM:601462	Lethal multiple pterygium syndrome;Myasthenic syndrome, slow-channel congenital	germline	2	174754242	AGCATGAAGCTGGGCACCTGGACCTACGACGGCTCTGTCGTGGCCATCAACCCGGTAGGTG
121912938	32219	NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg)	COL6A1	Sep 13, 2017	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090;MedGen:C4015958;MedGen:CN517202	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Ullrich congenital muscular dystrophy 1, autosomal dominant;not provided	germline	21	45989129	CCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTG
727503120	176320	NM_002294.2(LAMP2):c.183+1G>A	LAMP2	Nov 12, 2016	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006	Danon disease	germline	X	120456650	GTACGCTATGAAACTACAAATAAAACTTATGTAAGTATATATTTTAATTTTTCTTTGAGTT
754558574	445946	NM_000227.4(LAMA3):c.3881+1G>A	LAMA3	Nov 23, 2015	MedGen:CN517202	not provided	germline	18	23932292	GGGTTGTATTAGCAATGTTTTTGTCCAGAGGTAGGTGATCCTCTCTTTGTGGGTAACTGAT
745891180	21711	NM_003494.3(DYSF):c.5057+5G>A	DYSF	Apr 10, 2000	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71664443	TGTGGACTCCCACAGACCTACTGTGTGTACGTGGATGGGGGCTGGCTGCCTGCTTCTCTGA
762765702	414714	NM_177973.1(SULT2B1):c.821G>A (p.Arg274Gln)	SULT2B1	Jul 13, 2017	MedGen:C1855792,OMIM:242100;MedGen:CN317536,OMIM:617571	Autosomal recessive congenital ichthyosis 2;ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14	germline	19	48596914	TGCTGGACCACCGTCGCGGGGCCTTCCTCCGGAAAGGTGCGGGGGTTCTGGGGTTCAGAGC
1131691149	421089	NM_000051.3(ATM):c.8879G>A (p.Trp2960Ter)	ATM	Oct 05, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108365110	AGGTCCTTCTATATGATCCACTCTTTGACTGGACCATGAATCCTTTGAAAGCTTTGTATTT
146600671	36419	NM_000060.4(BTD):c.1369G>A (p.Val457Met)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645225	CACACAGTACATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTGTGGGGGTCTTG
267606970	18270	NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser)	POMT2	May 26, 2009	MedGen:C3150411,OMIM:613150;MedGen:C3150416,OMIM:613156	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	germline	14	77296223	ATCACTGTGAAGAACCTCCGGATGGCCATCGGCTATCTGCACTCCCACAGGCACCTCTACC
786201037	181592	NM_006702.4(PNPLA6):c.3152G>A (p.Arg1051Gln)	PNPLA6	Mar 19, 2015	MedGen:C1848745,OMIM:275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	germline	19	7556710	TGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCC
80358312	21328	NM_002335.3(LRP5):c.1709G>A (p.Arg570Gln)	LRP5	Nov 01, 2004	MedGen:C4016839	Exudative vitreoretinopathy 4, autosomal recessive	germline	11	68403607	GGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGT
104894720	27568	NM_000660.6(TGFB1):c.653G>A (p.Arg218His)	TGFB1	Mar 05, 2015	Human Phenotype Ontology:HP:0100252,MedGen:C0011989,OMIM:131300,SNOMED CT:34643004	Diaphyseal dysplasia	germline	19	41342229	CCACTCCTACAGGGGAAATTGAGGGCTTTCGCCTTAGCGCCCACTGCTCCTGTGACAGCAG
397508122	67752	NM_000218.2(KCNQ1):c.683+5G>A	KCNQ1	Jun 11, 2015	MedGen:CN517202	not provided	germline	11	2571408	CAGGTGTTTGCCACGTCGGCCATCAGGTGCGTCTGTGCCACAAGCTCCCCCCGCCATGCCG
730881581	180665	NM_000059.3(BRCA2):c.8174G>A (p.Trp2725Ter)	BRCA2	Nov 14, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	germline	13	32363376	AAGTGGCCATTATTGAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTTAGATCCTCC
121909835	38829	NM_000440.2(PDE6A):c.2053G>A (p.Val685Met)	PDE6A	Nov 01, 2010	MedGen:C3151139,OMIM:613810	Retinitis pigmentosa 43	germline	5	149883511	TGTAGGAAGAGGACGATGTTCCAAAAGATCGTGGATCAGTCTAAGACATATGAGAGTGAAC
121909302	23206	NM_000436.3(OXCT1):c.656G>A (p.Gly219Glu)	OXCT1	Sep 01, 2000	MedGen:C0342792,OMIM:245050,Orphanet:ORPHA832,SNOMED CT:238004006	Succinyl-CoA acetoacetate transferase deficiency	germline	5	41842690	TGGTGAAAGCCTGGAAGGCGGACCGAGCAGGAAACGTGATTTTCAGGTATTGTGATAGTTT
78973108	19367	NM_000157.3(GBA):c.887G>A (p.Arg296Gln)	GBA	May 06, 2016	MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1842704,OMIM:608013,Orphanet:ORPHA85212;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009;MedGen:CN517202	Gaucher disease;Gaucher disease, perinatal lethal;Gaucher's disease, type 1;not provided	germline	1	155237453	AGTGCCTGGGCTTCACCCCTGAACATCAGCGAGACTTCATTGCCCGTGACCTAGGTCCTAC
794728208	197723	NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn)	FBN1	May 14, 2015	MedGen:CN517202	not provided	germline	15	48485374	GCACTAATGCCTGACCAGAGATCATGCACCGGTGAGTAGGTTCTAGCCTCATGTTGAATCT
111033806	36651	NM_000155.3(GALT):c.1018G>A (p.Glu340Lys)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649523	GCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCA
120074181	18154	NM_000218.2(KCNQ1):c.916G>A (p.Gly306Arg)	KCNQ1	Apr 28, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 1;not provided	germline	11	2572981	TTCGGCAGCTACGCAGATGCGCTGTGGTGGGGGGTGGTAAGTCGGAAACTTCCAGGCATGG
863225321	214694	NM_000038.5(APC):c.1959-1G>A	APC	Apr 03, 2017	MedGen:C2713442,OMIM:175100;MedGen:CN517202	Familial adenomatous polyposis 1;not provided	germline;unknown	5	112837552	TTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACA
786201028	181569	NM_000086.2(CLN3):c.494G>A (p.Gly165Glu)	CLN3	Jun 10, 2014	MedGen:C4017059	Ceroid lipofuscinosis, neuronal, 3, protracted	germline	16	28486617	TGGTCTTCGCTAGCATCTCATCAGGCCTTGGGGAGGTCACCTTCCTCTCCCTCACTGCCTT
745858366	199923	NM_145207.2(SPATA5):c.251G>A (p.Arg84Gln)	SPATA5	Apr 03, 2017	MedGen:CN517202	not provided	germline	4	122927721	CTATGAAGTCTGCAAATATATGTATAGGTCGACCAGTGTTGCTTACTAGTTTGAACGGAAA
374317179	101483	NM_014384.2(ACAD8):c.384G>A (p.Met128Ile)	ACAD8	Mar 07, 2017	MedGen:C1969809,OMIM:611283,Orphanet:ORPHA79159,SNOMED CT:445274004;MedGen:CN517202	Deficiency of isobutyryl-CoA dehydrogenase;not provided	germline	11	134258518	GTCTTTTCTTCTTGGTGTACCTATCAGCATGTGTGCCTGGATGATTGATAGCTTCGGAAAT
151344518	46953	NM_006796.2(AFG3L2):c.2012G>A (p.Gly671Glu)	AFG3L2	May 17, 2011	MedGen:C1853249,OMIM:610246,Orphanet:ORPHA101109	Spinocerebellar ataxia 28	not provided	18	12337504	TTGTTCAGTTTGGCATGAATGAAAAGGTTGGGCAAATCTCCTTTGACCTCCCACGTCAGGG
200972872	425565	NM_000094.3(COL7A1):c.5820G>A (p.Pro1940=)	COL7A1	Jun 09, 2017	MedGen:CN517202	not provided	germline	3	48576249	TGGCCTGCGAGGAGAGCCTGGAAGTGTGCCGGTGAGCCAGGCTTGGGATGTCCCCTTGACT
794729296	198922	NM_001256850.1(TTN):c.79974G>A (p.Trp26658Ter)	TTN	Apr 01, 2014	MedGen:CN517202	not provided	germline	2	178561235	TGAACGCAGAGAACTACCAGATGGCCGGTGGCTGAAGTGCAATTATACTAATATACAAGAA
-1	488090	NM_174889.4(NDUFAF2):c.9G>A (p.Trp3Ter)	NDUFAF2	Mar 16, 2018	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	5	60945264	CGCTGGAAACTGGGTGGACGGCATGGGTTGGTCTCAGGATTTGTTCCGCGCCTTGTGGAGA
199476105	24728	m.14459G>A	MT-ND6	Mar 19, 2015	MedGen:C1839040,OMIM:500001;Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838951	Leber hereditary optic neuropathy with dystonia;Leber's optic atrophy;Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency	germline	MT	14459	CATGCCTCAGGATACTCCTCAATAGCCATCGCTGTAGTATATCCAAAGACAACCATCATTC
1057516150	354143	NM_023067.3(FOXL2):c.293G>A (p.Trp98Ter)	FOXL2	Nov 03, 2016	MedGen:C0220663,OMIM:110100,Orphanet:ORPHA126	Blepharophimosis, ptosis, and epicanthus inversus	germline	3	138946430	TCCCGTTCTACGAGAAGAATAAGAAGGGCTGGCAAAATAGCATCCGCCACAACCTCAGCCT
-1	431491	NM_001014797.2(KCNMA1):c.2662G>A (p.Glu888Lys)	KCNMA1	Aug 30, 2017	MedGen:C1836173,OMIM:609446,Orphanet:ORPHA79137	Generalized epilepsy and paroxysmal dyskinesia	germline	10	76944851	AATATTGATGATACTTCGCTGCAGGACAAGGAATGCATCTTGGCGTCACTCAACATCAAAT
-1	442815	NM_001029882.3(AHDC1):c.2327G>A (p.Trp776Ter)	AHDC1	Sep 22, 2017	MedGen:CN517202	not provided	germline	1	27549789	CTGAGTGGGCCGGGGATAAGGGTGGTGGCTGGGCCCCTCACCATGGGCACCCAGGCGGACA
869312918	226868	NM_018122.4(DARS2):c.127+1G>A	DARS2	Nov 12, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	1	173825357	TGTTGCAGAGTTCACAGAGGAGAATTCCAGGTGAAAATAGCGAAGAGATCTATCCTATGAA
750014782	215641	NM_001320327.1(CHCHD2):c.300+5G>A	CHCHD2	Jul 01, 2015	MedGen:C4225238,OMIM:616710	Parkinson disease 22, autosomal dominant	germline	7	56104221	CTGCGAGGCCTGACATCACTTACCAGGTGGGAATTTAGGCAGCATTTCCCTTCCATGGGTG
-1	442685	NM_018136.4(ASPM):c.8987+1G>A	ASPM	Aug 11, 2016	MedGen:CN517202	not provided	germline	1	197095997	TTGCTTCTATACCAAACTAGAGAGAACACGGTAATGTATCATAGTTCTGTGGAGAGTGTAA
281864975	47632	NM_024312.4(GNPTAB):c.1325G>A (p.Cys442Tyr)	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101768120	CATGGCCTGTGCCAAACTGTGCCGAGGGCTGCCCAGGTTCCTGGATTAAGGATGGCTATTG
869312700	225868	NM_005249.4(FOXG1):c.821G>A (p.Arg274Gln)	FOXG1	Jan 14, 2016	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	de novo	14	28768100	TGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCACCACCTCGCGGGCCAAGCT
199472855	78356	NM_000238.3(KCNH2):c.299G>A (p.Arg100Gln)	KCNH2	Apr 29, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150974719	AGGAGCGCAAAGTGGAAATCGCCTTCTACCGGAAAGATGGTAGGAGCGGGCCGGGGCGGGG
104893722	20966	NM_006580.3(CLDN16):c.571G>A (p.Gly191Arg)	CLDN16	Jul 02, 1999	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190404905	TACATTAAAGTCCGCATCTGCTTTGTTGCTGGAGCCACGTTACTAATAGCAGGTACCGGTC
121912664	27418	NM_000546.5(TP53):c.1010G>A (p.Arg337His)	TP53	Jul 31, 2017	MedGen:C1859973;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Adrenocortical carcinoma, pediatric;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Neoplasm of the breast;not provided	germline;unknown	17	7670699	CTCTGTTGCTGCAGATCCGTGGGCGTGAGCGCTTCGAGATGTTCCGAGAGCTGAATGAGGC
121909044	22264	NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln)	CFTR	Feb 13, 1997	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117587812	AAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGGTGAATAAC
1085307655	415797	NM_004187.3(KDM5C):c.2319G>A (p.Trp773Ter)	KDM5C	Apr 13, 2017	MedGen:CN517202	not provided	germline	X	53198813	GAAGGTTCGGGCTGAGTCCTTTGACACCTGGGCCAACAAAGTGCGAGTGGCCCTGGAGGTG
879254113	244944	NM_024675.3(PALB2):c.3491G>A (p.Trp1164Ter)	PALB2	Sep 25, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	16	23603529	TCTCTGACCAACATTGGTCTTTTGTGAAATGGTCGGGTACAGACTCTCATTTGCTGGCTGG
17215479	67749	NM_000218.2(KCNQ1):c.643G>A (p.Val215Met)	KCNQ1	Jun 12, 2015	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2571363	GTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAGGTGTTTGCCACGT
128621209	26427	NM_000061.2(BTK):c.1838G>A (p.Gly613Asp)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101353264	ACAGTGAGACTGCTGAACACATTGCCCAAGGCCTACGTCTCTACAGGCCTCATCTGGCTTC
397507303	46378	NM_000059.3(BRCA2):c.316+1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32319326	AAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGTAGACTGGGGAGA
868002181	440682	NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg)	COL4A3	Mar 25, 2016	MedGen:CN517202	not provided	germline	2	227280970	AGGTGCATAGAGGGTCCCAGGGGAGCCCAAGGACTTCCAGGCTTAAATGGATTGAAAGGGC
-1	446650	NM_001039590.2(USP9X):c.1374G>A (p.Trp458Ter)	USP9X	Oct 19, 2017	MedGen:CN517202	not provided	germline	X	41144581	TGTACATGATCTCCTGGCAAAATTGGCATGGGATTTTTCTCCTGAACAACTTGATCATCTT
786205084	33482	NM_003494.3(DYSF):c.5429G>A (p.Arg1810Lys)	DYSF	Aug 09, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71668842	CCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTG
797045359	209255	NM_000052.6(ATP7A):c.2499-1G>A	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78015753	CATGGTGCTTTTTATGTTAACTTATATCCAGTGAAGAACAAGTGGATGTGGAACTTGTACA
104894375	24188	NM_005888.3(SLC25A3):c.215G>A (p.Gly72Glu)	SLC25A3	Mar 01, 2007	MedGen:C1835845,OMIM:610773,Orphanet:ORPHA91130	Mitochondrial phosphate carrier deficiency	germline	12	98595490	GCAGATTCTTTATCCTTTGTGGACTTGGAGGAATTATTAGCTGTGGCACAACACATACAGC
77563738	125897	NM_001282227.1(ADA2):c.380G>A (p.Arg127Gln)	ADA2	Mar 06, 2014	MedGen:C3887654,OMIM:615688	Polyarteritis nodosa, childhoood-onset	germline	22	17207107	GTTCCAAGTGGATTCTGCTGGAGGATTATCGGAAGCGGGTGCAGAACGTCACTGAGTTTGA
797045138	205410	NM_001909.4(CTSD):c.1196G>A (p.Arg399His)	CTSD	Nov 11, 2014	MedGen:C1864669,OMIM:610127,Orphanet:ORPHA228337	Ceroid lipofuscinosis neuronal 10	germline	11	1753546	TCATCGGCCGCTACTACACTGTGTTTGACCGTGACAACAACAGGGTGGGCTTCGCCGAGGC
760891216	259771	NM_000094.3(COL7A1):c.7723G>A (p.Gly2575Arg)	COL7A1	Feb 27, 2016	MedGen:CN517202	not provided	germline	3	48568819	AAGGGAGAGCCTGGTGACAAGGGCTCAGCCGGGTTGCCAGGACTGCGTGGACTCCTGGGAC
587779465	106902	NM_000090.3(COL3A1):c.3509G>A (p.Gly1170Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008126	TTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGGTAAGACATCACTT
876661024	416950	NM_000314.6(PTEN):c.635-1G>A	PTEN	Mar 01, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	PTEN hamartoma tumor syndrome	unknown	10	87957852	AAATAATACTGGTATGTATTTAACCATGCAGATCCTCAGTTTGTGGTCTGCCAGCTAAAGG
80338679	34061	NM_000528.3(MAN2B1):c.2165+1G>A	MAN2B1	May 03, 2012	MedGen:C0024748,OMIM:248500,Orphanet:ORPHA61,SNOMED CT:124466001	Deficiency of alpha-mannosidase	not provided	19	12650103	AGAGTGGTCGGTGGGGCCGATACCTGTGGGGTGAGTGGCACAGGCTGGGAGAGGGGTGTGG
869312168	214167	NM_001615.3(ACTG2):c.113G>A (p.Arg38His)	ACTG2	May 02, 2015	MedGen:C0238062,Orphanet:ORPHA2978	Chronic intestinal pseudoobstruction	germline	2	73901424	CCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGA
371904655	191450	NM_194318.3(B3GLCT):c.1065-1G>A	B3GLCT	Apr 16, 2015	MedGen:C0796012,OMIM:261540	Peters plus syndrome	germline	13	31317565	ATCATGATTTGTGTTCCCTTTGGCATCTCAGTATCTCCAGGCTCCAGCACTTGCTTAGCTG
794728625	197538	NM_130799.2(MEN1):c.784-9G>A	MEN1	Jan 13, 2017	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202;MedGen:CN169374	Multiple endocrine neoplasia, type 1;not provided;not specified	germline	11	64807228	CCTGTTCCGTGGCTCATAACTCTCTCCTTCGGCTCCTAGAAGCTGCTCTGGCTGCTCTATG
121908527	20687	NM_000030.2(AGXT):c.698G>A (p.Arg233His)	AGXT	May 24, 2016	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240875126	TCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGA
398124477	102274	NM_138694.3(PKHD1):c.1694-1G>A	PKHD1	Mar 26, 2013	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52055730	TGCCTTTCTATTTTATCTGAACTGCATCCAGGCCCAGAAGTTTCCAACTCTGATGGGGACC
118204018	16672	NM_000018.3(ACADVL):c.1246G>A (p.Ala416Thr)	ACADVL	Feb 01, 2001	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005	Very long chain acyl-CoA dehydrogenase deficiency	germline	17	7223707	CAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGT
61754011	15344	NM_000552.4(VWF):c.1648G>A (p.Gly550Arg)	VWF	Oct 01, 2006	MedGen:CN517202;MedGen:C1282968,Orphanet:ORPHA166084	not provided;von Willebrand disease, type 2a	germline	12	6057930	GGGCTGGCGGAGCCCCGGGTGGAGGACTTCGGGAACGCCTGGAAGCTGCACGGGGACTGCC
864622358	222013	NM_001080463.1(DYNC2H1):c.2702+1G>A	DYNC2H1	Aug 28, 2015	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	germline	11	103143396	AAAGGGGAAAGAAGTAGAACGACTTCCAAGGTATTGGAGGTTAATGTAGTACTTACGTACC
886039702	260325	NM_003688.3(CASK):c.2100G>A (p.Trp700Ter)	CASK	Aug 09, 2016	MedGen:CN517202	not provided	germline	X	41542746	CAAACAGGAGCAGCAGGCCAGCTGTACTTGGTTTGGCAAGAAAAAGAAGCAGTACAAAGAT
387906303	18745	NM_000527.4(LDLR):c.670G>A (p.Asp224Asn)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105576	TGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGG
753564352	200109	NM_000255.3(MUT):c.1663G>A (p.Ala555Thr)	MUT	Dec 19, 2013	MedGen:C1855114,OMIM:251000;MedGen:CN517202	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	germline	6	49444652	GATGGAAATATCCTGGCTCTTGCAGTGGATGCATCTCGGGCAAGGTGAAGATATATAAGTT
398123108	98234	NM_000033.3(ABCD1):c.1866-10G>A	ABCD1	Nov 18, 2016	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002;MedGen:CN517202	Adrenoleukodystrophy;not provided	germline	X	153743211	TGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGA
886041089	263803	NM_002024.5(FMR1):c.990+1G>A	FMR1	Feb 11, 2016	Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Intellectual disability	de novo	X	147936614	GAAAATGAGAAAAATGTTCCACAAGAAGAGGTATGTTACAGTGCGAATATTTTGTGGCACA
112456072	32257	NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu)	COL3A1	Mar 09, 2000	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008961	CAGGCCACCCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGCCCCTGGTCCTTGCTGTGG
878854441	240029	NM_001277115.1(DNAH11):c.3122G>A (p.Trp1041Ter)	DNAH11	Mar 28, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21600797	GAAACACCCTGGAGACCCACACTTACCTCTGGGTGGATGATCGAGCTGAGTTTATGAAGCA
137852514	25044	NM_000216.3(ANOS1):c.774G>A (p.Trp258Ter)	ANOS1	Sep 01, 1992	MedGen:C1563719,OMIM:308700	Kallmann syndrome 1	germline	X	8585349	TCAACTGACTGACATAAGACCCAGCCGATGGTACCAGTTTCGAGTGGCTGCTGTGAATGTG
397514642	48617	NM_022095.3(ZNF335):c.3332G>A (p.Arg1111His)	ZNF335	Feb 25, 2013	MedGen:C3554499,OMIM:615095,Orphanet:ORPHA329228	Primary autosomal recessive microcephaly 10	germline	20	45950453	AGCCTTTTGCATGCCACCTCTGCGGGCAGCGGTGAGGCCAGATACTGGTGGGTGGGGACTG
34995376	16981	NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His)	LRRK2	Sep 13, 2012	MedGen:C1846862,OMIM:607060	Parkinson disease 8, autosomal dominant	germline	12	40310435	AGAGGGTTTTGTGTCTTTCCCTCCAGGCTCGCGCTTCTTCTTCCCCTGTGATTCTCGTTGG
121908072	19141	NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn)	TMC1	Jun 08, 2015	MedGen:C1847626,OMIM:606705;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal dominant 36;Nonsyndromic hearing loss and deafness	germline	9	72816161	TGTCTCCTCTAGCCTTCATACACCGAATTCGACATCAGTGGCAACGTCCTCGCTCTGATCT
80356700	32571	NM_000083.2(CLCN1):c.689G>A (p.Gly230Glu)	CLCN1	Jul 17, 2017	MedGen:C2936781,OMIM:160800,SNOMED CT:57938005;MedGen:C0027127,Orphanet:ORPHA206973;MedGen:CN517202	Congenital myotonia, autosomal dominant form;Myotonia congenita;not provided	germline	7	143321841	CTGCGGGCCTGGGCAGTGGCATCCCCGTGGGGAAAGAGGTAGGCCTGGCATGACTGAAGCC
104886003	28694	NM_006218.3(PIK3CA):c.1633G>A (p.Glu545Lys)	PIK3CA	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;MedGen:C0858252,Orphanet:ORPHA213528;MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MedGen:C0235782;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0022603,OMIM:182000;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;MedGen:C1865285,OMIM:602501;MeSH:D009303,MedGen:C0027439;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MeSH:D010051,MedGen:CN236629;MedGen:C0279663;MedGen:C0677886,Orphanet:ORPHA398934;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MeSH:C538614,MedGen:C1336078;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;Human Phenotype Ontology:HP:0100242,MedGen:C1261473;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Brainstem glioma;Breast adenocarcinoma;Carcinoma of colon;Carcinoma of esophagus;Carcinoma of gallbladder;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Keratosis, seborrheic;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Megalencephaly cutis marmorata telangiectatica congenita;Nasopharyngeal Neoplasms;Neoplasm of brain;Neoplasm of stomach;Neoplasm of the breast;Non-small cell lung cancer;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Ovarian epithelial cancer;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;Sarcoma;Small cell lung cancer;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;Uterine cervical neoplasms	somatic	3	179218303	TCTACACGAGATCCTCTCTCTGAAATCACTGAGCAGGAGAAAGATTTTCTATGGAGTCACA
1060500273	401699	NM_000267.3(NF1):c.2991-1G>A	NF1	Jun 19, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31230259	TAATTTTTTTATTGTTTCTATGTCTATATAGGTATGTTCGTGTGCTTGGGAATATGGTCCA
72656360	457602	NM_000089.3(COL1A2):c.389G>A (p.Gly130Asp)	COL1A2	Apr 04, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94404849	TGGGTCTCCCATTTTCTTAGGGTCCTGCAGGTGCTCGTGGTCCAGCTGGCCCTCCTGGCAA
775014444	264891	NM_005993.4(TBCD):c.1423G>A (p.Ala475Thr)	TBCD	Oct 11, 2016	MedGen:CN517202	not provided	germline	17	82870328	GACGCCGCCTGCTACGTGTGCTGGGCCTTCGCGCGTGCCTATGAGCCTCAGGAGCTGAAGC
199422247	47556	NM_001363.4(DKC1):c.911G>A (p.Ser304Asn)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154769306	CATCTCATAAACGGCTGGTTATGAAAGACAGTGCAGTAAGTTCCGGGTTAGGAGTTTATAT
786204929	187353	NM_000314.6(PTEN):c.385G>A (p.Gly129Arg)	PTEN	Nov 23, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87933144	GTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATT
-1	442373	NM_033380.2(COL4A5):c.2414G>A (p.Gly805Glu)	COL4A5	Aug 30, 2017	MedGen:CN517202	not provided	germline	X	108614929	TATTTCTTAAAGGTGATGTTGGACCAAATGGACAACCTGGACCAATGGGACCTCCTGGGCT
267606920	28942	NM_002524.4(NRAS):c.179G>A (p.Gly60Glu)	NRAS	Aug 01, 2017	MedGen:C0041409,OMIM:163950;MedGen:C2750732,OMIM:613224;MedGen:CN517202	Noonan syndrome 1;Noonan syndrome 6;not provided	germline	1	114713911	CCTGTTTGTTGGACATACTGGATACAGCTGGACAAGAAGAGTACAGTGCCATGAGAGACCA
387907119	40095	NM_174917.4(ACSF3):c.1412G>A (p.Arg471Gln)	ACSF3	Aug 14, 2011	MedGen:C3280314,OMIM:614265,Orphanet:ORPHA289504	Combined malonic and methylmalonic aciduria	germline	16	89145312	TTAAGGATGGCCAGTACTGGATCCGAGGCCGGACCTCAGTGGACATCATCAAGACTGGAGG
754258809	431494	NM_207189.3(BRDT):c.2783G>A (p.Gly928Asp)	BRDT	Aug 28, 2017	MedGen:CN424852,OMIM:617644	SPERMATOGENIC FAILURE 21	germline	1	92014213	AAAATTTTCTGCTTTTTCTACAGATGGTGGGTACCATTGATATGACCCTTCAAAGTGACAT
121965007	15274	NM_000398.6(CYB5R3):c.173G>A (p.Arg58Gln)	CYB5R3	May 01, 2008	MedGen:C2749559	Methemoglobinemia, type I	germline	22	42631431	CCTCTCTCCAGATCATCAGCCATGACACCCGGCGCTTCCGCTTTGCCCTGCCGTCACCCCA
1064794076	411386	NM_000377.2(WAS):c.273+1G>A	WAS	Aug 14, 2015	MedGen:CN517202	not provided	germline	X	48684424	TCCTACTTCATCCGCCTTTACGGCCTTCAGGTGACCCCCCCACCCCCGACTGGACTTGCAA
80338722	21041	NM_014251.2(SLC25A13):c.1177+1G>A	SLC25A13	Jun 14, 2016	MedGen:C1997910,SNOMED CT:429735007;MedGen:C1863844,OMIM:603471,Orphanet:ORPHA247585;MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598	Citrin deficiency;Citrullinemia type II;Neonatal intrahepatic cholestasis caused by citrin deficiency	germline	7	96184276	GCTATGAAGGCTTCTTTGGACTGTATAGAGGTTAGTGCCACATGCTCAATACCTGTTAGGT
104894965	24787	NM_003140.2(SRY):c.209G>A (p.Trp70Ter)	SRY	Nov 01, 1992	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787395	TGAAGCGACCCATGAACGCATTCATCGTGTGGTCTCGCGATCAGAGGCGCAAGATGGCTCT
587783979	168450	NM_133433.3(NIPBL):c.5709+1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37024720	CGCAGAGTCAATGATGAAGAGGGCATTAAGGTAGTGTTGACTGTTTTAAATTTATTTTTCA
139517732	27695	NM_001256850.1(TTN):c.160G>A (p.Val54Met)	TTN	Feb 22, 2002	MedGen:C1858763,OMIM:604145	Dilated cardiomyopathy 1G	germline	2	178802273	CAGGTGATTTCCACTTCCACTCTGCCCGGCGTGCAGATCTCCTTTAGCGATGGCCGCGCTA
727503503	176214	NM_000363.4(TNNI3):c.509G>A (p.Arg170Gln)	TNNI3	May 04, 2017	Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Cardiomyopathy;Hypertrophic cardiomyopathy;not provided	germline	19	55154070	GGGCCCGGGCTAAGGAGTCCCTGGACCTGCGGGCCCACCTCAAGCAGGTGAAGAAGGAGGA
386833990	71193	NM_012434.4(SLC17A5):c.291G>A (p.Thr97=)	SLC17A5	May 13, 2015	MedGen:C1096903,OMIM:604369,Orphanet:ORPHA309334,SNOMED CT:87074006;MedGen:CN517202	Salla disease;not provided	germline	6	73644407	TGCTCCCATAAAAGTTCATCATAATCAAACGGTAGGTGCTATTTTTTAAGGAAACAATTTT
137854482	31502	NM_000138.4(FBN1):c.3386G>A (p.Cys1129Tyr)	FBN1	Aug 19, 1999	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48487389	GAGATCCTCTCCTATGCCGAGGTGGTGTTTGCCATAACACAGAGGGAAGTTACCGCTGTGA
121913589	29215	NM_000530.7(MPZ):c.293G>A (p.Arg98His)	MPZ	Jun 27, 2017	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009;Human Phenotype Ontology:HP:0000762,MedGen:C1857640;Human Phenotype Ontology:HP:0008944,MedGen:C1836451;Human Phenotype Ontology:HP:0002460,MedGen:C1864696;Human Phenotype Ontology:HP:0001761,MedGen:C0728829;Human Phenotype Ontology:HP:0000763,MedGen:C0151313;MedGen:CN517202	Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I;Decreased nerve conduction velocity;Distal lower limb amyotrophy;Distal muscle weakness;Pes cavus;Sensory neuropathy;not provided	germline;unknown	1	161306863	ACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAA
886041299	264525	NM_003070.4(SMARCA2):c.3439G>A (p.Asp1147Asn)	SMARCA2	Sep 15, 2016	MedGen:CN517202	not provided	germline	9	2110400	GCAGCTGATACAGTGGTCATCTTTGACAGCGACTGGAATCCTCATCAGGTCTGCATGTCCC
137852584	24848	NM_000044.4(AR):c.1943G>A (p.Ser648Asn)	AR	May 25, 1995	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	germline	X	67711459	TGAAACTACAGGAGGAAGGAGAGGCTTCCAGCACCACCAGCCCCACTGAGGAGACAACCCA
121434462	24625	m.12315G>A	MT-TL2	Nov 01, 1996	MedGen:C0162666,SNOMED CT:447292006	Mitochondrial encephalomyopathy	germline	MT	12315	TATCCATTGGTCTTAGGCCCCAAAAATTTTGGTGCAACTCCAAATAAAAGTAATAACCATG
727504075	177924	NM_000283.3(PDE6B):c.2193+1G>A	PDE6B	Oct 08, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151107,OMIM:613801	Retinitis pigmentosa;Retinitis pigmentosa 40	germline;unknown	4	664945	ATCACCAAGCCCTGGGAAGTCCAGAGCAAGGTTAGAACAGAGGGCCCTCCAGACCCAGAGT
121918369	16227	NM_001077620.2(PRCD):c.5G>A (p.Cys2Tyr)	PRCD	Nov 01, 2006	MedGen:C1864621,OMIM:610599	Retinitis pigmentosa 36	germline	17	76540146	CTGGGAGGGGATGGGGCAGCTGCGCCATGTGCACCACCCTTTTCCTGCTCAGCACCCTGGC
748157664	359014	NM_006412.3(AGPAT2):c.514G>A (p.Glu172Lys)	AGPAT2	May 19, 2017	MedGen:C1720862,OMIM:608594;MedGen:CN517202	Congenital generalized lipodystrophy type 1;not provided	germline	9	136676659	TCCCTGCAGCTCAAAGTGTGGATCTATCCCGAGGGTACTCGCAACGACAATGGGGACCTGC
886043187	269949	NM_001849.3(COL6A2):c.1053+1G>A	COL6A2	Jan 22, 2016	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	21	46117454	CCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCT
193921045	442189	NM_000435.2(NOTCH3):c.146G>A (p.Cys49Tyr)	NOTCH3	Dec 23, 2015	MedGen:CN517202	not provided	germline	19	15197551	CAGCCCCCCCTTGCCTGGACGGAAGCCCGTGTGCAAATGGAGGTCGTTGCACCCAGCTGCC
118203941	15919	NM_000046.3(ARSB):c.1214G>A (p.Cys405Tyr)	ARSB	Feb 12, 2015	MedGen:C0026709,OMIM:253200,Orphanet:ORPHA583;MedGen:CN068452	Mucopolysaccharidosis type VI;Mucopolysaccharidosis, type vi, severe	germline	5	78781974	ATCTAATTCTTTCAAACTATTTCTTCCCAGGTCCCAGGAACAGCATGGCTCCAGCAAAGGA
201213030	243962	NM_018076.4(ARMC4):c.2219G>A (p.Trp740Ter)	ARMC4	Apr 03, 2013	MedGen:C3809548,OMIM:615451	Primary ciliary dyskinesia 23	germline	10	27936759	AGCGGTTAGCTGCTGTCACAGGGGCTATATGGAAATGTTCCATCAGCAAAGAGAATGTTAC
-1	434391	NM_001199198.2(TBC1D23):c.1687+1G>A	TBC1D23	Sep 29, 2017	MedGen:CN502750,OMIM:617695	PONTOCEREBELLAR HYPOPLASIA, TYPE 11	germline	3	100316188	GCATTGGGGATGAAGAAGAATACGACACAGGTGTAGTAATACACTTAGCTACAGACAGCTT
184256941	440137	NM_001080463.1(DYNC2H1):c.4073G>A (p.Arg1358His)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	11	103156716	AGTGGGTGTATTTGGAACCCATTTTCGGCCGTGGAGCATTGCCAAAAGAACAGACACGCTT
28928906	29388	NM_002435.2(MPI):c.884G>A (p.Arg295His)	MPI	Nov 01, 2002	MedGen:C1865145,OMIM:602579,Orphanet:ORPHA79319	Congenital disorder of glycosylation type 1B	germline	15	74897050	AGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGT
786201689	183159	NM_000051.3(ATM):c.1737G>A (p.Trp579Ter)	ATM	Jun 29, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	108251966	CTTTTCTTTAAAGGAATCAATAATGAAATGGCTCTTATTCTATCAGTTAGAGGGTGACTTA
199476125	24775	m.3733G>A	MT-ND1	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	3733	CTGCGAGCAGTAGCCCAAACAATCTCATATGAAGTCACCCTAGCCATCATTCTACTATCAA
-1	432708	NM_000277.2(PAH):c.978G>A (p.Trp326Ter)	PAH	Oct 21, 2016	MedGen:CN517202	not provided	germline	12	102844423	TCAGATTGACTTTCCATTCCAGATTTACTGGTTTACTGTGGAGTTTGGGCTCTGCAAACAA
62642055	31959	NM_002272.3(KRT4):c.1303G>A (p.Glu435Lys)	KRT4	Jun 01, 2003	MedGen:C1721005,OMIM:193900,Orphanet:ORPHA171723	White sponge nevus of cannon	germline	12	52807687	CTCATGAGTGTGAAGCTGGCCTTGGACATCGAGATCGCCACCTACCGCAAACTGCTGGAGG
207459995	24715	m.14985G>A	MT-CYB	Nov 01, 1998	MedGen:CN029768	Familial colorectal cancer	unknown	MT	14985	CTCGAGACGTAAATTATGGCTGAATCATCCGCTACCTTCACGCCAATGGCGCCTCAATATT
551747280	424291	NM_000527.4(LDLR):c.82G>A (p.Glu28Lys)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100237	TTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGA
-1	444519	NM_002140.4(HNRNPK):c.1008+1G>A	HNRNPK	Oct 29, 2015	MedGen:CN517202	not provided	germline	9	83971671	GGGAGACCTGGAGACCGTTACGACGGCATGGTAAGAACTTTGGTTTATTACCAGTGTGTTG
770689762	187232	NM_177405.2(ADA2):c.424G>A (p.Gly142Ser)	ADA2	Apr 07, 2015	MedGen:C0282492,OMIM:182410,Orphanet:ORPHA820,SNOMED CT:238776001	Idiopathic livedo reticularis with systemic involvement	germline	22	17182696	GATGCTCTGATGCTGAACACTACCAGAATCGGCCATGGATTTGCTTTGAGCAAACACCCCG
886041879	264791	NM_004380.2(CREBBP):c.3609+1G>A	CREBBP	Jul 12, 2016	MedGen:CN517202	not provided	germline	16	3757808	CAGTCCCTTGGATATTGCTGTGGACGCAAGGTACAGTTTTAAGTTTTTCCGGAAAGTGAAT
281874733	47387	NM_000495.4(COL4A5):c.4271G>A (p.Gly1424Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108686103	CTGGCTTTGATGGTGCAGGAGGGCGCAAAGGAGACCCAGGTCTGCCAGGACAGCCAGGTAA
-1	438552	NM_018890.3(RAC1):c.53G>A (p.Cys18Tyr)	RAC1	Oct 31, 2017	MedGen:CN580791,OMIM:617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48	germline	7	6387229	TCTTTCTCTTTAGAGCTGTAGGTAAAACTTGCCTACTGATCAGTTACACAACCAATGCATT
63751632	95404	NM_000249.3(MLH1):c.1896G>A (p.Glu632=)	MLH1	Jul 12, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	3	37047683	TGCAGACTATTTCTCTTTGGAAATTGATGAGGTGTGACAGCCATTCTTATACTTCTGTTGT
62623459	28341	NM_000506.3(F2):c.598G>A (p.Glu200Lys)	F2	Jun 01, 1983	na	PROTHROMBIN TYPE 3	germline	11	46725897	CAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCAT
111033383	57351	NM_194248.2(OTOF):c.2153G>A (p.Trp718Ter)	OTOF	Oct 17, 2012	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	2	26479325	GAAAGCCCTGCATCTACATCAAGAGCTGGTGGCCGGACCAGCGCCGCCGCCTCTACAATGC
796051877	185936	NM_000152.4(GAA):c.1437G>A (p.Lys479=)	GAA	Dec 21, 2014	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80110055	CAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTA
63750570	29291	NM_016835.4(MAPT):c.1960G>A (p.Val654Met)	MAPT	Mar 01, 2001	Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:CN517202	Frontotemporal dementia;not provided	germline	17	46018629	TGTGTGTGTTGTGTTCTAGGAGGTGGCCAGGTGGAAGTAAAATCTGAGAAGCTTGACTTCA
587781259	165811	NM_017617.4(NOTCH1):c.4487G>A (p.Cys1496Tyr)	NOTCH1	Sep 04, 2014	MedGen:C4014970,OMIM:616028	Adams-Oliver syndrome 5	de novo;germline	9	136505409	CCTGGAAGAACTGCACGCAGTCTCTGCAGTGCTGGAAGTACTTCAGTGACGGCCACTGTGA
1057517710	360547	NM_000061.2(BTK):c.1103G>A (p.Gly368Glu)	BTK	Jul 17, 2015	MedGen:CN517202	not provided	germline	X	101357583	CCAACAGCATGACCTCTCTCTCTGTTTCAGGACTCATATCCAGGCTCAAATATCCAGTGTC
1131691060	420745	NM_003000.2(SDHB):c.424-1G>A	SDHB	Dec 21, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	17027866	TTCTTCTTCTTCTTCTTCCTCTTAACCACAGGATTTGAGCAACTTCTATGCACAGTACAAA
730880460	48906	NM_005343.3(HRAS):c.179G>A (p.Gly60Asp)	HRAS	Mar 10, 2014	MedGen:CN517202	not provided	germline	11	533877	CGTGCCTGTTGGACATCCTGGATACCGCCGGCCAGGAGGAGTACAGCGCCATGCGGGACCA
587782070	151580	NM_007194.3(CHEK2):c.279G>A (p.Trp93Ter)	CHEK2	Aug 31, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	22	28734443	AGAACCTGAGGAGCCTACCCCTGCCCCCTGGGCTCGATTATGGGCCCTTCAGGATGGATTT
121964848	27510	NM_001159287.1(TPI1):c.236G>A (p.Cys79Tyr)	TPI1	Jan 01, 1997	MedGen:C1860808,OMIM:615512,Orphanet:ORPHA868	Triosephosphate isomerase deficiency	germline	12	6868873	GTGGTACCATCTTGTCCTCAGAGGTGGTTTGTGCTCCCCCTACTGCCTATATCGACTTCGC
1085307154	414080	NM_001204.6(BMPR2):c.48G>A (p.W16*)	BMPR2	Jun 27, 2017	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377522	GCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGCTGGTCAGCACTGCGGCTGGT
749035807	426808	NM_001171.5(ABCC6):c.4189G>A (p.Asp1397Asn)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154647	CTGCCCGGCCAGCTGCAGTACAAGTGTGCTGACCGAGGCGAGGACCTGAGGTATGGTCGTC
104894633	17988	NM_030665.3(RAI1):c.5423G>A (p.Ser1808Asn)	RAI1	Nov 01, 2005	MedGen:C0795864,OMIM:182290,Orphanet:ORPHA819,SNOMED CT:401315004	Smith-Magenis syndrome	germline	17	17798371	CAGCCGACAAGGGTCGCAAACATGAGTGCAGCAAGGAGGCTCCGGCAGAGCCCGGCGGGGA
796052064	200593	NM_000030.2(AGXT):c.996G>A (p.Trp332Ter)	AGXT	Oct 10, 2016	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240878075	CACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCAC
1057519503	362227	NM_000265.5(NCF1):c.*154+25G>A	NCF1	Apr 27, 2016	MedGen:C1861862,OMIM:115197	Familial hypertrophic cardiomyopathy 4	unknown	7	74789339	GAGTGGACCGAGGCTCTGCAGGAATGCAGGGAGGGCCGGGCTCCGCCCCAGGGTTATTTCT
794728209	197722	NM_000138.4(FBN1):c.3712+1G>A	FBN1	Aug 08, 2014	MedGen:CN517202	not provided	germline	15	48485373	CACTAATGCCTGACCAGAGATCATGCACCGGTGAGTAGGTTCTAGCCTCATGTTGAATCTC
201188361	40345	NM_014714.3(IFT140):c.634G>A (p.Gly212Arg)	IFT140	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:C1849437,OMIM:266920,Orphanet:ORPHA140969;MedGen:CN517202	Jeune thoracic dystrophy;Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not provided	germline;maternal	16	1592176	GGGCTGTTGTTCTTTGTCAGTCTGATGGACGGTGAGGAACTTTGGTTGTGATTCTCAGGGG
63751165	29293	NM_016835.4(MAPT):c.1865G>A (p.Ser622Asn)	MAPT	Feb 25, 1999	Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:CN517202	Frontotemporal dementia;not provided	germline	17	46010401	ATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCG
774663443	198452	NM_004572.3(PKP2):c.369G>A (p.Trp123Ter)	PKP2	Feb 01, 2017	MedGen:CN517202	not provided	germline	12	32878511	TGGCACAACTGCCACTTATGAAGGTCGCTGGGGAAGAGGAACAGCACAGTACAGCTCCCAG
137853867	40505	NM_000942.4(PPIB):c.343+1G>A	PPIB	Oct 31, 2016	MedGen:CN517202	not provided	germline;unknown	15	64160103	GAGACTTCACCAGGGGAGATGGCACAGGAGGTAACCACAGGTCCTCTGGGCCAAGGAGTAT
267607879	95447	NM_000249.3(MLH1):c.1989+1G>A	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37048610	CCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCG
121908577	21209	NM_004328.4(BCS1L):c.548G>A (p.Arg183His)	BCS1L	Feb 22, 2007	MedGen:C0266006,OMIM:262000,Orphanet:ORPHA123,SNOMED CT:67817003	Pili torti-deafness syndrome	germline	2	218661846	GCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCT
28940268	17893	NM_173076.2(ABCA12):c.4142G>A (p.Gly1381Glu)	ABCA12	Sep 15, 2003	MedGen:C1832550,OMIM:601277	Autosomal recessive congenital ichthyosis 4A	germline	2	214986563	GGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCATGTATGTTAA
-1	446394	NM_000268.3(NF2):c.122G>A (p.Trp41Ter)	NF2	May 05, 2017	MedGen:CN517202	not provided	germline	22	29636758	TCCCCATTGGTTTGTTATTGCAGATGAAGTGGAAAGGGAAGGACCTCTTTGATTTGGTGTG
267607015	22143	NM_002942.4(ROBO2):c.3706G>A (p.Ala1236Thr)	ROBO2	Apr 01, 2007	MedGen:C1970483,OMIM:610878	Vesicoureteral reflux 2	germline	3	77622378	GAAGCTTTAGAAATCCCCAGGCCCCTGAGAGCACTGGACCAGACTCCTGGATCCAGCATGG
397517148	49142	NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg)	SOS1	Nov 13, 2012	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006	Noonan syndrome	germline	2	39023128	GAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACATTGGACAGTGTTGTAATGAAT
137853036	21508	NM_001430.4(EPAS1):c.1609G>A (p.Gly537Arg)	EPAS1	Apr 03, 2009	MedGen:C2673187,OMIM:611783	Erythrocytosis, familial, 4	germline	2	46380281	GAGACACTGGCACCCTATATCCCCATGGACGGGGAAGACTTCCAGCTAAGCCCCATCTGCC
119481075	19913	NM_000197.1(HSD17B3):c.239G>A (p.Arg80Gln)	HSD17B3	Jul 13, 2017	MedGen:C0033804;MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006;MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006;MedGen:CN517202	Pseudohermaphroditism;Testosterone 17-beta-dehydrogenase deficiency;Testosterone 17-beta-dehydrogenase deficiency;not provided	germline;unknown	9	96254906	AACGTGGACTCAATGTTGTCCTTATTAGCCGGACGCTGGAAAAACTAGAGGCCATTGCCAC
267606960	19039	NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)	POMGNT1	Oct 17, 2016	MedGen:C3150412,OMIM:613151;MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED CT:277950001	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Muscle eye brain disease	germline;unknown	1	46192168	GGATGCCTGAACAACGCCGGGGCCGAGAGTGCATCATCCCTGACGTTTCCCGATCCTACCA
137852777	17104	NM_018100.3(EFHC1):c.628G>A (p.Asp210Asn)	EFHC1	Jul 11, 2017	MedGen:C1850778,OMIM:254770;na	Juvenile myoclonic epilepsy;Myoclonic epilepsy, juvenile 1	germline	6	52452742	GAGTTAAATCCACCAGAGAAGATGGCTCTTGATCCTTACACTGAACTCCGAAAACAGCCTC
879254644	245737	NM_000527.4(LDLR):c.692G>A (p.Cys231Tyr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105598	ACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGG
387906940	39535	NM_014762.3(DHCR24):c.1438G>A (p.Glu480Lys)	DHCR24	Jul 01, 2011	MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107	Desmosterolosis	germline	1	54852346	CTGTATGCCGACTGCTACATGAACCGGGAGGAGTTCTGGGAGATGTTTGATGGCTCCTTGT
587784105	168168	NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177235863	AGAAGAAACGCCTTAGGAAGCCAAGCAAGTGGCTTTTGGAATATACAGAAGAATATGATCA
886040950	262857	NM_000059.3(BRCA2):c.9118-1G>A	BRCA2	Apr 11, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32380006	ATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTATTTCAGATTTAC
886039267	259371	NM_001242896.1(DEPDC5):c.3696+5G>A	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31874410	AGGCGATGGCCATTGACATCATGCAGGTGAGACAGCAAGAGGGGCCCATAGAGCTGTTTGC
121918656	27845	NM_004959.4(NR5A1):c.3G>A (p.Met1Ile)	NR5A1	Mar 19, 2009	MedGen:C2751824,OMIM:612965,Orphanet:ORPHA98085;MedGen:C2751825,OMIM:612964	46,XY sex reversal, type 3;Premature ovarian failure 7	germline	9	124503393	TGTCCCTCCGCAGGCGGACGCCGCGGGCATGGACTATTCGTACGACGAGGACCTGGACGAG
794728811	196751	NM_001035.2(RYR2):c.14876G>A (p.Arg4959Gln)	RYR2	Mar 02, 2017	MedGen:C4053736,OMIM:604772;MedGen:CN517202	Catecholaminergic polymorphic ventricular tachycardia type 1;not provided	germline	1	237832619	GGGAATTTTTCCCAGCAGGGGATTGCTTCCGGAAACAGTATGAAGACCAGCTAAATTAAAC
104894689	19269	NM_024301.4(FKRP):c.764G>A (p.Trp255Ter)	FKRP	Dec 01, 2003	MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	germline	19	46756214	AGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCG
727503428	174163	NM_000441.1(SLC26A4):c.1554G>A (p.Trp518Ter)	SLC26A4	Dec 23, 2014	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Pendred's syndrome	germline	7	107698051	CCTTGATATTTTTTCTTCTAGTCCTTCTTGGAATGGCCTTGGAAGCATCCCTAGCACAGAT
764131178	328532	NM_000053.3(ATP7B):c.3182G>A (p.Gly1061Glu)	ATP7B	Jan 12, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN169374	Wilson disease;not specified	germline	13	51944170	TGCCCCTCAGGAAGGTTCTGGCTGTGGTGGGGACTGCGGAGGCCAGCAGTGAACACCCCTT
587779718	107236	NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991004	ATAATTTTGCTGGTTTTATACATTTCCTAGGGCTTCGATGGACGAAATGGAGAAAAGGGTG
587784458	169443	NM_001083962.1(TCF4):c.1146+1G>A	TCF4	Feb 08, 2013	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896	Pitt-Hopkins syndrome	germline	18	55257314	CCTAATTATGAAGGACCCTTACACTCTTTGGTATGTCTCATTTGCTAATCTCTGTCCCACC
113313967	18220	NM_138477.3(CDAN1):c.1860+5G>A	CDAN1	Aug 01, 2005	MedGen:C0271933,OMIM:224120,Orphanet:ORPHA98869,SNOMED CT:59548005	Congenital dyserythropoietic anemia, type I	germline	15	42731206	ACGGGGAGTCAGACGTAGACTGGCAGGTCCGAAAACAGAACAAGGGAAATAATGGGGTCTG
121912864	32391	NM_001844.4(COL2A1):c.3220G>A (p.Gly1074Ser)	COL2A1	Nov 05, 1989	MedGen:C0542428,Orphanet:ORPHA93297	Hypochondrogenesis	germline	12	47977373	GTGGGAGCTCCTGGAGCCCCTGGGCCCCCTGGCTCCCCTGGCCCCGCTGGTCCAACTGGCA
193066451	16269	NM_152419.2(HGSNAT):c.493+1G>A	HGSNAT	Oct 01, 2006	MedGen:C0086649,OMIM:252930,Orphanet:ORPHA79271,SNOMED CT:75238000	Mucopolysaccharidosis, MPS-III-C	germline	8	43159045	TGAACGAGGATCCAGTTGATAGTAACCTTCGTACGTATATGTTCTCTGCTGATTTTCACAT
121912940	32194	NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser)	COL6A2	Sep 01, 1996	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	21	46115881	TACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCC
587783850	170007	NM_000252.2(MTM1):c.679G>A (p.Val227Met)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150645683	GATAGCTTAAACTTTCTGACTTAACCATAGGTGCTGTCATGGATTCATCCAGAAAATAAGA
104886257	36026	NM_000495.4(COL4A5):c.3808G>A (p.Gly1270Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108677517	GTGGATTATTAAGGTCTACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTA
118204079	16592	NM_000237.2(LPL):c.1334G>A (p.Cys445Tyr)	LPL	Oct 03, 1996	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19962126	CATCCATTTTCTTCCACAGGGTGATCTTCTGTTCTAGGGAGAAAGTGTCTCATTTGCAGAA
104886431	35628	NM_000495.4(COL4A5):c.547-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108575909	TTCATCATTTTCTTTACTCACTTTATAACAGGGCCTACCTGGTCCCACTGGTATACCAGGG
886044766	265210	NM_000169.2(GLA):c.830G>A (p.Trp277Ter)	GLA	Dec 13, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398539	AGTTAGTGATTGGCAACTTTGGCCTCAGCTGGAATCAGCAAGTAACTCAGATGGCCCTCTG
397514606	48415	NM_181690.2(AKT3):c.49G>A (p.Glu17Lys)	AKT3	Aug 19, 2014	MedGen:C4014738,OMIM:615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	somatic	1	243695714	CATTAACATGCGTGCTTTCCTCATGTAGGAGAATATATAAAAAACTGGAGGCCAAGATACT
137852565	24846	NM_000044.4(AR):c.2391G>A (p.Trp797Ter)	AR	May 01, 1990	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67721905	AATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGC
886041759	264877	NM_000781.2(CYP11A1):c.425+1G>A	CYP11A1	May 10, 2016	MedGen:CN517202	not provided	germline	15	74347899	TTACCAGAGACCCATAGGAGTCCTGTTGAAGTGAGTCCTGGGCCATCTCCCAGGGACTGGA
1057524873	444185	NM_000089.3(COL1A2):c.2342G>A (p.Gly781Asp)	COL1A2	Oct 04, 2017	MedGen:CN517202	not provided	germline	7	94421055	CCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTC
-1	438776	NM_001077488.3(GNAS):c.352G>A (p.Val118Met)	GNAS	Mar 31, 2017	MedGen:CN517202	not provided	de novo	20	58903708	GTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTTCA
587779471	107062	NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004090	CCTGGCAGCCCTGGAGTGTCTGGACCAAAAGGTGATGCTGGCCAACCAGGAGAGAAGGGAT
1131690995	420495	NM_000264.4(PTCH1):c.394+1G>A	PTCH1	Apr 12, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	9	95506406	AGACCAACGTGGAGGAGCTGTGGGTGGAAGGTAAGAGCGCCCGCCGCGGCGCCCGCGCCCC
397508791	68718	NM_000492.3(CFTR):c.743+1G>A	CFTR	Jul 06, 2016	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Cystic fibrosis;Hereditary pancreatitis	germline	7	117535412	TGGGCTAGGGAGAATGATGATGAAGTACAGGTAGCAACCTATTTTCATAACTTGAAAGTTT
148748724	410721	NM_020533.2(MCOLN1):c.405+1G>A	MCOLN1	Sep 20, 2015	MedGen:CN517202	not provided	germline	19	7526607	TACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCA
886041906	264086	NM_005214.4(CTLA4):c.60G>A (p.Trp20Ter)	CTLA4	Aug 02, 2016	MedGen:CN517202	not provided	germline	2	203868002	GGCTCAGCTGAACCTGGCTACCAGGACCTGGCCCTGCACTCTCCTGTTTTTTCTTCTCTTC
1057519055	362057	NM_005215.3(DCC):c.2414G>A (p.Gly805Glu)	DCC	Jul 03, 2017	MedGen:C0175754,OMIM:217990,Orphanet:ORPHA200;MedGen:C1834870,OMIM:157600	Corpus callosum agenesis;Mirror movements 1	germline	18	53386097	CCCTAAAAGCTTTTAACAATGCCGGAGAAGGAGTTCCTCTTTATGAAAGTGCCACCACCAG
121908126	19485	NM_001031681.2(CTNS):c.506G>A (p.Gly169Asp)	CTNS	Nov 01, 1998	MedGen:C0010690,OMIM:219800	Nephropathic cystinosis	germline	17	3656531	GCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGG
267607510	77358	NM_002055.4(GFAP):c.209G>A (p.Arg70Gln)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915278	CTGGCTTCAAGGAGACCCGGGCCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCTT
587776932	48302	NM_006218.3(PIK3CA):c.2740G>A (p.Gly914Arg)	PIK3CA	Jun 17, 2016	MedGen:C1865285,OMIM:602501;MedGen:CN517202	Megalencephaly cutis marmorata telangiectatica congenita;not provided	de novo;germline;somatic	3	179230077	TACTGTGTAGCTACCTTCATTTTGGGAATTGGAGATCGTCACAATAGTAACATCATGGTGA
72555367	15979	NM_000404.3(GLB1):c.1313G>A (p.Gly438Glu)	GLB1	Jul 01, 2000	MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	Mucopolysaccharidosis, MPS-IV-B	germline	3	33018482	ACCCAGCACCTCTCTCTTCACCCCTCAATGGAGTCCACGATCGAGCATATGTTGCTGTGGA
77010898	22168	NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter)	CFTR	Jul 11, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN240590;MedGen:CN517202;MedGen:CN169374	Cystic fibrosis;Hereditary pancreatitis;ataluren response - Efficacy;not provided;not specified	germline;unknown	7	117642566	GTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTG
61755789	28208	NM_000322.4(PRPH2):c.500G>A (p.Gly167Asp)	PRPH2	Mar 01, 1993	MedGen:C1868569,OMIM:169150,Orphanet:ORPHA63454;MedGen:CN517202	Patterned dystrophy of retinal pigment epithelium;not provided	germline	6	42721835	ACATGCTGCAGATCGAGTTCAAATGCTGCGGCAACAACGGTTTTCGGGACTGGTTTGAGAT
72554322	103019	NM_000531.5(OTC):c.174G>A (p.Trp58Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367387	TACCGGAGAAGAAATTAAATATATGCTATGGCTATCAGCAGATCTGAAATTTAGGATAAAA
587776576	18532	NM_024426.4(WT1):c.1432+5G>A	WT1	Jun 26, 2017	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002;MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009;MedGen:C0950122,OMIM:136680,Orphanet:ORPHA347,SNOMED CT:445431000;MedGen:CN043611	Diffuse mesangial sclerosis;Drash syndrome;Frasier syndrome;Hereditary nephrotic syndrome	germline	11	32391967	CACCAGGACTCATACAGGTAAAACAAGTGCGTAAACTTTTCTTCACATTTATTTTTCATTA
762550967	247477	NM_080916.2(DGUOK):c.130G>A (p.Glu44Lys)	DGUOK	Aug 18, 2016	MedGen:C4310733,OMIM:617070,Orphanet:ORPHA329314	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	germline	2	73927040	GCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGG
765659555	424020	NM_000088.3(COL1A1):c.2641G>A (p.Gly881Ser)	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50189705	CAGGGTGCTACTGGTTTCCCTGGTGCTGCTGGCCGAGTCGGTCCTCCTGGCCCCTCTGTAA
727504746	178267	NM_001692.3(ATP6V1B1):c.785+1G>A	ATP6V1B1	Oct 11, 2013	MedGen:C0403554,OMIM:267300,SNOMED CT:236532003	Renal tubular acidosis with progressive nerve deafness	germline	2	70961694	CCTCTTCCTGAACTTGGCCAATGACCCCACGTGAGCTTTCCCTGATGCCCAAACTGCCCTC
137853104	23668	NM_020547.3(AMHR2):c.1217G>A (p.Arg406Gln)	AMHR2	Aug 15, 2009	MedGen:C3897940	Persistent mullerian duct syndrome, type II	germline	12	53429907	TGGACCTACAGGATTGGGGCATGGCCCTCCGACGAGCTGATATTTACTCTTTGGCTCTGCT
771438170	214898	NM_000282.3(PCCA):c.2002G>A (p.Gly668Arg)	PCCA	Jan 01, 2014	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100515529	ACAAGCAGTGTTCTGCGTTCCCCGATGCCCGGAGTGGTGGTGGCCGTCTCTGTCAAGCCTG
587778933	95276	NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter)	MLH1	Aug 21, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome	germline	3	37040240	ACTCCTTCGTGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATA
387906812	39159	NM_003073.4(SMARCB1):c.1130G>A (p.Arg377His)	SMARCB1	Mar 18, 2012	MedGen:C3553248,OMIM:614608	Mental retardation, autosomal dominant 15	germline	22	23834152	CTCCCCACTCCTCTTCCAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGCCTGGTAACC
104886302	36121	NM_000495.4(COL4A5):c.4913G>A (p.Cys1638Tyr)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108695376	CCTTCATCGAATGTCATGGGAGGGGTACCTGTAACTACTATGCCAACTCCTACAGCTTTTG
879255689	247689	NM_012062.4(DNM1L):c.1048G>A (p.Gly350Arg)	DNM1L	Aug 25, 2016	MedGen:C3280660,OMIM:614388,Orphanet:ORPHA330050	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	unknown	12	32722602	TTTGCCACAGAATATTGTAACACTATTGAAGGAACTGCAAAATATATTGAAACTTCGGAGC
80358242	19760	NM_015166.3(MLC1):c.176G>A (p.Gly59Glu)	MLC1	Sep 22, 2016	MedGen:C1858854,OMIM:604004,Orphanet:ORPHA2478;MedGen:CN517202	Megalencephalic leukoencephalopathy with subcortical cysts 1;not provided	germline;unknown	22	50084727	ACAAGACGTGGGTCTTCTCTGTGCTGATGGGGGTGAGTAGCTCCACACTAAGCCCTTGGAG
794727993	196414	NM_001098398.1(COPA):c.698G>A (p.Arg233His)	COPA	Jun 01, 2015	MedGen:C4225334,OMIM:616414,Orphanet:ORPHA444092	Autoimmune interstitial lung, joint, and kidney disease	germline;inherited	1	160323439	GGGCAGATGATCGTCAAGTGAAGATCTGGCGCATGAATGGTGAGTGAACCGGTTACATTAT
121909264	23372	NM_000388.3(CASR):c.428G>A (p.Gly143Glu)	CASR	May 22, 2017	MedGen:C0342345,OMIM:601198;MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:CN517202	Hypocalcemia, autosomal dominant 1;Hypocalciuric hypercalcemia, familial, type 1;Hypocalciuric hypercalcemia, familial, type 1;not provided	germline;unknown	3	122257323	AGCACATTCCCTCTACGATTGCTGTGGTGGGAGCAACTGGCTCAGGCGTCTCCACGGCAGT
79653797	19330	NM_000157.3(GBA):c.476G>A (p.Arg159Gln)	GBA	Feb 01, 2011	MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1842704,OMIM:608013,Orphanet:ORPHA85212;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher disease;Gaucher disease, perinatal lethal;Gaucher's disease, type 1	germline	1	155238629	TTTCTGTAGGAATCGGATATAACATCATCCGGGTACCCATGGCCAGCTGTGACTTCTCCAT
141498002	260132	NM_000303.2(PMM2):c.368G>A (p.Arg123Gln)	PMM2	Jun 12, 2017	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002;MedGen:CN517202	Carbohydrate-deficient glycoprotein syndrome type I;not provided	germline;unknown	16	8811099	TCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGG
794729167	198556	NM_000116.4(TAZ):c.582G>A (p.Trp194Ter)	TAZ	May 31, 2012	MedGen:CN517202	not provided	germline	X	154419745	CATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCC
796065306	171807	NM_183357.2(ADCY5):c.2176G>A (p.Ala726Thr)	ADCY5	Aug 22, 2017	MedGen:C1847627,OMIM:606703,Orphanet:ORPHA324588;MedGen:CN517202	Dyskinesia, familial, with facial myokymia;not provided	germline	3	123319754	GTGGATGAGTTTCTGGGCCGTGCCATTGACGCCAGGAGCATTGATAGGCTTCGGTCTGAGC
796052887	202968	NM_002693.2(POLG):c.2420G>A (p.Arg807His)	POLG	Jan 18, 2014	MedGen:CN517202	not provided	germline	15	89322748	TGATTTCTTTCTGGAGGAACGCCCATAAACGTATCAGGTGGGCCACCATGGGAGGAGTCCT
527236097	152787	NM_000322.4(PRPH2):c.410G>A (p.Gly137Asp)	PRPH2	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	6	42721925	AGAACACCCTGGGCCAAGGGCTCAAGAACGGCATGAAGTACTACCGGGACACAGACACCCC
121918066	15115	NM_000374.4(UROD):c.995G>A (p.Arg332His)	UROD	Nov 01, 1998	MedGen:C0268323,OMIM:176100,SNOMED CT:59229005	Familial porphyria cutanea tarda	germline	1	45015389	AGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTA
104893842	31069	NM_000406.2(GNRHR):c.416G>A (p.Arg139His)	GNRHR	Jun 21, 2017	Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004;Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004;MedGen:CN239347;MedGen:CN517202	Hypogonadotropic hypogonadism 7 with or without anosmia;Hypogonadotropic hypogonadism 7 with or without anosmia;Isolated GnRH Deficiency;not provided	germline;inherited	4	67753920	CCTTCATGATGGTGGTGATCAGCCTGGACCGCTCCCTGGCTATCACGAGGCCCCTAGCTTT
121908614	21141	NM_004820.4(CYP7B1):c.169G>A (p.Gly57Arg)	CYP7B1	Jan 01, 2009	MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986	Spastic paraplegia 5A	germline	8	64624493	CCATTGATAAAAGGTTGGCTTCCTTATCTTGGAGTGGTCCTGAACTTACGAAAAGACCCCT
1057520486	365646	NM_001165963.1(SCN1A):c.2946+5G>A	SCN1A	Aug 10, 2015	MedGen:CN517202	not provided	germline	2	166037771	TGGTCATGGTGATTGGAAACCTAGTGGTATGTACCCACTTAAGATATGCATTTTGGAAATA
56821304	22541	NM_002281.3(KRT81):c.1204G>A (p.Glu402Lys)	KRT81	Jul 01, 1998	MedGen:C0546966,OMIM:158000,Orphanet:ORPHA573,SNOMED CT:69488000;MedGen:CN517202	Beaded hair;not provided	germline	12	52287145	GTGATGAACTCCAAGCTGGGCCTGGACATCGAGATCGCCACCTACAGGCGCCTGCTGGAGG
587779643	107122	NM_000090.3(COL3A1):c.2022G>A (p.Lys674=)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188998718	TGCCGGTGCACCTGGAGCTCCAGGAGGCAAGGTAGTATTTCAATTTATTCTCTACCTTCTT
113828929	264978	NM_001849.3(COL6A2):c.2422+1G>A	COL6A2	Jul 05, 2016	MedGen:CN517202	not provided	germline	21	46126238	TCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGA
672601347	372611	NM_001845.5(COL4A1):c.2317G>A (p.Gly773Arg)	COL4A1	Jun 14, 2017	MedGen:CN517202	not provided	germline	13	110179298	CCAGGCGTTCCTGGAGAACATGGAGCGATCGGACCCCCTGGGCTTCAGGGGATCAGAGGTA
397515589	76692	NM_194248.2(OTOF):c.1841G>A (p.Gly614Glu)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26480274	CAGGTAAAATGGAAGAATTCTTTCTCTTTGGAGCCTTCCTGGAGGCCTCAATGATCGACCG
267607789	95830	NM_000249.3(MLH1):c.790+1G>A	MLH1	Aug 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	3	37014545	AGAAGTGCATCTTCTTACTCTTCATCAACCGTAAGTTAAAAAGAACCACATGGGAAATCCA
104894632	20315	NM_007215.3(POLG2):c.1352G>A (p.Gly451Glu)	POLG2	Jun 01, 2006	MedGen:C1864668,OMIM:610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	germline	17	64477929	TTTTGGTTACTGAAACTACTTTGGAGAATGGATTAATACATCTGAGAAGCAGAGACACCAC
587784337	169784	NM_003560.3(PLA2G6):c.1699G>A (p.Glu567Lys)	PLA2G6	Feb 08, 2013	Human Phenotype Ontology:HP:0012675,MedGen:C4021076	Iron accumulation in brain	germline	22	38120802	TCGGGGCCCCTGGAGGAGTTCCTGAAGCGGGAGTTTGGGGAGCACACCAAGATGACGGACG
606231251	166402	NM_022082.3(SLC17A9):c.932G>A (p.Arg311Gln)	SLC17A9	Oct 01, 2014	MedGen:C4015128,OMIM:616063	Porokeratosis 8, disseminated superficial actinic type	germline	20	62965153	CCCCTGTAGGTTACAGAGCCATCACGGTGCGGAAGCTCATGCAGGTAGGAGAATCATTCCG
866260675	247773	NM_002439.4(MSH3):c.2319-1G>A	MSH3	Aug 31, 2016	MedGen:C4310719,OMIM:617100	Familial adenomatous polyposis 4	germline	5	80778719	TTTCCTATTTGTGTTCTTTCCCCTCTTCTAGCACAAAAGCTGTGAGCCGCTTTCACTCTCC
121909393	16353	NM_001174089.1(SLC4A11):c.1415G>A (p.Arg472Lys)	SLC4A11	May 01, 2007	MedGen:C1857572,OMIM:217400,Orphanet:ORPHA1490	Corneal dystrophy and perceptive deafness	germline	20	3230515	ACCTCAGCCTGGTCATGAGTCTCTTCAAGAGGTGACTGGCCCTTCCGTGAGCTGCTGGGAC
863225422	214739	NR_023343.1(RNU4ATAC):n.48G>A	RNU4ATAC	Nov 02, 2015	Gene:57788,MedGen:C1846059,OMIM:616651,Orphanet:ORPHA353298	Roifman syndrome	germline	2	121530927	GGTTGCGCTACTGTCCAATGAGCGCATAGTGAGGGCAGTACTGCTAACGCCTGAACAACAC
121918055	28553	NM_002693.2(POLG):c.1532G>A (p.Ser511Asn)	POLG	Apr 01, 2007	MedGen:C1834846,OMIM:157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	germline	15	89326965	AGAAGGTGAAGAAGGAACCAGCCACAGCCAGCAAGTTGCCCATCGAGGGGGCTGGGGCCCC
387906876	39356	NM_004281.3(BAG3):c.1430G>A (p.Arg477His)	BAG3	Mar 11, 2011	MedGen:C3151293,OMIM:613881	Dilated cardiomyopathy 1HH	germline	10	119676984	CAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGGAGAGACGGTGTCAGGAAGGT
763036586	187054	NM_000071.2(CBS):c.1136G>A (p.Arg379Gln)	CBS	Aug 03, 2015	MedGen:C3150344,OMIM:236200;MedGen:CN517202	Homocystinuria due to CBS deficiency;not provided	germline;unknown	21	43060450	GCTGCGTGGTCATTCTGCCCGACTCAGTGCGGAACTACATGTAAGACACGGCTTCCCTCCC
267607970	96202	NM_000251.2(MSH2):c.1662-1G>A	MSH2	Dec 22, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C0265325,OMIM:276300,Orphanet:ORPHA252202,SNOMED CT:61665008	Hereditary cancer-predisposing syndrome;Lynch syndrome;Turcot syndrome	germline	2	47470964	TTTTTAATAAAACTGTTATTTCGATTTGCAGCAAATTGACTTCTTTAAATGAAGAGTATAC
72651645	414000	NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser)	COL1A1	Mar 15, 2016	Human Phenotype Ontology:HP:0000703,MedGen:C0011436,Orphanet:ORPHA49042;MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009;Human Phenotype Ontology:HP:0002757,MedGen:C0016655	Dentinogenesis imperfecta;Osteogenesis imperfecta type III;Recurrent fractures	germline;unknown	17	50191463	TAGGGTGATGCTGGTGCCCCTGGAGCTCCCGGTAGCCAGGGCGCCCCTGGCCTTCAGGGAA
886037683	421128	NM_177438.2(DICER1):c.2040+1G>A	DICER1	Nov 03, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	14	95113091	ATTAACTCACCTCTTCGAGCCTCCATTGTTGTAAGTTTAGAAGAAGAAATGATTGTTATCT
397514703	65605	NM_021954.3(GJA3):c.5G>A (p.Gly2Asp)	GJA3	Dec 01, 2011	MedGen:C1866078,OMIM:601885	Zonular pulverulent cataract 3	germline	13	20143284	CTCTTACAGGTTAGGAATCTGAAGCAATGGGCGACTGGAGCTTTCTGGGAAGACTCTTAGA
-1	430678	NM_000252.2(MTM1):c.342+1G>A	MTM1	May 25, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150614700	AATTCCTATGGTCTAGATATTACTTGTAAAGTAAGAGATTCGATACTTTCTTATGCAAAGA
121965062	15315	NM_000934.3(SERPINF2):c.1231G>A (p.Val411Met)	SERPINF2	Nov 01, 1999	MedGen:C2752081,OMIM:262850	Anti-plasmin deficiency, congenital	germline	17	1754289	ATGTCCCGCATGTCCCTGTCCTCCTTCAGCGTGAACCGCCCCTTCCTCTTCTTCATCTTCG
-1	433001	NM_000297.3(PKD2):c.2523-1G>A	PKD2	Jan 11, 2017	MedGen:CN169374	not specified	germline	4	88074811	TTTGTCCCTCTGTACTGTGTTTTCCTTGCAGCCTGGTGAGACGAGTGGACCGGATGGAGCA
1057516079	354029	NM_172107.3(KCNQ2):c.471G>A (p.Trp157Ter)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63445281	CGCAGGCTGCTGCTGCCGGTACCGTGGCTGGAGGGGGCGGCTCAAGTTTGCCCGGAAACCG
863225164	214219	NM_023073.3(CPLANE1):c.2709G>A (p.Trp903Ter)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37221361	TGATCAGCTAGCAAGAGAAATCCTGAGATGGTCCCAACTACCTGTAAAAGAAAATAAAGAT
727503035	176790	NM_000501.3(ELN):c.1918+1G>A	ELN	Aug 07, 2012	Human Phenotype Ontology:HP:0004381,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED CT:268185002	Supravalvar aortic stenosis	germline	7	74063370	CCAAAGCTGCTGCCAAAGCCGCCCAGTTTGGTGAGCACTGGGTGGAGGTGGGAGCTGCCGC
776095655	264004	NM_006516.2(SLC2A1):c.1199G>A (p.Arg400His)	SLC2A1	Aug 24, 2016	MedGen:CN517202	not provided	germline	1	42927684	TCGTGGCTGAACTCTTCAGCCAGGGTCCACGTCCAGCTGCCATTGCCGTTGCAGGCTTCTC
587779438	106870	NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004257	GATGAGCTAAGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGA
1057520700	380065	NM_000377.2(WAS):c.360+1G>A	WAS	Nov 18, 2016	MedGen:CN517202	not provided	germline	X	48685634	ACCCCCTTCTTCCACACCTTCGCTGGAGATGTAAGTGATCAACCAGCCCTCGGGCCTCACT
200273673	136327	NM_015713.4(RRM2B):c.122G>A (p.Arg41Gln)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102232231	AAGAGCCACTCCTAAGAAAGAGTTCTCGCCGGTTTGTCATCTTTCCAATCCAGTACCCTGA
201899866	481156	NM_001168357.1(PLA2G7):c.663+1G>A	PLA2G7	Jan 24, 2018	MedGen:C1866472,OMIM:614278	Platelet-activating factor acetylhydrolase deficiency	germline	6	46711495	GAGGAGGAGACACATATACGAAATGAGCAGGTACATTGCAGTGAAAGGAGAGGTGGTTGGT
1064793729	411251	NM_014927.4(CNKSR2):c.2145+1G>A	CNKSR2	Jun 16, 2015	MedGen:CN517202	not provided	germline	X	21606880	CCATATGATACATACCCACGACCTCCCTCGGTAAGTTAGCAACAAGAACATTACTTATCAC
67394386	413983	NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser)	COL1A1	-	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	unknown	17	50188131	TGCTCTCCCCAGGGTCCTGCTGGTCCCGCCGGTCCTGTCGGCCCTGTTGGCGCCCGTGGCC
137852647	24247	NM_002047.3(GARS):c.1660G>A (p.Asp554Asn)	GARS	Nov 01, 2014	MedGen:C1832274,OMIM:601472,Orphanet:ORPHA99938;MedGen:C1833308,OMIM:600794,Orphanet:ORPHA139536	Charcot-Marie-Tooth disease type 2D;Distal hereditary motor neuronopathy type 5	germline	7	30626280	ACTGAAGGGAAAACATTTCAGTTAACAAAAGACATGATCAATGTGAAGAGATTCCAGAAAA
767709505	203002	NM_002693.2(POLG):c.1716G>A (p.Trp572Ter)	POLG	Apr 16, 2014	MedGen:CN517202	not provided	germline	15	89325683	CACTGCTGTCTTCCTGCTGGGACGTAGATGGTACCGGAAGCTCTGCCCCCGGCTAGACGAC
137852987	20006	NM_022437.2(ABCG8):c.1083G>A (p.Trp361Ter)	ABCG8	May 09, 2016	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009;MedGen:CN517202	Sitosterolemia;not provided	germline	2	43872094	AAAAGTGCGTGACTTAGATGACTTTCTATGGAAAGCAGAGACGAAGGATCTTGACGAGGAC
121909284	23282	NM_000020.2(ACVRL1):c.1232G>A (p.Arg411Gln)	ACVRL1	Sep 08, 2017	MedGen:C1838163,OMIM:600376;MedGen:C1832529;MedGen:CN517202;MedGen:CN169374	Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not provided;not specified	germline	12	51916219	TTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCACCCTA
121912755	32819	NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)	SLC4A1	Nov 01, 2005	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44253150	CAGCCCAGATCCAGGAGGTCAAAGAGCAGCGGATCAGTGGACTCCTGGTCGCTGTGCTTGT
753614861	229258	NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile)	DNAH5	May 03, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13830026	GAACCCTGAATTTGGGCTTTTCTTAACCATGGTAAGGAGCTGCTAGAAAAGCTACTGAATT
148032587	194820	NM_000303.2(PMM2):c.442G>A (p.Asp148Asn)	PMM2	Sep 05, 2017	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002;MedGen:CN517202	Carbohydrate-deficient glycoprotein syndrome type I;not provided	germline;unknown	16	8811173	CAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGG
137854856	45768	NM_000428.2(LTBP2):c.3529G>A (p.Val1177Met)	LTBP2	Aug 01, 2012	MedGen:C1869114,OMIM:277600;MedGen:C3553785,OMIM:614819	Weill-Marchesani syndrome 1;Weill-Marchesani syndrome 3	germline	14	74508727	ACACCCACTCCCCATCTTTTCCCTGCAGATGTGAATGAGTGCATGGGGGAGGAGCACTGCG
-1	481461	NM_213649.1(SFXN4):c.414+1G>A	SFXN4	Dec 13, 2017	MedGen:C3810001,OMIM:615578,Orphanet:ORPHA391348	Combined oxidative phosphorylation deficiency 18	germline	10	119158008	AAAGGGATCAAGTCCGTGATTTTACCTCAGGTAGCCATTCTTCCTGTTTCACGATTACTAA
137852350	25395	NM_007325.4(GRIA3):c.2497G>A (p.Gly833Arg)	GRIA3	Nov 13, 2007	MedGen:C2678051,OMIM:300699,Orphanet:ORPHA364028	Mental retardation, X-linked, syndromic, wu type	germline	X	123482856	AATGTGGCAGGCGTTTTCTATATACTTGTCGGAGGTCTGGGGCTGGCCATGATGGTGGCTT
104894311	27474	NM_003282.3(TNNI2):c.521G>A (p.Arg174Gln)	TNNI2	Feb 01, 2016	MedGen:C1834523,OMIM:601680,Orphanet:ORPHA1147;MedGen:CN517202	Distal arthrogryposis type 2B;not provided	germline;somatic	11	1841523	ACATCGAGGAGAAGTCTGGCATGGAGGGCCGGAAGAAGATGTTTGAGTCCGAGTCCTAGGC
431825170	16984	NM_030957.3(ADAMTS10):c.1190+1G>A	ADAMTS10	Nov 01, 2004	MedGen:C1869114,OMIM:277600	Weill-Marchesani syndrome 1	germline	19	8596306	GTTCACCATTGCCCACGAGATCGGGCACACGTGAGGCCAGGGCACACAAGAGGGGGAGGAG
118203952	15902	NM_013319.2(UBIAD1):c.556G>A (p.Gly186Arg)	UBIAD1	Feb 01, 2008	Human Phenotype Ontology:HP:0007760,MedGen:C0271287,OMIM:121800,Orphanet:ORPHA98967,SNOMED CT:39662004,SNOMED CT:419395007	Schnyder crystalline corneal dystrophy	germline	1	11285670	GCAGGAATTGGATTCAAGTACGTGGCTCTGGGAGACCTCATCATCCTCATCACTTTTGGCC
1131690950	420695	NM_000455.4(STK11):c.290+1G>A	STK11	Jul 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:ORPHA2869,SNOMED CT:54411001	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	germline	19	1207204	GATCCCCAACGGGGAGGCCAACGTGAAGAAGTAAGTATGGCTTGCTGGGGTCGGGGCCGGG
752135143	233909	NM_000051.3(ATM):c.331+5G>A	ATM	Jun 29, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	11	108229328	ATACTTCATCAAATGTGCAAACAGAAGTAAGTGATGTTATAAATTATAAATAAATGGCTTA
59977263	29638	NM_000422.2(KRT17):c.304G>A (p.Val102Met)	KRT17	Mar 01, 2002	MedGen:C1721007,OMIM:167210;MedGen:CN517202	Pachyonychia congenita 2;not provided	germline	17	41624206	AATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCCCTGGAGGAGGCCAACACTGAGC
1131690907	420508	NM_000321.2(RB1):c.264+1G>A	RB1	May 16, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48307407	GAGAAAGTTTCATCTGTGGATGGAGTATTGGTAAGGATTTTCTTAAAACGTTTTGAAATTT
-1	362615	NM_031407.6(HUWE1):c.329G>A (p.Arg110Gln)	HUWE1	Jan 18, 2017	MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328	Mental retardation, X-linked, syndromic, turner type	de novo	X	53647390	CAGCCTTGCTCATTGAGTACAGCTTTTCCCGGCATCTGTACAGTTCCATAGAGGTAGGGGA
780872661	485797	NM_000268.3(NF2):c.180G>A (p.Trp60Ter)	NF2	Sep 29, 2016	MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002	Neurofibromatosis, type 2	germline	22	29636816	GTGCCGGACTCTGGGGCTCCGAGAAACCTGGTTCTTTGGACTGCAGTACACAATCAAGGAC
-1	442501	NM_001130144.2(LTBP3):c.1846+5G>A	LTBP3	Jan 04, 2018	MedGen:CN696019,OMIM:617809	GELEOPHYSIC DYSPLASIA 3	germline	11	65547915	ACATCCCCAGCACCGCTACTGCGTGGGTGAGCGCAGGGCAGGCGGCGGGCATGCAGGTGGG
730880269	17960	NM_024077.4(SECISBP2):c.1212+29G>A	SECISBP2	Nov 01, 2005	MedGen:C1864761,OMIM:609698,Orphanet:ORPHA171706	Thyroid hormone metabolism, abnormal	germline	9	89338609	AAGTACATTTATATTTTTTATTCACATGGTGTGATATAATAAGTGGGTCTTTCTTAAAAGA
119489103	20458	NM_005456.3(MAPK8IP1):c.176G>A (p.Ser59Asn)	MAPK8IP1	Mar 01, 2000	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006	Diabetes mellitus type 2	germline	11	45898159	TCTCGGAGATCACTGATGAGTGTGGCATCAGCTTACAGTGCAAAGACACCCTGTCCTTACG
121908320	19646	NM_020427.2(SLURP1):c.296G>A (p.Cys99Tyr)	SLURP1	Mar 01, 2004	MedGen:C0025221,OMIM:248300,Orphanet:ORPHA87503,SNOMED CT:239069005	Acroerythrokeratoderma	germline	8	142741159	ACCTGATCTTCTGCTGCTTCCGAGACCTCTGCAACTCGGAACTCTGAACCCAGGGCGGCAG
515726183	136330	NM_015713.4(RRM2B):c.208G>A (p.Asp70Asn)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102226031	AAATTTTTGAAAATCTTTTTATTCCAGGTCGACTTATCAAAGGATCTCCCTCACTGGAACA
797044485	172110	NM_170707.3(LMNA):c.667G>A (p.Glu223Lys)	LMNA	Jan 08, 2015	MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004	Hutchinson-Gilford syndrome	germline	1	156134832	CAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGA
201859109	440665	NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg)	COL4A4	Aug 31, 2016	MedGen:CN517202	not provided	germline	2	227089931	ACAGTGATATACTGTAGTGTTGGGAACCCCGGACCACAAGGAATAAAAGGCAAAGTTGGTC
104886146	35800	NM_000495.4(COL4A5):c.1897G>A (p.Glu633Lys)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598819	CCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGTGGCAGGAAATC
121909085	22348	NM_004560.3(ROR2):c.2160G>A (p.Trp720Ter)	ROR2	Aug 01, 2000	MedGen:C1849334,OMIM:268310,Orphanet:ORPHA1507	Robinow syndrome, autosomal recessive	germline	9	91724334	GCTGCCTTGCCCCGATGACTGTCCCGCCTGGGTGTATGCCCTCATGATCGAGTGCTGGAAC
587779703	107213	NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008970	CAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGCCCCTGGTCCTTGCTGTGGTGGTGTTGG
1057524847	369673	NM_000089.3(COL1A2):c.407G>A (p.Gly136Asp)	COL1A2	Jan 30, 2017	MedGen:CN517202	not provided	germline	7	94404867	AGGGTCCTGCAGGTGCTCGTGGTCCAGCTGGCCCTCCTGGCAAGGCTGGTGAAGATGTAAG
587777575	150464	NM_022168.3(IFIH1):c.1354G>A (p.Ala452Thr)	IFIH1	Jul 03, 2014	MedGen:C3888244,OMIM:615846	Aicardi-goutieres syndrome 7	germline	2	162281498	ATTGATGAATGTCATCACACCAACAAAGAAGCAGTGTATAATAACATCATGAGGCATTATT
-1	431555	NC_000006.12:g.45512244G>A	RUNX2	Aug 31, 2016	MedGen:C0008928,OMIM:119600,Orphanet:ORPHA1452,SNOMED CT:65976001	Cleidocranial dysostosis	somatic	6	45512244	ATACTAAAGATTTTTCTTTTTCTTTTTCCCAGACCCCAGGCAGGCACAGTCTTCCCCGCCG
141242566	214430	NM_004366.5(CLCN2):c.1795G>A (p.Asp599Asn)	CLCN2	Sep 09, 2015	MedGen:C3810242,OMIM:615651,Orphanet:ORPHA363540	Leukoencephalopathy with ataxia	germline	3	184353722	CCCCATGTGGCCCTCAGCTGCACCTTCCGGGACCTGCGTTTGGCACTGCACAGGACCAAGG
28933392	28178	NM_000448.2(RAG1):c.2164G>A (p.Glu722Lys)	RAG1	Oct 04, 1996	MedGen:C1867362	Severe combined immunodeficiency, B cell-negative	germline	11	36575468	GAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTC
756880678	200697	NM_138361.5(LRSAM1):c.1913-1G>A	LRSAM1	Apr 30, 2015	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001	Charcot-Marie-Tooth disease	germline	9	127501009	CTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCA
267606849	19196	NM_000173.6(GP1BA):c.1620G>A (p.Trp540Ter)	GP1BA	Jul 01, 1997	MedGen:C3278148	Bernard-Soulier syndrome, type A1	germline	17	4934224	CCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTG
111033723	36549	NM_000155.3(GALT):c.564+1G>A	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648172	GGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCT
369651701	264042	NM_022356.3(P3H1):c.1569+1G>A	P3H1	Apr 20, 2016	MedGen:CN517202	not provided	germline	1	42752273	TATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTG
199469654	106393	NM_003590.4(CUL3):c.1207-1G>A	CUL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	2	224503823	GTATAATTGTTACATCATCTTAATTTTGCAGCTAACAGAACAAGAAGTAGAAACAATATTG
886037652	94242	NM_001031725.5(DDX59):c.1600G>A (p.Gly534Arg)	DDX59	Sep 05, 2013	MedGen:C1868118,OMIM:174300,Orphanet:ORPHA2919	Orofaciodigital syndrome 5	germline	1	200644514	GAAAATGTTCTTTGCATTTTATTTCAGATTGGAAGAGTAGGAAGATTAGGTCAAAATGGAA
104894640	20156	NM_000199.3(SGSH):c.1105G>A (p.Glu369Lys)	SGSH	Sep 03, 2015	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-A;not provided	germline	17	80210856	GCCACCGTCTTTGGCAGCCAGAGCCACCACGAGGTCACCATGTCCTACCCCATGCGCTCCG
61027685	77253	NM_000526.4(KRT14):c.397G>A (p.Val133Met)	KRT14	Apr 04, 2015	MedGen:CN517202	not provided	germline	17	41586438	AATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCTCTGGAGGAGGCCAACGCCGACC
267606723	68465	NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN236562	Cystic fibrosis;ivacaftor response - Efficacy	germline	7	117642451	TCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTT
764813110	245298	NM_001039550.1(DNAJB2):c.620-1G>A	DNAJB2	Aug 18, 2015	MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485	Spinal muscular atrophy, distal, autosomal recessive, 5	germline	2	219284631	TGGGGCCTCATGGTGGCTGTGACTCTTGCAGGTGTCCCAGATGACCTGGCACTGGGCTTGG
372054380	215758	NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His)	RTN4IP1	Nov 05, 2015	MedGen:C4225227,OMIM:616732	Optic atrophy 10 with or without ataxia, mental retardation, and seizures	germline	6	106622936	GTTATGGAGCTACAGCTTTAAATATGAAGCGTGATCCTTTACACGTGAAAATCAAAGGAGA
587779463	106900	NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188990361	CCTGGATTCCCTGGTATGAAAGGACACAGAGTAAGTAGAGTTTCTAAGTTGTTTACAAGGT
111033570	22389	NM_001099679.1(TRIM32):c.1459G>A (p.Asp487Asn)	TRIM32	Mar 18, 2017	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004;Human Phenotype Ontology:HP:0003198,MedGen:C0026848;MedGen:C0270968,OMIM:254110,Orphanet:ORPHA1878,SNOMED CT:240064008,SNOMED CT:43226001	Bardet-Biedl syndrome;Myopathy;Sarcotubular myopathy	germline;unknown	9	116699201	GCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCA
267606766	31842	NM_001361.4(DHODH):c.454G>A (p.Gly152Arg)	DHODH	Jan 01, 2010	MedGen:C0265257,OMIM:263750,SNOMED CT:66038001	Miller syndrome	germline	16	72017043	GTGCTCTGCAGGTATGGATTTAACAGTCACGGGCTTTCAGTGGTGGAACACAGGTTACGGG
28931584	32812	NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	SLC4A1	Sep 15, 2016	MedGen:C1969038,OMIM:611590,Orphanet:ORPHA93610;MedGen:C2675212,OMIM:612653	Renal tubular acidosis, distal, with hemolytic anemia;Spherocytosis type 4	germline;unknown	17	44257514	TTCTGCGAGACCAACGGTCTAGAGTACATCGTGGGCCGCGTGTGGATCGGCTTCTGGCTCA
199474822	24702	m.7444G>A	MT-CO1;MT-TS1	Jul 03, 2014	MedGen:C1838854,OMIM:580000,Orphanet:ORPHA168609;MedGen:C3151897,OMIM:500008;Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Aminoglycoside-induced deafness;Deafness, nonsyndromic sensorineural, mitochondrial;Leber's optic atrophy	germline	MT	7444	CATTCGAAGAACCCGTATACATAAAATCTAGACAAAAAAGGAAGGAATCGAACCCCCCAAA
748860341	188162	NM_001131019.2(GFAP):c.1289G>A (p.Arg430His)	GFAP	Oct 21, 2016	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44910143	ACCAGATTGTAAATGGAACGCCGCCGGCTCGCGGTTAGCTGCCTGCCTCTCAGACACGGCG
1057519076	359090	NM_002250.2(KCNN4):c.844G>A (p.Val282Met)	KCNN4	Dec 11, 2015	MedGen:C4225242,OMIM:616689	Dehydrated hereditary stomatocytosis 2	germline	19	43769805	CCACAGGGTGTCTGCTGCACAGCCCTGCTGGTGGCCGTGGTGGCCCGGAAGCTGGAGTTTA
72561723	32072	NM_004004.5(GJB2):c.134G>A (p.Gly45Glu)	GJB2	May 09, 2017	MedGen:C2673759,OMIM:220290;MedGen:C2673759,OMIM:220290;MedGen:C2673759,OMIM:220290;MedGen:C1835678,OMIM:148210	Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Keratitis-ichthyosis-deafness syndrome, autosomal dominant	germline;unknown	13	20189448	TCCTCGTTGTGGCTGCAAAGGAGGTGTGGGGAGATGAGCAGGCCGACTTTGTCTGCAACAC
-1	433529	NM_000118.3(ENG):c.220-1G>A	ENG	Oct 07, 2016	MedGen:CN169374	not specified	germline	9	127829828	ACTGTGTGTGTCTCTCCTCTGTGTCCCCCAGGGCCCGTCACAGCTGGAGCTGACTCTCCAG
-1	214856	NM_016218.3(POLK):c.1341G>A (p.Gln447=)	POLK	Jun 25, 2014	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75590425	ACTTTGCAGTGAGCTTGCTCAGGATCTACAGAAAGAAAGACTTAAGGTGCTTTATTTTGAT
727504275	176208	NM_000363.4(TNNI3):c.611G>A (p.Arg204His)	TNNI3	Jun 26, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	de novo;germline	19	55151856	ACATCGATGCACTGAGTGGAATGGAGGGCCGCAAGAAAAAGTTTGAGAGCTGAGCCTTCCT
121908759	44497	NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp)	CFTR	Sep 01, 2016	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN517202	Cystic fibrosis;Hereditary pancreatitis;not provided	germline	7	117592032	AAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGA
587777617	153683	NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln)	TGFB3	Dec 13, 2016	MedGen:C3553762,OMIM:614816;MedGen:C3810012,OMIM:615582;MedGen:CN517202	Loeys-Dietz syndrome 4;Loeys-Dietz syndrome 5;not provided	germline	14	75963343	ACCCGGGCCAGGGGGGTCAGAGGAAGAAGCGGGCTTTGGACACCAATTACTGCTTCCGGTG
587777445	141324	NM_022168.3(IFIH1):c.2159G>A (p.Arg720Gln)	IFIH1	May 01, 2014	MedGen:C3888244,OMIM:615846	Aicardi-goutieres syndrome 7	germline	2	162276832	AGCAATATACTAGGACTGAGGAATCAGCACGAGGAATAATCTTTACAAAAACACGACAGAG
267607744	221382	NM_000249.3(MLH1):c.381-1G>A	MLH1	Sep 11, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary nonpolyposis colon cancer;not provided	germline	3	37006990	TGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGC
11555217	34125	NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7	Nov 08, 2017	Human Phenotype Ontology:HP:0004691,MedGen:C1861383;Human Phenotype Ontology:HP:0011451,MedGen:C4020749;Human Phenotype Ontology:HP:0010569,MedGen:C1849185;Human Phenotype Ontology:HP:0001518,MedGen:C0021288;MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	2-3 toe syndactyly;Congenital microcephaly;Elevated 7-dehydrocholesterol;Small for gestational age;Smith-Lemli-Opitz syndrome;not provided	germline;maternal;paternal;unknown	11	71441401	ACAAGTATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCAAA
201133219	48239	NM_144577.3(CCDC114):c.1391+5G>A	CCDC114	Feb 06, 2013	MedGen:C3540844,OMIM:615067	Ciliary dyskinesia, primary, 20	germline	19	48297995	GCCCCACTTCAGCCCCCTGACACTCTGTGAGGCGCAGGGCAGGAGGGACGCAGAGGGGACG
104893974	32988	NM_000416.2(IFNGR1):c.230G>A (p.Cys77Tyr)	IFNGR1	May 01, 2000	MedGen:C0694566,OMIM:209950,SNOMED CT:240413000	Disseminated atypical mycobacterial infection	germline	6	137206279	GTGTTAAGAATTCAGAATGGATTGATGCCTGCATCAATATTTCTCATCATTATTGTAATAT
281865492	47592	NM_004614.4(TK2):c.389G>A (p.Arg130Gln)	TK2	Dec 06, 2012	MedGen:C3149750,OMIM:609560	Mitochondrial DNA depletion syndrome 2	not provided	16	66529054	TTTTTGTTTTCCTTTAGGTGTCATCTGTACGGTTGATGGAGAGGTCGATTCACAGCGCAAG
1114167378	413997	NM_000088.3(COL1A1):c.2343+1G>A	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50190816	CCTGGCCCTGCTGGTGCCCCTGGTGACAAGGTGAGGTGGCCGCCTCCCCACCTTCTGCCCT
104886119	35765	NM_000495.4(COL4A5):c.1571G>A (p.Gly524Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597052	AAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTA
137852638	24298	NM_005518.3(HMGCS2):c.634G>A (p.Gly212Arg)	HMGCS2	Sep 06, 2017	MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701;MedGen:CN517202	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;not provided	germline	1	119759915	AGTGGTAATGCTCGTCCCACAGGTGGGGCCGGAGCTGTGGCTATGCTGATTGGGCCCAAGG
121434433	21900	NM_001287.5(CLCN7):c.2285G>A (p.Arg762Gln)	CLCN7	Jan 26, 2001	MedGen:C1969106,OMIM:611490	Osteopetrosis autosomal recessive 4	germline	16	1447052	CGTCGCTCCCACGGGTGTTCAAGCTGTTCCGGGCCCTGGGCCTGCGGCACCTGGTGGTGGT
137853235	29988	NM_000601.5(HGF):c.495G>A (p.Ser165=)	HGF	Jul 01, 2009	MedGen:C1842342,OMIM:608265	Deafness, autosomal recessive 39	germline	7	81752250	TTATCATTTTAAAACTAGCTTTTTGCCTTCGAGCTATCGGGGTAAAGACCTACAGGAAAAC
-1	432452	NM_001270.2(CHD1):c.1379G>A (p.Arg460Lys)	CHD1	Sep 21, 2017	MedGen:CN482172,OMIM:617682	PILAROWSKI-BJORNSSON SYNDROME	germline	5	98897307	GTTTATTTCTACTAAAGGTATTAAAACAAAGGCCAAGGTTTGTAGCCCTGAAGAAGCAGCC
267607588	447315	NM_170707.3(LMNA):c.936+1G>A	LMNA	Jun 28, 2017	MedGen:CN043576	Charcot-Marie-Tooth disease, type 2	germline	1	156135313	TCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGG
587779856	132883	NM_000051.3(ATM):c.6572+1G>A	ATM	Apr 13, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108321421	GCTGGAAAGCATTGGGGAGCTTTTCTCAAGGTATGTAATTCGTATGACTTTGTTATCCTAA
397515354	19296	NM_000784.3(CYP27A1):c.844+1G>A	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	germline	2	218812750	TGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGA
794728594	196473	NM_170707.3(LMNA):c.871G>A (p.Glu291Lys)	LMNA	Apr 09, 2015	MedGen:CN517202	not provided	germline	1	156135247	AACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACA
727504269	175196	NM_000256.3(MYBPC3):c.1090+1G>A	MYBPC3	May 24, 2017	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47346206	GCATGAGGCGCGATGAGAAGAAGAGCACAGGTTAGCCCTTCCTCAGAGGGGAGAGGAGAGG
137854434	27742	NM_003235.4(TG):c.7123G>A (p.Gly2375Arg)	TG	Apr 01, 2007	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	Iodotyrosyl coupling defect	germline	8	133029907	TGGGTGCAGACCCACATCCGAGGATTTGGCGGGGACCCTCGGCGCGTGTCCCTGGCAGCAG
-1	446627	NM_004006.2(DMD):c.6317G>A (p.Trp2106Ter)	DMD	Sep 13, 2017	MedGen:CN517202	not provided	germline	X	32217037	GCAGGCGATTTGACAGATCTGTTGAGAAATGGCGGCGTTTTCATTATGATATAAAGATATT
104894484	19118	NM_017882.2(CLN6):c.368G>A (p.Gly123Asp)	CLN6	Feb 01, 2002	MedGen:C1866282,OMIM:601780,Orphanet:ORPHA228363	Ceroid lipofuscinosis neuronal 6	germline	15	68211793	CGTACGTGAGCATCATCATCTTCATCATGGGTGCCAGCATCCACCTGGTGGGTGACTCTGT
118203423	58242	NM_000368.4(TSC1):c.664-1G>A	TSC1	Jan 28, 2016	MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009;MedGen:C1854465,OMIM:191100	Malignant tumor of urinary bladder;Tuberous sclerosis 1	germline	9	132921437	CCTTTATAATTTGTCAACCCAACTCTTCTAGCCAATGATGGAGCATGTGCGAATTCATCCG
28934604	16697	NM_000785.3(CYP27B1):c.320G>A (p.Arg107His)	CYP27B1	Jun 14, 2016	MedGen:C0221468;MedGen:C0268689,OMIM:264700,Orphanet:ORPHA289157,SNOMED CT:67049004	Vitamin D-Dependent Rickets;Vitamin D-dependent rickets, type 1	germline	12	57766073	TGCTGCGACAGGAGGGACCCCGGCCCGAGCGCTGCAGCTTCTCGCCCTGGACGGAGCACCG
863225094	214099	NM_014225.5(PPP2R1A):c.773G>A (p.Arg258His)	PPP2R1A	Apr 26, 2017	MedGen:C4225352,OMIM:616362,Orphanet:ORPHA457284;MedGen:CN517202	Mental retardation, autosomal dominant 36;not provided	germline	19	52213076	TGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCAC
587779636	107114	NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189002356	GACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACATACATGTCCCATAG
104894674	21869	NM_016941.3(DLL3):c.1154G>A (p.Gly385Asp)	DLL3	Apr 01, 2000	MedGen:CN032975,OMIM:277300	Spondylocostal dysostosis 1, autosomal recessive	germline	19	39507099	TGCGCTGCCGCTGCCGCGCCGGCTTCGCGGGTCCTCGCTGCGAGCACGACCTGGACGACTG
387906623	38652	NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser)	FBN1	Jan 04, 2018	MedGen:C3280054,OMIM:614185;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Geleophysic dysplasia 2;Marfan syndrome;not provided	germline	15	48460258	AGGCCAGGCTTTGTCATCGACATTTATACCGGTTTACCCGTTGGTGAGTCATGACGGCATT
587779535	107015	NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del)	COL3A1	Jun 06, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not provided	germline	2	188996179	CCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAA
121908333	19766	NM_007078.2(LDB3):c.690-4733G>A	LDB3	May 09, 2017	MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912;MedGen:CN517202	Myofibrillar myopathy, ZASP-related;not provided	germline	10	86687163	CCCATCGAGGTGAAGGGGCTGGGCGGCAAGGCCACCATCATCCATGCGCAGTACAACACGC
387907050	39873	NM_152722.4(HEPACAM):c.275G>A (p.Arg92Gln)	HEPACAM	Nov 03, 2011	MedGen:C3151355,OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	germline	11	124924880	CCATTGGCACAGAGGTCATCGGCACCCTGCGGCCTGACTATCGAGACCGTATCCGACTCTT
483353129	143216	NM_000192.3(TBX5):c.338G>A (p.Arg113Lys)	TBX5	-	MedGen:CN517202	not provided	not provided	12	114399537	TCATGGACATTGTACCTGCCGACGATCACAGATACAAATTCGCAGATAATAAATGGTAGGC
786204873	187377	NM_000314.6(PTEN):c.801+1G>A	PTEN	Aug 23, 2017	MedGen:CN517202	not provided	germline	10	87958020	TTCCACAAACAGAACAAGATGCTAAAAAAGGTTTGTACTTTACTTTCATTGGGAGAAATAT
72653790	426942	NM_001171.5(ABCC6):c.2329G>A (p.Asp777Asn)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178884	GTATACAGAAAGGCAGCTGTGTACCTGCTGGATGACCCCCTGGCGGCCCTGGATGCCCACG
-1	430981	NM_001377.2(DYNC2H1):c.1953G>A (p.Lys651=)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Jeune thoracic dystrophy;Short-rib thoracic dysplasia 3 with or without polydactyly	maternal	11	103129005	ATCTGCCTTAGCATTTGAACAGATAATTAAGGTAAATGGGCTTTTAATTTTATTATAATTA
80187739	46188	NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn)	BRCA1	Aug 29, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43067608	GAAGAGACTACTCATGTTGTTATGAAAACAGGTATACCAAGAACCTTTACAGAATACCTTG
397508256	67993	NM_000492.3(CFTR):c.166G>A (p.Glu56Lys)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117509035	TATTGGTCCCACTTTTTATTCTTTTGCAGAGAATGGGATAGAGAGCTGGCTTCAAAGAAAA
-1	445229	NM_020529.2(NFKBIA):c.33G>A (p.Trp11Ter)	NFKBIA	Oct 23, 2017	MedGen:CN517202	not provided	germline	14	35404612	GTTCCAGGCGGCCGAGCGCCCCCAGGAGTGGGCCATGGAGGGCCCCCGCGACGGGCTGAAG
797044571	188186	NM_002055.4(GFAP):c.232G>A (p.Asp78Asn)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44915255	AGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCAGCTACATCGAGAAGGTTC
398123195	98443	NM_000159.3(GCDH):c.636-1G>A	GCDH	Nov 01, 2012	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline	19	12896204	TCAGACCCCTCACCGACTGTTCCATCCCCAGGATCACGAACTCGCCTATGGCCGATCTGTT
397507404	46720	NM_000059.3(BRCA2):c.8488-1G>A	BRCA2	Jul 05, 2017	MedGen:C2675520,OMIM:612555;MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;maternal;unknown	13	32370955	CTTTTTTGGTGTGTGTAACACATTATTACAGTGGATGGAGAAGACATCATCTGGATTATAC
397514770	75623	NM_001172646.1(PLCB4):c.1078G>A (p.Asp360Asn)	PLCB4	Mar 01, 2013	MedGen:C3553404,OMIM:614669	Auriculocondylar syndrome 2	germline	20	9387476	CTTCACTATATCCCTAGATGTGTTGAACTTGACTGCTGGGATGGAAAAGGTGAAGACCAAG
267607116	16421	NM_001142301.1(TMEM67):c.2218G>A (p.Gly740Ser)	TMEM67	Jun 26, 2017	MedGen:C1853153,OMIM:610688;MedGen:C3150796,OMIM:613550	Joubert syndrome 6;Nephronophthisis 11	germline	8	93808861	ACTTTTCAGGAAAATTTGTGTAGCCAGAGAGGTTTGGTACCCAACACAGATGGTCAGACTT
104886339	35805	NM_000495.4(COL4A5):c.1948+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598871	CAGGAAATCCAGGCCAGCCAGGAATACCAGGTAAGTTTACTGTGTTTTGTTTTAAACTTGG
116840808	28040	NM_000996.2(RPL35A):c.97G>A (p.Val33Ile)	RPL35A	Jun 25, 2009	MedGen:C2675859,OMIM:612528	Diamond-Blackfan anemia 5	germline	3	197951244	GAGCACACAGCTCTTCTTAAAATTGAAGGTGTTTACGCCCGAGATGAAACAGAATTCTATT
-1	433268	NM_000267.3(NF1):c.7907+1G>A	NF1	Aug 10, 2016	MedGen:CN169374	not specified	germline	17	31357370	TGTTGTGTTTCCCAAAGTCTTTCCTGTTGTGTAAGTATCTCCTTTTGATTTTAATTCACCT
121918162	16017	NM_032322.3(RNF135):c.857G>A (p.Arg286His)	RNF135	Aug 01, 2007	MedGen:C3280095,OMIM:614192,Orphanet:ORPHA137634	Macrocephaly, macrosomia, facial dysmorphism syndrome	germline	17	30998749	AGGATTCCCGTACAGTGACTGTGTCTCACCGCCCACAACCCTATCGCTGGAGCTGTGAGAG
746136135	187689	NM_002334.3(LRP4):c.3830G>A (p.Arg1277His)	LRP4	Apr 27, 2015	MedGen:C4225377,OMIM:616304	Myasthenic syndrome, congenital, 17	germline	11	46875551	GGACTGACTGGCAGACTCGGAGCATCCACCGTGCTGACAAGGGTACTGGCAGCAATGTCAT
947230593	426801	NM_001171.5(ABCC6):c.4213G>A (p.Gly1405Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150768	CAGCTAATTGTCCCAATCGTTCCCAGCGTGGGCCAGAAACAGCTCCTGTGTCTGGCACGTG
80358116	69417	NM_007294.3(BRCA1):c.302-1G>A	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43104262	CAAACATAATGTTTTCCCTTGTATTTTACAGATGCAAACAGCTATAATTTTGCAAAAAAGG
1060502656	404541	NM_004006.2(DMD):c.6118-1G>A	DMD	Jan 24, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32287702	TTTTTACTGTTTTAAAATTTTTATATTACAGAATATAAAAGATAGTCTACAACAAAGCTCA
-1	428524	NM_000288.3(PEX7):c.357G>A (p.Trp119Ter)	PEX7	Apr 22, 2016	MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789	Rhizomelic chondrodysplasia punctata type 1	germline	6	136845632	TCAATGTTTTTAGGTGTATAGTGTTGATTGGAGCCAAACCAGAGGTGAACAGCTTGTGGTG
80356529	20130	NM_015560.2(OPA1):c.1334G>A (p.Arg445His)	OPA1	Apr 07, 2017	MedGen:C1852267,OMIM:125250,Orphanet:ORPHA1215;MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009;MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN517202	Autosomal dominant optic atrophy plus syndrome;Dominant hereditary optic atrophy;Mitochondrial diseases;not provided	germline	3	193643996	TTTTTTCAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAAT
387906951	39570	NM_000017.3(ACADS):c.323G>A (p.Gly108Asp)	ACADS	Jun 01, 2010	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007	Deficiency of butyryl-CoA dehydrogenase	germline	12	120737098	ACGCCATCGCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGAGTGT
104894604	17467	NM_153006.2(NAGS):c.971G>A (p.Trp324Ter)	NAGS	Jun 01, 2003	MedGen:C0268543,OMIM:237310,Orphanet:ORPHA927,SNOMED CT:57119000	Hyperammonemia, type III	germline	17	44006584	CCGACCTGGACCTGGTGTGCAACGCCGAGTGGGTGAGCACAAAAGAACGGCAGCAGATGCG
-1	434195	NM_000527.4(LDLR):c.132G>A (p.Trp44Ter)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100287	CCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGAT
606231467	171279	NM_002529.3(NTRK1):c.1550G>A (p.Gly517Glu)	NTRK1	Oct 31, 2014	MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED CT:62985007	Hereditary insensitivity to pain with anhidrosis	germline	1	156876128	GCCGGGACATCGTGCTCAAGTGGGAGCTGGGGGAGGGCGCCTTTGGGAAGGTCTTCCTTGC
863223414	210224	NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln)	ACVRL1	Aug 04, 2017	MedGen:C1838163,OMIM:600376;MedGen:CN517202	Hereditary hemorrhagic telangiectasia type 2;not provided	germline	12	51913237	GGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTG
281874667	35750	NM_000495.4(COL4A5):c.1423G>A (p.Gly475Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591644	AAAGGACTCCAAGGAGAACAAGGAGTGAAAGGTTTGATCTCCAAACATATTCATTCCTTCA
387906403	23955	NM_003051.3(SLC16A1):c.-202G>A	SLC16A1	Sep 01, 2007	MedGen:C1864902,OMIM:610021,Orphanet:ORPHA165991	Exercise-induced hyperinsulinemic hypoglycemia	germline	1	112956192	AAGGCAGCCTCGCTGGCCCGGCCAGACAAAGTGGTGAGCTGCGACGTGACTGGCTAGCTGC
727503030	176785	NM_000501.3(ELN):c.1150+1G>A	ELN	Jun 14, 2017	Human Phenotype Ontology:HP:0004381,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED CT:268185002;MedGen:CN517202	Supravalvar aortic stenosis;not provided	germline	7	74054770	CTAAGGCAGCTGCAAAGGCAGCCAAATACGGTGAGTGCTATGCTGACAGCTCTGCCCCACC
387906545	31269	NM_000143.3(FH):c.793G>A (p.Ala265Thr)	FH	Mar 12, 2015	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002	Fumarase deficiency	germline	1	241506114	GTAAAATATGCAATGACAAGAATAAAAGCTGCCATGCCAAGAATCTATGAGCTCGCAGCTG
199422295	47712	NM_198253.2(TERT):c.2045G>A (p.Gly682Asp)	TERT	May 10, 2012	MedGen:C1851970,OMIM:127550	Dyskeratosis congenita autosomal dominant	not provided	5	1279376	GCCCCGGCCTCCTGGGCGCCTCTGTGCTGGGCCTGGACGATATCCACAGGGCCTGGCGCAC
1064793840	410890	NM_001848.2(COL6A1):c.815G>A (p.Gly272Asp)	COL6A1	Jul 13, 2015	MedGen:CN517202	not provided	germline	21	45989094	TGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGA
730881386	222132	NM_000051.3(ATM):c.8988-1G>A	ATM	Apr 11, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108365324	CTCACTGAAACCTTTGTGTTTTTGTCCTTAGTGATATTGACCAGAGTTTCAACAAAGTAGC
767769359	364483	NM_021222.2(PRUNE1):c.383G>A (p.Arg128Gln)	PRUNE1	Sep 19, 2017	Human Phenotype Ontology:HP:0012443,MedGen:C4021085;MedGen:CN243994,OMIM:617481;MedGen:CN517202	Abnormality of brain morphology;Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies;not provided	germline;inherited	1	151024658	AGGAGGCAGTAGCAGAGGTGCTAGACCATCGACCCATCGAGCCGAAACACTGCCCTCCCTG
587783577	169864	NM_178151.2(DCX):c.667G>A (p.Gly223Arg)	DCX	Jul 07, 2014	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401028	GATATCACAGAAGCCATCAAACTGGAGACCGGGGTTGTCAAAAAACTCTACACTCTGGATG
796052653	203724	NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn)	KCNQ2	Dec 27, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	de novo;germline	20	63413526	CGGAAGTTCAAGGAGAGCCTGCGGCCCTACGACGTGATGGACGTCATCGAGCAGTACTCAG
794728256	197628	NM_000138.4(FBN1):c.6752G>A (p.Cys2251Tyr)	FBN1	Aug 13, 2014	MedGen:CN517202	not provided	germline	15	48430790	ATTGTACATTTTTTACAGATGAGGATGAGTGTGAAGAGGGAAAACATGACTGTACTGAAAA
794728162	197817	NM_000138.4(FBN1):c.640G>A (p.Gly214Ser)	FBN1	Jul 11, 2017	MedGen:CN229799;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48537707	TGCACAAAAACGCTCTGCTGTGCCACAGTCGGCCGAGCCTGGGGCCACCCCTGTGAGATGT
-1	441652	NM_000161.2(GCH1):c.510-1G>A	GCH1	Dec 22, 2016	MedGen:CN517202	not provided	germline	14	54847131	TGATTAACTAAAACAATTCTTTCTTTTCTAGGATTGTAGAAATCTATAGTAGAAGACTACA
199469636	39475	NM_017415.2(KLHL3):c.1583G>A (p.Arg528His)	KLHL3	Oct 01, 2014	MedGen:C3469605,OMIM:614495,Orphanet:ORPHA300525;Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism type 2D;Pseudohypoaldosteronism, type 2	germline	5	137628305	AGCAAGTGGCAGACATGAACATGTGCCGGCGCAACGCAGGTAATGACTGCTCTCTCCATCT
72558476	103266	NM_000531.5(OTC):c.976G>A (p.Glu326Lys)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411970	TTTTATTCTCCTCGATCACTAGTGTTCCCAGAGGCAGAAAACAGAAAGTGGACAATCATGG
267606838	33442	NM_000512.4(GALNS):c.1019G>A (p.Gly340Asp)	GALNS	Aug 01, 2010	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88826822	GCCATGTGTTTCAGGTGAGCCACCAGCTGGGCAGCATCATGGACCTCTTCACCACCAGCCT
587779569	107026	NM_000090.3(COL3A1):c.1124G>A (p.Gly375Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188993434	CTGGACAAAGAGGAGAACCTGGACCTCAGGGACACGCTGGTGCTCAAGGTCCTCCTGTAAG
863225045	213904	NM_002860.3(ALDH18A1):c.413G>A (p.Arg138Gln)	ALDH18A1	Sep 03, 2015	MedGen:C4225268,OMIM:616603	Cutis laxa, autosomal dominant 3	germline	10	95637327	GCCATGAGATCCTTCTGTCTCAGAGCGTGCGGCAGGCCCTCCACTCGGGGCAGAACCAGCT
200614421	440179	NM_001080463.1(DYNC2H1):c.7967G>A (p.Arg2656His)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	11	103199355	TCCCTGGAGGTTCACTTCTATTAGCAGGACGCAGTGGTGTAGGTCGTCGGACCATCACTTC
199472921	78125	NM_000238.3(KCNH2):c.1681G>A (p.Ala561Thr)	KCNH2	Jun 20, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150951712	TTCTTGCTCATGTGCACCTTTGCGCTCATCGCGCACTGGCTAGCCTGCATCTGGTACGCCA
80358029	131383	NM_007294.3(BRCA1):c.5407-1G>A	BRCA1	Mar 23, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43047704	TTTGAATGCTCTTTCCTTCCTGGGGATCCAGGGTGTCCACCCAATTGTGGTTGTGCAGCCA
312262904	49419	NM_000095.2(COMP):c.2155G>A (p.Gly719Ser)	COMP	Feb 28, 2013	MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	not provided	19	18783126	AGCAACGTGGTCTTGGACACAACCATGCGGGGTGGCCGCCTGGGGGTCTTCTGCTTCTCCC
120074135	18010	NM_000271.4(NPC1):c.2848G>A (p.Val950Met)	NPC1	Aug 01, 2016	MedGen:C3179455,OMIM:257220;MedGen:CN517202	Niemann-Pick disease type C1;not provided	germline;unknown	18	23539418	TCGTCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGG
121907955	18934	NM_000520.5(HEXA):c.1511G>A (p.Arg504His)	HEXA	Feb 12, 2016	MedGen:CN068769;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Gm2-gangliosidosis, juvenile;Tay-Sachs disease	germline;unknown	15	72345461	CATTTGCCTATGAACGTTTGTCACACTTCCGCTGTGAATTGCTGAGGTAAGCAAGCTGTGG
138336847	264490	NM_000314.6(PTEN):c.634+5G>A	PTEN	Sep 19, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87952264	TCCAATGTTCAGTGGCGGAACTTGCAGTAAGTGCTTGAAATTCTCATCCTTCCATGTATTG
267607127	27471	NM_000363.4(TNNI3):c.607G>A (p.Gly203Ser)	TNNI3	Aug 01, 1997	MedGen:C1860752,OMIM:613690	Familial hypertrophic cardiomyopathy 7	germline	19	55151860	AAGAACATCGATGCACTGAGTGGAATGGAGGGCCGCAAGAAAAAGTTTGAGAGCTGAGCCT
387907320	48459	NM_001080414.3(CCDC88C):c.5058+1G>A	CCDC88C	Dec 18, 2012	MedGen:C0020255,OMIM:236600,SNOMED CT:230745008	Hydrocephalus	germline	14	91277921	GAGGAGAGCAACCGCAGCTCCCCCACCCATGTGAGTGATCCGGACACGGACTTGGCCCGTC
886044840	269483	NM_000252.2(MTM1):c.444+1G>A	MTM1	Dec 16, 2015	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150619140	AGATACGCGTTTCCCCTGGCTCACAGTCTGGTAAATTCCAGTGCTCTCCTCAGCGTGGGAA
121912580	23584	NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp)	SMAD4	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;na;MedGen:C1832942,OMIM:175050;Human Phenotype Ontology:HP:0006725,MedGen:C0281361	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Colorectal Neoplasms;JP and JP/HHT;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic adenocarcinoma	germline;somatic	18	51067036	TTTTCTTCCTAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGAAGGTGA
606231302	167936	NM_003051.3(SLC16A1):c.938G>A (p.Arg313Gln)	SLC16A1	Nov 13, 2014	MedGen:C4016684	Monocarboxylate transporter 1 deficiency, autosomal dominant	germline	1	112917468	CCATTCTGGCTTTTGTTGACATGGTAGCCCGACCATCTATGGGACTTGTAGCCAACACAAA
587784403	170157	NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln)	SMC1A	Feb 08, 2013	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	germline	X	53411822	CCCTGGCCCAGGAGCTGGAGAAATTCAATCGAGACCAGAAAGCTGACCAGGACCGTCTGGA
121907901	18527	NM_024426.4(WT1):c.1301G>A (p.Arg434His)	WT1	Feb 24, 2017	MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009;MedGen:CN517202	Drash syndrome;not provided	germline;unknown	11	32392704	ACTTCAAGGACTGTGAACGAAGGTTTTCTCGTTCAGACCAGCTCAAAAGACACCAAAGGAG
-1	466633	NM_000267.3(NF1):c.4992G>A (p.Trp1664Ter)	NF1	Jan 11, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31326039	CGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGGAGTACACCAAGTATCATGAGCGG
869312726	225902	NM_017671.4(FERMT1):c.958-1G>A	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6097034	AACATTTCTAAAACGTCTGTTTTCATTTTAGTACCACATTAGCAAACTGTCGTTGTCTGCT
886041431	264855	NM_152296.4(ATP1A3):c.2840G>A (p.Gly947Glu)	ATP1A3	Dec 11, 2015	MedGen:CN517202	not provided	germline	19	41967743	GTGCCTCCAGGAACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCTT
121909350	23432	NM_000557.4(GDF5):c.1133G>A (p.Arg378Gln)	GDF5	Aug 15, 2008	MedGen:C1856738,OMIM:228900,Orphanet:ORPHA2639	Fibular hypoplasia and complex brachydactyly	germline	20	35434282	CCGTGTATGAGTACCTGTTCAGCCAGCGGCGAAAACGGCGGGCCCCACTGGCCACTCGCCA
118204057	16561	NM_000237.2(LPL):c.644G>A (p.Gly215Glu)	LPL	Oct 20, 2017	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004;MedGen:CN517202	Hyperlipoproteinemia, type I;not provided	germline	8	19954222	TTGTAGACGTCTTACACACATTCACCAGAGGGTCCCCTGGTCGAAGCATTGGAATCCAGAA
886043634	271674	NM_000451.3(SHOX):c.440G>A (p.Arg147His)	SHOX	Apr 06, 2016	MedGen:C0265309,OMIM:127300;MedGen:C1845118,OMIM:300582,Orphanet:ORPHA314795	Leri Weill dyschondrosteosis;Short stature, idiopathic, X-linked	germline	X	634780	ACGAGACCCATTACCCCGACGCCTTCATGCGCGAGGAGCTCAGCCAGCGCCTGGGGCTCTC
765592794	207077	NM_018075.4(ANO10):c.337+1G>A	ANO10	Jun 27, 2014	MedGen:C3150998,OMIM:613728,Orphanet:ORPHA284289	Spinocerebellar ataxia, autosomal recessive 10	germline	3	43600383	GAACCAGACAGAACTTCAAAGGTTTTGATGGTAAGCCCTAAGTTCTTTGTCTCTGTTAGAA
113993949	98525	NM_000202.7(IDS):c.253G>A (p.Ala85Thr)	IDS	Sep 05, 2012	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	germline;unknown	X	149503477	GCTTCTGCTCCCTAACAGCAAGCAGTGTGCGCCCCGAGCCGCGTTTCTTTCCTCACTGGCA
-1	486704	NM_002144.3(HOXB1):c.620G>A (p.Arg207His)	HOXB1	Mar 06, 2018	MedGen:C3553625,OMIM:614744	Hereditary congenital facial paresis 3	germline	17	48529833	AGCCAGGCCTGGGCTCGCCCAGTGGCCTCCGCACCAACTTCACCACAAGGCAGCTGACAGA
66737144	103070	NM_000531.5(OTC):c.386+1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38381430	TGTGAATGAAAGTCTCACGGACACGGCCCGGTTTGTAAATATTTTCTTCTCTCCAAAGCTG
587777176	106799	NM_006767.3(LZTR1):c.264-13G>A	LZTR1	Mar 04, 2014	MedGen:C3810283,OMIM:615670	Schwannomatosis 2	unknown	22	20985828	GTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGA
139770721	180483	NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys)	ATM	Jul 12, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108315911	GTGGAGGGAAGATGTTACAACCCATTACTAGGTAAATTGCATTTTTCTAAACAACGGTATA
1060499789	389237	NM_022124.5(CDH23):c.5749G>A (p.Glu1917Lys)	CDH23	Jun 04, 2016	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71785667	ATCGTCACTGTGAACCGGCCCCTGGACCGCGAGCGGATCCCAGAGTACAAGCTGACCATTT
775319351	426799	NM_001171.5(ABCC6):c.4241G>A (p.Arg1414His)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150740	TGGGCCAGAAACAGCTCCTGTGTCTGGCACGTGCCCTTCTCCGGAAGACCCAGATCCTCAT
118204016	16673	NM_000018.3(ACADVL):c.1349G>A (p.Arg450His)	ACADVL	Apr 23, 2017	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005	Very long chain acyl-CoA dehydrogenase deficiency	germline	17	7223984	TGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGAT
137852932	19078	NM_021978.3(ST14):c.3G>A (p.Met1Ile)	ST14	Jul 01, 2008	MedGen:C1865595,OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	germline	11	130159982	GTGAGACCCGCGAGCGGCCTCGGGGACCATGGGGAGCGATCGGGCCCGCAAGGGCGGAGGG
104886150	35808	NM_000495.4(COL4A5):c.1957G>A (p.Gly653Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108601401	ATTGATTTACTCTTGCTTTCAGGTCCTAAAGGGGATCCAGGTCAGACTATAACCCAGCCGG
387907210	40613	NM_005691.3(ABCC9):c.3128G>A (p.Cys1043Tyr)	ABCC9	Jun 08, 2012	MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517	Hypertrichotic osteochondrodysplasia	germline	12	21844884	CCTACTATGTGGCTGGCTTTAGCATACTCTGTGGAGCAGGCATTTTCCTTTGCCTTGTTAC
104894684	19273	NM_024301.4(FKRP):c.953G>A (p.Cys318Tyr)	FKRP	May 01, 2004	MedGen:C3150413,OMIM:613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	germline	19	46756403	TCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTA
727503915	177691	NM_003494.3(DYSF):c.5525+1G>A	DYSF	Jan 23, 2014	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71669208	GGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAG
754714105	230630	NM_001089.2(ABCA3):c.128G>A (p.Arg43His)	ABCA3	Feb 26, 2015	MedGen:C3711368	Pulmonary Surfactant Metabolism Dysfunction	germline	16	2326201	TGCTGTTTTCTGGGATCCTCATCTGGCTCCGCTTGAAGATTCAGTCGGAAAATGTGCCCAA
867092741	433161	NM_000296.3(PKD1):c.11710-1G>A	PKD1	Mar 16, 2017	MedGen:CN517202;MedGen:CN169374	not provided;not specified	germline	16	2091175	CCTCCCGCCCTCCTGACCGCGCCCCCCACAGGTGTGCCTGCTGCTGTTCGCCGTGCACTTC
104894326	32869	NM_000486.5(AQP2):c.190G>A (p.Gly64Arg)	AQP2	Mar 17, 2017	MedGen:C4015884;MedGen:CN517202	Diabetes insipidus, nephrogenic, autosomal recessive;not provided	germline	12	49951020	ACCCTGGTACAGGCTCTGGGCCACATAAGCGGGGCCCACATCAACCCTGCCGTGACTGTGG
869312732	226063	NM_030657.3(LIM2):c.587G>A (p.Gly196Glu)	LIM2	Mar 10, 2016	MedGen:C3809004,OMIM:615277	Cataract 19, multiple types	germline	19	51380262	GGGGGTGAATTTGAACTTCTTCTCATGCAGGGATTTTCTACATGTGCGCCTACCGGGTGCA
886039694	259715	NM_000393.4(COL5A2):c.2627G>A (p.Gly876Glu)	COL5A2	Aug 30, 2016	MedGen:CN517202	not provided	germline	2	189052945	CAGGACAGAAGGGAGATGCTGGTTCTCCTGGACCACAAGGTTTAGCAGGATCCCCTGGCCC
1064797099	413212	NM_003620.3(PPM1D):c.1281G>A (p.Trp427Ter)	PPM1D	May 03, 2017	MedGen:CN243957,OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	germline	17	60663015	TATTTTTCAGTCACTGGAGGAGGATCCATGGCCAAGGGTGAATTCTAAGGACCATATACCT
587777156	106639	NM_002601.3(PDE6D):c.140-1G>A	PDE6D	Jan 01, 2014	MedGen:C3810278,OMIM:615665	Joubert syndrome 22	germline	2	231738139	AAGGCTTCAACATTTGTTTTTCTCTTACCAGCCCGTGTTCCCAAGAAAATCCTCAAGTGCA
886041028	17208	NM_007214.4(SEC63):c.733+1G>A	SEC63	Jun 01, 2004	MedGen:C4310769,OMIM:617004	Polycystic liver disease 2	germline	6	107908926	TTTATAAAACCCGAAATATGGATATGAAACGTAAGTAAACTTTAAGTAACTTTGCTATTAA
797045211	207844	NM_000352.4(ABCC8):c.4119+1G>A	ABCC8	Jul 29, 2015	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline	11	17396915	GTCAATGCCCTCATCGCCCCTGGACAGAAGGTCAGAGCACGGGCCCAACCCAATGCTGCAG
746738473	359152	NM_020810.3(TRMT5):c.872G>A (p.Arg291His)	TRMT5	Dec 27, 2017	MedGen:C4225290,OMIM:616539,Orphanet:ORPHA477684	Combined oxidative phosphorylation deficiency 26	germline	14	60976047	GGAATCCTCGTCTGTCTACAGAACACAGCCGTATCACAGAACTTCTCAAACCTGGGGATGT
137854555	15389	NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter)	NF1	Jun 12, 1997	Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834	Juvenile myelomonocytic leukemia	germline	17	31261810	AGAGCACAAACCTGTGGCAGATACACACTGGTCCAGCCTTAACCTTACCAGTTCAAAGTTT
180177177	200447	NM_000030.2(AGXT):c.166-1G>A	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869169	CTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAG
879254086	245117	NM_001005360.2(DNM2):c.1678G>A (p.Glu560Lys)	DNM2	Nov 18, 2015	MedGen:CN517202	not provided	germline	19	10819986	TGACTCTTTTCCCTCCACCCTCAGGAGAAAGAGAAGAAGTACATGCTGCCTCTGGACAACC
730880701	179219	NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter)	MYBPC3	Oct 16, 2014	MedGen:CN517202	not provided	germline	11	47333726	TCAGGGCAAGCCCCGGCCTCAGGTGACCTGGACCAAAGAGGGGCAGCCCCTGGCAGGCGAG
119103270	17290	NM_000265.5(NCF1):c.125G>A (p.Arg42Gln)	NCF1	Jul 01, 2001	MedGen:C1856251,OMIM:233700	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1	germline	7	74777319	GGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGT
121964856	27448	NM_001001430.2(TNNT2):c.275G>A (p.Arg92Gln)	TNNT2	Jun 19, 2017	MedGen:C1861864,OMIM:115195;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided	germline	1	201365297	CCGCAGCGGTCCACCCACAGGACATCCACCGGAAGCGCATGGAGAAGGACCTGAATGAGTT
104893764	28652	NM_001122757.2(POU1F1):c.766G>A (p.Glu256Lys)	POU1F1	Aug 01, 2005	MedGen:C2751608,OMIM:613038	Pituitary hormone deficiency, combined 1	germline	3	87260082	CCCGCCAGCATTGCTGCTAAAGATGCTCTGGAGAGACACTTTGGAGAACAGAATAAACCTT
-1	431632	NM_000350.2(ABCA4):c.1497G>A (p.Trp499Ter)	ABCA4	Apr 20, 2017	MedGen:C1858806,OMIM:604116;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Cone-rod dystrophy 3;Retinal dystrophy	germline;unknown	1	94077747	CCAGGCTGACGACATGGCCAACTTCGACTGGAGGGACATATTTAACATCACTGATCGCACC
864321659	26386	NM_000061.2(BTK):c.1750+5G>A	BTK	Jun 13, 1994	MedGen:C0472813,OMIM:307200,Orphanet:ORPHA632,SNOMED CT:234533006	X-linked agammaglobulinemia with growth hormone deficiency	germline	X	101353865	CAGCAAATCTGACATTTGGGCTTTTGGTAAGTGGATAAGATTACACAGATTATACAGCTCA
886039241	259325	NM_017583.5(TRIM44):c.463G>A (p.Gly155Arg)	TRIM44	Oct 03, 2016	MedGen:C4310695,OMIM:617142	Aniridia 3	germline	11	35663574	AACCAAGAAGAAGGGGAATCCGAGGCGGAGGGAGAAACTGAGGCAGAAAGTGAATTTGACC
879255629	247503	NM_145861.2(EDARADD):c.367G>A (p.Asp123Asn)	EDARADD	Aug 09, 2016	na	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	germline	1	236482368	AGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTC
121918392	32888	NM_000041.3(APOE):c.61G>A (p.Glu21Lys)	APOE	Aug 01, 1995	na	HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5	germline	19	44907777	TTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCG
1085307187	414116	NM_001204.6(BMPR2):c.247G>A (p.Gly83Arg)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464979	TCAAAAGGGGACATAAATCTTGTAAAACAAGGCAAGTGATACTTTCCTTACCTGAAATGAC
121912846	32492	NM_000094.3(COL7A1):c.6110G>A (p.Gly2037Glu)	COL7A1	Mar 02, 2016	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568;MedGen:CN517202	Generalized dominant dystrophic epidermolysis bullosa;not provided	germline	3	48575409	CCGGGCCTTCCGGCCTTGCCGGGGAGCCTGGAAAGCCTGGTATTCCCGGGCTCCCAGGCAG
886041558	264681	NM_003482.3(KMT2D):c.16184G>A (p.Trp5395Ter)	KMT2D	Feb 28, 2016	MedGen:CN517202	not provided	germline	12	49022744	CATCTCAGTACCGGCGGCTGCGCACCGAATGGAAGAACAACGTGTACCTGGCTCGCTCCCG
869025183	26732	NM_004484.3(GPC3):c.337+1G>A	GPC3	Oct 15, 2005	MedGen:C0796154,OMIM:312870,Orphanet:ORPHA373,SNOMED CT:439143004	Simpson-Golabi-Behmel syndrome	germline	X	133953049	TAATTATTCAGAATGCTGCGGTTTTCCAAGGTGAGTTCTGGGGATTATTTTAGATGTGCTG
28933979	28456	NM_000371.3(TTR):c.148G>A (p.Val50Met)	TTR	Jul 12, 2017	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008;MedGen:CN517202	Amyloidogenic transthyretin amyloidosis;not provided	germline	18	31592974	GTCCGAGGCAGTCCTGCCATCAATGTGGCCGTGCATGTGTTCAGAAAGGCTGCTGATGACA
200336777	24714	m.15812G>A	MT-CYB	Jan 01, 1992	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	15812	CCTTTTACCATCATTGGACAAGTAGCATCCGTACTATACTTCACAACAATCCTAATCCTAA
869312671	225818	NM_004958.3(MTOR):c.4785G>A (p.Met1595Ile)	MTOR	Sep 04, 2015	MedGen:C4225259,OMIM:616638,Orphanet:ORPHA457485	Smith-Kingsmore syndrome	de novo	1	11144735	CTTCCATCAGGCCATGGTTTCTTGCCACATGCTGTCCGAGCTGGAGGAGGTTATCCAGTAC
267607261	46911	NM_002437.4(MPV17):c.206G>A (p.Trp69Ter)	MPV17	May 17, 2012	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229	Navajo neurohepatopathy	not provided	2	27312753	TTTACTTCCAGGGCCCTGTGGTAGGAGGCTGGTACAAGGTTTTGGATCGGTTCATCCCTGG
397517147	49139	NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys)	SOS1	Feb 28, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	2	39023131	AACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACATTGGACAGTGTTGTAATG
-1	446801	NM_000390.3(CHM):c.1771-1G>A	CHM	Dec 17, 2015	MedGen:CN517202	not provided	germline	X	85864822	AAAACGATTTTATCTTTTCTTCCTTGGCCAGGCTGAAACACTTTTCCAGGAAATCTGCCCC
121909089	22318	NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln)	DNM2	Feb 08, 2013	MedGen:CN221282;MedGen:C1834558,OMIM:160150,Orphanet:ORPHA169189	Myopathy, centronuclear;Myopathy, centronuclear, 1	germline	19	10793833	GCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAGTGCC
137852569	24852	NM_000044.4(AR):c.1789G>A (p.Ala597Thr)	AR	Jun 01, 1992	MedGen:C0268301,OMIM:312300,Orphanet:ORPHA90797,SNOMED CT:58672003	Partial androgen insensitivity syndrome	germline	X	67686030	GTTCTCCCAGGGAAACAGAAGTACCTGTGCGCCAGCAGAAATGATTGCACTATTGATAAAT
-1	446531	NM_005629.3(SLC6A8):c.1254+1G>A	SLC6A8	Oct 31, 2017	MedGen:CN517202	not provided	germline	X	153694018	ATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAG
786204597	227135	NM_004004.5(GJB2):c.598G>A (p.Gly200Arg)	GJB2	Apr 01, 2016	MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290	Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A	inherited;unknown	13	20188984	GTCTTCACAGTGTTCATGATTGCAGTGTCTGGAATTTGCATCCTGCTGAATGTCACTGAAT
1060499534	224778	NM_001257988.1(TYMP):c.1159G>A (p.Gly387Ser)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526246	GAGCAGGAGGAGCTGCTGGCGCCCGCAGATGGTGAGCGTCGGGGGAGTCCCCGTCCTTCCG
727503271	175502	NM_000257.3(MYH7):c.1012G>A (p.Val338Met)	MYH7	Nov 20, 2014	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23429901	TATGGGGCCTCCCTACAGAACGCTTTTGATGTGCTGGGCTTCACTTCAGAGGAGAAAAACT
797045017	205039	NM_022406.3(XRCC4):c.482G>A (p.Arg161Gln)	XRCC4	Jul 01, 2015	MedGen:C4225288,OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	germline	5	83195936	TTCTGAGAGATTGGAATGATGTTCAAGGACGGTGTGTACACAGTTTGCTTGTGGTATAAAA
28934274	15967	NM_000404.3(GLB1):c.367G>A (p.Gly123Arg)	GLB1	Apr 20, 2016	MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:CN517202	Infantile GM1 gangliosidosis;Infantile GM1 gangliosidosis;not provided	germline	3	33068849	GAGCTGGGACTGCTGGTTATCCTGAGGCCCGGGCCCTACATCTGTGCAGAGTGGGAAATGG
535486098	169788	NM_003560.3(PLA2G6):c.1613G>A (p.Arg538His)	PLA2G6	May 21, 2015	Human Phenotype Ontology:HP:0012675,MedGen:C4021076;MedGen:CN517202	Iron accumulation in brain;not provided	germline	22	38120888	TGTTCCTAGGTAAGTCCATGGCCTACATGCGCGGCATGTACTTTCGCATGAAGGATGAGGT
150885084	264312	NM_000083.2(CLCN1):c.854G>A (p.Gly285Glu)	CLCN1	Oct 18, 2016	MedGen:C0751360,OMIM:255700,SNOMED CT:20305008;MedGen:CN517202	Congenital myotonia, autosomal recessive form;not provided	germline	7	143330772	GCCCCCAACCACACTTCTGTGCCCCTGCAGGAGTGCTATTTAGCATCGAGGTCACCTCCAC
386834057	71270	NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter)	VPS13B	Dec 08, 2016	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99859307	TCACCCCTTCCCTCTTGTGCGTTGCAGGCTGGGTAGTTGGGTCTCTGGATATTCTTGGCAG
137854600	24415	NM_000335.4(SCN5A):c.4865G>A (p.Arg1622Gln)	SCN5A	Sep 01, 2006	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C1859062,OMIM:603830;MedGen:CN513938	Congenital long QT syndrome;Long QT syndrome 3;Long qt syndrome 3/6, digenic	germline	3	38551504	AGAAGTACTTCTTCTCCCCGACGCTCTTCCGAGTCATCCGCCTGGCCCGAATAGGCCGCAT
587784071	168119	NM_022455.4(NSD1):c.1262G>A (p.Trp421Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177209661	TTAAGGTTCCTCAGAAAATTTTGAGTAAATGGGAAGCCAGTGTTGGACTTGCAGAACAGTA
80357307	70275	NM_007294.3(BRCA1):c.5510G>A (p.Trp1837Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43045760	TGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTG
113173389	98458	NM_000169.2(GLA):c.281G>A (p.Cys94Tyr)	GLA	May 10, 2013	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101403899	CAGGTTATGAGTACCTCTGCATTGATGACTGTTGGATGGCTCCCCAAAGAGATTCAGAAGG
104886317	35712	NM_000495.4(COL4A5):c.1165+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108586748	AGGGTCCACCTGGCCTTCCTGGACCTCCAGGTAAATGAGATTGCATTTATGGCCTTGTTCT
72552281	368543	NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg)	ALDH5A1	Mar 19, 2015	MedGen:CN517202	not provided	germline	6	24503350	TGGTTCTCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCACACCCCGGCAAAGGACA
863224444	212745	NM_000264.4(PTCH1):c.945+1G>A	PTCH1	Dec 09, 2015	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	germline	9	95480389	GCCACAGCCCCCAACAAAAATTCAACCAAAGTGAGTACCAGCAGTGAGCGCTCTCAGAAGG
747904021	192576	NM_001178007.1(BBS12):c.1704G>A (p.Trp568Ter)	BBS12	Dec 23, 2014	MedGen:C1859570,OMIM:615989	Bardet-Biedl syndrome 12	germline	4	122743596	GAAAAAAGAAAACCATGCCTGCTCAGGGTGGCTGCATAATACTTCCTCTTGGCTGGCTTCA
281874703	35898	NM_000495.4(COL4A5):c.2722G>A (p.Gly908Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108621847	ATGGGTATGATGGGACCTCCAGGCCCACCAGGACCTTTGGGAATTCCTGGCAGGAGTGGTG
121917771	27300	NM_003361.3(UMOD):c.764G>A (p.Cys255Tyr)	UMOD	Mar 01, 2003	MedGen:C0268113,OMIM:162000,Orphanet:ORPHA209886,SNOMED CT:46785007	Familial juvenile gout	germline	16	20348537	GCAAGGCCTGCGCGCACTGGAGCGGCCACTGCTGCCTGTGGGATGCGTCCGTCCAGGTGAA
886041410	264987	NM_000496.2(CRYBB2):c.563G>A (p.Arg188His)	CRYBB2	Oct 03, 2016	MedGen:CN517202	not provided	germline	22	25231717	GGGCCCCTCACCCCCAGGTGCAGTCCGTGCGCCGTATCCGCGACATGCAGTGGCACCAACG
121912853	32499	NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg)	COL7A1	Apr 01, 1996	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	Recessive dystrophic epidermolysis bullosa	germline	3	48566719	TGTGTCTGACAGGGTGAGCGAGGTCCCCCCGGAGAGAGAGTGGTGGGGGCTCCTGGGGTCC
113560320	15440	NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg)	SDHAF2	Sep 06, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1866552,OMIM:601650;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Paragangliomas 2;not provided	germline	11	61437820	GCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGT
1057518967	360896	NM_000089.3(COL1A2):c.2549G>A (p.Gly850Glu)	COL1A2	Apr 01, 2014	Human Phenotype Ontology:HP:0005855,MedGen:C1853171;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Multiple prenatal fractures;Skeletal dysplasia	unknown	7	94423102	CTGGCTTCGCTGGTGAGAAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCA
61751377	105240	NM_000350.2(ABCA4):c.5196+1G>A	ABCA4	Aug 17, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline;unknown	1	94019581	TACTGGGTGACCAACTTCCTCTGGGACATCGTAAGTGTCAGTTTACAGCGCCTCCCTCCCC
1057519057	362058	NM_005215.3(DCC):c.2677G>A (p.Ala893Thr)	DCC	Jan 01, 2016	MedGen:C0175754,OMIM:217990,Orphanet:ORPHA200	Corpus callosum agenesis	germline	18	53391876	GTCCGGTGGAGAACCAGCTTTTCTGCAAGTGCAAAATACAAGGTGAAGTTCTAATTGATAG
786200936	21359	NM_001022.3(RPS19):c.380G>A (p.Gly127Glu)	RPS19	Mar 19, 2009	MedGen:C2676137,OMIM:105650	Diamond-Blackfan anemia 1	germline	19	41869722	CCCACAGCGGCCGCAAACTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACA
397516083	51977	NM_000256.3(MYBPC3):c.927-9G>A	MYBPC3	Aug 22, 2017	MedGen:CN230736;MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C3715165,OMIM:615396;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10;Primary familial hypertrophic cardiomyopathy;not provided	germline;unknown	11	47346379	AGTCTTGCCCCCGGCCACAGCCTAGACTGCGGGACACAGGGACTCGAAGCTGGAGGCACCA
180177360	78977	NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter)	VPS13B	Oct 28, 2014	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline;unknown	8	99556552	GCAGTCCATCAATATTGGTACTGCACAGTGGCATCAACTAAAACCAGAGAAGGAAAGTGTC
200086262	214743	NM_033453.3(ITPA):c.452G>A (p.Trp151Ter)	ITPA	Nov 10, 2017	MedGen:C4225256,OMIM:616647,Orphanet:ORPHA457375;MedGen:CN517202	Epileptic encephalopathy, early infantile, 35;not provided	germline	20	3221881	TGGCACCCAGAGGCTGCCAGGACTTTGGCTGGGACCCCTGCTTTCAGCCTGATGGATATGA
1057520592	374913	NM_001271.3(CHD2):c.1809+1G>A	CHD2	Jan 04, 2017	MedGen:CN517202	not provided	germline	15	92955513	ACAACATATGAGATCCTCTTGAAAGATAAGGTGTGTAATTAATATCTAAAAGGCTAAATCT
80338715	34362	NM_014251.2(SLC25A13):c.15G>A (p.Lys5=)	SLC25A13	Jan 05, 2012	MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598	Neonatal intrahepatic cholestasis caused by citrin deficiency	not provided	7	96321942	GCAACCGGGGCGAATCATGGCGGCCGCCAAGGTAACCGCGGGCCCGAGGCCGGGGGGAGCG
104894445	24329	NM_000161.2(GCH1):c.551G>A (p.Arg184His)	GCH1	Dec 30, 2014	MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:23447005	GTP cyclohydrolase I deficiency	germline;not applicable	14	54845843	AGCTCCTTATCACATCCACAGTTCAGGAGCGCCTTACAAAACAAATTGCTGTAGCAATCAC
886041995	264395	NM_078480.2(PUF60):c.485G>A (p.Trp162Ter)	PUF60	Sep 22, 2016	MedGen:CN517202	not provided	germline	8	143818398	TTGGCCCCATCAAGAGCATCGACATGTCCTGGGACTCCGTCACCATGAAGCACAAGGTCAG
72554308	26053	NM_000531.5(OTC):c.119G>A (p.Arg40His)	OTC	Oct 25, 2016	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38367332	CACTACAAAATAAAGTGCAGCTGAAGGGCCGTGACCTTCTCACTCTAAAAAACTTTACCGG
587777184	106808	NM_001166111.1(PNPLA6):c.787G>A (p.Val263Ile)	PNPLA6	Jul 25, 2014	MedGen:C2677586,OMIM:612020,Orphanet:ORPHA139480	Spastic paraplegia 39	germline	19	7540675	GTGGTGAAGGAAGTGGTTCCTGGGGACAGCGTCAACAGCCTTCTCAGCATCCTGGATGTCA
142724470	65572	NM_052961.3(SLC26A8):c.2434G>A (p.Glu812Lys)	SLC26A8	May 02, 2013	Gene:338331,MedGen:C1847540,OMIM:606766	Spermatogenic failure 3	germline	6	35951201	GGCTCCTCTGAGTTAAGCATCGATGAATCCGAGACAGTGATACGGGAAACCTACTCAGAAA
28937595	20996	NM_006996.2(SLC19A2):c.515G>A (p.Gly172Asp)	SLC19A2	Aug 23, 2015	MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED CT:237617006;MedGen:CN517202	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness;not provided	germline	1	169477447	GAAGTGCCACTTTGGTGGGCTTTACAGTGGGCTCTGTCCTAGGGCAAATCCTTGTCTCAGT
397516308	52406	NM_000260.3(MYO7A):c.4293G>A (p.Trp1431Ter)	MYO7A	Dec 01, 2015	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77194494	GATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAG
530612385	258690	NM_000218.2(KCNQ1):c.564G>A (p.Trp188Ter)	KCNQ1	Mar 23, 2015	MedGen:CN230736	Cardiovascular phenotype	germline	11	2570714	CGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATT
886042883	269985	NM_004369.3(COL6A3):c.6354+1G>A	COL6A3	Dec 12, 2017	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090;MedGen:CN517202	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided	germline	2	237359205	ATTGGACTGGATGGTCTGGATGGTGAAGATGTAAGTGATTTTACTCTAAGTCCAAACTGCT
104894582	23964	NM_000891.2(KCNJ2):c.904G>A (p.Val302Met)	KCNJ2	Aug 01, 2002	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000	Andersen Tawil syndrome;Congenital long QT syndrome	germline	17	70175943	TTTGAAATCGTGGTCATACTGGAAGGCATGGTGGAAGCCACTGCCATGACGACACAGTGCC
121918677	27655	NM_001063.3(TF):c.2012G>A (p.Gly671Glu)	TF	May 01, 1984	na	Transferrin variant b2	germline	3	133777188	ATGACAGAAACACATATGAAAAATACTTAGGAGAAGAATATGTCAAGGCTGTTGGTAACCT
796053229	247729	NM_014191.3(SCN8A):c.5615G>A (p.Arg1872Gln)	SCN8A	Jul 27, 2017	MedGen:C3281191,OMIM:614558;MedGen:CN517202	Early infantile epileptic encephalopathy 13;not provided	germline	12	51807101	TGGACATCCTGCGGCAGCAGATGGAAGAGCGGTTCGTGGCATCCAATCCTTCCAAAGTGTC
1064793798	409744	NM_016373.3(WWOX):c.1115G>A (p.Gly372Glu)	WWOX	Jun 23, 2015	MedGen:CN517202	not provided	germline	16	79211666	GTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTG
886041839	265078	NM_000444.5(PHEX):c.1587-1G>A	PHEX	Jan 25, 2017	MedGen:CN517202	not provided	germline	X	22190443	TGCTCTCTGGCATTTGTTTCTTTTTCTACAGGTGGTTTACAAATCCGACGACTGTCAATGC
398122711	97208	NM_000059.3(BRCA2):c.8633-1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32376669	TAGTGAATTAATAATCCTTTTGTTTTCTTAGAAAACACAACAAAACCATATTTACCATCAC
1057520755	371403	NM_000280.4(PAX6):c.486G>A (p.Trp162Ter)	PAX6	May 27, 2015	MedGen:CN517202	not provided	germline	11	31800728	GACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCT
1057519611	38683	NM_000834.4(GRIN2B):c.411+1G>A	GRIN2B	Nov 01, 2010	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	germline	12	13865797	GGGGGCTCCTCTATGATAATGGCAGATAAGGTAAAAAGGGGCTGCAGGGAGAAGGGCCTGA
781404312	186796	NM_000051.3(ATM):c.3G>A (p.Met1Ile)	ATM	Aug 24, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108227627	AGTGATGTGTGTTCTGAAATTGTGAACCATGAGTCTAGTACTTAATGATCTGCTTATCTGC
121908037	18773	NM_000527.4(LDLR):c.2531G>A (p.Gly844Asp)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11129654	ATGAGGTCCACATTTGCCACAACCAGGACGGCTACAGCTACCCCTCGGTGAGTGACCCTCT
81002820	66728	NM_000059.3(BRCA2):c.632-1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32329442	TATACAATACACATAAATTTTTATCTTACAGTCAGAAATGAAGAAGCATCTGAAACTGTAT
120074188	18171	NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr)	KCNQ1	Apr 06, 2012	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C4017089;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 1, recessive;not provided	germline	11	2768902	AAGGTCATTCGACGCATGCAGTACTTTGTGGCCAAGAAGAAATTCCAGGTAAGCCCTGTGC
121908135	19460	NM_031475.2(ESPN):c.2230G>A (p.Asp744Asn)	ESPN	Feb 01, 2006	MedGen:CN068820	Deafness, without vestibular involvement, autosomal dominant	germline	1	6452001	CTGGACGTGGAGGCTCTCATCCCCACGCACGATGAGCAGGGCCGGCCCATCCCCGAGTGGA
760576804	193556	NM_004572.3(PKP2):c.368G>A (p.Trp123Ter)	PKP2	Mar 02, 2017	MedGen:C1836906,OMIM:609040;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided	germline	12	32878512	CTGGCACAACTGCCACTTATGAAGGTCGCTGGGGAAGAGGAACAGCACAGTACAGCTCCCA
886039517	259669	NM_006516.2(SLC2A1):c.635G>A (p.Arg212His)	SLC2A1	Apr 06, 2016	MedGen:CN517202	not provided	germline	1	42929917	TCGTGCTGCCCTTCTGCCCCGAGAGTCCCCGCTTCCTGCTCATCAACCGCAACGAGGAGAA
398122368	94452	NM_003073.4(SMARCB1):c.110G>A (p.Arg37His)	SMARCB1	Sep 07, 2016	MedGen:C3553248,OMIM:614608;MedGen:CN517202	Mental retardation, autosomal dominant 15;not provided	germline	22	23791772	TGCTTTACTCATAGGTGGGAAACTACCTCCGTATGTTCCGAGGTTCTCTGTACAAGAGATA
886041370	265041	NM_000199.3(SGSH):c.629G>A (p.Trp210Ter)	SGSH	Sep 01, 2016	MedGen:CN517202	not provided	germline	17	80214206	GAGAGAGCGGCATGGGTCGTATCCCAGACTGGACCCCCCAGGCCTACGACCCACTGGACGT
1131692200	424309	NM_000527.4(LDLR):c.805G>A (p.Gly269Ser)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11106675	TATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTG
121434249	18383	NM_000348.3(SRD5A2):c.682G>A (p.Ala228Thr)	SRD5A2	Sep 08, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31529323	TTTTTCTCACTTTGTTTCCTTGGGCTGCGAGCTTTTCACCACCATAGGTAAATTTTTCAAT
398123607	99627	NM_001360.2(DHCR7):c.841G>A (p.Val281Met)	DHCR7	Jun 02, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71437934	GCGGCTGCTTCTGTCTTGCAGGCCATCTACGTGATTGACTTCTTCTGGAACGAAACCTGGT
121908714	16995	NM_000022.3(ADA):c.302G>A (p.Arg101Gln)	ADA	Aug 01, 1985	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44626516	CCAAAGAGGGCGTGGTGTATGTGGAGGTGCGGTACAGTCCGCACCTGCTGGCCAACTCCAA
180177484	103873	NM_001243133.1(NLRP3):c.910G>A (p.Glu304Lys)	NLRP3	Apr 27, 2017	MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000;MedGen:CN517202	Familial cold urticaria;not provided	germline	1	247424359	AGAATCCTCTTCCTCATGGACGGCTTCGATGAGCTGCAAGGTGCCTTTGACGAGCACATAG
72559716	186812	NM_000352.4(ABCC8):c.4411G>A (p.Asp1471Asn)	ABCC8	Feb 17, 2016	MedGen:C3888018,Orphanet:ORPHA276525;MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Familial hyperinsulinism;Persistent hyperinsulinemic hypoglycemia of infancy	germline;unknown	11	17395172	CTGGTGGTGAAGGCACTGCCAGGAGGCCTCGGTAACTACTCCTGGCTATGCAGCTGGGTTG
267607735	95622	NM_000249.3(MLH1):c.306+5G>A	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Lynch syndrome;Lynch syndrome II;not provided	germline;unknown	3	37001058	TTTCTACCTATGGCTTTCGAGGTGAGGTAAGCTAAAGATTCAAGAAATGTGTAAAATATCC
281875187	38965	NM_003070.4(SMARCA2):c.3476G>A (p.Arg1159Gln)	SMARCA2	Feb 26, 2012	MedGen:C1303073,OMIM:601358,Orphanet:ORPHA3051,SNOMED CT:401046009;MedGen:CN517202	Nicolaides-Baraitser syndrome;not provided	germline	9	2115841	CCCCCAAACAGGATCTGCAGGCCCAAGACCGAGCTCACCGCATCGGGCAGCAGAACGAGGT
387907347	51195	NM_001130004.1(ACTN1):c.2255G>A (p.Arg752Gln)	ACTN1	Mar 07, 2013	MedGen:C3554663,OMIM:615193	Platelet-type bleeding disorder 15	germline	14	68879987	GCATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGGGTGAG
122467170	26449	NM_014009.3(FOXP3):c.1150G>A (p.Ala384Thr)	FOXP3	Jan 01, 2001	MedGen:C0342288,OMIM:304790,Orphanet:ORPHA37042,SNOMED CT:237618001	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	germline	X	49251480	CTGCTCCCTGTCCCCGGCCTTCCACAGAACGCCATCCGCCACAACCTGAGTCTGCACAAGT
587776717	24491	NM_004525.2(LRP2):c.2640-1G>A	LRP2	Jun 28, 2011	MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143	Donnai Barrow syndrome	germline	2	169256237	TAAGAGATAACTAAATATTTTATTATTTTAGTGCTTCACGATTGTACTGGGTAGATGCCTA
587779460	106897	NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999376	GAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCA
387906628	38663	NM_004960.3(FUS):c.616G>A (p.Gly206Ser)	FUS	Aug 31, 2010	MedGen:C1842675,OMIM:608030	Amyotrophic lateral sclerosis type 6	germline	16	31185031	AATCAAGACCAGAGTGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACCGTGGAGGCC
80358008	131263	NM_007294.3(BRCA1):c.4676-1G>A	BRCA1	Mar 30, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43071239	GTGTAAATTAAACTTCTCCCATTCCTTTCAGAGGGAACCCCTTACCTGGAATCTGGAATCA
1057519733	362861	NM_002755.3(MAP2K1):c.607G>A (p.Glu203Lys)	MAP2K1	Oct 02, 2014	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	15	66481793	CCCTCCAACATCCTAGTCAACTCCCGTGGGGAGATCAAGCTCTGTGACTTTGGGGTCAGCG
-1	481114	NM_000096.3(CP):c.1208+1G>A	CP	Jan 01, 2009	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	germline	3	149206167	CACTAAAGAAAACTTAACAGCACCTGGAAGGTAATTTACAAAAAAAGAGTACTATTTCAAA
28935174	26531	NM_006579.2(EBP):c.440G>A (p.Arg147His)	EBP	Feb 08, 2013	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48527256	TGATCGCCTTTCTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGGG
746368198	264511	NM_000017.3(ACADS):c.820G>A (p.Gly274Ser)	ACADS	Sep 30, 2016	MedGen:CN517202	not provided	germline	12	120738557	CCACAGCAAACCCTGGACATGGGCCGCATCGGCATCGCCTCCCAGGCCCTGGGCATTGCCC
397518470	94309	NM_000833.4(GRIN2A):c.1553G>A (p.Arg518His)	GRIN2A	Jun 30, 2017	MedGen:C1832814,OMIM:245570;MedGen:CN517202	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided	germline	16	9840745	CAGTTGGCTCGCTCACCATCAATGAGGAACGTTCTGAAGTGGTGGACTTCTCTGTGCCCTT
80358173	131342	NM_007294.3(BRCA1):c.5194-1G>A	BRCA1	May 29, 2002	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43057136	ATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTC
786204123	186291	NM_000166.5(GJB1):c.425G>A (p.Arg142Gln)	GJB1	Dec 28, 2016	MedGen:CN118851	Charcot-Marie-Tooth Neuropathy X	germline	X	71224132	GGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGT
28934586	16210	NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His)	CYP11B1	Sep 01, 2005	MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007	Deficiency of steroid 11-beta-monooxygenase	germline	8	142875012	TCTACCACGTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTTGGGCGGCGCCTGGCAGAGGC
111033299	53902	NM_004004.5(GJB2):c.283G>A (p.Val95Met)	GJB2	May 18, 2017	MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383;MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:C2673759,OMIM:220290;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;MedGen:C1865234,OMIM:602540;MedGen:C1835678,OMIM:148210;MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202;MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED CT:1271009;MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED CT:24559001;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202;MedGen:CN169374	Deafness, X-linked 2;Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Hearing impairment;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Mutilating keratoderma;Nonsyndromic hearing loss and deafness;not provided;not specified	germline;unknown	13	20189299	TCCACGCCAGCGCTCCTAGTGGCCATGCACGTGGCCTACCGGAGACATGAGAAGAAGAGGA
387907001	39713	NM_133261.2(GIPC3):c.767G>A (p.Gly256Asp)	GIPC3	Dec 01, 2011	MedGen:C1866094,OMIM:601869	Deafness, autosomal recessive 15	germline	19	3589892	AGGTTGATGACCTGCTGGAAAGCTACATGGGCATTCGGGACCCCGAGCTGGGTAAGGGGCC
137852219	25742	NM_203473.2(PORCN):c.222G>A (p.Trp74Ter)	PORCN	Jul 01, 2007	MedGen:C0016395,OMIM:305600,Orphanet:ORPHA2092	Focal dermal hypoplasia	germline	X	48511380	CTACCACTTCTTCCAGCTGCACATGGTTTGGGTCGTGCTGCTCAGCCTCCTGTGCTACCTC
-1	487321	NM_000181.3(GUSB):c.1337G>A (p.Trp446Ter)	GUSB	Dec 22, 2016	MedGen:C0026709,OMIM:253200,Orphanet:ORPHA583	Mucopolysaccharidosis type VI	germline	7	65974349	GGGACAAGAACCACCCCGCGGTCGTGATGTGGTCTGTGGCCAACGAGCCTGCGTCCCACCT
28940578	17578	NM_000243.2(MEFV):c.2082G>A (p.Met694Ile)	MEFV	Jun 25, 2017	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:C1851347,OMIM:134610;MedGen:C1851347,OMIM:134610;MedGen:CN517202;MedGen:CN169374	Familial Mediterranean fever;Familial mediterranean fever, autosomal dominant;Familial mediterranean fever, autosomal dominant;not provided;not specified	germline;unknown	16	3243405	AGAGAATGGCTACTGGGTGGTGATAATGATGAAGGAAAATGAGTACCAGGCGTCCAGCGTT
121908204	79638	NM_000391.3(TPP1):c.380G>A (p.Arg127Gln)	TPP1	Jun 01, 2017	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349;MedGen:CN517202	Ceroid lipofuscinosis neuronal 2;not provided	germline	11	6617626	AGGACTTTCTGACTTGCTGGCTGAGCATCCGGTGAGAGGAAATGATTGCTCCATGGAGGGC
147914967	188223	NM_001288953.1(TTC7A):c.109G>A (p.Glu37Lys)	TTC7A	Dec 01, 2014	MedGen:C0220744,OMIM:243150,Orphanet:ORPHA436252,SNOMED CT:95472001	Multiple gastrointestinal atresias	germline	2	46950389	TCAGATGACTTTGGGAAATTGCTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAGA
587780833	139864	NM_032043.2(BRIP1):c.627+1G>A	BRIP1	Jun 03, 2016	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	17	61847100	GAAAAGATAAACTCCTTTTCGCCACAGAAAGTATGTATTAATGCCATTGTTCAGTTTTAAA
66619856	457708	NM_000089.3(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2	Mar 02, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94410278	CCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCCGTAAGTAGCTCTA
66490707	414007	NM_000088.3(COL1A1):c.1299+1G>A	COL1A1	Aug 11, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline;unknown	17	50195231	GGCGGCCCTCCTGGTCCCAAGGGTAACAGCGTGAGTACCAAACTCTCCCTTCTGCCCACCC
55940927	24168	NM_001491.2(GCNT2):c.1148G>A (p.Arg383His)	GCNT2	Dec 15, 2001	MedGen:C3805373,OMIM:116700	Cataract 13 with adult i phenotype	germline	6	10626552	TTACTGTGGAATGCCTAGAACTGAGGCATCGCGAAAGAACCCTCAATCAGAGTGAAACTGC
104894396	32041	NM_004004.5(GJB2):c.71G>A (p.Trp24Ter)	GJB2	May 30, 2017	MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383;MedGen:C2675750,OMIM:601544;MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:C2673759,OMIM:220290;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;MedGen:C1865234,OMIM:602540;MedGen:C1835678,OMIM:148210;MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202;MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED CT:1271009;MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED CT:24559001;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, X-linked 2;Deafness, autosomal dominant 3a;Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Hearing impairment;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Mutilating keratoderma;Nonsyndromic hearing loss and deafness;not provided	germline;unknown	13	20189511	ACAAACACTCCACCAGCATTGGAAAGATCTGGCTCACCGTCCTCTTCATTTTTCGCATTAT
1131692253	424408	NM_003901.3(SGPL1):c.261+1G>A	SGPL1	Dec 18, 2017	MedGen:CN339707,OMIM:617575	NEPHROTIC SYNDROME 14	germline	10	70851211	ACCAGGAAGATGCCCATTATTGGTCGTAAGGTAAGTAGAATCTGTGTATGTCATTTTTTCC
118204066	16576	NM_000237.2(LPL):c.1227G>A (p.Trp409Ter)	LPL	Dec 01, 1991	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19960988	TGGAGAACTACTCATGTTGAAGCTCAAATGGAAGAGTGATTCATACTTTAGCTGGTCAGAC
121908215	23535	NM_001127221.1(CACNA1A):c.877G>A (p.Gly293Arg)	CACNA1A	Jun 28, 2005	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006;MedGen:C0752124,OMIM:183086,Orphanet:ORPHA98758	Episodic ataxia type 2;Spinocerebellar ataxia 6	germline	19	13359707	AATGGGACCAAATGTCAGCCCTACTGGGAAGGGCCCAACAACGGGATCACTCAGTTCGACA
121913528	27620	NM_033360.3(KRAS):c.175G>A (p.Ala59Thr)	KRAS	Jul 14, 2015	MedGen:C4016403;MeSH:D015179,MedGen:CN236642	Bladder cancer, transitional cell, somatic;Colorectal Neoplasms	somatic	12	25227349	GAAACCTGTCTCTTGGATATTCTCGACACAGCAGGTCAAGAGGAGTACAGTGCAATGAGGG
869025191	181513	NM_006912.5(RIT1):c.229G>A (p.Ala77Thr)	RIT1	Oct 27, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C3809233,OMIM:615355;MedGen:CN517202	Noonan syndrome;Noonan syndrome 8;not provided	de novo;germline;unknown	1	155904739	GAGCCTGCCAATCTGGACATTTTGGATACAGCTGGACAGGTATTAAATCCCAGAATGTTAT
886037831	227489	NM_000523.3(HOXD13):c.781+1G>A	HOXD13	Aug 12, 2016	MedGen:C2699746,OMIM:186000,Orphanet:ORPHA93403	Synpolydactyly 1	germline	2	176093672	GGTCCCACTTTTGGAAATCTTCCTTTCCAGGTAGGGGCGATGGAGAAAAGGGACCGACACG
180177366	71322	NM_017890.4(VPS13B):c.6732+1G>A	VPS13B	Jul 27, 2017	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline	8	99717374	TCCATTGACTTAAGAGGAGGTCTACTACAGGTCTGTGGGTATTGGCCATATTTTTTTCATA
869312894	226684	NM_139276.2(STAT3):c.2107G>A (p.Ala703Thr)	STAT3	Sep 15, 2016	MedGen:C4014795,OMIM:615952,Orphanet:ORPHA438159	Autoimmune disease, multisystem, infantile-onset, 1	germline;inherited	17	42317219	AGAAAACTGGTTTTCTTCTTCCCAGGCGCTGCCCCATACCTGAAGACCAAGTTTATCTGTG
121918146	15701	NM_000312.3(PROC):c.925G>A (p.Ala309Thr)	PROC	Mar 21, 1992	MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127428485	GACATCGCACTGCTGCACCTGGCCCAGCCCGCCACCCTCTCGCAGACCATAGTGCCCATCT
786204984	187589	NM_003159.2(CDKL5):c.403+1G>A	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095	Atypical Rett syndrome	de novo	X	18579969	GGTGCCATAAGAATGATATTGTCCATCGAGGTGAGTATGAGATTTTTAAAATGGAAAATAT
1064797086	411536	NM_001271012.1(FLI1):c.431G>A (p.Arg144Gln)	FLI1	Apr 25, 2017	MedGen:CN242283,OMIM:617443	Bleeding disorder, platelet-type, 21	germline	11	128810639	AGCCCAACATGAATTACGACAAGCTGAGCCGGGCCCTCCGTTATTACTATGATAAAAACAT
753288303	216044	NM_000255.3(MUT):c.1280G>A (p.Gly427Asp)	MUT	Feb 09, 2017	Human Phenotype Ontology:HP:0002912,MedGen:C0268583,SNOMED CT:42393006;MedGen:C1855114,OMIM:251000	Methylmalonic acidemia;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49451518	GGATTCCCAAAGTGGCTGATCCTTGGGGAGGTTCTTACATGATGGAATGTCTCACAAATGA
45507199	59122	NM_000548.4(TSC2):c.5228G>A (p.Arg1743Gln)	TSC2	May 11, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2088294	CCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCG
199472712	67758	NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn)	KCNQ1	Aug 04, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline;inherited	11	2572053	TTCCTGCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGG
104894073	24069	NM_002052.4(GATA4):c.886G>A (p.Gly296Ser)	GATA4	Jul 24, 2003	MedGen:C1842778,OMIM:607941	Atrial septal defect 2	germline	8	11750213	GCGGAGGGCGAGCCTGTGTGCAATGCCTGCGGCCTCTACATGAAGCTCCACGGGGTACGTG
786202112	184694	NM_001042492.2(NF1):c.5609G>A (p.Arg1870Gln)	NF1	Jun 29, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided	germline	17	31327839	TTAATTTAGGCAGTTCTGACCCGAGTTTACGGTAGGTTTTTTAAAATTCTCTTCAGTTTGA
398123015	49929	NM_020944.2(GBA2):c.2618G>A (p.Arg873His)	GBA2	Mar 07, 2017	MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006;MedGen:C2828721,OMIM:614409,Orphanet:ORPHA320391	Hereditary spastic paraplegia;Spastic paraplegia 46, autosomal recessive	germline;inherited	9	35737335	CAGAGGCATACTGCCAGCAGCGAGTGTTCCGCTCACTGGCCTACATGCGGCCACTGAGCAT
121912878	32410	NM_001844.4(COL2A1):c.2905G>A (p.Gly969Ser)	COL2A1	Jan 27, 1995	MedGen:C0220685,OMIM:200610,Orphanet:ORPHA93296	Achondrogenesis, type II	germline	12	47978389	CTCCTGCCTCTCCTCTCTCAGGGTGCCGAAGGTCCACCAGGTCCCCAGGGTCTGGCTGGTC
80356510	34131	NM_001457.3(FLNB):c.1088G>A (p.Gly363Glu)	FLNB	Oct 09, 2008	MedGen:C1835564,OMIM:150250	Larsen syndrome, dominant type	not provided	3	58097918	ATGCCAGTAAAGTCACTGCAAAAGGTCCAGGGTTGGAAGCTGTAGGGAACATCGCCAATAA
104894821	25480	NM_000166.5(GJB1):c.283G>A (p.Val95Met)	GJB1	Jul 05, 2017	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71223990	TCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAA
67294955	103147	NM_000531.5(OTC):c.583G>A (p.Gly195Arg)	OTC	Jul 16, 2014	MedGen:CN517202	not provided	germline;unknown	X	38403660	TCTCTGAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACTCCATCA
398122833	227463	NM_000138.4(FBN1):c.8226+1G>A	FBN1	Apr 28, 2016	MedGen:C4310796,OMIM:616914,Orphanet:ORPHA300382	Marfan lipodystrophy syndrome	germline	15	48412568	ACAAACGAAACTGATGCCTCCAATATCGAGGTGGGTCAGAAGTTAGTTTCTCCTGATGTCT
104894438	24313	NM_000161.2(GCH1):c.602G>A (p.Gly201Glu)	GCH1	Oct 01, 2000	MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255	Dystonia 5, Dopa-responsive type	germline	14	54845792	TAGCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAACGTAAGT
63750158	432846	NM_000517.4(HBA2):c.95+1G>A	HBA2	Jul 13, 2017	MedGen:CN517202	not provided	germline	16	173008	TGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGC
864321716	217280	NM_006086.3(TUBB3):c.785G>A (p.Arg262His)	TUBB3	Sep 11, 2017	MedGen:C2748801,OMIM:600638;MedGen:CN517202	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;not provided	germline	16	89935236	AGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCC
730880691	179301	NM_000256.3(MYBPC3):c.1624+5G>A	MYBPC3	Aug 08, 2011	MedGen:CN517202	not provided	germline	11	47342573	GGCGCTGGCTGAGCTCATTGTGCAGGGTGAGCCTGGCTGGGGGGGCACATGAGGCTTTAGG
1057520545	365285	NM_006516.2(SLC2A1):c.493G>A (p.Val165Ile)	SLC2A1	Mar 11, 2015	MedGen:CN517202	not provided	germline	1	42930649	GCCCTGGGCACCCTGCACCAGCTGGGCATCGTCGTCGGCATCCTCATCGCCCAGGTAAGCT
1064794569	411313	NM_004006.2(DMD):c.8390+1G>A	DMD	Mar 23, 2017	MedGen:CN517202	not provided	germline	X	31507280	TGAACTTCGGAAAAAGTCTCTCAACATTAGGTAGGAAAAGATGTGGAGCAAAAAGGCCACA
104886305	36123	NM_000495.4(COL4A5):c.4976G>A (p.Ser1659Asn)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108695439	TGGCAACTGTAGATGTGTCAGACATGTTCAGGTAAAGTGCTTATAGCTTTAATTCAGGTCC
267607842	95277	NM_000249.3(MLH1):c.1614G>A (p.Trp538Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37040241	CTCCTTCGTGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATAC
397514758	75602	NM_005689.3(ABCB6):c.1736G>A (p.Gly579Glu)	ABCB6	Sep 01, 2013	MedGen:C3809394,OMIM:615402	Dyschromatosis universalis hereditaria 3	germline	2	219213310	TGGTGCCCTTCCAGGTGAAGGACCTTCCTGGAGCAGGGCCCCTTCGCTTTCAGAAGGGCCG
104886215	35937	NM_000495.4(COL4A5):c.3134G>A (p.Gly1045Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108626237	CAGGGCCTCAGGGTGTGGAAGGGCCTCCTGGACCTTCTGGAGTTCCTGGACAACCTGGCTC
121908963	21720	NM_001130978.1(DYSF):c.895G>A (p.Gly299Arg)	DYSF	Mar 01, 2008	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71517028	TCTCGTTCTCTCAGGACAGATGCTCTCCTCGGGGAGTTCCGGGTAATTGCTTATTTTCTAT
121908480	20820	NM_014270.4(SLC7A9):c.313G>A (p.Gly105Arg)	SLC7A9	Jul 14, 2017	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001;MedGen:CN517202	Cystinuria;not provided	germline	19	32864261	GGAGAGTATCCCTACCTGATGGAGGCCTACGGGCCCATCCCCGCCTACCTCTTCTCCTGGG
879254985	246273	NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116193	CTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCA
118203968	16076	NM_138387.3(G6PC3):c.758G>A (p.Arg253His)	G6PC3	Jan 18, 2015	MedGen:C2675526,OMIM:612541,Orphanet:ORPHA331176	Severe congenital neutropenia 4, autosomal recessive	germline	17	44075760	TGGATAGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTGGGCAT
398122887	45780	NM_152296.4(ATP1A3):c.2839G>A (p.Gly947Arg)	ATP1A3	Oct 12, 2016	MedGen:C3553788,OMIM:614820;MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517;Human Phenotype Ontology:HP:0002301,MedGen:C0018991;MedGen:C0014544,Orphanet:ORPHA166463;MedGen:CN517202	Alternating hemiplegia of childhood 2;Dystonia 12;Hemiplegia;Seizure Disorders;not provided	de novo;germline;unknown	19	41967744	TGTGCCTCCAGGAACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCT
121908748	22207	NM_000492.3(CFTR):c.1766+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117590440	TGTTTTAACAGAAAAAGAAATATTTGAAAGGTATGTTCTTTGAATACCTTACTTATAATGC
1057521068	368950	NM_001024630.3(RUNX2):c.569G>A (p.Arg190Gln)	RUNX2	Jan 09, 2017	MedGen:CN517202	not provided	germline	6	45432008	CAAGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACTTTTGA
886041819	264288	NM_020732.3(ARID1B):c.5811G>A (p.Trp1937Ter)	ARID1B	Jun 02, 2016	MedGen:CN517202	not provided	germline	6	157206952	CGAGACTCCTCTGTGTACCATCGCGCACTGGCAGGACTCGCTGGCTAAGCGATGCATCTGT
148059333	358057	NM_001876.3(CPT1A):c.1163+1G>A	CPT1A	Mar 25, 2017	MedGen:C1829703,Orphanet:ORPHA156;MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyl transferase 1 deficiency;Carnitine palmitoyltransferase I deficiency	germline;unknown	11	68784814	CAGGCTGGCAGCCCTCACCGCAGGAGACAGGTGCGCAGCCTAGGTCCCTTGTCCTGTTTTG
376107921	213634	NM_000070.2(CAPN3):c.1319G>A (p.Arg440Gln)	CAPN3	May 08, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;Limb-girdle muscular dystrophy, type 2A;not provided	germline;unknown	15	42399617	CAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTT
151344523	20512	NM_006796.2(AFG3L2):c.2105G>A (p.Arg702Gln)	AFG3L2	Sep 30, 2016	MedGen:C1853249,OMIM:610246,Orphanet:ORPHA101109;MedGen:CN517202	Spinocerebellar ataxia 28;not provided	germline	18	12337411	CCACTGCAAGATTGATAGATGATGAAGTACGAATACTTATTAATGATGCTTATAAAAGAAC
-1	468302	NM_002734.4(PRKAR1A):c.502+1G>A	PRKAR1A	May 15, 2017	MedGen:C2607929,OMIM:160980	Carney complex, type 1	germline	17	68524078	TTATCGCAGGAGAGACTGTGATTCAGCAAGGTAAGGGCCTCTGGAGCATGCAATATTGTTA
121912887	32426	NM_001844.4(COL2A1):c.3914G>A (p.Gly1305Asp)	COL2A1	Sep 01, 2002	MedGen:C1852989	Vitreoretinopathy with phalangeal epiphyseal dysplasia	germline	12	47974835	CAGGAGACTACTGGATTGACCCCAACCAAGGCTGCACCTTGGACGCCATGAAGGTTTTCTG
794726828	187788	NM_001165963.1(SCN1A):c.2929G>A (p.Val977Met)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	inherited	2	166037793	ATGTGCCTTACTGTCTTCATGATGGTCATGGTGATTGGAAACCTAGTGGTATGTACCCACT
76434661	53916	NM_004004.5(GJB2):c.416G>A (p.Ser139Asn)	GJB2	Aug 28, 2017	MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383;MedGen:C2675750,OMIM:601544;MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:C2673759,OMIM:220290;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;MedGen:C1865234,OMIM:602540;MedGen:C1835678,OMIM:148210;MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202;MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED CT:1271009;MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED CT:24559001;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202;MedGen:CN169374	Deafness, X-linked 2;Deafness, autosomal dominant 3a;Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Hearing impairment;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Mutilating keratoderma;Nonsyndromic hearing loss and deafness;not provided;not specified	germline;unknown	13	20189166	AAGGCTCCCTGTGGTGGACCTACACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGC
1085307188	414117	NM_001204.6(BMPR2):c.247+1G>A	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464980	CAAAAGGGGACATAAATCTTGTAAAACAAGGCAAGTGATACTTTCCTTACCTGAAATGACT
863223542	209948	NM_000118.3(ENG):c.1428+1G>A	ENG	Aug 10, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN517202	Osler hemorrhagic telangiectasia syndrome;not provided	germline	9	127818715	ATCGAGCCGGGGCAGCAGAGCTTTGTGCAGGTACCTGGCATGCCTGTCACCCCTCGGGCCT
770984846	214853	NM_016218.3(POLK):c.1284G>A (p.Ala428=)	POLK	Jan 01, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75590368	TTCTAGGACATTCAGTGAGATAAATAAAGCGGAAGAGCAATACAGCCTATGTCAAGAACTT
730881702	181096	NM_007194.3(CHEK2):c.1356G>A (p.Trp452Ter)	CHEK2	Jul 24, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:CN517202	Familial cancer of breast;not provided	germline	22	28695146	TGGAAAATACAACTTCATTCCTGAAGTCTGGGCAGAAGTCTCAGAGAAAGGTATGAATATG
587781288	150515	NM_000546.5(TP53):c.422G>A (p.Cys141Tyr)	TP53	Jun 10, 2017	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MeSH:D015179,MedGen:CN236642;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of prostate;Colorectal Neoplasms;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck	germline;somatic	17	7675190	ACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTGTGCAGCTGTGGGTTGATTCCACACC
886039072	482072	NM_000138.4(FBN1):c.3G>A (p.Met1Ile)	FBN1	Dec 13, 2016	MedGen:CN517202	not provided	germline	15	48644767	CGGCGGGAGCCGGTGGCGGCTCGGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTG
727504255	172365	NM_001001430.2(TNNT2):c.244G>A (p.Gly82Arg)	TNNT2	Mar 30, 2016	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	1	201365630	CCCAACTTGGTGCCTCCCAAGATCCCCGATGGAGAGAGAGTGGACTTTGATGTAAGCGGTG
879254011	244195	NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln)	MFN2	Oct 26, 2016	MedGen:CN043576;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;not provided	germline	1	12002034	TGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACT
62642057	24938	NM_000328.2(RPGR):c.823G>A (p.Gly275Ser)	RPGR	Jun 01, 2007	MedGen:C1848295,OMIM:300029;MedGen:CN517202	Retinitis pigmentosa 15;not provided	germline	X	38304746	ACCTTTGGGCTGGGACAATTTGGTCAGCTGGGTCTTGGCACTTTTCTTTTTGAAACTTCAG
267606671	20190	NM_020632.2(ATP6V0A4):c.2458G>A (p.Gly820Arg)	ATP6V0A4	Sep 01, 2000	MedGen:C1864498,OMIM:602722,Orphanet:ORPHA402041	Renal tubular acidosis, distal, autosomal recessive	germline	7	138706689	AGGGTTGAGTTCCAGAACAAGTTCTATGTCGGGGATGGTTACAAGTTTTCTCCATTCTCCT
786204762	186765	NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300;MedGen:CN517202	Achromatopsia 3;not provided	germline;unknown	8	86643810	TCTGCACATTAATGCCTGTGTTTATTACTGGGCTTCAAACTATGAAGGAATTGGCACTACT
199473653	78465	NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln)	KCNJ2	Jul 05, 2017	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000	Andersen Tawil syndrome;Congenital long QT syndrome	germline;unknown	17	70175284	TCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTT
118192163	28013	NM_000540.2(RYR1):c.6488G>A (p.Arg2163His)	RYR1	Nov 09, 2015	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN031421,OMIM:145600;MedGen:CN517202	Central core disease;Malignant hyperthermia, susceptibility to, 1;not provided	germline;unknown	19	38494565	TGAGCCTGCTCGAGTGCCTCGGCCAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCA
587779674	107178	NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004293	CCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCA
121913502	29755	NM_002168.3(IDH2):c.419G>A (p.Arg140Gln)	IDH2	Feb 16, 2018	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MeSH:D015179,MedGen:CN236642;MedGen:C3150909,OMIM:613657;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MedGen:CN517202	Acute myeloid leukemia;Colorectal Neoplasms;D-2-hydroxyglutaric aciduria 2;Multiple myeloma;Myelodysplastic syndrome;Squamous cell carcinoma of the head and neck;not provided	germline;somatic;unknown	15	90088702	AGATGTGGAAAAGTCCCAATGGAACTATCCGGAACATCCTGGGGGGGACTGTCTTCCGGGA
72549387	22776	NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter)	CYP1B1	Apr 19, 2017	MedGen:C4310623,OMIM:617315;Human Phenotype Ontology:HP:0000557,MedGen:C0020302,OMIM:231300,Orphanet:ORPHA98976;MedGen:CN239260;Human Phenotype Ontology:HP:0000659,MedGen:C0344559,OMIM:604229,SNOMED CT:204153003;MedGen:CN517202	Anterior segment dysgenesis 6;Buphthalmos;CYP1B1-Related Disorders;Irido-corneo-trabecular dysgenesis;not provided	germline;paternal	2	38075218	CCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGC
116928232	199794	NM_000235.3(LIPA):c.894G>A (p.Gln298=)	LIPA	Sep 06, 2016	MedGen:C0043208,OMIM:278000,Orphanet:ORPHA275761;MedGen:CN517202	Lysosomal acid lipase deficiency;not provided	germline;unknown	10	89222511	TTCTGTGCAAAACATGTTACACTGGAGCCAGGTAGGCATTCCAGGAGTGCATTTGGGGTTC
62638193	23044	NM_002905.3(RDH5):c.839G>A (p.Arg280His)	RDH5	Nov 01, 2000	MedGen:C4016746	Fundus albipunctatus, autosomal recessive	germline	12	55724427	ATGCCCTGACTGCTCGACACCCCCGAACCCGCTACAGCCCAGGTTGGGATGCCAAGCTGCT
483352886	136639	NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln)	NPC1	Jan 29, 2016	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline;unknown	18	23554758	ATTACCACACGCACTTTCTGTACTGCGTACGGTAAGTGGCAAGAGACAATCATTGGTAGAC
28937909	19062	NM_000152.4(GAA):c.1927G>A (p.Gly643Arg)	GAA	Sep 09, 2016	MedGen:CN568813;MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease II, adult form;Glycogen storage disease, type II	germline;unknown	17	80112914	CAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACA
-1	426111	NM_000138.4(FBN1):c.3091G>A (p.Glu1031Lys)	FBN1	May 25, 2017	MedGen:CN517202	not provided	germline	15	48488485	CCACATTTTCTTATTCTTGAAGATATCAATGAGTGCAAGATGATACCCAGCCTCTGCACCC
111033808	46843	NM_000155.3(GALT):c.998G>A (p.Arg333Gln)	GALT	Jan 21, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	unknown	9	34649503	ACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGC
587778871	132301	NM_000321.2(RB1):c.1960+5G>A	RB1	Jan 16, 2018	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790;MedGen:CN517202	Retinoblastoma;not provided	germline;somatic	13	48456354	CTCTCTTTCACTGTTTTATAAAAAAGGTTAGTAGATGATTATTTTCAAGAGCATGGACTCT
748275416	469404	NM_000159.3(GCDH):c.1064G>A (p.Arg355His)	GCDH	Jul 28, 2017	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline	19	12897410	TGGGCCTTCACGCCTGCCTGCAGCTCGGCCGCTTGAAGGACCAGGACAAGTAGGGGCTGTG
121912983	31905	NM_000031.5(ALAD):c.820G>A (p.Ala274Thr)	ALAD	May 01, 1992	MedGen:C0268328,OMIM:612740,Orphanet:ORPHA95157,SNOMED CT:64081000	Porphobilinogen synthase deficiency	germline	9	113389088	GCTTCCCTGCAGCACCCTGACCTCCCTCTCGCCGTGTACCACGTCTCTGGAGAGTTTGCCA
80358146	69139	NM_007294.3(BRCA1):c.213-1G>A	BRCA1	Nov 01, 2015	MedGen:C2676676,OMIM:604370;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Breast-ovarian cancer, familial 1;Neoplasm of the breast	germline;somatic	17	43104957	TGAGTGTGTTTCTCAAACAATTTAATTTCAGGAGCCTACAAGAAAGTACGAGATTTAGTCA
137852615	24506	NM_000211.4(ITGB2):c.382G>A (p.Asp128Asn)	ITGB2	May 15, 1992	MedGen:C0272187	Leukocyte adhesion deficiency	germline	21	44903482	ACCTTCCGGCGGGCCAAGGGCTACCCCATCGACCTGTACTATCTGATGGACCTCTCCTACT
104893990	24338	NM_001024630.3(RUNX2):c.572G>A (p.Ser191Asn)	RUNX2	Jul 01, 1997	MedGen:C0008928,OMIM:119600,Orphanet:ORPHA1452,SNOMED CT:65976001	Cleidocranial dysostosis	germline	6	45432011	GGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACTTTTGATAC
1060501039	400674	NM_000138.4(FBN1):c.4061G>A (p.Trp1354Ter)	FBN1	Jul 14, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48474554	GAAGCTTCAAATGTAGCTGCAGTCCCGGGTGGATTGGAGATGGCATTAAGTGCACTGGTGA
28937289	25312	NM_000132.3(F8):c.5336G>A (p.Gly1779Glu)	F8	Dec 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154906457	GAGAACTAAATGAACATTTGGGACTCCTGGGGCCATATATAAGAGCAGAAGTTGAAGATAA
398124545	102396	NM_152419.2(HGSNAT):c.1464+1G>A	HGSNAT	Jun 18, 2013	MedGen:CN517202	not provided	germline	8	43193844	TCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTC
121908301	19349	NM_001005741.2(GBA):c.1549G>A (p.Gly517Ser)	GBA	Jun 15, 1993	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155235057	GTGCCTCTTACCATCAAGGATCCTGCTGTGGGCTTCCTGGAGACAATCTCACCTGGCTACT
781065280	439706	NM_005956.3(MTHFD1):c.727+1G>A	MTHFD1	Nov 21, 2017	MedGen:CN635903,OMIM:617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	germline	14	64419926	TCATCGACTGTGGAATCAATTATGTCCCAGGTGAGTGTTGTTGGAGGAGTAAGGTGGCTGC
761211705	264570	NM_000070.2(CAPN3):c.802-9G>A	CAPN3	Jun 14, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42389944	TCCCCTGTGTTGTTCCCTACATTCTCCATCGGGCCTCAGGATGGCACGAACATGACCTATG
63749817	199868	NM_002087.3(GRN):c.708+1G>A	GRN	Feb 28, 2017	Human Phenotype Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:230270009;MedGen:C1843792,OMIM:607485;MedGen:CN517202	Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not provided	germline	17	44350801	GGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGT
748014296	404689	NM_177965.3(C8orf37):c.555G>A (p.Trp185Ter)	C8orf37	Mar 28, 2017	MedGen:CN121949	Retinitis pigmentosa 64	germline	8	95247686	AACACGGGCATATGCCTGCCAGTGTAGCTGGAGAACTATTGAAGAAGTGACTGACCTTCAG
121907929	18522	NM_000280.4(PAX6):c.771G>A (p.Trp257Ter)	PAX6	Aug 01, 2007	MedGen:C0344542,OMIM:106210	Aniridia 1	germline	11	31793797	CTAACCTGTCCCACCTGATTTCCAGGTATGGTTTTCTAATCGAAGGGCCAAATGGAGAAGA
267607592	77750	NM_170707.3(LMNA):c.1608+1G>A	LMNA	Sep 10, 2014	Human Phenotype Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED CT:93153005;MedGen:CN517202	Limb-girdle muscular dystrophy;not provided	germline	1	156137233	CGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGG
104886244	35992	NM_000495.4(COL4A5):c.3586G>A (p.Gly1196Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108667165	CAACCAGGCTTTGGAAACCCAGGACCCCCTGGACTTCCAGGACTTTCTGGTAAACCTTAAT
121913294	362911	NM_000314.6(PTEN):c.518G>A (p.Arg173His)	PTEN	Apr 27, 2017	Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	Neoplasm of brain;PTEN hamartoma tumor syndrome;not provided	germline;maternal;paternal;somatic;unknown	10	87952143	ACCAGGGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAA
72544145	75312	NM_004588.4(SCN2B):c.83G>A (p.Arg28Gln)	SCN2B	Jun 01, 2009	MedGen:C3809312,OMIM:615378	Atrial fibrillation, familial, 14	germline	11	118168739	TTGTGGCTTCATCTGCAGTGCCACCAGGACGGAGCATGGAGGTCACAGTACCTGCCACCCT
863225080	214565	NM_006245.3(PPP2R5D):c.1258G>A (p.Glu420Lys)	PPP2R5D	Oct 17, 2015	MedGen:CN517202	not provided	germline	6	43009328	ACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGT
587783849	170006	NM_000252.2(MTM1):c.678+1G>A	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150641419	GCAACTTTTAGGTCCCGAAATCGAATTCCAGTGAGTACTGCAATTAACGTTTCTCTTGAAG
387907003	39718	NM_001134831.1(AHI1):c.1484G>A (p.Arg495His)	AHI1	Sep 21, 2011	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	germline	6	135448432	ATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCTATATTACCCACCTACTAAGCC
587779417	106847	NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003457	AAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGTAAGTATTGATCCTCTTAACTA
121912557	23616	NM_004999.3(MYO6):c.1325G>A (p.Cys442Tyr)	MYO6	Jul 09, 2004	MedGen:C1853441,OMIM:606346	Deafness, autosomal dominant 22	germline	6	75857198	TTGATCATGTGGTAAACAGAGTAAATCAGTGTTTTCCTTTTGAAACATCATCCTATTTTAT
397514582	48361	NM_172107.3(KCNQ2):c.869G>A (p.Gly290Asp)	KCNQ2	Jun 13, 2017	MedGen:C1852587,OMIM:121200;MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy 7;not provided	germline	20	63439656	ACGGGGACAAGTACCCCCAGACCTGGAACGGCAGGCTCCTTGCGGCAACCTTCACCCTCAT
121912517	29455	NM_000894.2(LHB):c.167G>A (p.Gly56Asp)	LHB	Jan 01, 2009	MedGen:C0271582,OMIM:228300,Orphanet:ORPHA325448,SNOMED CT:8829008	Isolated lutropin deficiency	germline	19	49016563	GCATCACCGTCAACACCACCATCTGTGCCGGCTACTGCCCCACCATGGTGAGCTGCCTGGG
1057517028	357507	NM_012434.4(SLC17A5):c.819+1G>A	SLC17A5	Jul 06, 2016	MedGen:C1096903,OMIM:604369,Orphanet:ORPHA309334,SNOMED CT:87074006;MedGen:CN517202	Salla disease;not provided	germline;unknown	6	73635381	GAATACATTCTTTCATCATTAAGAAATCAGGTATGGACTTTGACACATTTTAAAAATAATG
780855765	440158	NM_001080463.1(DYNC2H1):c.6545G>A (p.Cys2182Tyr)	DYNC2H1	Jun 01, 2017	MedGen:CN674505	Short-rib polydactyly syndrome type III	unknown	11	103184963	TGATGAATGGTTTGTCACATCTACATGGTTGCAGAGATCATGACGAATTCATTATTAATCT
28942083	18728	NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr)	LDLR	Sep 21, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11120382	CCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTG
551660089	374322	NM_173201.3(ATP2A1):c.1184+1G>A	ATP2A1	Jan 03, 2017	MedGen:CN517202	not provided	germline	16	28894244	CGGCTCCACTTACGCTCCAGAGGGAGAGGTGTAAGTCACCCAGGCATCTTCTCCCCAGCTC
121918464	28375	NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys)	PTPN11	May 31, 2016	Human Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114,Orphanet:ORPHA94,SNOMED CT:38713004;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;Human Phenotype Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MedGen:CN517202	Astrocytoma;Colorectal Neoplasms;Juvenile myelomonocytic leukemia;Multiple myeloma;Neuroblastoma;Noonan syndrome;Rasopathy;Squamous cell carcinoma of lung;not provided	germline;somatic;unknown	12	112450406	TATGGAGGGGAGAAATTTGCCACTTTGGCTGAGTTGGTCCAGTATTACATGGAACATCACG
72656370	259882	NM_000089.3(COL1A2):c.577G>A (p.Gly193Ser)	COL1A2	Feb 02, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:CN517202	Osteogenesis imperfecta type I;not provided	germline;maternal;paternal	7	94406286	AATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAAT
748704459	186790	NM_001128227.2(GNE):c.479G>A (p.Arg160Gln)	GNE	May 31, 2017	MedGen:C1833373,OMIM:600737	Inclusion body myopathy 2	germline;unknown	9	36246261	TGGCCACATCTGCTGCCTTGATGAACATCCGAATCCTTCACATTGAAGGTGGGGAAGTCAG
281874737	35611	NM_000495.4(COL4A5):c.431G>A (p.Gly144Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108571459	CAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCCTCCAGTAAGTTATAAAATTTGGGATTA
1085307614	415362	NM_001845.5(COL4A1):c.3760G>A (p.Gly1254Arg)	COL4A1	Apr 18, 2017	MedGen:CN517202	not provided	germline	13	110169745	TCTCTTCCATTAGGACTTCCGGGACCCATGGGGCCTCCAGGGCTTCCTGGGATTGATGGAG
786205745	188541	NM_001167625.1(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Jul 16, 2015	MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283;MedGen:CN517202	Timothy syndrome;not provided	germline	12	2504538	GTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCTATGTCCTCTCCA
181134220	27020	NM_000481.3(AMT):c.878-1G>A	AMT	Jul 11, 2013	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49417974	TGTGGCTTATGTCTCATGTGTCATTCTCCAGGGAAGCGCCGCCGAGCTGCTATGGACTTCC
387907570	70787	NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp)	MEFV	May 26, 2015	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:CN517202	Familial Mediterranean fever;not provided	germline;somatic	16	3243427	AAGGGAACATGACTCTGTCGCCAGAGAATGGCTACTGGGTGGTGATAATGATGAAGGAAAA
104893779	28062	NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	RHO	Sep 01, 1991	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129532288	CCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACA
886037755	213939	NM_003990.4(PAX2):c.187G>A (p.Gly63Ser)	PAX2	Oct 19, 2015	MedGen:CN517202	not provided	somatic	10	100749889	GACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAG
121908471	20841	NM_139025.4(ADAMTS13):c.1193G>A (p.Arg398His)	ADAMTS13	Oct 04, 2001	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133433478	CTAGCTGGGGTCCCCGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGGTCACCAGGAG
104886116	35749	NM_000495.4(COL4A5):c.1414G>A (p.Gly472Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591635	CCAGGTGATAAAGGACTCCAAGGAGAACAAGGAGTGAAAGGTTTGATCTCCAAACATATTC
387906756	39035	NM_001698.2(AUH):c.650G>A (p.Gly217Asp)	AUH	Sep 21, 2010	MedGen:C0342727,OMIM:250950,Orphanet:ORPHA67046,SNOMED CT:237950009	3-Methylglutaconic aciduria	germline	9	91296026	TGGTTGAAACAAAATTGGCGATTATTCCTGGTGGAGGTATGAGTAGTTCACGCCCATTCCT
397509417	75097	NM_021942.5(TRAPPC11):c.2938G>A (p.Gly980Arg)	TRAPPC11	Jul 11, 2013	MedGen:C3809236,OMIM:615356	Limb-girdle muscular dystrophy, type 2S	germline	4	183701783	CTTGGAAATATTGAAGGTGGAGTAGCAACCGGGCATTATATTATCTCTTGGAAAAGGTAAG
104894430	21034	NM_014252.3(SLC25A15):c.79G>A (p.Gly27Arg)	SLC25A15	Jun 29, 2017	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	germline	13	40799080	ATTGCAGGAGGTACAGCATGTGTACTGACCGGGCAGCCCTTTGACACAATGAAAGTGAAGA
879253825	224653	NM_000255.3(MUT):c.129G>A (p.Trp43Ter)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49459338	ACACCAGCAACAGCCCCTTCACCCAGAATGGGCTGCCCTGGCTAAAAAGCAGCTGAAAGGC
104893863	15529	NM_000320.2(QDPR):c.68G>A (p.Gly23Asp)	QDPR	Jun 01, 1993	MedGen:C0268465,OMIM:261630,Orphanet:ORPHA226,SNOMED CT:58256000	Dihydropteridine reductase deficiency	germline	4	17511987	TGCTGGTGTACGGCGGCAGGGGCGCTCTGGGTTCTCGATGCGTGCAGGCTTTTCGGGCCCG
68058881	103051	NM_000531.5(OTC):c.298+1G>A	OTC	Jun 20, 2017	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38369878	GTACTCGAACAAGATTGTCTACAGAAACAGGTAAGTCCACTGCCAAATTCACACTTGTGTT
104893914	31196	NM_001018077.1(NR3C1):c.2035G>A (p.Gly679Ser)	NR3C1	Apr 01, 2006	MedGen:C1841972,OMIM:615962,Orphanet:ORPHA786	Glucocorticoid resistance, generalized	germline	5	143282714	CTTCATCTTAACCTTTTAGTTCCTAAGGACGGTCTGAAGAGCCAAGAGCTATTTGATGAAA
886039329	259769	NM_000094.3(COL7A1):c.8012G>A (p.Gly2671Glu)	COL7A1	Nov 23, 2015	MedGen:CN517202	not provided	germline	3	48567608	AGGGGGAGCCTGGTGTGCCGGGCCAGTCGGGGGCCCCTGGCAAGGAGGGCCTGATCGGTCC
863225090	214083	NM_005183.3(CACNA1F):c.2542G>A (p.Gly848Ser)	CACNA1F	Jun 11, 2013	MedGen:C1845407,OMIM:300476	Cone-rod dystrophy X-linked 3	germline	X	49219668	CCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCA
1064796702	410731	NM_000214.2(JAG1):c.863G>A (p.Trp288Ter)	JAG1	Feb 22, 2017	MedGen:CN517202	not provided	germline	20	10652491	AGCCCTGGCAGTGCCTCTGTGAGACCAACTGGGGCGGCCAGCTCTGTGACAAAGGTATGGC
796053521	204229	NM_052859.3(RFT1):c.892G>A (p.Glu298Lys)	RFT1	Oct 01, 2009	MedGen:C2677590,OMIM:612015,Orphanet:ORPHA244310	Congenital disorder of glycosylation type 1N	germline	3	53105738	GTGGCCAGATTAATTTTCCAGCCAATAGAGGAAAGTTTTTATATATTTTTTGCTAAGGTGC
140593	175987	NM_000138.4(FBN1):c.3037G>A (p.Gly1013Arg)	FBN1	Aug 02, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48489896	GAGTACGAGGAGCTGTGTCCGAGAGGACCCGGATTTGCCACAAAAGAAATTACAAATGGAA
746549806	223295	NM_015160.2(PMPCA):c.766G>A (p.Val256Met)	PMPCA	Oct 12, 2016	MedGen:C1859298,OMIM:213200,Orphanet:ORPHA1170	Spinocerebellar ataxia, autosomal recessive 2	germline	9	136417083	TACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACT
104894385	17604	NM_006493.2(CLN5):c.225G>A (p.Trp75Ter)	CLN5	Aug 01, 2013	MedGen:C1850442,OMIM:256731,Orphanet:ORPHA228360	Ceroid lipofuscinosis neuronal 5	germline	13	76992176	CGCGGGCGCGGCTCGGGGACGCGCTTCCTGGTGCTGGGCCCTGGCGCTGCTTTGGCTCGCG
749070370	353971	NM_172107.3(KCNQ2):c.1956G>A (p.Pro652=)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63407307	TATCTACATGCAGCGGATGGGCATCCCCCCGACAGAGACCGAGGCCTACTTTGGGGCCAAA
281874671	47361	NM_000495.4(COL4A5):c.1589G>A (p.Gly530Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597378	TTTTTTCTTTTTTTCCTTACTCATTTCAGGGCATTCCAGGAGCTCCAGGTGCTCCAGGCTT
727503988	177801	NM_003482.3(KMT2D):c.2797+1G>A	KMT2D	Jan 17, 2014	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49050885	CATCCTTGTCGCCTCAGCTGATGCCACCAGGTAAGGGGATGTTAGTACTCTGTTATTCTGG
74315460	18100	NM_000487.5(ARSA):c.263G>A (p.Gly88Asp)	ARSA	Jan 01, 1994	MedGen:C4017094	Metachromatic leukodystrophy, severe	germline	22	50627368	TCCTGACCGGCCGGCTCCCGGTTCGGATGGGCATGTACCCTGGCGTCCTGGTGCCCAGCTC
756039188	243266	NM_000527.4(LDLR):c.12G>A (p.Trp4Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089560	CCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTG
121908753	22237	NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117540285	TCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTA
104886186	35877	NM_000495.4(COL4A5):c.2554G>A (p.Gly852Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108620303	CCAGGAGAGAAGGGGGATCCAGGACCTCCTGGACTTGATGTTCCAGGACCCCCAGGTGAAA
-1	444363	NM_000118.3(ENG):c.67+1G>A	ENG	May 05, 2016	MedGen:CN517202	not provided	germline	9	127854288	TGCTGGCCAGCTGCAGCCTCAGCCCCACAAGTAGGTGTCCAGGGACCCAGGGTGGGGAGAC
113994033	19156	NM_001034116.1(EIF2B4):c.1070G>A (p.Arg357Gln)	EIF2B4	Feb 01, 2002	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	2	27366880	AGGAGGCTTGGACAGAGGGCCGGCGGTTTCGGGTGGTAGTGGTGGACAGCCGGCCATGGCT
121912655	27393	NM_000546.5(TP53):c.725G>A (p.Cys242Tyr)	TP53	Jul 06, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MedGen:C2675080;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630	Adenocarcinoma of lung;Adenocarcinoma of stomach;Carcinoma of esophagus;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni-like syndrome;Neoplasm of the breast;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	germline;somatic	17	7674238	TCCACTACAACTACATGTGTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCT
886041015	263157	NM_006087.3(TUBB4A):c.1054G>A (p.Ala352Thr)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495445	GTGGAGTGGATCCCCAACAACGTGAAGACGGCCGTGTGCGACATCCCGCCCCGCGGCCTGA
200382776	205564	NM_080860.3(RSPH1):c.727+5G>A (p.Ala244ValfsTer22)	RSPH1	Sep 03, 2015	MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Kartagener syndrome	germline	21	42477286	TGGCCAAGACGCTCCAGGAGCTGAGAGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGG
104893697	23365	NM_000388.3(CASR):c.571G>A (p.Glu191Lys)	CASR	Oct 10, 1996	MedGen:C0342345,OMIM:601198	Hypocalcemia, autosomal dominant 1	germline	3	122261606	AAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCA
377767356	36184	NM_005359.5(SMAD4):c.1168G>A (p.Glu390Lys)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51067047	AGGTTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGAAGGTGATGTTTGGGTCA
398124208	101189	NM_005609.3(PYGM):c.1366G>A (p.Val456Met)	PYGM	Sep 04, 2014	MedGen:C0017924,OMIM:232600,Orphanet:ORPHA368,SNOMED CT:55912009	Glycogen storage disease, type V	germline;unknown	11	64753556	TGCATCGCGGGGTCGCACGCCGTCAACGGCGTGGCGCGCATCCACTCCGAGATCCTCAAGA
28936069	26748	NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser)	EFNB1	Jun 08, 2004	MedGen:C0220767,OMIM:304110	Craniofrontonasal dysplasia	germline	X	68839708	AGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATCA
121909736	31166	NM_005271.4(GLUD1):c.953G>A (p.Arg318Lys)	GLUD1	Jan 01, 2000	MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878	Hyperinsulinism-hyperammonemia syndrome	germline	10	87061021	GATTTGGTAATGTGGGCCTACACTCTATGAGATATTTACATCGTTTTGGTGCTAAATGTAT
-1	444317	NM_017890.4(VPS13B):c.6030G>A (p.Trp2010Ter)	VPS13B	Aug 31, 2017	MedGen:CN517202	not provided	germline	8	99661400	GCCTGAAGCCCTTGATTATTGCACTGTTTGGCTACAGACAGTGCCTGGAGAAATAGACAGC
-1	439637	NM_013335.3(GMPPA):c.853+1G>A	GMPPA	-	MedGen:C3809738,OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	germline	2	219505556	AGCACACCCCAGGGGGCCCATGGATCCGAGGTACCCAGCCTGCCCCAATTCCTAACCTTTG
104886451	35678	NM_000495.4(COL4A5):c.891+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108580739	AAGGGTGAGCAAGGAGAGCCAGGCAAAAGAGTAAGTGATGTAACTGCTAATATTCTTTGCA
119103288	17537	NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp)	EXT1	Jun 01, 1998	Human Phenotype Ontology:HP:0002762,MedGen:C0015306,OMIM:133700,SNOMED CT:254044004	Multiple congenital exostosis	germline	8	117837148	ACAATGCCACTTTCTGTCTGGTTCCTCGTGGTCGCAGGCTTGGGTCCTTCAGATTCCTGGA
137852621	24474	NM_000023.3(SGCA):c.293G>A (p.Arg98His)	SGCA	Apr 17, 2017	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline;unknown	17	50167717	TCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTCAGG
104894612	21738	NM_005450.4(NOG):c.551G>A (p.Cys184Tyr)	NOG	Dec 01, 2001	Human Phenotype Ontology:HP:0100264,MedGen:C1861385,OMIM:185800,Orphanet:ORPHA3250	Cushing's symphalangism	germline	17	56594774	AGGTGGGCAGCTGCTTCAGTAAGCGCTCGTGCTCCGTGCCCGAGGGCATGGTGTGCAAGCC
587779421	106852	NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997746	AAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGT
267607934	96680	NM_000251.2(MSH2):c.792+1G>A	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47412561	AGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATAT
137852500	25114	NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg)	HPRT1	May 12, 2011	na;MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004	HPRT TOOWONG;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	germline	X	134475218	CGTCTTGCTCGAGATGTGATGAAGGAGATGGGAGGCCATCACATTGTAGCCCTCTGTGTGC
111033730	36558	NM_000155.3(GALT):c.595G>A (p.Ala199Thr)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648364	GTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCT
76857106	19680	NM_006397.2(RNASEH2A):c.109G>A (p.Gly37Ser)	RNASEH2A	Mar 13, 2014	MedGen:C1835912,OMIM:610333	Aicardi Goutieres syndrome 4	germline	19	12806782	GAGCCTTGCGTCCTGGGCGTCGATGAGGCGGGCAGGGGCCCCGTGCTGGGTGCGCCCCTAG
121908453	20892	NM_022336.3(EDAR):c.1259G>A (p.Arg420Gln)	EDAR	Jul 25, 2016	MedGen:C1720965,OMIM:129490;MedGen:C3551587;MedGen:CN517202	Autosomal dominant hypohidrotic ectodermal dysplasia;Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant;not provided	germline	2	108896995	AGCTACTCACAAAACTGGTGCAGATTGAGCGGCTGGATGCTGTGGAGTCCTTGTGTGCAGA
587779540	106990	NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006418	CTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAAGAGTGGTGACAGAGGAGA
146405172	191634	NM_000392.4(ABCC2):c.1967+1G>A	ABCC2	Feb 04, 2015	MedGen:C0022350,OMIM:237500,Orphanet:ORPHA234,SNOMED CT:44553005	Dubin-Johnson syndrome	germline	10	99811603	GGAACATGATTCGGAAGCCACAGTCCGAGAGTGAGTTGCCTTCTTTCCATCCTAATGTTCT
747446711	472490	NM_000465.3(BARD1):c.1886G>A (p.Trp629Ter)	BARD1	Jun 23, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214745084	AGTGTATGCTTGGGATTCTCAATGGATGCTGGATTCTAAAATTTGAATGTAAGTGTTGGAT
587777511	143243	NM_006439.4(MAB21L2):c.152G>A (p.Arg51His)	MAB21L2	Jun 05, 2015	MedGen:C4014540,OMIM:615877,Orphanet:ORPHA424099	Microphthalmia/coloboma and skeletal dysplasia syndrome	de novo;germline	4	150583181	TGCTCAAGGAAGTGGAGGTGCAGGAGCCTCGCTTCATCAGCTCCTTGAGCGAGATCGATGC
142439390	445074	NM_001038.5(SCNN1A):c.875+1G>A	SCNN1A	Jun 28, 2017	MedGen:CN517202	not provided	germline	12	6362050	CCGCTTCAACCAGGTCTCCTGCAACCAGGCGTGAGTCAGTCCTGCCTGGCTCCTTGCTCTC
1060501077	400143	NM_000138.4(FBN1):c.7466G>A (p.Cys2489Tyr)	FBN1	May 13, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48422056	TCTTGCATTTTCTTGTAGATCTTGATGAGTGTGCAACCAAGCAACACAACTGCCAGTTCCT
121918296	17748	NM_178443.2(FERMT3):c.48G>A (p.Trp16Ter)	FERMT3	Mar 01, 2009	MedGen:C2748536,OMIM:612840,Orphanet:ORPHA99844	Leukocyte adhesion deficiency, type III	germline	11	64207412	AGCCTCCGGGGACTACATCGACTCGTCATGGGAGCTGCGGGTGTTTGTGGGAGAGGAGGAC
397509412	70509	NM_001376.4(DYNC1H1):c.10031G>A (p.Arg3344Gln)	DYNC1H1	Jun 01, 2013	MedGen:C3281202,OMIM:614563	Mental retardation, autosomal dominant 13	germline	14	102032419	ACTGGAAGCAGATCCGCTCCATCATCATGCGGGAGAACTTCATCCCCACCATCGTCAACTT
863223403	209408	NM_002140.4(HNRNPK):c.257G>A (p.Arg86His)	HNRNPK	Oct 01, 2015	MedGen:C4225274,OMIM:616580;MedGen:CN517202	AU-KLINE SYNDROME;not provided	de novo;germline	9	83975462	TTTCAGTCCCAGACAGCAGTGGCCCCGAGCGGTATGTCCCAACAGTTTATGCCTCACTGCC
377546036	39975	NM_001159772.1(CANT1):c.676G>A (p.Val226Met)	CANT1	Oct 12, 2017	MedGen:C4012146,OMIM:251450;MedGen:CN533578,OMIM:617719	Desbuquois dysplasia 1;EPIPHYSEAL DYSPLASIA, MULTIPLE, 7	not provided	17	78995177	TGGCTGGCAGTGAAGGACGAGCGTCTGTACGTGGGCGGCCTGGGCAAGGAGTGGACGACCA
606231367	32180	NM_001853.3(COL9A3):c.148-1G>A	COL9A3	Feb 01, 2000	MedGen:C3152083	Epiphyseal dysplasia, multiple, 3, with myopathy	germline	20	62818517	CAGGGTTACATGTGGGTGTCTTTCCTCACAGGGAGAAGCTGGTCCTCCAGGTCTGCCTGGG
61751410	104926	NM_000350.2(ABCA4):c.122G>A (p.Trp41Ter)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline;unknown	1	94113011	GGCCTTTATCTTTATTTCTGGTCTTGATCTGGTTAAGGAATGCCAACCCACTCTACAGCCA
756029120	186883	NM_000053.3(ATP7B):c.3517G>A (p.Glu1173Lys)	ATP7B	Apr 13, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51941120	AGCGATGTCAGTGACGCTATGACAGACCACGAGATGAAAGGACAGACAGCCATCCTGGTGG
796052062	200518	NM_000030.2(AGXT):c.595G>A (p.Gly199Ser)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240873049	GGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAG
121908873	21491	NM_000369.2(TSHR):c.842G>A (p.Ser281Asn)	TSHR	May 01, 1998	MedGen:C1836706,OMIM:609152,Orphanet:ORPHA424	Hyperthyroidism, nonautoimmune	germline	14	81139828	ACCTCACACGGGCTGACCTTTCTTACCCAAGCCACTGCTGTGCTTTTAAGAATCAGAAGAA
587776651	22097	NM_012233.2(RAB3GAP1):c.748+1G>A	RAB3GAP1	Nov 28, 2017	MedGen:C1838625,OMIM:600118;MedGen:CN517202	Warburg micro syndrome 1;not provided	germline	2	135120919	AGCAGTATTTTTGGCCTCAGCAACCTCCAGGTGAGATCATTTAGAACTATATTTAACTTAC
63751624	96496	NM_000251.2(MSH2):c.2634G>A (p.Glu878=)	MSH2	Aug 01, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	2	47480871	AGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTT
45517411	58525	NM_000548.4(TSC2):c.5220G>A (p.Trp1740Ter)	TSC2	May 25, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2088286	CAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTC
587777374	133690	NM_001145155.1(NR2F2):c.571+1G>A	NR2F2	Feb 01, 2018	MedGen:C4014310,OMIM:615779	Congenital heart defects, multiple types, 4	germline	15	96334604	GCCTCAAGGCCATAGTCCTGTTCACCTCAGGTAGGAAGGAGCCCTGTCTTCTCGTGCCCAC
137852573	24859	NM_000044.4(AR):c.1823G>A (p.Arg608Gln)	AR	Feb 13, 2017	MedGen:C0268301,OMIM:312300,Orphanet:ORPHA90797,SNOMED CT:58672003;MedGen:CN517202	Partial androgen insensitivity syndrome;not provided	germline	X	67686064	GCAGAAATGATTGCACTATTGATAAATTCCGAAGGAAAAATTGTCCATCTTGTCGTCTTCG
121918033	28619	NM_000301.3(PLG):c.2251G>A (p.Gly751Arg)	PLG	Dec 01, 1998	MedGen:C0521808	Dysplasminogenemia	germline	6	160752240	TCCACCGAACTCTGTGCTGGGCATTTGGCCGGAGGCACTGACAGTTGCCAGGTAAGCAAAG
111033617	25065	NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln)	IL2RG	Apr 14, 2016	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006	X-linked severe combined immunodeficiency	germline	X	71108599	GCCTTCTCTGTGTGTATTTCTGGCTGGAACGGTGAGATTTGGAGAAGCCCAGAAAAATGAG
121918675	27686	NM_000458.3(HNF1B):c.494G>A (p.Arg165His)	HNF1B	Mar 01, 2005	MedGen:C0431693,OMIM:137920,SNOMED CT:253864004	Familial hypoplastic, glomerulocystic kidney	unknown	17	37739490	ACAAGGGCACCCCTATGAAGACCCAGAAGCGTGCCGCTCTGTACACCTGGTACGTCAGAAA
137854890	48497	NM_000372.4(TYR):c.272G>A (p.Cys91Tyr)	TYR	Oct 05, 2012	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008	Tyrosinase-negative oculocutaneous albinism	germline	11	89178225	CTTCCGTCTTTTATAATAGGACCTGCCAGTGCTCTGGCAACTTCATGGGATTCAACTGTGG
886040966	262312	NM_002317.6(LOX):c.125G>A (p.Trp42Ter)	LOX	Oct 24, 2016	MedGen:C4284414,OMIM:617168	Aortic aneurysm, familial thoracic 10	germline	5	122077861	CGCGCGAGCCGCCGGCGGCTCCGGGCGCCTGGCGCCAGCAGATCCAATGGGAGAACAACGG
140522266	199951	NM_015506.2(MMACHC):c.440G>A (p.Gly147Asp)	MMACHC	Aug 18, 2016	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26;MedGen:CN517202	Methylmalonic acidemia with homocystinuria;not provided	germline	1	45508806	TTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTG
397517346	55160	NM_022124.5(CDH23):c.5923+1G>A	CDH23	Sep 27, 2010	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71789043	AGGCAGAGGTGATGGAAAACTCTCCCGCTGGTAGGTGCTGGGCCCACCCGGGAGCTCCTGC
794727343	192758	NM_003494.3(DYSF):c.1956G>A (p.Trp652Ter)	DYSF	Mar 17, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:C1847532,OMIM:606768,Orphanet:ORPHA178400	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;Myopathy, distal, with anterior tibial onset	germline	2	71553832	TCCAGGGTGCCACTACTACTACCTACCCTGGGGTAACGTGAAACCTGTGGTGGTGCTGTCA
118203387	58208	NM_000368.4(TSC1):c.491G>A (p.Trp164Ter)	TSC1	Mar 06, 2014	MedGen:C0751674,OMIM:606690,Orphanet:ORPHA538,SNOMED CT:73017001;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Lymphangiomyomatosis;Tuberous sclerosis syndrome;not provided	germline	9	132923365	TCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGTACAGATCTCCT
74315289	19426	NM_057176.2(BSND):c.139G>A (p.Gly47Arg)	BSND	Feb 01, 2003	MedGen:C1865270,OMIM:602522	Bartter syndrome type 4	germline	1	54999325	TTCTATGCCATGGGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCATGTGCCAGTGCT
587777603	152959	NM_015600.4(ABHD12):c.477G>A (p.Trp159Ter)	ABHD12	Aug 01, 2014	MedGen:C2675204,OMIM:612674,Orphanet:ORPHA171848	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	germline	20	25320264	GAAGAACGCCCAAGGCAAAGACCAGATGTGGTATGAGGATGCCTTGGCTTCCAGCCACCCT
75718910	76970	NM_006397.2(RNASEH2A):c.704G>A (p.Arg235Gln)	RNASEH2A	Mar 13, 2014	MedGen:C1835912,OMIM:610333	Aicardi Goutieres syndrome 4	germline	19	12813149	AGCCTGTGTTCGGCTTCCCCCAGTTTGTCCGGTTCAGCTGGCGCACGGCCCAGACCATCCT
986151799	434153	NM_174936.3(PCSK9):c.1503G>A (p.Glu501=)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55058647	GAGTGGGAAGCGGCGGGGCGAGCGCATGGAGGTGACTGTACCCCTCCTTCGTGTGTGTGTG
72645334	414021	NM_000088.3(COL1A1):c.841G>A (p.Gly281Ser)	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50196634	AGTGGTTTGGATGGTGCCAAGGGAGATGCTGGTCCTGCTGGTCCTAAGGTAAGAGGCTGTC
147579680	107250	NM_173812.4(DPY19L2):c.869G>A (p.Arg290His)	DPY19L2	Mar 10, 2014	MedGen:C3151407,OMIM:613958	Spermatogenic failure 9	germline	12	63624124	AGTGGGCATTTTGTTGATTTCAGGCCACCCGTGTGATGTGGACACCACCTCTCCGTGAAAG
72552258	21656	NM_005589.3(ALDH6A1):c.1336G>A (p.Gly446Arg)	ALDH6A1	Jul 01, 2000	MedGen:C1864150,OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	germline	14	74065249	CAGATTGTAAATAACAACCCATATGGAAATGGAACTGCCATCTTCACCACCAATGGAGCCA
886041848	264130	NM_198056.2(SCN5A):c.467G>A (p.Trp156Ter)	SCN5A	Jul 15, 2016	MedGen:CN517202	not provided	germline	3	38622415	TGTTCATGGCCCAGCACGACCCTCCACCCTGGACCAAGTATGTCGAGTGAGTATCTTCAGG
515726195	136343	NM_015713.4(RRM2B):c.632G>A (p.Arg211Lys)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102218866	CTTTTGCTGCTATATTCTGGCTAAAGAAGAGAGGTCTTATGCCAGGACTCACTTTTTCCAA
121964952	27075	NM_000892.4(KLKB1):c.367G>A (p.Gly123Arg)	KLKB1	Jul 01, 2007	MedGen:C0272339,OMIM:612423,Orphanet:ORPHA749,SNOMED CT:48976006	Prekallikrein deficiency	germline	4	186236819	CGAGACATTTATAAAGGAGTTGATATGAGAGGAGTCAATTTTAATGTGTCTAAGGTTAGCA
575472572	39135	NR_023343.1(RNU4ATAC):n.55G>A	RNU4ATAC	Jun 01, 2012	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	Osteodysplastic primordial dwarfism, type 1	germline	2	121530934	CTACTGTCCAATGAGCGCATAGTGAGGGCAGTACTGCTAACGCCTGAACAACACACCCGCA
180177259	186659	NM_000030.2(AGXT):c.737G>A (p.Trp246Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240875165	AGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCA
786205862	189178	NM_000159.3(GCDH):c.675G>A (p.Trp225Ter)	GCDH	Mar 02, 2016	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline;unknown	19	12896244	CTCGCCTATGGCCGATCTGTTTGTAGTGTGGGCTCGGTGTGAAGATGGCTGCATTCGGGGC
111888148	136848	NM_000540.2(RYR1):c.1589G>A (p.Arg530His)	RYR1	Jun 01, 2014	MedGen:CN031421,OMIM:145600;MedGen:CN517202	Malignant hyperthermia, susceptibility to, 1;not provided	germline;unknown	19	38455463	CACCTCTTCCCCCCTCAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTC
779857359	433541	NM_147127.4(EVC2):c.645G>A (p.Trp215Ter)	EVC2	Apr 11, 2017	MedGen:CN169374	not specified	germline	4	5689218	GCTGGACAGCATTGCTGGTCTCACCATTTGGGACTCTGTGGGAAACAGGACCTCGGAAGGA
-1	444306	NM_018972.2(GDAP1):c.929G>A (p.Arg310Gln)	GDAP1	Jul 14, 2017	MedGen:CN517202	not provided	germline	8	74364219	TAATCTCTGCAGTGCTGCCAACAGCATTCCGGGTGGCCAAGAAAAGGGCCCCAAAAGTTCT
267607689	96630	NM_000251.2(MSH2):c.645+1G>A	MSH2	Aug 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47410373	ACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGA
-1	440085	NM_001199397.1(NEK1):c.418G>A (p.Gly140Arg)	NEK1	Jun 01, 2017	MedGen:C0432198,OMIM:269860,SNOMED CT:254052001	Type IV short rib polydactyly syndrome	maternal	4	169589493	CTTTTACAGAACATATTTTTAACTAAAGATGGAACAGTACAACTTGGAGATTTTGGAATTG
387906468	25420	NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD PUERTO LIMON	germline	X	154532752	TGCGGCAAGGCCCTGAACGAGCGCAAGGCCGAGGTGAGGCTGCAGTTCCATGATGTGGCCG
878854073	376684	NM_000546.5(TP53):c.673-1G>A	TP53	Sep 25, 2015	MedGen:CN517202	not provided	germline	17	7674291	GGCCTCATCTTGGGCCTGTGTTATCTCCTAGGTTGGCTCTGACTGTACCACCATCCACTAC
397514044	49356	NM_024334.2(TMEM43):c.253G>A (p.Glu85Lys)	TMEM43	Jun 01, 2011	MedGen:C3553060,OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	germline	3	14130912	GACAGCATCCACAGTGTGGCTCCGGAGAATGAAGGAAGGCTGGTGCACATCATTGGCGCCT
1057519438	362151	NM_001039803.2(CDK20):c.564G>A (p.Trp188Ter)	CDK20	-	Human Phenotype Ontology:HP:0007018,MedGen:C1263846,OMIM:143465,SNOMED CT:406506008;Human Phenotype Ontology:HP:0000365,MedGen:C0018772;Human Phenotype Ontology:HP:0000722,MedGen:C0600104;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Attention deficit hyperactivity disorder;Hearing impairment;Obsessive-compulsive behavior;Seizures	de novo	9	87969919	TCTGACCTGCTTGGGGCTCTGTGTCCACAGGTCTGTGGGCTGCATCATGGGGGAGCTGTTG
121908522	20682	NM_000030.2(AGXT):c.245G>A (p.Gly82Glu)	AGXT	Mar 07, 2016	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240869249	ACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAA
267607221	20729	NM_002334.3(LRP4):c.479G>A (p.Cys160Tyr)	LRP4	May 14, 2010	MedGen:C1859309,OMIM:212780,Orphanet:ORPHA3258	Syndactyly Cenani Lenz type	germline	11	46899455	ACAAGGAGTTCCGCTGTAGTGACGGAAGCTGCATTGCTGAGCATTGGTACTGCGACGGTGA
104894260	31726	NM_130799.2(MEN1):c.1307G>A (p.Trp436Ter)	MEN1	Sep 06, 2017	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN517202	Multiple endocrine neoplasia, type 1;not provided	germline	11	64805077	GCAGTCCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTAGGCCG
371675217	98212	NM_000023.3(SGCA):c.101G>A (p.Arg34His)	SGCA	Aug 21, 2017	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2D;not provided	germline;unknown	17	50167431	AGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCACACCTTGGACCATGAGAC
121909347	23427	NM_000557.4(GDF5):c.1424G>A (p.Ser475Asn)	GDF5	Nov 20, 2014	MedGen:C1832708,OMIM:610017	Multiple synostoses syndrome 2	germline	20	35433991	GCTGTGTGCCCACGCGGCTGAGTCCCATCAGCATCCTCTTCATTGACTCTGCCAACAACGT
387907192	40341	NM_014714.3(IFT140):c.1990G>A (p.Glu664Lys)	IFT140	Nov 22, 2017	MedGen:CN638473,OMIM:617781;MedGen:C1849437,OMIM:266920,Orphanet:ORPHA140969	RETINITIS PIGMENTOSA 80;Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	not provided	16	1564074	GACCAGAGTGAGCCCCGGCTGTTTGTATGCGAAGCCGTGCAGGAGACGCCGCGCTCCCAGC
60791294	21600	NM_001171.5(ABCC6):c.3413G>A (p.Arg1138Gln)	ABCC6	Jun 01, 2000	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16163086	CTGAGACGTTCCAGGGCAGCACAGTGGTCCGGGCATTCCGAACCCAGGCCCCCTTTGTGGC
138909849	226848	NM_014669.4(NUP93):c.1537+1G>A	NUP93	Apr 06, 2016	MedGen:C4225166,OMIM:616892	Nephrotic syndrome, type 12	germline	16	56833407	TAAAGTCCTCTGGACAGAGTGCTCAGCTCCGTGAGTATTTGGGATTGGATTGACAGTAATG
199473428	78157	NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser)	KCNH2	Jan 23, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C3150943,OMIM:613688;MedGen:C3150943,OMIM:613688;MedGen:C1865020,OMIM:609620;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 2;Long QT syndrome 2;Short QT syndrome 1;not provided	germline;maternal	7	150951643	ATGGAGCAGCCACACATGGACTCACGCATCGGCTGGCTGCACAACCTGGGCGACCAGATAG
137854483	31503	NM_000138.4(FBN1):c.3662G>A (p.Cys1221Tyr)	FBN1	Jan 01, 2006	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48485424	TCTGCACAAACTCTGAAGGCAGCTATGAATGTAGCTGTCAGCCGGGATTTGCACTAATGCC
767083273	371525	NM_000494.3(COL17A1):c.1906G>A (p.Gly636Arg)	COL17A1	Jan 06, 2017	MedGen:CN517202	not provided	germline	10	104053064	GAAGGCCCCATGGGACCTCGTGGTGAGGCAGGGCCTCCTGGATCTGGAGAGAAAGGGGAAA
794728568	204198	NM_000218.2(KCNQ1):c.557G>A (p.Gly186Asp)	KCNQ1	Jan 01, 2013	MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007	Long QT syndrome 1	germline	11	2570707	GGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAA
797045072	445988	NM_001083962.1(TCF4):c.1069+1G>A	TCF4	Jun 26, 2017	MedGen:CN517202	not provided	germline	18	55259948	CTCCTGTTGGCTCTCCTCCATCTCTCTCAGGTAGTGTATTTCAAATCCCATTTCATCATAT
61749398	15339	NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282974,Orphanet:ORPHA166090,SNOMED CT:359729006	not provided;von Willebrand disease type 2M	germline	12	6019448	GTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACC
1064794308	409142	NM_005982.3(SIX1):c.329G>A (p.Arg110Gln)	SIX1	Mar 27, 2017	MedGen:CN517202	not provided	germline	14	60648861	GCCGACCCCTGGGCGCCGTGGGCAAATATCGGGTGCGCCGAAAATTTCCACTGCCGCGCAC
121912953	32147	NM_004530.5(MMP2):c.302G>A (p.Arg101His)	MMP2	Feb 01, 2007	MedGen:C1850155,OMIM:259600	Multicentric osteolysis, nodulosis and arthropathy	germline	16	55483057	AGAATACCATCGAGACCATGCGGAAGCCACGCTGCGGCAACCCAGATGTGGCCAACTACAA
28936674	23996	NM_000098.2(CPT2):c.520G>A (p.Glu174Lys)	CPT2	May 15, 2014	MedGen:C0342790,Orphanet:ORPHA157,SNOMED CT:238002005;MedGen:C1833511,OMIM:600649,Orphanet:ORPHA228305	Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile	germline	1	53210194	AAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTG
200166664	107258	NM_006147.3(IRF6):c.1199G>A (p.Arg400Gln)	IRF6	Sep 01, 2010	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209788625	GTCCTGAACAGGTCATTCCAGTAGTGGCTCGGATGATCTACGAGATGTTTTCTGGTGATTT
587779581	107038	NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp)	COL3A1	Mar 08, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999516	CTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGG
180177038	29016	NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys)	BRAF	Dec 29, 2015	MedGen:CN029449,OMIM:115150,SNOMED CT:403770008;MedGen:C3150970,OMIM:613706;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Cardiofaciocutaneous syndrome 1;Noonan syndrome 7;Rasopathy;not provided	germline;unknown	7	140778007	ACACCTCAGCAGTTACAAGCCTTCAAAAATGAAGTAGGAGTACTCAGGTGAGCTTGTGTGA
864309715	215724	NM_001009999.2(KDM1A):c.1207G>A (p.Glu403Lys)	KDM1A	Dec 10, 2015	MedGen:C4225229,OMIM:616728,Orphanet:ORPHA477993	Cleft palate, psychomotor retardation, and distinctive facial features	de novo;germline	1	23068566	CAGGTTCCTAAAGAGAAAGATGAAATGGTAGAGCAAGAGTTTAACCGGTTGCTAGAAGCTA
121909793	22788	NM_001017535.1(VDR):c.239G>A (p.Arg80Gln)	VDR	Apr 01, 1990	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47865085	AGGACAACCGACGCCACTGCCAGGCCTGCCGGCTCAAACGCTGTGTGGACATCGGCATGAT
587778777	76741	NM_000784.3(CYP27A1):c.1184+1G>A	CYP27A1	Aug 03, 2016	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000;MedGen:CN517202	Cholestanol storage disease;not provided	germline	2	218814188	GCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAG
281865355	104887	NM_000330.3(RS1):c.590G>A (p.Arg197His)	RS1	Jun 21, 2017	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;MedGen:CN517202	Juvenile retinoschisis;not provided	germline;unknown	X	18642089	AGAACCTGCTGCGGCCCCCCATCATCTCCCGCTTCATCCGCCTCATCCCGCTGGGCTGGCA
771066826	434384	NM_052988.4(CDK10):c.608+1G>A	CDK10	Sep 29, 2017	MedGen:CN502749,OMIM:617694	AL KAISSI SYNDROME	germline	16	89693468	GCCAATGACCCCCAAGGTGGTCACTCTCTGGTAAGTCCTTCTGAAGCATGGTGGCCCCTGG
879254459	245464	NM_000527.4(LDLR):c.298G>A (p.Asp100Asn)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102771	GATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTG
200620279	360016	NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr)	ACAD8	Jan 06, 2016	MedGen:CN517202	not provided	germline	11	134261756	CCTGTGCTGCAGTACTTGCAATTCACACTGGCTGATATGGCAACAAGGCTGGTGGCCGCGC
398122565	96934	NM_000059.3(BRCA2):c.681+1G>A	BRCA2	Jan 31, 2014	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32329493	GAAACTGTATTTCCTCATGATACTACTGCTGTAAGTAAATATGACATTGATTAGACTGTTG
121912464	29776	NM_001005619.1(ITGB4):c.4592G>A (p.Trp1531Ter)	ITGB4	Nov 01, 1998	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403	Epidermolysis bullosa junctionalis with pyloric atresia	germline	17	75755785	CCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCA
150038620	187049	NM_004646.3(NPHS1):c.2335-1G>A	NPHS1	Jun 05, 2017	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	germline;unknown	19	35842551	GGAGGCCAATTCTGGACTCTTGGGCCTCCAGGGAGAAGATGAGGAGGACCAGAGCCTGGAT
786201063	181619	NM_003000.2(SDHB):c.286+1G>A	SDHB	Jun 30, 2014	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome	germline	1	17033059	CTTTGACCTTCCGAAGATCATGCAGAGAAGGTGAGCATTTCATTCCTGTTGGGCTCCAGAT
386134178	51303	NM_020919.3(ALS2):c.1619G>A (p.Gly540Glu)	ALS2	Feb 10, 2011	MedGen:C1853396,OMIM:606353,Orphanet:ORPHA247604	Juvenile primary lateral sclerosis	not provided	2	201754524	CCTGGGGGAAAGGGAAGGAAGGGCAGCTGGGGCACGGCGATGTTCTGCCTAGGTAAGCGCT
1131690851	420546	NM_000321.2(RB1):c.1345G>A (p.Gly449Arg)	RB1	Oct 02, 2012	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48379606	CTTTTTGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAAT
761669036	259784	NM_004453.3(ETFDH):c.1832G>A (p.Gly611Glu)	ETFDH	Aug 25, 2015	MedGen:CN517202	not provided	germline	4	158708505	TTAACTGGGTGGTACCTGAAGGTGGAGGAGGACCTGCTTACAATGGAATGTAAACTGCAGC
387907189	40335	NM_006947.3(SRP72):c.620G>A (p.Arg207His)	SRP72	May 04, 2012	MedGen:C3808553,OMIM:614675	Bone marrow failure syndrome 1	germline	4	56476680	AAAACAATTTTTCTCCTGTAGATCTTTGCCGCCGTTCATTATCAGAAGACACTGTAAGTAT
879253835	224638	NM_000255.3(MUT):c.851G>A (p.Gly284Glu)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49456140	TTCTGGAGCTGGCCTATACTTTAGCAGATGGATTGGAGTACTCTAGAACTGGACTCCAGGC
730880451	179870	NM_000169.2(GLA):c.801G>A (p.Met267Ile)	GLA	Jan 18, 2014	MedGen:CN517202	not provided	germline	X	101398785	TGGACCAGGGGGTTGGAATGACCCAGATATGGTAAAAACTTGAGCCCTCCTTGTTCAAGAC
104894369	29106	NM_000432.3(MYL2):c.173G>A (p.Arg58Gln)	MYL2	Oct 31, 2017	MedGen:C1834460,OMIM:608758;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 10;Primary familial hypertrophic cardiomyopathy;not provided	germline;unknown	12	110914287	TCCCTGAGTGTGTGTTTCCTACCCTAGGGCGAGTGAACGTGAAAAATGAAGAAATTGATGA
121918721	48132	NM_000359.2(TGM1):c.1187G>A (p.Arg396His)	TGM1	Jan 18, 2013	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24258646	CAGTGCTGCGCTGCCTGGGTCTGGCCACCCGTACTGTCACCAACTTCAACTCCGCCCACGA
863225292	214535	NM_000806.5(GABRA1):c.902G>A (p.Arg301Lys)	GABRA1	Aug 12, 2014	MedGen:C3810400,OMIM:615744	Epileptic encephalopathy, early infantile, 19	de novo	5	161895711	TCACCATGACAACATTGAGCATCAGTGCCAGAAACTCCCTCCCTAAGGTGGCTTATGCAAC
61754367	18844	NM_000372.4(TYR):c.707G>A (p.Trp236Ter)	TYR	Jan 01, 1993	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178660	CAGGAGATGAAAACTTCACTATTCCATATTGGGACTGGCGGGATGCAGAAAAGTGTGACAT
727504159	177225	NM_003060.3(SLC22A5):c.338G>A (p.Cys113Tyr)	SLC22A5	Jul 29, 2016	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline;unknown	5	132370310	TGGACCTGGGGCAGCTGGAGCAGGAGAGCTGTCTGGATGGCTGGGAGTTCAGTCAGGACGT
772570523	225790	NM_006502.2(POLH):c.764+1G>A	POLH	Sep 26, 2016	MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342	Xeroderma pigmentosum, variant type	germline	6	43601092	GCTCTTCAGCCAAATGCCCATTCGCAAAATGTAAGTATTCAGGCAGCATGTTAAATTTCAC
587777774	166140	NM_006623.3(PHGDH):c.793G>A (p.Glu265Lys)	PHGDH	Sep 04, 2014	MedGen:CN032230,OMIM:256520	Neu-Laxova syndrome 1	germline	1	119737114	GCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACC
879254597	245665	NM_000527.4(LDLR):c.622G>A (p.Glu208Lys)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105528	TCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATG
267607571	77807	NM_170707.3(LMNA):c.569G>A (p.Arg190Gln)	LMNA	Jun 26, 2017	MedGen:CN517202	not provided	germline	1	156134458	AGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCAT
45517150	58558	NM_000548.4(TSC2):c.976-15G>A	TSC2	Jul 27, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2060655	AGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGA
886043966	272884	NM_003494.3(DYSF):c.5529G>A (p.Trp1843Ter)	DYSF	Jun 09, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71669608	CTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAG
-1	485806	NM_000061.2(BTK):c.863G>A (p.Arg288Gln)	BTK	Mar 03, 2010	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110	Agammaglobulinemia, non-Bruton type	germline	X	101359324	TTCACAGGTGGTATTCCAAACACATGACTCGGAGTCAGGCTGAGCAACTGCTAAAGCAAGA
587781558	150896	NM_000051.3(ATM):c.2921+1G>A	ATM	Jul 31, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	germline;unknown	11	108271147	AGATGTTCTTGAACTTCTGAAACCACTATCGTAAGAAATTAAAACCTTATGTTATGTTCAC
267607135	15173	NM_001128228.2(TPRN):c.1239G>A (p.Trp413Ter)	TPRN	Mar 12, 2010	MedGen:C2750082,OMIM:613307	Deafness, autosomal recessive 79	germline	9	137199473	CACCGCCCTCGCTGACCGGGCTATTAGGTGGCAGAGGCCGTCCTCACCGCCCCCCTTCCTG
587783798	170065	NM_000252.2(MTM1):c.1467+1G>A	MTM1	Jun 06, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150660485	TTCAACTGTGAATCTGCTCGAGAAAGACAGGTGAGTTAAAATGCTATTTTTTTTGATACAT
137853260	25897	NM_000276.3(OCRL):c.1499G>A (p.Arg500Gln)	OCRL	Aug 27, 2014	MedGen:C0028860,OMIM:309000,Orphanet:ORPHA534,SNOMED CT:79385002	Lowe syndrome	germline	X	129569296	GGAAATGCCGGGTTCCAGCCTGGTGTGACCGAATTCTTTGGAGAGGAACAAATGTTAATCA
104886103	35729	NM_000495.4(COL4A5):c.1243G>A (p.Gly415Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591135	AGGGGTCAGAAAGGTGATGAAGGACCACCTGGAATTTCCATTCCTGGACCTCCTGGACTTG
121918062	15111	NM_000374.4(UROD):c.942G>A (p.Glu314=)	UROD	Nov 01, 1998	MedGen:C0268323,OMIM:176100,SNOMED CT:59229005	Familial porphyria cutanea tarda	germline	1	45015006	CCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGT
1800450	29389	NM_000242.2(MBL2):c.161G>A (p.Gly54Asp)	MBL2	Oct 01, 2004	MedGen:C1835140,OMIM:614372	Mannose-binding protein deficiency	germline;unknown	10	52771475	ACGGCTTCCCAGGCAAAGATGGGCGTGATGGCACCAAGGGAGAAAAGGGGGAACCAGGTAC
387906553	31783	NM_001972.3(ELANE):c.214G>A (p.Val72Met)	ELANE	Oct 01, 2000	MedGen:C1859966,OMIM:202700	Severe congenital neutropenia autosomal dominant	germline	19	853022	CCCAACTTCGTCATGTCGGCCGCGCACTGCGTGGCGAATGTGTGAGTAGCCGGGAGTGTGC
137852596	24892	NM_000044.4(AR):c.1732G>A (p.Gly578Arg)	AR	Oct 01, 2001	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67643371	TCTGGGTGTCACTATGGAGCTCTCACATGTGGAAGCTGCAAGGTCTTCTTCAAAAGAGCCG
397509370	32241	NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)	COL3A1	Jul 01, 1990	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188994595	AAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTT
28933681	25331	NM_000132.3(F8):c.5710G>A (p.Glu1904Lys)	F8	Dec 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904401	GAATTTGCTCTGTTTTTCACCATCTTTGATGAGACCAAAAGCTGGTACTTCACTGAAAATA
587779586	107045	NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp)	COL3A1	May 06, 2015	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188994307	GGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAG
104886297	36111	NM_000495.4(COL4A5):c.4787G>A (p.Gly1596Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694905	GTCCTCAGGGATGGGATTCTCTGTGGATTGGTTATTCCTTCATGATGGTATTTTACACTCT
-1	444452	NM_007327.3(GRIN1):c.1930G>A (p.Val644Met)	GRIN1	Sep 13, 2017	MedGen:CN517202	not provided	germline	9	137162656	ATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCT
121912757	32821	NM_000342.3(SLC4A1):c.1937G>A (p.Arg646Gln)	SLC4A1	Jan 01, 2000	na	SWANN BLOOD GROUP ANTIGEN	germline	17	44254616	ATGGCTTCAAGGTGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGCTTGCG
1057520298	380136	NM_018684.3(ZC4H2):c.225+5G>A	ZC4H2	Mar 02, 2017	MedGen:C0796200,OMIM:314580,Orphanet:ORPHA3454	Wieacker syndrome	germline	X	64921812	GACTGATCCACGCTGACATCAATGTGGTACGTGGCTGCCTGGAGCCTATCTCTAAAGCCTT
267607190	15822	NM_213595.3(ISCU):c.149G>A (p.Gly50Glu)	ISCU	Mar 03, 2016	MedGen:C1850718,OMIM:255125,Orphanet:ORPHA43115	Myopathy with lactic acidosis, hereditary	germline	12	108564313	TTGATCATTATGAAAATCCTAGAAACGTGGGGTCCCTTGACAAGACATCTAAAAATGTTGG
137853933	34289	NM_004750.4(CRLF1):c.935G>A (p.Arg312His)	CRLF1	Mar 03, 2011	MedGen:C1848947,OMIM:272430	Cold-induced sweating syndrome 1	not provided	19	18596711	AACCCGGCACCGTGTACTTCGTGCAAGTGCGCTGCAACCCCTTTGGCATCTATGGCTCCAA
189923208	269414	NM_001130987.1(DYSF):c.1577-1G>A	DYSF	Dec 21, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71551040	GACCCCTCTGATTGCCACTTGTGTCTCCCAGTGGATGACTACCTGGGCTTCCTCCCCACTT
760956030	432314	NM_001287.5(CLCN7):c.857G>A (p.Arg286Gln)	CLCN7	Apr 20, 2017	MedGen:C1833700,OMIM:166600	Osteopetrosis autosomal dominant type 2	germline	16	1456172	TCGAGTACTTCCGCAGAGACACAGAGAAGCGGGACTTCGTCTCCGCAGGGGCTGCGGCCGG
28934580	27367	NM_199292.2(TH):c.1010G>A (p.Arg337His)	TH	Jan 01, 2000	MedGen:C1854299,OMIM:605407	Segawa syndrome, autosomal recessive	germline	11	2166693	CCCGGGACTTCCTGGCCAGCCTGGCCTTCCGCGTGTTCCAGTGCACCCAGTATATCCGCCA
398123560	99445	NM_001083962.1(TCF4):c.1086G>A (p.Trp362Ter)	TCF4	Apr 27, 2017	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;MedGen:CN517202	Pitt-Hopkins syndrome;not provided	germline	18	55257375	CACTTTAATATCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCT
1060501722	396826	NM_003165.3(STXBP1):c.1434G>A (p.Trp478Ter)	STXBP1	Jun 09, 2016	MedGen:C0393706,Orphanet:ORPHA1934	Early infantile epileptic encephalopathy	germline	9	127678505	CAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTT
368778627	171188	NM_144606.5(FLCN):c.779G>A (p.Trp260Ter)	FLCN	Jun 01, 2014	MedGen:C1868193,OMIM:173600,Orphanet:ORPHA2903	Pneumothorax, primary spontaneous	germline	17	17222501	TGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCT
980578884	237521	NM_006231.3(POLE):c.1420G>A (p.Val474Ile)	POLE	May 25, 2016	MedGen:C3554460,OMIM:615083	Colorectal cancer, susceptibility to, 12	unknown	12	132673217	GTCGCCACTTACTACCTGTACATGAAGTACGTCCACCCATTCATCTTTGCTCTGTGCACCA
-1	480554	NM_007327.3(GRIN1):c.2479G>A (p.Gly827Arg)	GRIN1	Feb 22, 2018	MedGen:C3280282,OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	germline	9	137163794	TTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCT
587784256	169343	NM_000430.3(PAFAH1B1):c.192+1G>A	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2666091	TGGACATCTGTTATTAGATTACAAAAGAAGGTAACTAAGTCTTTTTTCTTTAAAATTAGTT
1057519300	361813	NM_020738.3(KIDINS220):c.4050G>A (p.Trp1350Ter)	KIDINS220	Jan 11, 2017	MedGen:C4284592,OMIM:617296	Spastic paraplegia, intellectual disability, nystagmus, and obesity	germline	2	8733447	AGGTGCCCCTCGTCACAGTAATCTAAGTTGGCAGGTATTTATTGAATGGCATTTTTCATAT
281875215	40290	NM_024110.4(CARD14):c.349G>A (p.Gly117Ser)	CARD14	Nov 25, 2014	MedGen:C1864497,OMIM:602723;MedGen:CN517202	Psoriasis susceptibility 2;not provided	germline	17	80182790	CAGCCTGATGTTGACTTCAGTAACTTTAGCGGTGAGAGCTCCGACTTTGACGGTTTGGCAG
879254448	245435	NM_000527.4(LDLR):c.245G>A (p.Cys82Tyr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102718	ACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCA
1131692272	424494	NM_002285.2(AFF3):c.697G>A (p.Ala233Thr)	AFF3	Oct 10, 2016	MedGen:CN517202	not provided	de novo	2	100006808	AAACCCAGCCTGGTCCAGCAGAAACCGACCGCGTATGTGAGGCCAATGGACGGCCAAGATC
794728106	197023	NM_004415.3(DSP):c.273+1G>A	DSP	Aug 18, 2014	MedGen:CN517202	not provided	germline	6	7555821	TTGATGCGAGCAGAGCTCATCGTGCAGCCTGTAAGCTTTCCCTGTTCCCATCGCTTCTCCC
61736587	39175	NM_006949.3(STXBP2):c.1621G>A (p.Gly541Ser)	STXBP2	Aug 08, 2017	MedGen:C2751293,OMIM:613101;MedGen:CN517202	Hemophagocytic lymphohistiocytosis, familial, 5;not provided	germline	19	7647436	GGCCCCCGGCTCATCGTGTATGTCATGGGCGGTGTGGCCATGTCAGAGATGAGGGCCGCCT
397508413	68203	NM_000492.3(CFTR):c.2645G>A (p.Trp882Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117602851	TCCAGGTGGCTGCTTCTTTGGTTGTGCTGTGGCTCCTTGGAAAGTGAGTATTCCATGTCCT
121913148	29736	NM_000208.3(INSR):c.3059G>A (p.Arg1020Gln)	INSR	Mar 15, 1991	MedGen:C0271690,OMIM:610549,SNOMED CT:9859006	Insulin-resistant diabetes mellitus AND acanthosis nigricans	germline	19	7125482	TGTACGTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGG
121917723	15251	NM_000285.3(PEPD):c.833G>A (p.Gly278Asp)	PEPD	Nov 01, 1996	MedGen:C0268532,OMIM:170100	Prolidase deficiency	germline	19	33401855	CTTCCTCTCTCCGCAGCCTGTTCGACATGGGCGGTGAGTATTACTGCTTCGCTTCCGACAT
587784139	168212	NM_022455.4(NSD1):c.5146+1G>A	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177260169	ATGTTAGCTGGTGCTTTGTGTGCTCAGAAGGTAAGAAATCATTTCTTCCTCTATTTGTAGT
267606686	15182	NM_033409.3(SLC52A3):c.106G>A (p.Glu36Lys)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	765669	GAGCTGCCCCTGCTGGTGATGGAGCTGCCCGAGGGCTGGTACCTGCCCTCCTACCTCACGG
199469644	106404	NM_017415.2(KLHL3):c.1410G>A (p.Trp470Ter)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137634077	GGAGCAGTACAACCCAGCGACCAATGAATGGATATACGTGGCGGACATGAGCACCCGCCGC
777022647	259691	NM_022336.3(EDAR):c.212G>A (p.Cys71Tyr)	EDAR	Dec 11, 2015	MedGen:CN517202	not provided	germline	2	108929342	GCTACGGCACCAAAGACGAGGACTACGGCTGCGTCCCCTGCCCGGCGGAGAAGTTTTCCAA
587777446	141325	NM_022168.3(IFIH1):c.2336G>A (p.Arg779His)	IFIH1	Aug 01, 2017	MedGen:C3888244,OMIM:615846;MedGen:CN517202	Aicardi-goutieres syndrome 7;not provided	germline;maternal	2	162273913	ATGAACAAAAAGAAGTCATTAGTAAATTTCGCACTGGAAAAATAAATCTGCTTATCGCTAC
587777034	76334	NM_001098511.2(KIF2A):c.950G>A (p.Ser317Asn)	KIF2A	Jun 01, 2013	MedGen:C3809414,OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	germline	5	62361319	CTACATGCTTTGCTTATGGGCAGACTGGAAGTGGAAAAACTCATGTAAGTAATTTATTAAA
121908324	19812	NM_015627.2(LDLRAP1):c.65G>A (p.Trp22Ter)	LDLRAP1	May 18, 2001	MedGen:C1863512,OMIM:603813	Hypercholesterolemia, autosomal recessive	germline	1	25543763	TCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGTGAGTG
140826989	187005	NM_000152.4(GAA):c.1548G>A (p.Trp516Ter)	GAA	Oct 20, 2014	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline;unknown	17	80110837	CCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCC
573006534	247578	NM_018480.5(TMEM126B):c.397G>A (p.Asp133Asn)	TMEM126B	Aug 01, 2016	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	11	85634279	AAGCTTTTTGTAATTGATGCTTTGTATTCAGGTGAATTTAAATTCACTAATGTATAACGTA
587784572	171003	NM_004963.3(GUCY2C):c.2008G>A (p.Ala670Thr)	GUCY2C	Aug 13, 2014	MedGen:C0270246,OMIM:614665	Meconium ileus	germline	12	14641142	AAAGGAGATGTGTACAGCTATGGGATCATCGCACAGGAGATCATCCTGCGGAAAGAAACCT
28931594	32059	NM_004004.5(GJB2):c.148G>A (p.Asp50Asn)	GJB2	Jun 16, 2015	MedGen:C2673759,OMIM:220290;MedGen:C1865234,OMIM:602540;MedGen:C1835678,OMIM:148210;MedGen:CN517202	Deafness, autosomal recessive 1A;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;not provided	germline	13	20189434	GCAAAGGAGGTGTGGGGAGATGAGCAGGCCGACTTTGTCTGCAACACCCTGCAGCCAGGCT
28933985	28419	NM_000207.2(INS):c.266G>A (p.Arg89His)	INS	Jun 01, 1998	MedGen:C0342283,OMIM:616214	Hyperproinsulinemia	germline	11	2159919	CCTTGGCCCTGGAGGGGTCCCTGCAGAAGCGTGGCATTGTGGAACAATGCTGTACCAGCAT
372380880	268634	NM_004260.3(RECQL4):c.1259-1G>A	RECQL4	Nov 20, 2015	MedGen:C0032339,OMIM:268400,Orphanet:ORPHA2909,SNOMED CT:69093006	Rothmund-Thomson syndrome	germline	8	144515458	CTCCCATTCTACCCTCTCCTGCCTGCCCCAGCAAGTGAGGAAGACACAGATGCTGTTGGGC
746195428	440175	NM_001080463.1(DYNC2H1):c.7663G>A (p.Val2555Met)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	11	103192219	CTTCATTTATTTGACATCATTTTAACATCAGTGTTTCAAGGAGATTGGGGCTCAGACATAT
267607518	188183	NM_002055.4(GFAP):c.259G>A (p.Val87Ile)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44915228	AATGACCGCTTTGCCAGCTACATCGAGAAGGTTCGCTTCCTGGAACAGCAAAACAAGGCGC
-1	439917	NM_022124.5(CDH23):c.7312G>A (p.Glu2438Lys)	CDH23	Jul 01, 2017	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71799579	GATGCTGACTCAGGCAACTTTGCACTCATTGAGTACAGCCTTGGAGATGGAGAGAGCAAGT
1057519635	362625	NM_001330069.1(PRKD1):c.1798G>A (p.Gly600Arg)	PRKD1	Feb 24, 2017	MedGen:CN240689,OMIM:617364	Congenital heart defects and ectodermal dysplasia	germline	14	29626508	CAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTTATGGAGGTAGGT
-1	434336	NM_000527.4(LDLR):c.2253G>A (p.Arg751=)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11123286	AACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACG
797045222	207660	NM_006412.3(AGPAT2):c.406G>A (p.Gly136Arg)	AGPAT2	Aug 06, 2015	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136677047	CTGGGGCCCGTGGGCCTCATCATGTACCTCGGGGGCGTCTTCTTCATCAACCGGCAGCGCT
72658200	32300	NM_000089.3(COL1A2):c.2575G>A (p.Gly859Ser)	COL1A2	Jan 01, 1994	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	germline	7	94424345	CAGTATTTTTTCTCTATTTAGGGACCTCCTGGCACTCCAGGTCCTCAGGGTCTTCTTGGTG
762352115	229307	NM_001038603.2(MARVELD2):c.1331+1G>A	MARVELD2	Jan 28, 2016	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	5	69432676	TAAACCTATCGTGATGCCCGACTATGTGGCGTGAGTGTCAGTCTGAATTCTTCCTCAAGGT
1085307647	415565	NM_004247.3(EFTUD2):c.1058+1G>A	EFTUD2	Apr 14, 2017	MedGen:CN517202	not provided	germline	17	44868286	CTGGGGTGACATCTACTTCAACCCTAAGACGTAAGTAGAGTATGGGACGTGACTTTCCAGA
121434372	17127	NM_000159.3(GCDH):c.1198G>A (p.Val400Met)	GCDH	Oct 05, 2017	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric aciduria, type 1;not provided	germline;unknown	19	12897818	GGGGGGAATGGGATTTCTGACGAGTATCACGTGATCCGGCACGCCATGAACCTGGAGGCCG
121917756	27647	NM_005343.3(HRAS):c.187G>A (p.Glu63Lys)	HRAS	Mar 21, 2017	MedGen:C1968782;MedGen:CN517202	Myopathy, congenital, with excess of muscle spindles;not provided	germline	11	533869	TTGGACATCCTGGATACCGCCGGCCAGGAGGAGTACAGCGCCATGCGGGACCAGTACATGC
886037945	248801	NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr)	CACNA1A	May 05, 2017	MedGen:C4310716,OMIM:617106;MedGen:CN517202	Epileptic encephalopathy, early infantile, 42;not provided	germline;unknown	19	13303584	GACACCCTCCTGAATGTGTTCTTGGCCATCGCTGTGGACAATCTGGCCAACGCCCAGGAGC
137852874	17419	NM_000709.3(BCKDHA):c.745G>A (p.Gly249Ser)	BCKDHA	May 22, 1998	MedGen:C1855369	Maple syrup urine disease type 1A	germline	19	41422262	GGGGCAGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCC
267607028	24293	NM_001037.4(SCN1B):c.448+88G>A	SCN1B	Nov 07, 2011	MedGen:C2748541,OMIM:612838;MedGen:CN517202	Brugada syndrome 5;not provided	germline	19	35033827	ACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACA
587777513	143245	NM_006439.4(MAB21L2):c.145G>A (p.Glu49Lys)	MAB21L2	Jun 05, 2015	MedGen:C4014540,OMIM:615877,Orphanet:ORPHA424099	Microphthalmia/coloboma and skeletal dysplasia syndrome	de novo;germline	4	150583174	TCGGACGTGCTCAAGGAAGTGGAGGTGCAGGAGCCTCGCTTCATCAGCTCCTTGAGCGAGA
281864962	47688	NM_024312.4(GNPTAB):c.637-1G>A	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101780287	AAAATGAGTTATGTTTTTCCCCTTATTTTAGACAACAGATAAAGAAGTCCCTGGATTAGTG
137853114	16049	NM_001031710.2(KLHL7):c.457G>A (p.Ala153Thr)	KLHL7	Sep 23, 2011	MedGen:C2751986,OMIM:612943	Retinitis pigmentosa 42	germline	7	23140783	TTCTTTCTGTGTTTAGGTATAAGTGTGCTAGCGGAGTGTCTAGATTGTCCTGAATTGAAAG
193922703	44320	NM_020661.3(AICDA):c.251G>A (p.Trp84Ter)	AICDA	Feb 07, 2017	MedGen:C1720956,OMIM:605258,Orphanet:ORPHA101089;MedGen:CN517202	Immunodeficiency with hyper IgM type 2;not provided	germline	12	8605391	GCTGCTACCGCGTCACCTGGTTCACCTCCTGGAGCCCCTGCTACGACTGTGCCCGACATGT
121918416	31109	NM_001146040.1(GLRA1):c.862G>A (p.Val288Met)	GLRA1	Oct 04, 2012	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary	germline	5	151851440	CCTGCTCGTGTGGGCCTAGGCATCACCACTGTGCTCACCATGACCACCCAGAGCTCCGGCT
1057521920	415635	NM_001127221.1(CACNA1A):c.526G>A (p.Val176Met)	CACNA1A	Oct 23, 2017	MedGen:CN517202	not provided	germline	19	13452889	AGGAATGGCTGGAATGTCATGGACTTTGTGGTGGTGCTAACGGGGTAAGTGGCGCGTGCTA
373286166	172184	NM_004006.2(DMD):c.1812+1G>A	DMD	Oct 20, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Duchenne muscular dystrophy;not provided	germline	X	32573529	GAAATGTTATCAAGTCTTCAAAAACTGGCCGTATGTACTTTCTAGCTTTCAATGGTCTTAT
141957107	259733	NM_025243.3(SLC19A3):c.1314+1G>A	SLC19A3	Mar 02, 2017	MedGen:CN517202	not provided	germline	2	227688165	AGAGGGCTCAACTTGCCAGTCAGCATTCAGGTAAGCTGCAATACTTCTGTTTTCAACTAGG
121917986	79429	NM_006920.4(SCN1A):c.4135G>A (p.Val1379Met)	SCN1A	Aug 04, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline;unknown	2	166002588	ACAACTGGTGACAGGTTTGACATCGAAGACGTGAATAATCATACTGATTGCCTAAAACTAA
121918587	28099	NM_000324.2(RHAG):c.836G>A (p.Gly279Glu)	RHAG	Sep 01, 1998	MedGen:C4016364	Rh-null hemolytic anemia, regulator type	germline	6	49612506	AGGTTCACATTCAGAATGCCACCCTTGCTGGAGGAGTTGCTGTGGGCACTTGTGCGGATAT
1057516454	371519	NM_000543.4(SMPD1):c.1264-1G>A	SMPD1	Apr 07, 2015	MedGen:CN517202	not provided	germline	11	6393616	CCTGATTACCATCCTTAATTCTCCCTACTAGGTGCATATAATTGGCCACATTCCCCCAGGG
1064793732	406150	NM_006218.3(PIK3CA):c.1093G>A (p.Glu365Lys)	PIK3CA	Jun 25, 2015	MedGen:CN517202	not provided	germline	3	179204536	TATGTTCGAACAGGTATCTACCATGGAGGAGAACCCTTATGTGACAATGTGAACACTCAAA
797045145	205545	NM_000410.3(HFE):c.506G>A (p.Trp169Ter)	HFE	Sep 17, 2015	MedGen:C3469186,OMIM:235200	Hemochromatosis type 1	germline	6	26091479	AACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAA
1057519090	361902	NM_001846.3(COL4A2):c.3490G>A (p.Gly1164Arg)	COL4A2	Jan 01, 2016	MedGen:CN517202	not provided	inherited	13	110492105	CCAGGGCTGACTGGGCCTCCAGGGTCGCAGGGAGAGCTGGGGCGGATTGGACTGCCTGGTG
387906621	38648	NM_001002295.1(GATA3):c.1025G>A (p.Cys342Tyr)	GATA3	Sep 01, 2011	MedGen:C1840333,OMIM:146255,Orphanet:ORPHA2237	Barakat syndrome	germline	10	8069573	ATGCCAATGGGGACCCTGTCTGCAATGCCTGTGGGCTCTACTACAAGCTTCACAATGTAAG
398123070	102599	NM_002700.2(POU4F3):c.977G>A (p.Arg326Lys)	POU4F3	Jan 01, 2013	MedGen:C1865366,OMIM:602459	Deafness, autosomal dominant 15	germline	5	146340404	ACGTGGTGAGAGTCTGGTTCTGCAACCAGAGACAGAAACAGAAACGAATGAAGTATTCGGC
34940801	17811	NM_024312.4(GNPTAB):c.3335+1G>A	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	germline	12	101757571	CAAAGCATATAAGGACAAAAACAAATATAGGTAAGTAGTACACGCATACTCCCTTTGTTTA
72558450	103226	NM_000531.5(OTC):c.806G>A (p.Gly269Glu)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408964	TATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGAAGAAAAAGCGGCTCCA
-1	434136	NM_174936.3(PCSK9):c.142G>A (p.Glu48Lys)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55039979	TACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGC
121918000	28701	NM_000478.5(ALPL):c.535G>A (p.Ala179Thr)	ALPL	Aug 01, 2014	Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Infantile hypophosphatasia	germline;unknown	1	21564103	GTGAACCATGCCACCCCCAGCGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAG
397509369	32238	NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser)	COL3A1	Jan 25, 1989	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189002343	ACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTATACAT
587777428	139376	NM_006087.3(TUBB4A):c.1228G>A (p.Glu410Lys)	TUBB4A	Dec 07, 2017	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	de novo;germline	19	6495271	GGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAATGACCTGGTAT
-1	487570	NM_000138.4(FBN1):c.4337-1G>A	FBN1	Jul 15, 2016	MedGen:CN229799	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	germline	15	48470757	AGTTTTTTGCTTTTTTCTCCCTCCCCCCAAGATATTGATGAGTGCTCCCTTCCGAACATCT
587779626	107097	NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988618	AGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAG
387906598	38574	NM_004056.5(CA8):c.710G>A (p.Arg237Gln)	CA8	Sep 21, 2011	MedGen:C2750509,OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	germline	8	60222677	GCAGTGAAGGTGTCACCTGGATATTATTCCGATACCCTTTAACTATATCCCAGCTACAGGT
397514394	36388	NM_000060.4(BTD):c.932G>A (p.Ser311Asn)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644788	TCCACCACCCAGTTCTGGGGATGACAGGAAGTGGCATACACACCCCTCTGGAGTCCTTTTG
886044555	275011	NM_001844.4(COL2A1):c.1636G>A (p.Gly546Ser)	COL2A1	Apr 19, 2017	Human Phenotype Ontology:HP:0002655,MedGen:C0038015,OMIM:183900,Orphanet:ORPHA253;MedGen:CN517202	Spondyloepiphyseal dysplasia congenita;not provided	germline	12	47985772	AGTGGTCTTGCTGGCCCCAAGGGAGCCAACGGTGACCCTGGCCGTCCTGGAGAACCTGGCC
398123131	98285	NM_000050.4(ASS1):c.794G>A (p.Arg265His)	ASS1	Sep 01, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline;unknown	9	130480405	CTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGG
63750828	96748	NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr)	MSH2	Oct 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I;not provided	germline	2	47416351	CTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAACCCCTCAAGGACAAAGACTTGTTAA
121908348	19958	NM_022124.5(CDH23):c.6133G>A (p.Asp2045Asn)	CDH23	Jan 01, 2001	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71791215	CCCATCCTGGAGCTGCTGCTGCTGGCTGAGGACATCGGGCTGCTCAACAGCACGGCCCACC
-1	481777	NM_014491.3(FOXP2):c.1267-1G>A	FOXP2	Nov 30, 2017	MedGen:CN517202	not provided	germline	7	114658065	TTTTTCCTGCCCTTCTCTTGGGCCTTTGCAGCTAAATCTGGTGTCTAGTGTCACCATGTCG
137962929	395637	NM_198428.2(BBS9):c.263+1G>A	BBS9	Oct 24, 2016	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	germline	7	33152852	ACTTCAAGTGGAAGTAGGAAAGTTTGTTTCGTAAGTAAGCCCACTAATTCTGGTATTTTAC
200440536	445267	NM_000693.3(ALDH1A3):c.537+5G>A	ALDH1A3	Nov 04, 2015	MedGen:CN517202	not provided	germline	15	100893011	TTGGTGTCTGTGGGGCCATCACTCCAGTAAGTATGGCAGCCTTTCTCAGTAGATTCTATGT
121908622	21061	NM_005476.5(GNE):c.797G>A (p.Arg266Gln)	GNE	Oct 18, 2012	MedGen:C0342853,OMIM:269921,Orphanet:ORPHA3166,SNOMED CT:238051008	Sialuria	germline	9	36234105	TAGGGAGCAAAGAGATGGTTCGAGTGATGCGGAAGAAGGGCATTGAGCATCATCCCAACTT
121907964	18950	NM_000520.5(HEXA):c.78G>A (p.Trp26Ter)	HEXA	Jan 01, 1993	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72375895	CGCAGGACGGGCGACGGCCCTCTGGCCCTGGCCTCAGAACTTCCAAACCTCCGACCAGCGC
118192160	76840	NM_000540.2(RYR1):c.178G>A (p.Asp60Asn)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38442361	ATCCCCCTCCCACCCCAGAATGTGCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGC
1064796543	408528	NM_015335.4(MED13L):c.5589-1G>A	MED13L	Feb 27, 2017	MedGen:CN517202	not provided	germline	12	115975314	CCTTCCCCTTCCCCATTTCTTTATTTGTTAGGTCACGGAGGAGTAAAGTATCTGCACGTAA
312262864	49479	NM_003611.2(OFD1):c.1100G>A (p.Arg367Gln)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13753412	TGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAGG
-1	443652	NM_000414.3(HSD17B4):c.1438-1G>A	HSD17B4	Nov 17, 2015	MedGen:CN517202	not provided	germline	5	119514980	TAAGATTTAACATGTAATGTCTTAATTTTAGGTAGCTGTAGCCATACCTAATAGACCTCCT
606231203	27810	NM_002354.2(EPCAM):c.491+1G>A	EPCAM	Jul 01, 2013	MedGen:C2750737,OMIM:613217,Orphanet:ORPHA92050	Diarrhea 5, with tufting enteropathy, congenital	germline	2	47375300	AAAACCTTATGATAGTAAAAGTTTGCGGACGTAAGTGCAATTAAATGCATCATATTCTTGC
869025343	223780	NM_001145408.1(NONO):c.1131G>A (p.Ala377=)	NONO	Sep 21, 2016	MedGen:C4225417,OMIM:300967,Orphanet:ORPHA466791;MedGen:CN517202	Mental retardation, X-linked, syndromic 34;not provided	germline	X	71297938	GGAAGGATTCAAGGGAACCTTCCCTGATGCGGTATATCTCCCATGTGCCCGTGATGTACCA
786205224	188075	NM_021728.3(OTX2):c.259G>A (p.Glu87Lys)	OTX2	Sep 01, 2016	MedGen:C1864690,OMIM:610125,Orphanet:ORPHA178364;MedGen:CN517202	Microphthalmia syndromic 5;not provided	germline	14	56804202	GAGGAGGTGGCACTGAAAATCAACTTGCCCGAGTCGAGGGTGCAGGTAGGGCAGATGCAGG
886039574	259910	NM_002316.3(LMX1B):c.227G>A (p.Trp76Ter)	LMX1B	Jul 10, 2017	MedGen:CN517202	not provided	germline	9	126615470	GCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTG
397515942	51761	NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter)	MYBPC3	Jan 18, 2012	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47339670	TCTCTGGGGACCCTGCTCCCACTGTGATCTGGCAGAAGGCTATCACGCAGGTACTGTGGGT
180177156	186663	NM_000030.2(AGXT):c.1049G>A (p.Gly350Asp)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240878128	TAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGG
121918686	27591	NM_001128177.1(THRB):c.1033G>A (p.Gly345Ser)	THRB	May 01, 1994	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127610	GCAGTGACACGGGGCCAGCTGAAAAATGGGGGTCTTGGGGTGGTGTCAGACGCCATCTTTG
137853217	31039	NM_002890.2(RASA1):c.1619G>A (p.Cys540Tyr)	RASA1	Dec 01, 2003	MedGen:C1842180,OMIM:608354,Orphanet:ORPHA137667	Capillary malformation-arteriovenous malformation	germline	5	87369821	AATTTTTGTTTTTATTTTAAAGGCCAAACTGTTTTCAGATAGTAGTTCAGCACTTTAGTGA
886037661	107273	NM_001013703.3(EIF2AK4):c.860-1G>A	EIF2AK4	Feb 01, 2014	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	39965685	GATTTAATTACACTTTCTGTTTAATGTGCAGGCAGTGATGAACAACTTGGAAAATTAGTCT
397515854	51599	NM_000138.4(FBN1):c.7606G>A (p.Gly2536Arg)	FBN1	Aug 05, 2016	MedGen:CN229799;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome;not provided	germline	15	48421651	AATGAATGCACCTCTGACATCAATCTGTGCGGGTCTAAGGGCATTTGCCAGAACACTCCTG
397514031	15874	NM_000038.5(APC):c.423-1G>A	APC	Apr 25, 2016	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112775628	AACGTACCTTTTTTTAAAAAAAAAAAAATAGGTCATTGCTTCTTGCTGATCTTGACAAAGA
1057518922	360814	NM_000329.2(RPE65):c.1338+1G>A	RPE65	Nov 14, 2014	Human Phenotype Ontology:HP:0000512,MedGen:C1849688;Human Phenotype Ontology:HP:0000504,MedGen:C4025846;Human Phenotype Ontology:HP:0007875,MedGen:C0005754;Human Phenotype Ontology:HP:0000546,MedGen:C0035304	Abnormal electroretinogram;Abnormality of vision;Congenital blindness;Retinal degeneration	unknown	1	68431281	CTTGGCTTGAATCACTTTGTTCCAGATAGGGTAATTAATCCTTCTTACTAATATTTGAACA
199474738	79199	NM_001042492.2(NF1):c.1885G>A (p.Gly629Arg)	NF1	Oct 19, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1;not provided;not specified	germline	17	31225134	AGAAGTTCCTGTCACTTTCTCCTTTTTTACGGGGTAGGATGTGATATTCCTTCTAGTGGAA
121912581	36168	NM_005359.5(SMAD4):c.1054G>A (p.Gly352Arg)	SMAD4	Dec 04, 2012	na;MedGen:C1832942,OMIM:175050;MedGen:CN517202	JP and JP/HHT;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;not provided	germline	18	51065521	CCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGATCGCT
121912430	29828	NM_001111284.1(IGF1):c.226G>A (p.Val76Met)	IGF1	May 01, 2005	MedGen:C1837475,OMIM:608747,Orphanet:ORPHA73272	Insulin-like growth factor I deficiency	germline	12	102419637	AGCAGTCGGAGGGCGCCTCAGACAGGCATCGTGGATGAGTGCTGCTTCCGGAGCTGTGATC
104894858	25021	NM_002294.2(LAMP2):c.928G>A (p.Val310Ile)	LAMP2	May 31, 2017	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006;MedGen:CN517202	Danon disease;not provided	germline	X	120442599	AACATCAGCATGTATTTGGTTAATGGCTCCGGTAAGCAAAGCACTGGCCTGGGGAAAAAGA
527236103	152798	NM_000539.3(RHO):c.520G>A (p.Gly174Ser)	RHO	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	3	129531034	GCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGCAGAAG
119455956	17684	NM_000391.3(TPP1):c.1340G>A (p.Arg447His)	TPP1	Aug 18, 2015	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349;MedGen:CN517202	Ceroid lipofuscinosis neuronal 2;not provided	germline	11	6615256	CACCATCCAGTTACTTCAATGCCAGTGGCCGTGCCTACCCAGATGTGGCTGCACTTTCTGA
587777187	106813	NM_176787.4(PIGN):c.963G>A (p.Gln321=)	PIGN	Mar 04, 2014	MedGen:C3279775,OMIM:614080,Orphanet:ORPHA280633	Multiple congenital anomalies-hypotonia-seizures syndrome 1	germline	18	62143306	GGAGAATTGGAAGAGGCTAGATGTCAATCAGGTATCCAGTTCGATTTTATTACATTCAAAT
398123770	100174	NM_003494.3(DYSF):c.1481-1G>A	DYSF	Sep 28, 2012	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71549349	CTAACCCCTTTTCCATTTCTTTACGCTTCAGAGGAGCCTGCAGGTGCTGTCAAGCCTTCGA
-1	444818	NM_000256.3(MYBPC3):c.2067+1G>A	MYBPC3	Aug 09, 2017	MedGen:CN517202	not provided	germline	11	47339650	ACTGTGATCTGGCAGAAGGCTATCACGCAGGTACTGTGGGTCCCTCCTCAGTCTCCCCATC
387907053	39876	NM_152722.4(HEPACAM):c.265G>A (p.Gly89Ser)	HEPACAM	Mar 07, 2016	MedGen:C3151355,OMIM:613925;MedGen:C3151356,OMIM:613926;MedGen:CN517202	Megalencephalic leukoencephalopathy with subcortical cysts 2a;Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation;not provided	germline	11	124924890	GTGGTGCAGTCCATTGGCACAGAGGTCATCGGCACCCTGCGGCCTGACTATCGAGACCGTA
1064796419	407276	NM_000089.3(COL1A2):c.1054G>A (p.Gly352Ser)	COL1A2	Feb 24, 2017	MedGen:CN517202	not provided	germline	7	94410260	ATTGAACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTG
893256143	372861	NM_000545.6(HNF1A):c.599G>A (p.Arg200Gln)	HNF1A	Jun 09, 2016	MedGen:CN517202	not provided	germline	12	120993592	CAGGTGATGAGCTACCAACCAAGAAGGGGCGGAGGAACCGTTTCAAGTGGGGCCCAGCATC
794727143	191663	NM_003482.3(KMT2D):c.4265G>A (p.Trp1422Ter)	KMT2D	Apr 22, 2015	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49046762	AGATCACCAAGGTGATGCTGCTCAAGGGCTGGCGTTGTGTGGAGTGTATTGTGTGTGAGGT
730882099	181251	NM_000527.4(LDLR):c.1195G>A (p.Ala399Thr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;not applicable	19	11113286	ACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGG
730880016	132729	NM_207036.1(TCF12):c.1838G>A (p.Arg613His)	TCF12	Sep 02, 2013	MedGen:C3715051,OMIM:615314	Craniosynostosis 3	germline	15	57273122	GGATGGCTAACAATGCCAGAGAACGCTTACGCGTGCGGGATATTAATGAAGCATTCAAAGA
864309730	216034	NM_172250.2(MMAA):c.653G>A (p.Gly218Glu)	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145646076	TCAGGCCATCTCCTACTAGAGGAACTTTAGGAGGCGTGACAAGGACCACAAATGAAGCTAT
397514567	48319	NM_178012.4(TUBB2B):c.1249G>A (p.Asp417Asn)	TUBB2B	Feb 28, 2013	MedGen:C2750247,OMIM:610031	Polymicrogyria, asymmetric	germline	6	3224840	GAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTACCAGCAGTACCAGG
387906684	38841	NM_021007.2(SCN2A):c.3631G>A (p.Glu1211Lys)	SCN2A	Sep 20, 2017	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927;MedGen:C3150987,OMIM:613721;MedGen:CN517202	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided	de novo;germline	2	165367327	TGCTATAAGATAGTGGAGCACAATTGGTTCGAAACCTTCATTGTCTTCATGATTCTGCTGA
886044252	273992	NM_004369.3(COL6A3):c.6220G>A (p.Gly2074Ser)	COL6A3	Jun 04, 2017	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	2	237360150	TGCCTTTGTCTCTCACAACAGGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTT
587779501	106943	NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006995	GTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTT
137854601	24416	NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys)	SCN5A	Jul 31, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144;MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:C1859062,OMIM:603830;MedGen:C0428908;MedGen:CN517202	Brugada syndrome;Brugada syndrome 1;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 1;Long QT syndrome 3;Sinus node disease;not provided	germline	3	38551022	AACTTCAGCGTGGCCACGGAGGAGAGCACCGAGCCCCTGAGTGAGGACGACTTCGATATGT
80356703	33889	NM_000083.2(CLCN1):c.1013G>A (p.Arg338Gln)	CLCN1	Mar 29, 2017	MedGen:C0027127,Orphanet:ORPHA206973;MedGen:CN517202	Myotonia congenita;not provided	germline	7	143331265	CCATCACTGCTCTGTTCAGAACCAATTTCCGAATGGATTTCCCCTTTGACCTGAAGGAACT
137852963	19591	NM_153638.3(PANK2):c.1412G>A (p.Ser471Asn)	PANK2	Aug 01, 2001	MedGen:C0018523,OMIM:234200,Orphanet:ORPHA157850,SNOMED CT:2992000	Pigmentary pallidal degeneration	germline	20	3912634	TTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATAC
794728166	197800	NM_000138.4(FBN1):c.1421G>A (p.Cys474Tyr)	FBN1	Feb 09, 2014	MedGen:CN517202	not provided	germline	15	48515434	GCTGCATTCCAACTCCTGGGAGTTACCGGTGTGAGTGCAACAAAGGGTTCCAGCTGGACCT
121912494	29561	NM_170707.3(LMNA):c.1585G>A (p.Ala529Thr)	LMNA	Nov 01, 2007	MedGen:C0432291,OMIM:248370,Orphanet:ORPHA2457,SNOMED CT:109419009;MedGen:CN517202	Mandibuloacral dysostosis;not provided	germline	1	156137209	ACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTA
117642173	21106	NM_004260.3(RECQL4):c.1391-1G>A	RECQL4	Jan 31, 2000	MedGen:C0032339,OMIM:268400,Orphanet:ORPHA2909,SNOMED CT:69093006	Rothmund-Thomson syndrome	germline	8	144515243	AAGTCATGGTGATCAACATCTGTGTCTGCAGAGACGCCGGCTGAGGTGTTCCAGGCCCTGG
121908639	21366	NM_000050.4(ASS1):c.970G>A (p.Gly324Ser)	ASS1	Jul 24, 2017	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline;unknown	9	130489464	GGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTA
397509376	32261	NM_000090.3(COL3A1):c.1869+5G>A	COL3A1	Jan 01, 1995	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997394	GACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATA
879255708	247725	NM_014191.3(SCN8A):c.4873G>A (p.Gly1625Arg)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51806359	CTATTCCGAGTCATCCGATTGGCCCGTATTGGGCGCATCTTGCGTCTGATCAAAGGCGCCA
121909794	22789	NM_001017535.1(VDR):c.149G>A (p.Arg50Gln)	VDR	Sep 01, 1991	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47865175	CAGGGCAGGGTGTGTGCTCTCTCGGCAGGCGAAGCATGAAGCGGAAGGCACTATTCACCTG
893198212	451194	NM_000104.3(CYP1B1):c.1302G>A (p.Trp434Ter)	CYP1B1	May 03, 2017	Human Phenotype Ontology:HP:0000557,MedGen:C0020302,OMIM:231300,Orphanet:ORPHA98976	Buphthalmos	germline	2	38071052	GTGGTCTGTGAATCATGACCCACTGAAGTGGCCTAACCCGGAGAACTTTGATCCAGCTCGA
796052618	203798	NM_172107.3(KCNQ2):c.431G>A (p.Arg144Gln)	KCNQ2	Jun 23, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	de novo;germline	20	63445321	TCGTGGTGTTTGGCGTGGAGTACTTCGTGCGGATCTGGGCCGCAGGCTGCTGCTGCCGGTA
794728375	197238	NM_000238.3(KCNH2):c.1946-1G>A	KCNH2	Jul 23, 2013	MedGen:CN517202	not provided	germline	7	150951121	GGCTGACGGCCCCACGTGCCCACGCCCCCAGCCCTCATGTATGCTAGCATCTTCGGCAACG
1060499991	398357	NM_130799.2(MEN1):c.1412G>A (p.Trp471Ter)	MEN1	Apr 19, 2016	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Multiple endocrine neoplasia, type 1	germline	11	64804755	AGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCG
-1	444803	NM_207122.1(EXT2):c.1182G>A (p.Trp394Ter)	EXT2	Oct 23, 2017	MedGen:CN517202	not provided	germline	11	44171619	AACAGCATTATTTTCTTTATAGGCCCGGTGGTTCTGGGAAGCGTACTTCCAGTCAATTAAA
312262740	49712	NM_025137.3(SPG11):c.2316+1G>A	SPG11	Aug 02, 2016	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	germline	15	44622727	ACAACTAATAAAAATATACGTGACTTTTTGGTAGGTAAAGGTGAGACTACATAGTATACAT
587777785	166196	NM_032374.4(APOPT1):c.163-1G>A	APOPT1	Sep 04, 2014	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	14	103571622	TCATATGTTAATCCAATTTACTTTGTTAAAGGTCTCAAGATTCTGCCCTCCAAGAAAGTCT
886037825	260502	NM_001711.5(BGN):c.238G>A (p.Gly80Ser)	BGN	May 10, 2017	MedGen:C4310811,OMIM:300989;MedGen:CN118826,Orphanet:ORPHA91387	Meester-loeys syndrome;Thoracic aortic aneurysm and aortic dissection	germline;maternal	X	153504869	CACCTGCGGGTGGTTCAGTGCTCCGACCTGGGTTTGTCCCTGAGTGATGGGGAGCGGGGCA
121918585	28107	NM_006744.3(RBP4):c.278G>A (p.Gly93Asp)	RBP4	Jan 01, 1999	MedGen:C3554593,OMIM:615147,Orphanet:ORPHA352718	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	germline	10	93600470	GTAACTGGGACGTGTGCGCAGACATGGTGGGCACCTTCACAGACACCGAGGACCCTGCCAA
1131690832	420616	NM_144997.5(FLCN):c.1062+1G>A	FLCN	Dec 16, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	17219018	GTCTTCAAGTCCCTCCGGCACATGAGGCAGGTAGGCGGCAGGGGCACAGCGCATCAGGAGC
886039507	394347	NM_000038.5(APC):c.1312+5G>A	APC	Jun 17, 2017	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112819349	AGGCATGGACCAGGACAAAAATCCAAGTATGTTCTCTATAGTGTACATCGTAGTGCATGTT
121913348	29003	NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu)	BRAF	May 13, 2016	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Carcinoma of colon;Chronic lymphocytic leukemia;Neoplasm;Rasopathy;not provided	germline;somatic;unknown	7	140781617	ATGGGCAGATTACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGGG
121909127	22675	NM_013435.2(RAX):c.575G>A (p.Arg192Gln)	RAX	Feb 01, 2004	MedGen:C1970237,OMIM:611038	Microphthalmia, isolated 3	germline	18	59269470	TGTGGTTCCAGAACCGACGGGCTAAGTGGCGGCGGCAGGAGAAGCTGGAAGTGTCCTCCAT
28938170	359622	NM_003023.4(SH3BP2):c.1258G>A (p.Gly420Arg)	SH3BP2	Nov 14, 2016	MedGen:CN517202	not provided	germline	4	2831587	CCCTGCCCCTCCAGGCGATCACCCCCCGATGGGCAGAGTTTCAGGAGCTTCTCCTTTGAAA
137852209	25824	NM_194277.2(FRMD7):c.252G>A (p.Val84=)	FRMD7	Nov 01, 2006	MedGen:C1839580,OMIM:310700	Infantile nystagmus, X-linked	germline	X	132097298	TTTCAAATTTATGGTGAAATTTTTCCCAGTGGACCCTGGACATCTGCGGGAAGAACTTACA
727504241	175482	NM_000257.3(MYH7):c.2198G>A (p.Gly733Glu)	MYH7	Sep 25, 2014	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	14	23425783	GCATCCTGAACCCAGCGGCCATCCCTGAGGGACAGTTCATTGATAGCAGGAAGGGGGCAGA
121918622	27921	NM_006920.4(SCN1A):c.4910G>A (p.Arg1637His)	SCN1A	Jul 10, 2015	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	germline	2	165992332	TCCGTCTTGCTAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGCAAAGGGGATCCGCAC
121908889	21460	NM_003060.3(SLC22A5):c.506G>A (p.Arg169Gln)	SLC22A5	Nov 29, 2016	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline	5	132384155	GTCACTCTCCTTTTCTTCCCAGGTTTGGCCGGAAGAATGTGCTGTTCGTGACCATGGGCAT
200491579	264796	NM_000359.2(TGM1):c.377G>A (p.Arg126His)	TGM1	Mar 04, 2016	MedGen:CN517202	not provided	germline	14	24261826	ACTTGCTGAGCTCGCGCTCGGACCAGAACCGCCGAGAGCACCACACAGACGAGTATGAGTA
121912685	33209	NM_001134.2(AFP):c.543G>A (p.Trp181Ter)	AFP	Mar 01, 2009	MedGen:C1863081,OMIM:615969,Orphanet:ORPHA168612	Alpha-fetoprotein deficiency	germline	4	73442356	CTTCCTGTATGCACCTACAATTCTTCTTTGGGCTGCTCGCTATGACAAAATAATTCCATCT
879255594	227008	NM_130837.2(OPA1):c.1369G>A (p.Val457Met)	OPA1	Aug 18, 2016	MedGen:C0221061,OMIM:210000,Orphanet:ORPHA1239,SNOMED CT:66988006	Abortive cerebellar ataxia	germline	3	193643436	CAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATGTAAGTATATACAAAACATGTA
121912925	32266	NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser)	COL3A1	Nov 26, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999560	CCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGTGTTGACTTGTT
886038949	258845	NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr)	FBN1	Jul 14, 2014	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48428459	TTCAATAAAATCAAACAGATGAGAATGAATGTCAGACGAAGCCAGGGATCTGTGAGAATGG
201128942	263760	NM_153816.5(SNX14):c.1108G>A (p.Glu370Lys)	SNX14	Nov 14, 2016	MedGen:C4225355,OMIM:616354,Orphanet:ORPHA397709	Spinocerebellar ataxia, autosomal recessive 20	germline	6	85547112	GTGCACGTGTTGCAGTTTTGTTTGACTGTGGGTGAGGCTTACCTGTGTATTTTACGAAAGT
121909301	23205	NM_000436.3(OXCT1):c.971G>A (p.Gly324Glu)	OXCT1	Sep 01, 2000	MedGen:C0342792,OMIM:245050,Orphanet:ORPHA832,SNOMED CT:238004006	Succinyl-CoA acetoacetate transferase deficiency	germline	5	41803148	ATCTTTTTTTTCCAGCTAATTTGGGCATAGGAATCCCTCTCCTGGCCAGCAATTTTATCAG
104893860	23127	NM_153427.2(PITX2):c.399G>A (p.Trp133Ter)	PITX2	Dec 01, 1996	MedGen:C3714873,OMIM:180500	Axenfeld-Rieger syndrome type 1	germline	4	110618542	CATGTACCCAGGCTATTCCTACAACAACTGGGCCGCCAAGGGCCTTACATCCGCCTCCCTA
74315389	23428	NM_000557.4(GDF5):c.1471G>A (p.Glu491Lys)	GDF5	Sep 01, 2006	MedGen:C3809104,OMIM:615298	Symphalangism, proximal, 1b	germline	20	35433944	TCTGCCAACAACGTGGTGTATAAGCAGTATGAGGACATGGTCGTGGAGTCGTGTGGCTGCA
864622488	485309	NM_000455.4(STK11):c.923G>A (p.Trp308Ter)	STK11	Oct 31, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	1222987	AGGCGCCACTGCTTCTGGGCGTTTGCAGCTGGTTCCGGAAGAAACATCCTCCGGCTGAAGC
727504742	176316	NM_002294.2(LAMP2):c.1093+1G>A	LAMP2	May 10, 2016	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006;MedGen:CN517202	Danon disease;not provided	germline	X	120441729	TCAATGTGACACAAGGAAAGTATTCTACAGGTAAGAATCAAGCAAACTTCATTAATAATTT
28937320	24300	NM_001166107.1(HMGCS2):c.160G>A (p.Val54Met)	HMGCS2	Apr 01, 2003	MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency	germline	1	119764571	CTGGCCAAAACAGATACTTGGCCAAAGGACGTGGGCATCCTGGCCCTGGAGGTCTACTTCC
121913638	29144	NM_000257.3(MYH7):c.2146G>A (p.Gly716Arg)	MYH7	Jun 19, 2017	MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202;MedGen:CN169374	Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided;not specified	germline	14	23425980	AGGAAAGGCTTCCCCAACCGCATCCTCTACGGGGACTTCCGGCAGAGGTGGGTATGAGGGT
745516434	263973	NM_002016.1(FLG):c.2427G>A (p.Trp809Ter)	FLG	Jun 28, 2016	MedGen:CN517202	not provided	germline	1	152312459	TCATAAACAGTCTGAGTCCTCCCATGGATGGACAGGGCCCAGCACTGGAGTAAGACAAGGA
5030849	15621	NM_000277.2(PAH):c.782G>A (p.Arg261Gln)	PAH	Aug 10, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852875	CTCGGGATTTCTTGGGTGGCCTGGCCTTCCGAGTCTTCCACTGCACACAGTACATCAGACA
777066716	371307	NM_203447.3(DOCK8):c.2971-1G>A	DOCK8	Apr 21, 2015	MedGen:CN517202	not provided	germline	9	396784	ATGTTGACATTTCCTCCATCCCCCTCCGCAGGTGAAAAGCATGGCCCAGCACGTACATAAC
113993982	27031	NM_002863.4(PYGL):c.1768+1G>A	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	germline	14	50912155	ACTGTCTGCATGTGATCACGATGTACAACCGTGAGTCAGCCCTGTAGCCAACAAGCCCCCT
730881495	180825	NM_007294.3(BRCA1):c.4987-1G>A	BRCA1	Apr 05, 2017	MedGen:C2676676,OMIM:604370;MedGen:CN517202;MedGen:CN169374	Breast-ovarian cancer, familial 1;not provided;not specified	germline;unknown	17	43067696	CATGATAATGGAATATTTGATTTAATTTCAGATGCTCGTGTACAAGTTTGCCAGAAAACAC
267606746	32221	NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg)	COL6A1	May 17, 2017	MedGen:CN033863,OMIM:254090;MedGen:CN517202	Ullrich congenital muscular dystrophy 1;not provided	germline	21	45989120	CGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGAC
121912891	32432	NM_001844.4(COL2A1):c.3508G>A (p.Gly1170Ser)	COL2A1	Jun 01, 2007	MedGen:C0410480,OMIM:608805,SNOMED CT:203476003;Human Phenotype Ontology:HP:0005743,MedGen:C0023234,OMIM:150600,Orphanet:ORPHA2380,SNOMED CT:240241003	Avascular necrosis of the head of femur;Coxa plana	germline	12	47976052	TCTCTCTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAA
137853340	24171	NM_145649.4(GCNT2):c.683G>A (p.Arg228Gln)	GCNT2	Mar 15, 2003	MedGen:C1292164	ADULT i BLOOD GROUP PHENOTYPE	germline	6	10529594	GAGTGCTGCCTCCTGACCACGCTGTTGGACGGACTAAATACGTCCACCAAGAACTGTTAAA
111033595	23006	NM_130838.1(UBE3A):c.2304G>A (p.Trp768Ter)	UBE3A	Jun 05, 2015	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25340219	TATTGTATTTTTTCTCATTAGGGAGTTCTGGGAAATCGTTCATTCATTTACAGATGAACAG
755218546	405663	NM_000463.2(UGT1A1):c.1084G>A (p.Gly362Ser)	UGT1A1	Mar 21, 2017	MedGen:CN517202	not provided	germline	2	233767936	GTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCA
1057521096	367718	NM_000248.3(MITF):c.909G>A (p.Thr303=)	MITF	Dec 06, 2016	MedGen:CN517202	not provided	germline	3	69964897	AGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGGTGAATCGG
587776522	15904	NR_029512.1(MIR96):n.13G>A	MIR96	May 01, 2009	MedGen:C3888123,OMIM:613074	Deafness, autosomal dominant 50	germline	7	129774757	GCACCAGTGCCATCTGCTTGGCCGATTTTGGCACTAGCACATTTTTGCTTGTGTCTCTCCG
868953318	224816	NM_001135055.2(TKT):c.633G>A (p.Trp211Ter)	TKT	Jul 20, 2016	MedGen:C4310751,OMIM:617044	Short stature, developmental delay, and congenital heart defects	germline	3	53233271	CCCTTACTCTCTGCCCCCTGTCCCCAGTTGGCATGCCATCATCGTGGATGGACACAGCGTG
113994106	32459	NM_001845.5(COL4A1):c.1583G>A (p.Gly528Glu)	COL4A1	Mar 08, 2011	MedGen:C2673195,OMIM:611773,Orphanet:ORPHA73229	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	germline	13	110187283	CAGGGCTGATAGGCCAGCCAGGAGCCAAGGGGGAGCCTGGTGAGTTTTATTTCGACTTGCG
-1	455195	NM_000426.3(LAMA2):c.1467+1G>A	LAMA2	Jul 03, 2016	MedGen:CN117977	Laminin alpha 2-related dystrophy	germline	6	129177867	GATCCTTGTTTTGGCCCCTGTATCTGCAAGGTACATTGTTTATTCCAGTAATGTCCCACTG
80358252	18013	NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr)	NPC1	Jan 23, 2015	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline;unknown	18	23561461	CAAGTAATGACAAGGCCCTGGGACTCCTGTGTGGGAAGGACGCTGACGCCTGTAATGCCAC
28935499	25150	NM_000132.3(F8):c.1172G>A (p.Arg391His)	F8	Oct 01, 1989	na	FACTOR VIII (OKAYAMA)	germline	X	154966525	ATGACAACTCTCCTTCCTTTATCCAAATTCGCTCAGTTGCCAAGAAGCATCCTAAAACTTG
1057516053	353953	NM_000089.3(COL1A2):c.1550G>A (p.Gly517Asp)	COL1A2	Jun 22, 2015	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	germline	7	94413129	ACGGTGATAAAGGTCATGCTGGTCTTGCTGGTGCTCGGGTAGGTGCTAACTTGTGTACAGA
397514593	48390	NM_001083614.1(EARS2):c.286G>A (p.Glu96Lys)	EARS2	Nov 20, 2012	MedGen:C3554079,OMIM:614924,Orphanet:ORPHA314051	Combined oxidative phosphorylation deficiency 12	germline	16	23552158	GGGGCAGCGGAGAATATTGAGGACATGCTGGAGTGGGCAGGTAAGCCTGGCAGAGAAAGGA
1057520567	367271	NM_000094.3(COL7A1):c.4928G>A (p.Gly1643Asp)	COL7A1	Apr 28, 2015	MedGen:CN517202	not provided	germline	3	48581129	AGGGTGAAGTTGGAGAGAAAGGTGACGAGGGTCCTCCGGTGAGACTCCTTCCCACTGTGGT
137852442	25313	NM_000132.3(F8):c.5399G>A (p.Arg1800His)	F8	Jan 20, 2017	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008;MedGen:CN169374	Hereditary factor VIII deficiency disease;not specified	germline	X	154904998	TACAGGTAACTTTCAGAAATCAGGCCTCTCGTCCCTATTCCTTCTATTCTAGCCTTATTTC
137853012	20621	NM_001001486.1(ATP2C1):c.910G>A (p.Ala304Thr)	ATP2C1	Jan 01, 2000	MedGen:C0085106,OMIM:169600,Orphanet:ORPHA2841,SNOMED CT:79468000	Familial benign pemphigus	germline	3	130963981	TTTGTATATGTTGGTTATAGTTTGGCTGTAGCAGCAATTCCTGAAGGTCTCCCCATTGTGG
786205109	32859	NM_031226.2(CYP19A1):c.296+1G>A	CYP19A1	Jun 01, 1997	MedGen:C0878680,OMIM:613546,Orphanet:ORPHA91	Aromatase deficiency	germline	15	51236858	CTCTGGAGAGGAAACACTCATTATCAGCAAGTGAGTCTGTTCATAATCGAAGACATACTTT
104894423	17048	NM_000231.2(SGCG):c.787G>A (p.Glu263Lys)	SGCG	Jun 27, 2017	MedGen:C0410173,OMIM:253700,Orphanet:ORPHA353,SNOMED CT:240056002;MedGen:CN517202	Severe autosomal recessive muscular dystrophy of childhood - North African type;not provided	germline	13	23324452	GGTCCCTCTGGCAGCTCACAGAGCCTCTACGAAATCTGTGTGTGTCCAGATGGGAAGCTGT
587783563	169882	NM_178151.2(DCX):c.557G>A (p.Arg186His)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111401138	TTGTGCGCCCCAAGCTGGTTACCATCATCCGCAGTGGGGTGAAGCCTCGGAAGGCTGTGCG
587781629	150997	NM_000059.3(BRCA2):c.1909+1G>A	BRCA2	Jul 13, 2017	MedGen:C2676676,OMIM:604370;MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32333388	CACCACTTACATTTGCAAATGCTGATTCAGGTACCTCTGTCTTTTTTTTTTTGTAAATAGT
386134162	51327	NM_002739.4(PRKCG):c.341G>A (p.Cys114Tyr)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	not provided	19	53889693	GCCTGCATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCT
199472708	67753	NM_000218.2(KCNQ1):c.686G>A (p.Gly229Asp)	KCNQ1	Jan 01, 2014	MedGen:C1837014,OMIM:607554;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Atrial fibrillation, familial, 3;Congenital long QT syndrome;not provided	germline	11	2572015	CCTCAGCCCCACACCATCTCCTTCGCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCT
797044809	204266	NM_000084.4(CLCN5):c.836G>A (p.Trp279Ter)	CLCN5	Sep 25, 2014	MedGen:C1848336,OMIM:300009	Dent disease 1	germline	X	50086359	TCAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGC
28940294	17310	NM_014874.3(MFN2):c.839G>A (p.Arg280His)	MFN2	Apr 07, 2017	MedGen:CN043576;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A;not provided	germline	1	12001423	GGCTCCAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGG
386134134	51301	NM_000096.3(CP):c.146+1G>A	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149221646	TGGGGAAAAGAAACTTATTTCTGTTGACACGTAAGTCACTATTTTTATTGTTTATAGACCA
879254600	245669	NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11105532	CCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGG
869320686	205685	NM_006767.3(LZTR1):c.742G>A (p.Gly248Arg)	LZTR1	Oct 27, 2016	MedGen:C4225280,OMIM:616564;MedGen:CN517202	Noonan syndrome 10;not provided	germline	22	20990476	GACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGT
121912551	29874	NM_000883.3(IMPDH1):c.1057G>A (p.Val353Ile)	IMPDH1	Mar 01, 2002	MedGen:C1867299,OMIM:180105	Retinitis pigmentosa 10	germline	7	128398431	TACCGTCTGGACCTGCTCACCCAGGCGGGCGTCGACGTCATAGTCTTGGTAAGGCCCCCGC
397509422	75121	NM_021971.2(GMPPB):c.1000G>A (p.Asp334Asn)	GMPPB	Jan 01, 2016	MedGen:C3809216,OMIM:615350;MedGen:C3809221,OMIM:615351;MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	germline	3	49721835	ACAGTGCTGGGTGAGGACGTCATAGTTAATGATGAGCTCTACCTCAACGGAGCCAGCGTGC
1060499703	384472	NM_014625.3(NPHS2):c.452-1G>A	NPHS2	-	MedGen:C1868672,OMIM:600995,Orphanet:ORPHA656	Nephrotic syndrome, idiopathic, steroid-resistant	germline	1	179559762	TTATCTGTCACTTCCTCCTCCTCTCTTTTAGGTCTTTTCTTTTTTTTGCCCTGCCTGGATA
763449629	197710	NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys)	FBN1	Jun 30, 2017	MedGen:CN229799;MedGen:CN517202	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;not provided	germline	15	48474369	TGATATAACCTTTTTCTATAAGATCTGGACGAATGTTCCAATGGAACCCATATGTGCAGCC
796052356	202873	NM_017882.2(CLN6):c.665+1G>A	CLN6	May 05, 2014	MedGen:CN517202	not provided	germline	15	68209636	CCTGGTGGCACCCAGTGGCCTGTACTACTGGTGAGTGGACATCAGCATGGGGGCAGAGGCA
886039713	260141	NM_013275.5(ANKRD11):c.1652G>A (p.Trp551Ter)	ANKRD11	Aug 15, 2016	MedGen:CN517202	not provided	germline	16	89284890	AGCACACCAAGCACTGGCGGACAGACAATTGGAAAACCATTTCTTCCCCGGCTTGGTCAGA
137852474	25373	NM_000132.3(F8):c.6968G>A (p.Arg2323His)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154837685	TGAACTCTCTAGACCCACCGTTACTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGGT
121917753	27919	NM_021007.2(SCN2A):c.3956G>A (p.Arg1319Gln)	SCN2A	Apr 27, 2017	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927;MedGen:CN517202	Benign familial neonatal-infantile seizures;not provided	germline	2	165373331	GAGCTCTGAGGCCACTGAGAGCTTTGTCCCGGTTTGAAGGAATGAGGGTAAGACTGAATGC
200934080	411494	NM_032121.5(MAGT1):c.110G>A (p.Trp37Ter)	MAGT1	Jul 14, 2015	MedGen:CN517202	not provided	germline	X	77895397	AAGGGAGAGGAGCGAACATGGCAGCGCGTTGGCGGTTTTGGTGTGTCTCTGTGACCATGGT
63751711	95792	NM_000249.3(MLH1):c.677G>A (p.Arg226Gln)	MLH1	Sep 25, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;not provided	germline;unknown	3	37012099	TTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTT
80359013	46680	NM_000059.3(BRCA2):c.7878G>A (p.Trp2626Ter)	BRCA2	Jun 11, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;somatic;unknown	13	32362595	TAGAATTTGGGTTTATAATCACTATAGATGGATCATATGGAAACTGGCAGCTATGGAATGT
121908479	20819	NM_014270.4(SLC7A9):c.508G>A (p.Val170Met)	SLC7A9	Jan 01, 2005	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001	Cystinuria	germline	19	32862557	GTGTTCATCTCGACAGTGAACTCACTGAGCGTGCGGCTGGGAAGCTACGTCCAGAACATCT
-1	427917	NM_004543.4(NEB):c.1471-1G>A	NEB	Sep 01, 2015	MedGen:CN187052	Nemaline myopathy 2, autosomal recessive	germline	2	151696736	TACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACA
1057520208	364254	NM_000314.6(PTEN):c.254-1G>A	PTEN	Sep 12, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	PTEN hamartoma tumor syndrome;not provided	germline	10	87933012	TTCTTATTCTGAGGTTATCTTTTTACCACAGTTGCACAATATCCTTTTGAAGACCATAACC
281865553	102983	NM_000531.5(OTC):c.1005G>A (p.Met335Ile)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411999	AGAGGCAGAAAACAGAAAGTGGACAATCATGGTAAGCAAGAAACAAGGAATGGAGGATAAG
74315356	17445	NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter)	PINK1	Sep 01, 2008	MedGen:C1853833,OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	germline	1	20649054	AGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGAGCCATCGCCTATGAAATCTTC
11540652	27395	NM_000546.5(TP53):c.743G>A (p.Arg248Gln)	TP53	Jul 17, 2017	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;MedGen:C1836482,OMIM:609265;MedGen:C0346629;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0100242,MedGen:C1261473;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006739,MedGen:C0553723;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Brainstem glioma;Carcinoma of esophagus;Chronic lymphocytic leukemia;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Li-Fraumeni syndrome 2;Malignant Colorectal Neoplasm;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Multiple myeloma;Myelodysplastic syndrome;Neoplasm;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Sarcoma;Small cell lung cancer;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;not provided	germline;maternal;somatic;unknown	17	7674220	GTAACAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCACACTGGA
104894035	28662	NM_004577.3(PSPH):c.94G>A (p.Asp32Asn)	PSPH	Feb 01, 2004	MedGen:C1291463,OMIM:614023,Orphanet:ORPHA79350,SNOMED CT:124432005	Deficiency of phosphoserine phosphatase	germline	7	56021119	GACAGCACGGTCATCAGAGAAGAAGGAATCGATGAGCTAGCCAAAATCTGTGGCGTTGAGG
121912909	32296	NM_000089.3(COL1A2):c.1739G>A (p.Gly580Asp)	COL1A2	Nov 15, 1992	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	7	94415245	GTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAG
267607201	33486	NM_006563.4(KLF1):c.973G>A (p.Glu325Lys)	KLF1	Jan 01, 2013	MedGen:C3150926,OMIM:613673,Orphanet:ORPHA293825	Congenital dyserythropoietic anemia, type IV	germline	19	12885001	GGCTGCGGCTGGAGATTCGCGCGCTCGGACGAGCTGACCCGCCACTACCGGAAACACACGG
121908868	21480	NM_000369.2(TSHR):c.1228G>A (p.Asp410Asn)	TSHR	Dec 01, 1996	MedGen:C3493776,OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1	germline	14	81143286	CCCAAGTCCGATGAGTTCAACCCGTGTGAAGACATAATGGGCTACAAGTTCCTGAGAATTG
1064794242	406610	NM_001182.4(ALDH7A1):c.177G>A (p.Trp59Ter)	ALDH7A1	Apr 05, 2017	MedGen:CN517202	not provided	germline	5	126595022	GGAAAACGAGGGCGTGTATAATGGAAGCTGGGGAGGCCGGGGAGAGGTACGCGGGCGCTCA
180177252	200527	NM_000030.2(AGXT):c.646G>A (p.Gly216Arg)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240874028	GGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGG
786205859	189176	NM_024665.5(TBL1XR1):c.209G>A (p.Gly70Asp)	TBL1XR1	May 29, 2015	MedGen:C0795942,OMIM:270710,OMIM:616944,Orphanet:ORPHA2823	Fitzsimmons-Guilbert syndrome	germline	3	177051722	CTTCTCTCACAATTTTCCAAATCCAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTC
372893383	99078	NM_000512.4(GALNS):c.1559G>A (p.Trp520Ter)	GALNS	Dec 14, 2012	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88814449	CTCCAGAATCCATTCCCAAGAAGTGCCTCTGGTCCCACTAGCACCTGCGCAGACTCAGGCC
587783399	170097	NM_003159.2(CDKL5):c.146-1G>A	CDKL5	Feb 08, 2013	MedGen:C1839333,OMIM:300672	Early infantile epileptic encephalopathy 2	germline	X	18575353	TTTAGTCTCTTCACCATTGTTTACATTCTAGAAAATGAAGAAGTCAAAGAAACGACTTTAC
72645333	32323	NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp)	COL1A1	Oct 03, 1997	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50196651	TCCTGCTTTAGGGTTTCAGTGGTTTGGATGGTGCCAAGGGAGATGCTGGTCCTGCTGGTCC
587779543	106993	NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999533	GCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTC
754786373	424951	NM_015263.3(DMXL2):c.7247G>A (p.Arg2416His)	DMXL2	Aug 07, 2017	MedGen:CN381219,OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71	germline	15	51471365	CTGTCCTTTCTGAAGACATAGATAAACACCGTAGGAGATTTAACATGAGAATGCTCGTCCC
121908305	19357	NM_001005741.2(GBA):c.1090G>A (p.Gly364Arg)	GBA	Mar 07, 2014	MedGen:C0268250,OMIM:230900,Orphanet:ORPHA77260,SNOMED CT:12246008;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Acute neuronopathic Gaucher's disease;Gaucher's disease, type 1	germline	1	155236379	GACTTTCTGGCTCCAGCCAAAGCCACCCTAGGGGAGACACACCGCCTGTTCCCCAACACCA
782175860	360446	NM_152296.4(ATP1A3):c.2116G>A (p.Gly706Arg)	ATP1A3	Oct 19, 2016	MedGen:CN517202	not provided	germline	19	41975776	TCCCTCCAGGGTGCAATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGA
794726836	187774	NM_001165963.1(SCN1A):c.3550+1G>A	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166015606	CTCTTGAACCAGAAGCTTGTTTCACTGAAGGTAAAGAAAAGAATCCTAATGTTAATCTTTC
79891110	32671	NM_000719.6(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Apr 11, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Timothy syndrome;not provided	germline	12	2504944	GTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGAAAAAGGTCTTGA
111033553	32518	NM_000493.3(COL10A1):c.1784G>A (p.Gly595Glu)	COL10A1	Dec 01, 1998	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116120332	GGACTGGAATCTTTACTTGTCAGATACCAGGAATATACTATTTTTCATACCACGTGCATGT
769268803	259865	NM_000162.3(GCK):c.766G>A (p.Glu256Lys)	GCK	Feb 07, 2017	MedGen:CN517202	not provided	germline	7	44147747	GGGGACGAGGGCCGCATGTGCGTCAATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGC
875989837	227457	NM_001007593.2(SMPD1):c.949G>A (p.Val317Met)	SMPD1	May 20, 2015	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006	Niemann-Pick disease, type A	inherited	11	6392017	TTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAACCATGAAAGCACACCTGTCAATA
797045993	209112	NM_006306.3(SMC1A):c.2369G>A (p.Arg790Gln)	SMC1A	Jun 07, 2017	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	germline	X	53403617	TTTGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGAAACGGCA
66626662	26042	NM_000531.5(OTC):c.484G>A (p.Gly162Arg)	OTC	Jul 01, 1992	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38401372	GCTAAAGAAGCATCCATCCCAATTATCAATGGGCTGTCAGATTTGTACCATCCTATCCAGA
368765949	172177	NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	MYBPC3	Jan 26, 2017	MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;not provided	germline	11	47332244	TTTACCTTATTTATAGCCCAAGATTTCCTGGTTCAAGAATGGCCTGGACCTGGGAGAAGAC
886037947	248805	NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys)	POMGNT1	Sep 20, 2016	MedGen:C4310704,OMIM:617123	Retinitis pigmentosa 76	germline	1	46195879	AAACGTGTGTTTGACACGTACTCACCTCATGAGGATGAGGCCATGGTGCTATTCCTCAACA
587779449	106892	NM_000090.3(COL3A1):c.2941G>A (p.Gly981Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005359	TTTTCATTCCTTTGTATACAGGGTGAAAGTGGGAAACCAGGAGCTAACGGTCTCAGTGGAG
148438059	215094	NM_001218.4(CA12):c.908-1G>A	CA12	Oct 20, 2015	MedGen:C1840437,OMIM:143860	Hyperchlorhidrosis, isolated	germline	15	63327234	ATGTAATGTGTGCCCTCTACCTCTTCACCAGGCATCATCCTCTCACTGGCCCTGGCTGGCA
886041779	264685	NM_003482.3(KMT2D):c.13999+1G>A	KMT2D	May 12, 2016	MedGen:CN517202	not provided	germline	12	49030279	CTGCCCGGGATAGTGAAAGGGCACTGAGGGGTAAGTCAAGAGCAGATGCCACCCCTGGTGG
-1	452681	NM_000249.3(MLH1):c.1667+1G>A	MLH1	Jun 19, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	germline	3	37040295	GTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAG
1057518223	360641	NM_001456.3(FLNA):c.4599-1G>A	FLNA	Mar 15, 2017	MedGen:CN517202	not provided	germline	X	154358356	TCTGACTGCTCACAACACCAATCCCTCACAGCCCCTTCAAGGTCAAGGTGCTGCCTACTCA
-1	437688	NM_001145112.1(PATL2):c.1108G>A (p.Gly370Arg)	PATL2	Oct 24, 2017	MedGen:CN562785,OMIM:617743	OOCYTE MATURATION DEFECT 4	germline	15	44669096	GGCTTCCTGCAGGTGCTCTCTGTGAGGAAGGGGAAGGCCCTGGTGGCCCGGCTGCTCCCCT
137852857	17698	NM_198428.2(BBS9):c.421G>A (p.Gly141Arg)	BBS9	Dec 01, 2005	MedGen:C1859567,OMIM:615986	Bardet-Biedl syndrome 9	germline	7	33177570	CTTCAGAGAACAGCCTGCAATATGACCTATGGATCATTTGGTGGTGTAAAAGGTAATTTGC
80358274	34278	NM_004700.3(KCNQ4):c.778G>A (p.Glu260Lys)	KCNQ4	Feb 17, 2011	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	not provided	1	40819416	ATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCT
786204014	185786	NM_005957.4(MTHFR):c.587G>A (p.Gly196Asp)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11796399	GCCTCTCCTGACTGTCATCCCTATTGGCAGGTTACCCCAAAGGCCACCCCGAAGCAGGGAG
397509372	106954	NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188996501	GCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAATATTT
80359808	67523	NM_000059.3(BRCA2):c.9501G>A (p.Glu3167=)	BRCA2	Nov 13, 1997	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	not provided	13	32394933	GACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACAT
137853150	20502	NM_006019.3(TCIRG1):c.1213G>A (p.Gly405Arg)	TCIRG1	Feb 01, 2003	MedGen:C1850127,OMIM:259700	Osteopetrosis autosomal recessive 1	germline	11	68047480	ACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCC
869025613	224882	NM_001203.2(BMPR1B):c.447-1G>A	BMPR1B	Mar 04, 2016	MedGen:C4225183,OMIM:616849	Brachydactyly, type a1, d	germline	4	95124982	TCTAAAATTATCTTCATCTATCCATCTTTAGGTATAAAAGACAAGAAACCAGACCTCGATA
179363873	79107	NM_000211.4(ITGB2):c.715G>A (p.Ala239Thr)	ITGB2	-	MedGen:C0398738,OMIM:116920,Orphanet:ORPHA99842;MedGen:CN517202	Leukocyte adhesion deficiency type 1;not provided	inherited	21	44901518	AACCTGGATGCACCCGAGGGTGGGCTGGACGCCATGATGCAGGTCGCCGCCTGCCCGGTGA
1057524142	371167	NM_024757.4(EHMT1):c.2622G>A (p.Trp874Ter)	EHMT1	Dec 22, 2016	MedGen:CN517202	not provided	germline	9	137800894	TCCTCTTCCCTGGCAGGATGACGGAGGCTGGACACCCATGATCTGGGCCACAGAGTACAAG
121964916	27163	NM_000204.4(CFI):c.728G>A (p.Gly243Asp)	CFI	Mar 01, 2007	MedGen:C0001733,OMIM:610984	Afibrinogenemia	germline	4	109760567	AATACATTTCTCAGATGAAAGCCTGTGATGGTATCAATGATTGTGGAGACCAAAGTGATGA
58075662	29612	NM_000421.3(KRT10):c.467G>A (p.Arg156His)	KRT10	Sep 20, 2017	Human Phenotype Ontology:HP:0007475,MedGen:C0079153,OMIM:113800,Orphanet:ORPHA312,SNOMED CT:254167000;MedGen:CN517202	Bullous ichthyosiform erythroderma;not provided	germline	17	40822119	AAAAAGTAACCATGCAGAATCTGAATGACCGCCTGGCTTCCTACTTGGACAAAGTTCGGGC
797044846	266621	NM_000304.3(PMP22):c.117G>A (p.Trp39Ter)	PMP22	Aug 13, 2015	MedGen:C0393814,OMIM:162500,Orphanet:ORPHA640,SNOMED CT:230558006	Hereditary liability to pressure palsies	germline	17	15259155	CGTGGGCAATGGACACGCAACTGATCTCTGGCAGAACTGTAGCACCTCTTCCTCAGGAAAT
367699137	409111	NM_000359.2(TGM1):c.788G>A (p.Trp263Ter)	TGM1	Jul 15, 2015	MedGen:CN517202	not provided	germline	14	24260028	AGGACATTGTGTACGTGGACCATGAGGATTGGCGGCAGGAGTATGTTCTTAATGAGTCTGG
587784265	169332	NM_000430.3(PAFAH1B1):c.3G>A (p.Met1Ile)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2638291	ATCAGATAAGCTTGACATTACAGCCAAGATGGTGCTGTCCCAGAGACAACGAGATGAACTG
863223296	26789	NM_001110556.1(FLNA):c.373+1G>A	FLNA	Dec 01, 1998	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154370872	ACCGCGAGAGCATCAAACTGGTGTCCATCGGTGAGGGACGCCCCGAAGCGCCGGGCGGGCG
1057517846	360198	NM_016373.3(WWOX):c.131G>A (p.Trp44Ter)	WWOX	Jun 28, 2016	MedGen:CN517202	not provided	germline	16	78108446	TTAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACG
876661242	231905	NM_000059.3(BRCA2):c.9381G>A (p.Trp3127Ter)	BRCA2	Feb 23, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32394813	TATGTTAATTGCTGCAAGCAACCTCCAGTGGCGACCAGAATCCAAATCAGGCCTTCTTACT
-1	432450	NM_001270.2(CHD1):c.1853G>A (p.Arg618Gln)	CHD1	Sep 21, 2017	MedGen:CN482172,OMIM:617682;MedGen:CN517202	PILAROWSKI-BJORNSSON SYNDROME;not provided	de novo;germline	5	98893554	GGGCATTTATAGGTGTTGATGAAGCACACCGATTAAAGAATGATGACTCCCTTCTGTATAA
137853135	20787	NM_005094.3(SLC27A4):c.1748G>A (p.Arg583His)	SLC27A4	Aug 01, 2009	MedGen:C1837610,OMIM:608649,Orphanet:ORPHA88621	Ichthyosis prematurity syndrome	germline	9	128355770	TGCCCCTGTATGCGCGCCCCATCTTCCTGCGCCTCCTGCCTGAGCTGCACAAAACAGGTGT
-1	442374	NM_033380.2(COL4A5):c.2509+1G>A	COL4A5	Jun 06, 2017	MedGen:CN517202	not provided	germline	X	108615025	CAGGGATTCCTGGGCCAATAGGTCAACCTGGTAAGATTAGAGTAAATGTGCATTTTGTAGC
62514956	98659	NM_000277.2(PAH):c.912+1G>A	PAH	Mar 29, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102851686	TCAGATCGCAGCTTTGCCCAGTTTTCCCAGGTAAGGAATGGATTTTTTAGCCTTCTAGTTA
879255596	227108	NM_001144967.2(NEDD4L):c.2690G>A (p.Arg897Gln)	NEDD4L	Nov 16, 2016	MedGen:C4310669,OMIM:617201;MedGen:CN236338	Periventricular nodular heterotopia 7;Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay	de novo;germline	18	58390680	TGCTACTCATGGACGCCGAAAAGCGTATCCGGTTACTGCAGTTTGTCACAGGGACATCGCG
763799125	481376	NM_014297.4(ETHE1):c.586G>A (p.Asp196Asn)	ETHE1	Nov 16, 2017	MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188	Ethylmalonic encephalopathy	maternal	19	43508784	CCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGTGAGGGCTTCCTGGAAGAGG
121434563	31792	NM_000399.4(EGR2):c.1234G>A (p.Glu412Lys)	EGR2	Nov 01, 2007	MedGen:C4016028	Dejerine-sottas neuropathy, autosomal dominant	germline	10	62813404	TACTGTGGCCGAAAGTTTGCCCGGAGTGATGAGAGGAAGCGCCACACCAAGATCCACCTGA
-1	434293	NM_000527.4(LDLR):c.1433G>A (p.Gly478Glu)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113609	TCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACAT
1800312	358515	NM_000152.4(GAA):c.2238G>A (p.Trp746Ter)	GAA	Jun 13, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline;unknown	17	80117016	CACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTC
770302956	259645	NM_000228.2(LAMB3):c.1132+5G>A	LAMB3	Jul 18, 2016	MedGen:CN517202	not provided	germline	1	209629732	AGCTTCCATTCAGGAGACCTGCATCTGTGAGTAGAGGCTCCGGAGTCCCAGAGTGTCATTT
104893988	24335	NM_001024630.3(RUNX2):c.891G>A (p.Trp297Ter)	RUNX2	May 30, 1997	MedGen:C0008928,OMIM:119600,Orphanet:ORPHA1452,SNOMED CT:65976001	Cleidocranial dysostosis	germline	6	45512277	CCCCAGGCAGGCACAGTCTTCCCCGCCGTGGTCCTATGACCAGTCTTACCCCTCCTACCTG
377544304	358505	NM_000152.4(GAA):c.1799G>A (p.Arg600His)	GAA	Jul 10, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002;MedGen:CN517202	Glycogen storage disease, type II;not provided	germline;unknown	17	80112622	CTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGC
118192120	76831	NM_000540.2(RYR1):c.4729G>A (p.Ala1577Thr)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38483311	TGCCCTCAGAACATCATGCCGTTGTCAGCCGCCATGTTCCAAAGCGAGCGCAAGAACCCGG
886039505	259913	NM_000118.3(ENG):c.360+1G>A	ENG	Jun 16, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN517202	Osler hemorrhagic telangiectasia syndrome;not provided	germline	9	127829686	GCCCTGGGAATCCCACTGCACTTGGCCTACGTGAGTGTGTTCCCTCCAACCCCAGGCTGAG
397514454	38559	NM_006721.3(ADK):c.89G>A (p.Gly30Glu)	ADK	Oct 07, 2011	MedGen:C3280381,OMIM:614300,Orphanet:ORPHA289290	Hypermethioninemia due to adenosine kinase deficiency	germline	10	74200787	TTTTTAGAGAAAATATTCTCTTTGGAATGGGAAATCCTCTGCTTGACATCTCTGCTGTAGT
267606918	21914	NM_004646.3(NPHS1):c.2464G>A (p.Val822Met)	NPHS1	May 01, 2007	MedGen:C0403399,OMIM:256300,Orphanet:ORPHA839,SNOMED CT:197601003	Finnish congenital nephrotic syndrome	germline	19	35842421	GGCGCTTACCAGTGCATTGTGGACAATGGGGTGGCGCCTCCAGCACGACGGCTGCTCCGTC
587777791	166219	NM_006218.3(PIK3CA):c.403G>A (p.Glu135Lys)	PIK3CA	Jan 10, 2013	MedGen:C3554518,OMIM:615108	Cowden syndrome 5	germline	3	179199740	GTGTGTGAATTTGATATGGTTAAAGATCCAGAAGTACAGGACTTCCGAAGAAATATTCTGA
1131692293	424537	NM_000280.4(PAX6):c.151G>A (p.Gly51Arg)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo	11	31801767	CTGTCCACTTCCCCTATGCAGGTGTCCAACGGATGTGTGAGTAAAATTCTGGGCAGGTATT
1060503323	394685	NM_000038.5(APC):c.532-8G>A	APC	Nov 14, 2016	MedGen:CN240755;MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009	Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	germline	5	112780782	ACAAGATATTGATACTTTTTTATTATTTGTGGTTTTAGTTTTCCTTACAAACAGATATGAC
869025610	224871	NM_177987.2(TUBB8):c.785G>A (p.Arg262Gln)	TUBB8	Jan 21, 2016	MedGen:C4225210,OMIM:616780	Oocyte maturation defect 2	germline	10	47607	AGCTGGCCGTGAACATGGTCCCGTTTCCCCGGCTGCATTTCTTCATGCCCGGCTTTGCCCC
267606844	32035	NM_000165.4(GJA1):c.227G>A (p.Arg76His)	GJA1	Mar 01, 2004	MedGen:C2749477,OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	germline	6	121447074	ATGACAAGTCTTTCCCAATCTCTCATGTGCGCTTCTGGGTCCTGCAGATCATATTTGTGTC
587783015	166165	NM_201253.2(CRB1):c.998G>A (p.Gly333Asp)	CRB1	Sep 18, 2014	MedGen:C3151202,OMIM:613835	Leber congenital amaurosis 8	unknown	1	197356840	CTCTGAATTTTCATCATGCAGGATACACAGGTGCCCAGTGTGAGATCGACCTCAATGAATG
587777161	106646	NM_001830.3(CLCN4):c.1630G>A (p.Gly544Arg)	CLCN4	Aug 23, 2017	Gene:4412,MedGen:C3887959,OMIM:300114;MedGen:CN517202	Mental retardation 49, X-linked;not provided	germline	X	10213734	TCATTGGTGGTCATCATGTTTGAATTAACCGGGGGTCTGGAGTACATCGTGCCCCTGATGG
104894284	28182	NM_000448.2(RAG1):c.1682G>A (p.Arg561His)	RAG1	May 29, 1998	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006	Histiocytic medullary reticulosis	germline	11	36574986	ACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGAT
28935472	26797	NM_001110556.1(FLNA):c.3562G>A (p.Ala1188Thr)	FLNA	Jan 04, 2018	MedGen:C0025237,OMIM:309350,Orphanet:ORPHA2484,SNOMED CT:13449007;MedGen:CN517202	Melnick-Needles syndrome;not provided	germline	X	154360233	GTGGGCCAATTCCAAGTGGACTGCTCGAGCGCGGGCAGCGCGGAGCTGACCATTGAGATCT
180177304	200621	NM_012203.1(GRHPR):c.102G>A (p.Trp34Ter)	GRHPR	Nov 27, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline	9	37424863	CTTTCCCCGCAGCTGTGAGGTGGAGCAGTGGGACTCGGATGAGCCCATCCCTGCCAAGGAG
1060500296	401837	NM_000267.3(NF1):c.6084+1G>A	NF1	Nov 08, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31336474	TCTGGAAATGTGAAATTGGTTTCAAGCAAGGTAATCACTTTTCTTTTGCCTTCTGTACTAT
974677376	439688	NM_020247.4(COQ8A):c.1506+1G>A	COQ8A	Aug 21, 2017	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4	maternal;paternal	1	226984656	AACTTCTTCTATGACCCCCAGCAGCACAAGGTGAGCCCCAGGGTGGGGGCACCCGCAGCCA
886039703	259922	NM_024757.4(EHMT1):c.2867+5G>A	EHMT1	Aug 15, 2016	MedGen:CN517202	not provided	germline	9	137811620	CGGGAGAACCGCTACGACTGTGTCGTGTGAGTGCAGTGCTTCCCCCAGCGCGGGCTGGCGC
1057518707	361243	NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln)	DDX3X	May 01, 2016	MedGen:C4085582,OMIM:300958,Orphanet:ORPHA457260	Mental retardation, X-linked 102	maternal	X	41345206	ACAGATACTTGGTGTTAGATGAAGCTGATCGGATGTTGGATATGGGGTTTGAGCCTCAGAT
104894012	31179	NM_000162.3(GCK):c.1363G>A (p.Val455Met)	GCK	Jan 22, 1998	MedGen:C1865290,OMIM:602485,Orphanet:ORPHA79299	Hyperinsulinemic hypoglycemia familial 3	germline	7	44145171	AGTGGCCGGGGCGCGGCCCTGGTCTCGGCGGTGGCCTGTAAGAAGGCCTGTATGCTGGGCC
797045948	206783	NM_006642.4(SDCCAG8):c.567G>A (p.Trp189Ter)	SDCCAG8	Jul 17, 2015	MedGen:C3150877,OMIM:613615	Senior-Loken syndrome 7	germline	1	243293111	TTTATTTTAGGGAAACATGCACAATTCTTGGATTACAACAGGTGAAGATTCTGGGGTGGGC
397516073	51961	NM_000256.3(MYBPC3):c.821+1G>A	MYBPC3	Oct 30, 2017	MedGen:CN230736;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47347856	CCTGGACCTCCTATCAGCCTTCCGCCGCACGTGAGTGGCCATCCTCAGGGCCTGGGGGAGG
397514747	75297	NM_001014796.2(DDR2):c.337G>A (p.Glu113Lys)	DDR2	Jun 01, 2010	MedGen:C1849011,OMIM:271665,Orphanet:ORPHA93358	Spondylometaepiphyseal dysplasia short limb-hand type	germline	1	162754775	CAGGGGCGCCATGCAGGAGGTCATGGCATCGAGTTTGCCCCCATGTACAAGATCAATTACA
879255278	244130	NM_001136239.3(PRDM6):c.1646G>A (p.Arg549Gln)	PRDM6	Jul 20, 2016	MedGen:C4310753,OMIM:617039	Patent ductus arteriosus 3	germline	5	123180296	CCGGGGCCACCACCCTCAACAACCACATCCGAACCCACACTGGAGAAAAGCCCTTCAAGTA
80338828	29118	NM_002473.5(MYH9):c.2114G>A (p.Arg705His)	MYH9	Apr 05, 2011	MedGen:C1863659,OMIM:603622;MedGen:CN073381,Orphanet:ORPHA182050	Deafness, autosomal dominant nonsyndromic sensorineural 17;MYH9 related disorders	germline	22	36305975	ACGGTGTTCTCGAGGGCATCCGTATCTGCCGCCAGGGCTTCCCCAACAGGGTGGTCTTCCA
28942098	18306	NM_024529.4(CDC73):c.3G>A (p.Met1Ile)	CDC73	Dec 01, 2002	MedGen:C1704981,OMIM:145001,Orphanet:ORPHA99880	Hyperparathyroidism 2	germline	1	193122203	CGAGCCGGCGGAGGCGAGGGGGGGGAAGATGGCGGACGTGCTTAGCGTCCTGCGACAGTAC
63750013	104110	NM_005910.5(MAPT):c.915+3G>A	MAPT	Mar 15, 2017	MedGen:CN517202	not provided	germline	17	46010405	TATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCT
727504350	193387	NM_000169.2(GLA):c.485G>A (p.Trp162Ter)	GLA	Dec 14, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101401694	ACGACATTGATGCCCAGACCTTTGCTGACTGGGGAGTAGATCTGCTAAAATTTGATGGTTG
397515203	76209	NM_000548.4(TSC2):c.2640-1G>A	TSC2	Jun 13, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2076067	GGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCA
1131692062	424206	NC_012920.1:m.12283G>A	MT-TL2	May 22, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	MT	12283	CATGGCTTTCTCAACTTTTAAAGGATAACAGCTATCCATTGGTCTTAGGCCCCAAAAATTT
794726716	187792	NM_001165963.1(SCN1A):c.2876G>A (p.Cys959Tyr)	SCN1A	Jun 16, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166037846	GTGGGGAGTGGATAGAGACCATGTGGGACTGTATGGAGGTTGCTGGTCAAGCCATGTGCCT
312262708	171262	NM_000100.3(CSTB):c.149G>A (p.Gly50Glu)	CSTB	Nov 25, 2014	MedGen:C0751785,OMIM:254800,Orphanet:ORPHA308,SNOMED CT:230423006	Unverricht-Lundborg syndrome	germline	21	43774677	CCGTGTCATTCAAGAGCCAGGTGGTCGCGGGGACAAACTACTTCATCAAGGTAGAGTGTGG
727503863	177590	NM_017780.3(CHD7):c.2933G>A (p.Trp978Ter)	CHD7	Apr 15, 2014	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60822121	TCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGTATGT
141659620	21858	NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser)	SPG7	Oct 18, 2017	MedGen:CN239433;MedGen:C1846564,OMIM:607259,Orphanet:ORPHA99013;MedGen:CN517202	Spastic Paraplegia, Recessive;Spastic paraplegia 7;not provided	germline	16	89531961	GCCAAGGTCCCAAAGGGCGCACTGCTGCTCGGCCCCCCCGGCTGTGGGAAGACGCTGCTGG
104893622	22773	NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn)	CYP1B1	Feb 01, 1998	Human Phenotype Ontology:HP:0000557,MedGen:C0020302,OMIM:231300,Orphanet:ORPHA98976	Buphthalmos	germline	2	38071234	GTGGGGAGGGACCGTCTGCCTTGTATGGGTGACCAGCCCAACCTGCCCTATGTCCTGGCCT
886041359	265148	NM_000444.5(PHEX):c.1367G>A (p.Trp456Ter)	PHEX	May 12, 2016	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline	X	22133587	TTATTGACATGCTAGAGAAAGAAAATGAGTGGATGGATGCAGGAACGAAAAGGAAAGCCAA
1064793980	409261	NM_000138.4(FBN1):c.6616+1G>A	FBN1	Apr 07, 2016	MedGen:CN517202	not provided	germline	15	48434593	TTGAGCCCGGTCCAATGATGACATGTGAAGGTACATCTCTTAAACAGAGAACAGTTGATTA
137852956	19667	NM_021830.4(TWNK):c.908G>A (p.Arg303Gln)	TWNK	May 01, 2009	MedGen:C1836439,OMIM:609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	germline	10	100989118	CCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCG
111033648	44187	NM_000155.3(GALT):c.152G>A (p.Arg51Gln)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647158	GGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCT
2309689	33868	NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp)	ACADVL	Jun 16, 2017	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202;MedGen:CN169374	Very long chain acyl-CoA dehydrogenase deficiency;not provided;not specified	germline;unknown	17	7223865	ATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCA
63750992	426825	NM_001171.5(ABCC6):c.3932G>A (p.Gly1311Glu)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154982	CCGGGGCAGGGAAGTCCTCCCTGGCCAGTGGGCTGCTGCGGCTCCAGGAGGCAGCTGAGGG
137853599	25832	NM_152692.4(C1GALT1C1):c.454G>A (p.Glu152Lys)	C1GALT1C1	Oct 27, 2005	MedGen:C0272137,OMIM:300622,SNOMED CT:40387008	Polyagglutinable erythrocyte syndrome	somatic	X	120626713	CTTGCACGCCCCACTACGTTTGCTATCATTGAAAACCTAAAGTATTTTTTGTTAAAAAAGG
121912509	29470	NM_000238.3(KCNH2):c.3003G>A (p.Trp1001Ter)	KCNH2	Apr 20, 2017	MedGen:C3150943,OMIM:613688;MedGen:CN517202	Long QT syndrome 2;not provided	germline	7	150947477	CTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAG
104895317	26969	NM_000431.3(MVK):c.1000G>A (p.Ala334Thr)	MVK	Apr 26, 2017	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:C1959626,OMIM:610377,Orphanet:ORPHA29	Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria	not provided	12	109595142	GCCCGCGGACTTCACAGCAAGCTGACTGGCGCAGGCGGTGGTGGCTGTGGCATCACACTCC
144781064	68459	NM_000492.3(CFTR):c.3717G>A (p.Arg1239=)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117627770	CATTTCCTTCTCAATAAGTCCTGGCCAGAGGGTGAGATTTGAACACTGCTTGCTTTGTTAG
1057518792	361011	NM_001042492.2(NF1):c.2410-1G>A	NF1	Mar 10, 2017	Human Phenotype Ontology:HP:0007565,MedGen:C1861975,OMIM:114030,Orphanet:ORPHA2678;MedGen:C0027672,SNOMED CT:699346009	Cafe au lait spots, multiple;Hereditary cancer-predisposing syndrome	germline;unknown	17	31229024	TTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTT
587784131	168204	NM_022455.4(NSD1):c.4966+1G>A	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177257152	CTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATT
72656330	32352	NM_000088.3(COL1A1):c.3541G>A (p.Gly1181Ser)	COL1A1	Jan 11, 1996	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50186913	CTCTCTTCCCTCTCTGTGCAGGGTCCCCCCGGCCCTCCTGGACCTCCTGGTCCCCCTGGTC
375596425	441058	NM_000083.2(CLCN1):c.1471+1G>A	CLCN1	Jul 01, 2016	MedGen:CN517202	not provided	germline	7	143339323	GCGGAGGCTTCATGCCTGTGTTTGTGCTAGGTAAGTTCTGATGGGAAGCCTGGGGTCTGAC
140880838	260219	NM_001972.3(ELANE):c.628G>A (p.Gly210Arg)	ELANE	Apr 08, 2014	MedGen:CN517202	not provided	germline	19	855988	GGGGACTCCGGCAGCCCCTTGGTCTGCAACGGGCTAATCCACGGAATTGCCTCCTTCGTCC
119468009	18685	NM_020247.4(COQ8A):c.1645G>A (p.Gly549Ser)	COQ8A	Jun 07, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4	germline	1	226985326	GCGAAATCCATAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGCAGGGTTGCGG
587779557	107008	NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188989396	TCTATTCATTTTTTATTTCCTTATTTTCAGGGCCCTCCAGGACCTCCTGGTGCTATAGGTC
771894262	227165	NM_017909.3(RMND1):c.631G>A (p.Val211Met)	RMND1	Dec 22, 2015	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	6	151433213	TTTTAAATCACAGATGCAGCAAATATTTTGGTGATGGGTGTGGAAAATTCTGCAAAAGAAG
766328537	186962	NM_000049.2(ASPA):c.79G>A (p.Gly27Arg)	ASPA	Apr 07, 2017	MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005;MedGen:CN517202	Spongy degeneration of central nervous system;not provided	germline;unknown	17	3476238	TTTGGAGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGA
104886131	35789	NM_000495.4(COL4A5):c.1780G>A (p.Gly594Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598702	TGTTTCTGTATTAAACTTTTCCCTTTTTAGGGTGGAATTACTTTTAAGGGTGAAAGAGGTC
863224923	213539	NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln)	SPAST	Jun 24, 2014	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	unknown	2	32145005	TGGCAAAAGATGCAGCACTGGGTCCTATCCGAGGTAGGTATACAAGAGCTTAAAACATTTA
863225165	214218	NM_023073.3(CPLANE1):c.2831G>A (p.Arg944His)	CPLANE1	Feb 23, 2015	MedGen:C3553264,OMIM:614615	Joubert syndrome 17	unknown	5	37213648	CAGCAGTGAGAGTCGTCCAGTCCATGGCTCGTTTCATGGCTGCCTATTTCACCAATCAGCA
886041225	264998	NM_000444.5(PHEX):c.1645+1G>A	PHEX	Jun 12, 2017	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline;maternal	X	22190503	CCTTCTACAGTGCATCCACCAACCAGATCCGTGAGTACGGGTTCCTTGTCTCCTTGGTAAC
149914792	266410	NM_000070.2(CAPN3):c.1303G>A (p.Glu435Lys)	CAPN3	Oct 27, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42399601	AAGCTTCAGACCTGGACAGTGTCTGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCG
690016564	171838	NM_005211.3(CSF1R):c.2350G>A (p.Val784Met)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056311	TGCATCCACCGGGACGTGGCAGCGCGTAACGTGCTGTTGACCAATGGTCATGTGGCCAAGA
886041057	263634	NM_181789.2(GLDN):c.541+1G>A	GLDN	Nov 09, 2016	MedGen:C4310670,OMIM:617194	Lethal congenital contracture syndrome 11	germline	15	51383893	AAGGAGCAAATGGAAAAAGAGGAAAAATGGGTATTTTTGGCAACTCTTCTAATTAATTTCC
267607734	95616	NM_000249.3(MLH1):c.306+1G>A	MLH1	Jul 27, 2017	MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C2936783,OMIM:120435	Hereditary nonpolyposis colon cancer;Lynch syndrome I	germline	3	37001054	AGTATTTCTACCTATGGCTTTCGAGGTGAGGTAAGCTAAAGATTCAAGAAATGTGTAAAAT
587779521	106966	NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008134	CCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGGTAAGACATCACTTATACGTAT
886039761	260386	NM_024818.4(UBA5):c.503G>A (p.Gly168Glu)	UBA5	Oct 06, 2016	MedGen:C4310700,OMIM:617132	Epileptic encephalopathy, early infantile, 44	germline	3	132670973	CAAACTTATTTTCTTTGACTAGTAATGGTGGGTTAGAAGAAGGAAAACCTGTTGATCTAGT
587779599	107059	NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004019	CAGGACCCCCAGGTCCCAGCGGTTCTCCAGGCAAGGATGGGCCCCCAGGTCCTGCGGGTAA
137854500	24542	NM_005502.3(ABCA1):c.3865G>A (p.Asp1289Asn)	ABCA1	Jul 27, 2001	MedGen:C0039292,OMIM:205400,Orphanet:ORPHA31150	Tangier disease	germline	9	104814154	CAGAGCTGTCTTCGCCCGTTCACTGAAGATGATGCTGCTGATCCAAATGATTCTGACATAG
397518423	94255	NM_005026.4(PIK3CD):c.3061G>A (p.Glu1021Lys)	PIK3CD	Aug 07, 2017	MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596;MedGen:CN517202;MedGen:CN169374	Immunodeficiency 14;not provided;not specified	de novo;germline;inherited	1	9726972	GCACTGAAGCACTTCCGAGTGAAGTTTAACGAAGCCCTCCGTGAGAGCTGGAAAACCAAAG
864321623	217214	NM_032504.1(UNC80):c.565G>A (p.Val189Met)	UNC80	Jan 07, 2016	Human Phenotype Ontology:HP:0001298,MedGen:C1963101;MedGen:C4225203,OMIM:616801	Encephalopathy;Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	germline	2	209777524	CAGAACTCCATGGCTACTGTGGAGCTCTTCGTGTTTCTGTTTGCTCCCCTGGTACACAGGA
121912868	32398	NM_001844.4(COL2A1):c.3158G>A (p.Gly1053Glu)	COL2A1	Nov 05, 1992	MedGen:C0542428,Orphanet:ORPHA93297	Hypochondrogenesis	germline	12	47977607	ATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGT
397507941	67095	NM_000059.3(BRCA2):c.7856G>A (p.Trp2619Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32362573	GTGTGGATCCAAAGCTTATTTCTAGAATTTGGGTTTATAATCACTATAGATGGATCATATG
201095702	38850	NM_004959.4(NR5A1):c.634G>A (p.Gly212Ser)	NR5A1	Oct 08, 2010	MedGen:C3151406,OMIM:613957	Spermatogenic failure 8	germline	9	124500326	GCCAGCCCCCCACAGCCTGGGCTGCCGTACGGCTACCCAGAGCCCTTCTCTGGAGGGCCCA
879254771	245947	NM_000527.4(LDLR):c.1060+1G>A	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11110772	TCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCC
72664214	426832	NM_001171.5(ABCC6):c.3883-6G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16155037	TGGTCAGAGCAGGCCTTTCCTCCCAACCCCGGGCAGGTGGGCATCGTTGGCAGGACCGGGG
1060503494	393485	NM_022912.2(REEP1):c.113G>A (p.Trp38Ter)	REEP1	May 20, 2016	MedGen:C1853247,OMIM:610250,Orphanet:ORPHA101011	Spastic paraplegia 31, autosomal dominant	germline	2	86264034	TGTGTTGCTTTCTGTTTCAACAGGTCAAATGGATGATGTACTGGATTATATTTGCACTTTT
869320767	227451	NM_005045.3(RELN):c.5969+1G>A	RELN	Dec 21, 2015	MedGen:C0796089,OMIM:257320,Orphanet:ORPHA89844	Lissencephaly 2	germline	7	103553659	TTATTGTCCATATTCTTCAAAGGGGGCACCGTAAGTATTAAGAATCTAAAAATAAAACCAC
61752159	104850	NM_000330.3(RS1):c.422G>A (p.Arg141His)	RS1	Nov 04, 2016	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;MedGen:CN517202	Juvenile retinoschisis;not provided	germline;unknown	X	18644530	AAGTGATTTCAGGGATCCTCACCCAGGGGCGCTGTGACATCGATGAGTGGATGACCAAGTA
750950408	214274	NM_153704.5(TMEM67):c.515G>A (p.Arg172Gln)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93765414	TTATTTTTGTTATATTGAACAGGTGCGTCCGATGTGAGCCAACATTTGTTAATACCAGCAG
587780326	134329	NM_018294.5(CWF19L1):c.964+1G>A	CWF19L1	Dec 09, 2014	MedGen:C4015301,OMIM:616127,Orphanet:ORPHA453521;MedGen:CN517202	Spinocerebellar ataxia, autosomal recessive 17;not provided	germline	10	100245798	CTCCTCATCCAAAGCAGCCTCGCAAACCTCGTAAGTACCTTTATTCCAGAGGTTTCTTCTA
61754375	18835	NM_000372.4(TYR):c.896G>A (p.Arg299His)	TYR	Jan 17, 2017	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89191278	GCAATGGAACGCCCGAGGGACCTTTACGGCGTAATCCTGGAAACCATGACAAATCCAGAAC
397515563	76612	NM_012144.3(DNAI1):c.2001+1G>A (p.Ala607_Lys667del)	DNAI1	Sep 03, 2015	MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Kartagener syndrome	germline	9	34517468	CTCTCACCCAATTTGCGCAAGATGCCAAAGGTACAGGCTCTGGGACTTTGAGCTGCTGCAA
137852909	17936	NM_000419.4(ITGA2B):c.1253G>A (p.Gly418Asp)	ITGA2B	Feb 11, 1994	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44381019	CTGCCCCCTACGGGGGTCCCAGTGGCCGGGGCCAAGTGCTGGTGTTCCTGGGTCAGAGTGA
113994173	49461	NM_001079.3(ZAP70):c.837+121G>A	ZAP70	Mar 01, 2012	MedGen:C1849236,OMIM:269840	Severe combined immunodeficiency, atypical	not provided	2	97733464	AGCGGAAGAAGCTCTCTCTCCACTGTCTCTGGGAGTCCTCAGTGGATATAGGTCTCATGAG
199473058	78703	NM_198056.2(SCN5A):c.362G>A (p.Arg121Gln)	SCN5A	Jul 22, 2016	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005	Brugada syndrome	germline	3	38630341	TGTATGTCCTCAGTCCCTTCCACCCCATCCGGAGAGCGGCTGTGAAGATTCTGGTTCACTC
-1	434138	NM_174936.3(PCSK9):c.207+5G>A	PCSK9	-	Human Phenotype Ontology:HP:0003146,MedGen:C0151718	Hypocholesterolemia	germline	1	55040049	CAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCC
-1	426528	NM_002052.4(GATA4):c.998-26G>A	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11756909	GGCTGTTCGTTTGTCCCTGCCGCTGATTTGGGTGTGCTGACTCTGCTTCATTCCAGCTCCT
1057516539	357043	NM_000228.2(LAMB3):c.628+1G>A	LAMB3	Aug 07, 2017	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006;MedGen:CN517202	Junctional epidermolysis bullosa gravis of Herlitz;not provided	germline;unknown	1	209633069	TTCCAGCAACTCAAAGTCAAAAAATTCAAGGTCAGTGTGGTTACTTCTCTTGTCCATGGAA
281874739	35612	NM_000495.4(COL4A5):c.438+5G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108571471	GTTTTCCTGGTTTACAGGGTCCTCCAGTAAGTTATAAAATTTGGGATTATGATGAACACAG
121918468	28381	NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr)	PTPN11	Jul 11, 2017	MedGen:CN074218,OMIM:151100;MedGen:C1860991,OMIM:609942;MedGen:C0175704,Orphanet:ORPHA500;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	LEOPARD syndrome 1;Noonan syndrome 3;Noonan syndrome with multiple lentigines;Rasopathy;not provided	germline	12	112488444	GTCCCTGCTTTTTGTCCTTCTGCCCGCAGTGCTGGAATTGGCCGGACAGGGACGTTCATTG
878855326	243898	NM_007075.3(WDR45):c.614G>A (p.Gly205Asp)	WDR45	Jun 09, 2016	MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284	Neurodegeneration with brain iron accumulation 5	de novo	X	49075659	ACATAGCCTGTGTGTCTCTAAACCAGCCAGGCACTGTAGTGGCCTCAGCCTCCCAGAAGGG
121908084	19084	NM_000547.5(TPO):c.1768G>A (p.Gly590Ser)	TPO	Jan 01, 1995	MedGen:C1291299,OMIM:274500,SNOMED CT:124204003	Deficiency of iodide peroxidase	germline	2	1487991	CTGCAGAGGGGCCGGGACCACGGGCTGCCAGGTCTGCCAGTTCCTTCCCTTGCACACCTCA
1057520599	367268	NM_000094.3(COL7A1):c.6109G>A (p.Gly2037Arg)	COL7A1	Mar 23, 2016	MedGen:CN517202	not provided	germline	3	48575410	CCCGGGCCTTCCGGCCTTGCCGGGGAGCCTGGAAAGCCTGGTATTCCCGGGCTCCCAGGCA
61750571	105256	NM_000350.2(ABCA4):c.5316G>A (p.Trp1772Ter)	ABCA4	Feb 12, 2016	MedGen:CN517202	not provided	germline	1	94014687	CACTCTGAGTTGTCTCATTTCACACAGATGGGCGGTCATTCCCATGATGTACCCAGCATCC
121909233	22876	NM_000314.6(PTEN):c.55G>A (p.Asp19Asn)	PTEN	Sep 01, 2000	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	10	87864524	GTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGATTCGACTTAGACTTGACCTGTATCC
1060502226	392807	NM_014946.3(SPAST):c.1173+1G>A	SPAST	May 24, 2017	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985;MedGen:CN517202	Spastic paraplegia 4, autosomal dominant;not provided	germline	2	32127023	GGTCCACCTGGGAATGGGAAGACAATGCTGGTAAGGGTTCTCTTCAAATTTGAGTTTTCTG
1131692057	424223	NM_006194.3(PAX9):c.3G>A (p.Met1Ile)	PAX9	Jun 24, 2017	MedGen:C1970291,OMIM:604625	Tooth agenesis, selective, 3	germline	14	36662092	GGGCCGGGTTGGTGTACTGCTCGGAGCAATGGGTGAGTGGCGGCGGGGGACTCTGTCAGAG
121908909	21394	NM_002977.3(SCN9A):c.2691G>A (p.Trp897Ter)	SCN9A	Dec 14, 2006	MedGen:C1855739,OMIM:243000,Orphanet:ORPHA88642	Indifference to pain, congenital, autosomal recessive	germline	2	166277133	GATCAATGATGACTGTACGCTCCCACGGTGGCACATGAACGACTTCTTCCACTCCTTCCTG
137852990	20009	NM_022437.2(ABCG8):c.788G>A (p.Arg263Gln)	ABCG8	Dec 01, 2000	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43852692	AGACCTTGTCCAGGCTGGCCAAAGGCAACCGGCTGGTGCTCATCTCCCTCCACCAGCCTCG
756690487	208129	NM_000153.3(GALC):c.331G>A (p.Gly111Ser)	GALC	May 27, 2015	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005	Galactosylceramide beta-galactosidase deficiency	germline	14	87986600	ACTTCCGTTTTTGCTCTCCTCTATTCAGACGGCACTGAGCCCTCCCACATGCATTATGCAC
794726749	443035	NM_001165963.2(SCN1A):c.1662+1G>A	SCN1A	Aug 24, 2016	MedGen:CN517202	not provided	germline	2	166045042	TATGAAAAGAGGTACTCCTCCCCACACCAGGTATGGCACTGCTGAGTTTACTGATGCATGG
-1	433501	NM_004006.2(DMD):c.8880G>A (p.Trp2960Ter)	DMD	Apr 25, 2017	MedGen:CN169374	not specified	germline	X	31478163	GCGCCAAGCTGAGGTGATCAAGGGATCCTGGCAGCCCGTGGGCGATCTCCTCATTGACTCT
111033614	25305	NM_000132.3(F8):c.5123G>A (p.Arg1708His)	F8	Mar 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154928667	TTTATGATGAGGATGAAAATCAGAGCCCCCGCAGCTTTCAAAAGAAAACACGACACTATTT
867262025	363355	NM_006218.3(PIK3CA):c.2176G>A (p.Glu726Lys)	PIK3CA	Jan 30, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MeSH:D002583,MedGen:CN236667;MedGen:CN517202	Adenocarcinoma of lung;Brainstem glioma;Colorectal Neoplasms;Neoplasm of the breast;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms;not provided	germline;somatic	3	179221146	ACTGACATTCTCAAACAGGAGAAGAAGGATGAAACACAAAAGGTGTGTGACTCTAGTTTGT
763393580	441759	NM_002693.2(POLG):c.2665G>A (p.Ala889Thr)	POLG	Oct 05, 2016	MedGen:CN517202	not provided	germline	15	89321194	CAGGCCCCACCTGGCTACACCCTTGTGGGTGCTGATGTGGACTCCCAAGAGCTGTGGATTG
864309725	216026	NM_172250.2(MMAA):c.161G>A (p.Trp54Ter)	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145639300	TTAATTCTCTTGGACTCCATTGTACAAAGTGGATGCTGCTGTCAGATGGCTTAAAGAGAAA
121909678	31239	NM_000821.6(GGCX):c.1672G>A (p.Gly558Arg)	GGCX	Mar 01, 2007	MedGen:C1835813,OMIM:610842,Orphanet:ORPHA91135	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	germline	2	85551548	CTGGGCAACACTAGCATCCAGCTGCTGCAGGGGGAAGTGACTGTGGAGCTTGTGGCAGAAC
369398935	171800	NM_002887.3(RARS):c.1535G>A (p.Arg512Gln)	RARS	Apr 29, 2014	MedGen:C4015323,OMIM:616140,Orphanet:ORPHA438114	Leukodystrophy, hypomyelinating, 9	germline	5	168516860	GCATCAAATATGCTGACCTTTCCCATAACCGGTTGAATGACTACATCTTCTCCTTTGACAA
368454909	98531	NM_000203.4(IDUA):c.1045G>A (p.Asp349Asn)	IDUA	Nov 30, 2012	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473	Hurler syndrome	germline	4	1002341	TCCGCCTTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACC
370706991	468962	NM_017950.3(CCDC40):c.2712-1G>A	CCDC40	May 24, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	80089763	ATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAAT
1060505037	404674	NM_001690.3(ATP6V1A):c.215G>A (p.Gly72Asp)	ATP6V1A	Mar 27, 2017	MedGen:CN241828,OMIM:617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	germline	3	113784227	TAGGTTTTCCTTAGCTGCTGTTTTTAGCTGGTGTGTCTGTTGGAGATCCTGTACTTCGCAC
193922922	39291	NM_007317.2(KIF22):c.446G>A (p.Arg149Gln)	KIF22	Feb 10, 2017	MedGen:C1863732,OMIM:603546,Orphanet:ORPHA93360;MedGen:CN517202	Spondyloepimetaphyseal dysplasia with multiple dislocations;not provided	germline	16	29798644	GCAGCCCAGAGCAACCTGGGGTGATCCCGCGGGCTCTCATGGACCTCCTGCAGCTCACAAG
606231154	20243	NM_021102.3(SPINT2):c.593-1G>A	SPINT2	Feb 01, 2009	MedGen:C2678346	Diarrhea 3, secretory sodium, congenital, syndromic	germline	19	38291839	GCCCGTCCTGAGGCCCCTCTCTCGTCCTCAGTGGTGGTTCTGGCGGGGCTGTTCGTGATGG
794727444	193200	NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln)	SCN2A	Mar 15, 2017	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927;MedGen:C3150987,OMIM:613721;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;Epileptic encephalopathy;not provided	de novo;germline	2	165389451	TGGATGCCCTTCGAATACAGATGGAAGAGCGATTCATGGCATCAAACCCCTCCAAAGTCTC
398122876	45621	NM_002501.3(NFIX):c.955+1G>A	NFIX	Aug 13, 2010	MedGen:C0265211,OMIM:602535,SNOMED CT:73284007	Marshall-Smith syndrome	germline	19	13075672	CCAGCGGGTGGCCCAACGATGTGGATGCAGGTATGGGTGCGGGGGATCCTGACCCAGAGCA
140307681	443310	NM_080916.2(DGUOK):c.195G>A (p.Trp65Ter)	DGUOK	Sep 13, 2017	MedGen:CN517202	not provided	germline	2	73938962	GAAGTTACTCACGAAAACTTACCCAGAATGGCACGTAGCTACAGAACCTGTAGCAACATGG
-1	469861	NM_001127221.1(CACNA1A):c.1704G>A (p.Trp568Ter)	CACNA1A	Jun 03, 2017	MedGen:C4310716,OMIM:617106;MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	germline	19	13308496	TATCATTGGGAGCATCTTCGAGGTCATCTGGGCTGTCATAAAACCTGGCACATCCTTTGGA
794728257	197627	NM_000138.4(FBN1):c.6871G>A (p.Asp2291Asn)	FBN1	Feb 18, 2015	MedGen:CN517202	not provided	germline	15	48430671	CAGCGGAGACCTGATGGAGAAGGCTGTGTAGGTAAGAGGATCCCTGTGGAAGGAGCTTTGA
104886052	35610	NM_000495.4(COL4A5):c.430G>A (p.Gly144Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108571458	CCAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCCTCCAGTAAGTTATAAAATTTGGGATT
104886384	35997	NM_000495.4(COL4A5):c.3605-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668318	TTTATCTTCTAATTATACTTTACTTTCATAGGCCAAAAGGGTGATGGAGGATTACCTGGGA
121918243	16464	NM_015506.2(MMACHC):c.482G>A (p.Arg161Gln)	MMACHC	Aug 09, 2017	MedGen:C1828210,OMIM:153870,Orphanet:ORPHA251287,SNOMED CT:424169002;MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26;MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26;MedGen:CN517202;MedGen:CN169374	Bull's eye maculopathy;Methylmalonic acidemia with homocystinuria;Methylmalonic acidemia with homocystinuria;not provided;not specified	germline;inherited	1	45508848	ACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGT
397515817	51546	NM_000138.4(FBN1):c.4955G>A (p.Cys1652Tyr)	FBN1	Apr 29, 2009	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48464009	TTTCTCTTTGGATTATAGATGTGAATGAATGTGAGACTCCTGGAATCTGTGGTCCAGGGAC
587776653	22283	NM_003001.3(SDHC):c.405+1G>A	SDHC	Jan 04, 2011	MedGen:C1858592,OMIM:604287,Orphanet:ORPHA139411;Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C1847319,OMIM:606864,Orphanet:ORPHA97286	Carney triad;Gastrointestinal stroma tumor;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Paraganglioma and gastric stromal sarcoma	germline	1	161356841	TATCATACCTGGAATGGGATCCGACACTTGGTAAGTTAATTCGGGATTTGCACATTTTCTC
121918016	28720	NM_000478.5(ALPL):c.1366G>A (p.Gly456Arg)	ALPL	Dec 01, 1996	Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Infantile hypophosphatasia	germline	1	21577439	GCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTCTCCAAGGGCC
120074193	18183	NM_000218.2(KCNQ1):c.805G>A (p.Gly269Ser)	KCNQ1	Aug 09, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2572870	GCCTAGGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACT
767196276	453036	NM_015512.4(DNAH1):c.12339G>A (p.Trp4113Ter)	DNAH1	May 18, 2017	MedGen:CN337166,OMIM:617576	SPERMATOGENIC FAILURE 18	germline	3	52399099	GATCCAAGATGGCATCCCAGCTGTCTTCTGGATCAGTGGATTCTTCTTCCCCCAGGCTTTC
267607888	95518	NM_000249.3(MLH1):c.2103+1G>A	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline;unknown	3	37049018	TCTGAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGG
113994112	32451	NM_001845.5(COL4A1):c.3706G>A (p.Gly1236Arg)	COL4A1	Mar 08, 2011	MedGen:CN032791,OMIM:175780	Porencephaly 1	germline	13	110170583	TCCCCAGGCCATGCCACGGAGGGGCCCAAAGGAGACCGCGGACCTCAGGGCCAGCCTGGCC
762864856	480412	NM_001146040.1(GLRA1):c.477-1G>A	GLRA1	-	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary	inherited	5	151856384	CTGCATCATTCAAAATCCCTTCTCTTCCCAGAATCACCCTGACACTGGCCTGCCCCATGGA
763500364	39137	NR_023343.1(RNU4ATAC):n.111G>A	RNU4ATAC	Apr 08, 2011	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	Osteodysplastic primordial dwarfism, type 1	germline	2	121530990	CCGCATCAACTAGAGCTTTTGCTTTATTTTGGTGCAATTTTTGGAAAAATGAAAACCTGTT
72558200	23458	NM_000392.4(ABCC2):c.3449G>A (p.Arg1150His)	ABCC2	Oct 05, 2001	MedGen:C0022350,OMIM:237500,Orphanet:ORPHA234,SNOMED CT:44553005	Dubin-Johnson syndrome	germline	10	99836125	TTTATGTGTCTACCTCCCGCCAGCTGAGGCGTCTGGACTCTGTCACCAGGTCCCCAATCTA
863225280	214504	NM_001287174.1(ABCC8):c.683G>A (p.Gly228Asp)	ABCC8	Apr 28, 2017	MedGen:C3888018,Orphanet:ORPHA276525;MedGen:CN517202	Familial hyperinsulinism;not provided	germline	11	17461722	TGCAGCCCTTCGTGAATCTGCTGTCCAAAGGCACCTACTGGTGGATGAACGCCTTCATCAA
121909549	33058	NM_000488.3(SERPINC1):c.1274G>A (p.Arg425His)	SERPINC1	Oct 01, 1989	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173904010	CTGCAAGTACCGCTGTTGTGATTGCTGGCCGTTCGCTAAACCCCAACAGGGTGACTTTCAA
372388344	431531	NM_022124.5(CDH23):c.9886G>A (p.Asp3296Asn)	CDH23	Sep 27, 2017	MedGen:CN432550,OMIM:617540	PITUITARY ADENOMA 5, MULTIPLE TYPES	germline	10	71815099	CACGGCAGCACGGGCACGCTGCTGGCCACCGACCTCAACAGCCTGCCCGAGGAAGACCAGA
587779476	106915	NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188995056	TTGTCTTTCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCAT
121964882	27243	NM_000490.4(AVP):c.262G>A (p.Gly88Ser)	AVP	Feb 01, 1991	Human Phenotype Ontology:HP:0000863,MedGen:C0687720,OMIM:125700,Orphanet:ORPHA178029,SNOMED CT:45369008	Neurohypophyseal diabetes insipidus	germline	20	3083037	GAGAACTACCTGCCGTCGCCCTGCCAGTCCGGCCAGAAGGCGTGCGGGAGCGGGGGCCGCT
397516101	52008	NM_000257.3(MYH7):c.1358G>A (p.Arg453His)	MYH7	Jul 11, 2017	MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23429004	TCAATGCCACCCTGGAGACCAAGCAGCCACGCCAGTACTTCATAGGAGTCCTGGACATCGC
397514698	59839	NM_002072.4(GNAQ):c.548G>A (p.Arg183Gln)	GNAQ	Jul 19, 2016	Gene:246230,Human Phenotype Ontology:HP:0025104,MedGen:C0340803,OMIM:163000,Orphanet:ORPHA211247;MedGen:C1274879,Orphanet:ORPHA2875,SNOMED CT:403545005;MedGen:C0038505,OMIM:185300	Capillary malformations, congenital;Port-wine stain with oculocutaneous melanosis;Sturge-Weber syndrome	somatic	9	77797577	TGCCTACGCAACAAGATGTGCTTAGAGTTCGAGTCCCCACCACAGGGATCATCGAATACCC
118192200	22430	NM_172107.3(KCNQ2):c.620G>A (p.Arg207Gln)	KCNQ2	Jul 12, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:C3149075;MedGen:CN517202	Early infantile epileptic encephalopathy 7;Seizures, benign familial neonatal, 1, and/or myokymia;not provided	germline	20	63444729	TCCGGAGCCTGCGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCAC
80358018	97145	NM_007294.3(BRCA1):c.81-1G>A	BRCA1	Aug 26, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43115780	ATTTTCTTTTTCTCCCCCCCTACCCTGCTAGTCTGGAGTTGATCAAGGAACCTGTCTCCAC
1064793904	406320	NM_000094.3(COL7A1):c.7688G>A (p.Gly2563Asp)	COL7A1	Jul 20, 2015	MedGen:CN517202	not provided	germline	3	48568854	CTGAATCCCTCTCCTGGTCACTCCCACAGGGCAGCAAGGGAGAGCCTGGTGACAAGGGCTC
587779595	107055	NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005351	CAAAATGTTTTTCATTCCTTTGTATACAGGGTGAAAGTGGGAAACCAGGAGCTAACGGTCT
-1	432148	NM_000444.5(PHEX):c.1103G>A (p.Trp368Ter)	PHEX	Nov 06, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22111490	TTAACAGGACCATTGCCAACTATTTGGTGTGGAGAATGGTTTATTCCAGAATTCCAAACCT
796053365	202306	NM_003165.3(STXBP1):c.1061G>A (p.Cys354Tyr)	STXBP1	Oct 06, 2016	MedGen:CN517202	not provided	germline	9	127673212	ACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAA
886041507	264944	NM_194277.2(FRMD7):c.905+1G>A	FRMD7	Feb 10, 2016	MedGen:CN517202	not provided	germline	X	132082362	CTGCAGCAAGGGTTCCAGTTTCCGCTATAGGTAATTAAACAATGCACATAGGCAAACTGCT
587776667	22859	NM_000314.6(PTEN):c.253+1G>A	PTEN	Jul 05, 2017	MedGen:CN072330,OMIM:158350;Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	Cowden syndrome 1;Endometrial carcinoma;PTEN hamartoma tumor syndrome;not provided	germline	10	87931090	ATTATGACACCGCCAAATTTAATTGCAGAGGTAGGTATGAATGTACTGTACTATGTTGTAT
771732955	248760	NM_003896.3(ST3GAL5):c.601G>A (p.Gly201Arg)	ST3GAL5	Sep 16, 2016	MedGen:C1836824,OMIM:609056,Orphanet:ORPHA171714	Amish infantile epilepsy syndrome	germline	2	85847922	ACCTGTCGGCGCTGTGTGGTTATTGGAAGCGGAGGAATACTGCACGGATTAGAACTGGGCC
794727944	196117	NM_001080463.1(DYNC2H1):c.12177+1G>A	DYNC2H1	Feb 10, 2015	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Short-rib thoracic dysplasia 3 with or without polydactyly	germline	11	103358360	GTCCTCAATCTCTGGAAGAAACTAAACCAGGTTAGTAGTGGAATATTCTTCTGATTCTTTT
180177161	200601	NM_000030.2(AGXT):c.1079G>A (p.Arg360Gln)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878721	TCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCG
1135402872	425161	NM_001042492.2(NF1):c.5492G>A (p.Trp1831Ter)	NF1	Feb 02, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31327722	TCCAGTCTATCATTCATATCCGGACCCGCTGGGAACTGTCACAGCCCGACTCTATCCCCCA
121913006	31849	NM_001943.4(DSG2):c.146G>A (p.Arg49His)	DSG2	Jun 09, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1857777,OMIM:610193;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 10;not provided	germline	18	31519867	CTAAACATCCTCATTTAGTGCGGCAAAAGCGCGCCTGGATCACCGCCCCCGTGGCTCTTCG
886041749	264355	NM_000089.3(COL1A2):c.2054G>A (p.Gly685Asp)	COL1A2	Apr 21, 2017	MedGen:CN517202	not provided	germline	7	94419526	AGGGTGCTCCTGGTGCTGTAGGTGCCCCTGGTCCTGCTGGAGCCACAGGTGACCGGGTAAG
201422368	190033	NM_178454.5(DRAM2):c.494G>A (p.Trp165Ter)	DRAM2	May 12, 2015	MedGen:CN231743,OMIM:616502;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Cone-rod dystrophy 21;Retinal dystrophy	germline	1	111120539	TCTTCTGGATCAGACTGTTGTTGGTTATCTGGTGTGGAGTAAGTGCACTTAGCAGTATCCT
121908419	20395	NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser)	ACAD8	Aug 18, 2016	MedGen:C1969809,OMIM:611283,Orphanet:ORPHA79159,SNOMED CT:445274004;MedGen:CN517202	Deficiency of isobutyryl-CoA dehydrogenase;not provided	germline;unknown	11	134262556	AACCAGGCCTTGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCTGTTCAGCAGT
587776445	165895	NM_002775.4(HTRA1):c.821G>A (p.Arg274Gln)	HTRA1	Sep 11, 2014	MedGen:C1838577,OMIM:600142,Orphanet:ORPHA199354	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	germline	10	122506734	TCCTGCTGCTTGGCCGCTCCTCAGAGCTGCGGCCGGGAGAGTTCGTGGTCGCCATCGGAAG
80358219	27229	NM_001166120.1(HSD3B2):c.424G>A (p.Glu142Lys)	HSD3B2	Jun 01, 2002	MedGen:C0342471,OMIM:201810,SNOMED CT:54470008	3 beta-Hydroxysteroid dehydrogenase deficiency	germline	1	119421925	TCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCA
879255045	246364	NM_000527.4(LDLR):c.1843G>A (p.Glu615Lys)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116996	CTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCAC
121909715	31219	NM_000177.4(GSN):c.640G>A (p.Asp214Asn)	GSN	Apr 13, 2017	MedGen:C1622345,OMIM:105120,SNOMED CT:419398009;MedGen:CN517202	Meretoja syndrome;not provided	germline	9	121310819	CCTGTGTCCTGGGAGAGCTTCAACAATGGCGACTGCTTCATCCTGGACCTGGGCAACGTGA
-1	433316	NM_000132.3(F8):c.5186G>A (p.Gly1729Glu)	F8	May 02, 2017	MedGen:CN169374	not specified	germline	X	154928604	TTGCTGCAGTGGAGAGGCTCTGGGATTATGGGATGAGTAGCTCCCCACATGTTCTAAGAAA
140629318	195844	NM_000018.3(ACADVL):c.637G>A (p.Ala213Thr)	ACADVL	Jun 14, 2016	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005	Very long chain acyl-CoA dehydrogenase deficiency	germline	17	7221966	GCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGT
879253822	224658	NM_000255.3(MUT):c.-39-1G>A	MUT	Oct 23, 2017	MedGen:C1855114,OMIM:251000;MedGen:CN517202	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	germline	6	49459506	AAATGTTTTTACTCTATGTTTCTTTTTCTAGGTCAGTTCTTATTTCTATTGGGTGTTTCCA
121909010	22172	NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter)	CFTR	Dec 13, 1990	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117652915	CCTATGAACAGTGGAGTGATCAAGAAATATGGAAAGTTGCAGATGAGGTAAGGCTGCTAAC
1057519613	185674	NM_001128430.1(SMARCAD1):c.1281+665G>A	SMARCAD1	Dec 01, 2014	MedGen:C1851080,OMIM:136000	Adermatoglyphia	germline	4	94253672	GCGTTAGGTGAAGGGAAGGCATAAGCACTGGTAAGTACACTTTGCATGATCATTTTCTGGA
104894840	25771	NM_000169.2(GLA):c.680G>A (p.Arg227Gln)	GLA	Dec 15, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline	X	101398906	CAGAAATCCGACAGTACTGCAATCACTGGCGAAATTTTGCTGACATTGATGATTCCTGGAA
281860269	38766	NM_005211.3(CSF1R):c.1897G>A (p.Glu633Lys)	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150060934	CATGCTGATGAGAAGGAGGCCCTCATGTCCGAGCTGAAGATCATGAGCCACCTGGGCCAGC
121913053	31583	NM_000186.3(CFH):c.2876G>A (p.Cys959Tyr)	CFH	Oct 03, 1997	MedGen:C0398777,OMIM:609814,Orphanet:ORPHA200421,SNOMED CT:234622003	Factor H deficiency	germline	1	196740712	ATCAGTATGGAGAAGAAGTTACGTACAAATGTTTTGAAGGTTTTGGAATTGATGGGCCTGC
397516677	53378	NM_001399.4(EDA):c.871G>A (p.Gly291Arg)	EDA	Apr 04, 2016	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468;MedGen:CN517202	Hypohidrotic ectodermal dysplasia;not provided	germline	X	70033475	CCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCT
199469643	106422	NM_017415.2(KLHL3):c.1292G>A (p.Arg431Gln)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137637323	GGTTCTTTGTGGCCCCGATGAACACGCGGCGGAGCAGTGTGGGTGTGGGCGTTGTGGAGGG
121909602	31914	NM_001863.4(COX6B1):c.59G>A (p.Arg20His)	COX6B1	Jun 01, 2008	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	19	35651302	AGAACTACAAGACCGCCCCTTTTGACAGCCGCTTCCCCAACCAGAACCAGACTAGAAACTG
1057519701	362782	NM_000222.2(KIT):c.1468G>A (p.Glu490Lys)	KIT	Oct 02, 2014	Human Phenotype Ontology:HP:0100522,MeSH:D013945,MedGen:C0040100,Orphanet:ORPHA99867	Thymoma	somatic	4	54725978	TCTAGTGCATTCAAGCACAATGGCACGGTTGAATGTAAGGCTTACAACGATGTGGGCAAGA
28939710	21282	NM_004700.3(KCNQ4):c.961G>A (p.Gly321Ser)	KCNQ4	Sep 27, 2016	MedGen:C2677637,OMIM:600101	DFNA 2 Nonsyndromic Hearing Loss	germline	1	40820180	GCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACC
587782603	419734	NM_000314.6(PTEN):c.493G>A (p.Gly165Arg)	PTEN	Aug 16, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87952118	TTTGGCTTCTCTTTTTTTTCTGTCCACCAGGGAGTAACTATTCCCAGTCAGAGGCGCTATG
121434427	21748	NM_004550.4(NDUFS2):c.683G>A (p.Arg228Gln)	NDUFS2	Feb 01, 2001	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	1	161209912	CTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTC
199954546	437659	NM_003494.3(DYSF):c.2810+1G>A	DYSF	Oct 11, 2017	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	unknown	2	71568339	TGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAG
777046879	200684	NM_138413.3(HOGA1):c.973G>A (p.Gly325Ser)	HOGA1	Nov 27, 2014	MedGen:C3150878,OMIM:613616,Orphanet:ORPHA93600	Primary hyperoxaluria, type III	germline	10	97611648	GAGGCACTGCGCATGGATTTCACCAGCAACGGCTGGCTCTGAGGGCAGGCAGGGTCCATGG
964335184	424386	NM_001080483.2(MYMK):c.298G>A (p.Gly100Ser)	MYMK	Jul 19, 2017	MedGen:C1850746,OMIM:254940,Orphanet:ORPHA1358,SNOMED CT:429753001	Congenital nonprogressive myopathy with Moebius and Robin sequences	germline	9	133518975	GAACCCAAGAGGTCAACATTTGTGATGTTCGGCGTCCTGACCATTGCTGTGCGGATCTACC
587784027	168499	NM_133433.3(NIPBL):c.6954+1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37049302	CTAAATCAAGGTCTTATTCATCCAGTTCAGGTAAGCATGTTTTATGGCAGCAGCACTTACT
886039401	259878	NM_194456.1(KRIT1):c.1146+1G>A	KRIT1	Apr 23, 2015	MedGen:CN517202	not provided	germline	7	92226525	ATTCTCCTAAACCACCCAGAAACGGATAGAGTAAGTTATTTTCCAGGTTTTTAAAAATAAT
886043909	272713	NM_004006.2(DMD):c.2861G>A (p.Trp954Ter)	DMD	Jun 21, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32472252	ATCAGGAGACCATGAGTGCCATCAGGACATGGGTCCAGCAGTCAGAAACCAAACTCTCCAT
387906952	39571	NM_000153.3(GALC):c.1630G>A (p.Asp544Asn)	GALC	Dec 01, 2010	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005	Galactosylceramide beta-galactosidase deficiency	germline	14	87945593	CTCAACCAGAGACCCATTACATGGGCTGCCGATGCATCCAACACAATCAGTATTATAGGAG
137852210	25825	NM_194277.2(FRMD7):c.70G>A (p.Gly24Arg)	FRMD7	Mar 01, 2011	MedGen:C1839580,OMIM:310700	Infantile nystagmus, X-linked	germline	X	132100704	TCTTTTTGTTTTGTTTAGCAAAAGTCATCCGGGAAGGCATTGTTTAACCTGAGTTGCAGCC
746307931	262357	NM_004937.2(CTNS):c.922G>A (p.Gly308Arg)	CTNS	Oct 06, 2016	MedGen:CN035091,Orphanet:ORPHA213,SNOMED CT:190681003	Cystinosis	germline	17	3659927	AGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCC
863225215	214352	NM_015272.4(RPGRIP1L):c.2305-1G>A	RPGRIP1L	Feb 23, 2015	MedGen:C1969053,OMIM:611560	Joubert syndrome 7	unknown	16	53646004	TTCCTTAATATAAATATGTATGTTTTTCCAGTTAAGTCAGCAAGCACCCAAAACTGCTCAA
137854545	15422	NM_000308.3(CTSA):c.448G>A (p.Val150Met)	CTSA	Dec 01, 1996	MedGen:C0268233,OMIM:256540,Orphanet:ORPHA351,SNOMED CT:35691006;MedGen:CN068414	Combined deficiency of sialidase AND beta galactosidase;Galactosialidosis, early infantile	germline;inherited	20	45892434	AATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTT
1060501086	400712	NM_000138.4(FBN1):c.1982G>A (p.Cys661Tyr)	FBN1	Jul 18, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48503918	CCTGTTTAGACACACACATGCGGAGCACATGCTATGGTGGATACAAGAGAGGCCAGTGTAT
111033790	36625	NM_000155.3(GALT):c.947G>A (p.Trp316Ter)	GALT	May 22, 2014	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline;unknown	9	34649452	GATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCT
199718602	223695	NM_013447.3(ADGRE2):c.1475G>A (p.Cys492Tyr)	ADGRE2	Jun 24, 2016	Gene:29764,MedGen:C1852146,OMIM:125630	Vibratory urticaria	germline	19	14755069	GTGTCTTCTGGGAGCATGGCCAGAATGGATGTGGTCACTGGGCCACCACAGGCTGCAGCAC
281874675	35780	NM_000495.4(COL4A5):c.1726G>A (p.Gly576Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597515	CCTGGAGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGC
587779656	107145	NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188990106	TTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATT
104894124	27839	NM_004959.4(NR5A1):c.43G>A (p.Val15Met)	NR5A1	Mar 01, 2007	MedGen:C2751824,OMIM:612965,Orphanet:ORPHA98085	46,XY sex reversal, type 3	germline	9	124503353	TACGACGAGGACCTGGACGAGCTGTGCCCCGTGTGCGGGGACAAGGTGTCCGGCTACCACT
879254452	245441	NM_000527.4(LDLR):c.260G>A (p.Trp87Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102733	GCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAA
121909504	33405	NM_000751.2(CHRND):c.238G>A (p.Glu80Lys)	CHRND	Jul 01, 2001	MedGen:C4225371,OMIM:616322	Myasthenic syndrome, congenital, 3b, fast-channel	germline	2	232527440	GAGGAGACCCTCACTACCAATGTGTGGATAGAGCACGTAAGAATGCCCCTCCCAGCCGGGC
1057516164	354126	NM_023067.3(FOXL2):c.612G>A (p.Trp204Ter)	FOXL2	Nov 03, 2016	MedGen:C0220663,OMIM:110100,Orphanet:ORPHA126	Blepharophimosis, ptosis, and epicanthus inversus	germline	3	138946111	CCTGCAGTCTGGCTTCCTCAACAACTCGTGGCCGCTACCGCAGCCTCCCTCACCCATGCCC
267607149	33474	NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys)	TRPV4	Apr 02, 2014	MedGen:C0265281,OMIM:156530,Orphanet:ORPHA2635,SNOMED CT:22764001;MedGen:C0027868,Orphanet:ORPHA68381;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:C3159322,OMIM:184095;MedGen:C0265280,OMIM:184252,Orphanet:ORPHA93314	Metatrophic dysplasia;Neuromuscular Diseases;Skeletal dysplasia;Spondyloepiphyseal dysplasia Maroteaux type;Spondylometaphyseal dysplasia, Kozlowski type	germline	12	109784385	CACTGGAACCAGAACTTGGGCATCATCAACGAGGACCCGGGCAAGAATGAGACCTACCAGT
751590073	200152	NM_000048.3(ASL):c.545G>A (p.Arg182Gln)	ASL	Dec 04, 2015	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66086764	CTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAA
863223361	205474	NM_001376.4(DYNC1H1):c.1738G>A (p.Glu580Lys)	DYNC1H1	Oct 31, 2014	Human Phenotype Ontology:HP:0002269,MedGen:C1837249	Abnormality of neuronal migration	de novo	14	101985963	GATCAGCTTGGCACAGCCAAGAATGCCAACGAGATGTTTAGGATTTTCTCCAGGTTTAATG
121918668	27723	NM_000549.4(TSHB):c.145G>A (p.Gly49Arg)	TSHB	Aug 01, 1989	MedGen:C0271789,OMIM:275100,Orphanet:ORPHA90674,SNOMED CT:82598004	Secondary hypothyroidism	germline	1	115033507	TGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCAT
747724352	485749	NM_000197.1(HSD17B3):c.397G>A (p.Gly133Arg)	HSD17B3	Sep 28, 2010	MedGen:C0033804	Pseudohermaphroditism	germline	9	96251474	TTTTGCTTCTTTCTGCCAGTCAACAATGTCGGAATGCTTCCAAACCTTCTCCCAAGCCATT
368488511	409244	NM_014080.4(DUOX2):c.3329G>A (p.Arg1110Gln)	DUOX2	Feb 24, 2017	MedGen:CN517202	not provided	germline	15	45099748	CCATGTGCCGCAACCTCATAACCTTCCTGCGAGAGACTTTCCTCAACCGCTATGTGCCTTT
886041462	264498	NM_004523.3(KIF11):c.1702+1G>A	KIF11	Dec 23, 2015	MedGen:CN517202	not provided	germline	10	92632694	CCATGCTAGAAGTACATAAGACCTTATTTGGTAAGTTCAGGCTGTTCTGTTCTAGTCTTGA
121918254	16923	NM_000255.3(MUT):c.1867G>A (p.Gly623Arg)	MUT	Jan 31, 2017	MedGen:C1855115;MedGen:C1855114,OMIM:251000;MedGen:CN517202	METHYLMALONIC ACIDURIA, mut(0) TYPE;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	germline	6	49440295	CGCAGACCTCGTCTTCTTGTAGCAAAAATGGGACAAGATGGCCATGACAGAGGAGCAAAAG
-1	440187	NM_001080463.1(DYNC2H1):c.8311+1G>A	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	11	103203777	TTGGACCAGTCTTCAATTACTTCACATATAGTAAGTGACATAGAATTCATTAATCAAATCA
121434358	16986	NM_030957.3(ADAMTS10):c.73G>A (p.Ala25Thr)	ADAMTS10	Dec 01, 2008	MedGen:C1869114,OMIM:277600	Weill-Marchesani syndrome 1	germline	19	8605638	GGGCTGGGCCTCATGTTCGAGGTCACGCACGCCTTCCGGTCTCAAGGTAGGGGAAGTCTGG
121909534	33217	NM_000034.3(ALDOA):c.619G>A (p.Glu207Lys)	ALDOA	Apr 25, 1996	MedGen:C0272066,OMIM:611881,Orphanet:ORPHA57,SNOMED CT:111578003	HNSHA due to aldolase A deficiency	germline	16	30069384	CATGACTTGAAGCGCTGCCAGTATGTGACCGAGAAGGTAAATGGCTACCTGCCTGACCAGT
62507322	98637	NM_000277.2(PAH):c.1200-1G>A	PAH	Jul 27, 2015	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102840516	CCTTCACTCAAGCCTGTGGTTTTGGTCTTAGGAACTTTGCTGCCACAATACCTCGGCCCTT
80358197	15725	NM_000147.4(FUCA1):c.1160G>A (p.Trp387Ter)	FUCA1	Aug 01, 1993	MedGen:C0016788,OMIM:230000,Orphanet:ORPHA349,SNOMED CT:64716005	Fucosidosis	germline	1	23848649	TGCAATGGGAAAAGAACACAACATCTGTATGGTGAGTCTTGTCTTCTGTTGTGTGTAAGAA
-1	472546	NM_000465.3(BARD1):c.1385G>A (p.Trp462Ter)	BARD1	May 23, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214769242	GTGATCCAAATGTTAAAGACCATGCTGGATGGACACCATTGGTAGTTGTCTGGTTTTTATT
-1	441240	NM_000370.3(TTPA):c.366G>A (p.Trp122Ter)	TTPA	Nov 08, 2016	MedGen:CN517202	not provided	germline	8	63066090	ATGATATGCTTTATTTTTTTTAGCACACTGGGACCCCAAAGTTTTTACAGCTTATGACGTA
121909557	33059	NM_000488.3(SERPINC1):c.1240G>A (p.Ala414Thr)	SERPINC1	Jan 01, 1996	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173904044	GACCTGCAGGTAAATGAAGAAGGCAGTGAAGCAGCTGCAAGTACCGCTGTTGTGATTGCTG
199472807	67677	NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg)	KCNQ1	Jul 14, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;not provided	germline	11	2777002	GTCCTTCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAG
863223307	31014	NM_000515.4(GH1):c.291+5G>A	GH1	Sep 01, 1999	MedGen:C0271567,OMIM:173100,Orphanet:ORPHA231679,SNOMED CT:237687003	Autosomal dominant isolated somatotropin deficiency	germline	17	63918012	ACAGGGAGGAAACACAACAGAAATCCGTGAGTGGATGCCTTCTCCCCAGGCGGGGATGGGG
104886060	35632	NM_000495.4(COL4A5):c.574G>A (p.Gly192Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108575937	CAGGGCCTACCTGGTCCCACTGGTATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTT
397515550	76585	NM_004595.4(SMS):c.200G>A (p.Gly67Glu)	SMS	Sep 01, 2013	MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063	Snyder Robinson syndrome	germline	X	21971926	GCTTTGCCAATTTGAGAATTTACCCACATGGATTGGTGTTGCTGGACCTTCAGAGTTATGA
794728335	197645	NM_000138.4(FBN1):c.6425G>A (p.Cys2142Tyr)	FBN1	Oct 03, 2014	MedGen:CN517202	not provided	germline	15	48437032	AAGAACCCGATGTCTGTAAACATGGACAGTGCATCAATACAGATGGTTCCTATCGCTGCGA
267607108	33504	NM_001042425.1(TFAP2A):c.874G>A (p.Glu292Lys)	TFAP2A	Apr 01, 2010	MedGen:C0376524,OMIM:113620	Branchiooculofacial syndrome	germline	6	10400587	CTGGCTCCCTCCTCTCCCCTCTTGCCAGGAGAAGCTGTCCACCTAGCCAGGGACTTTGGGT
199422274	47888	NR_001566.1(TERC):n.143G>A	TERC	May 10, 2012	MedGen:C1851970,OMIM:127550	Dyskeratosis congenita autosomal dominant	not provided	3	169764918	TTTCAGCGGGCGGAAAAGCCTCGGCCTGCCGCCTTCCACCGTTCATTCTAGAGCAAACAAA
63750209	426843	NM_001171.5(ABCC6):c.3818G>A (p.Arg1273Lys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16157727	GGCAGATCGAGTTCCGGGACTTTGGGCTAAGATACCGACCTGAGCTCCCGCTGGCTGTGCA
397514381	36373	NM_000060.4(BTD):c.709G>A (p.Ala237Thr)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644565	GTGGATCTCATCACCTTTGATACCCCCTTTGCTGGCAGGTTTGGCATCTTCACATGCTTTG
794728786	196710	NM_001035.2(RYR2):c.12470G>A (p.Arg4157Gln)	RYR2	Apr 23, 2015	MedGen:CN517202	not provided	germline	1	237784182	GGGTCTATTTTGAAATCAGTGAGTCCAGCCGAACCCAGTGGGAGAAGCCCCAGGTCAAGGA
587781457	150767	NM_024675.3(PALB2):c.2712G>A (p.Trp904Ter)	PALB2	Oct 21, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	16	23626272	AGTTTCTCTTTGGAAAGCTCTGGATGCTTGGCAGTGGGAAAAACTTTATACCTGGCACTTC
796053283	203998	NM_006359.2(SLC9A6):c.1631+1G>A	SLC9A6	Jan 08, 2015	MedGen:CN517202	not provided	germline	X	136033494	TTTCCGGATGTGGTACAACTTTGATCATAAGTATCCTTAATTGAGGGAAAAAAAAAAAGGA
-1	467938	NM_000088.3(COL1A1):c.3825G>A (p.Trp1275Ter)	COL1A1	Dec 13, 2016	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline	17	50186497	CTTGCCCTGCCCTACCACAGGAGAGTACTGGATTGACCCCAACCAAGGCTGCAACCTGGAT
267606640	16147	NM_000642.2(AGL):c.3980G>A (p.Trp1327Ter)	AGL	Jun 26, 2017	MedGen:C1968739;MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008;MedGen:CN517202	Glycogen storage disease IIIa;Glycogen storage disease type III;not provided	germline;paternal;unknown	1	99913557	GAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAA
879254781	245971	NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111522	AGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGC
587779500	106942	NM_000090.3(COL3A1):c.1475G>A (p.Gly492Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188995065	ATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCCAGGAGA
28933402	27807	NM_003172.3(SURF1):c.371G>A (p.Gly124Glu)	SURF1	Feb 01, 2000	MedGen:C1850599	Leigh syndrome due to mitochondrial complex IV deficiency	germline	9	133353893	ATCTGGAGTATAGGCCAGTGAAGGTCAGGGGGTGCTTTGACCATTCCAAGGAGCTGTATAT
-1	434904	NM_000070.2(CAPN3):c.518G>A (p.Trp173Ter)	CAPN3	-	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	unknown	15	42387772	CTTCTGTGCAGTTCTGGCGCTATGGAGAGTGGGTGGACGTGGTTATAGATGACTGCCTGCC
863223315	38682	NM_002860.3(ALDH18A1):c.1923+1G>A	ALDH18A1	Aug 01, 2011	MedGen:C0268354,OMIM:219150,Orphanet:ORPHA2962,SNOMED CT:238826008,SNOMED CT:59252009	Cutis laxa-corneal clouding-oligophrenia syndrome	germline	10	95613741	CAGATCATTGATATGCTGAGAGTGGAACAGGTAAGAGTTCCATAGGACTAGTACATTACTT
886038108	248973	NM_000059.3(BRCA2):c.4689G>A (p.Trp1563Ter)	BRCA2	Dec 21, 2016	MedGen:C2675520,OMIM:612555;MedGen:CN169374	Breast-ovarian cancer, familial 2;not specified	germline	13	32339044	TAGTGAAATCACCAGTTTTAGCCATCAATGGGCAAAGACCCTAAAGTACAGAGAGGCCTGT
387907167	40269	NM_004285.3(H6PD):c.1076G>A (p.Gly359Asp)	H6PD	Oct 01, 2008	MedGen:C3551716,OMIM:604931	Cortisone reductase deficiency 1	germline	1	9263569	GGGAGGGCGTGCCTTTCATCCTGATGTCTGGCAAAGCCTTGGACGAGAGAGTGGGCTACGC
1085307816	415367	NM_001845.5(COL4A1):c.324+1G>A	COL4A1	Apr 03, 2017	MedGen:CN517202	not provided	germline	13	110212573	TCTGGCTACCCTGGAAACCCAGGACTTCCCGTATGTATAGAAAACGTGCTCTACTTCTTTT
933422777	359015	NM_006412.3(AGPAT2):c.492+1G>A	AGPAT2	Dec 08, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136676960	GACCTGGGCGAGCGCATGGTCAGGGAGAACGTGAGTGTGCAGGGCCGGGCTCGGTGGGGTT
797044867	205278	NM_001845.5(COL4A1):c.2494G>A (p.Gly832Arg)	COL4A1	Nov 26, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	13	110178196	CCTGGAATAAAAGGAGAGAAGGGTTTCCCCGGATTCCCTGGACTGGACATGCCGGGCCCTA
386834187	16409	NM_153704.5(TMEM67):c.1575+1G>A	TMEM67	Feb 01, 2006	MedGen:C1846357,OMIM:607361	Meckel syndrome type 3	germline	8	93791320	GATCATGGAGAAGCACATGTCCAGACAGATGTAAGTTTATTTTAACCTTTTAAAATATATA
199570811	245442	NM_000527.4(LDLR):c.261G>A (p.Trp87Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102734	CCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAAC
121908611	21142	NM_004820.4(CYP7B1):c.1250G>A (p.Arg417His)	CYP7B1	Jul 12, 2017	MedGen:C0037772;MedGen:C1849115,OMIM:270800,Orphanet:ORPHA100986;MedGen:CN517202	Spastic paraplegia;Spastic paraplegia 5A;not provided	germline	8	64596913	ATTCTTCCTTACAGGAGTTTAGATATGATCGTTTTATAGAAGATGGTAAGAAGAAAACCAC
886041197	264912	NM_001958.3(EEF1A2):c.271G>A (p.Asp91Asn)	EEF1A2	Oct 13, 2016	MedGen:CN517202	not provided	germline	20	63495909	GAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAGA
397507554	21189	NM_001011.3(RPS7):c.147+1G>A	RPS7	Aug 01, 2013	MedGen:C2675511,OMIM:612563	Diamond-Blackfan anemia 8	germline	2	3575889	CTCAGGGAGCTGAATATTACGGCAGCTAAGGTAAGCTGGCGCTCCCTCGGCTGGGAGGGAG
796053155	201391	NM_021007.2(SCN2A):c.4877G>A (p.Arg1626Gln)	SCN2A	Nov 28, 2015	MedGen:CN517202	not provided	de novo;germline	2	165388683	AAAAGTATTTTGTGTCCCCTACCCTGTTCCGAGTGATCCGTCTTGCCAGGATTGGCCGAAT
398123110	98236	NM_000033.3(ABCD1):c.346G>A (p.Gly116Arg)	ABCD1	Apr 12, 2013	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153725612	TTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGG
886041248	264822	NM_001083962.1(TCF4):c.655G>A (p.Asp219Asn)	TCF4	May 26, 2016	MedGen:CN517202	not provided	germline	18	55279551	AGCACTTTCCCTAGCTCCTTCTTCATGCAAGGTAAGATGCTGCTGCTTCTGAGGGAAAGGC
61751413	105076	NM_000350.2(ABCA4):c.302+1G>A	ABCA4	Dec 21, 2017	MedGen:CN517202	not provided	germline	1	94111437	TGGAATTGTGTCAAACTATAACAACTCCATGTAAGTGTTGAGATCCCTACCATGCAGGGGA
104886279	36075	NM_000495.4(COL4A5):c.4342G>A (p.Gly1448Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108687526	GATGGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCAGGTCCCCCTGGAACCTCCTCTG
793888506	44195	NM_018475.4(TMEM165):c.792+182G>A	TMEM165	Jul 18, 2012	MedGen:C3553571,OMIM:614727,Orphanet:ORPHA314667	Congenital disorder of glycosylation type 2k	germline	4	55418167	GCCTTCTCCCAGTTCCTGCTACCTGCAGGTGAAATTCTTGTAACCAAGCTCAGTTGGGCTC
151344517	39382	NM_006796.2(AFG3L2):c.2011G>A (p.Gly671Arg)	AFG3L2	May 17, 2011	MedGen:C1853249,OMIM:610246,Orphanet:ORPHA101109	Spinocerebellar ataxia 28	germline	18	12337505	ATTGTTCAGTTTGGCATGAATGAAAAGGTTGGGCAAATCTCCTTTGACCTCCCACGTCAGG
121918129	15438	NM_019892.5(INPP5E):c.1304G>A (p.Arg435Gln)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:CN119531,OMIM:213300	Joubert syndrome;Joubert syndrome 1	germline;unknown	9	136432562	CCACAGCAGGTGACGGGAAGGTGGCGGAGCGGCTGCTGGACTACACCAGGACTGTACAAGC
200378205	177147	NM_000153.3(GALC):c.1592G>A (p.Arg531His)	GALC	Jun 30, 2017	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005;MedGen:CN517202	Galactosylceramide beta-galactosidase deficiency;not provided	germline;unknown	14	87945631	AAGACCCTGGCGAGCATCACTTCACGCTACGCCAAGTTCTCAACCAGAGACCCATTACATG
61748467	39968	NM_000552.4(VWF):c.2279G>A (p.Arg760His)	VWF	Oct 15, 2009	MedGen:CN517202;MedGen:C1264039,OMIM:193400,Orphanet:ORPHA166078,SNOMED CT:128106003	not provided;von Willebrand disease type 1	germline	12	6046725	ACGCTGTCCTCAGCAGTCCCCTGTCTCATCGCAGTGAGTACTGTCCCCCTGGAAGGCCCAT
63750783	30442	NM_000518.4(HBB):c.47G>A (p.Trp16Ter)	HBB	Jun 30, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:C0271980,SNOMED CT:86715000;MedGen:CN517202;MedGen:CN169374	beta Thalassemia;beta^0^ Thalassemia;not provided;not specified	germline;unknown	11	5226975	CTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGG
-1	427887	NM_014795.3(ZEB2):c.2072G>A (p.Trp691Ter)	ZEB2	Oct 02, 2015	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144399115	TGGGCCTTCCTCAGGAATTTGTGAAGGAATGGTTTGAACAACGAAAAGTCTACCAGTACTC
587779677	107182	NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188974519	CATGATGAGCTTTGTGCAAAAGGGGAGCTGGCTACTTCTCGCTCTGCTTCATCCCACTATT
80358201	23761	NM_005267.4(GJA8):c.142G>A (p.Glu48Lys)	GJA8	Jul 01, 1999	MedGen:C1861828,OMIM:116200	Cataract 1	germline	1	147908097	GGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGC
267607500	77388	NM_002055.4(GFAP):c.619G>A (p.Glu207Lys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44913430	CCCTGGTACCGCTTCTCTCACCCTGGTCAGGAGGTTCGGGAACTCCAGGAGCAGCTGGCCC
121917976	79450	NM_006920.4(SCN1A):c.4901G>A (p.Arg1634Gln)	SCN1A	Nov 16, 2016	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline;unknown	2	165992341	TCCGAGTGATCCGTCTTGCTAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGCAAAGGG
121913250	172332	NM_002524.4(NRAS):c.34G>A (p.Gly12Ser)	NRAS	May 31, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MedGen:C0278701;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of stomach;Colorectal Neoplasms;Malignant melanoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Myelodysplastic syndrome;Non-small cell lung cancer;Rasopathy;not provided	germline;somatic	1	114716127	ACTGAGTACAAACTGGTGGTGGTTGGAGCAGGTGGTGTTGGGAAAAGCGCACTGACAATCC
1057517828	359355	NM_000348.3(SRD5A2):c.100G>A (p.Gly34Arg)	SRD5A2	May 10, 2016	MedGen:CN517202	not provided	germline	2	31580801	GCCTTGTACGTCGCGAAGCCCTCCGGCTACGGGAAGCACACGGAGAGCCTGAAGCCGGCGG
587777269	131963	NM_001017975.4(HFM1):c.2206G>A (p.Gly736Ser)	HFM1	Mar 06, 2014	MedGen:C3810376,OMIM:615724	Premature ovarian failure 9	germline	1	91350738	ATCAGAGCCTTGAAAAATCCATCTCATTATGGTTTGTTACTTTGACTTGGAAAAGTAGTAA
104893742	22738	NM_003865.2(HESX1):c.445G>A (p.Glu149Lys)	HESX1	Feb 01, 2007	MedGen:C2750027	Growth hormone deficiency with pituitary anomalies	germline	3	57198405	GAAGACTTAGCTCAAAAATTGAATCTAGAGGAAGACAGAATCCAGGTAATTTTCAAATTTA
1085307857	415250	NM_001197104.1(KMT2A):c.4343G>A (p.Cys1448Tyr)	KMT2A	Mar 27, 2017	MedGen:CN517202	not provided	germline	11	118488624	TTCCCATGTTCTTACTATAGTTTGTGTATTGCCAAGTCTGTTGTGAGCCCTTCCACAAGTT
137854590	25964	NM_000397.3(CYBB):c.466G>A (p.Ala156Thr)	CYBB	Jun 01, 1991	MedGen:C1844378;MedGen:CN517202	Granulomatous disease, chronic, X-linked, variant;not provided	germline	X	37793793	GACAGGCAAAATGAAAGTTATCTCAATTTTGCTCGAAAGAGAATAAAGGTAAGCCTCTCAT
80338673	17821	NM_000158.3(GBE1):c.1571G>A (p.Arg524Gln)	GBE1	Apr 26, 2017	MedGen:C4017118;MedGen:CN734585;MedGen:C0017923,OMIM:232500,SNOMED CT:11179002	Adult polyglucosan body neuropathy;Glycogen storage disease IV, combined hepatic and myopathic;Glycogen storage disease, type IV	not provided	3	81577972	ATCGTGGAATACAGCTTCATAAAATGATTCGACTCATTACGCATGGGCTTGGTGGAGAAGG
104893832	23100	NM_004625.3(WNT7A):c.325G>A (p.Ala109Thr)	WNT7A	Aug 01, 2006	MedGen:C1856728,OMIM:228930,Orphanet:ORPHA2854	Fuhrmann syndrome	germline	3	13854777	GCAGGGAGCCGGGAGGCTGCGTTCACCTACGCCATCATTGCCGCCGGCGTGGCCCACGCCA
879255268	227504	NM_198291.2(SRC):c.1579G>A (p.Glu527Lys)	SRC	Oct 07, 2016	MedGen:C4310789,OMIM:616937,Orphanet:ORPHA480851	Thrombocytopenia 6	germline	20	37403347	GCCTTCCTGGAGGACTACTTCACGTCCACCGAGCCCCAGTACCAGCCCGGGGAGAACCTCT
794726866	190184	NM_000921.4(PDE3A):c.1339G>A (p.Ala447Thr)	PDE3A	Jun 01, 2015	Gene:8080,MedGen:C1862170,OMIM:112410,Orphanet:ORPHA1276	Brachydactyly with hypertension	germline	12	20616299	GTTTCTTCCACTTGGACCACCACCACCTCGGCCACAGGTCTACCCACCTTGGAGCCTGCAC
397516685	53386	NM_001613.2(ACTA2):c.635G>A (p.Arg212Gln)	ACTA2	Nov 06, 2017	MedGen:C2673186,OMIM:611788;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection;not provided	germline	10	88939680	TCTGGTTGACAGCTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGC
121918690	27581	NM_001252634.1(THRB):c.949G>A (p.Ala317Thr)	THRB	Jul 23, 2013	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127694	GGCTGCTGCATGGAGATCATGTCCCTTCGCGCTGCTGTGCGCTATGACCCAGAAAGTGAGA
120074190	18179	NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp)	KCNQ1	Nov 22, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN034131,OMIM:220400;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1;not provided	germline	11	2778009	AGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGT
1060503282	394464	NM_000038.5(APC):c.2097G>A (p.Trp699Ter)	APC	Nov 15, 2016	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112837691	AAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAAC
606231340	136657	NM_000257.3(MYH7):c.2686G>A (p.Asp896Asn)	MYH7	-	MedGen:C0264789,SNOMED CT:35728003	Familial cardiomyopathy	not provided	14	23424143	CTCCCCTCTGTTCCTCACCTTCAGGAACAAGACAACCTGGCAGATGCTGAGGAGCGCTGTG
200411226	174776	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3	Jul 10, 2017	MedGen:CN230736;MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN239295;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;MYBPC3-Related Disorders;Primary familial hypertrophic cardiomyopathy;not provided	germline;unknown	11	47342718	CTAGGCTGAAGGACGGGGTGGAGCTGACCCGGGAGGAGACCTTCAAATACCGGTTCAAGAA
-1	444125	NM_003718.4(CDK13):c.2141G>A (p.Gly714Asp)	CDK13	Aug 25, 2017	MedGen:CN517202	not provided	germline	7	39999459	AATTTGATATCATCGGAATTATTGGAGAAGGTACTTACGGACAAGTTTACAAAGCCAGGGA
121907930	18486	NM_000135.3(FANCA):c.513G>A (p.Trp171Ter)	FANCA	Jan 01, 2003	MedGen:C3469521,OMIM:227650	Fanconi anemia, complementation group A	germline	16	89810716	CTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGTAAATTTGAGATTGCAAATC
137853101	23057	NM_005327.4(HADH):c.118G>A (p.Ala40Thr)	HADH	Feb 04, 2013	MedGen:C1291230,OMIM:231530,SNOMED CT:124122005	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	germline	4	107990050	GTGACGGTCATCGGCGGCGGGCTGATGGGCGCCGGCATTGCCCAGGTGAGCGGCCCTCCCT
752596663	434368	NM_172369.4(C1QC):c.490G>A (p.Gly164Ser)	C1QC	Oct 18, 2017	MedGen:C3150902,OMIM:613652	C1q deficiency	germline	1	22647535	AGCACTGGCAAGTTCACCTGCAAAGTCCCCGGCCTCTACTACTTTGTCTACCACGCGTCGC
-1	470914	NM_000044.4(AR):c.2296G>A (p.Ala766Thr)	AR	May 30, 2017	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67717600	ACCAATGTCAACTCCAGGATGCTCTACTTCGCCCCTGATCTGGTTTTCAATGAGTAAGTGC
-1	464504	NM_003239.4(TGFB3):c.989G>A (p.Trp330Ter)	TGFB3	Jun 19, 2017	MedGen:C3553762,OMIM:614816	Loeys-Dietz syndrome 4	germline	14	75961014	TCTACATTGACTTCCGACAGGATCTGGGCTGGAAGTGGGTCCATGAACCTAAGGGCTACTA
879254907	246162	NM_000527.4(LDLR):c.1449G>A (p.Trp483Ter)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113625	CCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCT
863224004	210669	NM_000143.3(FH):c.1097G>A (p.Ser366Asn)	FH	Jul 31, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002;MedGen:CN517202	Fumarase deficiency;not provided	germline	1	241504053	TGATCTTGCCTGAAAATGAACCAGGAAGCAGTATCATGCCAGGTAATCACATAGCTAGTAA
886041189	264135	NM_000094.3(COL7A1):c.6769G>A (p.Gly2257Arg)	COL7A1	Mar 01, 2016	MedGen:CN517202	not provided	germline	3	48572924	CTTCCCTCTCAGGGGGAGACAGGGAAGCCGGGAGCCCCAGGTCGAGATGGTGCCAGTGGAA
74339576	23722	NM_000525.3(KCNJ11):c.902G>A (p.Arg301His)	KCNJ11	Feb 01, 2005	MedGen:C0027773,OMIM:601820,SNOMED CT:42681006	Islet cell hyperplasia	germline	11	17387190	TGGAAACCACGGGCATCACCACCCAGGCCCGCACCTCCTACCTGGCCGATGAGATCCTGTG
104894066	16215	NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter)	CYP11B1	Dec 01, 1993	MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007	Deficiency of steroid 11-beta-monooxygenase	germline	8	142879080	TGCATCCCCACAGGATGAGCCTGGAGCCCTGGGTGGCCTACAGACAACATCGTGGGCACAA
61754393	18821	NM_000372.4(TYR):c.1265G>A (p.Arg422Gln)	TYR	Jul 01, 1991	MedGen:C1847132,Orphanet:ORPHA352737;MedGen:CN517202	Oculocutaneous albinism type 1, temperature sensitive;not provided	germline	11	89284853	CAGAAGCCAATGCACCCATTGGACATAACCGGGAATCCTACATGGTTCCTTTTATACCACT
397518041	57773	NM_206933.2(USH2A):c.8981G>A (p.Trp2994Ter)	USH2A	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C1848634,OMIM:276901	Retinitis pigmentosa;Usher syndrome, type 2A	germline;unknown	1	215845898	TTGGCCACCTAAAGCCAAACACAGAGTATTGGATCTTTATCTCTGTCTTCAATGGAGTCCA
397507518	48977	NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys)	PTPN11	Mar 14, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1860991,OMIM:609942;MedGen:CN517202	Noonan syndrome;Noonan syndrome 3;not provided	germline	12	112450508	TATCCTCTGAACTGTGCAGATCCTACCTCTGAAAGGTCAGTAACATTTTAGTGACCACAAA
104894395	186860	NM_004004.5(GJB2):c.230G>A (p.Trp77Ter)	GJB2	Feb 25, 2016	MedGen:C2673759,OMIM:220290;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness	germline;unknown	13	20189352	ACTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGTCCACGCC
794728533	197493	NM_000218.2(KCNQ1):c.1660G>A (p.Val554Met)	KCNQ1	Apr 16, 2013	MedGen:CN517202	not provided	germline	11	2776029	CAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGG
121913283	173901	NM_006218.3(PIK3CA):c.3129G>A (p.Met1043Ile)	PIK3CA	May 31, 2016	MedGen:C0278701;MeSH:D003528,MedGen:C0010606;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MedGen:CN233161;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680	Adenocarcinoma of stomach;Adenoid cystic carcinoma;Colorectal Neoplasms;Glioblastoma;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the thyroid gland;Non-small cell lung cancer;PIK3CA related overgrowth spectrum;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder	somatic	3	179234286	AGAGGCTTTGGAGTATTTCATGAAACAAATGAATGATGCACATCATGGTGGCTGGACAACA
587776837	31415	NM_021870.2(FGG):c.78+5G>A	FGG	Oct 01, 2000	MedGen:C2584774,OMIM:202400,Orphanet:ORPHA98880	Afibrinogenemia, congenital	germline	4	154612527	TATTTCTCTCTTCAACATGTGTAGCAGTAAGTGTGCTCTTCACAAAACGTTGTTTAAAATG
193929392	34296	NM_005333.4(HCCS):c.475G>A (p.Glu159Lys)	HCCS	Aug 18, 2011	MedGen:C0796070,OMIM:309801	Linear skin defects with multiple congenital anomalies 1	not provided	X	11118574	AATATCATTAGAATTCACAATCAGAATAACGAGCAGGCTTGGAAGGAGATTTTGAAGTGGG
36001797	28172	NM_000536.3(RAG2):c.283G>A (p.Gly95Arg)	RAG2	Aug 01, 2000	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006	Histiocytic medullary reticulosis	germline	11	36593886	GAGTCTGAAAAGCATCAATACATCATCCATGGAGGGAAAACACCAAACAATGAGGTTTCAG
876658672	235944	NM_007294.3(BRCA1):c.5135G>A (p.Trp1712Ter)	BRCA1	Apr 27, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43063891	AATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGTAAGTATAATAC
-1	482230	NM_000381.3(MID1):c.756+5G>A	MID1	Dec 08, 2017	MedGen:CN517202	not provided	germline	X	10523087	TCATCCAAACCTGTCAACATGTTGAAGTGAGTATCTCTGTATTTCTGTATGGTATGTTTCA
28937593	21079	NM_004273.4(CHST3):c.911G>A (p.Arg304Gln)	CHST3	Jul 06, 2004	MedGen:C1840471,OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	germline	10	72007942	TGCGCGTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTGGCCTT
62516101	15658	NM_000277.2(PAH):c.1162G>A (p.Val388Met)	PAH	Jun 14, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102843683	ACTGTCACGGAGTTCCAGCCCCTCTATTACGTGGCAGAGAGTTTTAATGATGCCAAGGAGA
759877008	402204	NM_000135.2(FANCA):c.709+5G>A	FANCA	Jul 11, 2016	MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002	Fanconi anemia	germline	16	89805275	TGACGTCGCCAGGGCCATGCTTTCTGGTGCGTTCATGACAAGATGCGGGTTCTTGGGTAAA
-1	29477	NM_172057.2(KCNH2):c.1572+1G>A	KCNH2	Mar 23, 1999	MedGen:C3150944	Long QT syndrome 1/2, digenic	germline	7	150948855	AGCCTGGAGATCACCTTCAACCTGCGAGATGTGAGTTGGCTGCCCTGAGCTGGACCCCATC
1064793563	408743	NM_001131025.1(PEX5):c.552-1G>A	PEX5	May 07, 2015	MedGen:CN517202	not provided	germline	12	7201750	AATGTGTAAAATTAGTTCTTACCCGTTCCAGGTATGATGAATATCATCCTGAGGAGGATCT
202247818	47486	NM_000532.4(PCCB):c.335G>A (p.Gly112Asp)	PCCB	May 17, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	not provided	3	136256586	TTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTT
104894153	16841	NM_000102.3(CYP17A1):c.287G>A (p.Arg96Gln)	CYP17A1	Jun 01, 2006	MedGen:CN042980	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102837075	TTATTAAGAAGGGCAAGGACTTCTCTGGGCGGCCTCAAATGGTAAGTGGTGCCCATCTCCT
267606708	28849	NM_005188.3(CBL):c.1259G>A (p.Arg420Gln)	CBL	Dec 09, 2016	MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN517202	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;not provided	germline	11	119278541	AATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGT
587777534	150120	NM_001814.5(CTSC):c.815G>A (p.Arg272His)	CTSC	Mar 01, 2004	MedGen:C0031106,OMIM:170650	Periodontitis, aggressive, 1	germline	11	88296207	CTTCTATGGGTATGCTAGAAGCGAGAATCCGTATACTAACCAACAATTCTCAGACCCCAAT
113993979	34180	NM_002863.4(PYGL):c.1366G>A (p.Val456Met)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	not provided	14	50915373	TGCATTGTCGGTTCCCATGCTGTGAATGGCGTGGCTAAAATCCACTCAGACATCGTGAAGA
777828000	204411	NM_000050.4(ASS1):c.571G>A (p.Glu191Lys)	ASS1	May 25, 2014	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	inherited	9	130471489	CCCTGTCTTTCCTTTCCCCTCCGCAGCTACGAGGCTGGAATCCTGGAGAACCCCAAGGTAA
769405586	426948	NM_001171.5(ABCC6):c.2279G>A (p.Arg760Gln)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178934	GCATGAATCTCTCCGGAGGCCAGAAGCAGCGGCTGAGCCTGGCCCGGGCTGTATACAGAAA
104886118	35757	NM_000495.4(COL4A5):c.1481G>A (p.Gly494Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108595566	GCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCC
1060502576	392288	NM_001204.6(BMPR2):c.1398G>A (p.Trp466Ter)	BMPR2	Oct 16, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202542432	AAAACAGAGACCCAAGTTCCCAGAAGCCTGGAAAGAAAATAGCCTGGTAAGAAAAAACTAA
72556299	103146	NM_000531.5(OTC):c.578G>A (p.Trp193Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403655	ATAGCTCTCTGAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACTC
189261858	227362	NM_000369.2(TSHR):c.1349G>A (p.Arg450His)	TSHR	Mar 18, 2016	MedGen:C3493776,OMIM:275200;MedGen:CN517202	Hypothyroidism, congenital, nongoitrous, 1;not provided	germline	14	81143407	TCACCAGCCACTACAAACTGAACGTCCCCCGCTTTCTCATGTGCAACCTGGCCTTTGCGGA
398124476	102273	NM_138694.3(PKHD1):c.1602+1G>A	PKHD1	Nov 01, 2012	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52056889	CCAATCCCTGCAAATGCCACAGCCCATCTGGTGGGAGACTTCTTCAAAAAATGAGGGAGGG
-1	440410	NM_000530.7(MPZ):c.67+1G>A	MPZ	Dec 28, 2016	MedGen:CN517202	not provided	germline	1	161309838	TCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTT
397508200	67910	NM_000492.3(CFTR):c.1393-1G>A	CFTR	Apr 08, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202;MedGen:CN169374	Cystic fibrosis;not provided;not specified	germline	7	117559463	ATGACCTAATAATGATGGGTTTTATTTCCAGACTTCACTTCTAATGGTGATTATGGGAGAA
866001342	224768	NM_001257988.1(TYMP):c.856G>A (p.Glu286Lys)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526648	CCCCTGGGTCGCTGCGTGGGCCACGCCCTGGAGGTGGAGGAGGCGCTGCTCTGCATGGACG
886041857	264594	NM_001271.3(CHD2):c.1481G>A (p.Trp494Ter)	CHD2	Jul 08, 2016	MedGen:CN517202	not provided	germline	15	92949055	TTCGAGATTATCAGCTAGAAGGTCTAAACTGGCTAGCTCATTCCTGGTGCAAGTAGGTAGA
876658409	235486	NM_144997.5(FLCN):c.557G>A (p.Trp186Ter)	FLCN	Apr 17, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas;not provided	germline	17	17223983	TGATGGACCGGATCTACCTCATCAACTCCTGGCCCTTCCTGCTGGGGAAGGTCCGGGGAAT
-1	464927	NM_000138.4(FBN1):c.4043G>A (p.Cys1348Tyr)	FBN1	Aug 16, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48474572	TATGTACCAATACAGCAGGAAGCTTCAAATGTAGCTGCAGTCCCGGGTGGATTGGAGATGG
72547564	16678	NM_000382.2(ALDH3A2):c.641G>A (p.Cys214Tyr)	ALDH3A2	Jan 01, 1996	MedGen:C0037231,OMIM:270200,Orphanet:ORPHA816,SNOMED CT:111303009	Sjögren-Larsson syndrome	germline	17	19656535	TGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGTGACCTGGACAT
281874664	35738	NM_000495.4(COL4A5):c.1294G>A (p.Gly432Arg)	COL4A5	Aug 22, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108591186	CCTGGACTTGACGGACAGCCTGGGGCTCCTGGGCTTCCAGGGCCTCCTGGCCCTGCTGGCC
-1	423241	NM_000051.3(ATM):c.6312G>A (p.Trp2104Ter)	ATM	-	Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Neoplasm of the breast	germline	11	108317486	ACTAGAAGAACTTCATTACCAAGCAGCATGGAGGAATATGCAGTGGGACCATTGCACTTCC
147611168	177296	NM_000159.3(GCDH):c.1240G>A (p.Glu414Lys)	GCDH	Oct 13, 2016	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline	19	12897860	GCCATGAACCTGGAGGCCGTGAACACCTACGAAGGTAGGAGCTGGACCTCAGAGGGCTCAC
397514481	40316	NM_000933.3(PLCB4):c.1862G>A (p.Arg621His)	PLCB4	Mar 01, 2013	Gene:100381211,MedGen:C1865295,OMIM:602483;MedGen:C3553404,OMIM:614669	Auriculocondylar syndrome 1;Auriculocondylar syndrome 2	germline;inherited	20	9409080	GTTACAGTTATAACAAACGGCAAATGAGTCGCATTTACCCCAAGGGAGGCCGAGTCGATTC
1057517960	360601	NM_004006.2(DMD):c.1602+1G>A	DMD	Nov 18, 2016	MedGen:CN517202	not provided	germline	X	32595756	GCAACTGCTGCTTTGGAAGAACAACTTAAGGTCAGATTATTTTGCTTAGTAAACTAAATAT
-1	442405	NM_000444.5(PHEX):c.187+1G>A	PHEX	Oct 25, 2016	MedGen:CN517202	not provided	germline	X	22038538	ACTGCCTGAAGCCAGAATGCATCGAAGCGGGTAAGTCACAGTTTTCCATCCTGTGTCAAGT
121913617	29177	NM_002470.3(MYH3):c.2015G>A (p.Arg672His)	MYH3	May 01, 2006	MedGen:C0265224,OMIM:193700,SNOMED CT:52616002	Freeman-Sheldon syndrome	germline	17	10641317	ATTTAAGAACTACTCACCCTCATTTTGTGCGTTGTATAATTCCCAATGAAACCAAAACTCC
397514581	48359	NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln)	KCNQ2	Dec 06, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;MedGen:CN517202	Early infantile epileptic encephalopathy 7;not provided	germline	20	63444711	TGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTGCTGGGCTC
876657717	228932	NM_181457.3(PAX3):c.668G>A (p.Arg223Gln)	PAX3	Jun 23, 2015	MedGen:C3266898,Orphanet:ORPHA3440,SNOMED CT:47434006	Waardenburg syndrome	germline	2	222232202	TACCACTAAAGAGGAAACAGCGCAGAAGCCGAACCACCTTCACAGCAGAACAGCTGGAGGA
755389753	246219	NM_000527.4(LDLR):c.1586+1G>A	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113763	AAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCACGACGCTGAGGGCTGCAGAG
121908841	21573	NM_003722.4(TP63):c.1028G>A (p.Arg343Gln)	TP63	May 02, 2016	MedGen:C1858562,OMIM:604292;MedGen:CN517202	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;not provided	germline	3	189868615	AAGTCCTGGGCCGACGCTGCTTTGAGGCCCGGATCTGTGCTTGCCCAGGAAGAGACAGGAA
281865012	46983	NM_024312.4(GNPTAB):c.3249+1G>A	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	not provided	12	101760029	ACTCAGGAATCCTACTATGATCCCAACCTGGTAAGTGGAATGGGTTACTTTTATGTACAAC
386834227	70799	NM_000130.4(F5):c.5392G>A (p.Glu1798Lys)	F5	-	MedGen:CN517202	not provided	inherited	1	169529635	TCCCGAAGTTCTTGGAGACTCACATCCTCAGAAATGAAAAAATCCCATGAGTTTCACGGTA
121918274	17216	NM_022370.3(ROBO3):c.955G>A (p.Glu319Lys)	ROBO3	Jun 04, 2004	MedGen:C1846496,OMIM:607313,Orphanet:ORPHA2744	Gaze palsy, familial horizontal, with progressive scoliosis	germline	11	124870650	CACAGCCTTTGGATTGGGCATGTGAGTGCCGAAGATGAGGGAACGTACACCTGTGTGGCGG
121912835	32476	NM_000094.3(COL7A1):c.4556G>A (p.Gly1519Asp)	COL7A1	Dec 01, 1998	MedGen:C1851573,OMIM:131705,Orphanet:ORPHA79411	Transient bullous dermolysis of the newborn	germline	3	48582616	CAGGGGTTGCTGGACGTCCTGGAGCCAAGGGTCCTGAAGTGAGTCTGTGACTGTGGTGGGA
121909361	23675	NM_000163.4(GHR):c.184G>A (p.Glu62Lys)	GHR	Oct 26, 1995	MedGen:C1858656,OMIM:604271,OMIM:615925	Short stature, idiopathic, autosomal	germline	5	42688937	AAATTCACCAAGTGCCGTTCACCTGAGCGAGAGACTTTTTCATGCCACTGGACAGATGAGG
886042417	266767	NM_015295.2(SMCHD1):c.3801+1G>A	SMCHD1	Sep 10, 2015	Gene:2490,MedGen:C1834671,OMIM:158901	Facioscapulohumeral muscular dystrophy 2	germline	18	2743929	CTCCTTATAGACTGGCCAGAACTAAAGGAGGTAAGTCACTTCATGTCTTCACTGAAAGAAT
200788251	358466	NM_000018.3(ACADVL):c.865G>A (p.Gly289Arg)	ACADVL	Apr 27, 2017	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202	Very long chain acyl-CoA dehydrogenase deficiency;not provided	germline;unknown	17	7222289	ATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTT
121913613	29198	NM_005373.2(MPL):c.1473G>A (p.Trp491Ter)	MPL	Aug 01, 2000	MedGen:C1327915,OMIM:604498,Orphanet:ORPHA3319	Congenital amegakaryocytic thrombocytopenia	germline	1	43349267	GAAGTCTGACCCTTTTTGTCTCCTAGCCTGGATCTCCTTGGTGACCGCTCTGCATCTAGTG
727503309	176599	NM_016239.3(MYO15A):c.5531+1G>A	MYO15A	Oct 17, 2014	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	17	18141144	GCGCCTGCCTTTCCAGGGGTTCATCGACAGGTATCTTGGTTACGGTAGTTCCTGAGCTCTA
769193201	214394	NM_001135822.1(FDPS):c.486+1G>A	FDPS	Jul 23, 2015	MedGen:C4225262,OMIM:616631	Porokeratosis 9, multiple types	germline	1	155318292	TACCTGAACCTGATCGAGCTCTTCCTGCAGGTGTATTGCAGACAGGGCCCGATGCCCAGAG
121908641	21368	NM_000050.4(ASS1):c.1168G>A (p.Gly390Arg)	ASS1	Oct 20, 2017	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187;MedGen:CN517202	Citrullinemia type I;not provided	germline;unknown	9	130499545	CAGGGTGATTATGAGCCAACTGATGCCACCGGGTTCATCAACATCAATTCCCTCAGGTGAG
80358258	33990	NM_000271.4(NPC1):c.3160G>A (p.Ala1054Thr)	NPC1	Jul 22, 2008	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	not provided	18	23536758	GTGCTGCAGACCTCTGCTGACTTTATTGACGCTCTGAAGAAAGCCCGACTTATAGCCAGTA
1057517650	359019	NM_006412.3(AGPAT2):c.182+1G>A	AGPAT2	Dec 08, 2016	MedGen:C1720862,OMIM:608594	Congenital generalized lipodystrophy type 1	germline	9	136687175	CCACGGCGGCCGGACGGTGGAGAACATGAGGCAAGGCCGGGGGCCGCCGGGAGGGGCCGGG
587777096	102947	NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser)	WDR34	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:C3810200,OMIM:615633	Jeune thoracic dystrophy;Short-rib thoracic dysplasia 11 with or without polydactyly	germline;inherited	9	128634726	CCAGCACAGTTTACCTTCTCCCCCCACGGCGGTCCCATCTACTCTGTGAGCTGTTCCCCCT
-1	440675	NM_000091.4(COL4A3):c.637G>A (p.Gly213Arg)	COL4A3	Aug 19, 2016	MedGen:CN517202	not provided	germline	2	227251363	TAGGGCTTTCCAGGAGCCATGGGACCTAGAGGACCTAAGGTAGACTACAGTTCATATGATG
587779720	107240	NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007931	AGGGTGCAATCGGCAGTCCAGGACCTGCAGGCCCCAGAGTAAGTAGCACAGAAAGATATTA
111033565	26915	NM_002769.4(PRSS1):c.365G>A (p.Arg122His)	PRSS1	Jul 11, 2017	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN517202;MedGen:CN169374	Hereditary pancreatitis;not provided;not specified	germline	7	142751938	AGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCC
151344525	33505	NM_001042425.1(TFAP2A):c.698G>A (p.Arg233Gln)	TFAP2A	Apr 01, 2010	MedGen:C0376524,OMIM:113620	Branchiooculofacial syndrome	germline	6	10404562	ACAAGGTCACGGTGGCGGAAGTGCAGCGGCGGCTCTCACCACCCGAGTGTCTCAACGCGTC
763797356	371313	NM_033056.3(PCDH15):c.1997+1G>A	PCDH15	May 14, 2015	MedGen:CN517202	not provided	germline	10	54089983	TCCTCAGAGAGTTTTTAATCTTTCAGAAACGTAAGTTAAAAATGATTTCCTACTTTAAAAA
104893732	20976	NM_006580.3(CLDN16):c.350G>A (p.Trp117Ter)	CLDN16	Jun 01, 2000	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190402362	TCTAGGTGAGCACAAAATGCCGAGGCCTCTGGTGGGAATGCGTCACAAATGCTTTTGATGG
121912614	16455	NM_001041.3(SI):c.3686G>A (p.Cys1229Tyr)	SI	Jan 01, 2006	MedGen:C1283620,OMIM:222900,Orphanet:ORPHA35122,SNOMED CT:360854006,SNOMED CT:78373000	Sucrase-isomaltase deficiency	germline	3	165017621	CAGCTTATTGGGCTTTGGGATTCCAATTATGTCGTTATGGATATGCAAATACTTCAGAGGT
1010078101	374885	NM_000382.2(ALDH3A2):c.1202G>A (p.Gly401Glu)	ALDH3A2	Apr 15, 2015	MedGen:CN517202	not provided	germline	17	19665042	ACTTCACGCTCAACTCTTTCCCATTTGGAGGAGTGGGTGAGTCTTATTTTCTCCTGCTTGT
121912914	32240	NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp)	COL3A1	Dec 21, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006400	CTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAA
-1	434204	NM_000527.4(LDLR):c.263G>A (p.Arg88Lys)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102736	GTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGG
-1	428727	NM_000162.3(GCK):c.775G>A (p.Ala259Thr)	GCK	Jan 11, 2017	MedGen:C1841962,OMIM:125851	Maturity-onset diabetes of the young,  type 2	germline	7	44147738	GGCCGCATGTGCGTCAATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGACGAGT
113993981	27035	NM_002863.4(PYGL):c.1620+1G>A	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	germline	14	50913028	TTCCTCCGGGAACTCGCCAAGGTGAAGCAGGTGAGCCTTCCAGGTGTGGGTCCCCTCCTGG
483352809	65656	NM_006087.3(TUBB4A):c.745G>A (p.Asp249Asn)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441;MedGen:CN517202	Leukodystrophy, hypomyelinating, 6;not provided	germline;unknown	19	6495754	TGCCTGCGCTTCCCGGGCCAGCTGAACGCCGACCTGCGCAAGCTGGCCGTCAACATGGTTC
1060499708	384502	NM_003647.2(DGKE):c.1376G>A (p.Trp459Ter)	DGKE	-	MedGen:C3554330,OMIM:615008	Nephrotic syndrome, type 7	germline	17	56861882	TCGGATACTGGGGCGGTGGCTGCAGACTATGGGAAGGGATGGGGGACGAGACTTACCCTCT
386834008	20285	NM_015294.4(TRIM37):c.860G>A (p.Ser287Asn)	TRIM37	Dec 01, 2006	MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:81604003	Mulibrey nanism syndrome	germline	17	59064355	ATTCAGCTACTTTTGTTTTAGAGAATTTCAGGTAAGAGTTTTTGACAATTCTGGTTTTTTT
-1	471869	NM_004006.2(DMD):c.831+1G>A	DMD	Jul 11, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32699111	TTACATCATCAAATGCACTATTCTCAACAGGTAAAGTGTGTAAAGGACAGCTACTATTCAA
794726853	187759	NM_001165963.1(SCN1A):c.3858G>A (p.Trp1286Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166012130	TCAAACATATTTCACCAATGCCTGGTGTTGGCTGGACTTCTTAATTGTTGATGTAGGTATC
121912529	29437	NM_000233.3(LHCGR):c.1060G>A (p.Glu354Lys)	LHCGR	Jun 01, 1998	MedGen:C0266432,OMIM:238320,SNOMED CT:56212008;MedGen:C2673498	Leydig cell agenesis;Luteinizing hormone resistance, female	germline	2	48688737	GCTCCTGAACCAGATGCTTTTAATCCCTGTGAAGATATTATGGGCTATGACTTCCTTAGGG
104894386	17606	NM_006493.2(CLN5):c.335G>A (p.Arg112His)	CLN5	Feb 22, 2005	MedGen:C1850442,OMIM:256731,Orphanet:ORPHA228360	Ceroid lipofuscinosis neuronal 5	germline	13	76995077	TCTTTTTCTTTATTAGGCGCTTTGACTTCCGTCCAAAACCTGATCCTTATTGTCAAGCTAA
-1	452457	NM_198056.2(SCN5A):c.1121G>A (p.Trp374Ter)	SCN5A	Mar 09, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005	Brugada syndrome	germline	3	38606688	CACTCTTCCGCCTGATGACGCAGGACTGCTGGGAGCGCCTCTATCAGCAGGTGTGTGTGTG
886043251	270158	NM_004006.2(DMD):c.1150-1G>A	DMD	Jan 16, 2018	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Duchenne muscular dystrophy;not provided	germline	X	32644314	AATTACAATTGTTAACTTCCTTCTTTGTCAGGGGTACATGATGGATTTGACAGCCCATCAG
761283105	211189	NM_032380.4(GFM2):c.569G>A (p.Arg190Gln)	GFM2	Sep 15, 2017	MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN517202	Mitochondrial diseases;not provided	germline	5	74747731	GGAGGCAAGCTGATAAACACAATATACCTCGAATCTGTTTTTTAAACAAGATGGACAAAAC
1057520644	379505	NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys)	IL2RG	Apr 15, 2015	MedGen:CN517202	not provided	germline	X	71110964	CCAGAGGTTCAGTGTTTTGTGTTCAATGTCGAGTACATGAATTGCACTTGGAACAGCAGCT
876658153	407985	NM_000314.6(PTEN):c.209+1G>A	PTEN	Oct 04, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87925558	GCATAAAAACCATTACAAGATATACAATCTGTAAGTATGTTTTCTTATTTGTATGCTTGCA
5030808	17276	NM_000551.3(VHL):c.277G>A (p.Gly93Ser)	VHL	Feb 26, 2016	Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Pheochromocytoma;Von Hippel-Lindau syndrome	germline	3	10142124	GTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCAACGCTGCCGC
373885654	172174	NM_000535.6(PMS2):c.1144+1G>A	PMS2	Mar 20, 2017	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	7	5989799	TCAGTCAGCAGCCACTGCTGGATGTTGAAGGTAAGAAAAATACAGTGTACAAACAGCTTCT
397507175	46836	NM_000060.4(BTD):c.734G>A (p.Cys245Tyr)	BTD	Mar 17, 2015	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	germline	3	15644590	CCTTTGCTGGCAGGTTTGGCATCTTCACATGCTTTGATATATTGTTCTTTGACCCTGCCAT
80338958	20939	NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	SCN4A	Jan 28, 2016	MedGen:CN074266,OMIM:170500;MedGen:C1858891;MedGen:CN517202	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita/hyperkalemic periodic paralysis;not provided	germline	17	63945614	CCCCAGGTGGTGGTGAACGCCCTCCTAGGCGCCATCCCCTCCATCATGAATGTGCTGCTTG
281874763	35657	NM_000495.4(COL4A5):c.689G>A (p.Gly230Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108578292	ACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCC
775565634	362055	NM_005215.3(DCC):c.2260G>A (p.Val754Met)	DCC	Jan 01, 2016	MedGen:C0175754,OMIM:217990,Orphanet:ORPHA200	Corpus callosum agenesis	germline	18	53339808	AGTTGGACTCCTCCCTTGAACCCAAACATCGTGGTGCGAGGTTATATTATCGGTTATGGCG
368435864	202925	NM_002693.2(POLG):c.3287G>A (p.Arg1096His)	POLG	May 16, 2017	MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED CT:20415001;MedGen:CN517202	Progressive sclerosing poliodystrophy;not provided	germline	15	89318736	CCACCTTCCCTTCCCAGTTTATGACCAGCCGTGTGAATTGGGTGGTACAGAGCTCTGCTGT
387906499	26570	NM_003688.3(CASK):c.915G>A (p.Lys305=)	CASK	Sep 01, 2008	MedGen:C2677903,OMIM:300749,Orphanet:ORPHA163937	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	germline	X	41636578	GAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAA
869025217	217242	NM_004423.3(DVL3):c.1715-1G>A	DVL3	Apr 04, 2016	MedGen:C0265205,OMIM:180700,SNOMED CT:76520005;MedGen:C4225164,OMIM:616894	Robinow syndrome;Robinow syndrome, autosomal dominant 3	de novo;germline	3	184170318	GCCCCACCCCGGCCCTGTTTGCCTCCTACAGGCAGTCGGAGCAGTGGCTCCAACCGTAGCG
879254546	245591	NM_000527.4(LDLR):c.495G>A (p.Trp165Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105401	CAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGAT
797045351	209246	NM_000052.6(ATP7A):c.2187G>A (p.Trp729Ter)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78012893	CATTCCTATATTGCAGTTTTTCGGAGGCTGGTACTTCTACATTCAGGCTTATAAAGCACTG
864309514	215041	NM_006516.2(SLC2A1):c.857G>A (p.Gly286Asp)	SLC2A1	Nov 10, 2011	MedGen:C1837206,OMIM:608885,Orphanet:ORPHA168577	Stomatin-deficient cryohydrocytosis with neurologic defects	germline	1	42929603	TGGTGCTGCAGCTGTCCCAGCAGCTGTCTGGCATCAACGCTGTGAGTGCCCCCACCCACCC
387907285	45788	NM_004984.3(KIF5A):c.751G>A (p.Glu251Lys)	KIF5A	Jun 27, 2017	MedGen:C0037772;MedGen:C1858712,OMIM:604187,Orphanet:ORPHA100991	Spastic paraplegia;Spastic paraplegia 10	germline	12	57568999	AAGACTGGAGCAGAGGGAGCCGTGCTGGACGAGGCAAAGAATATCAACAAGTCACTGTCAG
104893619	24519	NM_001298.2(CNGA3):c.1585G>A (p.Val529Met)	CNGA3	May 04, 2016	MedGen:C1857618,OMIM:216900;MedGen:CN517202	Achromatopsia 2;not provided	germline	2	98396755	ATGTACATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCAGTTCG
1057518200	359277	NM_001271208.1(NEB):c.17262G>A (p.Trp5754Ter)	NEB	Nov 08, 2016	MedGen:CN517202	not provided	germline	2	151570249	ACGAGAGTACCGGCTGGACTGGGCCAAATGGAAGGCCAAGATCCAGAGCCCTGTGGACATG
1085307346	414300	NM_001204.6(BMPR2):c.1397G>A (p.W466*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202542431	AAAAACAGAGACCCAAGTTCCCAGAAGCCTGGAAAGAAAATAGCCTGGTAAGAAAAAACTA
80338714	26568	NM_000047.2(ARSE):c.1743G>A (p.Trp581Ter)	ARSE	May 22, 2017	MedGen:C1844853,OMIM:302950,Orphanet:ORPHA79345;MedGen:CN517202	Chondrodysplasia punctata 1, X-linked recessive;not provided	germline	X	2934859	GCCCTGCTGTGGCCCGTTCCCCCTCTGCTGGTGCCTTAGGGAAGATGACCCACAATAAATG
869312952	226934	NM_052867.3(NALCN):c.4197+1G>A	NALCN	Apr 17, 2014	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	13	101073583	GACTGGAACAAGATTATGCATGACTGTATGGTAAATATCTCTCATCATGAACAAGGCTTAG
121912744	32802	NM_000342.3(SLC4A1):c.1766G>A (p.Arg589His)	SLC4A1	May 26, 1998	MedGen:C0259810,OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	germline	17	44255707	CCGGTACCTTCTTCTTTGCCATGATGCTGCGCAAGTTCAAGAACAGCTCCTATTTCCCTGG
376459828	198012	NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr)	LDLR	May 01, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841	Familial hypercholesterolemia;Familial hypercholesterolemias	germline	19	11105496	TTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGG
207459999	24719	m.15242G>A	MT-CYB	Dec 01, 2000	MedGen:C0162666,SNOMED CT:447292006	Mitochondrial encephalomyopathy	germline	MT	15242	ATTGGGACAGACCTAGTTCAATGAATCTGAGGAGGCTACTCAGTAGACAGTCCCACCCTCA
1114167394	413989	NM_000088.3(COL1A1):c.2668-1G>A	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50189539	GAGTCTGACAGCCCCTCCTATCCTCATCCAGGGAAATGCTGGACCCCCTGGCCCTCCTGGT
886039551	259758	NM_003242.5(TGFBR2):c.1336G>A (p.Asp446Asn)	TGFBR2	Feb 09, 2016	MedGen:CN517202	not provided	germline	3	30674186	TTGGAGAATGTTGAGTCCTTCAAGCAGACCGATGTCTACTCCATGGCTCTGGTGCTCTGGG
768410753	248706	NM_133171.4(ELMO2):c.1065+1G>A	ELMO2	Sep 13, 2016	MedGen:C1847197,OMIM:606893,Orphanet:ORPHA140436	Vascular malformation, primary intraosseous	germline	20	46375235	ACAAAGGACTACAAAATGCTGGGATTTACCGTAAGTACCTCAGAGCATAGACGGTGGTAGG
67561842	39293	NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln)	ABCC6	Jan 01, 2010	MedGen:C3276161,OMIM:614473;MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Generalized arterial calcification of infancy 2;Pseudoxanthoma elasticum	germline	16	16178919	GAGGCCAGAAGCAGCGGCTGAGCCTGGCCCGGGCTGTATACAGAAAGGCAGCTGTGTACCT
747068278	49919	NM_022173.2(TIA1):c.1150G>A (p.Glu384Lys)	TIA1	Nov 01, 2017	MedGen:C0221054,OMIM:604454,SNOMED CT:58795000;MedGen:CN517202	Welander distal myopathy;not provided	germline	2	70212730	CAGCCTTCTGGGTATCGAGTGGCAGGGTATGAAACCCAGTGAATAAGGACTCCAGAATCTA
267606738	17608	NM_006493.2(CLN5):c.377G>A (p.Cys126Tyr)	CLN5	Feb 16, 2010	MedGen:C1850442,OMIM:256731,Orphanet:ORPHA228360	Ceroid lipofuscinosis neuronal 5	germline	13	76995119	ATCCTTATTGTCAAGCTAAGTATACTTTCTGTCCAACTGGCTCACCTATCCCAGTTATGGA
199422280	47896	NR_001566.1(TERC):n.322G>A	TERC	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	3	169764739	GCCACCGCGAAGAGTTGGGCTCTGTCAGCCGCGGGTCTCTCGGGGGCGAGGGCGAGGTTCA
1060499798	389249	NM_016239.3(MYO15A):c.4240G>A (p.Glu1414Lys)	MYO15A	Jun 04, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18132486	AAAAACGAGAGGAATTACCACATCTTCTACGAGTTGCTGGCCGGGTTGCCTGCCCAGCTCA
879255694	247711	NM_014191.3(SCN8A):c.641G>A (p.Gly214Asp)	SCN8A	Feb 19, 2016	MedGen:C3281191,OMIM:614558	Early infantile epileptic encephalopathy 13	germline	12	51688784	GCAGGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGCACTTTCAGGGT
121912741	32799	NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp)	SLC4A1	Dec 01, 1995	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44251588	CTGGGCTGAGAGTGTGCGGCTCCCCCACAGGCCTGTCCATCCTCATGGAGCCCATCCTGTC
886041153	265103	NM_003688.3(CASK):c.429+1G>A	CASK	May 17, 2016	MedGen:CN517202	not provided	germline	X	41739383	GATAATAACATAATTCACAGGGATGTGAAGGTAAGTCATTTGTTATCACTAACTTTAATGT
587778805	76795	NM_000193.3(SHH):c.664G>A (p.Asp222Asn)	SHH	Aug 29, 2013	MedGen:C1840529,OMIM:142945	Holoprosencephaly 3	not provided	7	155803625	ACCAAGCTGGTGAAGGACCTGAGCCCCGGGGACCGCGTGCTGGCGGCGGACGACCAGGGCC
398122933	49381	NM_001242.4(CD27):c.24G>A (p.Trp8Ter)	CD27	Mar 01, 2012	MedGen:C3554540,OMIM:615122	Lymphoproliferative syndrome 2	germline	12	6445119	AGGGACCATGGCACGGCCACATCCCTGGTGGCTGTGCGTTCTGGGGACCCTGGTGGGGCTC
794728858	196961	NM_198056.2(SCN5A):c.1891-1G>A	SCN5A	Sep 01, 2011	MedGen:CN517202	not provided	germline	3	38599051	AGGCTGACGCAAATCTCCTGATTGCACTCAGACCACGCCATCGGAGGAGCCAGGCGGGCCC
879253785	244088	NM_000038.5(APC):c.-30416G>A	APC	Jul 24, 2017	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112707528	GCATTGTAGTCTTCCCACCTCCCACAAGATGGCGGAGGGCAAGTAGCAAGGGGGCGGGGTG
587779714	107230	NM_000090.3(COL3A1):c.539G>A (p.Gly180Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988091	CATTCAAATTCACATTCCAGGGCCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCA
-1	468836	NM_001022.3(RPS19):c.185G>A (p.Arg62Gln)	RPS19	Feb 27, 2017	Human Phenotype Ontology:HP:0004810,MedGen:C1260899,Orphanet:ORPHA124,SNOMED CT:88854002	Diamond-Blackfan anemia	germline	19	41869043	CTCTCACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGCTGGGGT
1060499714	384487	NM_022124.5(CDH23):c.1987-1G>A	CDH23	-	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71687646	GCCTCCTGCAACCTGTCTGTGTTCCTTCCAGGATGAGAATGACAACCCTCCCACCTTCAGC
587779418	106848	NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999888	CAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAA
886037643	75133	NM_205850.2(SLC24A5):c.591G>A (p.Trp197Ter)	SLC24A5	Jul 01, 2013	MedGen:CN514775	Albinism, oculocutaneous, type VI	germline	15	48136683	AATTTAAAAACACAAATTTCTCTTTTGTAGGTATGAAGGGGCTTTACTGCTTTTGATATAT
118204117	16522	NM_000190.3(HMBS):c.849G>A (p.Trp283Ter)	HMBS	Apr 30, 2015	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006;MedGen:CN517202	Acute intermittent porphyria;not provided	germline	11	119092958	TCCCCAGCTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAG
-1	461455	NM_016725.2(FOLR1):c.257G>A (p.Trp86Ter)	FOLR1	Aug 29, 2016	MedGen:C2751584,OMIM:613068,Orphanet:ORPHA217382	Cerebral folate deficiency	germline	11	72195359	AGGATGTTTCCTACCTATATAGATTCAACTGGAACCACTGTGGAGAGATGGCACCTGCCTG
587779519	106964	NM_000090.3(COL3A1):c.2554-1G>A (p.Gly852Valfs*384)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003410	TTCTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGT
80356780	24110	NM_001876.3(CPT1A):c.2129G>A (p.Gly710Glu)	CPT1A	May 09, 2016	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline;unknown	11	68760238	AGAATAACCCAGAGTACGTGTCCAGCGGAGGGGGCTTTGGACCGGTGAGTGCGGCGGGGCT
867760244	444713	NM_000051.3(ATM):c.6327G>A (p.Trp2109Ter)	ATM	Apr 05, 2017	MedGen:CN517202	not provided	germline	11	108317501	TTACCAAGCAGCATGGAGGAATATGCAGTGGGACCATTGCACTTCCGTCAGGTAAGAAATT
1057519468	362115	NM_000520.5(HEXA):c.1454G>A (p.Trp485Ter)	HEXA	Mar 24, 2012	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72345518	CCAGAGCAGGGGCTGTTGCCGAAAGGCTGTGGAGCAACAAGTTGACATCTGACCTGACATT
180177323	200645	NM_012203.1(GRHPR):c.905G>A (p.Arg302His)	GRHPR	Nov 27, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline	9	37436700	CCCACATTGGCAGTGCCACCCACAGAACCCGCAACACCATGTCCTTGTTGGCAGCTAACAA
137853932	34284	NM_004750.4(CRLF1):c.397+1G>A	CRLF1	Mar 03, 2011	MedGen:C1848947,OMIM:272430	Cold-induced sweating syndrome 1	not provided	19	18599564	TCCTGGCTGGCTCCTGCCTCTATGTTGGCCGTAAGTTGGCACCCAGGACACCCCAGGGGTA
587779495	106937	NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu)	COL3A1	May 23, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008054	TACTTTCTTAGGGACCTGTTGGACCCAGTGGACCTCCTGGCAAAGATGGAACCAGTGGACA
387907169	40277	NM_025237.2(SOST):c.61G>A (p.Val21Met)	SOST	May 01, 2011	MedGen:C2675746,OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	germline	17	43758681	TGCCTGCTGGTACACACAGCCTTCCGTGTAGTGGAGGGCCAGGGGTGGCAGGCGTTCAAGA
1064796939	410859	NM_001396.4(DYRK1A):c.517-1G>A	DYRK1A	Mar 15, 2017	MedGen:CN517202	not provided	germline	21	37486466	GAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAA
80358810	46556	NM_000059.3(BRCA2):c.582G>A (p.Trp194Ter)	BRCA2	Oct 31, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32326564	AGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTT
137852403	25231	NM_000132.3(F8):c.902G>A (p.Arg301His)	F8	Aug 19, 2016	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008;MedGen:CN517202	Hereditary factor VIII deficiency disease;not provided	germline	X	154969438	AAGGTCACACATTTCTTGTGAGGAACCATCGCCAGGCGTCCTTGGAAATCTCGCCAATAAC
80358063	46152	NM_007294.3(BRCA1):c.4484+1G>A	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43076487	CAGTAAAAATAAAGAACCAGGAGTGGAAAGGTAAGAAACATCAATGTAAAGATGCTGTGGT
794729149	198207	NM_001134363.2(RBM20):c.1910G>A (p.Ser637Asn)	RBM20	Sep 25, 2013	MedGen:CN517202	not provided	germline	10	110812307	GATATGGCCCAGAAAGGCCGCGGTCTCGTAGTCCGGTGAGCCGGTCACTCTCCCCGAGGTC
886043249	270145	NM_018136.4(ASPM):c.8829G>A (p.Trp2943Ter)	ASPM	Jan 28, 2016	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197096156	GTTATATTTATGTATTTAATAGGCTATGTGGAGGAGATATAGAGCCAAGAAATATTTATGT
786204795	187137	NM_002240.4(KCNJ6):c.460G>A (p.Gly154Ser)	KCNJ6	Feb 05, 2015	MedGen:C3279800,OMIM:614098,Orphanet:ORPHA435628	Keppen-Lubinsky syndrome	germline	21	37714697	TTATTCTCAATAGAGACAGAAACCACCATTGGTTATGGCTACCGGGTCATCACAGATAAAT
121909767	21830	NM_001360.2(DHCR7):c.3G>A (p.Met1Ile)	DHCR7	Jul 07, 2014	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004	Smith-Lemli-Opitz syndrome	germline;unknown	11	71444950	AGCAAGGTTCTCTTTCTTGCAGGGCCCAATGGCTGCAAAATCGCAACCCAACATTCCCAAA
386833431	70589	NM_000027.3(AGA):c.677G>A (p.Gly226Asp)	AGA	Sep 30, 2016	Human Phenotype Ontology:HP:0012068,MedGen:C0268225,OMIM:208400;MedGen:CN517202	Aspartylglucosaminuria;not provided	germline	4	177436297	GACATATTGCTGCTGGTACATCTACAAATGGTATAAAATTCAAAATACATGGGTTAGTGTT
181087667	40103	NM_007055.3(POLR3A):c.2617-1G>A	POLR3A	Jun 08, 2016	MedGen:C1843200,OMIM:607694;MedGen:CN517202	Hypomyelinating leukodystrophy 7;not provided	germline	10	77993368	GCAGCTGAGCTTTTTCCTCCTTTTCCTTTAGCGAAGGCTTGTCAAATCTCTTGAAGATCTT
121964982	27014	NM_000481.3(AMT):c.139G>A (p.Gly47Arg)	AMT	Jun 01, 1994	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49422223	CCGCTCTATGACTTCCACCTGGCCCACGGCGGGAAAATGGTGGCGTTTGCGGGTTGGAGTC
959284348	360345	NM_001139.2(ALOX12B):c.530G>A (p.Trp177Ter)	ALOX12B	Nov 14, 2016	MedGen:CN517202	not provided	germline	17	8080778	CCCAGTTGCCCTGCGCTTCTCCCCACAGGTGGAATGGCTATATTCCGGGATTCCCAATTCT
724159829	17153	NM_003477.2(PDHX):c.641+1G>A	PDHX	Feb 01, 2002	MedGen:C1855553,OMIM:245349,Orphanet:ORPHA255182	Pyruvate dehydrogenase E3-binding protein deficiency	germline	11	34960519	CACTGGCCCTCGGGGGATATTCACTAAAGAGTATGTGTTTGCTTTTTGTAATAACCAGTTC
72558442	103216	NM_000531.5(OTC):c.787G>A (p.Asp263Asn)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408945	GCAGCGCATGGAGGCAATGTATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGG
587777466	143137	NM_001128159.2(VPS53):c.1556+5G>A	VPS53	May 01, 2014	MedGen:C4014488,OMIM:615851,Orphanet:ORPHA247198	Pontocerebellar hypoplasia, type 2e	germline	17	562498	AAAATCCTCTCTGGCAACCTGCCCAAGTGAGTCCTGTTCTTCATAGTCTGAGTGGTGGCAA
121909334	23512	NM_007126.4(VCP):c.572G>A (p.Arg191Gln)	VCP	Jul 24, 2017	MedGen:C3151403,OMIM:613954;MedGen:C3151403,OMIM:613954;MedGen:C1833662,OMIM:167320,Orphanet:ORPHA52430;MedGen:C1833662,OMIM:167320,Orphanet:ORPHA52430;MedGen:CN517202	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;not provided	germline	9	35065255	TGATCCACTGCGAAGGGGAGCCTATCAAACGAGAGGTGAGTTTTCTCCCTGATTCCAGTAT
748915609	263877	NM_030813.5(CLPB):c.1501G>A (p.Glu501Lys)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72295567	TTCATCATGACCTCCAATGTGGCCAGCGACGAGATCGCACAGCACGCGCTGCAGCTGAGGC
372245668	228225	NM_016614.2(TDP2):c.425+1G>A	TDP2	Dec 28, 2017	MedGen:C4310780,OMIM:616949,Orphanet:ORPHA404493	Spinocerebellar ataxia, autosomal recessive 23	germline	6	24658560	GGCTCGAGGGGTGTGTTCCTACTTAGCTTTGTAAGTATTATCACTTCTATTTAATAGTAAT
121918122	29953	NM_000412.4(HRG):c.308G>A (p.Gly103Glu)	HRG	Jan 01, 1998	MedGen:C2751090,OMIM:613116,Orphanet:ORPHA217467	Thrombophilia, histidine-rich glycoprotein-related	germline	3	186669945	CCTCAAGAGCCTCTTTCTTACAGGTGATCGGACAATGTAAGGTAATAGCTACAAGACATTC
730882032	224922	NM_000551.3(VHL):c.340+1G>A	VHL	Feb 26, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10142188	GCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCCCGACCCAGC
786205866	190049	NM_001958.3(EEF1A2):c.364G>A (p.Glu122Lys)	EEF1A2	Apr 01, 2015	MedGen:C4225337,OMIM:616409;MedGen:C4225343,OMIM:616393	Epileptic encephalopathy, early infantile, 33;Mental retardation, autosomal dominant 38	germline	20	63495062	GCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGCGGGCATCTCCAAGAATGGGC
28937285	25286	NM_000132.3(F8):c.2215G>A (p.Glu739Lys)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154931575	AGTTGTGACAAGAACACTGGTGATTATTACGAGGACAGTTATGAAGATATTTCAGCATACT
869312128	225783	NM_183050.3(BCKDHB):c.3G>A (p.Met1Ile)	BCKDHB	Jan 01, 2014	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	6	80106696	AGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTA
132630317	26079	NM_001399.4(EDA):c.1045G>A (p.Ala349Thr)	EDA	Dec 23, 2015	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005;MedGen:CN517202	Hypohidrotic X-linked ectodermal dysplasia;not provided	germline	X	70035478	GGCAAGACCAACTACAACACTTGCTATACCGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGA
374356079	209389	NM_016008.3(DYNC2LI1):c.993+1G>A	DYNC2LI1	Jun 16, 2015	MedGen:C4310724,OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	germline;paternal	2	43805247	GTCGATGAGATGAGAATTCAGAAGGATCTGGTATTATCCTAAACATTTACTTAATTTCATC
397515554	76591	NM_005120.2(MED12):c.2873G>A (p.Gly958Glu)	MED12	Jun 06, 2013	MedGen:C0220769,OMIM:305450,SNOMED CT:49984004	FG syndrome	not provided	X	71127359	CATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGA
863225457	214863	NM_016218.3(POLK):c.1741G>A (p.Asp581Asn)	POLK	Mar 21, 2014	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75596434	AAACGATCAGAAAGGAAATGGAGTCACCAAGATACATTTAAATGTGAAGCCGTGAATAAAC
199472815	67686	NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1	Sep 06, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2778024	GCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACGCGCCGG
121908007	18859	NM_000456.2(SUOX):c.650G>A (p.Arg217Gln)	SUOX	May 26, 1998	MedGen:CN068763	Sulfite oxidase deficiency, isolated	germline	12	56004039	ACATCACACCCAACCCTATCTTCTTCACCCGGAACCATCTGCCTGTACCTAACCTGGATCC
5030843	15626	NM_000277.2(PAH):c.473G>A (p.Arg158Gln)	PAH	Jul 07, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102866632	GTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTA
758872875	359070	NM_004199.2(P4HA2):c.871G>A (p.Glu291Lys)	P4HA2	Dec 05, 2016	MedGen:C4310655,OMIM:617238	Myopia 25, autosomal dominant	germline	5	132209170	GTGGACTACCTGCCTGAGAGGGATGTTTACGAGAGCCTCTGTCGTGGGGAGGGTGTCAAAC
1057519359	224598	NM_005957.4(MTHFR):c.236+1G>A	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11802880	TGCTGAGGGAGCTGTCAATCTCATCTCAAGGTAAACTCATGCAAGGTTAAGGTGGGAGGCG
104894258	31721	NM_000244.3(MEN1):c.608G>A (p.Trp203Ter)	MEN1	Apr 18, 1997	MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Multiple endocrine neoplasia, type 1	germline	11	64807952	CCAATGGGGAGCAGACAGCTGAGGTCACCTGGCACGGCAAGGGCAACGAGGACCGCAGGGG
74603784	15668	NM_000277.2(PAH):c.136G>A (p.Gly46Ser)	PAH	Jan 01, 1996	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102912823	TCACTGATCTTCTCACTCAAAGAAGAAGTTGGTGCATTGGCCAAAGTATTGCGCTTATTTG
28940885	18720	NM_000403.3(GALE):c.956G>A (p.Gly319Glu)	GALE	Sep 12, 2014	MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004;MedGen:CN517202	UDPglucose-4-epimerase deficiency;not provided	germline	1	23796183	CCAACCCCAGCCTGGCCCAAGAGGAGCTGGGGTGGACAGCAGCCTTAGGGCTGGACAGGAT
267606816	26816	NM_001110556.1(FLNA):c.862G>A (p.Gly288Arg)	FLNA	Jan 02, 2007	MedGen:C0262436,OMIM:314400,Orphanet:ORPHA1864	Cardiac valvular dysplasia, X-linked	germline	X	154367403	AAACTGAACCCGAAGAAAGCCCGTGCCTACGGGCCAGGTGAGGGAGCCCCACCAGGGGTGC
63750597	472825	NM_000251.2(MSH2):c.1661G>A (p.Ser554Asn)	MSH2	Sep 07, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47466808	TCCAGAAGAATGGTGTTAAATTTACCAACAGGTTTGCAAGTCGTTATTATATTTTTAACCC
533755473	224629	NM_000255.3(MUT):c.1277G>A (p.Gly426Glu)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49451521	CTGGGATTCCCAAAGTGGCTGATCCTTGGGGAGGTTCTTACATGATGGAATGTCTCACAAA
587777277	132020	NM_005654.5(NR2F1):c.335G>A (p.Arg112Lys)	NR2F1	Feb 06, 2014	MedGen:C3810363,OMIM:615722,Orphanet:ORPHA401777	Bosch-Boonstra-Schaaf optic atrophy syndrome	de novo;germline	5	93585358	CCTGCGAGGGCTGCAAAAGTTTCTTCAAGAGGAGCGTCCGCAGGAACTTAACTTACACATG
121965034	15185	NM_000274.3(OAT):c.3G>A (p.Met1Ile)	OAT	Feb 01, 1991	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124412169	TCTGTGGTTTTTCTACTTGAAGGACACAATGTTTTCCAAACTAGCACATTTGCAGAGGTTT
118192101	24622	m.8313G>A	MT-TK	Nov 12, 2012	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	MT	8313	CCCTCTAGAGCCCACTGTAAAGCTAACTTAGCATTAACCTTTTAAGTTAAAGATTAAGAGA
28939078	20392	NM_016006.4(ABHD5):c.778G>A (p.Glu260Lys)	ABHD5	Jul 16, 2004	MedGen:C0268238,OMIM:275630,Orphanet:ORPHA98907,SNOMED CT:19604005	Triglyceride storage disease with ichthyosis	germline	3	43717675	TCGTGATTTTCTCCTTGCCGTTAAAGTGGTGAGACAGCTTTCAAGAATATGACTATTCCTT
397514499	48025	NM_004069.4(AP2S1):c.44G>A (p.Arg15His)	AP2S1	Oct 10, 2017	MedGen:C1833372,OMIM:600740,Orphanet:ORPHA101050;MedGen:CN517202	Hypocalciuric hypercalcemia, familial, type III;not provided	germline	19	46846102	TCCTCATCCAGAACCGGGCAGGCAAGACGCGCCTGGCCAAGTGGTACATGCAGTTTGATGA
587783756	170027	NM_000252.2(MTM1):c.1136G>A (p.Trp379Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150657903	GTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGC
121434343	17071	NM_017780.3(CHD7):c.6322G>A (p.Gly2108Arg)	CHD7	Jan 01, 2008	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60853047	CGAGACTTGCTGGTTGGTGCTGCTAAACACGGGGTCAGTCGGACGGATTATCACATCCTCA
587783843	169956	NM_000252.2(MTM1):c.63+1G>A	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150592678	CACTCCTTGGAGAATGAGTCTATTAAGAGGGTAAGTTGAATTTTCAGATTTATCTGTCTCT
72645356	414019	NM_000088.3(COL1A1):c.977G>A (p.Gly326Asp)	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	maternal	17	50196180	CTCTCCTGCAGGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCTGTGAG
797045623	207862	NM_000207.2(INS):c.188-31G>A	INS	Jun 28, 2016	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885;MedGen:CN517202	Permanent neonatal diabetes mellitus;not provided	germline	11	2160028	TCCTGTGTCCCTCTGCCTCGCCGCTGTTCCGGAACCTGCTCTGCGCGGCACGTCCTGGCAG
111033615	25336	NM_000132.3(F8):c.5900G>A (p.Gly1967Asp)	F8	Apr 01, 1994	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904004	AAAGGATTCGATGGTATCTGCTCAGCATGGGCAGCAATGAAAACATCCATTCTATTCATTT
776569219	442955	NM_001271208.1(NEB):c.11627G>A (p.Trp3876Ter)	NEB	Jun 30, 2017	MedGen:C1850569,OMIM:256030;MedGen:CN517202	Nemaline myopathy 2;not provided	germline	2	151612364	TTCAGGCTATTTACAAATCTGATCTTGAGTGGCTGAGAGGCATAGGATGGGTTCCCATTGG
376252276	76611	NM_012144.3(DNAI1):c.1490G>A (p.Gly497Asp)	DNAI1	Jun 22, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia;Kartagener syndrome	germline	9	34513112	GCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGA
886037869	247750	NM_016004.4(IFT52):c.595G>A (p.Ala199Thr)	IFT52	Aug 30, 2016	MedGen:C4310718,OMIM:617102	Short-rib thoracic dysplasia 16 with or without polydactyly	germline	20	43613959	GTCTGCTTCCCACTTAACAGACCCATTTTGGCTTTCTATCACTCAAAGGTACAGCTTTTCT
1057517988	360608	NM_001849.3(COL6A2):c.855+1G>A	COL6A2	Oct 17, 2016	MedGen:CN517202	not provided	germline	21	46115926	CCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCC
770446752	411605	NM_015909.3(NBAS):c.1749G>A (p.Trp583Ter)	NBAS	-	MedGen:C3809651,OMIM:616483,Orphanet:ORPHA464724	Infantile liver failure syndrome 2	germline	2	15468510	TATGCAGAGTAAAATAAAGAAGCGATCCTGGGTTCTCCATGAGTGTTTGGAAAGAGTTCCT
373607247	425322	NM_022089.3(ATP13A2):c.212G>A (p.Trp71Ter)	ATP13A2	Jun 06, 2017	MedGen:CN517202	not provided	germline	1	17005450	CTTTGCTGCTCTTCCGTTGGAAGCCCCTGTGGGGGGTGCGGCTGCGGCTCCGGCCCTGCAA
946234163	224769	NM_001257989.1(TYMP):c.865G>A (p.Glu289Lys)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526639	CGCTGCGTGGGCCACGCCCTGGAGGTGGAGGAGGCGCTGCTCTGCATGGACGGCGCAGGCC
1085307119	404677	NM_000988.4(RPL27):c.-2-1G>A	RPL27	Mar 28, 2017	MedGen:CN241838,OMIM:617408	Diamond-Blackfan anemia 16	germline	17	42998748	TTAAGTGGCCCTTTCTCCTTGCTCTCTGCAGAAATGGGCAAGTTCATGAAACCTGGGAAGG
121918484	28351	NM_000506.3(F2):c.1054G>A (p.Glu352Lys)	F2	Jan 01, 2000	MedGen:C0272317,SNOMED CT:33297000	Hereditary factor II deficiency disease	germline	11	46726761	TTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAAGAGAGCTCCTGGAATCCTACATCGACG
61753245	186702	NM_000288.3(PEX7):c.618G>A (p.Trp206Ter)	PEX7	Nov 14, 2017	MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789;MedGen:CN517202	Rhizomelic chondrodysplasia punctata type 1;not provided	germline;unknown	6	136866718	ACATCAGGCAGAAATCTTGAGTTGTGACTGGTGTAAATACAATGAGGTATAGTGTATGGCT
121918509	28337	NM_000141.4(FGFR2):c.1882G>A (p.Ala628Thr)	FGFR2	Dec 07, 2016	MedGen:C0265269,OMIM:149730,SNOMED CT:23817003;MedGen:CN517202	Levy-Hollister syndrome;not provided	germline	10	121488095	TCTTGATTTCAGTGTATTCATCGAGATTTAGCAGCCAGAAATGTTTTGGTAACAGAAAACA
199476128	24705	m.6480G>A	MT-CO1	Nov 01, 1998	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	MT	6480	CTCTTCGTCTGATCCGTCCTAATCACAGCAGTCCTACTTCTCCTATCTCTCCCAGTCCTAG
397509411	70508	NM_001376.4(DYNC1H1):c.10151G>A (p.Arg3384Gln)	DYNC1H1	Jun 01, 2013	MedGen:C3281202,OMIM:614563	Mental retardation, autosomal dominant 13	germline	14	102033136	ATCCAAGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATGGTGAA
1057523751	368619	NM_000094.3(COL7A1):c.5388+5G>A	COL7A1	Jul 03, 2017	MedGen:CN517202	not provided	germline	3	48579192	GAGCCGCTGGGCCCTCTGGGCCGAATGTGAGTCTTGGTAGTCCTGCCTGGTTGTCCCCTTC
1064796499	410068	NM_000088.3(COL1A1):c.3416G>A (p.Gly1139Asp)	COL1A1	Feb 22, 2017	MedGen:CN517202	not provided	germline	17	50187491	AAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCT
104886313	35768	NM_000495.4(COL4A5):c.1587+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597069	GCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAG
515726224	136395	NM_023110.2(FGFR1):c.1460G>A (p.Gly487Asp)	FGFR1	Oct 24, 2013	MedGen:C1563720,OMIM:147950	Kallmann syndrome 2	germline	8	38417962	GACTGGTCTTAGGCAAACCCCTGGGAGAGGGCTGCTTTGGGCAGGTGGTGTTGGCAGAGGC
886041692	264094	NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln)	KIF1A	Aug 05, 2016	MedGen:CN517202	not provided	germline	2	240783776	TCAGCCTGGTGGACCTGGCTGGGAGCGAGCGGGCTGACTCCACGGGAGCCAAGGGCACGCG
773618224	389107	NM_021222.2(PRUNE1):c.316G>A (p.Asp106Asn)	PRUNE1	Dec 11, 2017	Human Phenotype Ontology:HP:0012443,MedGen:C4021085;MedGen:CN243994,OMIM:617481	Abnormality of brain morphology;Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	germline;inherited	1	151018650	CAGGCTGGCCAACTCACCCTCATCCTTGTCGACCATCATATCTTATCCAAGTAAGCACAAG
985064686	440082	NM_001199397.1(NEK1):c.1226G>A (p.Trp409Ter)	NEK1	Jun 01, 2017	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	unknown	4	169561520	AAAGAATAAATAGGGCCAGGGAACAAGGATGGAGAAATGTGCTAAGTGCTGGTGGAAGTGG
863225042	213898	NM_001256794.1(BMPR1B):c.657G>A (p.Trp219Ter)	BMPR1B	Jun 01, 2014	MedGen:C4225404,OMIM:609441	Acromesomelic dysplasia, Demirhan type	germline	4	95129933	GATTGGAAAAGGTCGCTATGGGGAAGTTTGGATGGGAAAGTGGCGTGGCGAAAAGGTAGCT
80338663	76456	NM_000081.3(LYST):c.8428G>A (p.Glu2810Lys)	LYST	Feb 16, 2012	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	not provided	1	235734590	CATAATCACCAAGGTGAATTGACTGAAGAAGAGCTAGGCACAGCAGAACTGCTTATGAATG
142027093	191968	NM_213599.2(ANO5):c.1898+1G>A	ANO5	Aug 21, 2017	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2L;not provided	germline	11	22263044	TTTTGGAAACATTAAAGAAGCCATTTATCCGTATGTATGACTTACAAGCTTTTTATTTGAT
80358042	46002	NM_007294.3(BRCA1):c.212+1G>A	BRCA1	Mar 10, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43106455	TCCTTTATGTAAGAATGATATAACCAAAAGGTATATAATTTGGTAATGATGCTAGGTTGGA
-1	452440	NM_181426.1(CCDC39):c.1874+1G>A	CCDC39	Jun 03, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	3	180641992	ATATGTTGATCAAGAACGGGAAAACATAAGGTAATTTTCAGTTTTAAAACTGCTGAGGAAT
752924362	230781	NM_023036.5(DNAI2):c.1304G>A (p.Trp435Ter)	DNAI2	Jun 29, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C2676235,OMIM:612444	Ciliary dyskinesia;Ciliary dyskinesia, primary, 9	germline;unknown	17	74309345	CCACCAGGATGGACGGAACCCTGGATATCTGGGACTTCATGTTCGAGCAGTGCGATCCCAC
587777450	141332	NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His)	PIEZO2	Jun 04, 2014	MedGen:C0220666,OMIM:114300,SNOMED CT:237850008;MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154	Gordon's syndrome;Oculomelic amyoplasia	de novo;germline	18	10671729	CAGTTGTCCTTGTGATTGGGAAATTTGTCCGTGAATTCTTCAGTGGGATTTCTCACTCCAT
372010465	210411	NM_000071.2(CBS):c.1111G>A (p.Val371Met)	CBS	Aug 05, 2016	MedGen:C3150344,OMIM:236200;MedGen:CN517202	Homocystinuria due to CBS deficiency;not provided	germline;unknown	21	43060475	GCGCAGGAGCTGCAGGAGGGCCAGCGCTGCGTGGTCATTCTGCCCGACTCAGTGCGGAACT
750987123	431652	NM_001029883.2(C2orf71):c.758G>A (p.Trp253Ter)	C2orf71	Jan 01, 2015	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005	Retinal dystrophy	unknown	2	29073504	TCCTGCAGGAAGTCAGGGAGGATCTGGCTTGGCCTTTGAAGAAAAGAGAGCCCCAGGAGCA
387907064	39901	NM_001145320.1(ADAMTSL2):c.215G>A (p.Arg72Gln)	ADAMTSL2	Jun 01, 2011	MedGen:C3278147,OMIM:231050,SNOMED CT:28557005	Geleophysic dysplasia 1	germline	9	133537529	GTTGCGGGGGTGGGGTGACATCCCAGGAGCGGCACTGCCTGCAGCAGAGGTGCGAGGTTGG
387907194	40347	NM_003070.4(SMARCA2):c.3395G>A (p.Gly1132Asp)	SMARCA2	Apr 01, 2012	MedGen:C1303073,OMIM:601358,Orphanet:ORPHA3051,SNOMED CT:401046009	Nicolaides-Baraitser syndrome	germline	9	2110356	TCTTGCTGAGCACAAGAGCTGGTGGCCTGGGCTTAAATCTTCAGGCAGCTGATACAGTGGT
62636503	77568	NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys)	NEFL	Mar 06, 2018	MedGen:CN847583,OMIM:617882;MedGen:C1843225,OMIM:607684,Orphanet:ORPHA99939;MedGen:CN517202	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G;Charcot-Marie-Tooth disease type 2E;not provided	germline	8	24953779	ATCTGCATCCCCAGGAAACTCTTGGAAGGCGAGGAGACCCGACTCAGTTTCACCAGCGTGG
104894775	26202	NM_000074.2(CD40LG):c.419G>A (p.Trp140Ter)	CD40LG	Apr 01, 1995	MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088	Immunodeficiency with hyper IgM type 1	germline	X	136659048	CTTTCCCTTTCTTTGTAACAGTGTTACAGTGGGCTGAAAAAGGATACTACACCATGAGCAA
79560904	28608	NM_000212.2(ITGB3):c.740G>A (p.Gly247Asp)	ITGB3	Mar 01, 2010	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	47286385	GTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGT
121908097	19297	NM_000784.3(CYP27A1):c.1421G>A (p.Arg474Gln)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	germline	2	218814702	TTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCT
56829062	24353	NM_000423.2(KRT2):c.1426G>A (p.Glu476Lys)	KRT2	Nov 01, 1998	MedGen:C0432306,OMIM:146800,Orphanet:ORPHA455,SNOMED CT:254169002;MedGen:CN517202	Ichthyosis bullosa of Siemens;not provided	germline	12	52646783	CTGATGAACGTGAAGCTGGCCCTAGATGTGGAGATCGCCACCTACCGCAAACTGCTGGAGG
-1	426009	NM_012064.3(MIP):c.698G>A (p.Arg233Lys)	MIP	May 08, 2017	MedGen:CN517202	not provided	germline	12	56451374	TCTTCCCCCGGCTCAAGAGTATTTCTGAGAGACTGTCTGTCCTCAAGGGTGCCAAACCCGA
1060501650	398037	NM_000051.3(ATM):c.8880G>A (p.Trp2960Ter)	ATM	Oct 16, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	germline	11	108365111	GGTCCTTCTATATGATCCACTCTTTGACTGGACCATGAATCCTTTGAAAGCTTTGTATTTA
63750144	95889	NM_000249.3(MLH1):c.884G>A (p.Ser295Asn)	MLH1	Aug 13, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37017599	CCAAAAACACACACCCATTCCTGTACCTCAGGTAATGTAGCACCAAACTCCTCAACCAAGA
730881979	181057	NM_000455.4(STK11):c.526G>A (p.Asp176Asn)	STK11	Apr 07, 2017	MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:ORPHA2869,SNOMED CT:54411001	Peutz-Jeghers syndrome	germline;somatic	19	1220434	TACCTGCATAGCCAGGGCATTGTGCACAAGGACATCAAGCCGGGGAACCTGCTGCTCACCA
121908153	19416	NM_001243133.1(NLRP3):c.907G>A (p.Asp303Asn)	NLRP3	Nov 28, 2017	MedGen:C0409818,OMIM:607115,Orphanet:ORPHA1451,SNOMED CT:239826001;MedGen:C2316212,Orphanet:ORPHA208650,SNOMED CT:430079001;MedGen:C0268390,OMIM:191900,Orphanet:ORPHA575,SNOMED CT:15123008;MedGen:C0343068,OMIM:120100,Orphanet:ORPHA47045,SNOMED CT:238687000;MedGen:CN517202	Chronic infantile neurological, cutaneous and articular syndrome;Cryopyrin associated periodic syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not provided	germline	1	247424356	TCCAGAATCCTCTTCCTCATGGACGGCTTCGATGAGCTGCAAGGTGCCTTTGACGAGCACA
-1	440096	NM_147127.4(EVC2):c.3360+1G>A	EVC2	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	unknown	4	5574684	GCAGACACCTTTGCAACCCTGTGCAGCCAGGTGAGAAGGTACTGGCAGGGTCTGAGGCCAC
794726743	449138	NM_001165963.2(SCN1A):c.2261G>A (p.Trp754Ter)	SCN1A	Mar 04, 2017	MedGen:C0393706,Orphanet:ORPHA1934	Early infantile epileptic encephalopathy	germline	2	166041385	TATTCTTAATCTGGGACTGTTCTCCATATTGGTTAAAAGTGAAACATGTTGTCAACCTGGT
587784059	168325	NM_133433.3(NIPBL):c.869-1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36975775	AACTGTTACTTCTATCGAATTATTTTTCTAGGCTCAAGACCACCTTTAATCCTACAATCTC
387907116	40082	NM_152383.4(DIS3L2):c.1466G>A (p.Cys489Tyr)	DIS3L2	Feb 05, 2012	MedGen:C0796113,OMIM:267000,Orphanet:ORPHA2849	Renal hamartomas nephroblastomatosis and fetal gigantism	germline	2	232263247	AATGGTTTGGCCGGACCATCATCCGCTCCTGCACCAAACTTAGCTACGAGCATGCACAGAG
67486158	103009	NM_000531.5(OTC):c.148G>A (p.Gly50Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38367361	CGTGACCTTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATATATGCTATGGCTAT
748112833	199853	NM_013254.3(TBK1):c.2086G>A (p.Glu696Lys)	TBK1	Jul 01, 2015	MedGen:C4225325,OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	germline	12	64497987	TATTTTATTAGTATGAAGAAATTAAAGGAAGAGATGGAAGGGGTGGTTAAAGAACTTGCTG
398124126	100856	NM_004369.3(COL6A3):c.6210+1G>A	COL6A3	Aug 15, 2016	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090;MedGen:CN517202	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided	germline	2	237361120	CGAGGCTATCCTGGTGATGAGGGTGGACCCGTAAGTAAAAATTGTTTTAGTCCCTAAAATT
199475693	462148	NM_000277.2(PAH):c.865G>A (p.Gly289Arg)	PAH	Jun 28, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006	Phenylketonuria	germline	12	102851734	TCTTTCAGTGACATCTGCCATGAGCTGTTGGGACATGTGCCCTTGTTTTCAGATCGCAGCT
-1	434432	NM_172250.2(MMAA):c.575G>A (p.Gly192Asp)	MMAA	-	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145645998	TGTAACTGTATGTTTTAGGATCACTCTTAGGTGATAAAACCCGAATGACTGAGTTATCAAG
1131691547	421284	NM_001271208.1(NEB):c.8265+1G>A	NEB	Sep 01, 2015	MedGen:CN517202	not provided	germline	2	151642764	GCTAAACAAAACAAAGTAAATTACAGTGAGGTAAGTAATATATTCATAGTGCGTGATACAT
794726699	187745	NM_001165963.1(SCN1A):c.4302G>A (p.Trp1434Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	maternal	2	165999759	TCCTTCTTAATAGGCCACATTCAAAGGATGGATGGATATAATGTATGCAGCAGTTGATTCC
748190164	215043	NM_000520.5(HEXA):c.340G>A (p.Glu114Lys)	HEXA	Apr 07, 2011	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72356531	TGTAACCAGCTTCCTACTTTGGAGTCAGTGGAGAATTGTAAGTACCATCCTGTTCCCTGTC
587782944	165543	NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr)	FBN1	Jul 18, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48513641	CAGATGTTGATGAATGTGAGAAAAACCCCTGTGCTGGTGGTGAGTGTATTAACAACCAGGG
758115945	207919	NM_000372.4(TYR):c.661G>A (p.Glu221Lys)	TYR	May 15, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008	Tyrosinase-negative oculocutaneous albinism	germline	11	89178614	CATAGACTCTTCTTGTTGCGGTGGGAACAAGAAATCCAGAAGCTGACAGGAGATGAAAACT
757252110	245853	NM_000527.4(LDLR):c.915G>A (p.Trp305Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107489	CTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAG
1057516983	357134	NM_000016.5(ACADM):c.387+1G>A	ACADM	Oct 12, 2016	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	unknown	1	75733629	CAGACTGCTATTGAAGGAAATTCTTTGGGGGTAAGTGACTTAGAAAATTAACTACCTAACT
80359214	67497	NM_000059.3(BRCA2):c.93G>A (p.Trp31Ter)	BRCA2	Dec 06, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32319102	AATAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCC
587777106	102967	NM_001013703.3(EIF2AK4):c.1754G>A (p.Arg585Gln)	EIF2AK4	Feb 12, 2014	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	39973685	TCTTTAGTGAGACACAGAGACAGTTTTCCCGATACTTCATTGAGTTTGAAGAATTACAACT
121964954	27067	NM_004453.3(ETFDH):c.250G>A (p.Ala84Thr)	ETFDH	May 02, 2017	MedGen:C3278156;MedGen:C0268596,OMIM:231680,Orphanet:ORPHA26791,SNOMED CT:22886006;MedGen:CN517202	Glutaric acidemia IIC;Glutaric aciduria, type 2;not provided	germline	4	158682269	GTTGGTGCAGGCCCTGCAGGGCTCTCTGCAGCTGTTCGTCTAAAACAGTTGGCTGTGGCAC
200549601	247529	NM_016213.4(TRIP4):c.950G>A (p.Arg317Gln)	TRIP4	Aug 10, 2016	MedGen:C4310736,OMIM:617066	Muscular dystrophy, congenital, davignon-chauveau type	germline	15	64409735	AGAAGCGAGAGGAGGAGCTGAGAGAACTTCGACACGCCTCTCGACTTTCTAAGAAGGTCAC
397515544	76560	NM_001876.3(CPT1A):c.2156G>A (p.Gly719Asp)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	not provided	11	68759648	ATTCCCTTGTCCTCCAGGTTGCTGATGACGGCTATGGTGTGTCGTACATCCTTGTGGGAGA
111033677	36492	NM_000155.3(GALT):c.337G>A (p.Asp113Asn)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647665	GAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTC
200444084	187022	NM_000271.4(NPC1):c.3557G>A (p.Arg1186His)	NPC1	Feb 24, 2017	MedGen:C3179455,OMIM:257220;MedGen:CN517202	Niemann-Pick disease type C1;not provided	germline;unknown	18	23534480	CGGTGAGCATGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGCAG
387906290	359873	NM_000218.2(KCNQ1):c.922-1G>A	KCNQ1	May 12, 2016	MedGen:CN517202	not provided	germline	11	2583434	CCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGAC
397514494	48018	NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln)	TRPV4	Dec 02, 2016	MedGen:C2079540,OMIM:606071;Gene:8094,MedGen:C1838492,OMIM:600175,Orphanet:ORPHA1216;MedGen:C0027868,Orphanet:ORPHA68381;MedGen:CN517202	Charcot-Marie-Tooth disease type 2C;Distal spinal muscular atrophy, congenital nonprogressive;Neuromuscular Diseases;not provided	germline	12	109808298	ACAAGAAACGCCTAACTGATGAGGAGTTTCGAGGTGAGCCACCCAGATGGGCATAGCCAGT
121917742	28163	NM_000537.3(REN):c.689G>A (p.Arg230Lys)	REN	Sep 01, 2005	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001	Renal dysplasia	germline	1	204159399	AAGAGGACGTCTTCTCTTTCTACTACAACAGGTGGGGACTGGGACTCCAAGGGCTGAGGTG
150774447	104955	NM_000350.2(ABCA4):c.161G>A (p.Cys54Tyr)	ABCA4	Jan 01, 2016	MedGen:C1858806,OMIM:604116;MedGen:C1866422,OMIM:601718;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Cone-rod dystrophy 3;Retinitis pigmentosa 19;Stargardt disease 1;not provided	germline	1	94111579	CCCGTCTTGTCCTCATTTTCTGTTTTAAAGGCCATTTCCCCAACAAGGCGATGCCCTCAGC
121912295	26625	NM_001363.4(DKC1):c.1205G>A (p.Gly402Glu)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154774651	TGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTG
199839039	175965	NM_153700.2(STRC):c.4701+1G>A	STRC	Nov 23, 2015	MedGen:C1863561,OMIM:603720;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 16;Nonsyndromic hearing loss and deafness	germline;paternal	15	43601395	GGGCAGATAGATGGCTGGAGCACCACTCAGGTAACACTTTTCCTCCTCCCTACGGCTTCCC
61195471	57234	NM_170707.3(LMNA):c.607G>A (p.Glu203Lys)	LMNA	Jul 14, 2017	MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;not provided	germline	1	156134496	GCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTG
199473383	78479	NM_000891.2(KCNJ2):c.644G>A (p.Gly215Asp)	KCNJ2	Feb 18, 2017	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000	Andersen Tawil syndrome;Congenital long QT syndrome	germline	17	70175683	ACGGCAAGCTGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGCCACTTGGTGGAAGC
367928692	55166	NM_022124.5(CDH23):c.6050-9G>A	CDH23	Sep 27, 2016	MedGen:C1832845,OMIM:601067;MedGen:CN517202	Usher syndrome, type 1D;not provided	germline;unknown	10	71791123	TTTCTGTGTGTTTCCCTGGCTGGCGGCACCGGGTGCCAGGTGTGGTGACCGTGAGGTCAGG
1135401743	390707	NM_012205.2(HAAO):c.558G>A (p.Trp186Ter)	HAAO	Sep 21, 2017	MedGen:CN241975;MedGen:CN482173,OMIM:617660	Congenital NAD deficiency disorder;VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1	germline	2	42769785	CATCATGGAGCCCATGTCCCTGGATGCCTGGCTGGACAGCCACCACAGGGAGCTGCAGGCA
104886225	35958	NM_000495.4(COL4A5):c.3319G>A (p.Gly1107Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	germline	X	108655403	AAAGGTTCTGTGGGAGATCCTGGTTTGCCCGGATTACCAGGAACCCCTGGAGCAAAAGGAC
786205058	16440	NM_153609.3(TMPRSS6):c.1582+1G>A	TMPRSS6	May 01, 2008	Human Phenotype Ontology:HP:0001935,MedGen:C0085576,OMIM:206200,Orphanet:ORPHA209981,SNOMED CT:234349007	Microcytic anemia	germline	22	37073531	ACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAGGCCTAGCCGAGTGTCTGGAGGG
121964875	27278	NM_004360.4(CDH1):c.59G>A (p.Trp20Ter)	CDH1	Apr 01, 1999	MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary diffuse gastric cancer	germline	16	68738307	CTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCC
143523371	265192	NM_000152.4(GAA):c.546G>A (p.Thr182=)	GAA	May 03, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80105132	GATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCC
121908005	18871	NM_000017.3(ACADS):c.268G>A (p.Gly90Ser)	ACADS	Jan 01, 2001	MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007	Deficiency of butyryl-CoA dehydrogenase	germline	12	120737043	CTGGCCATGGACGTGCCCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTACGCCA
527236037	152906	NM_000263.3(NAGLU):c.1949G>A (p.Gly650Glu)	NAGLU	-	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	inherited	17	42543955	AGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAA
80356504	47564	NM_001457.3(FLNB):c.502G>A (p.Gly168Ser)	FLNB	Oct 09, 2008	MedGen:CN164251,SNOMED CT:43814000	FLNB-Related Disorders	not provided	3	58077255	ATCACCAACTTTAACCAGAACTGGCAAGACGGCAAAGCCCTGGGAGCCCTGGTAGACAGCT
104894971	24793	NM_003140.2(SRY):c.53G>A (p.Ser18Asn)	SRY	May 01, 2000	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787551	TGTTAAGCGTATTCAACAGCGATGATTACAGTCCAGCTGTGCAAGAGAATATTCCCGCTCT
113994136	33344	NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln)	STAT3	Jun 07, 2012	MedGen:C0022398,OMIM:147060,SNOMED CT:50926003	Hyperimmunoglobulin E syndrome	germline	17	42329642	AGTTGATTGTTCCCCTGTGATTCAGATCCCGGAAATTTAACATTCTGGGCACAAACACAAA
113994108	32460	NM_001845.5(COL4A1):c.2159G>A (p.Gly720Asp)	COL4A1	Mar 08, 2011	MedGen:C1843512,OMIM:607595	Brain small vessel disease with hemorrhage	germline	13	110181326	CGGGGACTCCAGGTCGCCCGGGATTTAATGGCTTACCTGGGAACCCAGGTGTGCAGGGCCA
28928897	29629	NM_000422.2(KRT17):c.281G>A (p.Arg94His)	KRT17	Dec 01, 2001	MedGen:C1721007,OMIM:167210;Human Phenotype Ontology:HP:0012035,MedGen:C0259771,OMIM:184500,Orphanet:ORPHA841,SNOMED CT:109433009;MedGen:CN517202	Pachyonychia congenita 2;Steatocystoma multiplex;not provided	germline	17	41624229	AGAAGGCCACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGC
1085307442	414420	NM_001013703.3(EIF2AK4):c.3159G>A (p.K975_K1053del)	EIF2AK4	-	MedGen:C0340848,OMIM:234810,SNOMED CT:234161007	Familial pulmonary capillary hemangiomatosis	germline	15	40001224	CGATTACACCTATGACAGCGACATACTGAAGGTGGGCTTAAGCCACGCTGCACAAAGGGAG
-1	426865	NM_001171.5(ABCC6):c.3633+1G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16161437	GTGGGCTTCTCTGTCTCTGCTGCCCTCCAGGTACTCCCCACATCCCCAAACTGGGCTTGAG
533916138	18258	NM_013382.5(POMT2):c.1006+1G>A	POMT2	Dec 10, 2015	MedGen:C3150411,OMIM:613150;MedGen:C3150418,OMIM:613158,Orphanet:ORPHA206559	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	germline	14	77298688	ACAACCTGCACAATGCTTCCATCCCTGAACGTGAGTGTCTCTGGGCCATTACAAAGGTAGA
786203954	182800	NM_000535.6(PMS2):c.354-1G>A	PMS2	Dec 26, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	7	6002637	TGAACACACCATGCCTGGTATTCTCTCACAGCGATGTCACCATTTCTACCTGCCACGCATC
121909121	22410	NM_001083962.1(TCF4):c.1739G>A (p.Arg580Gln)	TCF4	Oct 27, 2017	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;MedGen:CN517202	Pitt-Hopkins syndrome;not provided	germline	18	55228987	GGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGA
121434302	20521	NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr)	FBLN5	Jun 01, 2011	MedGen:C1837187,OMIM:608895	Age-related macular degeneration 3	germline	14	91877585	ATGGACGTGGTGTCAGGACGCTCCGTTCCCGCTGACATCTTCCAAATGCAAGCCACGACCC
63750499	95540	NM_000249.3(MLH1):c.2136G>A (p.Trp712Ter)	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37050518	TGAAGTGCCTGGCTCCATTCCAAACTCCTGGAAGTGGACTGTGGAACACATTGTCTATAAA
80358041	70194	NM_007294.3(BRCA1):c.5332+1G>A	BRCA1	Jun 14, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43051062	GCTATGGGCCCTTCACCAACATGCCCACAGGTAAGAGCCTGGGAGAACCCCAGAGTTCCAG
373517016	446763	NM_002637.3(PHKA1):c.2606+1G>A	PHKA1	Oct 16, 2017	MedGen:CN517202	not provided	germline	X	72609623	TCCAGAACCTCGAGAAAAGACTATCTCTGCGTGAGTATGGCTGGGTTTGGTCAGGCTTCTC
1060502726	401513	NM_024675.3(PALB2):c.2711G>A (p.Trp904Ter)	PALB2	Aug 11, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	16	23626273	TAGTTTCTCTTTGGAAAGCTCTGGATGCTTGGCAGTGGGAAAAACTTTATACCTGGCACTT
121908548	20944	NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	SCN4A	Jul 29, 2015	MedGen:C1868617,OMIM:168300;MedGen:C0752355,OMIM:608390,Orphanet:ORPHA99734;MedGen:CN517202	Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided	germline	17	63941517	TGCAGCTATATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATCGCCATCATCCTGG
143493067	439218	NM_016327.2(UPB1):c.917-1G>A	UPB1	May 08, 2017	MedGen:CN517202	not provided	germline	22	24523618	CTCACAGATGTGTTTCTTTGTTCCTTTAAAGCTCACCAGGACTTTGGCTACTTTTATGGCT
28942080	18735	NM_000527.4(LDLR):c.1567G>A (p.Val523Met)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841;MedGen:CN517202	Familial hypercholesterolemia;Familial hypercholesterolemias;not provided	germline;inherited;not applicable	19	11113743	AGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGGTGCGTATCCA
587783696	168908	NM_003482.3(KMT2D):c.15195G>A (p.Trp5065Ter)	KMT2D	Feb 08, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49026771	CCTGTGGGTGCACCTCAACTGTGCCCTTTGGTCCACGGAGGTGTATGAGACCCAGGGCGGG
587777292	132051	NM_173086.4(KRT6C):c.1414G>A (p.Glu472Lys)	KRT6C	Jul 21, 2017	MedGen:C3810394,OMIM:615735,Orphanet:ORPHA402003;MedGen:CN517202	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse;not provided	germline	12	52469680	ATCGCCACCTACCGCAAGCTGCTGGAGGGCGAGGAGTGCAGGTAGGTAACTGACGCGACTT
143670942	444843	NM_005609.3(PYGM):c.2178-1G>A	PYGM	Feb 19, 2016	MedGen:CN517202	not provided	germline	11	64747359	CGGGGAGCTGACCACAGCTCTGTCCTGGCAGGTACAATGCCCAGGAGTACTACGATCGCAT
398122822	48057	NM_001111.4(ADAR):c.3019G>A (p.Gly1007Arg)	ADAR	Apr 28, 2017	MedGen:C3539013,OMIM:615010;MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED CT:239085000	Aicardi-goutieres syndrome 6;Symmetrical dyschromatosis of extremities	de novo;germline	1	154588125	CAAGGAAAGCTCCGCACCAAGGTGGAGAACGGTGAGTGATACATGCCCCCGCCTCCTTTCC
780595770	481674	NM_007208.3(MRPL3):c.629+1G>A	MRPL3	Jan 12, 2018	MedGen:CN517202	not provided	germline	3	131487679	AGGACAGTATGTGGATGTCACAGCCAAAACGTAGGTCCTCATAGCGAGTTCTCTTTTCCTT
397517436	55536	NM_032119.3(ADGRV1):c.7406G>A (p.Trp2469Ter)	ADGRV1	Jan 30, 2013	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90694162	AGGGTCCCCAGTGTTTCTGGATGACATCATGGATCAGCCCAGCTGTCAACAATTCAGACTT
121909518	33353	NM_001458.4(FLNC):c.8130G>A (p.Trp2710Ter)	FLNC	Feb 03, 2012	MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445	Myofibrillar myopathy, filamin C-related	germline	7	128858475	GAAAGGGGACTACATCCTCATTGTCAAGTGGGGTGACGAAAGTGTCCCTGGAAGCCCCTTC
398122816	40268	NM_004285.3(H6PD):c.960G>A (p.Val320=)	H6PD	Oct 01, 2008	MedGen:C3551716,OMIM:604931	Cortisone reductase deficiency 1	germline	1	9262273	GGGCCAGTACCAGTCTTACAGTGAGCAGGTGCGCAGAGAGCTGCAGAAGCCAGACAGCTTC
587777467	143144	NM_006087.3(TUBB4A):c.5G>A (p.Arg2Gln)	TUBB4A	Mar 23, 2017	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441;MedGen:CN517202	Leukodystrophy, hypomyelinating, 6;not provided	germline	19	6502208	CCGCGTCCACCCTCAGCGCCACCGCCATGCGGGAGATCGTGCACCTGCAGGCCGGCCAGTG
398123909	100437	NM_004006.2(DMD):c.2804-1G>A	DMD	Nov 01, 2012	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32472310	GATTCTCATTCTTTTTTCCCTTTTGATAAAGTTTTTGACACTTTGCCACCAATGCGCTATC
267606676	17787	NM_004183.3(BEST1):c.682G>A (p.Asp228Asn)	BEST1	Apr 22, 2016	MedGen:C2750788,OMIM:613194;MedGen:C2750789;MedGen:CN517202	Retinitis pigmentosa 50;Retinitis pigmentosa, concentric;not provided	germline	11	61957432	CGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACAC
587777706	165720	NM_014753.3(BMS1):c.2789G>A (p.Arg930His)	BMS1	Jun 01, 2013	Human Phenotype Ontology:HP:0001057,MedGen:C0282160,OMIM:107600,Orphanet:ORPHA1114	Aplasia cutis congenita	germline	10	42820527	CGTCCCCTCAGATGCGTCTGAAGAAACATCGCTGGTATAAGAAAATCCTCAAGTCCCGAGA
137852537	24992	NM_000291.3(PGK1):c.959G>A (p.Ser320Asn)	PGK1	Feb 01, 2006	MedGen:C1970848,OMIM:300653,Orphanet:ORPHA713	Phosphoglycerate kinase 1 deficiency	germline	X	78124896	CCCCTCAGGGCTTGGACTGTGGTCCTGAAAGCAGCAAGAAGTATGCTGAGGCTGTCACTCG
769567624	199876	NM_004341.4(CAD):c.1843-1G>A	CAD	Jun 01, 2015	MedGen:C4225320,OMIM:616457,Orphanet:ORPHA448010	Epileptic encephalopathy, early infantile, 50	germline	2	27226130	GCAGTGACCTCCATGGCACCCCCCTTCACAGGTGTGTAACATGGAGAACTTGGACCCACTG
1131691065	420756	NM_003002.3(SDHD):c.314G>A (p.Trp105Ter)	SDHD	Dec 15, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	11	112089011	TGGCTGCAGCCCTCACTCTTCATGGTCACTGGCAAGTATAGCAATTCCAAATATAGTTGTC
377767405	36250	NM_020630.4(RET):c.1889G>A (p.Cys630Tyr)	RET	Dec 04, 2012	na	MEN2A and Unclassified	not provided	10	43114489	TCACACCACCCCCACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGC
145787161	18783	NM_000527.4(LDLR):c.2140+1G>A	LDLR	Jan 19, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120523	TGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGT
398122984	97339	NM_003239.4(TGFB3):c.1226G>A (p.Cys409Tyr)	TGFB3	Aug 01, 2013	MedGen:C3810012,OMIM:615582	Loeys-Dietz syndrome 5	germline	14	75959200	AGCAGCTCTCCAACATGGTGGTGAAGTCTTGTAAATGTAGCTGAGACCCCACGTGCGACAG
397514668	49383	NM_000557.4(GDF5):c.1139G>A (p.Arg380Gln)	GDF5	May 01, 2008	Human Phenotype Ontology:HP:0009372,MedGen:C1832702,OMIM:112600,Orphanet:ORPHA93396	Type A2 brachydactyly	germline	20	35434276	ATGAGTACCTGTTCAGCCAGCGGCGAAAACGGCGGGCCCCACTGGCCACTCGCCAGGGCAA
397507979	262842	NM_000059.3(BRCA2):c.8332-1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32370401	ACTAAATCAATATATTTATTAATTTGTCCAGATTTCTGCTAACAGTACTCGGCCTGCTCGC
104894567	27044	NM_000151.3(G6PC):c.328G>A (p.Glu110Lys)	G6PC	May 01, 1996	MedGen:C2919796,OMIM:232200	Glycogen storage disease type 1A	germline	17	42904028	CCCCTGATAAAGCAGTTCCCTGTAACCTGTGAGACTGGACCAGGTAAGCGTCCCAGCCCCT
587777709	359705	NM_181523.2(PIK3R1):c.1425+1G>A	PIK3R1	Dec 04, 2017	MedGen:C4014934,OMIM:616005;MedGen:CN517202	Immunodeficiency 36;not provided	germline	5	68293835	TTATATGAAGAATATACCCGCACATCCCAGGTGAGTTTTCTATGAAAATCAGATTAAAAAA
587779573	107030	NM_000090.3(COL3A1):c.1923+1G>A (p.Gly624_Gln641del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997754	ACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCAT
397516171	52103	NM_000257.3(MYH7):c.2788G>A (p.Glu930Lys)	MYH7	Mar 24, 2017	MedGen:CN230736;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23424041	AAGGAGATGAACGAGAGGCTGGAGGATGAGGAGGAGATGAATGCTGAGCTCACTGCCAAGA
886039726	260182	NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp)	COL1A1	May 01, 2017	MedGen:CN517202;MedGen:CN169374	not provided;not specified	germline	17	50187067	CTGGCAAAGATGGACTCAACGGTCTCCCTGGCCCCATTGGGCCCCCTGGTCCTCGCGGTCG
398124479	102283	NM_138694.3(PKHD1):c.2407+1G>A	PKHD1	Sep 13, 2012	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	52048491	GCATCCAGCTTCCTAATACAGTGATTTCTGGTAAAGGGGTGATTGGGGTTGCAACAATTCT
397515427	48444	NM_001410.2(MEGF8):c.4496G>A (p.Arg1499His)	MEGF8	Nov 02, 2012	MedGen:C3554247,OMIM:614976	Carpenter syndrome 2	germline	19	42356848	CCGAGGACGGGGGCCCAGGCCCATCGCCCCGCTCCTTCCATGCAGCCGCATATGTGCCCGC
77829017	19335	NM_001005741.2(GBA):c.254G>A (p.Gly85Glu)	GBA	Jan 01, 1996	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155239939	CCTTCAGCCGCTATGAGAGTACACGCAGTGGGCGACGGATGGAGCTGAGTATGGGGCCCAT
137852884	17836	NM_032520.4(GNPTG):c.333G>A (p.Trp111Ter)	GNPTG	Jul 05, 2012	MedGen:C1854896,OMIM:252605,Orphanet:ORPHA423470	Mucolipidosis III Gamma	germline	16	1362053	CCCGTGTCTCCCCAGCATCTGGCACGAGTGGGAGATCGCCAACAACACCTTCACGGGCATG
121434451	22379	NM_005144.4(HR):c.3034G>A (p.Asp1012Asn)	HR	Oct 01, 2002	MedGen:C1859877,OMIM:203655	Alopecia universalis congenita	germline	8	22119227	GGGACCAAGAACCTCTGTGTGGAGGTGGCCGACCTGGTCAGCATCCTGGTGCATGCCGACA
80359003	67069	NM_000059.3(BRCA2):c.7757G>A (p.Trp2586Ter)	BRCA2	Jun 09, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32357881	GAAAAGGAATACAGTTGGCTGATGGTGGATGGCTCATACCCTCCAATGATGGAAAGGCTGG
879255585	205714	NM_001830.3(CLCN4):c.823G>A (p.Val275Met)	CLCN4	Mar 22, 2016	MedGen:CN232948;MedGen:CN517202	CLCN4-related disorder;not provided	de novo;germline	X	10206756	TCTGTTGCCTTTGGTGCACCAATTGGAGGCGTGCTTTTCAGTCTAGAAGAGGTGAGAATGG
869025612	224870	NM_177987.2(TUBB8):c.900G>A (p.Met300Ile)	TUBB8	Jan 21, 2016	MedGen:C4225210,OMIM:616780	Oocyte maturation defect 2	germline	10	47492	CCAGCAGATGTTTGATGCTAAGAACATGATGGCTGCCTGTGACCCCCGTCACGGCCGCTAC
-1	482103	NM_001297.4(CNGB1):c.315G>A (p.Trp105Ter)	CNGB1	Nov 21, 2017	MedGen:CN517202	not provided	germline	16	57963040	TCGCAGTCCCAGCCGCAGGGTACTGACCTGGCTCATGAAGGGCGTAGAGAAGGTGATCCCG
137854618	24440	NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn)	SCN5A	Feb 08, 2017	MedGen:C3151464,OMIM:614022;MedGen:C4016652;MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:C1832680,OMIM:601154;MedGen:CN517202	Atrial fibrillation, familial, 10;Atrial standstill 1, digenic;Brugada syndrome;Dilated cardiomyopathy 1E;not provided	germline	3	38566426	AAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGACGTGAGTGTGGGCA
-1	442720	NM_003238.4(TGFB2):c.932+1G>A	TGFB2	Jul 19, 2017	MedGen:CN517202	not provided	germline	1	218436148	GCGTGCTTTGGATGCGGCCTATTGCTTTAGGTAAAGGAAAGAAAAGTAAAACCAAGTAATT
72554652	26827	NM_000052.6(ATP7A):c.3056G>A (p.Gly1019Asp)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78029389	CAACTGCTGTGATGGTGGGTACAGGAGTAGGTGCTCAAAATGGCATACTAATAAAAGGTGG
-1	426789	NM_001171.5(ABCC6):c.4341G>A (p.Trp1447Ter)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150640	GCTGCAGATGCAGGCCATGCTCGGGAGCTGGTTTGCACAGTGCACTGTGCTGCTCATTGCC
397515890	179334	NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter)	MYBPC3	Aug 31, 2011	MedGen:CN517202	not provided	germline	11	47343527	ACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGC
121912837	32478	NM_000094.3(COL7A1):c.6724G>A (p.Gly2242Arg)	COL7A1	Jun 01, 1999	MedGen:C2675780	Epidermolysis bullosa pruriginosa, autosomal dominant	germline	3	48573047	ATCCGACTTGTTCTCCGTCAGGGTCCACAGGGGTCTCCAGGTTTGCCTGGACAAGTGGTGA
397514469	38996	NM_001165899.1(PDE4D):c.1835G>A (p.Gly612Asp)	PDE4D	Apr 06, 2012	MedGen:C3553250,OMIM:614613	Acrodysostosis 2, with or without hormone resistance	germline	5	58975076	TCATACTGGATTTTTTTCTTAACTAGGTGGGCTTCATAGACTATATTGTTCATCCCCTCTG
-1	440225	NM_015359.5(SLC39A14):c.512G>A (p.Gly171Glu)	SLC39A14	Mar 13, 2017	MedGen:C4310765,OMIM:617013	Hypermanganesemia with dystonia 2	germline	8	22410000	TCTCACTGATTAACCTGGCCTCTCTCCTGGGAGTCCTCGTCCTGCCCTGCACAGAGAAAGC
267607853	95322	NM_000249.3(MLH1):c.1731+1G>A	MLH1	Aug 01, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37042332	TTTGCCAATTTTGGTGTTCTCAGGTTATCGGTAAGTTTAGATCCTTTTCACTTCTGAAATT
1131692258	424471	NM_001005463.2(EBF3):c.486-1G>A	EBF3	Jul 11, 2017	MedGen:CN517202	not provided	germline	10	129957327	ATTAAAACCACTGTTTACAATTGCTCCACAGCCGGTGCTGTGACAAGAAAAGTTGTGGCAA
189315801	481387	NM_000147.4(FUCA1):c.564G>A (p.Trp188Ter)	FUCA1	Nov 08, 2017	MedGen:C0016788,OMIM:230000,Orphanet:ORPHA349,SNOMED CT:64716005	Fucosidosis	germline	1	23863232	CTATGGACTATACCACTCACTCTTAGAGTGGTTCCATCCACTCTATCTACTTGATAAGAAA
1057517542	358917	NM_004360.4(CDH1):c.2296-1G>A	CDH1	Aug 17, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	germline;unknown	16	68829653	TTCATTGTACTTCAACCTTTTTTCTCCAAAGGACTTTGACTTGAGCCAGCTGCACAGGGGC
148311934	44907	NM_000162.3(GCK):c.676G>A (p.Val226Met)	GCK	Oct 11, 2017	MedGen:C1841962,OMIM:125851;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44149763	GAAGACCATCAGTGCGAGGTCGGCATGATCGTGGGTAAGGGCTCCTTGCACCCCTGCCCCT
61752391	104933	NM_000350.2(ABCA4):c.1317G>A (p.Trp439Ter)	ABCA4	Jan 26, 2017	MedGen:CN517202	not provided	germline	1	94078629	AGCCTGGGAAGAAGTAGGGCCCCAGATCTGGTACTTCTTTGACAACAGCACACAGATGAAC
863225129	214164	NM_016434.3(RTEL1):c.1482-1G>A	RTEL1	Jun 16, 2016	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008;MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000	Dyskeratosis congenita;Idiopathic fibrosing alveolitis, chronic form	germline;inherited	20	63687936	CCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACA
104893867	15534	NM_000320.2(QDPR):c.270G>A (p.Trp90Ter)	QDPR	Dec 01, 2000	MedGen:C0268465,OMIM:261630,Orphanet:ORPHA226,SNOMED CT:58256000	Dihydropteridine reductase deficiency	germline	4	17504404	GGATGCAATTCTTTGCGTTGCTGGAGGATGGGCCGGGGGCAATGCCAAATCCAAGTGTGAG
1131690859	420550	NM_000321.2(RB1):c.1389+5G>A	RB1	Oct 29, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48379655	GAGTAATGGAATCCATGCTTAAATCAGTAAGTTAAAAACAATATAAAAAAATTTCAGCCGG
121964955	40255	NM_004453.3(ETFDH):c.524G>A (p.Arg175His)	ETFDH	Dec 01, 2010	MedGen:C3278156	Glutaric acidemia IIC	germline	4	158685137	CAATGAATAATCATGGCAATTACATTGTACGCTTGGGACATTTAGTGAGCTGGATGGGCGA
-1	454864	NM_003060.3(SLC22A5):c.1172G>A (p.Trp391Ter)	SLC22A5	Nov 06, 2016	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline	5	132390809	TGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTA
199476129	24708	m.5920G>A	MT-CO1	Sep 12, 2000	Human Phenotype Ontology:HP:0003652,MedGen:C1838877,OMIM:550500	Myoglobinuria, recurrent	germline	MT	5920	CCTCACCCCCACTGATGTTCGCCGACCGTTGACTATTCTCTACAAACCACAAAGACATTGG
1131690882	420575	NM_000321.2(RB1):c.2325+1G>A	RB1	Feb 19, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	13	48465112	ACAAATATTTTGCAGTATGCTTCCACCAGGGTAGGTCAAAAGTATCCTTTGATTGGAAAAA
137853118	16450	NM_031955.5(SPATA16):c.848G>A (p.Arg283Gln)	SPATA16	Oct 01, 2007	Human Phenotype Ontology:HP:0012205,MedGen:C0403825,OMIM:102530,SNOMED CT:236818008	Globozoospermia	germline	3	173019486	GATGTCTGGAGAGGTATTCAGAGGCTGCCCGGTATGTTTGTTTTAACTTTTGTGAGGATTT
104894809	25467	NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)	GATA1	Apr 17, 2014	MedGen:C1839161,OMIM:314050,Orphanet:ORPHA231393	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis	germline	X	48792371	ACTGCGGAGCAACAGCCACTCCACTGTGGCGGAGGGACAGGACAGGCCACTACCTATGCAA
397514913	75818	NM_000548.4(TSC2):c.2688G>A (p.Trp896Ter)	TSC2	Feb 08, 2016	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2076116	GTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAG
886044326	274231	NM_022455.4(NSD1):c.6152-1G>A	NSD1	Aug 22, 2016	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177288818	GATATTAATATTTTCACGGTCTCTTATGCAGGCACTGAACTTACCTTCAACTACAACCTAG
886042442	266872	NM_213599.2(ANO5):c.2235+1G>A	ANO5	Sep 16, 2015	MedGen:C2750076,OMIM:613319,Orphanet:ORPHA399096	Miyoshi muscular dystrophy 3	germline	11	22272990	GGAATGGCTGTCCTTTCTGTTGCAACTAATGTAAGTGGACCTATTTCGGTGGGGTGACTTT
121918258	16927	NM_000255.3(MUT):c.643G>A (p.Gly215Ser)	MUT	Jan 07, 2016	MedGen:C1855115;MedGen:C1855114,OMIM:251000	METHYLMALONIC ACIDURIA, mut(0) TYPE;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49457801	GAACAAGGTGTACCTAAAGAGAAGCTTACTGGTACCATCCAAAATGATATACTAAAGGAAT
372966991	192190	NM_000169.2(GLA):c.335G>A (p.Arg112His)	GLA	Aug 02, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101403845	CAGAAGGCAGACTTCAGGCAGACCCTCAGCGCTTTCCTCATGGGATTCGCCAGCTAGCTAA
1064796836	411071	NM_000061.2(BTK):c.1185G>A (p.Trp395Ter)	BTK	Mar 06, 2017	MedGen:CN517202	not provided	germline	X	101356948	TCACACCAAGACTTTATTGTTAGGATCATGGGAAATTGATCCAAAGGACCTGACCTTCTTG
180177312	200630	NM_012203.1(GRHPR):c.478G>A (p.Gly160Arg)	GRHPR	Nov 27, 2014	MedGen:C0268165,OMIM:260000,Orphanet:ORPHA93599,SNOMED CT:40951006	Primary hyperoxaluria, type II	germline	9	37428557	GGACTCACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCCCACCG
786205910	190116	NM_017649.4(CNNM2):c.1069G>A (p.Glu357Lys)	CNNM2	Apr 01, 2014	MedGen:C4225333,OMIM:616418	Hypomagnesemia, seizures, and mental retardation	germline	10	102919549	GTCTCCACCATCGGTATCGTCATCTTCGGAGAGATCGTGCCCCAGGCCATCTGCTCCCGGC
727503430	174032	NM_000441.1(SLC26A4):c.2089+1G>A	SLC26A4	May 03, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN517202	Enlarged vestibular aqueduct;Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome;not provided	germline;unknown	7	107704386	ATGTGAATGTGTATTTTGCATCACTTCAAGGTAAATACATATATCTACATATCTACCTGTA
121908039	18778	NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr)	LDLR	Jun 08, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841	Familial hypercholesterolemia;Familial hypercholesterolemias	germline	19	11105457	AAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAG
879254418	245393	NM_000527.4(LDLR):c.155G>A (p.Cys52Tyr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100310	ACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGAC
774795340	432290	NM_005630.2(SLCO2A1):c.664G>A (p.Gly222Arg)	SLCO2A1	Apr 20, 2017	MedGen:C3280800,OMIM:614441	Primary hypertrophic osteoarthropathy, autosomal recessive 2	germline	3	133953723	TTTGCCATCTCTGTATTTGGACCGGCTTTCGGGTACCTGCTGGGCTCTGTCATGCTGCAGA
-1	446837	NM_004218.3(RAB11B):c.202G>A (p.Ala68Thr)	RAB11B	Dec 15, 2017	MedGen:CN698604,OMIM:617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	germline	19	8400024	AAGACCATCAAGGCGCAGATCTGGGACACCGCTGGCCAGGAGCGCTACCGCGCCATCACCT
587776587	19275	NM_031889.2(ENAM):c.534+1G>A	ENAM	Jan 01, 2012	MedGen:C0399368,OMIM:104500,SNOMED CT:234961008	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	germline	4	70635895	TATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAG
397515907	51711	NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	MYBPC3	Aug 14, 2017	MedGen:CN230736;MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47342697	AGCTGACCCGGGAGGAGACCTTCAAATACCGGTTCAAGAAGGACGGGCAGAGACACCACCT
376048533	187227	NM_022168.3(IFIH1):c.2465G>A (p.Arg822Gln)	IFIH1	Jun 11, 2015	MedGen:C4225427,OMIM:182250;MedGen:CN517202	Singleton-Merten syndrome 1;not provided	germline	2	162272377	TGATTTATTTGTGTTTTCAGGCCCGTGGTCGAGCCAGAGCTGATGAGAGCACCTACGTCCT
762374961	358302	NM_000520.5(HEXA):c.1421G>A (p.Trp474Ter)	HEXA	Jul 19, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline;unknown	15	72346235	TGGACAACACAAACCTGGTCCCCAGGCTCTGGTAAGGGTTTTCGGGGGGGAGGTGGAGGGT
137852414	25256	NM_000132.3(F8):c.1492G>A (p.Gly498Arg)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154961120	GCAAGCAGACCATATAACATCTACCCTCACGGAATCACTGATGTCCGTCCTTTGTATTCAA
80315385	32672	NM_000719.6(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Feb 24, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283;MedGen:CN517202	Congenital long QT syndrome;Timothy syndrome;not provided	germline	12	2504932	GGGTCATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACCAAGGA
863223648	210342	NM_000214.2(JAG1):c.439+1G>A	JAG1	May 12, 2015	MedGen:CN517202	not provided	germline	20	10663962	AGGCGTGGGATTCCAGTAATGACACCGTTCGTAAGTATCGCTTCTGTGGACTTTTCTCTAA
863224030	210949	NM_024996.5(GFM1):c.3G>A (p.Met1Ile)	GFM1	Aug 12, 2013	MedGen:CN517202	not provided	germline	3	158644637	GGACTTTGACGCGTGCTCTGCGCTTGCCATGAGACTCCTGGGAGCTGCAGCCGTCGCGGCT
121912595	17463	NM_001875.4(CPS1):c.2945G>A (p.Gly982Asp)	CPS1	Jan 01, 2007	MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED CT:62522004	Congenital hyperammonemia, type I	germline	2	210640045	ATGACCATGGAATGATGGTGCTAGGCTGTGGTCCATATCACATTGGTAAAATAATAAATTA
281865136	49429	NM_000399.4(EGR2):c.1076G>A (p.Arg359Gln)	EGR2	Oct 18, 2012	MedGen:C1843247,OMIM:607678,Orphanet:ORPHA101084	Charcot-Marie-Tooth disease, demyelinating, type 1d	not provided	10	62813562	GGCGGTTCTCCCGCTCTGACGAGCTGACACGGCACATCCGAATCCACACTGGGCATAAGCC
587779526	106971	NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003019	GAGGGGCTCCGGGTGAGAAAGGTGAAGGAGGCCCTCCTGGAGTTGCAGGACCCCCTGGAGG
146973734	39550	NM_020634.2(GDF3):c.584G>A (p.Arg195Gln)	GDF3	Jan 15, 2010	MedGen:C3150969,OMIM:613704	Microphthalmia, isolated 7	germline	12	7690389	ATGTAGCTAAGGATTGGAATGACAACCCCCGGAAAAATTTCGGGTTATTCCTGGAGATACT
118192234	34619	NM_172107.3(KCNQ2):c.1658G>A (p.Arg553Gln)	KCNQ2	Feb 02, 2017	MedGen:C1852587,OMIM:121200;MedGen:CN517202	Benign familial neonatal seizures 1;not provided	germline	20	63413555	GCAGTGTCATGCGGTTCCTGGTGTCCAAGCGGAAGTTCAAGGAGAGCCTGCGGCCCTACGA
1800553	22927	NM_000350.2(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4	May 05, 2017	MedGen:CN239167;MedGen:C1858806,OMIM:604116;na;Human Phenotype Ontology:HP:0007754,MedGen:C0730292;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MeSH:C535804,MedGen:C1855465,OMIM:248200;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	ABCA4-Related Disorders;Cone-rod dystrophy 3;MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;Macular dystrophy;Retinal dystrophy;Stargardt disease 1;Stargardt disease 1;not provided	germline;unknown	1	94008251	CCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCA
397514417	36416	NM_000060.4(BTD):c.1333G>A (p.Gly445Arg)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645189	AAAGAGCTGTATGCCCTGGGGGTCTTTGATGGGCTTCACACAGTACATGGCACTTACTACA
1064794295	407690	NM_000155.3(GALT):c.899G>A (p.Trp300Ter)	GALT	Feb 20, 2017	MedGen:CN517202	not provided	germline	9	34649076	TTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATT
119463992	18247	NM_001079802.1(FKTN):c.920G>A (p.Arg307Gln)	FKTN	May 26, 2009	MedGen:C2751052,OMIM:613152;MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4;Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	germline	9	105617968	AAAATTTAATCTTCTTTTTAGGATGGTATCGACAATGCAACATTATTCCTTATAGCAAAGA
121908593	28511	NM_002234.3(KCNA5):c.1828G>A (p.Glu610Lys)	KCNA5	May 01, 2009	MedGen:C2677106,OMIM:612240	Atrial fibrillation, familial, 7	germline	12	5045975	CTTTATGCCCTCTGCCTGGACACCAGCCGGGAAACAGATTTGTGAAAGGAGATTCAGGCAG
137853147	20542	NM_014244.4(ADAMTS2):c.2384G>A (p.Trp795Ter)	ADAMTS2	Oct 18, 2016	MedGen:C2700425,OMIM:225410,Orphanet:ORPHA1901,SNOMED CT:55711009	Ehlers-Danlos syndrome, type vii, autosomal recessive	germline;unknown	5	179130005	CCAAAACCTTCATTGCCATGGGCGTGGAGTGGGAGTACAGAGACGAGGACGGCCGGGAGAC
387907125	40129	NM_145239.2(PRRT2):c.950G>A (p.Ser317Asn)	PRRT2	Jan 13, 2012	MedGen:C1865926,OMIM:602066,Orphanet:ORPHA31709	Infantile convulsions and paroxysmal choreoathetosis, familial	germline	16	29814403	AGCGTCTGGGCCGGGTAGCCAAGCTCTTAAGCATCGTGGCGCTGGTGGGGGGAGTCCTCAT
121907992	18888	NM_000053.3(ATP7B):c.3796G>A (p.Gly1266Arg)	ATP7B	Apr 20, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51937583	CAGAATAAAGGGAAGAAAGTCGCCATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGG
121434524	20741	NM_005977.3(RNF6):c.731G>A (p.Gly244Asp)	RNF6	Aug 01, 2002	MedGen:C4016881	Esophageal squamous cell carcinoma, somatic	somatic	13	26215151	GGTTAAGAAATGGAATTGGGGGAGCAGCTGGCATTCCTCGAGCTAACGCTTCACGCACTAA
587777285	132030	NM_012338.3(TSPAN12):c.285+1G>A	TSPAN12	May 14, 2012	MedGen:C2750079,OMIM:613310	Exudative vitreoretinopathy 5	germline	7	120838776	GTGAAAAGAAATCTGTTGCTTCTTGCATGGGTATGATGTTATATTTTCTCTTTATTATAGT
114025668	17006	NM_000022.3(ADA):c.643G>A (p.Ala215Thr)	ADA	Aug 01, 1990	MedGen:C1863239;MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Partial adenosine deaminase deficiency;Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44623042	GTGAAGAGCGGCATTCACCGTACTGTCCACGCCGGGGAGGTGGGCTCGGCCGAAGTAGTAA
886041326	264386	NM_000118.3(ENG):c.816G>A (p.Trp272Ter)	ENG	Sep 29, 2016	MedGen:CN517202	not provided	germline	9	127825231	CATCGACGCCAACCACAACATGCAGATCTGGGTGAGTTGTGCGCAGCTCCCGGGACACAAA
549330397	269242	NM_139125.3(MASP1):c.1779G>A (p.Trp593Ter)	MASP1	Nov 25, 2015	MedGen:C0796059,OMIM:257920	Michels syndrome	germline	3	187236092	CCCCCACATGCTGGGCCTGGTGGCCGGCTGGGGCATCTCCAATCCCAATGTGACAGTGGAT
774730452	246486	NM_000527.4(LDLR):c.2050G>A (p.Ala684Thr)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120432	AATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGT
121912583	15602	NM_018344.5(SLC29A3):c.1279G>A (p.Gly427Ser)	SLC29A3	Jun 14, 2016	MedGen:C1864445,OMIM:602782,Orphanet:ORPHA168569	Histiocytosis-lymphadenopathy plus syndrome	germline	10	71362459	CTCCTCAGCTCCCTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACG
863225305	214560	NM_001134771.1(SLC12A5):c.1652G>A (p.Gly551Asp)	SLC12A5	Sep 03, 2015	MedGen:C4225257,OMIM:616645	Early infantile epileptic encephalopathy 34	germline	20	46045891	GATTGCTCTTTCCCCAGGTCTTTGGCCATGGCAAGGCCAATGGAGAGCCGACCTGGGCCCT
28940882	18716	NM_000403.3(GALE):c.269G>A (p.Gly90Glu)	GALE	Jan 25, 2011	MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004	UDPglucose-4-epimerase deficiency	germline	1	23798199	ACAGCTTTATGGCGGTCATCCACTTTGCGGGGCTCAAGGCCGTGGGCGAGTCGGTGCAGAA
201954387	377918	NM_174917.4(ACSF3):c.1608G>A (p.Trp536Ter)	ACSF3	Jun 02, 2015	MedGen:CN517202	not provided	germline	16	89146044	CTCACTGTCCCACAGGGAGCTCAAAGAGTGGGCCAGGTAGGGCTGGGTGGGGCGGGCAGGG
409652	99364	NM_001005741.2(GBA):c.721G>A (p.Gly241Arg)	GBA	May 08, 2017	MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher disease;Gaucher's disease, type 1	germline	1	155238174	AATGGGAAGGGGTCACTCAAGGGACAGCCCGGAGACATCTACCACCAGACCTGGGCCAGAT
104893896	32002	NM_002449.4(MSX2):c.515G>A (p.Arg172His)	MSX2	Apr 01, 2000	MedGen:C1868599,OMIM:168500	Parietal foramina 1	germline	5	174729294	GTCAGAAACAGTACCTCTCCATTGCAGAGCGTGCAGAGTTCTCCAGCTCTCTGAACCTCAC
587783673	168868	NM_000525.3(KCNJ11):c.685G>A (p.Glu229Lys)	KCNJ11	Apr 28, 2014	Human Phenotype Ontology:HP:0000819,MedGen:C0011849,SNOMED CT:73211009	Diabetes mellitus	germline	11	17387407	GTGGTACGCAAGACCACCAGCCCCGAGGGCGAGGTGGTGCCCCTCCACCAGGTGGACATCC
3902401	426779	NM_001171.5(ABCC6):c.*17G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150116	CAGGCCTGGTCTGAGCCAGGACCCTCAACCGTACCCCAGTTGGACCAGCCCGCACAGCCTG
118192125	76890	NM_000540.2(RYR1):c.8816G>A (p.Arg2939Lys)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38506952	TCCTGCAGATGAATGGCTACGCGGTTACAAGGCACGCGGGTTGGGGCTCCCGCGGAAGAGC
398122958	94618	NM_006254.3(PRKCD):c.1352+1G>A	PRKCD	Dec 09, 2013	MedGen:C3809928,OMIM:615559	Autoimmune lymphoproliferative syndrome, type III	germline	3	53186696	CAAAGGCCGCTTTGAACTCTACCGTGCCACGTACGTAAGGGCCATGGTGGGGAAGGGCCCA
-1	437732	NM_000475.4(NR0B1):c.515G>A (p.Trp172Ter)	NR0B1	Oct 05, 2017	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	maternal	X	30308849	CGCCCGAGGCACGGCCAGGGGGCGCGTGGTGGGACCGCTCCTACTTCGCGCAGAGGCCAGG
587777794	166222	NM_006218.3(PIK3CA):c.1145G>A (p.Arg382Lys)	PIK3CA	Jan 10, 2013	MedGen:C3554518,OMIM:615108	Cowden syndrome 5	germline	3	179204588	ACACTCAAAGAGTACCTTGTTCCAATCCCAGGTAAGGAAGTATATAGATTTATATTTCCAA
886039246	259333	NM_001242896.1(DEPDC5):c.279+1G>A	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31765061	GATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTT
398123219	98471	NM_000169.2(GLA):c.677G>A (p.Trp226Ter)	GLA	Dec 08, 2015	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398909	ATACAGAAATCCGACAGTACTGCAATCACTGGCGAAATTTTGCTGACATTGATGATTCCTG
-1	463112	NM_003482.3(KMT2D):c.16052G>A (p.Arg5351Gln)	KMT2D	Jun 29, 2017	MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:313426007	Kabuki syndrome	germline	12	49024578	CAGAGCCTAAAATCCTCACACACTACAAACGGTGAGCTTGTGATGCTGGAGCCAAGGGATG
886039106	258303	NM_003242.5(TGFBR2):c.1178G>A (p.Cys393Tyr)	TGFBR2	Jul 06, 2017	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	3	30672361	CCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCG
869312034	32243	NM_000090.3(COL3A1):c.3093+1G>A	COL3A1	Jul 15, 1990	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006260	CCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTG
137852931	19077	NM_021978.3(ST14):c.2479G>A (p.Gly827Arg)	ST14	Mar 01, 2007	MedGen:C1865595,OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	germline	11	130209734	CGGATCTTCCAGGCCGGTGTGGTGAGCTGGGGAGACGGCTGCGCTCAGAGGAACAAGCCAG
104895311	103489	NM_000431.3(MVK):c.564G>A (p.Trp188Ter)	MVK	Mar 07, 2016	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002	Hyperimmunoglobulin D with periodic fever	germline	12	109586058	CAAGGAGGATTTGGAGCTAATTAACAAGTGGGCCTTCCAAGGGGAGAGAATGATTCACGGG
28934872	27436	NM_000548.4(TSC2):c.1832G>A (p.Arg611Gln)	TSC2	Apr 16, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0751674,OMIM:606690,Orphanet:ORPHA538,SNOMED CT:73017001;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline;somatic	16	2070571	GCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAG
730882174	181520	NM_002238.3(KCNH1):c.1042G>A (p.Gly348Arg)	KCNH1	Jun 01, 2015	Gene:353173,MedGen:CN032818,OMIM:135500	Zimmermann-Laband syndrome 1	de novo;germline	1	210919979	GCCCGTAAGCTGGACCACTACATTGAATATGGAGCTGCTGTGCTGGTCCTGCTGGTGTGTG
879253829	224649	NM_000255.3(MUT):c.415G>A (p.Asp139Asn)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49458029	GCTGGTCAGCAGGGATTATCAGTTGCCTTTGATCTGGCGACACATCGTGGCTATGATTCAG
864622777	222901	NM_000202.7(IDS):c.1181-1G>A	IDS	Dec 05, 2011	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149483219	ACCCATTCTGCTCTGTCGCTTCCTGTTTCAGGCAGGCAATCCATGGACCTTGTGGAACTTG
587777516	143248	NM_004771.3(MMP20):c.102G>A (p.Trp34Ter)	MMP20	Jan 01, 2008	MedGen:C2675858,OMIM:612529	Amelogenesis imperfecta, hypomaturation type, IIA2	germline	11	102625218	CTCCCTAGTTGCAGCCTCCCCCAGGACCTGGAGGAACAACTACCGCCTCGCACAGGTTTGT
876657388	188151	NM_001957.3(EDNRA):c.907G>A (p.Glu303Lys)	EDNRA	Apr 02, 2015	MedGen:C4225349,OMIM:616367,Orphanet:ORPHA443995	Mandibulofacial dysostosis with alopecia	unknown	4	147539823	TATTTTTTTCTCACTTTCCTTTAGCGTCGAGAAGTGGCAAAAACAGTTTTCTGCTTGGTTG
753594601	247521	NM_007255.2(B4GALT7):c.641G>A (p.Cys214Tyr)	B4GALT7	Dec 22, 2017	MedGen:C1869122,OMIM:130070,Orphanet:ORPHA75496	Ehlers-Danlos syndrome progeroid type	germline	5	177608540	CCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTG
869312029	16160	NM_017875.3(SLC25A38):c.277-1G>A	SLC25A38	Jun 01, 2009	MedGen:C2673914,OMIM:205950,Orphanet:ORPHA255132	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive	germline	3	39391440	GATTTTCTTTTCTCCCTGACCTTCTCTGCAGTCCATTGTGAGATGTGTCCCTGGCGTTGGA
121909132	22631	NM_000085.4(CLCNKB):c.610G>A (p.Ala204Thr)	CLCNKB	Oct 01, 1997	MedGen:C1846343,OMIM:607364,Orphanet:ORPHA93605	Bartter syndrome type 3	germline	1	16048537	AAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTG
587779511	106955	NM_000090.3(COL3A1):c.2888G>A (p.Gly963Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004321	CTGGAGCACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCC
111033670	36482	NM_000155.3(GALT):c.292G>A (p.Asp98Asn)	GALT	Aug 06, 2014	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34647531	CAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCA
199474701	24611	m.15967G>A	MT-TP	Jan 29, 2015	MedGen:CN069287;MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	MERFF syndrome;Myoclonus with epilepsy with ragged red fibers	germline	MT	15967	ACCTTTTTCCAAGGACAAATCAGAGAAAAAGTCTTTAACTCCACCATTAGCACCCAAAGCT
863223341	189156	NM_001257965.1(CRB1):c.2711G>A (p.Cys904Tyr)	CRB1	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	germline	1	197429555	GTGGGAAAGCCTGTGAGGAGGTTCAGTGGTGTGGATTCAGCCCGTGTCCTCACGGAGCCCA
769284314	240611	NM_012144.3(DNAI1):c.1307G>A (p.Trp436Ter)	DNAI1	Feb 23, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	9	34506870	CCAAGTCTGGCAAGCACTCAGACCCTGTGTGGCAGGTCAGCAACCAGGCTGGGAGGGGTGG
45517252	203150	NM_000548.4(TSC2):c.2639+1G>A	TSC2	Dec 06, 2013	MedGen:CN517202	not provided	germline	16	2075893	CATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCC
587776641	21770	NM_003165.3(STXBP1):c.169+1G>A	STXBP1	Jun 01, 2009	MedGen:C2677326,OMIM:612164	Early infantile epileptic encephalopathy 4	germline	9	127653797	TGACAGACATCATGACCGAGGGCATAACGAGTGAGCATGCGCTCTGCACTTGAGCAGTGCT
52836744	29738	NM_000208.3(INSR):c.172G>A (p.Gly58Arg)	INSR	Jan 05, 1992	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7267825	CATGAGCTGGAGAATTGCTCTGTCATCGAAGGACACTTGCAGATACTCTTGATGTTCAAAA
104894590	16599	NM_000263.3(NAGLU):c.2021G>A (p.Arg674His)	NAGLU	Nov 12, 2013	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-B;not provided	germline	17	42544027	CGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAGGCGCTGGTTGA
769765227	421583	NM_000434.3(NEU1):c.679G>A (p.Gly227Arg)	NEU1	Jul 31, 2017	MedGen:CN203634,Orphanet:ORPHA309294;MedGen:CN517202	Sialidosis;not provided	germline	6	31860558	GTGTGTGGCCATGGGACGCTGGAGCGGGACGGAGTCTTCTGTCTCCTCAGCGATGATCATG
-1	446643	NM_000531.5(OTC):c.540+265G>A	OTC	Dec 20, 2016	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline	X	38401693	CTTATGTTCTGTCAATCCCTTTGATTTTTCGGTGCCATATTTAACACAATGAATGAATAGA
794726827	194348	NM_001165963.1(SCN1A):c.602+1G>A	SCN1A	Jun 07, 2017	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy;not provided	germline	2	166054637	CTGGCTCGATTTCACTGTCATTACATTTGCGTAAGTGCCTTTTTTGAAACTTTAAGAGAGA
758452450	224719	NM_000203.4(IDUA):c.223G>A (p.Ala75Thr)	IDUA	Feb 11, 2016	MedGen:C0023786,Orphanet:ORPHA579	Mucopolysaccharidosis type I	germline	4	987873	GTCCTCAGCTGGGACCAGCAGCTCAACCTCGCCTATGTGGGCGCCGTCCCTCACCGCGGCA
-1	485853	NM_000044.4(AR):c.2593G>A (p.Asp865Asn)	AR	Apr 21, 2009	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67722970	AGACGCTTCTACCAGCTCACCAAGCTCCTGGACTCCGTGCAGCCTGTAAGCAAACGATGGA
387907225	44202	NM_000076.2(CDKN1C):c.820G>A (p.Asp274Asn)	CDKN1C	Feb 05, 2013	MedGen:C1846009,OMIM:614732,Orphanet:ORPHA85173	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	germline	11	2884670	ATCAAGAAGCTGTCCGGGCCTCTGATCTCCGGTGAGCCCCGCACGGCCCCGCCCCGGCCCG
1131692250	424402	NM_015512.4(DNAH1):c.8626-1G>A	DNAH1	Jul 20, 2017	MedGen:CN337166,OMIM:617576	SPERMATOGENIC FAILURE 18	germline	3	52386159	GGGAGGACATCCCTATGTCTCCCATCCCCAGGTGGATACGGCCATCGCCGAGGAGACCCGG
797044829	204297	NM_020533.2(MCOLN1):c.1388G>A (p.Cys463Tyr)	MCOLN1	Jul 30, 2015	MedGen:C0238286,OMIM:252650,Orphanet:ORPHA578,SNOMED CT:111384001	Mucolipidosis type IV	germline	19	7530314	AGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACAT
730880546	179292	NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)	MYBPC3	Dec 05, 2014	MedGen:CN517202	not provided	germline	11	47342050	GGTCTCAGATGAGAATGTTCGGGGTGTGTGGCTGAAGAATGGGAAGGAGCTGGTGCCCGAC
772727116	203596	NM_007254.3(PNKP):c.992G>A (p.Trp331Ter)	PNKP	May 09, 2013	MedGen:CN517202	not provided	germline	19	49862408	TCGCCACGCCTGAGGAGTTCTTTCTCAAGTGGCCAGCAGCCGGCTTCGAGCTCCCAGCCTT
121913623	29184	NM_002470.3(MYH3):c.700G>A (p.Ala234Thr)	MYH3	May 10, 2017	MedGen:C1834523,OMIM:601680,Orphanet:ORPHA1147;MedGen:CN517202	Distal arthrogryposis type 2B;not provided	germline	17	10648592	GCCAATCCCCTGCTGGAGGCCTTTGGGAACGCCAAGACTGTGAGGAATGACAACTCCTCCC
17174393	132920	NM_000051.3(ATM):c.8786+1G>A	ATM	Oct 27, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108353881	CATTACGGGTGTTGAAGGTGTCTTCAGAAGGTAAGTGATATGAAGTAAAGGAGGGAAATAA
368352689	214776	NM_001101.4(ACTB):c.1090G>A (p.Glu364Lys)	ACTB	Sep 17, 2015	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995	Baraitser-Winter syndrome 1	germline	7	5527786	CAGATGTGGATCAGCAAGCAGGAGTATGACGAGTCCGGCCCCTCCATCGTCCACCGCAAAT
864622778	222908	NM_000202.7(IDS):c.708+1G>A	IDS	Dec 07, 2011	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149498106	AAGCCACACATCCCCTTCAGATACCCCAAGGTGAAGAGCTGGTTGAGGGCTGATCCAGCAC
587777610	153587	NM_198282.3(TMEM173):c.463G>A (p.Val155Met)	TMEM173	Aug 13, 2015	MedGen:C4014722,OMIM:615934,Orphanet:ORPHA425120;MedGen:CN517202	Sting-associated vasculopathy, infantile-onset;not provided	germline	5	139480847	TCTGCAGTGTGTGAAAAAGGGAATTTCAACGTGGCCCATGGGCTGGCATGGTCATATTACA
118192190	34663	NM_172107.3(KCNQ2):c.296+1G>A	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63472167	CGGCTGGGCGTTCATCTACCACGCCTACGTGTGAGTGGCCGGCGGGGCCCCCGTGGCGACC
143010236	76499	NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	TTPA	Jun 27, 2013	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96	Ataxia with vitamin E deficiency	not provided	8	63072935	ACTGGCAGCAAAGTTCTTATTTACAGAATCGGTAAGTCATACACAACTCTTTTTTTTTTCT
113993946	25537	NM_000202.7(IDS):c.1403G>A (p.Arg468Gln)	IDS	Sep 25, 2013	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009;MedGen:C0026705,OMIM:309900,SNOMED CT:70737009;MedGen:C0342841	Mucopolysaccharidosis, MPS-II;Mucopolysaccharidosis, MPS-II;Mucopolysaccharidosis, type II, severe form	de novo;germline;maternal;unknown	X	149482996	GTGAACTGATTGCCTATAGCCAGTATCCCCGGCCTTCAGACATCCCTCAGTGGAATTCTGA
118192228	34615	NM_172107.3(KCNQ2):c.1525+1G>A	KCNQ2	Jan 17, 2017	MedGen:C1852587,OMIM:121200;MedGen:C0393706,Orphanet:ORPHA1934	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy	germline	20	63414902	AGGGTGCCGCGTCACGGCAGAACTCAGAAGGTGGGTGTGGCCGCATCCTCTCCTGGTCCAT
121912819	32549	NM_020549.4(CHAT):c.1679G>A (p.Arg560His)	CHAT	Feb 13, 2001	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49655139	TGGTGCCCACCTACGAGAGCGCGTCCATCCGCCGATTCCAGGAGGGACGCGTGGACAACAT
111377893	52842	NM_000364.3(TNNT2):c.842+1G>A	TNNT2	Dec 22, 2014	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Primary familial hypertrophic cardiomyopathy	germline	1	201359622	CCGAAACAGGATCAACGATAACCAGAAAGTGTAAGTGTCTGAGGTCATTCTCGCCTAGCCC
763220502	170948	NM_030777.3(SLC2A10):c.1309G>A (p.Glu437Lys)	SLC2A10	Sep 10, 2014	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342	Arterial tortuosity syndrome	germline	20	46726884	CCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAG
104894286	28188	NM_000448.2(RAG1):c.2210G>A (p.Arg737His)	RAG1	May 08, 2008	MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949;MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006	Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis	germline	11	36575514	TCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCA
794729222	198630	NM_152743.3(BRAT1):c.1857G>A (p.Trp619Ter)	BRAT1	Dec 02, 2013	MedGen:C3281029,OMIM:614498,Orphanet:ORPHA435845	Rigidity and multifocal seizure syndrome, lethal neonatal	germline	7	2538678	GCGGGCGGTCATGCAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCCGACGCGGCCCAG
281865119	47015	NM_014363.5(SACS):c.10907G>A (p.Arg3636Gln)	SACS	Oct 11, 2012	MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98	Spastic ataxia Charlevoix-Saguenay type	not provided	13	23332969	ATATCCTTCTGCATCATATATTCCAAGAACGAATGGATTTGTTATCTGGAAATTTTCTGAA
886042766	268243	NM_206933.2(USH2A):c.9390G>A (p.Trp3130Ter)	USH2A	Oct 27, 2015	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215817177	TCTCTGTTGCAGATCTCTTCAAATTGATTGGGTGTCTCCACGGAAGCCAAATGGCATCATT
137853866	40504	NM_000942.4(PPIB):c.313G>A (p.Gly105Arg)	PPIB	Dec 07, 2015	MedGen:C1850169,OMIM:259440;MedGen:CN517202	Osteogenesis imperfecta type 9;not provided	germline;unknown	15	64160134	CGTGTAATCAAGGACTTCATGATCCAGGGCGGAGACTTCACCAGGGGAGATGGCACAGGAG
80356751	34351	NM_012463.3(ATP6V0A2):c.294+1G>A	ATP6V0A2	Sep 23, 2010	MedGen:C0268355,OMIM:219200,Orphanet:ORPHA357058,SNOMED CT:73856006	Cutis laxa with osteodystrophy	not provided	12	123722449	CCACCCCTGAAACAGGTTCTAGAAATGCAGGTAACTTGCTTCTGACGAAGCTGGTTGCAGC
104893964	32024	NM_000165.4(GJA1):c.65G>A (p.Gly22Glu)	GJA1	Feb 01, 2003	MedGen:C0812437,OMIM:164200	Oculodentodigital dysplasia	germline	6	121446912	ACAAGGTTCAAGCCTACTCAACTGCTGGAGGGAAGGTGTGGCTGTCAGTACTTTTCATTTT
119462987	18289	NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr)	POMT1	Dec 08, 2016	MedGen:C3150415,OMIM:613155;MedGen:C1836373,OMIM:609308,Orphanet:ORPHA86812;MedGen:CN033898,OMIM:236670;MedGen:CN517202	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;not provided	germline	9	131522160	AAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTG
104894378	23032	NM_000192.3(TBX5):c.710G>A (p.Arg237Gln)	TBX5	Nov 07, 2017	MedGen:C3542024,OMIM:614823;MedGen:C0265264,OMIM:142900,SNOMED CT:19092004;MedGen:CN517202	Aortic valve disease 2;Holt-Oram syndrome;not provided	germline	12	114385521	TTGAGAATAATCCCTTTGCCAAAGGATTTCGGGGCAGTGATGACATGGAGCTGCACAGAAT
1057520664	368310	NM_003722.4(TP63):c.935G>A (p.Cys312Tyr)	TP63	Apr 28, 2015	MedGen:CN517202	not provided	germline	3	189867885	TCTTGTACAATTTCATGTGTAACAGCAGTTGTGTTGGAGGGATGAACCGCCGTCCAATTTT
398122805	38851	NM_003000.2(SDHB):c.423+1G>A	SDHB	Jul 24, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;MedGen:CN517202;MedGen:CN169374	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;not provided;not specified	germline	1	17028599	CACATGTATGTGATAAAGGATCTTGTTCCCGTGAGTTTCTGCATCTCTCTGGTTTTGTTTT
199497486	259807	NM_001182.4(ALDH7A1):c.312+1G>A	ALDH7A1	Feb 09, 2016	MedGen:CN517202	not provided	germline	5	126592663	GCAAGAGAAGCATGGAAAATCTGGGCAGATGTAAGTATGGCCTTTGTTTCTAGAATTCAGA
2069566	27739	NM_003235.4(TG):c.6725G>A (p.Arg2242His)	TG	Aug 01, 2003	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	Iodotyrosyl coupling defect	germline	8	133017940	CATATGCTGCCCCGCCCCTGGCAGAGAGGCGCTTCCAGGCACCAGAGCCCTTGAACTGGAC
397508058	67521	NM_000059.3(BRCA2):c.9501+1G>A	BRCA2	Nov 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Breast-ovarian cancer, familial 2;Familial cancer of breast	germline	13	32394934	ACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATT
770269674	207707	NM_003383.4(VLDLR):c.83-1G>A	VLDLR	Nov 11, 2014	MedGen:CN233038	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	germline	9	2635452	TGCTTTACCGAATGTTCCCTTCTTATTCTAGGGAGAAAAGCCAAATGTGAACCCTCCCAAT
111984349	258823	NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)	FBN1	May 07, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection	germline	15	48415759	CCGCTTCTTATTTTGCCTGCAGATGAAAACGAATGCCTCAGCGCTCACATCTGCGGAGGAG
121909181	23050	NM_001089.2(ABCA3):c.3426G>A (p.Trp1142Ter)	ABCA3	Mar 25, 2004	MedGen:C1970456,OMIM:610921,Orphanet:ORPHA440402	Surfactant metabolism dysfunction, pulmonary, 3	germline	16	2285499	TGTGAGTGGAGTCCACGTGGCCAGTTTCTGGCTCTCTGCTCTGCTGTGGGACCTCATCTCC
80338876	34229	NM_003227.3(TFR2):c.64G>A (p.Val22Ile)	TFR2	Jun 09, 2011	MedGen:C1858664,OMIM:604250,Orphanet:ORPHA225123	Hemochromatosis type 3	not provided	7	100641198	CAACAACTGTCCCCAAGATCCTCTCAGACCGTCTACCAGCGTGTGGAAGGCCCCCGGAAAG
121434562	31813	NM_003286.3(TOP1):c.1252G>A (p.Glu418Lys)	TOP1	Jul 01, 2002	MedGen:C4016020	DNA topoisomerase I, camptothecin-resistant	germline	20	41101297	AACAAGGTTACTTGGCTGGTTTCCTGGACAGAGAACATCCAAGGTTCCATTAAATACATCA
1064796877	407118	NM_152743.3(BRAT1):c.1771-1G>A	BRAT1	Mar 16, 2017	MedGen:CN517202	not provided	germline	7	2538765	CAACCATCCGCACTTGCTCCCTGTCCCCCAGAGCCTGTTCCTGGAGCTCCTGCACATCCTC
796053115	201335	NM_021007.2(SCN2A):c.2635G>A (p.Gly879Arg)	SCN2A	Dec 11, 2017	MedGen:C3150987,OMIM:613721	Early infantile epileptic encephalopathy 11	de novo	2	165344627	ATGCTAATTAAGATCATTGGCAATTCTGTGGGGGCTCTAGGAAACCTCACCTTGGTATTGG
796051960	200080	NM_004453.3(ETFDH):c.1809G>A (p.Trp603Ter)	ETFDH	May 06, 2014	MedGen:CN517202	not provided	germline	4	158708482	TATTAAAGATCCAAGTCAGAATATTAACTGGGTGGTACCTGAAGGTGGAGGAGGACCTGCT
904122716	360147	NM_000359.2(TGM1):c.1417G>A (p.Gly473Ser)	TGM1	Aug 11, 2015	MedGen:CN517202	not provided	germline	14	24256063	CCGCCTCACTCTCTAGGCATCTTCTGCTGCGGCCCCTGCTCTGTGGAGTCCATCAAGAATG
56816490	57257	NM_170707.3(LMNA):c.949G>A (p.Glu317Lys)	LMNA	Jan 23, 2017	MedGen:CN043576;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Primary dilated cardiomyopathy;not provided	germline	1	156135913	CCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCAC
-1	433256	NM_000267.3(NF1):c.4514+1G>A	NF1	Aug 09, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202;MedGen:CN169374	Neurofibromatosis, type 1;not provided;not specified	germline	17	31260516	GAAAATTGGGCAGTATCTTTCCAGCAACAGGTAAGATTTCCCAGTCATGGGGATAGTGAAC
762798018	432468	NM_018116.3(MSTO1):c.22G>A (p.Val8Met)	MSTO1	Sep 22, 2017	MedGen:CN484737,OMIM:617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	germline	1	155610270	CAGCGCAGTATGGCGGGCGGGGCCCGGGAGGTGCTCACACTGCAGTTGGGACATTTTGCCG
886041083	263780	NM_000207.2(INS):c.187+241G>A	INS	Nov 14, 2016	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	germline	11	2160544	TTCGGCAGCCCCGAGATACATCAGAGGGTGGGCACGCTCCTCCCTCCACTCGCCCCTCAAA
886037898	248621	NM_015650.3(TRAF3IP1):c.373G>A (p.Val125Met)	TRAF3IP1	Sep 06, 2016	MedGen:C4225263,OMIM:616629	Senior-Loken syndrome 9	germline	2	238328704	TTGGACGACAAGCTCTCTAGTGACGATGCGGTGCGGAGGGTTTTAGCTGGAGAGAAGGGAG
113994109	32452	NM_001845.5(COL4A1):c.2245G>A (p.Gly749Ser)	COL4A1	Mar 08, 2011	MedGen:CN032791,OMIM:175780	Porencephaly 1	germline	13	110179370	CCGGGACTCAAAGGTTTGCCAGGTCTTCCCGGCATTCCTGGCACACCCGGGGAGAAGGGGA
886042722	268093	NM_206933.2(USH2A):c.14175G>A (p.Trp4725Ter)	USH2A	Oct 03, 2015	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215650760	GAATTCTGCAGGAAAAGCCCCCAGTAGCTGGACATGGTGCAGAACCGGGCCAGCCCCACCA
869312702	225871	NM_001005336.2(DNM1):c.139G>A (p.Val47Met)	DNM1	Aug 07, 2015	MedGen:C4225357,OMIM:616346	Epileptic encephalopathy, early infantile, 31	de novo	9	128203609	GTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTCGAGAATTTCGTAGGCAGGTAGGCGC
397515390	39497	NM_003156.3(STIM1):c.970-1G>A	STIM1	Oct 25, 2010	MedGen:C2748557,OMIM:612783,Orphanet:ORPHA317430	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	germline	11	4082183	TAAATGAACTCACATCCTTTTGGCTGCCTAGGTTCGGGAGGCCTTGAGGAAAGCAGAGAAG
113993967	21579	NM_003722.4(TP63):c.1010G>A (p.Arg337Gln)	TP63	Jun 08, 2010	MedGen:C1863204,OMIM:103285,Orphanet:ORPHA978	ADULT syndrome	germline	3	189868597	TTCTAATTCCTAGTGGGCAAGTCCTGGGCCGACGCTGCTTTGAGGCCCGGATCTGTGCTTG
121908115	19242	NM_018972.2(GDAP1):c.719G>A (p.Cys240Tyr)	GDAP1	Apr 01, 2009	MedGen:C1842983,OMIM:607831,Orphanet:ORPHA101097	Charcot-Marie-Tooth disease type 2K	germline	8	74364009	AATTAGAAGAGGGCCAGCAACCTTGGCTCTGCGGTGAATCCTTCACCCTGGCAGACGTCTC
137852576	24867	NM_000044.4(AR):c.1826G>A (p.Arg609Lys)	AR	Nov 01, 1993	MedGen:C4016581	Androgen insensitivity, partial, with breast cancer	germline	X	67686067	GAAATGATTGCACTATTGATAAATTCCGAAGGAAAAATTGTCCATCTTGTCGTCTTCGGAA
121912621	19542	NM_016180.4(SLC45A2):c.469G>A (p.Asp157Asn)	SLC45A2	Oct 01, 2005	MedGen:C1847836,OMIM:606574,Orphanet:ORPHA79435	Oculocutaneous albinism type 4	germline	5	33982329	ATAGGTGTCGTTCTCTTTGATTTTGCTGCCGACTTCATTGATGGGCCCATCAAAGCCTACT
-1	445820	NM_000088.3(COL1A1):c.1300G>A (p.Gly434Ser)	COL1A1	Aug 11, 2017	MedGen:CN517202	not provided	germline	17	50195100	CTCAGCTCATCCTCTTCTCCCCCCTTGCAGGGTGAACCTGGTGCTCCTGGCAGCAAAGGAG
797045151	205554	NM_001190787.1(MCIDAS):c.1097G>A (p.Gly366Asp)	MCIDAS	Sep 03, 2015	MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Kartagener syndrome	germline	5	55220427	GCACCATCCGCACCCTCGCCTTCCCCCAGGGCAATGCCTTCACCATCAGAACAGCCAACGG
-1	414704	NM_021830.4(TWNK):c.1121G>A (p.Arg374Gln)	TWNK	Apr 07, 2017	MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN517202	Mitochondrial diseases;not provided	germline	10	100989331	ACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGT
368438393	187010	NM_000152.4(GAA):c.1933G>A (p.Asp645Asn)	GAA	Mar 07, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002;MedGen:CN517202	Glycogen storage disease, type II;not provided	germline;unknown	17	80112920	AACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAG
863223420	209589	NM_001204.6(BMPR2):c.1128+1G>A	BMPR2	Sep 15, 2015	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN517202	Primary pulmonary hypertension;not provided	germline	2	202530955	GGGGAGGAAGATAATGCAGCCATAAGCGAGGTGAGTGTATACAAAAGGTATCACACTGATG
398122888	45845	NM_018486.2(HDAC8):c.164+5G>A	HDAC8	Oct 23, 2012	MedGen:C3550903,OMIM:300882	Cornelia de Lange syndrome 5	germline	X	72572052	GCATATGCACTGCATAAGCAGATGAGGTAAGTTGTCTTTCTTGAACATAGCCCTGAAGCTA
121964895	15347	NM_000552.4(VWF):c.3614G>A (p.Arg1205His)	VWF	Jan 12, 2017	MedGen:CN517202;MedGen:C1264039,OMIM:193400,Orphanet:ORPHA166078,SNOMED CT:128106003;na	not provided;von Willebrand disease type 1;von Willebrand factor Vicenza	germline	12	6021960	ACTGTCCAGTGTGTGAGGTGGCTGGCCGGCGTTTTGCCTCAGGAAAGAAAGTCACCTTGAA
78970689	197675	NM_000138.4(FBN1):c.5513G>A (p.Gly1838Asp)	FBN1	May 07, 2014	MedGen:CN517202	not provided	germline	15	48452594	CAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAA
104894264	31742	NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn)	MEN1	Apr 19, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1	germline	11	64805132	GAGTGCTTCGCCCACCTGCTGCGATTCTACGACGGCATCTGCAAATGGGAGGAGGGCAGTC
121908294	17602	NM_024079.4(ALG8):c.824G>A (p.Gly275Asp)	ALG8	Jul 01, 2004	MedGen:C2931002,OMIM:608104,Orphanet:ORPHA79325	Congenital disorder of glycosylation type 1H	germline	11	78112724	TCTTTTCCCGACTCTTTCCTTTCAAGAGGGGCCTCTGTCATGCATATTGGGCTCCAAACTT
875989928	228182	NM_000527.4(LDLR):c.1731G>A (p.Trp577Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11116884	TCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGC
730881101	178943	NM_001001430.2(TNNT2):c.422G>A (p.Arg141Gln)	TNNT2	Sep 16, 2013	MedGen:CN517202	not provided	germline	1	201364335	GGGCAGAGCGGGCCGAGCAGCAGCGCATCCGGAATGAGCGGGAGAAGGAGCGGCAGAACCG
148960463	214847	NM_016218.3(POLK):c.85G>A (p.Glu29Lys)	POLK	Nov 06, 2013	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	somatic	5	75547107	ATGGGACTTAATGATAATAAAGCAGGAATGGAAGGATTAGATAAAGAGAAAATTAACAAAA
149390820	106602	NM_024312.4(GNPTAB):c.1774G>A (p.Ala592Thr)	GNPTAB	-	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	inherited	12	101765143	GACAATCCAATAATTCGACATGCTTCTATTGCCAACAAGTGGAAAACCATCCACCTCATAA
80356503	21445	NM_001457.3(FLNB):c.5071G>A (p.Gly1691Ser)	FLNB	Oct 09, 2008	MedGen:C0175778,SNOMED CT:63387002;MedGen:C1835564,OMIM:150250	Larsen syndrome;Larsen syndrome, dominant type	germline	3	58138491	CCGGGCACATATGTGATCTATGTGCGCTTCGGTGGTGTTGATATTCCTAACAGCCCCTTCA
1057519738	362873	NM_004448.3(ERBB2):c.2524G>A (p.Val842Ile)	ERBB2	May 31, 2016	MedGen:C0278701;MedGen:C0235782;MeSH:D015179,MedGen:CN236642;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MedGen:C0280630	Adenocarcinoma of stomach;Carcinoma of gallbladder;Colorectal Neoplasms;Malignant neoplasm of body of uterus;Neoplasm of the breast;Pancreatic adenocarcinoma;Uterine Carcinosarcoma	somatic	17	39725079	GGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAACGTGC
727503119	179890	NM_002294.2(LAMP2):c.864+1G>A	LAMP2	Nov 11, 2013	MedGen:CN517202	not provided	germline	X	120446304	ATTAAGTATCTAGACTTTGTCTTTGCTGTGGTGAGTAACAGATTTTTTAAAGTTAGGTTCA
398123490	99251	NM_000709.3(BCKDHA):c.1234G>A (p.Val412Met)	BCKDHA	Aug 25, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	19	41424504	AAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCA
397508006	67335	NM_000059.3(BRCA2):c.8754+1G>A	BRCA2	Apr 19, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32376792	AAGAATGCAGCAGACCCAGCTTACCTTGAGGTGAGAGAGTAAGAGGACATATAATGAGGCT
587779474	106913	NM_000090.3(COL3A1):c.2068G>A (p.Gly690Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999330	CCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTC
794727139	191636	NM_000440.2(PDE6A):c.1926+1G>A	PDE6A	Feb 02, 2015	MedGen:C3151139,OMIM:613810	Retinitis pigmentosa 43	germline	5	149884779	GAGTTTGGCAAAACACTGCTCAGAGACGAGGTAGGATGAGGGCCAAGGGTCTACAGGCCGC
-1	481159	NM_024887.3(DHDDS):c.192G>A (p.Trp64Ter)	DHDDS	Jan 24, 2018	na	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1bb (1 patient)	germline	1	26442742	TTGCCTTCTCCCCTCTCAGACTCTGCGGTGGTGTTTGAACCTGGGCATCCTAGAGGTGACA
794728199	197742	NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg)	FBN1	Jul 24, 2017	MedGen:CN229799;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48489980	CACCGCATGGACGCCTGCTGCTGCTCCGTCGGGGCAGCCTGGGGTACTGAGGAATGCGAGG
1060499794	389245	NM_004452.3(ESRRB):c.545G>A (p.Arg182His)	ESRRB	Jun 04, 2016	MedGen:C1837857,OMIM:608565	Deafness, autosomal recessive 35	germline	14	76482046	GTGTGCGCCTTGATCGAGTGCGTGGAGGCCGTCAGAAATACAAGCGACGGCTGGACTCAGA
398122968	96875	NM_001199107.1(TBC1D24):c.1206+5G>A	TBC1D24	Jan 01, 2014	MedGen:C1857345,OMIM:220500	Digitorenocerebral syndrome	germline	16	2499425	TGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGA
777027944	214552	NM_000532.4(PCCB):c.1210G>A (p.Glu404Lys)	PCCB	-	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136327166	AACTCTTCCTCATGTCTAGGCACAGCACAGGAATACGGGGGCATCATCCGGCATGGTGCCA
886041516	264091	NM_015265.3(SATB2):c.1286G>A (p.Arg429Gln)	SATB2	Jun 21, 2017	MedGen:CN517202	not provided	germline	2	199328798	AGAATTTCCTCAATCTGCCAGAAGTGGAGCGAGATCGCATCTACCAGGATGAGAGGGAGCG
121913509	28901	NM_000222.2(KIT):c.2515G>A (p.Glu839Lys)	KIT	Jul 14, 2015	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C4016295	Gastrointestinal stroma tumor;Mastocytosis, sporadic, childhood-onset	germline;somatic	4	54736528	GCTCGACTACCTGTGAAGTGGATGGCACCTGAAAGCATTTTCAACTGTGTATACACGTTTG
587779672	107176	NM_000090.3(COL3A1):c.3266G>A (p.Gly1089Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007510	TTCAAAATATGTTTCTAAAGGGTCCTCAAGGCCCACGTGGTGACAAAGGTGAAACAGGTGA
587777850	166306	NM_004975.3(KCNB1):c.1135G>A (p.Gly379Arg)	KCNB1	Oct 01, 2014	MedGen:C4015119,OMIM:616056	Epileptic encephalopathy, early infantile, 26	germline	20	49374425	TGGTGGGCCACCATCACCATGACTACTGTTGGGTATGGAGACATCTACCCCAAGACTCTCC
869312990	226856	NM_000048.3(ASL):c.718+5G>A	ASL	-	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66087796	TGCCACTAGTGAGCGGGACTTTGTGGGTGAGTCCTGGGGAGCCAGTCCCCTGCCCTGTGCC
80356692	33904	NM_000083.2(CLCN1):c.937G>A (p.Ala313Thr)	CLCN1	May 09, 2016	MedGen:C0027127,Orphanet:ORPHA206973;MedGen:CN517202	Myotonia congenita;not provided	germline	7	143330855	TGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCAGTGTGGA
397515555	76592	NM_005211.3(CSF1R):c.1958G>A (p.Cys653Tyr)	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	not provided	5	150060873	ACGAGAACATCGTCAACCTTCTGGGAGCCTGTACCCATGGAGGTAAGGGCCTTGGGGTTCC
606231357	22984	NM_000503.5(EYA1):c.966+5G>A	EYA1	Mar 01, 2009	MedGen:C0265234,OMIM:113650,Orphanet:ORPHA107,SNOMED CT:290006	Melnick-Fraser syndrome	de novo;germline	8	71271753	CACCTCCCCCAGATTCTGATCTTGAGGTACGTCATAGCCAACACCCAAGTGAATAGAAAGG
180177239	186657	NM_000030.2(AGXT):c.568G>A (p.Gly190Arg)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240873022	CTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTA
72558416	103166	NM_000531.5(OTC):c.622G>A (p.Ala208Thr)	OTC	Aug 08, 2017	MedGen:CN517202	not provided	germline;unknown	X	38403699	AACAATATCCTGCACTCCATCATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAGGCAG
886039705	259706	NM_001165963.1(SCN1A):c.3857G>A (p.Trp1286Ter)	SCN1A	Aug 05, 2016	MedGen:CN517202	not provided	germline	2	166012131	ATCAAACATATTTCACCAATGCCTGGTGTTGGCTGGACTTCTTAATTGTTGATGTAGGTAT
769035623	445415	NM_000520.5(HEXA):c.233G>A (p.Trp78Ter)	HEXA	Nov 02, 2017	MedGen:CN517202	not provided	germline	15	72375740	ATCGTGACCTGCTTTTCGGTTCCGGGTCTTGGCCCCGTCCTTACCTCACAGGTGAGTCGGA
179363897	78957	NM_152384.2(BBS5):c.413G>A (p.Arg138His)	BBS5	-	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	germline	2	169492900	ATAGAGCTTATGAAACTTCTAAAATGTATCGTGATTTTAAATTAAGAAGTGCACTAATTCA
375683615	39197	NM_006225.3(PLCD1):c.1657G>A (p.Ala553Thr)	PLCD1	Jun 10, 2011	MedGen:C0544855,OMIM:151600,Orphanet:ORPHA2387	Leukonychia totalis	germline	3	38009108	AACGTGGGGCACCTGAGCAGAATCTACCCGGCTGGATGGAGAACAGACTCCTCCAACTACA
200147906	173640	NM_194248.2(OTOF):c.4799+1G>A	OTOF	Jan 30, 2014	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	2	26465671	CACCTGCGGCATCGCCCAGACCTACTCCACGTATGTGGGGCATGGGGCAGAGGGCGGGGGC
-1	424354	NM_001197104.1(KMT2A):c.5803-1G>A	KMT2A	-	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	de novo	11	118498369	GAATAGGACTCTGTTCTTTTTGGATTTTTAGAGATGTGAATTCTGCCAAAAGCCAGGAGCC
869025631	224916	NM_000551.3(VHL):c.332G>A (p.Ser111Asn)	VHL	Feb 26, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	germline	3	10142179	TGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGGCC
869312070	225040	NM_001256850.1(TTN):c.44423-1G>A	TTN	May 27, 2015	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	2	178613938	ATAACATTTTACACCATTATCCTGTCTATAGATCCACCTGGTCCTCCAACTCGCCTAGAAC
-1	425417	NM_021007.2(SCN2A):c.2810G>A (p.Arg937His)	SCN2A	Jun 08, 2017	MedGen:CN517202	not provided	germline	2	165344802	ACTTTTTCCACTCCTTCCTGATCGTGTTCCGCGTGCTGTGTGGAGAGTGGATAGAGACCAT
1064794302	405925	NM_000179.2(MSH6):c.3140G>A (p.Trp1047Ter)	MSH6	Feb 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	2	47801123	TCTATAACTTTGATAAAAATTACAAGGACTGGCAGTCTGCTGTAGAGTGTATCGCAGTGTT
-1	434182	NM_000527.4(LDLR):c.-172G>A	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089377	CGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAAC
1057518221	360334	NM_000088.3(COL1A1):c.3208G>A (p.Gly1070Ser)	COL1A1	Nov 03, 2016	MedGen:CN517202	not provided	germline	17	50188149	AAGAGCTCATGCTTTCCTTGCTCTCCCCAGGGTCCTGCTGGTCCCGCCGGTCCTGTCGGCC
397515626	79353	NM_000394.3(CRYAA):c.62G>A (p.Arg21Gln)	CRYAA	Mar 01, 2013	MedGen:C1858679,OMIM:604219	Cataract, autosomal dominant	germline	21	43169161	AGCGCACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAGGGCCT
863224981	213880	NM_004006.2(DMD):c.1388G>A (p.Trp463Ter)	DMD	Jun 30, 2012	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32614397	AGAATCAGAAACTGAAAGAGTTGAATGACTGGCTAACAAAAACAGAAGAAAGAACAAGGAA
80356885	69888	NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43074482	TTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAG
886044535	274932	NM_001848.2(COL6A1):c.957+1G>A	COL6A1	Sep 03, 2016	MedGen:CN033863,OMIM:254090	Ullrich congenital muscular dystrophy 1	germline	21	45990285	CAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTC
118204107	16503	NM_000190.3(HMBS):c.331G>A (p.Gly111Arg)	HMBS	Oct 08, 1999	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119089747	CCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGTAAGAGTCTTGCAAGT
151340627	26842	NM_001127899.3(CLCN5):c.1238G>A (p.Trp413Ter)	CLCN5	Mar 01, 1997	MedGen:C1839874,OMIM:308990	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	germline	X	50086551	GAGCACTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAGTTGGG
121912768	32743	NM_001202.5(BMP4):c.860G>A (p.Arg287His)	BMP4	Mar 01, 2009	MedGen:C2677434,OMIM:600625	Orofacial cleft 11	germline	14	53950399	ATGATGGCCGGGGCCATGCCTTGACCCGACGCCGGAGGGCCAAGCGTAGCCCTAAGCATCA
121918694	27593	NM_000461.4(THRB):c.700G>A (p.Ala234Thr)	THRB	Jun 16, 2017	MedGen:CN118820;MedGen:C2937288,OMIM:188570	Thyroid Hormone Resistance;Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24143539	ACTGTCACCGAAGCCCATGTGGCGACCAACGCCCAAGGCAGCCACTGGAAGCAAAAACGGA
56141211	24167	NM_001491.2(GCNT2):c.1043G>A (p.Gly348Glu)	GCNT2	Dec 15, 2001	MedGen:C3805373,OMIM:116700	Cataract 13 with adult i phenotype	germline	6	10626447	GCCACTATGTACATGGTATTTGTATCTATGGAAACGGAGACTTAAAGTGGCTGGTTAATTC
111033784	36623	NM_000155.3(GALT):c.922G>A (p.Glu308Lys)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649427	TTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGC
72558464	103250	NM_000531.5(OTC):c.908G>A (p.Cys303Tyr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38411902	TTGCTGCCTCTGACTGGACATTTTTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGGATGA
879254957	246237	NM_000527.4(LDLR):c.1607G>A (p.Trp536Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116114	CTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGG
587778720	139098	NM_000546.5(TP53):c.638G>A (p.Arg213Gln)	TP53	Aug 23, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;MeSH:D003528,MedGen:C0010606;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;MeSH:D009303,MedGen:C0027439;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006739,MedGen:C0553723;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MedGen:CN517202;MedGen:CN169374	Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adenoid cystic carcinoma;Adrenocortical carcinoma;Carcinoma of esophagus;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Nasopharyngeal Neoplasms;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;not provided;not specified	germline;somatic	17	7674893	TGGAGTATTTGGATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTATGAGCCGCC
121434355	17024	NM_207361.5(FREM2):c.5920G>A (p.Glu1974Lys)	FREM2	Sep 01, 2008	MedGen:CN464191,OMIM:617666	FRASER SYNDROME 2	germline	13	38784709	GTCATAATTGATGACTCTTTGTACGAGGAGGAGGAAACCTTCCATGTCCTTCTGAGCATGC
267607042	16071	NM_015559.2(SETBP1):c.2602G>A (p.Asp868Asn)	SETBP1	Feb 08, 2013	MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	Schinzel-Giedion syndrome	germline	18	44951942	GAGTCCCACAGTGAGGAGACGATCCCCAGCGACAGCGGCATTGGGACAGACAACAACAGCA
587780588	139371	NM_001845.5(COL4A1):c.2086G>A (p.Gly696Ser)	COL4A1	Feb 11, 2016	MedGen:C1843512,OMIM:607595;MedGen:CN517202	Brain small vessel disease with hemorrhage;not provided	de novo;germline	13	110183002	CAGCCAGGCATTGGATTTCCAGGGCCCCCCGGCCCCAAAGGTAACCCTGCCAGACGGACCC
727504349	175160	NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter)	MYBPC3	Jun 07, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47335200	CCTCCCCCTCCCCACCCCCAGGCTCAGAGTGGGTGGCTGCCCTGCAGGGGCTGACAGAGCA
786204181	186092	NM_002485.4(NBN):c.2165G>A (p.Trp722Ter)	NBN	Nov 25, 2014	MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009	Microcephaly, normal intelligence and immunodeficiency	germline	8	89943272	ATGCTCGAAAGAATACAGAACTAGAAGAGTGGCTAAGGCAGGAAATGGAGGTTAGTAGGAA
137852671	24136	NM_001287174.1(ABCC8):c.4519G>A (p.Glu1507Lys)	ABCC8	Oct 07, 2015	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005;MedGen:CN517202	Persistent hyperinsulinemic hypoglycemia of infancy;not provided	germline	11	17394295	GTGAGGAAGACCAGCATCTTCATCATGGACGAGGCCACGGCTTCCATTGACATGGCCACGG
753920931	465091	NM_025137.3(SPG11):c.4790G>A (p.Trp1597Ter)	SPG11	Jul 05, 2017	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	germline	15	44589368	CAAAGGTCCACCCTGTCATCCCTGCCATGTGGCTGGAGGATCAGGTGTGTTTCCTTTTGAA
111033309	52701	NM_000441.1(SLC26A4):c.2015G>A (p.Gly672Glu)	SLC26A4	Feb 19, 2015	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004	Enlarged vestibular aqueduct;Pendred's syndrome	germline	7	107702038	GTGGAGCTATATCTTTCCTGGACGTTGTTGGAGTGAGATCACTGCGGGTGGTAAGGTTCTG
-1	433384	NM_000061.2(BTK):c.1780G>A (p.Gly594Arg)	BTK	Dec 15, 2016	MedGen:CN169374	not specified	germline	X	101353322	GGGGTTTTGATGTGGGAAATTTACTCCCTGGGGAAGATGCCATATGAGAGATTTACTAACA
122456133	26653	NM_005183.3(CACNA1F):c.1106G>A (p.Gly369Asp)	CACNA1F	Jul 01, 1998	MedGen:C1848172,OMIM:300071	Congenital stationary night blindness, type 2A	germline	X	49228048	GGTCCTTCTTCGTCCTCAACCTTGTGCTTGGCGTCCTGAGTGGGTGAGAGACCTAGACACT
-1	446612	NM_000444.5(PHEX):c.663+1G>A	PHEX	Jun 20, 2016	MedGen:CN517202	not provided	germline	X	22077703	GACAAAGCATCCAATGAACATATCTTGAAGGTATAATGAGGACCCATTCATCTTCTTTGCT
587777379	136540	NM_001845.5(COL4A1):c.3976G>A (p.Gly1326Arg)	COL4A1	Jan 01, 2013	Human Phenotype Ontology:HP:0010636,MedGen:C0266484,OMIM:269160,Orphanet:ORPHA799,SNOMED CT:253159001	SCHIZENCEPHALY	germline	13	110166277	TTAGGTCCAAAAGGTCTTCCTGGCCTCCAGGGAATTAAAGGTGATCAAGGCGATCAAGGCG
1060503762	390935	NM_003000.2(SDHB):c.141G>A (p.Trp47Ter)	SDHB	Oct 09, 2016	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C1861848,OMIM:115310;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Gastrointestinal stroma tumor;Paragangliomas 4;Pheochromocytoma	germline	1	17044820	CCGTATCAAGAAATTTGCCATCTATCGATGGGACCCAGACAAGGCTGGAGACAAACCTCAT
104886329	35754	NM_000495.4(COL4A5):c.1424-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108595508	TAAAATTTGTTTGTTATTATGATTTCACTAGGTGACAAAGGTGACACTTGCTTCAACTGCA
-1	380444	NM_000228.2(LAMB3):c.3383-1G>A	LAMB3	Mar 01, 2017	MedGen:C0399367,OMIM:104530,Orphanet:ORPHA100031,SNOMED CT:109476006	Amelogenesis imperfecta, type IA	germline	1	209615408	CCTCCTCCTGCTGCTGTTCCATTTGCCTCAGACATGGAGTTGGAGCTGCTGCGGGGCAGCC
104894273	15515	NM_000317.2(PTS):c.74G>A (p.Arg25Gln)	PTS	May 01, 1994	MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13	6-pyruvoyl-tetrahydropterin synthase deficiency	germline	11	112226517	CCCGCCGCATCTCCTTCAGCGCGAGCCACCGATTGTACAGGTAGGGTGTGCACACAGGTAC
1085307267	414206	NM_001204.6(BMPR2):c.853-1G>A	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202520086	TTTTTTTTTTCGCATTTTTTCCTCTATATAGGGATCTTTATGCAAGTATTTAAGTCTCCAC
80338723	21044	NM_014251.2(SLC25A13):c.1311+1G>A	SLC25A13	Jan 05, 2012	MedGen:C1863844,OMIM:603471,Orphanet:ORPHA247585	Citrullinemia type II	germline	7	96170044	CTTGCAGCAGAAATTCTTGCTGGAGGCTGCGTAAGTACCTTTTGAAGCTCTCTTCATTGAA
796052923	201117	NM_000310.3(PPT1):c.234+1G>A	PPT1	Aug 06, 2013	MedGen:CN517202	not provided	germline	1	40092397	TCTTTAGAGATTGGGAAGACCCTGATGGAGGTAAGGCGCTTCACAGCTGTTCCTTTGAAGG
267606800	464356	NM_000138.4(FBN1):c.4691G>A (p.Cys1564Tyr)	FBN1	May 30, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48467994	GAGTTGGTGTTTCCAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCTTG
-1	445344	NM_000138.4(FBN1):c.6953G>A (p.Cys2318Tyr)	FBN1	Sep 21, 2017	MedGen:CN517202	not provided	germline	15	48428390	TCAACACCCGTGGGAGCTACACCTGTGAGTGTAATGATGGGTTTACCGCCAGCCCCAACCA
397514767	75619	NM_203330.2(CD59):c.266G>A (p.Cys89Tyr)	CD59	Jan 03, 2013	MedGen:C2676767,OMIM:612300,Orphanet:ORPHA169464	Cd59 deficiency	germline	11	33710247	TGAGGGAAAATGAGCTAACGTACTACTGCTGCAAGAAGGACCTGTGTAACTTTAACGAACA
121909734	31164	NM_005271.4(GLUD1):c.1496G>A (p.Gly499Asp)	GLUD1	Apr 16, 2015	MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878	Hyperinsulinism-hyperammonemia syndrome	germline	10	87053403	TGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGG
879255261	206661	NM_032436.3(CHAMP1):c.1002G>A (p.Trp334Ter)	CHAMP1	Mar 12, 2015	MedGen:C4225275,OMIM:616579	Mental retardation, autosomal dominant 40	germline	13	114324844	ATCCAATCCTTCAGCATCATCAGGACCTTGGAAGCCAGCTAAACCTGCTCCATCTGTGTCT
28933687	25585	NM_006915.2(RP2):c.353G>A (p.Arg118His)	RP2	Aug 01, 2000	MedGen:C2681923,OMIM:312600	Retinitis pigmentosa 2	germline	X	46853726	GCAAGTGCACATTAGCCTGCCAACAATTTCGTGTGCGAGATTGTAGAAAGCTGGAAGTCTT
876657393	188222	NM_001288953.1(TTC7A):c.2392G>A (p.Ala798Thr)	TTC7A	Apr 01, 2014	MedGen:C0220744,OMIM:243150,Orphanet:ORPHA436252,SNOMED CT:95472001	Multiple gastrointestinal atresias	germline	2	47073840	GTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACCGCCCTTGAGC
367543051	51275	NM_001100.3(ACTA1):c.727G>A (p.Glu243Lys)	ACTA1	Apr 11, 2013	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007	Congenital myopathy with fiber type disproportion	not provided	1	229432075	GCCTCCTCCTCCTCCCTGGAAAAGAGCTACGAGCTGCCAGACGGGCAGGTCATCACCATCG
72653169	32334	NM_000088.3(COL1A1):c.3028G>A (p.Gly1010Ser)	COL1A1	Jan 15, 1993	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	germline	17	50188920	ATGGGCCCCCCTGGATTGGCTGGACCCCCTGGTGAATCTGGACGTGAGGTGAGCAGTCCCC
2904552	19050	NM_016335.4(PRODH):c.1292G>A (p.Arg431His)	PRODH	Mar 01, 2005	MedGen:C0268529,OMIM:239500,Orphanet:ORPHA419,SNOMED CT:61071003;MedGen:C1833247,OMIM:600850	Proline dehydrogenase deficiency;Schizophrenia 4	germline	22	18918451	ACAATGTGACCCTGGACGTGGAGCTGGCTCGCCGTGAGGGCTGGTGTTTTGGGGCCAAGCT
61749385	106177	NM_000552.4(VWF):c.3917G>A (p.Arg1306Gln)	VWF	Dec 02, 2016	MedGen:CN517202	not provided	germline	12	6019501	TGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGT
876660678	235211	NM_024675.3(PALB2):c.2630G>A (p.Trp877Ter)	PALB2	Sep 12, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23626354	CCTGTTCCGTAGATGTGAGTGCCATGTTTTGGGAAAGAGCCGGTTGTAAAGAGCCATGTAT
121918718	27524	NM_000359.2(TGM1):c.425G>A (p.Arg142His)	TGM1	Sep 01, 1997	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24261778	ACGAGTATGAGTACGACGAGCTGATAGTGCGCCGCGGGCAGCCTTTCCATATGCTCCTCCT
137852655	24233	NM_000095.2(COMP):c.2156G>A (p.Gly719Asp)	COMP	Feb 28, 2013	na;MedGen:C0410538,OMIM:177170,Orphanet:ORPHA750,SNOMED CT:22567005	Pseudoachondroplasia, severe;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	germline	19	18783125	GCAACGTGGTCTTGGACACAACCATGCGGGGTGGCCGCCTGGGGGTCTTCTGCTTCTCCCA
66523073	32335	NM_000088.3(COL1A1):c.3064G>A (p.Gly1022Ser)	COL1A1	Nov 25, 1989	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	germline	17	50188777	CTCTCTCTGCAGGGGGCTCCTGGTGCCGAAGGTTCCCCTGGACGAGACGGTTCTCCTGGCG
113605263	27487	NM_152263.3(TPM3):c.855-1G>A	TPM3	Aug 27, 2002	MedGen:C1836448,OMIM:609284;MedGen:CN517202	Nemaline myopathy 1;not provided	germline	1	154167941	TCACCTAGAGTATCCTTACTTTTTCATACAGATAATTATCACCGTTTCTGCTCTGTTCTGG
121913020	31823	NM_000400.3(ERCC2):c.335G>A (p.Arg112His)	ERCC2	Apr 25, 2017	MedGen:C1866504,OMIM:601675;MedGen:C0268138,OMIM:278730,SNOMED CT:68637004;MedGen:CN517202	Trichothiodystrophy 1, photosensitive;Xeroderma pigmentosum, group D;not provided	germline	19	45368655	TGCCGTTTCTGGGACTGGCTCTGAGCTCCCGCAAAAACTTGTGTATTCACCCTGAGGTGAG
149659001	441559	NM_000486.5(AQP2):c.211G>A (p.Val71Met)	AQP2	Jan 25, 2017	MedGen:CN517202	not provided	germline	12	49951041	CACATAAGCGGGGCCCACATCAACCCTGCCGTGACTGTGGCCTGCCTGGTGGGCTGCCACG
794727236	192186	NM_000162.4(GCK):c.118G>A (p.Glu40Lys)	GCK	Nov 22, 2014	MedGen:C1841962,OMIM:125851	Maturity-onset diabetes of the young,  type 2	germline	7	44153391	CTGAAGAAGGTGATGAGACGGATGCAGAAGGAGATGGACCGCGGCCTGAGGCTGGAGACCC
119485092	20074	NM_022041.3(GAN):c.413G>A (p.Arg138His)	GAN	Dec 01, 2000	MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:128207002	Giant axonal neuropathy	germline	16	81354535	GCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTTGCACTACATTACTGCCTCCATCA
28940291	17307	NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)	MFN2	Jul 13, 2017	MedGen:CN043576;MedGen:C1836485,OMIM:609260,Orphanet:ORPHA99947;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A;not provided	germline	1	11992660	AAGTGAGAGGCATCAGTGAGGTGCTGGCTCGGAGGCACATGAAAGTGGCTTTTTTTGGCCG
804290	426532	NM_002052.4(GATA4):c.*852G>A	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11759327	ACATAGAGGGGTTCTGAGTAAGAACAAAACGTTCTGCTGCTCAAGCCAGTCTGGCAAGCAC
61672878	29534	NM_170707.3(LMNA):c.1130G>A (p.Arg377His)	LMNA	Jul 05, 2017	MedGen:CN043576;MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264;MeSH:D009136,MedGen:C0026850,Orphanet:ORPHA98473;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2;Dilated cardiomyopathy 1A;Limb-girdle muscular dystrophy, type 1B;Muscular dystrophy;not provided	germline	1	156136094	TGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTG
745603321	440095	NM_025132.3(WDR19):c.3800G>A (p.Cys1267Tyr)	WDR19	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	4	39277103	AATTTCTTCTCCCAGAGTGTGAACTCCTCTGTCCTGGATGTAAAAACAGTATCCCATATTG
886041134	265155	NM_000047.2(ARSE):c.1300G>A (p.Gly434Ser)	ARSE	Apr 13, 2016	MedGen:CN517202	not provided	germline	X	2936853	TGCCATGTTCCTTCCTGCAGAGTGATTGACGGCCAAGACCTTCTGCCCTTGCTCCTGGGGA
1057519537	362335	NM_003165.3(STXBP1):c.1565G>A (p.Trp522Ter)	STXBP1	Nov 16, 2016	Human Phenotype Ontology:HP:0200134,MedGen:C0543888	Epileptic encephalopathy	de novo	9	127682423	CTCTCTTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCG
121918725	27531	NM_000359.2(TGM1):c.832G>A (p.Gly278Arg)	TGM1	Jan 09, 2017	MedGen:C3536797,OMIM:242300;MedGen:CN517202	Autosomal recessive congenital ichthyosis 1;not provided	germline	14	24259984	GTTCTTAATGAGTCTGGGAGAATTTACTACGGGACCGAAGCACAGATTGGTGAGCGGACCT
397508176	67882	NM_000492.3(CFTR):c.1209+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117542109	ATGGAGAATGTAACAGCCTTCTGGGAGGAGGTCAGAATTTTTAAAAAATTGTTTGCTCTAA
121908569	20914	NM_004836.6(EIF2AK3):c.1763G>A (p.Arg588Gln)	EIF2AK3	Aug 01, 2000	MedGen:C0432217,OMIM:226980,Orphanet:ORPHA1667,SNOMED CT:254066006	Wolcott-Rallison dysplasia	germline	2	88583430	ATGACATAAAAAACTCTGGATATATATCACGGTAAGAGTCTTATAAAATACAACCATCTGA
587778785	76752	NM_000784.3(CYP27A1):c.1264-1G>A	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218814544	GGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTG
869025323	223716	NM_001042616.2(PIGY):c.-540G>A	PIGY	Jan 10, 2018	MedGen:C4225201,OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	germline	4	88523797	TCCTCGGCAGCGTTTCCTGGAGGACCAGGGGGCGGGGCCTGCCCGGCTGGCCTGGACGAAC
587779610	107074	NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007528	AGGGTCCTCAAGGCCCACGTGGTGACAAAGGTGAAACAGGTGAACGTGGAGCTGCTGGCAT
199476112	24747	NC_012920.1:m.11778G>A	MT-ND4	Oct 03, 2017	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003;MedGen:CN517202;MedGen:CN169374	Leber's optic atrophy;not provided;not specified	germline	MT	11778	CAAACTCAAACTACGAACGCACTCACAGTCGCATCATAATCCTCTCTCAAGGACTTCAAAC
-1	432451	NM_001270.2(CHD1):c.5123G>A (p.Arg1708Gln)	CHD1	Sep 21, 2017	MedGen:CN482172,OMIM:617682	PILAROWSKI-BJORNSSON SYNDROME	germline	5	98856390	AAAGTACACCGGAGCATACCTGGAGTAGTCGGAAAACATAACAAAAACTGATACTTCGTCT
118204087	16551	NM_000298.5(PKLR):c.110G>A (p.Gly37Glu)	PKLR	Jan 01, 1997	MedGen:C1863224,OMIM:102900	Adenosine triphosphate, elevated, of erythrocytes	germline	1	155300271	CTGAGCCCCCTTCTACCACAGGGCCAGCGGGGTATCTGCGGCGGGCCAGTGTGGCCCAACT
118204068	16578	NM_000237.2(LPL):c.829G>A (p.Asp277Asn)	LPL	Jul 01, 1992	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19955894	TCCCACGAGCGCTCCATTCATCTCTTCATCGACTCTCTGTTGAATGAAGAAAATCCAAGTA
75267011	17887	NM_020184.3(CNNM4):c.707G>A (p.Arg236Gln)	CNNM4	Feb 01, 2009	MedGen:C1857588,OMIM:217080,Orphanet:ORPHA1021	Cone-rod dystrophy amelogenesis imperfecta	germline	2	96761706	GGCGCTATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAACTACCTTCTCTGCTCGTT
113994037	19158	NM_001034116.1(EIF2B4):c.1191+1G>A	EIF2B4	Feb 01, 2002	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	2	27366758	ATTCCTGCAGCCTCCTATGTGCTCCCAGAGGTAAGTACAGAGGAAAAGGACTCCAAAGTTG
74315205	19565	NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	WFS1	Jul 21, 2017	MedGen:CN184629;MedGen:C1833021,OMIM:600965;MedGen:C1857286,OMIM:614296,Orphanet:ORPHA411590;MedGen:CN517202	DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss;WFS1-Related Disorders;Wolfram-like syndrome, autosomal dominant;not provided	germline	4	6302385	CTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCG
483352908	39789	NM_152419.2(HGSNAT):c.234+1G>A	HGSNAT	Mar 31, 2014	MedGen:C0086649,OMIM:252930,Orphanet:ORPHA79271,SNOMED CT:75238000;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-C;not provided	germline	8	43147064	GTCTACTGGAAATCTGAATGCTGTTATCACGTATGTATCAGTTCACACTCAGTTCTGTTTG
28897756	46771	NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=)	BRCA2	Jul 24, 2017	MedGen:C2675520,OMIM:612555;MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462;MedGen:C2751641,OMIM:613029;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;MedGen:C3150546,OMIM:613347;MedGen:C1861028,OMIM:189960;MedGen:CN033288,OMIM:194070;MedGen:CN517202	Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia, complementation group D1;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Malignant tumor of prostate;Medulloblastoma;Pancreatic cancer 2;Tracheoesophageal fistula;Wilms tumor 1;not provided	germline;unknown	13	32379913	GACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTT
72664282	427062	NM_001171.5(ABCC6):c.645G>A (p.Thr215=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16212202	GACTGGGGCAGCCTTCCCCTCCAAAGCCACGTTCTGGTGGGTTTCTGGGTAAGTAAAGTCG
1131692280	424508	NM_000297.3(PKD2):c.1319+1G>A	PKD2	Jun 30, 2017	MedGen:C2751306,OMIM:613095;MedGen:CN119611	Polycystic kidney disease 2;Polycystic kidney disease, autosomal dominant	germline;unknown	4	88043458	CGCCAACATTAACCTGTTCTGTGTGGTCAGGTGTGTACTGAGGACATGCATCCCTCCTATT
879255676	247656	NM_144997.5(FLCN):c.1300+1G>A	FLCN	Feb 06, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas	germline	17	17216379	TGCAGATCCCCCCCCACGTGCTCTCCTCAGGTGCGTGCCCCCGCGGGCTGTGGGGCCATGC
199476085	23270	NM_004329.2(BMPR1A):c.812G>A (p.Trp271Ter)	BMPR1A	Jun 01, 2001	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	germline	10	86917270	AAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACTGT
794726974	190729	NM_000214.2(JAG1):c.1326G>A (p.Trp442Ter)	JAG1	May 11, 2015	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10649544	CAGCTACTACTGCGACTGTCTTCCCGGCTGGATGGGTCAGAATTGTGACATAAGTGAGTGA
587779671	107172	NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del)	COL3A1	Aug 03, 2000	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988139	GTACATCTGGTCATCCTGGTTCCCCTGTAAGTATAGCCATTGGTGGTGTTTTCTTCCTCAT
121908022	18787	NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys)	ALG9	Jul 01, 2004	MedGen:C2931006,OMIM:608776,Orphanet:ORPHA79328,SNOMED CT:720978005	ALG9 congenital disorder of glycosylation	germline	11	111836179	CCTACTGACATGAATGACCAGAATCTAGAAGAGCCATCCAGATATGTAAGGGCTACATTCT
1064792875	224781	NM_001257989.1(TYMP):c.1326G>A (p.Trp442Ter)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50525908	AACAGCCCCTCGCTCTGCAGGGACCCCCTGGCTCCGCGTGCACCGGGACGGCCCCGCGCTC
-1	481351	NM_001127899.3(CLCN5):c.575G>A (p.Trp192Ter)	CLCN5	Oct 12, 2017	MedGen:C1848336,OMIM:300009	Dent disease 1	germline	X	50075954	AGAGAGACAAATGTCCAGAGTGGAATAGTTGGTCCCAGCTTATCATCAGCACAGATGAGGT
886037851	247548	NM_003705.4(SLC25A12):c.1058G>A (p.Arg353Gln)	SLC25A12	Aug 01, 2016	MedGen:C2751855,OMIM:612949,Orphanet:ORPHA353217	Hypomyelination, global cerebral	germline	2	171813452	CAGTGTATCCTATAGATCTGGTGAAGACCCGAATGCAAAACCAGCGTGGCTCTGGCTCTGT
62514893	15661	NM_000277.2(PAH):c.3G>A (p.Met1Ile)	PAH	Jan 01, 1992	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102917128	CCAGAGACCTCACTCCCGGGGAGCCAGCATGTCCACTGCGGTCCTGGAAAACCCAGGCTTG
1064792861	224749	NM_001257989.1(TYMP):c.340G>A (p.Asp114Asn)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50529213	TGGCCAGAGGCCTGGCGCCAGCAGCTTGTGGACAAGCATTCCACAGGGGGTGTGGGTGACA
121434371	17122	NM_000159.3(GCDH):c.877G>A (p.Ala293Thr)	GCDH	May 26, 2017	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005	Glutaric aciduria, type 1	germline	19	12896934	CTACAGGGTCCCTTCGGCTGCCTGAACAACGCCCGGTACGGCATCGCGTGGGGCGTGCTTG
146075796	259844	NM_005943.5(MOCS1):c.1102+1G>A	MOCS1	Jun 22, 2017	MedGen:CN517202	not provided	germline	6	39909834	CTGTGGGCAGGAAGAAGCGGCAGCATGCAGGTAAGTGCAGGGTGGGGAGGGCTGGCCTGGA
869312137	214050	NM_000169.2(GLA):c.104G>A (p.Gly35Glu)	GLA	Jan 01, 2014	MedGen:CN233149;Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Deoxygalactonojirimycin response;Fabry disease	inherited	X	101407800	ACATCCCTGGGGCTAGAGCACTGGACAATGGATTGGCAAGGACGCCTACCATGGGCTGGCT
587776951	49864	NM_001159772.1(CANT1):c.-286+1G>A	CANT1	Mar 29, 2013	MedGen:C4012146,OMIM:251450	Desbuquois dysplasia 1	germline	17	79009663	TCGCGGGCACCGGAGCCAGCCCCGCAGCGGGTGAGTGACTGCGCCCGCGGCCGCCGGCGCC
80356913	69138	NM_007294.3(BRCA1):c.212G>A (p.Arg71Lys)	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43106456	GTCCTTTATGTAAGAATGATATAACCAAAAGGTATATAATTTGGTAATGATGCTAGGTTGG
35378915	30069	NM_000559.2(HBG1):c.-170G>A	HBG1	Aug 06, 1992	MedGen:C1841621,OMIM:141749;MedGen:C4017537;MedGen:C3891817	Fetal hemoglobin quantitative trait locus 1;Greek HPFH;Sardinian HPFH	germline	11	5249974	CTCCACCCATGGGTTGGCCAGCCTTGCCTTGACCAATAGCCTTGACAAGGCAAACTTGACC
797044510	178183	NM_000260.3(MYO7A):c.470+1G>A	MYO7A	Aug 19, 2014	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77156092	CAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCA
794728161	197818	NM_000138.4(FBN1):c.539-1G>A	FBN1	Jan 13, 2016	MedGen:CN517202	not provided	germline	15	48537809	TTTTCATCAGATTTTTATTCTTTATTTTCAGATTACAGGACAGGCCCATGTTTTACTGTGA
201335279	439656	NM_001447.2(FAT2):c.10946G>A (p.Arg3649Gln)	FAT2	Nov 16, 2017	MedGen:CN623017,OMIM:617769	SPINOCEREBELLAR ATAXIA 45	germline	5	151521647	CCCCCGAGGAGCTGGTGAGTGACCACTGGCGGAACCTGCAGAGGTTCCTCAGCCATAAGCT
121907954	18937	NM_000520.5(HEXA):c.805G>A (p.Gly269Ser)	HEXA	May 24, 2017	MedGen:CN068773;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Gm2-gangliosidosis, adult;Tay-Sachs disease;not provided	germline;unknown	15	72350518	ACTCCTGGCCACACTTTGTCCTGGGGACCAGGTAAGAATGATGTCTGGGACCAGAGGGACT
-1	450492	NM_000384.2(APOB):c.1830-1G>A	APOB	Jul 25, 2017	MedGen:CN182502,OMIM:615558	Hypobetalipoproteinemia, familial, 1	germline	2	21028066	GTCAGCTCAAAATATACTTCTTCTTATCTAGTCTGAAAAAGTTAGTGAAAGAAGCTCTGAA
121909392	16350	NM_001174089.1(SLC4A11):c.2558G>A (p.Arg853His)	SLC4A11	Jan 01, 2007	MedGen:C0544008	Corneal endothelial dystrophy	germline	20	3228259	CCCTCATCATGATCGCCATGATCCCCATCCGGTACAGGCGGGTGGGCAGTGGGCAGGAGGG
587779836	132833	NM_000051.3(ATM):c.3836G>A (p.Trp1279Ter)	ATM	Oct 09, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108284316	AGTCCATTGCTAATCAGATTCAAGAGGACTGGAAAAGTCTTCTAACAGACTGCTTTCCAAA
137853053	22099	NM_001172435.1(RAB3GAP1):c.1734G>A (p.Trp578Ter)	RAB3GAP1	Mar 01, 2005	MedGen:C1838625,OMIM:600118	Warburg micro syndrome 1	germline	2	135135743	GGGAGAGGTAGGAAAATCTTGGGATTCCTGGAGTGACAGCGAAGAAGAATTTTTTGAATGC
137852563	24844	NM_000044.4(AR):c.2157G>A (p.Trp719Ter)	AR	Jun 01, 1990	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711673	AGAGAGACAGCTTGTACACGTGGTCAAGTGGGCCAAGGCCTTGCCTGGTAAGGAAAAGGGA
587779420	106850	NM_000090.3(COL3A1):c.548G>A (p.Gly183Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988100	TCACATTCCAGGGCCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTC
80356714	26614	NM_004299.5(ABCB7):c.1300G>A (p.Glu434Lys)	ABCB7	Apr 07, 2009	MedGen:C1845028,OMIM:301310,Orphanet:ORPHA2802	Anemia sideroblastic and spinocerebellar ataxia	germline	X	75070433	CCCCTGAACTTTCTGGGAACTGTATATAGAGAGACTAGACAAGCACTCATAGATATGAACA
193922370	45215	NM_000249.3(MLH1):c.454-1G>A	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37008813	AATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACG
397515407	48198	NM_020822.2(KCNT1):c.1193G>A (p.Arg398Gln)	KCNT1	Jul 31, 2017	MedGen:C3554195,OMIM:614959;MedGen:C3554306,OMIM:615005;MedGen:C3554306,OMIM:615005;MedGen:CN517202	Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;Epilepsy, nocturnal frontal lobe, 5;not provided	germline	9	135765188	ACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCA
-1	480578	NM_023935.2(DDRGK1):c.408+1G>A	DDRGK1	Jan 10, 2018	MedGen:C1865185,OMIM:602557,Orphanet:ORPHA93352	Spondyloepimetaphyseal dysplasia Shohat type	germline	20	3200341	GAGAAACAAGCGCGAAAGGCCCAGCGTGAGGCAAGCCGGAGGGATGGGGTGCAGCTCTGGG
1064796332	408663	NM_001844.4(COL2A1):c.1330G>A (p.Gly444Ser)	COL2A1	Sep 21, 2017	MedGen:CN517202	not provided	germline	12	47987113	CCTGGGCCACGGGGCCCTCCTGGCCCTCAAGGTGCAACTGGTCCTCTGGGCCCGAAAGGTC
66656800	26049	NM_000531.5(OTC):c.386G>A (p.Arg129His)	OTC	Feb 01, 1995	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38381429	GTGTGAATGAAAGTCTCACGGACACGGCCCGGTTTGTAAATATTTTCTTCTCTCCAAAGCT
28941476	17304	NM_000101.3(CYBA):c.70G>A (p.Gly24Arg)	CYBA	Mar 01, 2000	MedGen:C1856255,OMIM:233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	16	88648103	GACCCACTTCTCCCCGCAGTCCTCATCACCGGGGGCATCGTGGCCACAGCTGGGCGCTTCA
121908836	21567	NM_003722.4(TP63):c.728G>A (p.Arg243Gln)	TP63	Oct 15, 1999	MedGen:C1858562,OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	germline	3	189864380	AAGCTGAGCACGTCACGGAGGTGGTGAAGCGGTGCCCCAACCATGAGCTGAGCCGTGAATT
-1	446660	NM_001193416.2(DDX3X):c.1769+1G>A	DDX3X	Sep 13, 2017	MedGen:CN517202	not provided	germline	X	41347013	CAAGGGTAGCAGTCGTGGACGTTCTAAGAGGTGAGGTATAAATAGTATATAATGAGGGGAA
724159960	171906	NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr)	IGHMBP2	Sep 23, 2015	MedGen:C4015349,OMIM:616155,Orphanet:ORPHA443073;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal, type 2S;not provided	germline	11	68934508	GTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGG
367543039	51238	NM_000057.3(BLM):c.2643G>A (p.Trp881Ter)	BLM	Mar 28, 2013	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006	Bloom syndrome	not provided	15	90782909	TAAAAAGGTGGCATTTGATTGCCTAGAATGGATCAGAAAGCACCACCCATGTGAGTACAGC
118204116	16517	NM_000190.3(HMBS):c.647G>A (p.Gly216Asp)	HMBS	Jul 01, 1997	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119092159	TGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGTACACTTGACCAGGGAAGCCACATG
28929488	32014	NM_001756.3(SERPINA6):c.1165G>A (p.Asp389Asn)	SERPINA6	Jan 01, 2007	MedGen:C1852529,OMIM:611489,Orphanet:ORPHA199247	Corticosteroid-binding globulin deficiency	germline	14	94304471	TTCAACCAGCCCTTCATCATCATGATCTTCGACCACTTCACCTGGAGCAGCCTTTTCCTGG
-1	468787	NM_015295.2(SMCHD1):c.1040+1G>A	SMCHD1	May 03, 2017	Gene:2490,MedGen:C1834671,OMIM:158901	Facioscapulohumeral muscular dystrophy 2	germline	18	2694694	TTATTTCCACCTTTGGACACGACAGTTAGCGTAAGTAATTATATTTGGCTTAGGAAATGTT
794727046	461685	NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)	MYBPC3	Feb 03, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Hypertrophic cardiomyopathy	germline	11	47346207	GGCATGAGGCGCGATGAGAAGAAGAGCACAGGTTAGCCCTTCCTCAGAGGGGAGAGGAGAG
80338923	17517	NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His)	SH3TC2	Oct 31, 2013	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949	Charcot-Marie-Tooth disease, type 4C	germline	5	149028146	AGAAGAGCCACATGACCTGGGCCCATGCCCGTCTCTGCTTCCTCCTGGGCCGGCTGAGCAT
886039368	259659	NM_000143.3(FH):c.1500G>A (p.Trp500Ter)	FH	Jan 17, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple cutaneous leiomyomas;not provided	germline	1	241497861	CTATCTCACAGCAGAGCAGTTTGACGAATGGGTAAAACCTAAGGACATGCTGGGTCCAAAG
121907937	19061	NM_000152.4(GAA):c.1561G>A (p.Glu521Lys)	GAA	Nov 20, 2014	MedGen:C0751173;MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease type II, infantile;Glycogen storage disease, type II	germline;unknown	17	80110950	CCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGG
128624218	26338	NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg)	ABCD1	Jun 02, 2015	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153726062	AACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGA
267606873	23914	NM_002181.3(IHH):c.383G>A (p.Arg128Gln)	IHH	Sep 01, 2009	Human Phenotype Ontology:HP:0009371,MedGen:C1862151,OMIM:112500,Orphanet:ORPHA93388	Type A1 brachydactyly	germline	2	219057627	TGATGAACCAGTGGCCCGGTGTGAAGCTGCGGGTGACCGAGGGCTGGGACGAGGACGGCCA
193922204	44739	NM_000138.4(FBN1):c.4460-8G>A	FBN1	Jul 14, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202;MedGen:CN169374	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	germline	15	48468542	CTCAGGTGATAACTCCACTACTCACTGTTCGGTTTTAGATGTGAATGAATGCCTGGATCCA
-1	485839	NM_000044.4(AR):c.2044G>A (p.Glu682Lys)	AR	Jul 08, 2015	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67711560	CCCATCTTTCTGAATGTCCTGGAAGCCATTGAGCCAGGTGTAGTGTGTGCTGGACACGACA
397514842	75721	NM_000368.4(TSC1):c.2041+1G>A	TSC1	Jun 15, 2015	MedGen:C1854465,OMIM:191100;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 1;Tuberous sclerosis syndrome	germline	9	132904410	GCAAGTCTGTCGACTGGACCCACTTTGGAGGTAAAGTTGTTACTTTAGCTCCAAATCCAGC
397514674	49909	NM_021939.3(FKBP10):c.337G>A (p.Glu113Lys)	FKBP10	Apr 02, 2013	Gene:50963,MedGen:C1850168,OMIM:259450	Bruck syndrome 1	germline	17	41817149	GACCGAGGCCTCATGGGCATGTGTGTCAACGAGCGGCGACGCCTCATTGTGCCTCCCCACC
886044900	274480	NM_000169.2(GLA):c.285G>A (p.Trp95Ter)	GLA	Aug 09, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101403895	TTATGAGTACCTCTGCATTGATGACTGTTGGATGGCTCCCCAAAGAGATTCAGAAGGCAGA
1057518572	360059	NM_130799.2(MEN1):c.913-1G>A	MEN1	Nov 29, 2016	MedGen:CN517202	not provided	germline	11	64806369	CCTGAGGATCCTCTGCCTCACCTCCATCCAGGGCATTGCCTCAGCCAAGACCTACTATCGG
121908987	21885	NM_016203.3(PRKAG2):c.905G>A (p.Arg302Gln)	PRKAG2	Aug 10, 2017	MedGen:C1833236,OMIM:600858;MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED CT:74390002;MedGen:CN517202	Familial hypertrophic cardiomyopathy 6;Glycogen storage disease of heart, lethal congenital;Primary familial hypertrophic cardiomyopathy;Wolff-Parkinson-White pattern;not provided	germline	7	151576412	CCTTCTTTGCTTTGGTAGCCAACGGTGTCCGAGCAGCGCCACTGTGGGAGAGTAAAAAACA
794727680	194695	NM_138694.3(PKHD1):c.7194G>A (p.Trp2398Ter)	PKHD1	Jun 11, 2014	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51885888	CACCACTCTGTTCCAGAGCTTCACAGTTTGGGAAAGTGCAGGTGGTGCCCAGGTAAGCTTT
121909542	33119	NM_001145.4(ANG):c.155G>A (p.Ser52Asn)	ANG	Dec 01, 2007	MedGen:C2678468,OMIM:611895	Amyotrophic lateral sclerosis type 9	germline	14	20693719	CACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACC
121918397	32904	NM_000041.3(APOE):c.488G>A (p.Arg163His)	APOE	Nov 01, 1990	MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005	Familial type 3 hyperlipoproteinemia	germline	19	44908784	TGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCT
879255105	246453	NM_000527.4(LDLR):c.1997G>A (p.Trp666Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120379	ACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGG
139729994	68418	NM_000492.3(CFTR):c.3468G>A (p.Leu1156=)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202;MedGen:CN169374	Cystic fibrosis;not provided;not specified	germline;unknown	7	117614713	TGTAAACTCCAGCATAGATGTGGATAGCTTGGTAAGTCTTATCATCTTTTTAACTTTTATG
786204832	187204	NM_002223.3(ITPR2):c.7492G>A (p.Gly2498Ser)	ITPR2	Apr 02, 2015	MedGen:C1862871,OMIM:106190,Orphanet:ORPHA468666	Anhidrosis, isolated, with normal sweat glands	germline	12	26400166	ACCGTGCTGAACCAGGGCCTCAGGAATGGCGGTGGTGTGGGGGATGTGCTAAGAAGGCCAT
752761437	264713	NM_000282.3(PCCA):c.1284+1G>A	PCCA	Jun 28, 2016	MedGen:CN517202	not provided	germline	13	100302999	CAGTACCAAGAACCGTTACATCTACCTGGTGTAAGTCATTAAGCTGTAATACCAGCTGAAG
755596256	239734	NM_001369.2(DNAH5):c.7034G>A (p.Trp2345Ter)	DNAH5	Jul 03, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13814801	TAATTCTTGATGGTCCAGTAGATGCCATCTGGATTGAAAATCTGAATTCTGTTTTGGATGA
794727183	191871	NM_018849.2(ABCB4):c.2211+1G>A	ABCB4	Apr 10, 2015	MedGen:C1865643,OMIM:602347,Orphanet:ORPHA79305	Progressive familial intrahepatic cholestasis 3	germline	7	87423905	TTTTCAGTCATATTCTCAGAGATCATAGCGGTAAGTTTGCAAACACCACATAACAGCCTGA
104894485	20214	NM_005477.2(HCN4):c.1657G>A (p.Asp553Asn)	HCN4	Jun 25, 2004	MedGen:C1834144,OMIM:163800	Sick sinus syndrome 2, autosomal dominant	germline	15	73325378	CTCCCGCCCGACACCCGGCAGCGCATCCACGACTACTACGAGCACCGCTACCAGGGCAAGA
587779536	106985	NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007912	CAGGGCCCTGCTGGTCAGCAGGGTGCAATCGGCAGTCCAGGACCTGCAGGCCCCAGAGTAA
879253828	224650	NM_000255.3(MUT):c.397G>A (p.Gly133Arg)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49458047	TTTTTCTTTATATATTTAGCTGGTCAGCAGGGATTATCAGTTGCCTTTGATCTGGCGACAC
28931612	31728	NM_130799.2(MEN1):c.76G>A (p.Glu26Lys)	MEN1	Apr 25, 2017	MedGen:C2675664;MedGen:CN517202	Parathyroid adenoma, somatic;not provided	germline;somatic	11	64810034	ATCGACGACGTGGTGCGCCTGTTTGCTGCCGAGCTGGGCCGAGAGGAGCCGGACCTGGTGC
118192247	34265	NM_004519.3(KCNQ3):c.895G>A (p.Glu299Lys)	KCNQ3	Apr 27, 2010	MedGen:C1852581,OMIM:121201	Benign familial neonatal seizures 2	not provided	8	132175491	GTGGATGCACAAGGAGAGGAGATGAAAGAGGAGTTTGAGACCTATGCAGATGCCCTGTGGT
104894875	25732	NM_000266.3(NDP):c.313G>A (p.Ala105Thr)	NDP	Oct 17, 1997	MedGen:C0266526,OMIM:310600,SNOMED CT:15228007	Atrophia bulborum hereditaria	germline	X	43949888	TGCTGCCGGCCCCAGACTTCCAAGCTGAAGGCACTGCGGCTGCGATGCTCAGGGGGCATGC
104886277	36074	NM_000495.4(COL4A5):c.4325G>A (p.Gly1442Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108687509	TAGGTACCCGTGGTTTGGATGGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCAGGTCC
786204976	187620	NM_003159.2(CDKL5):c.2046+1G>A	CDKL5	Jun 27, 2017	MedGen:CN128785;MedGen:C2748910,Orphanet:ORPHA3095;MedGen:C1839333,OMIM:300672	Angelman syndrome-like;Atypical Rett syndrome;Early infantile epileptic encephalopathy 2	de novo;germline	X	18608913	TCTTCCTTCCATACACGCCAGAAGTCTGAGGTATGTCACAATAAAATATGCCTGTAAACAT
386834228	70800	NM_000130.4(F5):c.5668G>A (p.Glu1890Lys)	F5	-	MedGen:CN517202	not provided	inherited	1	169525949	GGCTGGTGGCTCCTAAACACAGAGGTTGGAGAAAACCAGAGAGCAGGGATGCAAACGCCAT
886039323	259636	NM_000721.3(CACNA1E):c.1054G>A (p.Gly352Arg)	CACNA1E	Nov 28, 2016	MedGen:CN517202	not provided	germline	1	181651440	GTTCTCAACCTAGTCCTGGGAGTGCTTTCCGGGTGAGCCAGATGTTTCTCTCTTCTTAACT
727502818	172192	NM_001112741.1(KCNC1):c.959G>A (p.Arg320His)	KCNC1	May 02, 2017	MedGen:C4015420,OMIM:616187,Orphanet:ORPHA435438	Epilepsy, progressive myoclonic 7	germline	11	17772053	TGCGCGTCGTCCGCTTCGTGCGCATCTTGCGCATCTTTAAGCTGACCCGCCACTTTGTGGG
376607329	48992	NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln)	PTPN11	Aug 08, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C0041409,OMIM:163950;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202;MedGen:CN169374	Noonan syndrome;Noonan syndrome 1;Rasopathy;not provided;not specified	de novo;germline	12	112472981	AACAACAGGAGTGCAAACTTCTCTACAGCCGAAAAGAGGGTCAAAGGCAAGAAAACAAAAA
-1	429198	NM_000352.4(ABCC8):c.4450G>A (p.Gly1484Arg)	ABCC8	Feb 11, 2016	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline	11	17394361	ATCACAGAAGGCGGGGAGAATTTCAGCCAGGGACAGAGGCAGCTGTTCTGCCTGGCCCGGG
796053356	202291	NM_003165.3(STXBP1):c.569G>A (p.Arg190Gln)	STXBP1	Sep 09, 2016	MedGen:CN517202	not provided	germline	9	127663344	GTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGTAAGGCAGTGCACCAGTCTG
886041054	263624	NM_006578.3(GNB5):c.249G>A (p.Gln83=)	GNB5	Nov 09, 2016	MedGen:C4310682,OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	germline	15	52153940	AGATAAGAGGAGGATCGTGAGCTCGTCACAGGTATGTCACACCTGCTGCATAACAGGTGAG
142339351	190074	NM_001130698.1(TRPC3):c.2285G>A (p.Arg762His)	TRPC3	Feb 01, 2015	MedGen:C4225158,OMIM:616410,Orphanet:ORPHA458798	Spinocerebellar ataxia 41	germline	4	121903030	ATGACAGTGATGTAGAATGGAAGTTTGCTCGTTCAAAACTTTGGTTATCCTATTTTGATGA
121912872	32403	NM_001844.4(COL2A1):c.800G>A (p.Gly267Asp)	COL2A1	Jul 01, 2006	MedGen:C1836080,OMIM:609508	Stickler syndrome, type I, nonsyndromic ocular	germline	12	47994440	CTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGTAAACGCCACCGT
1057518897	360989	NM_000296.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1	Sep 29, 2016	Human Phenotype Ontology:HP:0000822,MedGen:C0497247;Human Phenotype Ontology:HP:0005562,MedGen:C0431718;MedGen:CN517202	Hypertension;Multiple renal cysts;not provided	germline;unknown	16	2103746	CGCATCCTCATGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGCGAGGAGA
794727666	194595	NM_004006.2(DMD):c.5868G>A (p.Trp1956Ter)	DMD	May 28, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Duchenne muscular dystrophy	germline	X	32342154	GCCAACTCAGATCCAGCTCAGCAAGCGCTGGCGGGAAATTGAGAGCAAATTTGCTCAGTTT
766021478	247469	NM_003394.3(WNT10B):c.786G>A (p.Trp262Ter)	WNT10B	Aug 16, 2016	MedGen:C4310730,OMIM:617073	Tooth agenesis, selective, 8	germline	12	48966479	ATCAGGCAGCTGCCAGTTCAAGACATGCTGGAGGGCGGCCCCAGAGTTCCGGGCAGTGGGG
121908217	23544	NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln)	CACNA1A	Sep 25, 2015	MedGen:C1832894,OMIM:141500;MedGen:C1832903;MedGen:C0752124,OMIM:183086,Orphanet:ORPHA98758;MedGen:CN517202	Familial hemiplegic migraine type 1;Migraine, sporadic hemiplegic;Spinocerebellar ataxia 6;not provided	germline	19	13308452	CTGGCACATCCTTTGGAATCAGCGTGTTACGAGCCCTCAGGTTATTGCGTATTTTCAAAGT
63749939	32145	NM_000249.3(MLH1):c.200G>A (p.Gly67Glu)	MLH1	Jun 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;not provided	germline;unknown	3	36996702	AGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCA
121912900	32278	NM_000089.3(COL1A2):c.2720G>A (p.Gly907Asp)	COL1A2	Feb 15, 1989	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	7	94425163	TTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGT
397509384	57808	NM_181523.2(PIK3R1):c.893G>A (p.Trp298Ter)	PIK3R1	Sep 02, 2014	MedGen:C3554689,OMIM:615214	Agammaglobulinemia 7, autosomal recessive	germline	5	68280983	AAGTTATAGAAATTTTAATCTCAACTGAATGGAATGAACGACAGCCTGCACCAGGTAATGC
398124625	102578	NM_213599.2(ANO5):c.41-1G>A	ANO5	Mar 30, 2017	MedGen:C1969785,OMIM:611307,Orphanet:ORPHA206549;MedGen:C2750076,OMIM:613319,Orphanet:ORPHA399096;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided	germline	11	22203803	AACATGTTTTTCTCTTTCTTATTTAATTTAGGGGAAAAAGTCAATAAGCATATAGACTACT
769458738	212497	NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His)	DNAH5	Aug 09, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13753489	CTTATTCTGGTCCATTTAACCAAGAGTTTCGTGATCTTCTGTTAAATGACTGGCGGAAGGA
104894779	26636	NM_178152.2(DCX):c.184G>A (p.Asp62Asn)	DCX	Jan 09, 1998	MedGen:C1848199,OMIM:300067,Orphanet:ORPHA2148;MedGen:C1848070	Lissencephaly, X-linked;Subcortical laminar heterotopia, X-linked	germline	X	111410215	GCCAAGAAGGTACGTTTCTACCGCAATGGGGACCGCTACTTCAAGGGGATTGTGTACGCTG
1060499797	389218	NM_013296.4(GPSM2):c.977G>A (p.Trp326Ter)	GPSM2	Jun 04, 2016	MedGen:CN206424,Orphanet:ORPHA90636	Autosomal recessive non-syndromic sensorineural deafness type DFNB	germline	1	108903149	GTTTTAGAATTGGTGAAGGAAGAGCATGTTGGAGCTTAGGAAATGCATACACAGCACTAGG
80338755	29773	NM_000213.4(ITGB4):c.182G>A (p.Cys61Tyr)	ITGB4	Jul 07, 2016	MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403;MedGen:CN517202	Epidermolysis bullosa junctionalis with pyloric atresia;not provided	germline	17	75727423	CTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGG
121434582	31124	NM_002860.3(ALDH18A1):c.251G>A (p.Arg84Gln)	ALDH18A1	Nov 22, 2000	MedGen:C0268354,OMIM:219150,Orphanet:ORPHA2962,SNOMED CT:238826008,SNOMED CT:59252009	Cutis laxa-corneal clouding-oligophrenia syndrome	germline	10	95643044	TGGTGAAGCTCGGCAGTGCCGTGGTGACCCGAGGGGATGAATGTGGCCTGGCCCTGGGGCG
63751022	95542	NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter)	MLH1	May 30, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I	germline	3	37050523	TGCCTGGCTCCATTCCAAACTCCTGGAAGTGGACTGTGGAACACATTGTCTATAAAGCCTT
267606966	18267	NM_013382.5(POMT2):c.737G>A (p.Gly246Asp)	POMT2	May 26, 2009	MedGen:C3150416,OMIM:613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	germline	14	77301169	TTGCTGGTGCTTTAGGGGTCAAGTTTGTTGGCCTCTTTATCATCCTTCAAGTGGGGCTGAA
387906475	25609	NM_000133.3(F9):c.79G>A (p.Glu27Lys)	F9	Apr 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139530843	ATCTGCCTTTTAGGATATCTACTCAGTGCTGAATGTACAGGTTTGTTTCCTTTTTTAAAAT
886041895	264627	NM_001844.4(COL2A1):c.1546G>A (p.Gly516Ser)	COL2A1	Jul 31, 2017	MedGen:CN517202	not provided	germline	12	47985947	GTGGCTCCTTAGGGTGCTCCCGGCAACCGCGGTTTCCCAGGTCAAGATGGTCTGGCAGGTC
137854481	31501	NM_000138.4(FBN1):c.3095G>A (p.Cys1032Tyr)	FBN1	Feb 28, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C4016054;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Marfan syndrome, neonatal;Thoracic aortic aneurysm and aortic dissection	germline	15	48488481	ATTTTCTTATTCTTGAAGATATCAATGAGTGCAAGATGATACCCAGCCTCTGCACCCACGG
397509420	75103	NM_152393.3(KLHL40):c.602G>A (p.Trp201Ter)	KLHL40	May 03, 2017	MedGen:C3809209,OMIM:615348	Nemaline myopathy 8	germline	3	42686220	AGGAGGCAGTGTTCGAGGCGGTGATGCGGTGGGCGGGTAGCGGCGACGCCGAGGCGCAGGC
864309536	215111	NM_001271.3(CHD2):c.1502+1G>A	CHD2	Sep 10, 2015	MedGen:C3809278,OMIM:615369	Epileptic encephalopathy, childhood-onset	germline	15	92949077	TCTAAACTGGCTAGCTCATTCCTGGTGCAAGTAGGTAGAAAAATATGAGTGCAATTTTCCT
121918097	28501	NM_000371.3(TTR):c.218G>A (p.Gly73Glu)	TTR	Jul 10, 2001	MedGen:C3151470	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	germline	18	31595137	TCACACCTTATAGGAAAACCAGTGAGTCTGGAGAGCTGCATGGGCTCACAACTGAGGAGGA
1064793002	404659	NM_015318.3(ARHGEF18):c.1143+5G>A	ARHGEF18	Apr 07, 2017	MedGen:CN241844,OMIM:617433	Retinitis pigmentosa 78	germline	19	7456408	ATCAGAAATACGTCTTTGCTTCTGTGGTATGTATCCTGTCTCTTCAGACGAAGGGTCGGCT
63750652	34357	NM_014043.3(CHMP2B):c.532-1G>A	CHMP2B	Oct 04, 2012	MedGen:C1833296,OMIM:600795	Frontotemporal Dementia, Chromosome 3-Linked	not provided	3	87253711	GCACGTTTGTCTTTTTCATTGTTTAATATAGATGGCCAAAGCTCCATCAGCTGCTCGAAGC
80338798	34193	NM_002880.3(RAF1):c.1456G>A (p.Asp486Asn)	RAF1	Nov 16, 2010	MedGen:C0175704,Orphanet:ORPHA500	Noonan syndrome with multiple lentigines	not provided	3	12585761	CTCCATGAAGGCTTAACAGTGAAAATTGGAGATTTTGGTTTGGCAACAGTAAAGTCACGCT
-1	481106	NM_014585.5(SLC40A1):c.1481G>A (p.Gly494Asp)	SLC40A1	May 14, 2012	MedGen:C1853733,OMIM:606069,Orphanet:ORPHA139491	Hemochromatosis type 4	germline	2	189562113	TAATTGAATCTGAAAGAGGCATTATAAATGGTGTACAGAACTCCATGAACTATCTTCTTGA
63750303	95813	NM_000249.3(MLH1):c.731G>A (p.Gly244Asp)	MLH1	Jun 16, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	3	37014485	AGGATAAAACCCTAGCCTTCAAAATGAATGGTTACATATCCAATGCAAACTACTCAGTGAA
137852249	25641	NM_000133.3(F9):c.881G>A (p.Arg294Gln)	F9	Mar 01, 1992	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561566	TTGAGGAGACAGAACATACAGAGCAAAAGCGAAATGTGATTCGAATTATTCCTCACCACAA
587777583	151138	NM_001167734.1(VARS2):c.1135G>A (p.Ala379Thr)	VARS2	Jul 02, 2014	MedGen:C4014660,OMIM:615917,Orphanet:ORPHA420728	Combined oxidative phosphorylation deficiency 20	germline	6	30918886	CCAGAGACGCTGCCTGGAGATGTGGCTGTGGCCGTTCATCCAGACGACTCGCGATACACAG
104894969	24786	NM_003140.2(SRY):c.192G>A (p.Met64Ile)	SRY	Nov 29, 1990	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787412	CAACGTCCAGGATAGAGTGAAGCGACCCATGAACGCATTCATCGTGTGGTCTCGCGATCAG
121908185	19531	NM_020451.2(SELENON):c.1397G>A (p.Arg466Gln)	SELENON	Apr 28, 2017	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002;MedGen:CN517202	Eichsfeld type congenital muscular dystrophy;not provided	germline	1	25813890	CCCTTCTGTCTTCCTGAACAGGTTCAGGGCGGACTCTCCGGGAGACTGTCCTGGAAAGTTC
1060501002	404289	NM_000166.5(GJB1):c.65G>A (p.Arg22Gln)	GJB1	Jul 17, 2017	MedGen:CN118851;MedGen:CN517202	Charcot-Marie-Tooth Neuropathy X;not provided	germline	X	71223772	GCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAG
1057520790	374412	NM_015272.4(RPGRIP1L):c.1700-1G>A	RPGRIP1L	Jun 23, 2015	MedGen:CN517202	not provided	germline	16	53652988	AAATCTCTAAACTGTGTGTCTTCTCTTGCAGCCCAATTAAAGGATATTGCCTATGGCACCA
104894751	25881	NM_000054.4(AVPR2):c.213G>A (p.Trp71Ter)	AVPR2	Sep 01, 1993	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153905719	CCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTG
397516077	51966	NM_000256.3(MYBPC3):c.821+5G>A	MYBPC3	Jan 01, 2016	MedGen:C1861862,OMIM:115197;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy	germline	11	47347852	GACCTCCTATCAGCCTTCCGCCGCACGTGAGTGGCCATCCTCAGGGCCTGGGGGAGGCCAG
886041817	264856	NM_000088.3(COL1A1):c.2119G>A (p.Gly707Ser)	COL1A1	Jun 06, 2016	MedGen:CN517202	not provided	germline	17	50191796	CGAGGGGCCAACGGTGCTCCCGGCAACGATGGTGCTAAGGTGAGGGCAGCGTGGAAGGGGC
863225273	214484	NM_198056.2(SCN5A):c.4772G>A (p.Trp1591Ter)	SCN5A	Jul 01, 2015	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005	Brugada syndrome	germline	3	38554320	CCCTGCGCCACTACTACTTCACCAACAGCTGGAATATCTTCGACTTCGTGGTTGTCATCCT
61752064	104816	NM_000330.3(RS1):c.288G>A (p.Trp96Ter)	RS1	Sep 07, 2017	MedGen:CN517202	not provided	germline	X	18647229	GGAGCAGTATGTGGGCTGGTATTCTTCGTGGACTGCAAACAAGGCCCGGCTCAACAGTCAA
58695352	409463	NM_001171.5(ABCC6):c.4081G>A (p.Asp1361Asn)	ABCC6	Aug 18, 2015	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16154755	CTGTTCCCTGGCTCTCTGCGGATGAACCTCGACCTGCTGCAGGAGCACTCGGACGAGGCTA
730882213	181459	NM_138422.3(ADAT3):c.430G>A (p.Val144Met)	ADAT3	May 05, 2017	MedGen:C3809039,OMIM:615286,Orphanet:ORPHA363528;MedGen:CN517202	Mental retardation, autosomal recessive 36;not provided	germline	19	1912477	CGCGGCCTGGGGCAACCCTTCCTGGTGCCCGTGCCCGCCCGGCCGCCTCTGACCAGGGGCC
786205704	188298	NM_032492.3(JAGN1):c.40G>A (p.Gly14Ser)	JAGN1	Jan 01, 2013	Human Phenotype Ontology:HP:0005541,MedGen:C1853118,Orphanet:ORPHA42738	Severe congenital neutropenia	germline	3	9890762	CGAGCAGGCCCGCGAGCGGCCGGCACCGACGGCAGCGACTTTCAGCACCGGGAGCGCGTCG
104895505	16624	NM_001127255.1(NLRP7):c.2471+1G>A	NLRP7	Mar 01, 2006	MedGen:C2931618,OMIM:231090,Orphanet:ORPHA254685	Hydatidiform mole	germline	19	54934488	ACGCCCAAAACACTTCCTGCAGATGTTGTCGTAAGTCTCCTCTTCCCATGGGCAGCTCTGG
397515965	51792	NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter)	MYBPC3	Jul 31, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47337539	GGAGCGCAAGAAGAAGAAGAGCTACCGGTGGATGCGGCTGAACTTCGACCTGATTCAGGAG
-1	472477	NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter)	MUTYH	Sep 06, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	45333453	TCACAGCCTTCCGAGGGAGCCTGCTAAGCTGGTACGACCAAGAGAAACGGGACCTACCATG
121918374	28229	NM_006907.3(PYCR1):c.797G>A (p.Arg266Gln)	PYCR1	Apr 12, 2017	MedGen:C2751987,OMIM:612940,Orphanet:ORPHA357064;MedGen:CN517202	Autosomal recessive cutis laxa type 2B;not provided	germline	17	81934326	ACGCTGTGGAGGCCTCCTGCATCCGCACACGGTGGGCCCCCGCGCTGCCCGCTTCCCTGGT
386352319	97393	NM_000890.3(KCNJ5):c.451G>A (p.Gly151Arg)	KCNJ5	Apr 23, 2017	MedGen:C4017656;MedGen:C3150933,OMIM:613677,Orphanet:ORPHA251274;MedGen:CN517202	Aldosterone-producing adrenal adenoma, somatic;Familial hyperaldosteronism type 3;not provided	somatic	11	128911724	CTGTTCTCCATTGAGACCGAAACAACCATTGGGTATGGCTTCCGAGTCATCACAGAGAAGT
-1	481871	NM_030751.5(ZEB1):c.3G>A (p.Met1Ile)	ZEB1	Apr 20, 2016	MedGen:CN517202	not provided	germline	10	31319237	CGAGCATTTAGACACAAGCGAGAGGATCATGGCGGATGGCCCCAGGTGTAAGCGCAGAAAG
587776615	20191	NM_020632.2(ATP6V0A4):c.1691+1G>A	ATP6V0A4	Sep 01, 2000	MedGen:C1864498,OMIM:602722,Orphanet:ORPHA402041	Renal tubular acidosis, distal, autosomal recessive	germline	7	138734135	CGGTGTCATCCTCAGCCTTTTCAATCACATGTAAGTTTCTTGATGCACTCTCTGCCTGCTC
397516675	176451	NM_001399.4(EDA):c.822G>A (p.Trp274Ter)	EDA	Aug 21, 2013	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468	Hypohidrotic ectodermal dysplasia	germline	X	70033426	AGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTT
104895301	48325	NM_000431.3(MVK):c.604G>A (p.Gly202Arg)	MVK	Apr 26, 2017	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:C1959626,OMIM:610377,Orphanet:ORPHA29;MedGen:C1867981,OMIM:175900	Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria;Porokeratosis, disseminated superficial actinic 1	not provided	12	109586098	GGGGAGAGAATGATTCACGGGAACCCCTCCGGAGTGGACAATGCTGTCAGCACCTGGGGTA
398123934	100483	NM_004006.2(DMD):c.3276+1G>A	DMD	Oct 13, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32464585	ATTCTAAAAAAGCAGCTGAAACAGTGCAGAGTAAGATTTTTATATGATGCCTTTAATATGA
772180415	222992	NM_000520.5(HEXA):c.964G>A (p.Asp322Asn)	HEXA	Oct 02, 2011	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72349101	TTCCCAGATTTTTATCTTCATCTTGGAGGAGATGAGGTTGATTTCACCTGCTGGTATGAGC
762773298	481667	NM_001298.2(CNGA3):c.513G>A (p.Trp171Ter)	CNGA3	Nov 28, 2017	MedGen:CN517202	not provided	germline	2	98389721	GGACCCGTCCAGCAACCTGTACTACCGCTGGCTGACCGCCATCGCCCTGCCTGTCTTCTAT
121918031	28617	NM_000301.3(PLG):c.1848G>A (p.Trp616Ter)	PLG	Aug 01, 1997	MedGen:C1968804,OMIM:217090,Orphanet:ORPHA722	Plasminogen deficiency, type I	germline	6	160738583	CTGTGGAGGCACCTTGATATCCCCAGAGTGGGTGTTGACTGCTGCCCACTGCTTGGAGAAG
66693137	103026	NM_000531.5(OTC):c.216+1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38367430	CTGAAATTTAGGATAAAACAGAAAGGAGAGGTATGTAACATTTTCTTTTTACGTTCCATTA
397508279	68023	NM_000492.3(CFTR):c.170G>A (p.Trp57Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117509039	GGTCCCACTTTTTATTCTTTTGCAGAGAATGGGATAGAGAGCTGGCTTCAAAGAAAAATCC
121912433	29793	NM_000454.4(SOD1):c.124G>A (p.Gly42Ser)	SOD1	Mar 04, 1993	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31663841	GTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTG
201304511	236723	NM_003052.4(SLC34A1):c.644+1G>A	SLC34A1	Oct 06, 2016	OMIM:616963	Hypercalcemia, infantile, 2	germline	5	177387874	GCAGGCGGGGGACAGGACTGACTTCCGGCGGTGAGGGGGGCTGGGGGTTGGGGGCTCGTGC
104894181	28751	NM_001083116.2(PRF1):c.1286G>A (p.Gly429Glu)	PRF1	Dec 03, 1999	MedGen:C1863727,OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	germline	10	70598435	TGACCTTCATCCAAGCATGGGGCCTGTGGGGGGACTGGTTCACTGCCACGGATGCCTATGT
587776433	165629	NC_012920.1:m.3481G>A	MT-ND1	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	MT	3481	TTCGCTGACGCCATAAAACTCTTCACCAAAGAGCCCCTAAAACCCGCCACATCTACCATCA
775924858	246116	NM_000527.4(LDLR):c.1358+1G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113450	GTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCC
397515775	51481	NM_000138.4(FBN1):c.2495G>A (p.Cys832Tyr)	FBN1	May 07, 2015	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48495513	AGAACAGCCCAGGCTCTTTTATTTGTGAATGTTCTTCTGAAAGTACTTTGGATCCAACAAA
794729231	198649	NM_000052.6(ATP7A):c.1947-1G>A	ATP7A	Mar 26, 2014	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78011448	GATTTTTCTTTTTTTATTTTTTCCATATAAGATGGAGACGGTCTTTTCTTGTGAGTCTGTT
398123208	98457	NM_000169.2(GLA):c.242G>A (p.Trp81Ter)	GLA	May 28, 2013	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline	X	101403938	AGATGGCAGAGCTCATGGTCTCAGAAGGCTGGAAGGATGCAGGTTATGAGTACCTCTGCAT
112406105	200333	NM_000018.3(ACADVL):c.1097G>A (p.Arg366His)	ACADVL	Jun 09, 2016	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202	Very long chain acyl-CoA dehydrogenase deficiency;not provided	germline;unknown	17	7223152	CCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTT
104894421	22714	NM_002312.3(LIG4):c.833G>A (p.Arg278His)	LIG4	Dec 01, 2001	MedGen:C1847827,OMIM:606593,Orphanet:ORPHA99812	Lig4 syndrome	germline	13	108210436	TCTACATAGAAACCAAGCTAGATGGTGAACGTATGCAAATGCACAAAGATGGAGATGTATA
137852465	25358	NM_000132.3(F8):c.6533G>A (p.Arg2178His)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154863124	TCCGTTTGCACCCAACTCATTATAGCATTCGCAGCACTCTTCGCATGGAGTTGATGGGCTG
797045166	205687	NM_006767.3(LZTR1):c.740G>A (p.Ser247Asn)	LZTR1	Jun 01, 2015	MedGen:C4225280,OMIM:616564	Noonan syndrome 10	germline	22	20990474	GGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCA
886037739	178838	NM_001145394.1(TSEN2):c.757G>A (p.Gly253Arg)	TSEN2	Jun 01, 2013	MedGen:C2676466,OMIM:612389	Pontocerebellar hypoplasia type 2B	germline	3	12516635	TTTCAGGCCTTTTTCTTGGTCTATGCTCTGGGATGTTTAAGTATTTACTATGAGAAGGTAA
-1	441953	NM_000458.3(HNF1B):c.344+1G>A	HNF1B	Dec 07, 2016	MedGen:CN517202	not provided	germline	17	37744540	GCAGCGGGCGGAGGTGGACCGGATGCTCAGGTAGGCGCAGAGCGAGGTGGAGGGGACCCAC
587784149	168222	NM_022455.4(NSD1):c.5432G>A (p.Arg1811Gln)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177269730	CTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTGACGTGAG
121908630	21070	NM_001128227.2(GNE):c.766G>A (p.Asp256Asn)	GNE	Sep 01, 2001	MedGen:C1853926,OMIM:605820	Nonaka myopathy	germline	9	36236928	ATTGTTGCACTACAGCACCCTGTGACCACTGACATTAAGCATTCCATAAAAATGTTTGAAT
45488893	58572	NM_000548.4(TSC2):c.648+1G>A	TSC2	Dec 04, 2013	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2056245	GTCCGGACCGCGTCCTCTGTGGACATAGAGGTCAGTGCCTCCCCTCCCCAGGGCCGGCCCA
63750798	426809	NM_001171.5(ABCC6):c.4182G>A (p.Lys1394=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154654	GGCCAGCCTGCCCGGCCAGCTGCAGTACAAGTGTGCTGACCGAGGCGAGGACCTGAGGTAT
794728708	196513	NM_001035.2(RYR2):c.527G>A (p.Arg176Gln)	RYR2	Mar 21, 2017	MedGen:C1631597,Orphanet:ORPHA3286;MedGen:C4053736,OMIM:604772;MedGen:CN517202	Catecholaminergic polymorphic ventricular tachycardia;Catecholaminergic polymorphic ventricular tachycardia type 1;not provided	germline	1	237377386	CTAAGCAGCGATCAGAAGGAGAAAAAGTACGAGTTGGAGATGACCTCATCTTAGTTAGCGT
80357219	70211	NM_007294.3(BRCA1):c.5345G>A (p.Trp1782Ter)	BRCA1	Jan 27, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	17	43049182	TCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGT
104886191	35886	NM_000495.4(COL4A5):c.2624G>A (p.Gly875Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108620373	CAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAA
5030852	15638	NM_000277.2(PAH):c.842+1G>A	PAH	Jul 24, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852814	TGGATCCAAGCCCATGTATACCCCCGAACCGTGAGTACTGTCCTCCAGCTACCAGTTGCCA
886041377	264582	NM_024570.3(RNASEH2B):c.3G>A (p.Met1Ile)	RNASEH2B	May 16, 2016	MedGen:CN517202	not provided	germline	13	50910079	CTGCGGCGCCCCGGAAGAGGCGGGCGGCATGGCCGCTGGCGTGGACTGCGGGGACGGGGTT
397515323	75256	NM_005391.4(PDK3):c.473G>A (p.Arg158His)	PDK3	Apr 01, 2013	MedGen:C3806702,OMIM:300905,Orphanet:ORPHA352675	Charcot-Marie-Tooth disease, X-linked dominant, 6	germline	X	24503479	AATATTTTCTGGATCGGTTTTATACCAACCGCATCTCTTTCCGCATGCTTATTAATCAGCA
397515451	75129	NM_138638.4(CFL2):c.19G>A (p.Val7Met)	CFL2	Jul 01, 2012	MedGen:C1853154,OMIM:610687	Nemaline myopathy 7	germline	14	34713546	TGTGTTTATTTTCAGGCTTCTGGAGTTACAGTGAATGATGAAGTCATCAAAGTTTTTAATG
879254955	434304	NM_000527.4(LDLR):c.1603G>A (p.Asp535Asn)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116110	TGTCCTCCCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAG
62637014	20604	NM_014336.4(AIPL1):c.834G>A (p.Trp278Ter)	AIPL1	Jun 14, 2016	MedGen:CN239169;MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;MedGen:C1858386,OMIM:604393;MedGen:CN517202	AIPL1-Related Disorders;Leber congenital amaurosis;Leber congenital amaurosis 4;not provided	germline;unknown	17	6425781	CGTGCGTGCCCGGGCTCACGCAGAGGTGTGGAATGAGGCCGAGGCCAAGGCGGACCTCCAG
879254554	245603	NM_000527.4(LDLR):c.514G>A (p.Asp172Asn)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105420	CCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGC
104894812	25472	NM_000166.5(GJB1):c.415G>A (p.Val139Met)	GJB1	Jul 28, 2017	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy	germline	X	71224122	GGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCT
794728931	196905	NM_198056.2(SCN5A):c.3575G>A (p.Trp1192Ter)	SCN5A	Sep 05, 2014	MedGen:CN517202	not provided	germline	3	38575388	ACACCACACAGGCCCCAGGGAAGGTCTGGTGGCGGTTGCGCAAGACCTGCTACCACATCGT
786205118	39913	NM_005198.4(CHKB):c.677+1G>A	CHKB	Jun 10, 2011	MedGen:C1865233,OMIM:602541,Orphanet:ORPHA280671	Muscular dystrophy, congenital, megaconial type	germline	22	50580564	CAGCCTGAAGGATGAGATGGGCAACCTCAGGTGAGGGCAGGCAGGACAAGGCTAATGGTAA
886044582	275146	NM_004006.2(DMD):c.358-1G>A	DMD	Sep 19, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009	Becker muscular dystrophy	germline	X	32816641	TTTTCTTATGAAAATTTATTTCCACATGTAGGTCAAAAATGTAATGAAAAATATCATGGCT
1057517809	359852	NM_000314.6(PTEN):c.1027-1G>A	PTEN	Dec 05, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	10	87965286	TGGGTTTTCATTTTAAATTTTCTTTCTCTAGGTGAAGCTGTACTTCACAAAAACAGTAGAG
781444670	194786	NM_000071.2(CBS):c.374G>A (p.Arg125Gln)	CBS	Jul 11, 2017	MedGen:C3150344,OMIM:236200	Homocystinuria due to CBS deficiency	germline	21	43066320	GCGGGAGCGTGAAGGACCGCATCAGCCTGCGGATGATTGAGGATGCTGAGCGCGACGGGAC
878853159	237519	NM_004924.5(ACTN4):c.584G>A (p.Gly195Asp)	ACTN4	Feb 08, 2017	MedGen:C0333497,OMIM:603278	Focal segmental glomerulosclerosis 1	germline	19	38708128	TTTGCCTTTCCTTCCCCAGCTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCA
886041163	264364	NM_017780.3(CHD7):c.434G>A (p.Trp145Ter)	CHD7	Jun 06, 2016	MedGen:CN517202	not provided	germline	8	60741866	GGCAATCCTTTGTGGACAGCAGCTCCATGTGGGGCCCCAGGGCTGTTCAGGTACCAGACCA
869312837	226544	NM_003664.4(AP3B1):c.716G>A (p.Trp239Ter)	AP3B1	Jan 01, 2016	MedGen:C1842362,OMIM:608233,Orphanet:ORPHA183678	Hermansky Pudlak syndrome 2	germline	5	78216125	TATGTAACTTACTAGTGGATGTTGAAGAGTGGGGGCAGGTTGTCATAATCCACATGCTAAC
879255592	227006	NM_130837.2(OPA1):c.1817G>A (p.Cys606Tyr)	OPA1	Aug 18, 2016	MedGen:C1852267,OMIM:125250,Orphanet:ORPHA1215	Autosomal dominant optic atrophy plus syndrome	germline	3	193647127	CAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGA
58606740	264213	NM_000297.3(PKD2):c.1094+1G>A	PKD2	Sep 30, 2016	MedGen:CN517202	not provided	germline	4	88038502	GGCTCCCTTTGGGCCCCGAAATGGAACCGCGTAAGTGTCTGTGACTCATTGCCACTCGGTG
-1	429634	NM_000275.2(OCA2):c.2080-1G>A	OCA2	Jan 12, 2017	MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006	Tyrosinase-positive oculocutaneous albinism	germline	15	27871923	ACTGATTCTCACCACACATCCTTTCTTCTAGGCATTGGCACATCTCCACTTAATAGAATAT
587779541	107123	NM_000090.3(COL3A1):c.2285G>A (p.Gly762Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189001398	AAATTAAAAAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCC
121909342	23440	NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser)	DCTN1	Sep 30, 2010	MedGen:C1843315,OMIM:607641	Distal hereditary motor neuronopathy type 7B	germline	2	74378104	GCCACACTGTTTGCCACTGGCAAATGGGTAGGCGTGATTCTGGATGAAGCAAAGGGCAAAA
1085307126	413913	NM_001195.4(BFSP1):c.1042G>A (p.Asp348Asn)	BFSP1	May 09, 2017	MedGen:C3808107,OMIM:611391	Cataract 33, multiple types	germline	20	17496938	GTCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACGCTCCCCAACACTGGACTTCTGTTT
121908104	19289	NM_001080467.2(MYO5B):c.1125G>A (p.Trp375Ter)	MYO5B	Oct 01, 2008	MedGen:C0341306,OMIM:251850,Orphanet:ORPHA2290,SNOMED CT:235729009	Congenital microvillous atrophy	germline	18	49974547	AGGGGTGGAGCACAGTCAGATGGAGCACTGGCTGTGTCATCGCAAGCTGGTCACCACCTCG
796052212	196428	NM_014176.3(UBE2T):c.179+5G>A	UBE2T	Jun 04, 2015	MedGen:C4084840,OMIM:616435	Fanconi anemia, complementation group T	germline	1	202334984	AAGCTAGAAGTTATCATTCCTGAGAGGTTAGTATGAATCAGCTTCTCAACCTACATGGTGA
80359149	67384	NM_000059.3(BRCA2):c.8970G>A (p.Trp2990Ter)	BRCA2	May 26, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32379766	CTTTCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTA
587784332	379852	NM_003560.3(PLA2G6):c.1501G>A (p.Glu501Lys)	PLA2G6	Jun 04, 2015	MedGen:CN517202	not provided	germline	22	38123185	CTCATCATCATCCAGCTCCTCATCGCCATCGAGAAGGCCTCGGGTGTGGCCACCAAGGACC
121908792	57842	NM_000492.3(CFTR):c.274-1G>A	CFTR	Apr 24, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN517202	Cystic fibrosis;Hereditary pancreatitis;not provided	de novo;germline;unknown	7	117530898	ATTTAATTTCTCTGTTTTTCCCCTTTTGTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTA
189115557	195238	NM_000404.3(GLB1):c.602G>A (p.Arg201His)	GLB1	Jul 05, 2017	MedGen:CN169666;MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002;MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004;MedGen:CN517202	GLB1-Related Disorders;GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;not provided	germline	3	33058220	GCTACTTTGCCTGTGATTTTGACTACCTGCGCTTCCTGCAGAAGCGCTTTCGCCACCATCT
121912607	17031	NM_182896.2(ARL13B):c.246G>A (p.Trp82Ter)	ARL13B	Feb 23, 2015	MedGen:C2676771,OMIM:612291	Joubert syndrome 8	germline;unknown	3	94003774	GGGAGGTGGAATAAGAATTCGGGGAATCTGGAAGAATTACTATGCTGAATCCTATGGGGTA
193302867	47614	NM_016938.4(EFEMP2):c.376G>A (p.Glu126Lys)	EFEMP2	Jan 11, 2016	MedGen:C3280798,OMIM:614437;MedGen:CN033664,OMIM:219100	Autosomal recessive cutis laxa type 1B;Autosomal recessive cutis laxa type IA	germline	11	65870650	GGCTGAGTGGTGTCTCTCGCAGATGTGGACGAGTGTGCCCAGGCCCTGCACGACTGTCGCC
-1	470574	NM_000033.3(ABCD1):c.1772G>A (p.Arg591Gln)	ABCD1	Jul 14, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153740711	ACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAG
1131691052	432027	NM_003000.2(SDHB):c.642+1G>A	SDHB	-	MedGen:C1708353,Orphanet:ORPHA29072	Hereditary Paraganglioma-Pheochromocytoma Syndromes	germline	1	17023972	AAATATCTGGGGCCTGCAGTTCTTATGCAGGTGAGGTGCTCCTTAATTGCTTTAAGAGAAA
794727026	191012	NM_001844.4(COL2A1):c.762+1G>A	COL2A1	Jan 21, 2015	MedGen:C2020284,OMIM:108300	Stickler syndrome type 1	germline	12	47995254	CCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGC
63750457	360154	NM_001171.5(ABCC6):c.3491G>A (p.Arg1164Gln)	ABCC6	Sep 30, 2016	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16163008	TAGATGAAAGCCAGAGGATCAGTTTCCCGCGACTGGTGGCTGACAGGTAGGAAGAGCCAGG
863225264	214480	NM_004958.3(MTOR):c.5395G>A (p.Glu1799Lys)	MTOR	Jan 09, 2017	MedGen:C4225259,OMIM:616638,Orphanet:ORPHA457485;MedGen:CN517202	Smith-Kingsmore syndrome;not provided	germline	1	11130747	GCCTGGCATGCGTGGGCAGTGATGAACTTCGAAGCTGTGCTACACTACAAACATCAGAACC
5030859	15651	NM_000277.2(PAH):c.1223G>A (p.Arg408Gln)	PAH	Mar 15, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102840492	GTCTTAGGAACTTTGCTGCCACAATACCTCGGCCCTTCTCAGTTCGCTACGACCCATACAC
121434397	21186	NM_001166292.1(PTCH2):c.2156G>A (p.Arg719Gln)	PTCH2	May 01, 2008	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	germline	1	44827617	ACGGCCTGGCCCTGACGGATGTGGTGCCTCGGGGCACCAAGGAGCATGCCTTCCTGAGCGC
199472756	67820	NM_000218.2(KCNQ1):c.973G>A (p.Gly325Arg)	KCNQ1	Jul 07, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2583486	TATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCT
797044845	204409	NM_000530.7(MPZ):c.181G>A (p.Asp61Asn)	MPZ	Mar 26, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161307311	TCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCG
121918578	28151	NM_000440.2(PDE6A):c.1683G>A (p.Trp561Ter)	PDE6A	Dec 01, 1995	MedGen:C3151139,OMIM:613810	Retinitis pigmentosa 43	germline	5	149895228	GGGCTACCGCAAGATCACCTACCACAACTGGCGGCACGGCTTCAACGTGGGGCAGACCATG
28989182	21803	NM_001211.5(BUB1B):c.2441G>A (p.Arg814His)	BUB1B	Jul 27, 2015	MedGen:CN031748,OMIM:257300;MedGen:C1864389,OMIM:176430	Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait	germline	15	40212554	ACTTTTATATCAACCTCAAGTTAAAGGAACGTTTAAATGAAGATTTTGATCATTTTTGCAG
372949028	205386	NM_152906.6(TANGO2):c.605+1G>A	TANGO2	Apr 13, 2017	MedGen:CN232560;MedGen:C0003811,OMIM:115000;MedGen:CN232559;MedGen:C0025362,SNOMED CT:228156007,SNOMED CT:91138005;MedGen:CN232558;MedGen:C4225171,OMIM:616878	Acute rhabdomyolysis;Cardiac arrhythmia;Episodic flaccid weakness;Intellectual functioning disability;Seizures;TANGO2-Related Metabolic Encephalopathy and Arrhythmias	germline	22	20061684	CCTCCTGGATGTGCTCAACAATGAAGAGGCGTGAGTGGGCGGGTCCTGCTGGGGTGAGCCC
-1	433168	NM_000296.3(PKD1):c.11153G>A (p.Arg3718Gln)	PKD1	Oct 03, 2016	MedGen:CN169374	not specified	germline	16	2092954	TGCACAGCCGGGCCTTCCTGGCCATCACGCGGTACGGGCATCCGGTGCACTGGTCTGTCTT
121917833	27140	NM_000196.3(HSD11B2):c.667G>A (p.Asp223Asn)	HSD11B2	Jun 01, 2003	MedGen:C2936861,OMIM:218030	Apparent mineralocorticoid excess	germline	16	67436251	AGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATG
772823083	414993	NM_024577.3(SH3TC2):c.3676-8G>A	SH3TC2	Apr 13, 2017	MedGen:CN517202	not provided	germline	5	149004910	AATGCTGTCTCTTCTTTGCCCCCATACCACGGGGTTAGGATGCCCATGATGCCACTGAGTA
397514669	49835	NM_013319.2(UBIAD1):c.530G>A (p.Gly177Glu)	UBIAD1	Feb 01, 2013	Human Phenotype Ontology:HP:0007760,MedGen:C0271287,OMIM:121800,Orphanet:ORPHA98967,SNOMED CT:39662004,SNOMED CT:419395007	Schnyder crystalline corneal dystrophy	germline	1	11285644	ACACCAACTCTCTGGATTTTCTGGCCGCAGGAATTGGATTCAAGTACGTGGCTCTGGGAGA
370290043	264217	NM_022464.4(SIL1):c.1030-9G>A	SIL1	Mar 30, 2016	MedGen:CN517202	not provided	germline	5	138947482	CCCCCACCCTACCTGGCCTGCGGCTGTGGCGGATGGCAGATGTTCGCCGAGGAGGAGGCTG
587779634	107112	NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188997364	AGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAG
761477436	224639	NM_000255.3(MUT):c.850G>A (p.Gly284Arg)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49456141	ATTCTGGAGCTGGCCTATACTTTAGCAGATGGATTGGAGTACTCTAGAACTGGACTCCAGG
150739647	79585	NM_000448.2(RAG1):c.2924G>A (p.Arg975Gln)	RAG1	Sep 26, 2017	MedGen:CN517202	not provided	germline	11	36576228	AGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTA
74315305	23463	NM_000396.3(CTSK):c.236G>A (p.Gly79Glu)	CTSK	Oct 01, 1999	MedGen:C0238402,OMIM:265800,Orphanet:ORPHA763,SNOMED CT:89647000	Pyknodysostosis	germline	1	150806109	ATACATATGAACTGGCTATGAACCACCTGGGGGACATGGCAAGTATAGCTTCAGCTCCTGT
80357284	46214	NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter)	BRCA1	Jun 09, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43049181	CTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTG
370717845	247363	NM_152419.2(HGSNAT):c.518G>A (p.Gly173Asp)	HGSNAT	Aug 03, 2016	MedGen:C0086649,OMIM:252930,Orphanet:ORPHA79271,SNOMED CT:75238000	Mucopolysaccharidosis, MPS-III-C	inherited;not applicable	8	43161462	TTCTAGCTGTGAGCATTGCATTCCTTATTGGTCTTGCTGTCATCATTGTGATATCCTTTCT
104894871	25722	NM_000266.3(NDP):c.287G>A (p.Cys96Tyr)	NDP	Oct 01, 1992	MedGen:C0266526,OMIM:310600,SNOMED CT:15228007	Atrophia bulborum hereditaria	germline	X	43949914	AGCAACCCTTCCGTTCCTCCTGTCACTGCTGCCGGCCCCAGACTTCCAAGCTGAAGGCACT
730880597	179184	NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter)	MYBPC3	Nov 13, 2015	MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47332245	CTTTACCTTATTTATAGCCCAAGATTTCCTGGTTCAAGAATGGCCTGGACCTGGGAGAAGA
879254867	246105	NM_000527.4(LDLR):c.1329G>A (p.Trp443Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113420	CACGGAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGG
80359211	46791	NM_000059.3(BRCA2):c.9380G>A (p.Trp3127Ter)	BRCA2	Mar 07, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	germline	13	32394812	ATATGTTAATTGCTGCAAGCAACCTCCAGTGGCGACCAGAATCCAAATCAGGCCTTCTTAC
387906882	39364	NM_006790.2(MYOT):c.17G>A (p.Arg6His)	MYOT	Aug 01, 2011	MedGen:C1834659,OMIM:159000,Orphanet:ORPHA266	Limb-girdle muscular dystrophy, type 1A	germline	5	137870668	TATACCAACTAAGCATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCC
104886173	35847	NM_000495.4(COL4A5):c.2315G>A (p.Gly772Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108606812	CAGGACTTCCAGGTTTCAAAGGAGCACTTGGTCCAAAAGGTGATCGTGGTTTCCCAGGACC
387906618	38627	NM_004415.3(DSP):c.7097G>A (p.Arg2366His)	DSP	Jul 01, 2011	MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165	Skin fragility woolly hair syndrome	germline	6	7584359	AGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGG
137853862	34119	NM_001129765.1(NSDHL):c.370G>A (p.Gly124Ser)	NSDHL	Feb 01, 2011	MedGen:C0265267,OMIM:308050,Orphanet:ORPHA139,SNOMED CT:17608003	Child syndrome	not provided	X	152858872	AAGGAGCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAG
1114167287	243984	NM_000521.3(HEXB):c.170G>A (p.Trp57Ter)	HEXB	Jan 10, 2016	MedGen:C0036161,OMIM:268800,Orphanet:ORPHA796,SNOMED CT:23849003	Sandhoff disease	inherited	5	74685430	GCGTCTCGGCCAAGCCGGGGCCGGCGCTGTGGCCCCTGCCGCTCTTGGTGAAGATGACCCC
886039915	260979	NM_001273.3(CHD4):c.3203G>A (p.Arg1068His)	CHD4	Jan 24, 2017	MedGen:C4310688,OMIM:617159	Sifrim-Hitz-Weiss syndrome	germline	12	6591713	TGCTCAAGAACCTTAAGGAGGGTGGGCATCGTGTACTCATCTTTTCCCAGGTATCATGTGG
747539101	264981	NM_016327.2(UPB1):c.873+1G>A	UPB1	Jul 08, 2016	MedGen:CN517202	not provided	germline	22	24520469	TTCACCTGCGCCATCAATCGAGTGGGCACCGTAAGTCCCGAGGTCTGGCTGGGGAGAGGAG
774877657	247459	NM_020812.3(DOCK6):c.3154G>A (p.Glu1052Lys)	DOCK6	Aug 11, 2016	MedGen:C3280182,OMIM:614219	Adams-Oliver syndrome 2	germline	19	11222821	ATGGAATTCACCCGCATCCTGTGCAGCCACGAGCACTACGTGACCCTCAACCTCCCCTGCT
140614802	244107	NM_152328.4(ADSSL1):c.781G>A (p.Asp261Asn)	ADSSL1	Jul 15, 2016	MedGen:C4310754,OMIM:617030	Myopathy, distal, 5	germline	14	104741231	CTGGTGGAGGGTGCCAACGCCGCCCTCCTCGACATTGACTTCGGTATGTCCGGGAGGGTGT
104886261	36019	NM_000495.4(COL4A5):c.3731G>A (p.Gly1244Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668445	AGGGTCCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC
397515373	22744	NM_005259.2(MSTN):c.373+5G>A	MSTN	Jul 03, 2013	MedGen:C0236033,OMIM:614160	Muscle hypertrophy	germline	2	190062219	AACAATCATTACCATGCCTACAGAGTGTAAGTAGTCCTATTAGTGTATATCAACAGTTCTG
-1	442313	NM_000383.3(AIRE):c.1365G>A (p.Trp455Ter)	AIRE	Oct 25, 2016	MedGen:CN517202	not provided	germline	21	44293875	GTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGG
119103233	17206	NM_007214.4(SEC63):c.173G>A (p.Trp58Ter)	SEC63	Jun 01, 2004	MedGen:C4310769,OMIM:617004	Polycystic liver disease 2	germline	6	107929466	ATATCAGAAAAGTATATGGAAGGTGTATGTGGTATCGTTTACGGTTATTAAAACCCCAGCC
-1	432185	NM_000444.5(PHEX):c.1965+1G>A	PHEX	Jun 12, 2017	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22226509	GATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAA
1057520660	365260	NM_001128425.1(MUTYH):c.463-1G>A	MUTYH	May 11, 2017	MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202	MYH-associated polyposis;not provided	germline	1	45332960	CTTGTCTCTTTCTGCCTGCCTGTGGCTATAGAAGTGGCCTACACTGCAGGACCTGGCCAGT
121912519	29424	NM_000233.3(LHCGR):c.1713G>A (p.Met571Ile)	LHCGR	Feb 01, 1995	MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED CT:237818003	Gonadotropin-independent familial sexual precocity	germline	2	48688084	CAATAAAGATACAAAGATTGCTAAGAAAATGGCAATCCTCATCTTCACCGATTTCACCTGC
1064794284	410426	NM_001128849.1(SMARCA4):c.2654G>A (p.Arg885His)	SMARCA4	Feb 16, 2017	MedGen:CN517202	not provided	germline	19	11021762	GGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCA
122461161	26520	NM_014271.3(IL1RAPL1):c.1460G>A (p.Trp487Ter)	IL1RAPL1	Mar 01, 2006	MedGen:C0796227,OMIM:300143	Mental retardation 21, X-linked	germline	X	29955189	TGACCCCAAATTACGTAGTTAGAAGGGGCTGGAGCATCTTTGAGCTGGAAACCAGACTTCG
786204831	187203	NM_003047.4(SLC9A1):c.913G>A (p.Gly305Arg)	SLC9A1	Apr 02, 2015	MedGen:C4225383,OMIM:616291,Orphanet:ORPHA448251	Lichtenstein-knorr syndrome	germline	1	27109678	TTCCTGAGCTTCTTCGTGGTGGCCCTGGGCGGGGTGCTTGTGGGCGTGGTCTACGGGGTCA
387907032	39816	NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=)	LRSAM1	Aug 26, 2010	Gene:431712,MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319	Charcot-Marie-Tooth disease type 2P	germline	9	127501011	GGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACC
886039788	260549	NM_012343.3(NNT):c.598G>A (p.Gly200Ser)	NNT	Oct 11, 2016	na	GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY	germline	5	43616064	GATGCGCTAAGCTCCATGGCCAACATTGCGGGGTAGGTTCTTTTCCATTTCAATTGAACAA
63750978	406263	NM_000249.3(MLH1):c.2142G>A (p.Trp714Ter)	MLH1	Jul 03, 2017	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	3	37050524	GCCTGGCTCCATTCCAAACTCCTGGAAGTGGACTGTGGAACACATTGTCTATAAAGCCTTG
762826555	188878	NM_178170.2(NEK8):c.1401G>A (p.Trp467Ter)	NEK8	Feb 14, 2018	MedGen:C3809434,OMIM:615415;MedGen:CN517202	Renal-hepatic-pancreatic dysplasia 2;not provided	germline	17	28739185	CCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCT
104893721	20965	NM_006580.3(CLDN16):c.715G>A (p.Gly239Arg)	CLDN16	Jun 01, 2000	MedGen:C0268448,OMIM:248250,Orphanet:ORPHA31043,SNOMED CT:80710001	Primary hypomagnesemia	germline	3	190408436	CAATATAAATTTGGTTGGTCCTGTTGGCTCGGAATGGCTGGGTCTCTGGGTTGCTTTTTGG
745750156	359179	NM_032171.2(CEP78):c.1254+5G>A	CEP78	May 18, 2017	MedGen:C4310657,OMIM:617236	Cone-rod dystrophy and hearing loss	germline	9	78253282	CACGTGATATATGTAATCAGTTGCAGGTACGTAGTTACCATGTTTATAATATGTAGGGGAT
1131691763	422366	NM_000211.4(ITGB2):c.741+1G>A	ITGB2	Nov 13, 2015	MedGen:CN517202	not provided	germline	21	44901491	GACGCCATGATGCAGGTCGCCGCCTGCCCGGTGAGGCCGCTGCCCCTGCTTGGGTCCCCAC
1060500355	401871	NM_000267.3(NF1):c.6858+1G>A	NF1	Feb 02, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31338806	CTAACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCA
193922818	136954	NM_000540.2(RYR1):c.7523G>A (p.Arg2508His)	RYR1	Mar 29, 2017	MedGen:CN239331;MedGen:CN517202	RYR1-Related Disorders;not provided	germline;unknown	19	38500899	ACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTT
104894410	32073	NM_004004.5(GJB2):c.175G>A (p.Gly59Ser)	GJB2	Jul 30, 2005	MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED CT:1271009	Knuckle pads, deafness AND leukonychia syndrome	germline	13	20189407	GCCGACTTTGTCTGCAACACCCTGCAGCCAGGCTGCAAGAACGTGTGCTACGATCACTACT
74315479	18123	NM_000487.5(ARSA):c.1150G>A (p.Glu384Lys)	ARSA	Apr 18, 2013	MedGen:C4017096;MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Arylsulfatase a pseudodeficiency, intermediate;Metachromatic leukodystrophy	germline	22	50625639	TCTCTCTTCTTCTACCCGTCCTACCCAGACGAGGTCCGTGGGGTTTTTGCTGTGCGGACTG
387907287	45790	NM_004984.3(KIF5A):c.611G>A (p.Arg204Gln)	KIF5A	Jun 24, 2016	MedGen:C0037772;MedGen:C1858712,OMIM:604187,Orphanet:ORPHA100991	Spastic paraplegia;Spastic paraplegia 10	germline	12	57567515	CTCCTGCAGACATGAATGAACACAGCTCTCGGAGCCACAGCATCTTCCTCATCAACATCAA
121908127	19494	NM_004937.2(CTNS):c.1015G>A (p.Gly339Arg)	CTNS	Sep 09, 2016	MedGen:C0010690,OMIM:219800	Nephropathic cystinosis	germline;unknown	17	3660280	ATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCT
-1	429977	NM_004247.3(EFTUD2):c.2198G>A (p.Trp733Ter)	EFTUD2	Jan 21, 2016	MedGen:C1864652,OMIM:610536,Orphanet:ORPHA79113	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	germline	17	44854617	ATTGGGATCTGCTGGCTGCCCGTTCCATCTGGGCTTTTGGCCCTGATGCGACTGGCCCCAA
1057517684	359137	NM_207421.4(PADI6):c.1618G>A (p.Gly540Arg)	PADI6	Dec 02, 2016	MedGen:C4310659,OMIM:617234	Preimplantation embryonic lethality 2	germline	1	17395663	GAGCTTAGAGCAGATCAGCTCCTGTCTAATGGTAAGGGAACTCCCTTTCCACAGAACAGAA
371265106	98286	NM_000050.4(ASS1):c.836G>A (p.Arg279Gln)	ASS1	Jun 01, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline;unknown	9	130480447	TGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCC
80338820	18097	NM_000487.5(ARSA):c.1210+1G>A	ARSA	Jan 24, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C0751276,Orphanet:ORPHA309263,SNOMED CT:44359008	Metachromatic leukodystrophy;Metachromatic leukodystrophy, juvenile type	germline;unknown	22	50625578	GAAAGTACAAGGCTCACTTCTTCACCCAGGGTAACCCCTCCCCGTGGATCCCTCCCCCCGA
771507094	214433	NM_004366.5(CLCN2):c.1412G>A (p.Arg471His)	CLCN2	Sep 09, 2015	MedGen:C3810242,OMIM:615651,Orphanet:ORPHA363540	Leukoencephalopathy with ataxia	germline	3	184354643	CCCCCCTCCCTGAAGGAGCAGCATTTGGGCGTCTGGTGGGTGAAAGCATGGCTGCCTGGTT
397516354	52559	NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln)	TNNI3	Jul 05, 2017	MedGen:C2750091,OMIM:613286;MedGen:C2678474,OMIM:611880;MedGen:C1860752,OMIM:613690;MedGen:C1861861,OMIM:115210;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Dilated cardiomyopathy 1FF;Dilated cardiomyopathy 2A;Familial hypertrophic cardiomyopathy 7;Familial restrictive cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline;unknown	19	55154094	ATGCCATGATGCAGGCGCTGCTGGGGGCCCGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA
63750874	426780	NM_001171.5(ABCC6):c.4501G>A (p.Gly1501Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150144	GGCCTGTTTTACAGACTGGCCCAGGAGTCAGGCCTGGTCTGAGCCAGGACCCTCAACCGTA
587776965	59506	NM_024769.3(CLMP):c.821G>A (p.Arg274Gln)	CLMP	Mar 01, 2012	Human Phenotype Ontology:HP:0004389,MedGen:C0021847,OMIM:615237	Congenital short bowel syndrome	germline	11	123074702	ATGAGGAAGAAGAGAGACCTAATGAAATTCGGTAAACCTCCCACATCCCTACTTTTACGGG
312262721	49791	NM_025137.3(SPG11):c.869+1G>A	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44657094	AGTTGCTCTTAACTTAAATTTGTATTTCAGGTATGTAGATGACTGCAGTTTCTAATTTGAG
28933674	25319	NM_000132.3(F8):c.5526G>A (p.Met1842Ile)	F8	Dec 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904871	AACTTACTTTTGGAAAGTGCAACATCATATGGCACCCACTAAAGATGAGTTTGACTGCAAA
104886263	36022	NM_000495.4(COL4A5):c.3763G>A (p.Gly1255Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668477	CCAGCTCTGGAAGGACCTAAAGGCAACCCTGGGCCCCAAGGTCCTCCTGGGAGACCAGGTA
137852910	17938	NM_000419.4(ITGA2B):c.1063G>A (p.Glu355Lys)	ITGA2B	Sep 01, 1998	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	44383640	ATGGAGAGCCGGGCAGACCGAAAACTGGCCGAAGTGGGGCGTGTGTATTTGTTCCTGCAGC
1064795602	405130	NM_005465.4(AKT3):c.964G>A (p.Asp322Asn)	AKT3	Sep 12, 2017	MedGen:CN517202	not provided	germline	1	243552928	TGATTTCACTTTTAGGTGTTAGAAGATAATGACTATGGCCGAGCAGTAGACTGGTGGGGCC
1060502926	393026	NM_000179.2(MSH6):c.3556+1G>A	MSH6	Aug 10, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47805028	GACTTGGTGCCTCAGACAGAATAATGTCAGGTGAGTTTTTTGTTTCCCACTTAAGTTCTCA
886041007	263165	NM_006087.3(TUBB4A):c.730G>A (p.Gly244Ser)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495769	AGCGGGGTCACCACCTGCCTGCGCTTCCCGGGCCAGCTGAACGCCGACCTGCGCAAGCTGG
72547568	260161	NM_000382.2(ALDH3A2):c.733G>A (p.Asp245Asn)	ALDH3A2	Jun 01, 2017	MedGen:C0037231,OMIM:270200,Orphanet:ORPHA816,SNOMED CT:111303009;MedGen:CN517202	Sjögren-Larsson syndrome;not provided	germline	17	19657797	ATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAA
863223534	209957	NM_000118.3(ENG):c.446G>A (p.Trp149Ter)	ENG	May 15, 2014	MedGen:CN517202	not provided	germline	9	127826587	CATCCTTCCCCAAGACCCAGATCCTTGAGTGGGCAGCTGAGAGGGGCCCCATCACCTCTGC
398123698	100033	NM_003361.3(UMOD):c.944G>A (p.Cys315Tyr)	UMOD	Jun 10, 2013	MedGen:CN517202	not provided	germline	16	20348252	ACTGCAAATCGAATAATGGCAGATGGCACTGCCAGTGCAAACAGGACTTCAACATCACTGG
121434560	31814	NM_000234.2(LIG1):c.1696G>A (p.Glu566Lys)	LIG1	Jun 20, 1992	MedGen:C4016019	DNA ligase I deficiency	germline	19	48133011	AAACGCTTTGAGGAGGCAGCTTTCACCTGCGAATACAAATATGACGGGCAGAGGGCACAGG
63750217	32138	NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr)	MLH1	Aug 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C1333991,OMIM:609310;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;not provided;not specified	germline;unknown	3	37048955	GAATGTTTTGAAAGCCTCAGTAAAGAATGCGCTATGTTCTATTCCATCCGGAAGCAGTACA
587784266	169352	NM_000430.3(PAFAH1B1):c.405G>A (p.Trp135Ter)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2670168	AACCAATTTTCTGTTCACTTGACAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACT
797045390	209292	NM_000052.6(ATP7A):c.3943G>A (p.Gly1315Arg)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78042726	GACTCCCCAGCTCTGGCAATGGCTAATGTGGGAATTGCTATTGGCACAGGCACAGATGTAG
199473000	78294	NM_000238.3(KCNH2):c.2417G>A (p.Gly806Glu)	KCNH2	May 10, 2014	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150949031	CATGGCCTCCAGGGAAGAATGACATCTTTGGGGAGCCTCTGAACCTGTATGCAAGGCCTGG
398123240	98511	NM_000194.2(HPRT1):c.384+1G>A	HPRT1	Jul 13, 2015	MedGen:C0023374,OMIM:300322,SNOMED CT:10406007	Lesch-Nyhan syndrome	germline	X	134486531	GGAGATGATCTCTCAACTTTAACTGGAAAGGTATGTATCTTGAAAGGGAAGAAAAAAAAGC
1057518190	359408	NM_015265.3(SATB2):c.1196G>A (p.Arg399His)	SATB2	Nov 03, 2016	MedGen:CN517202	not provided	germline	2	199328888	TTAATCAGGGATTGTTGTCTGAGATTCTGCGTAAGGAAGAAGACCCTCGGACAGCCTCTCA
1060502053	398102	NM_005097.3(LGI1):c.1128G>A (p.Trp376Ter)	LGI1	Jul 14, 2016	MedGen:C1838062,OMIM:600512,Orphanet:ORPHA101046	Epilepsy, lateral temporal lobe, autosomal dominant	germline	10	93797257	ATTCTACTCCCATCAATCCTTACACGCGTGGTACAGGGACACTGATGTGGAATATCTAGAA
121909739	31152	NM_006516.2(SLC2A1):c.940G>A (p.Gly314Ser)	SLC2A1	Jan 20, 2017	MedGen:C3553859,OMIM:614847;MedGen:CN030711,OMIM:606777;MedGen:C3149117;MedGen:C1842534,OMIM:612126,Orphanet:ORPHA98811;MedGen:CN517202	Epilepsy, idiopathic generalized, susceptibility to, 12;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 1, autosomal recessive;GLUT1 deficiency syndrome 2;not provided	germline	1	42929242	CAGCAGCCTGTGTATGCCACCATTGGCTCCGGTATCGTCAACACGGCCTTCACTGTCGTGT
796052977	201571	NM_001165963.1(SCN1A):c.1662G>A (p.Gln554=)	SCN1A	Jun 10, 2014	MedGen:CN517202	not provided	germline	2	166045043	ATATGAAAAGAGGTACTCCTCCCCACACCAGGTATGGCACTGCTGAGTTTACTGATGCATG
587783755	170026	NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150657899	AAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCT
587779659	107149	NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005441	AGGGTCTTCCTGGTCTGGCTGGTACAGCTGGTGAACCTGGAAGAGATGTGAGTAGCAGTTT
104894435	24321	NM_000161.2(GCH1):c.323G>A (p.Gly108Asp)	GCH1	Jul 01, 1998	MedGen:C2673535,Orphanet:ORPHA101150	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	germline	14	54902341	CGGCCTCGGCCATGCAGTTCTTCACCAAGGGCTACCAGGAGACCATCTCAGGTCAGTGCGC
281864916	46893	NM_001146040.1(GLRA1):c.737G>A (p.Arg246Gln)	GLRA1	Oct 04, 2012	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary	not provided	5	151851565	CCTGCATTGAGGCCCGGTTCCACCTGGAGCGGCAGATGGGTTACTACCTGATTCAGATGTA
397508174	67880	NM_000492.3(CFTR):c.1202G>A (p.Trp401Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117542101	AAGTAGTGATGGAGAATGTAACAGCCTTCTGGGAGGAGGTCAGAATTTTTAAAAAATTGTT
1057519588	362414	NM_002485.4(NBN):c.1125G>A (p.Trp375Ter)	NBN	Feb 02, 2017	MedGen:C0398791,OMIM:251260,Orphanet:ORPHA647,SNOMED CT:234638009	Microcephaly, normal intelligence and immunodeficiency	germline	8	89955555	TTTACCTTGCATTCTTTTCTTTTTCTACAGGGATTTGAGTGAAAGGCCAAAAGAAATCAAA
374480381	101418	NM_012463.3(ATP6V0A2):c.1514+1G>A	ATP6V0A2	Aug 02, 2012	MedGen:C0268355,OMIM:219200,Orphanet:ORPHA357058,SNOMED CT:73856006	Cutis laxa with osteodystrophy	germline	12	123744785	CGCAGAGCATAAGAAGATGGTGCTTTGGAAGTAAGTGTCCCATAGCTGGTGATGCTCTGGG
80358094	131306	NM_007294.3(BRCA1):c.5152+1G>A	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43063873	CGGGAGGAAAATGGGTAGTTAGCTATTTCTGTAAGTATAATACTATTTCTCCCCTCCTCCC
121918378	28237	NM_006907.3(PYCR1):c.752G>A (p.Arg251His)	PYCR1	Sep 01, 2009	MedGen:C3280799,OMIM:614438,Orphanet:ORPHA293633	Autosomal recessive cutis laxa type 3B	germline	17	81934371	CCTTGCATGTGCTGGAGAGTGGGGGCTTCCGCTCCCTGCTCATCAACGCTGTGGAGGCCTC
113993947	222912	NM_000202.7(IDS):c.508-1G>A	IDS	May 16, 2007	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149498308	AAGCTGATGTTATATTATTTTGTTTTGAAAGACATGTCGAGGGCCAGATGGAGAACTCCAT
372227120	68596	NM_000492.3(CFTR):c.4242+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117665565	GAAGCAATGCTGGAATGCCAACAATTTTTGGTGAGTCTTTATAACTTTACTTAAGATCTCA
61064130	29540	NM_170707.3(LMNA):c.1822G>A (p.Gly608Ser)	LMNA	Jan 08, 2015	MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004;MedGen:CN517202	Hutchinson-Gilford syndrome;not provided	germline	1	156138611	GCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCT
797045198	206612	NM_033409.3(SLC52A3):c.1255G>A (p.Val419Met)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	761181	TGCCTCAGTTACGTCAAGGTGATGCTGGGCGTGGTCCTGCGCGACCTCAGCCGCAGCGCCC
587777433	139382	NM_181705.3(LYRM7):c.73G>A (p.Asp25Asn)	LYRM7	Dec 01, 2013	MedGen:C4014440,OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	germline	5	131180149	CACAGGACCAGACAACAAGTTTTTAAAAATGATGCCAGAGCATTAGAAGGTAAGTATGTTC
587784036	168508	NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr)	NIPBL	May 05, 2017	MedGen:CN029798,OMIM:122470;MedGen:CN517202	Cornelia de Lange syndrome 1;not provided	germline	5	37052471	AGGGGTTTCAGACAAGACGAGTCCTCTAGCGCTTTGTGTTCACACCTTTACTCCATGATCC
121918403	31656	NM_001976.4(ENO3):c.467G>A (p.Gly156Asp)	ENO3	Aug 01, 2001	MedGen:C2752027,OMIM:612932,Orphanet:ORPHA99849	Glycogen storage disease type 13	germline	17	4955097	CATCTCAGGCCTTCAATGTGATCAACGGGGGCTCCCATGCTGGAAACAAGCTGGCCATGCA
72556301	103152	NM_000531.5(OTC):c.589G>A (p.Gly197Arg)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403666	AAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACTCCATCATGATGA
797044455	224789	NM_001257989.1(TYMP):c.1174G>A (p.Gly392Ser)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526142	AGCCCGCGCCTCTCAGCCCCTCTCCCCGCAGGCACCGTGGAGCTGGTCCGGGCGCTGCCGC
201457110	214526	NM_003737.3(DCHS1):c.7538G>A (p.Arg2513His)	DCHS1	Sep 03, 2015	Gene:352956,MedGen:C1843003,OMIM:607829	Mitral valve prolapse 2	germline	11	6624138	CCCTGGAGGCTACAGATGCTGATGGAAGCCGCAGCCATGCCGCTGTGGACTACAGCATCAT
104895362	214395	NM_000431.3(MVK):c.1039+1G>A	MVK	Oct 01, 2014	MedGen:C1867981,OMIM:175900	Porokeratosis, disseminated superficial actinic 1	germline	12	109595182	GTGGCTGTGGCATCACACTCCTCAAGCCAGGTATCCCGGGGGTAGGTGGGCCAGGCTGCCA
794728777	196687	NM_001035.2(RYR2):c.11836G>A (p.Gly3946Ser)	RYR2	May 15, 2017	MedGen:C1631597,Orphanet:ORPHA3286;MedGen:CN517202	Catecholaminergic polymorphic ventricular tachycardia;not provided	germline	1	237778726	GCACACAGCAGGCTGTGGGATGCTGTGGTCGGCTTTCTTCATGTGTTTGCCCATATGCAGA
606231334	136663	NM_000257.3(MYH7):c.2163-1G>A	MYH7	-	MedGen:C0264789,SNOMED CT:35728003	Familial cardiomyopathy	not provided	14	23425819	CATGGGTGACTCTGGACACTTCCCTCCTCAGGTATCGCATCCTGAACCCAGCGGCCATCCC
377767345	36169	NM_005359.5(SMAD4):c.1055G>A (p.Gly352Glu)	SMAD4	Dec 04, 2012	MedGen:C1832942,OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	not provided	18	51065522	CTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGATCGCTT
756623659	244110	NM_198576.3(AGRN):c.226G>A (p.Gly76Ser)	AGRN	Jul 14, 2016	MedGen:C0751882,Orphanet:ORPHA590	Congenital myasthenic syndrome	germline	1	1022225	CCCCAGGTTCGGGTCTGGCGGTACTTGAAGGGCAAAGACCTGGTGGCCCGGGAGAGCCTGC
-1	467965	NM_000088.3(COL1A1):c.903+1G>A	COL1A1	Jun 22, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline	17	50196483	CCTGGTGAAAATGGAGCTCCTGGTCAGATGGTGAGTGTGCCCAGTTCCAGAGGGCAGGGAT
377767386	47343	NM_005359.5(SMAD4):c.424+1G>A	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51048861	ACTACGAACGAGTTGTATCACCTGGAATTGGTAAGTAGACTTTGCTTTCATCCTAAGAAAC
104894953	24809	NM_021083.3(XK):c.941G>A (p.Trp314Ter)	XK	Nov 01, 2001	MedGen:C0398568,OMIM:300842,Orphanet:ORPHA59306	McLeod neuroacanthocytosis syndrome	germline	X	37728068	GCCCTGACCTCATCAGCAAGTCCCATAATTGGTACCAGCTACTGGTGTATTACATGATAAG
797044890	205298	NM_013275.5(ANKRD11):c.7569+1G>A	ANKRD11	May 03, 2016	MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Inborn genetic diseases;not provided	germline	16	89275092	AAGCTGCGTCTACAGCACAGCATCGAGCGGGTAAGTGGGCTGGCACAGGCAGGGGGGCGCC
104886097	35707	NM_000495.4(COL4A5):c.1112G>A (p.Gly371Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108586694	TTGGGTTGCCTGGGTTGCCTGGAGAAAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCC
137854445	31777	NM_001972.3(ELANE):c.659G>A (p.Arg220Gln)	ELANE	Aug 14, 2017	MedGen:C0221023,OMIM:162800,Orphanet:ORPHA2686,SNOMED CT:191347008;MedGen:CN517202	Cyclical neutropenia;not provided	germline	19	856019	GGCTAATCCACGGAATTGCCTCCTTCGTCCGGGGAGGCTGCGCCTCAGGGCTCTACCCCGA
397518462	94273	NM_013335.3(GMPPA):c.545G>A (p.Gly182Asp)	GMPPA	Oct 03, 2013	MedGen:C3809738,OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	germline	2	219504138	GCACATTTATCAGTGACATCATCAACTGCGGCATCTACCTCTTTTCTCCTGAAGCCTTGAA
886039896	260810	NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg)	LAMA2	Nov 07, 2017	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	inherited	6	129505317	CTGGATGTCGTGGGAATGCTGTATGTTGGTGGGTTACCCATCAACTACACTACCCGAAGAA
104886115	35748	NM_000495.4(COL4A5):c.1406G>A (p.Gly469Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591627	CAGGATCTCCAGGTGATAAAGGACTCCAAGGAGAACAAGGAGTGAAAGGTTTGATCTCCAA
113994140	17322	NM_153026.2(PRICKLE1):c.311G>A (p.Arg104Gln)	PRICKLE1	Jan 19, 2017	MedGen:C2676254,OMIM:612437;MedGen:CN517202	Progressive myoclonus epilepsy with ataxia;not provided	germline	12	42469523	AAAAAGAGTTGCAGGTGTTCAGTGCTCAGCGGAAGAAAGAAGCACTGGGAAGAGGAACAAT
199472702	67745	NM_000218.2(KCNQ1):c.604G>A (p.Asp202Asn)	KCNQ1	May 12, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2570754	CGCTTTGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGGTCACG
180177173	200437	NM_000030.2(AGXT):c.139G>A (p.Gly47Arg)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869004	ATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAG
1057518326	360299	NM_000267.3(NF1):c.4773-1G>A	NF1	Feb 02, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline	17	31325819	TAATCTTTGTCTTTTTTGTCATTTTCCTTAGGTTCAAAACTGGTCAAATCAATGGTGATTT
111517471	21796	NM_004572.3(PKP2):c.2489+1G>A	PKP2	Jul 31, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1836906,OMIM:609040;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided	germline	12	32796108	GAAAATTATGGCCATTAGTGCAGGCGATGCGTAAGTCCTTCAGTTCTGCCCGTCAGCTGCC
121908559	20960	NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)	SCN4A	Nov 13, 2007	MedGen:C1868617,OMIM:168300	Paramyotonia congenita of von Eulenburg	germline	17	63941854	GGGCATCCGGACGCTGCTGTTCGCCCTCATGATGTCGCTGCCTGCCCTCTTCAACATCGGC
786205243	15552	NM_001142446.1(ANK1):c.1900-17G>A	ANK1	Jun 15, 2007	MedGen:CN068423	Spherocytosis, type 1, autosomal recessive	germline	8	41708992	GCTCAGCATTCCTGTAACCAGGCTCTGGGCGGCTTCTTCTGTTTCAGAATGGCTACACCCC
587777307	132584	NM_000806.5(GABRA1):c.751G>A (p.Gly251Ser)	GABRA1	Apr 08, 2014	MedGen:C3810400,OMIM:615744	Epileptic encephalopathy, early infantile, 19	germline	5	161890945	ACCACTCATTTCCACTTGAAGAGAAAGATTGGCTACTTTGTTATTCAAACATACCTGCCAT
72653792	409466	NM_001171.5(ABCC6):c.2359G>A (p.Val787Ile)	ABCC6	Sep 25, 2015	MedGen:CN517202	not provided	germline	16	16178854	GATGACCCCCTGGCGGCCCTGGATGCCCACGTTGGCCAGCATGTCTTCAACCAGGTCATTG
114925667	260377	NM_024818.4(UBA5):c.1111G>A (p.Ala371Thr)	UBA5	Sep 25, 2017	MedGen:C4310700,OMIM:617132;MedGen:CN517202	Epileptic encephalopathy, early infantile, 44;not provided	germline	3	132675903	GTTCCAGACTTACCTGAAGGAATTACAGTGGCATACACAATTCCAAAAAAGGTACTTCAAA
886037858	247614	NM_138459.4(NUS1):c.869G>A (p.Arg290His)	NUS1	Jan 22, 2018	MedGen:C4310727,OMIM:617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	germline	6	117707002	CCCTTCGTCAATATGCAGCCTGTGAACAGCGTCTGGGAAAGTAGTGGTCATTGGTTGCATA
879255265	227488	NM_000523.3(HOXD13):c.917G>A (p.Arg306Gln)	HOXD13	Aug 12, 2016	MedGen:C2699746,OMIM:186000,Orphanet:ORPHA93403	Synpolydactyly 1	germline	2	176094615	CCATTAACAAATTCATTAACAAGGACAAGCGGCGGCGTATCTCGGCTGCTACGAACCTATC
371898076	52045	NM_000257.3(MYH7):c.1988G>A (p.Arg663His)	MYH7	Oct 09, 2017	MedGen:CN230736;MedGen:C1834481,OMIM:613426;MedGen:C3495498,OMIM:192600;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135;Gene:619511,MedGen:C1850709,OMIM:255160;MedGen:C1842160,OMIM:608358,SNOMED CT:699267007;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;Gene:8090,MedGen:CN074265,OMIM:181430,Orphanet:ORPHA437572;MedGen:CN517202	Cardiovascular phenotype;Dilated cardiomyopathy 1S;Familial hypertrophic cardiomyopathy 1;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Myopathy, distal, 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Scapuloperoneal myopathy, MYH7-related;not provided	germline;maternal	14	23426833	AAAATCTGAACAAGCTGATGACCAACTTGCGCTCCACCCATCCCCACTTTGTACGTTGTAT
112602953	197398	NM_001613.2(ACTA2):c.353G>A (p.Arg118Gln)	ACTA2	Oct 27, 2017	MedGen:C2673186,OMIM:611788;MedGen:CN517202	Aortic aneurysm, familial thoracic 6;not provided	germline	10	88943813	CGGAGGCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAAGTAAGTATGCTACC
755649235	440666	NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu)	COL4A4	Sep 28, 2015	MedGen:CN517202	not provided	germline	2	227098780	TATCTTTGGCAGGCCCACCAGGGGACCCAGGGTTCCCTGGCCGCTATGGAGAAACAGGGGA
1057519632	362622	NM_003718.4(CDK13):c.2149G>A (p.Gly717Arg)	CDK13	Feb 02, 2018	MedGen:CN240690,OMIM:617360;MedGen:CN517202	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder;not provided	germline	7	39999467	ATCATCGGAATTATTGGAGAAGGTACTTACGGACAAGTTTACAAAGCCAGGGATAAAGACA
587779680	107185	NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999534	CTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCC
587779578	450325	NM_000090.3(COL3A1):c.3500G>A (p.Gly1167Asp)	COL3A1	May 02, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008117	CAGGTCCCATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGGTAAG
137853185	15582	NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln)	LRTOMT	Nov 01, 2008	MedGen:C1969621,OMIM:611451	Deafness, autosomal recessive 63	germline	11	72106094	ACTGCCTGTCAGGGCTGCGGATCGAGGAGCGGGCCTTCAGCTACGTGCTCACCCATGCCCT
80356962	70247	NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter)	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline;unknown	17	43047666	ACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGGTAAGGT
137929307	171217	NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu)	LDLR	May 15, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841;MedGen:C0020443;MedGen:CN517202	Familial hypercholesterolemia;Familial hypercholesterolemias;Hypercholesterolaemia;not provided	germline;inherited;not applicable	19	11116928	TTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGA
587779652	107137	NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991723	CGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTAC
137853227	30943	NM_002070.3(GNAI2):c.536G>A (p.Arg179His)	GNAI2	Aug 26, 2014	MedGen:C4016392;MedGen:C1370419;MedGen:C2750844	Adrenocortical tumor, somatic;Granulosa cell tumor of the ovary;Thecoma, somatic	somatic	3	50256263	TCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACA
796065049	204356	NM_057179.2(TWIST2):c.223G>A (p.Glu75Lys)	TWIST2	Jul 02, 2015	MedGen:C1860224,OMIM:200110,Orphanet:ORPHA920	Ablepharon macrostomia syndrome	germline	2	238848438	CAGAGCCAGCGCATCCTGGCCAACGTGCGCGAGCGCCAGCGCACCCAGTCGCTCAACGAGG
773658037	246066	NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln)	LDLR	Dec 13, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11113338	GGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCCAACCT
587777346	132647	NM_005861.3(STUB1):c.235G>A (p.Ala79Thr)	STUB1	Apr 17, 2014	MedGen:C4014261,OMIM:615768,Orphanet:ORPHA412057	Spinocerebellar ataxia, autosomal recessive 16	germline	16	681227	TGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTGGCCGACTGCCGGCGCGCCCTGGAGC
137852308	25518	NM_000032.4(ALAS2):c.475G>A (p.Asp159Asn)	ALAS2	Jun 01, 2003	MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED CT:62677000	Hereditary sideroblastic anemia	germline	X	55021215	TTCAGGGACAAGATCATGGAGAAGAAACAGGATCACACCTACCGTGTGTTCAAGACTGTGA
199473101	78535	NM_198056.2(SCN5A):c.1127G>A (p.Arg376His)	SCN5A	May 09, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38606682	TCCGCCTGATGACGCAGGACTGCTGGGAGCGCCTCTATCAGCAGGTGTGTGTGTGCCCACA
202198133	165952	NM_003002.3(SDHD):c.205G>A (p.Glu69Lys)	SDHD	Mar 06, 2017	MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208;MedGen:CN517202	Mitochondrial complex II deficiency;not provided	germline	11	112088902	TCCAAGGCTGCATCTCTCCACTGGACTAGCGAGAGGGTTGTCAGTGTTTTGCTCCTGGGTC
121913633	29138	NM_000257.3(MYH7):c.767G>A (p.Gly256Glu)	MYH7	May 25, 2017	MedGen:C3495498,OMIM:192600;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23431447	AATTCATTCGAATTCATTTTGGGGCAACAGGAAAGTTGGCATCTGCAGACATAGAGACCTG
587779563	107019	NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006444	GTCGGTCCAGCTGGAAAGAGTGGTGACAGAGGAGAAAGTGTGAGTTCCCAAAAGCAGCATC
876661350	236780	NM_000218.2(KCNQ1):c.528G>A (p.Trp176Ter)	KCNQ1	Dec 07, 2011	MedGen:CN517202	not provided	germline	11	2570678	CTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGC
397514037	360341	NM_002474.2(MYH11):c.4578+1G>A	MYH11	Feb 06, 2017	MedGen:C1851504,OMIM:132900;MedGen:CN517202	Aortic aneurysm, familial thoracic 4;not provided	germline	16	15721421	GTCAGCTCCAAGGATGACGTGGGCAAGAACGTAAGTGGCTCTGGGTGGTTTTTCTCGTCCA
121912902	32281	NM_000089.3(COL1A2):c.2593G>A (p.Gly865Ser)	COL1A2	Sep 25, 1989	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	7	94424363	TAGGGACCTCCTGGCACTCCAGGTCCTCAGGGTCTTCTTGGTGCTCCTGGTATTCTGGGTC
782290433	260329	NM_000377.2(WAS):c.223G>A (p.Val75Met)	WAS	May 05, 2017	MedGen:C1839163,OMIM:313900,Orphanet:ORPHA852;MedGen:CN517202	Thrombocytopenia, X-linked;not provided	germline	X	48684373	ACCAAGGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTACTTCA
387906885	39370	NM_016219.4(MAN1B1):c.1189G>A (p.Glu397Lys)	MAN1B1	Sep 30, 2016	MedGen:C3280127,OMIM:614202;MedGen:CN517202	Mental retardation, autosomal recessive 15;not provided	germline	9	137101607	CCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGG
386834260	28160	NM_183059.2(RD3):c.296+1G>A	RD3	May 02, 2013	MedGen:C1857743,OMIM:610612	Leber congenital amaurosis 12	germline	1	211481119	CCCATCCTATTGTGGGCCTGCTATCCTCAGGTGAGCACTGGGATGGGGACCCTTGCTGGGC
397515757	51454	NM_000138.4(FBN1):c.1468+5G>A	FBN1	Oct 05, 2017	MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED CT:254090007;MedGen:C1851286,OMIM:129600;MedGen:C3280054,OMIM:614185;MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715;MedGen:C4310796,OMIM:616914,Orphanet:ORPHA300382;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:C1869115,OMIM:608328,Orphanet:ORPHA2084;MedGen:CN517202	Acromicric dysplasia;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan lipodystrophy syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome 2;not provided	germline;unknown	15	48515382	GCTGGACCTCCGTGGGGAGTGTATTGGTACGTGATCCATCCTAGGTTGGCACCAAGGGTCT
864321715	217279	NM_006086.3(TUBB3):c.211G>A (p.Gly71Arg)	TUBB3	Mar 02, 2016	MedGen:C2748801,OMIM:600638;MedGen:CN517202	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;not provided	germline	16	89933512	CCTCGAGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCT
776496862	192617	NM_000282.3(PCCA):c.1788G>A (p.Trp596Ter)	PCCA	Dec 02, 2014	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100425674	TGGGTCGAAACTAAATGTGACCAGCACGTGGAACCTGGCTTCGCCCTTATTGTCTGTCAGC
587783387	168726	NM_018249.5(CDK5RAP2):c.4005-1G>A	CDK5RAP2	Apr 01, 2014	MedGen:C1858108,OMIM:604804	Primary autosomal recessive microcephaly 3	germline	9	120419961	GATGATTTATCTTTCAATCTCAATGGTTAAGGATTGAGGAAGACAACTTAACCTACCAACA
121908315	19654	NM_012398.2(PIP5K1C):c.757G>A (p.Asp253Asn)	PIP5K1C	Sep 01, 2007	MedGen:C1969655,OMIM:611369,Orphanet:ORPHA137783	Lethal congenital contractural syndrome 3	germline	19	3653454	CCCCGCGTGGTCAAGATGCACCTCAAGTTCGACCTCAAGGGCTCCACCTACAAGCGGCGCG
67162110	32314	NM_000089.3(COL1A2):c.1404+1G>A	COL1A2	May 01, 2004	MedGen:C1857034,OMIM:225320,Orphanet:ORPHA230851	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	germline	7	94412122	ATCGGCCCCGCTGGAAAAGAAGGTCCTGTCGTAAGTATTGCTCATTTTCCATTATATTTTC
398123439	99086	NM_000512.4(GALNS):c.477G>A (p.Trp159Ter)	GALNS	May 14, 2013	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88837711	CCACCCCCTGAAGCACGGATTTGATGAGTGGTTTGGATCCCCCAACTGCCACTTTGGACCT
398124401	102019	NM_024592.4(SRD5A3):c.57G>A (p.Trp19Ter)	SRD5A3	Aug 04, 2017	MedGen:C3150191,OMIM:612379,Orphanet:ORPHA324737;MedGen:CN517202	Congenital disorder of glycosylation type 1Q;not provided	germline;inherited	4	55346393	CTCGGCGCTGAACCCGCTGCGCGCGGTGTGGCTCACGCTGACCGCCGCCTTCCTGCTGACC
886041708	264600	NM_000161.2(GCH1):c.159G>A (p.Trp53Ter)	GCH1	Apr 18, 2016	MedGen:CN517202	not provided	germline	14	54902505	GGCCAAGAGCGCGCAGCCCGCGGACGGCTGGAAGGGCGAGCGGCCCCGCAGCGAGGAGGAT
869025670	364105	NM_023110.2(FGFR1):c.1468G>A (p.Gly490Arg)	FGFR1	Nov 21, 2016	MedGen:CN517202	not provided	de novo	8	38417954	TTAGGCAAACCCCTGGGAGAGGGCTGCTTTGGGCAGGTGGTGTTGGCAGAGGCTATCGGGC
118192235	34621	NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln)	KCNQ2	Nov 16, 2016	MedGen:C1852587,OMIM:121200;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Benign familial neonatal seizures 1;Epileptic encephalopathy;not provided	de novo;germline	20	63413471	ACTCAGCCGGCCACCTGGACATGCTGTCCCGAATTAAGAGCCTGCAGTCCAGGCAAGAGCC
281874663	35731	NM_000495.4(COL4A5):c.1259G>A (p.Gly420Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591151	ATGAAGGACCACCTGGAATTTCCATTCCTGGACCTCCTGGACTTGACGGACAGCCTGGGGC
137852676	44281	NM_000352.4(ABCC8):c.4198G>A (p.Gly1400Arg)	ABCC8	Jun 07, 2014	MedGen:C3888018,Orphanet:ORPHA276525;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885;MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Familial hyperinsulinism;Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy	germline;unknown	11	17395852	GCCTTCTTCCGCATGGTGGACACGTTCGAAGGTGAGTTGTAAGGCGGGCACCCCACGTGTA
863223311	31746	NM_130803.2(MEN1):c.1365+1G>A	MEN1	Aug 01, 2004	MedGen:C1840402,OMIM:145000	Hyperparathyroidism 1	germline	11	64805033	GTGCAGTCCCTAGGCCGTTTTGAGGGACAGGTGAGGGACAGCTGCACAGAGGTCTGGGCAC
45546039	48043	NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln)	SCN5A	Mar 22, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C1832680,OMIM:601154;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Brugada syndrome;Congenital long QT syndrome;Dilated cardiomyopathy 1E;Primary dilated cardiomyopathy;not provided	germline	3	38613781	TGGGCAATGTCTCAGCCTTACGCACCTTCCGAGTCCTCCGGGCCCTGAAAACTATATCAGT
875989890	228121	NM_000527.4(LDLR):c.224G>A (p.Cys75Tyr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102697	CTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCA
281864970	47621	NM_024312.4(GNPTAB):c.1001G>A (p.Arg334Gln)	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101770518	AAGATAACGAAGAACTGAGGTACTCATTGCGATCTATCGAGAGGCATGCACCATGGGTTCG
119479067	20017	NM_022436.2(ABCG5):c.1256G>A (p.Arg419His)	ABCG5	Jan 01, 2001	MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED CT:238104009	Sitosterolemia	germline	2	43823981	GCAATGTGCTAAAGGGTGCTATCCAGGACCGCGTAGGTCTCCTTTACCAGTTTGTGGGCGC
587783660	169281	NM_005682.6(ADGRG1):c.620+1G>A	ADGRG1	Feb 08, 2013	MedGen:C1847352,OMIM:606854,Orphanet:ORPHA101070	Polymicrogyria, bilateral frontoparietal	germline	16	57653336	AAGGAGGCCCTCGGCTGCCCCCGCCAGCCAGTAAGTTTGGCACCTGGGGCTGTGAGGGGAG
61731956	228099	NM_005693.3(NR1H3):c.1244G>A (p.Arg415Gln)	NR1H3	Aug 01, 2015	MedGen:C0026769,Orphanet:ORPHA802	Multiple sclerosis	inherited	11	47268596	CACGGATGCTAATGAAACTGGTGAGCCTCCGGACCCTGAGCAGCGTCCACTCAGAGCAAGT
770114459	205050	NM_014362.3(HIBCH):c.1033G>A (p.Gly345Ser)	HIBCH	Aug 01, 2015	MedGen:C0342738,OMIM:250620,Orphanet:ORPHA88639,SNOMED CT:237958002	Beta-hydroxyisobutyryl-CoA deacylase deficiency	germline	2	190208892	TTCTTTCAGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGGTAAGTGGCAAATGGGAA
377160857	440090	NM_025132.3(WDR19):c.880G>A (p.Gly294Arg)	WDR19	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	4	39205726	TCACAGACTCTTAACAAAGTTGCTACATGTGGAGATAACTGGTAAGTTATTTTCACATATT
1060499796	389222	NM_032119.3(ADGRV1):c.2898G>A (p.Glu966=)	ADGRV1	Jun 04, 2016	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90644869	AAATATCACCATTTACTCCCTTCCAGATGAGGTAAATATTGCATATAACTTTCTGCCTTAC
199469655	106398	NM_003590.4(CUL3):c.1236G>A (p.Leu412=)	CUL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	2	224503793	GCTAACAGAACAAGAAGTAGAAACAATATTGGATAAAGCAATGGTCCTTTTTAGGTTTATG
587777082	102932	NM_015662.2(IFT172):c.3228+1G>A	IFT172	Feb 10, 2014	MedGen:C4017084	Short-rib thoracic dysplasia 10 without polydactyly	germline	2	27457638	GCCAGTGGGCTTTGGGAAGAGGCCTACAGGGTAAGGAGTTCAGGCCACACTGAGGGATACA
121908686	21242	NM_003560.3(PLA2G6):c.2222G>A (p.Arg741Gln)	PLA2G6	Feb 01, 2009	MedGen:C2751842,OMIM:612953,Orphanet:ORPHA199351	Parkinson disease 14	germline	22	38112558	CTTCTCACCAGTGCACGGATCCAGACGGGCGGGCTGTGGACCGGGCACGGGCCTGGTGCGA
121913069	31568	NM_000129.3(F13A1):c.1687G>A (p.Gly563Arg)	F13A1	Apr 15, 1998	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6174640	TATCTCTCAGCCAACATCACCTTCTACACCGGGGTCCCGAAGGCAGAATTCAAGAAGGAGA
63750446	426830	NM_001171.5(ABCC6):c.3895G>A (p.Gly1299Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16155019	CCTCCCAACCCCGGGCAGGTGGGCATCGTTGGCAGGACCGGGGCAGGGAAGTCCTCCCTGG
377767323	36139	NM_005359.5(SMAD4):c.302G>A (p.Trp101Ter)	SMAD4	Dec 04, 2012	MedGen:C1832942,OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	not provided	18	51048738	CTCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACA
9333649	78144	NM_000238.3(KCNH2):c.1714G>A (p.Gly572Ser)	KCNH2	Dec 16, 2016	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150951679	CACTGGCTAGCCTGCATCTGGTACGCCATCGGCAACATGGAGCAGCCACACATGGACTCAC
779939886	216035	NM_172250.2(MMAA):c.733+1G>A	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145646157	GATATGACATAATTCTTATTGAAACCGTTGGTGAGTGTGATATTCTATTTCATAACAATGT
312262798	24268	NM_024408.3(NOTCH2):c.5930-1G>A	NOTCH2	Feb 28, 2013	MedGen:C1857761,OMIM:610205,Orphanet:ORPHA261629	Alagille syndrome 2	germline	1	119917763	GTCTGTTTATAAAAATGTTTCTCCCCTGCAGGAAAATCTGCTCTTCACTGGGCAGCTGCTG
200133991	181460	NM_001031726.3(C19orf12):c.157G>A (p.Gly53Arg)	C19orf12	Mar 07, 2017	MedGen:CN228270;MedGen:C0037773,Orphanet:ORPHA685,SNOMED CT:39912006;Human Phenotype Ontology:HP:0002180,MedGen:C0027746;MedGen:C3280371,OMIM:614298,Orphanet:ORPHA289560	Brain iron accummulation;Hereditary spastic paraplegia;Neurodegeneration;Neurodegeneration with brain iron accumulation 4	germline;inherited	19	29708290	GCCCTGGTCACAGGGGCCATGGCCTTCGTCGGGGGTTTGGTGGGCGGCCCACCGGGACTCG
-1	429900	NM_000135.3(FANCA):c.2151+1G>A	FANCA	Feb 03, 2017	MedGen:C3469521,OMIM:227650	Fanconi anemia, complementation group A	germline	16	89771677	ACGCCGAGACTGGAGCCACGGGAACACATGGTAGGTGTAGGGGCTCAGAACAAAGCAGGGG
886039411	260286	NM_000425.4(L1CAM):c.2547+1G>A	L1CAM	Sep 11, 2017	MedGen:CN517202	not provided	germline	X	153865703	CAGGTCAAGGGCCACCTCCGCGGATACAATGTAAGGGTTGAAGGCATGGGGGCCCAGGAGG
121909109	22544	NM_002653.4(PITX1):c.388G>A (p.Glu130Lys)	PITX1	Nov 01, 2008	MedGen:C0009081,OMIM:119800	Talipes equinovarus	germline	5	135031290	GAGGAGATCGCCGTGTGGACCAACCTCACCGAGCCGCGCGTGCGGGTGAGCAAGGGGTGCG
587777220	125785	NM_004589.3(SCO1):c.394G>A (p.Gly132Ser)	SCO1	May 01, 2009	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	17	10692932	GAGTTAGAGAAGGAACGGCAGCGACACATCGGCAAGCCTTTACTTGGGGGACCGTTTTCCC
-1	414708	NM_001040436.2(YARS2):c.1106G>A (p.Cys369Tyr)	YARS2	Apr 07, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	12	32750105	GATGTAGCTCTTAAAATGTGTTTTTCAGGTGTACACAAGCCCTTTATCACAGTAGCATAGA
281875334	38553	NM_001101.4(ACTB):c.587G>A (p.Arg196His)	ACTB	Apr 03, 2017	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995;MedGen:CN517202	Baraitser-Winter syndrome 1;not provided	germline	7	5528496	CTGACTACCTCATGAAGATCCTCACCGAGCGCGGCTACAGCTTCACCACCACGGCCGAGCG
794727854	425576	NM_001457.3(FLNB):c.1082G>A (p.Gly361Asp)	FLNB	Jun 14, 2017	MedGen:CN517202	not provided	germline	3	58097912	AGGGAGATGCCAGTAAAGTCACTGCAAAAGGTCCAGGGTTGGAAGCTGTAGGGAACATCGC
778345761	235175	NM_024675.3(PALB2):c.3114G>A (p.Trp1038Ter)	PALB2	Dec 29, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23614091	TGATCAGCTTATTTATTTTTGTTATCTAAGGAATTTAAAAACTGGTCAACTCCTGAAAAAG
879956688	427072	NM_001171.5(ABCC6):c.373G>A (p.Glu125Lys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16219655	CAGAGCTTCGCAGTGTTCCTGATTCACACCGAGAGGAAAAAGGGAGTCCAGTCATCTGGAG
1057520544	370537	NM_003165.3(STXBP1):c.1689G>A (p.Trp563Ter)	STXBP1	Mar 10, 2015	MedGen:CN517202	not provided	germline	9	127682547	CTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTC
397515429	48469	NM_018344.5(SLC29A3):c.1157G>A (p.Arg386Gln)	SLC29A3	Dec 21, 2012	MedGen:C1864445,OMIM:602782,Orphanet:ORPHA168569	Histiocytosis-lymphadenopathy plus syndrome	germline	10	71362337	GCAAGGCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTG
28933678	25325	NM_000132.3(F8):c.5593G>A (p.Asp1865Asn)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904518	AGGATTGATGTCTTCCCTCCCTAGGAAAAAGATGTGCACTCAGGCCTGATTGGACCCCTTC
28939668	22663	NM_000214.2(JAG1):c.821G>A (p.Gly274Asp)	JAG1	May 11, 2017	MedGen:C1956125,OMIM:118450;Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED CT:86299006	Alagille syndrome 1;Tetralogy of Fallot	germline	20	10652533	AGTGCATCCCACACCCGGGATGCGTCCACGGCATCTGTAATGAGCCCTGGCAGTGCCTCTG
587777351	132655	NM_025132.3(WDR19):c.3703G>A (p.Glu1235Lys)	WDR19	Aug 01, 2013	MedGen:C3280612,OMIM:614377	Nephronophthisis 13	germline	4	39274945	AAAATAGATGCCAAATACAAAAAGAAGATCGAGGGAATGGTCAGGTAGGCAGAGATGGCTA
368820286	264223	NM_001182.4(ALDH7A1):c.1489+5G>A	ALDH7A1	Jul 05, 2017	MedGen:CN517202	not provided	germline	5	126549924	TGGGGCTGAGATTGGAGGTGCCTTTGGTACGTAGAGAATCATTTCTCCTTTTCCATGTTGG
587779629	107175	NM_000090.3(COL3A1):c.728G>A (p.Gly243Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188990133	CAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCA
772929976	227438	NM_031942.4(CDCA7):c.1148G>A (p.Arg383His)	CDCA7	Apr 21, 2016	MedGen:C4310799,OMIM:616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	germline	2	173366395	GCCAGTTCTGTGGCCCCTGCCTTCGAAACCGTTATGGTGAAGAGGTCAGGGATGCTCTGCT
1057520666	364854	NM_014053.3(FLVCR1):c.1093-1G>A	FLVCR1	Apr 24, 2015	MedGen:CN517202	not provided	germline	1	212885292	TTGATCAACTTCTTACGCAAATTTTTTTCAGGGAGAAGAAGTCAATGCTGGAAGGATTGGG
104886363	35900	NM_000495.4(COL4A5):c.2732G>A (p.Gly911Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108621857	TGGGACCTCCAGGCCCACCAGGACCTTTGGGAATTCCTGGCAGGAGTGGTGTACCTGGTCT
199422160	34433	NM_018136.4(ASPM):c.3741+1G>A	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	not provided	1	197122158	GATATGTCAAATACAATTCCAGATGAAAAGGTAAGTAAAAGAAGAGTTTCTAATTATTAAT
769561386	427656	NM_170707.3(LMNA):c.1786G>A (p.Asp596Asn)	LMNA	Feb 08, 2013	MeSH:D009136,MedGen:C0026850,Orphanet:ORPHA98473	Muscular dystrophy	germline	1	156138575	GTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGGAGCCC
121965047	15201	NM_000274.3(OAT):c.994G>A (p.Val332Met)	OAT	Nov 01, 1993	MedGen:CN068398;Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia;Ornithine aminotransferase deficiency	germline	10	124401746	ACATACGGTGGCAATCCACTAGGCTGCCGAGTGGCCATCGCAGCCCTTGAGGTAAAGACTG
387906589	38549	NM_001105.4(ACVR1):c.983G>A (p.Gly328Glu)	ACVR1	May 31, 2016	Human Phenotype Ontology:HP:0010796,MedGen:C0677865;MedGen:C0016037,OMIM:135100,Orphanet:ORPHA337,SNOMED CT:82725007	Brainstem glioma;Progressive myositis ossificans	germline;somatic	2	157766004	ATTTGCACATAGAGATATTTGGGACCCAAGGGAAACCAGCCATTGCCCATCGAGATTTAAA
121918655	27844	NM_004959.4(NR5A1):c.877G>A (p.Asp293Asn)	NR5A1	Mar 19, 2009	MedGen:C2751824,OMIM:612965,Orphanet:ORPHA98085;MedGen:C2751825,OMIM:612964	46,XY sex reversal, type 3;Premature ovarian failure 7	germline	9	124493143	CCCCCGCGTGCCTCTTCCTTCCAGGTGGCCGACCAGATGACGCTGCTGCAGAACTGCTGGA
587779630	107105	NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189001406	AAATATTTTTATTTCCTCTAGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCC
104894252	18153	NM_000218.2(KCNQ1):c.565G>A (p.Gly189Arg)	KCNQ1	May 02, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome 1;not provided	germline	11	2570715	GGCTGCCGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTT
794727152	191718	NM_021007.2(SCN2A):c.2558G>A (p.Arg853Gln)	SCN2A	May 18, 2017	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927;MedGen:C3150987,OMIM:613721;MedGen:C3150987,OMIM:613721;MedGen:CN517202	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;Early infantile epileptic encephalopathy 11;not provided	de novo;germline;unknown	2	165342465	TGGAAGGATTGTCAGTTCTCCGATCATTCCGGCTGGTAAATTAACTGGGAGTGTTCATAAA
879253804	214883	NM_000282.3(PCCA):c.105+1G>A	PCCA	Jan 01, 2013	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100089226	ATGCTGAGCGCGGCGCTGCGGACCCTGAAGGTGAGGAGCAACGGGGCCTCGCGGGTCCGGG
876660771	235395	NM_004360.4(CDH1):c.1137+1G>A	CDH1	Apr 24, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	germline	16	68812264	GATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAA
876657694	229362	NM_032119.3(ADGRV1):c.14885G>A (p.Trp4962Ter)	ADGRV1	Jul 20, 2015	MedGen:C1854237,OMIM:605472	Usher syndrome, type 2C	germline	5	90807650	ACGGTGAACAAAGGAAAGGAGTTTTCCTGTGGACGTTTCCTAGCCCTGGTTGGCCAGAGGC
751604696	425943	NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln)	DHCR7	May 31, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71435466	TGGCCATCCTGCTGACCCACCGCTGCCTCCGGGACGAGCACCGCTGCGCCAGCAAGTACGG
104894644	19824	NM_025237.2(SOST):c.372G>A (p.Trp124Ter)	SOST	Mar 01, 2001	MedGen:CN032489,OMIM:269500	Sclerosteosis 1	germline	17	43755612	GCTGCCCAACGCCATCGGCCGCGGCAAGTGGTGGCGACCTAGTGGGCCCGACTTCCGCTGC
121907957	18939	NM_000520.5(HEXA):c.509G>A (p.Arg170Gln)	HEXA	Sep 21, 2016	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Tay-Sachs disease;not provided	germline	15	72353129	AGATTGAGGACTTTCCCCGCTTTCCTCACCGGGGCTTGCTGTTGGATACATCTCGCCATTA
368489876	39056	NM_002052.4(GATA4):c.1075G>A (p.Glu359Lys)	GATA4	Nov 01, 2008	MedGen:C3280777,OMIM:614429	Ventricular septal defect 1	germline	8	11757012	AACTCCAGCAACGCCACCACCAGCAGCAGCGAGGAGATGCGTCCCATCAAGACGGAGCCTG
199476201	47857	NM_207352.3(CYP4V2):c.1169G>A (p.Arg390His)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186208943	ATCTGGAATGTGTTATTAAGGAGACCCTTCGCCTTTTTCCTTCTGTTCCTTTATTTGCCCG
786204023	185774	NM_005957.4(MTHFR):c.1088G>A (p.Arg363His)	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11794807	CCCACCCCAAGCGCCGAGAGGAAGATGTACGTCCCATCTTCTGGGCCTCCAGACCAAAGAG
104886235	35977	NM_000495.4(COL4A5):c.3481G>A (p.Gly1161Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108666522	TTAGGTGGTGGAGGTCATCCTGGGCAACCAGGGCCTCCAGGCGAAAAAGGCAAACCCGGTC
587779576	107033	NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005405	ACGGTCTCAGTGGAGAACGTGGTCCCCCTGGACCCCAGGGTCTTCCTGGTCTGGCTGGTAC
1064793932	410599	NM_000540.2(RYR1):c.14512-1G>A	RYR1	Jul 17, 2015	MedGen:CN517202	not provided	germline	19	38580369	CGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTG
786204862	187359	NM_000314.6(PTEN):c.493-1G>A	PTEN	Feb 04, 2016	MedGen:CN517202	not provided	germline	10	87952117	ATTTGGCTTCTCTTTTTTTTCTGTCCACCAGGGAGTAACTATTCCCAGTCAGAGGCGCTAT
398123172	415590	NM_000152.4(GAA):c.2105G>A (p.Arg702His)	GAA	Aug 21, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002;MedGen:CN517202	Glycogen storage disease, type II;not provided	germline	17	80113282	AGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACT
-1	485949	NM_001844.4(COL2A1):c.2582G>A (p.Gly861Asp)	COL2A1	Mar 15, 2016	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Skeletal dysplasia	germline	12	47980597	AAGGAGAGGCCGGCCAGAAAGGCGATGCTGGTGCCCCTGGTCCTCAGGGCCCCTCTGGAGC
397515347	18209	NM_000187.3(HGD):c.16-1G>A	HGD	Dec 21, 2015	MedGen:C0002066,OMIM:203500,Orphanet:ORPHA56	Alkaptonuria	germline;unknown	3	120675864	ATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCT
180177198	200467	NM_000030.2(AGXT):c.323G>A (p.Trp108Ter)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869327	ACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCG
137852612	24500	NM_000211.4(ITGB2):c.505G>A (p.Gly169Arg)	ITGB2	Jul 01, 1990	MedGen:C0272187	Leukocyte adhesion deficiency	germline	21	44901728	CCCAGCCCCTCCATGTGCCCTGCAGGCTTCGGGTCCTTCGTGGACAAGACCGTGCTGCCGT
121908530	20689	NM_000030.2(AGXT):c.466G>A (p.Gly156Arg)	AGXT	Jan 14, 2016	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline;unknown	2	240871391	CACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCC
863225236	214293	NM_153704.5(TMEM67):c.2801G>A (p.Gly934Glu)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688	Joubert syndrome 6	unknown	8	93815341	GTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTTATTTTTGATCT
199473606	196892	NM_198056.2(SCN5A):c.4035G>A (p.Trp1345Ter)	SCN5A	Oct 15, 2012	MedGen:CN517202	not provided	germline	3	38560357	GAACGTCCTCCTCGTCTGCCTCATCTTCTGGCTCATCTTCAGCATCATGGGCGTGAACCTC
1057519437	362152	NM_001005463.2(EBF3):c.512G>A (p.Gly171Asp)	EBF3	-	Human Phenotype Ontology:HP:0002136,MedGen:C0856863;Human Phenotype Ontology:HP:0002376,MedGen:C1855009;Human Phenotype Ontology:HP:0001290,MedGen:C1858120;Human Phenotype Ontology:HP:0000011,MedGen:C0005697;Human Phenotype Ontology:HP:0000110,MedGen:C3536714,Orphanet:ORPHA93108	Broad-based gait;Developmental regression;Generalized hypotonia;Neurogenic bladder;Renal dysplasia	de novo	10	129957300	ACAGCCGGTGCTGTGACAAGAAAAGTTGTGGCAATAGAAACGAAACGCCCTCAGACCCTGT
148690740	175926	NM_144672.3(OTOA):c.1880+1G>A	OTOA	Oct 30, 2013	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	16	21722979	TATGCCACCTTTCCTCTTGGCTGCACTCCCGTAAGTGAACATCAGCCCCCACCTTCTGGCT
767070218	414278	NM_001204.6(BMPR2):c.1276+1G>A	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532733	TATTTATGAGATGTACAGACCTCTTCCCAGGTAAAAACTACTGTCAAAAGTTGATATTTTT
779650200	360009	NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter)	MYBPC3	Nov 01, 2016	MedGen:CN517202	not provided	germline	11	47333267	ACGCCTGGGGTCTTAATGTGGCTCTGGAGTGGAAGCCACCCCAGGATGTCGGCAACACGGA
61749438	22922	NM_000350.2(ABCA4):c.2565G>A (p.Trp855Ter)	ABCA4	Jan 01, 1998	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94055133	TGATGCTGCTGTCTATGGCTTACTCGCTTGGTACCTTGATCAGGTGTTTCCAGGTAAGCAT
886039699	259839	NM_020732.3(ARID1B):c.3550+1G>A	ARID1B	Jul 28, 2016	MedGen:CN517202	not provided	germline	6	157184436	AGCAGCCCAAGCTCCAGCCGCCATCTCCTGGTAAGTGGCGGCGCTGCAGTCACTGGCCCAG
398124128	100859	NM_004369.3(COL6A3):c.6282+1G>A	COL6A3	Aug 11, 2016	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090;MedGen:CN517202	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided	germline	2	237360087	CAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTG
28940580	17589	NM_000243.2(MEFV):c.2040G>A (p.Met680Ile)	MEFV	Jul 13, 2017	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:CN517202;MedGen:CN169374	Familial Mediterranean fever;not provided;not specified	germline	16	3243447	CAAGACATCCATAAGCAGGAAAGGGAACATGACTCTGTCGCCAGAGAATGGCTACTGGGTG
148969222	51251	NM_000057.3(BLM):c.3558+1G>A	BLM	Mar 28, 2013	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006	Bloom syndrome	not provided	15	90803721	GCCCAAACTGTACTAAATGGCAATTTAAAGGTATAGTATTTTTCATGTTTATTTTATTATC
273585647	49403	NM_000084.4(CLCN5):c.1537G>A (p.Gly513Arg)	CLCN5	Aug 09, 2012	MedGen:C1848336,OMIM:300009	Dent disease 1	not provided	X	50090118	TGAGTAGACTGTGTCTATTTCTTTGCAGGTGGGGTGACTCGGATGACTGTTTCTCTTGTTG
796065052	204403	NM_007315.3(STAT1):c.1151G>A (p.Gly384Asp)	STAT1	Nov 15, 2014	MedGen:C3279990,OMIM:614162,Orphanet:ORPHA391487	Immunodeficiency 31C	germline	2	190986924	TGTATAGATTTAGGAAGTTCAACATTTTGGGCACGCACACAAAAGTGATGAACATGGAGGA
587776904	40153	NM_001257133.1(COX14):c.57G>A (p.Met19Ile)	COX14	Jan 13, 2012	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	12	50120100	CATTGGCTATAAGACCTTCTCTACCTCCATGATGCTTCTCACTGTGTATGGGGGGTACCTC
397516539	52970	NM_001035.2(RYR2):c.506G>A (p.Arg169Gln)	RYR2	Dec 12, 2014	MedGen:C1631597,Orphanet:ORPHA3286;MedGen:CN517202	Catecholaminergic polymorphic ventricular tachycardia;not provided	germline	1	237377365	GGTGGACCATACACCCTGCCTCTAAGCAGCGATCAGAAGGAGAAAAAGTACGAGTTGGAGA
121917980	79462	NM_006920.4(SCN1A):c.5314G>A (p.Ala1772Thr)	SCN1A	Aug 17, 2017	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline;unknown	2	165991928	TCCTTCCTGGTTGTGGTGAACATGTACATCGCGGTCATCCTGGAGAACTTCAGTGTTGCTA
121909745	31135	NM_000340.1(SLC2A2):c.1259G>A (p.Trp420Ter)	SLC2A2	Jan 01, 2000	MedGen:C3495427,OMIM:227810,Orphanet:ORPHA2088,SNOMED CT:61598006	Fanconi-Bickel syndrome	germline	3	170998308	TCTTTGAAATTGGGCCAGGCCCGATCCCCTGGTTCATGGTGGCTGAGTTTTTCAGTCAAGG
1085307349	414303	NM_001204.6(BMPR2):c.1413+1G>A	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202542448	TTCCCAGAAGCCTGGAAAGAAAATAGCCTGGTAAGAAAAAACTAAGTTATTAAAGAGAGGA
104894087	24030	NM_000349.2(STAR):c.749G>A (p.Trp250Ter)	STAR	May 01, 1999	MedGen:C0342474,OMIM:201710,Orphanet:ORPHA90790,SNOMED CT:44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency	germline	8	38144382	CCAAATTCTCCTACCTCCTACTGCAGGGGTGGCTGCCCAAGAGCATCATCAACCAGGTCCT
104894125	27840	NM_004959.4(NR5A1):c.234G>A (p.Met78Ile)	NR5A1	Mar 01, 2007	MedGen:C2751824,OMIM:612965,Orphanet:ORPHA98085	46,XY sex reversal, type 3	germline	9	124503089	CCGCTTCCAGAAATGCCTGACGGTGGGGATGCGCCTGGAAGGTGCGCGCCGCGCGGGCCTC
767898276	199852	NM_013254.3(TBK1):c.1340+1G>A	TBK1	May 01, 2015	MedGen:C4225325,OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	germline	12	64486018	ATTAATGCGAAAGGGGATACGATGGCTGATGTAAGTAATAGATTGAAATTTTGAAATTGAT
869320656	227099	NM_172250.2(MMAA):c.562+1G>A	MMAA	May 18, 2015	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145642486	CTGTGGACCCTTCTTCTTGTACTAGTGGTGGTAAGTATGGCTGATTCTTTTTCAATTGCAG
386834205	71426	NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter)	TMEM67	Feb 23, 2015	MedGen:C1853153,OMIM:610688;MedGen:C1846357,OMIM:607361	Joubert syndrome 6;Meckel syndrome type 3	unknown	8	93772612	TTTACAGGGCATGTCTTTAACTTCAGAATGGTTTGCAAAGTATTTGCAATCATCAGCAGCT
387907134	40147	NM_016464.4(TMEM138):c.376G>A (p.Ala126Thr)	TMEM138	Feb 24, 2012	MedGen:C3280906,OMIM:614465	Joubert syndrome 16	germline	11	61367998	CTTCAAATGCTGTTTGTATTCCAGAGACTAGGTAAGGACCAGAGCAAGGTCAGGCCTCTCT
74315422	16231	NM_001029871.3(RSPO4):c.353G>A (p.Cys118Tyr)	RSPO4	Nov 01, 2006	MedGen:C0265998,OMIM:206800,Orphanet:ORPHA79143,SNOMED CT:23610003	Anonychia	germline	20	967230	AGAGGCAGTTTTACTTGTACAAGGGGAAGTGTCTGCCCACCTGCCCGCCGGGCACTTTGGC
483353063	143142	NM_001164342.2(ZBTB20):c.1876G>A (p.Val626Met)	ZBTB20	-	MedGen:C0796121,OMIM:259050,Orphanet:ORPHA3042	Primrose syndrome	not provided	3	114339355	TCCTTAAAGGATTACCTTATCAAGCACATGGTGACACACACAGGAGTGAGGGCATACCAGT
146093755	260138	NM_000512.4(GALNS):c.415G>A (p.Gly139Ser)	GALNS	Nov 27, 2015	MedGen:CN517202	not provided	germline	16	88840999	AAGAAGGCCGGCTACGTCAGCAAGATTGTCGGCAAGTGGTAAGTCTCCTGGCCACGCCTGC
281874704	35899	NM_000495.4(COL4A5):c.2731G>A (p.Gly911Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108621856	ATGGGACCTCCAGGCCCACCAGGACCTTTGGGAATTCCTGGCAGGAGTGGTGTACCTGGTC
387906603	38582	NM_001846.3(COL4A2):c.3110G>A (p.Gly1037Glu)	COL4A2	Jan 13, 2012	MedGen:C3280970,OMIM:614483	Porencephaly 2	germline	13	110485739	GGAGGCCCGGCCACATCAAAGGAGTCAAGGGAGACATCGGAGTCCCCGGCATCCCCGGTTT
62516146	108608	NM_000277.2(PAH):c.842+5G>A	PAH	Dec 02, 2015	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852810	TCCAAGCCCATGTATACCCCCGAACCGTGAGTACTGTCCTCCAGCTACCAGTTGCCAGGCA
397514712	71462	NM_015915.4(ATL1):c.1244G>A (p.Arg415Gln)	ATL1	Mar 21, 2017	MedGen:C2931355,OMIM:182600,Orphanet:ORPHA100984;MedGen:CN517202	Spastic paraplegia 3;not provided	germline	14	50628155	TGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAAT
587779431	106863	NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008108	GTGGACATCCAGGTCCCATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATC
207460000	24720	m.15150G>A	MT-CYB	Jul 01, 2001	MedGen:C0241885	Exercise intolerance	germline	MT	15150	CAACAGCCTTCATAGGCTATGTCCTCCCGTGAGGCCAAATATCATTCTGAGGGGCCACAGT
863225016	213889	NM_004006.2(DMD):c.94-1G>A	DMD	Nov 04, 2014	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32849821	GTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTC
794727897	195863	NM_000271.4(NPC1):c.1142G>A (p.Trp381Ter)	NPC1	Dec 16, 2015	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline;unknown	18	23556427	TCCGGGTCACAACCAATCCAGTTGACCTCTGGTCAGCCCCCAGCAGCCAGGCTCGCCTGGA
121918039	28556	NM_000297.3(PKD2):c.1139G>A (p.Trp380Ter)	PKD2	May 31, 1996	MedGen:C2751306,OMIM:613095	Polycystic kidney disease 2	germline	4	88043277	GTGAAAAAGACTTGAATGGTAGTAGCCACTGGGGAATCATTGCAACTTATAGTGGAGCTGG
72658152	32297	NM_000089.3(COL1A2):c.1981G>A (p.Gly661Ser)	COL1A2	Mar 01, 1996	MedGen:C0029458,OMIM:166710,SNOMED CT:102447009	Postmenopausal osteoporosis	germline	7	94418508	GCTCTTGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCA
863223432	210421	NM_000071.2(CBS):c.969G>A (p.Trp323Ter)	CBS	Nov 20, 2015	MedGen:C3150344,OMIM:236200;MedGen:CN517202	Homocystinuria due to CBS deficiency;not provided	germline	21	43062381	GTGGGGTCCTGCTCAGGTGGTGGACAAGTGGTTCAAGAGCAACGATGAGGAGGCGTTCACC
773136605	193213	NM_138694.3(PKHD1):c.2854G>A (p.Gly952Arg)	PKHD1	Sep 05, 2016	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline;maternal	6	52043102	GGTGACATCAACCTAATGATTTACATTACCGGAACTGGTTTCTCTGGTGACTCCCAGTTCT
794726763	187717	NM_001165963.1(SCN1A):c.5222G>A (p.Cys1741Tyr)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	165992053	CACCCATTCTCAACAGTAAGCCACCCGACTGTGACCCTAATAAAGTTAACCCTGGAAGCTC
886042093	265304	NM_001130987.1(DYSF):c.1372G>A (p.Gly458Arg)	DYSF	Jan 15, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71528393	GTGGACCCCTTTGTGGAGGTCAGCTTTGCGGGGAAAATGGTAAGGAGCAAGGGAGCAGGAG
67865220	413955	NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser)	COL1A2	Sep 25, 2016	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;Osteogenesis imperfecta type I	germline;maternal	7	94409795	CGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAA
587776921	48092	NM_004826.3(ECEL1):c.590G>A (p.Gly197Asp)	ECEL1	Feb 04, 2013	MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457;MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457	Arthrogryposis, distal, type 5d;Arthrogryposis, distal, type 5d	germline;inherited	2	232486064	GCCTCGACATGCGCGAGATCGAGCGACTGGGCCCGCGACCCATGCTAGAGGTCATCGAGGA
1085307355	414310	NM_001204.6(BMPR2):c.1451G>A (p.W484*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202552753	GGTCACTCAAGGAGACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGC
72653172	32336	NM_000088.3(COL1A1):c.3073G>A (p.Gly1025Arg)	COL1A1	Jun 01, 1990	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50188768	CAGGGGGCTCCTGGTGCCGAAGGTTCCCCTGGACGAGACGGTTCTCCTGGCGCCAAGGTAA
121917894	28169	NM_000536.3(RAG2):c.686G>A (p.Arg229Gln)	RAG2	May 01, 2001	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006;MedGen:C1867362	Histiocytic medullary reticulosis;Severe combined immunodeficiency, B cell-negative	germline	11	36593483	TAGGAGGACATTCACTTGCCAATAATATCCGGCCTGCCAACCTGTACAGAATAAGGGTTGA
779323689	186892	NM_000053.3(ATP7B):c.2828G>A (p.Gly943Asp)	ATP7B	Feb 16, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51949699	CTTTGACGTTGGTGGTATGGATTGTAATCGGTTTTATCGATTTTGGTGTTGTTCAGAGATA
121912838	32485	NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser)	COL7A1	Oct 22, 2015	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004;MedGen:CN517202	Recessive dystrophic epidermolysis bullosa;not provided	germline	3	48575428	CTTGGGGAGAGGGGCCCCCCCGGGCCTTCCGGCCTTGCCGGGGAGCCTGGAAAGCCTGGTA
118204085	16549	NM_000298.5(PKLR):c.1436G>A (p.Arg479His)	PKLR	Apr 14, 2017	MedGen:C1849472,OMIM:266200;MedGen:CN169374	Pyruvate kinase deficiency of red cells;not specified	germline	1	155293177	CTGCCATCATTGTGCTGACCACAACTGGCCGGTGAGGGGGATATTGGGAATGTCCAGATGG
121964969	15164	NM_000071.2(CBS):c.797G>A (p.Arg266Lys)	CBS	Oct 18, 2016	MedGen:C3150344,OMIM:236200;MedGen:CN068394	Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive	germline	21	43063931	GCACGGGCGGCACCATCACGGGCATTGCCAGGAAGCTGAAGGAGAAGTGTCCTGGATGCAG
886042043	264471	NM_001844.4(COL2A1):c.2536G>A (p.Gly846Arg)	COL2A1	Oct 14, 2016	MedGen:CN517202	not provided	germline	12	47980643	TTCCCATTATAGGGTGCTGATGGCCAGCCTGGGGCCAAGGGTGAGCAAGGAGAGGCCGGCC
28934897	26968	NM_000431.3(MVK):c.1129G>A (p.Val377Ile)	MVK	Oct 24, 2017	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:C1959626,OMIM:610377,Orphanet:ORPHA29;MedGen:CN517202;MedGen:CN169374	Hyperimmunoglobulin D with periodic fever;Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria;not provided;not specified	germline;paternal	12	109596515	TGCTTGGAAACCAGCATCGGTGCCCCCGGCGTCTCCATCCACTCAGCCACCTCCCTGGACA
72657697	427063	NM_001171.5(ABCC6):c.619G>A (p.Gly207Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16212228	TGTCTGTTGCAGAACCCCTGTCCAGAGACTGGGGCAGCCTTCCCCTCCAAAGCCACGTTCT
80359071	67203	NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp)	BRCA2	Aug 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	13	32363445	CTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACT
180177298	200585	NM_000030.2(AGXT):c.943-1G>A	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240878021	ACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTG
104886223	35948	NM_000495.4(COL4A5):c.3247G>A (p.Gly1083Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108655331	TCAGTATTATCTTTTTATTCGTGTTTTCAGGGTGAGCCTGGTCTGCCTGGATACCCAGGGA
267607486	265471	NM_001927.3(DES):c.735G>A (p.Glu245=)	DES	Aug 26, 2015	MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909;MedGen:CN517202	Myofibrillar myopathy 1;not provided	germline	2	219420346	GATCGCGTTCCTTAAGAAAGTGCATGAAGAGGTATACCTTGGCCCCTCTTCCTGGGGTCAC
876657688	230451	NM_000115.4(EDNRB):c.618G>A (p.Trp206Ter)	EDNRB	Dec 09, 2015	MedGen:C3266898,Orphanet:ORPHA3440,SNOMED CT:47434006	Waardenburg syndrome	germline	13	77903339	TATCTTCAGATATCGAGCTGTTGCTTCTTGGAGTAGAATTAAAGGAATTGGGGTTCCAAAA
201672011	32899	NM_000041.3(APOE):c.91G>A (p.Glu31Lys)	APOE	Nov 01, 1992	na;MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED CT:398796005	APOE5 VARIANT;Familial type 3 hyperlipoproteinemia	germline	19	44907807	GAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCG
398122918	48437	NM_002768.4(CHMP1A):c.28-13G>A	CHMP1A	Nov 01, 2012	MedGen:C3554209,OMIM:614961,Orphanet:ORPHA324569	Pontocerebellar hypoplasia type 8	germline	16	89651659	GGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTG
76173977	18959	NM_000520.5(HEXA):c.1073+1G>A	HEXA	Nov 02, 2017	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Tay-Sachs disease;not provided	germline;unknown	15	72348047	CAAGCAGCTGGAGTCCTTCTACATCCAGACGTGAGGAAGGAAGGAGGGTGGGTGGGGTCCC
-1	467386	NM_000267.3(NF1):c.3113+5G>A	NF1	Feb 28, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31230387	TCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCTCAAAAGAGCAATGTAGGGTCTTGTAA
121909079	22385	NM_004637.5(RAB7A):c.484G>A (p.Val162Met)	RAB7A	Mar 01, 2003	MedGen:C1833219,OMIM:600882,Orphanet:ORPHA99936;MedGen:CN517202	Charcot-Marie-Tooth disease, axonal, type 2b;not provided	germline	3	128807627	TTTGAGACCAGTGCCAAGGAGGCCATCAACGTGGAGCAGGCGTTCCAGACGATTGCACGGA
137853248	29957	NM_005529.6(HSPG2):c.4595G>A (p.Cys1532Tyr)	HSPG2	Mar 01, 2007	MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800	Schwartz Jampel syndrome type 1	germline	1	21864874	CCCGCGCCCTCGAGGTGGAGGAGTGCCGCTGCCCGCCAGGCTACATCGGTCTGTCCTGCCA
782308462	262040	NM_005918.3(MDH2):c.109G>A (p.Gly37Arg)	MDH2	Feb 08, 2017	MedGen:CN240510,OMIM:617339;MedGen:CN238762	Epileptic encephalopathy, early infantile, 51;Infantile encephalopathy	germline;not applicable	7	76054872	GTAGCTGTGCTAGGGGCCTCTGGAGGCATCGGGCAGCCACTTTCACTTCTCCTGAAGAACA
104886086	35690	NM_000495.4(COL4A5):c.956G>A (p.Gly319Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108582903	ATGTTTTAAAGGGTTTGCCTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGA
104893823	27480	NM_003280.2(TNNC1):c.476G>A (p.Gly159Asp)	TNNC1	Sep 22, 2017	MedGen:C2678475,OMIM:611879;MedGen:CN517202	Dilated cardiomyopathy 1Z;not provided	germline	3	52451285	TTTCCACAGAGTTCCTGGAGTTCATGAAGGGTGTGGAGTAGATGCTGACCTTCACCCAGAG
104894966	24783	NM_003140.2(SRY):c.337G>A (p.Ala113Thr)	SRY	Aug 01, 1993	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787267	GAAGCCGAAAAATGGCCATTCTTCCAGGAGGCACAGAAATTACAGGCCATGCACAGAGAGA
374828868	380480	NM_001145860.1(POP1):c.1748G>A (p.Gly583Glu)	POP1	Apr 10, 2017	MedGen:CN241834,OMIM:617396	Anauxetic dysplasia 2	germline	8	98148852	ACCGGATGAGGAGTGAATTGCTGGTGCCTGGGTCACAGCTTATTTTAGGTCCCCATGAATC
121912476	29697	NM_000424.3(KRT5):c.1252G>A (p.Glu418Lys)	KRT5	Jun 28, 2002	MedGen:C1832926,OMIM:601001;MedGen:CN517202	Epidermolysis bullosa simplex, autosomal recessive;not provided	germline	12	52516824	GCCAATCTGCAGAACGCCATTGCGGATGCCGAGCAGCGTGGGGAGCTGGCCCTCAAGGATG
121909724	31203	NM_002437.4(MPV17):c.359G>A (p.Trp120Ter)	MPV17	May 17, 2012	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229	Navajo neurohepatopathy	germline	2	27312510	CACTTAATGGACTGTCAGCCCAGGACAACTGGGCCAAACTACAGCGGGTGAGCTGGGCAGG
201105857	48168	NM_153373.3(PHYKPL):c.718G>A (p.Gly240Arg)	PHYKPL	Nov 01, 2013	MedGen:C3554344,OMIM:615011	Phosphohydroxylysinuria	germline	5	178222564	CTCCTCTGCCACAGGCACATCCGCAAGGCCGGAGGGGTCTTTGTTGCAGATGAGATCCAGG
886041886	264495	NM_130466.3(UBE3B):c.941-1G>A	UBE3B	Jul 27, 2016	MedGen:CN517202	not provided	germline	12	109499632	GCCCATCACACTCAGCCTTCTCTCTCTGTAGGCAACCTCCTACACTTGGGCTCCCTCAGCC
201947677	16122	NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His)	NOBOX	Sep 01, 2007	MedGen:C1969060,OMIM:611548	Premature ovarian failure 5	germline	7	144399847	CTTTCCCCCCATAGGTGTGGTTCCAGAATCGCCGGGCCAAGTGGCGAAAAATGGAGAAACT
137852571	24856	NM_000044.4(AR):c.2191G>A (p.Val731Met)	AR	Apr 01, 1995	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	unknown	X	67717495	TCTTCTTCTCCAGGCTTCCGCAACTTACACGTGGACGACCAGATGGCTGTCATTCAGTACT
72554331	26045	NM_000531.5(OTC):c.236G>A (p.Gly79Glu)	OTC	Feb 01, 2002	MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008;MedGen:CN517202	Ornithine carbamoyltransferase deficiency;not provided	germline;unknown	X	38369815	TTGATTTATAGTATTTGCCTTTATTGCAAGGGAAGTCCTTAGGCATGATTTTTGAGAAAAG
121912918	32256	NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu)	COL3A1	Jan 01, 1992	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008135	CAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGGTAAGACATCACTTATACGTATG
387907305	45850	NM_003036.3(SKI):c.101G>A (p.Gly34Asp)	SKI	Feb 01, 2015	MedGen:C1321551,OMIM:182212,SNOMED CT:83092002	Shprintzen-Goldberg syndrome	de novo;unknown	1	2228867	TCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCA
1064796819	411392	NM_005710.2(PQBP1):c.641+1G>A	PQBP1	Mar 10, 2017	MedGen:CN517202	not provided	germline	X	48902796	GGACCCTAGCTCATACTCAGACGCCCCCCGGTAAGTGACAACCCCTCTTGACTCAGTACGT
193302904	222911	NM_000202.7(IDS):c.592G>A (p.Asp198Asn)	IDS	May 17, 2010	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	de novo	X	149498223	GTGCTGGATGTTCCCGAGGGCACCTTGCCTGACAAACAGAGCACTGAGCAAGCCATACAGT
886039481	259907	NM_000318.2(PEX2):c.740G>A (p.Cys247Tyr)	PEX2	Aug 14, 2017	MedGen:CN517202	not provided	germline	8	76983439	TAGCCACCAGTGGCAAAGAATGCGCTCTATGTGGAGAGTGGCCCACCATGCCTCACACCAT
267606947	18911	NM_006623.3(PHGDH):c.781G>A (p.Val261Met)	PHGDH	May 01, 2009	MedGen:C1866174,OMIM:601815	Phosphoglycerate dehydrogenase deficiency	germline	1	119735432	TCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTC
886044231	273888	NM_001848.2(COL6A1):c.932G>A (p.Gly311Asp)	COL6A1	Aug 15, 2016	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090;MedGen:CN517202	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided	germline	21	45990259	CCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAG
786205164	187949	NM_004935.3(CDK5):c.580+1G>A	CDK5	May 05, 2015	MedGen:C4225359,OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	germline	7	151055276	ACATGTGGTCAGCCGGCTGCATCTTTGCAGGTGATGTGCTGGGGTGTTGCAGAGGCACCTT
794726877	190226	NM_000203.4(IDUA):c.152G>A (p.Gly51Asp)	IDUA	Feb 11, 2016	Human Phenotype Ontology:HP:0000943,MedGen:C0086795,OMIM:607014,Orphanet:ORPHA93473;MedGen:C0023786,Orphanet:ORPHA579	Hurler syndrome;Mucopolysaccharidosis type I	germline	4	987236	GGCCCCTGCGGCGCTTCTGGAGGAGCACAGGCTTCTGGTGAGCGCTCCGCGGCCTCCGGGA
80358048	131394	NM_007294.3(BRCA1):c.5468-1G>A	BRCA1	May 05, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43045803	ACTAATCTCTGCTTGTGTTCTCTGTCTCCAGCAATTGGGCAGATGTGTGAGGCACCTGTGG
886039583	260299	NM_000444.5(PHEX):c.1079+1G>A	PHEX	Jul 07, 2016	MedGen:CN517202	not provided	germline	X	22099152	GTTTAGGATATTAGGGTCTGAGAGAAAGAAGTAAGAACTTTCACATGAATTTTACTGTGAC
104894443	24326	NM_000161.2(GCH1):c.633G>A (p.Met211Ile)	GCH1	Apr 28, 1995	MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:23447005	GTP cyclohydrolase I deficiency	germline	14	54844137	AACCTGTGTTGCCTTATTTTGTAGACACATGTGTATGGTAATGCGAGGTGTACAGAAAATG
281874680	47363	NM_000495.4(COL4A5):c.1835G>A (p.Gly612Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598757	GAGGTCCCCCTGGGAACCCAGGTTTACCAGGCCTCCCAGGGAATATAGGGCCTATGGGTCC
142326926	76619	NM_014336.4(AIPL1):c.784G>A (p.Gly262Ser)	AIPL1	Mar 30, 2016	MedGen:C1858386,OMIM:604393;MedGen:CN517202	Leber congenital amaurosis 4;not provided	germline	17	6426615	CACACCAGTGATATTCTCCGGCACCACCCAGGTGCGCGGGGCTGCAGGGGCGGACAGTGAG
-1	439883	NM_001197104.1(KMT2A):c.11071+1G>A	KMT2A	Aug 09, 2017	MedGen:C1854630,OMIM:605130,Orphanet:ORPHA319182	Wiedemann-Steiner syndrome	unknown	11	118510119	GCTTTCAGATCTGTGCAGAAAGTATTGAAGGTGAGTGGATTAAATCAGGTTGACCCATCAG
797044437	20899	NM_022336.3(EDAR):c.803+1G>A	EDAR	Oct 15, 2008	MedGen:C0406702,OMIM:224900,Orphanet:ORPHA248,SNOMED CT:27025001	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	germline	2	108910459	GACAGCAACTCCAGCAAAGCCCACCAAGAGGTATGTGGAAGCCCCCAGCACCAAGCTGAAG
397514755	75599	NM_001193333.2(CORO1A):c.400G>A (p.Val134Met)	CORO1A	Jun 01, 2013	MedGen:C3809383,OMIM:615401,Orphanet:ORPHA228003	Immunodeficiency 8	germline	16	30186894	GTCGTCACCCTGGAGGGCCACACCAAGCGTGTGGGCATTGTGGCCTGGCACACCACAGCCC
397515421	48364	NM_017909.3(RMND1):c.1250G>A (p.Arg417Gln)	RMND1	Dec 22, 2015	MedGen:C3554067,OMIM:614922,Orphanet:ORPHA324535;MedGen:C0751651,Orphanet:ORPHA68380	Combined oxidative phosphorylation deficiency 11;Mitochondrial diseases	germline	6	151405787	AGCACTGCATGGAACTAACAGATCTAATGCGGAATCACCTGAATGAGAAGAGGGCACTCCG
137852418	25264	NM_000132.3(F8):c.1649G>A (p.Arg550His)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154957060	CAACTAAATCAGATCCTCGGTGCCTGACCCGCTATTACTCTAGTTTCGTTAATATGGAGAG
121918237	16470	NM_001177317.1(SLC34A3):c.586G>A (p.Gly196Arg)	SLC34A3	Feb 01, 2006	MedGen:C0342645,OMIM:241530,SNOMED CT:237891005	Autosomal recessive hypophosphatemic bone disease	germline	9	137233234	CACAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCC
886039474	260326	NM_003688.3(CASK):c.609G>A (p.Trp203Ter)	CASK	Apr 04, 2015	MedGen:CN517202	not provided	germline	X	41665376	AGAGCCTTACGGAAAGCCTGTAGACGTCTGGGGGTGCGGTGTGATCCTTTTTATCCTGCTC
886042238	266054	NM_006517.4(SLC16A2):c.576-1G>A	SLC16A2	Jul 09, 2015	MedGen:C0795889,OMIM:300523,Orphanet:ORPHA59	Allan-Herndon-Dudley syndrome	germline	X	74524358	CTGAGGACAGCTCTTGGTATTTCTCCCACAGCTCCCTAAGCCTGCGCTACTTCACCTACGG
370356566	359546	NM_001099287.1(NIPAL4):c.688G>A (p.Gly230Arg)	NIPAL4	May 26, 2016	MedGen:CN517202	not provided	germline	5	157471733	GGGAAGCTGGGCTGTGTGATCTGTGTGGCCGGAAGCACAGTGATGGTGATACATGCTCCTG
201540674	51186	RTEL1:c.2402G>A (p.Arg801His)	RTEL1	Sep 25, 2017	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008;MedGen:C3554656,OMIM:615190;MedGen:C1800706,OMIM:178500,Orphanet:ORPHA79126,SNOMED CT:28168000;MedGen:C4225346,OMIM:616373;MedGen:CN517202	Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive, 5;Idiopathic fibrosing alveolitis, chronic form;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3;not provided	germline;inherited;unknown	20	63695619	CCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCA
755910254	275418	NM_001793.5(CDH3):c.1085G>A (p.Trp362Ter)	CDH3	Sep 09, 2016	MedGen:C1832162,OMIM:601553,Orphanet:ORPHA1573	Juvenile macular degeneration and hypotrichosis	germline	16	68682390	CTGATCTGGACGCCCCCAACTCACCAGCGTGGCGTGCCACCTACCTTATCATGGGCGGTGA
118192119	76843	NM_000540.2(RYR1):c.1534G>A (p.Glu512Lys)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38455328	TTTGCTGAGTTTGCAGGGGAGGAGGCAGCCGAGTCCTGGAAAGAGATTGTGAATCTTCTCT
671	33429	NM_000690.3(ALDH2):c.1510G>A (p.Glu504Lys)	ALDH2	Apr 04, 2013	MedGen:C2674838,OMIM:610251;MedGen:C0001973,OMIM:103780;MedGen:C3149226;MedGen:C2676227;MedGen:C2608086	Acute alcohol sensitivity;Alcohol dependence;Esophageal cancer, alcohol-related, susceptibility to;Sublingual nitroglycerin, susceptibility to poor response to;Susceptibility to hangover	germline	12	111803962	TTGGGCGAGTACGGGCTGCAGGCATACACTGAAGTGAAAACTGTGAGTGTGGGACCTGCTG
144133667	39586	NM_006859.3(LIAS):c.746G>A (p.Arg249His)	LIAS	Dec 09, 2011	MedGen:C3280887,OMIM:614462,Orphanet:ORPHA401859	Pyruvate dehydrogenase lipoic acid synthetase deficiency	germline	4	39470027	CAACAGTCCTGCTGTTTTCCAGTAAGGTTCGTGATCCTCGGGCCAATTTTGATCAGTCCCT
879254522	245558	NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;not applicable	19	11105334	ACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTT
104886294	36093	NM_000495.4(COL4A5):c.4614G>A (p.Trp1538Ter)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108692851	CTTTGCTTCAAGAAATGACTATTCTTACTGGCTCTCTACCCCAGAGCCCATGCCAATGAGC
1057519634	362624	NM_031267.3(CDK13):c.2252G>A (p.Arg751Gln)	CDK13	Feb 24, 2017	MedGen:CN240690,OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	germline	7	40001930	AAAAGGAAGGCTTTCCAATTACAGCAATTCGAGAAATTAAAATTCTCCGGCAGCTTACCCA
104894420	22713	NM_002312.3(LIG4):c.1406G>A (p.Gly469Glu)	LIG4	Dec 01, 2001	MedGen:C1847827,OMIM:606593,Orphanet:ORPHA99812	Lig4 syndrome	germline	13	108209863	TGGATGAATTGGACATTTTAATTGTTGGAGGATATTGGGGTAAAGGATCACGGGGTGGAAT
776421777	245368	NM_000527.4(LDLR):c.91G>A (p.Glu31Lys)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11100246	CTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCT
111033758	36586	NM_000155.3(GALT):c.747G>A (p.Trp249Ter)	GALT	Oct 03, 2016	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	unknown	9	34648821	GTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGG
587779678	107183	NM_000090.3(COL3A1):c.2141G>A (p.Gly714Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999489	CTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCT
724159827	172096	NM_002335.3(LRP5):c.4651G>A (p.Asp1551Asn)	LRP5	Feb 21, 2018	Human Phenotype Ontology:HP:0006557,MedGen:C0158683,OMIM:174050,SNOMED CT:72925005;na	Congenital cystic disease of liver;POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS	germline	11	68448873	ACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCA
387907301	45837	NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr)	XIAP	Oct 02, 2012	MedGen:C1845076,OMIM:300635	Lymphoproliferative syndrome 2, X-linked	germline	X	123886270	GTATTGGTGACCAAGTGCAGTGCTTTTGTTGTGGTGGAAAACTGAAAAATTGGGAACCTTG
202134424	125898	NM_001282227.1(ADA2):c.13G>A (p.Gly5Arg)	ADA2	Mar 06, 2014	MedGen:C3887654,OMIM:615688	Polyarteritis nodosa, childhoood-onset	germline	22	17209539	CTGTTGTTGAAAGAAAAGATGATGCGGCTGGGGGGGCGGCTGGTGCTGAACACCAAGGAGG
104886111	35734	NM_000495.4(COL4A5):c.1276G>A (p.Gly426Arg)	COL4A5	Aug 03, 2017	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917;MedGen:CN517202	Alport syndrome, X-linked recessive;not provided	germline	X	108591168	ATTTCCATTCCTGGACCTCCTGGACTTGACGGACAGCCTGGGGCTCCTGGGCTTCCAGGGC
794726682	40078	NM_015175.2(NBEAL2):c.1823G>A (p.Trp608Ter)	NBEAL2	Jul 17, 2011	MedGen:C0272302,OMIM:139090,SNOMED CT:51720005	Gray platelet syndrome	germline	3	46995558	GGCCAGGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACAGCACC
587777727	165912	NM_032492.3(JAGN1):c.3G>A (p.Met1Ile)	JAGN1	Sep 01, 2014	Human Phenotype Ontology:HP:0005541,MedGen:C1853118,Orphanet:ORPHA42738;MedGen:C4014954,OMIM:616022,Orphanet:ORPHA423384	Severe congenital neutropenia;Severe congenital neutropenia 6, autosomal recessive	germline	3	9890725	AGGGGTTCGGGGGTTCTGGGCAGGCACAATGGCGTCTCGAGCAGGCCCGCGAGCGGCCGGC
144716013	167355	NM_001813.2(CENPE):c.2797G>A (p.Asp933Asn)	CENPE	Dec 07, 2016	MedGen:C4015080,OMIM:616051;MedGen:CN517202	Primary autosomal recessive microcephaly 13;not provided	germline	4	103158691	GAAGTAAAAACTTTAACTCAAGAAAAAGATGATCTAAAACAACTCCAAGAAAGCTTGCAAA
797044487	172113	NM_170707.3(LMNA):c.1968G>A (p.Gln656=)	LMNA	Aug 01, 2015	MedGen:C4016241;MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED CT:238870004	Hutchinson-Gilford progeria syndrome, atypical;Hutchinson-Gilford syndrome	germline	1	156138757	CCTCCTGGGCAACTCCAGCCCCCGAACCCAGGTGAGTTGTCTCTGCTTTGTCTCCAAATCC
367543025	51246	NM_000057.3(BLM):c.3197G>A (p.Cys1066Tyr)	BLM	Mar 28, 2013	MedGen:C0005859,OMIM:210900,Orphanet:ORPHA125,SNOMED CT:4434006	Bloom syndrome	not provided	15	90794344	AGAAACACCCAGATGTTTCTTGTGATAATTGCTGTAAAACAAAGGTAAAAAAAGAAGTTTT
45466296	59084	NM_000548.4(TSC2):c.848+1G>A	TSC2	Oct 13, 2014	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2057179	CTACAACATGTGCCACCTCATGGAGGACAGGTGAGTGTGGTGGGTGGGGCGCAGGGCAGTG
111033647	18650	NM_000155.3(GALT):c.130G>A (p.Val44Met)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34647136	TACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGC
753723351	170950	NM_030777.3(SLC2A10):c.1334G>A (p.Gly445Glu)	SLC2A10	Sep 10, 2014	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342	Arterial tortuosity syndrome	germline	20	46726909	TCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAA
387906918	39458	NM_030928.3(CDT1):c.196G>A (p.Ala66Thr)	CDT1	Feb 27, 2011	MedGen:C3151120,OMIM:613804	Meier-Gorlin syndrome 4	germline	16	88804027	GCCCCCGGACGCGACCAGGCCAGGCCACCGGCCCGCAGGAGACTGCGGCTGTCGGTGGACG
587784239	169388	NM_000430.3(PAFAH1B1):c.1064G>A (p.Ser355Asn)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2680225	TGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATG
398122863	44118	NM_001006658.2(CR2):c.2297G>A (p.Trp766Ter)	CR2	Jul 06, 2012	MedGen:C3542922,OMIM:614699	Common variable immunodeficiency 7	germline	1	207474297	AGATGTGTCAAGATGCTGAAAATGGAATTTGGTTCAAAAAGATTCCACTTTGTAAAGGTAA
121908188	19535	NM_020451.2(SELENON):c.943G>A (p.Gly315Ser)	SELENON	Jul 24, 2017	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:C0410180,OMIM:602771,SNOMED CT:240063002;MedGen:CN517202	Congenital myopathy with fiber type disproportion;Eichsfeld type congenital muscular dystrophy;not provided	germline	1	25809753	CCCTTTTGGTTCTCCCCTGCTCAGTTCACCGGCCACATCATCCTCTCCAAAGACGCCACCC
-1	433247	NM_000267.3(NF1):c.2331G>A (p.Trp777Ter)	NF1	Nov 30, 2016	MedGen:CN169374	not specified	germline	17	31227528	CAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCA
121909740	31153	NM_006516.2(SLC2A1):c.823G>A (p.Ala275Thr)	SLC2A1	Apr 25, 2017	MedGen:CN030711,OMIM:606777;MedGen:C1842534,OMIM:612126,Orphanet:ORPHA98811;MedGen:CN517202	GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;not provided	germline	1	42929637	TCCCCCGCCTACCGCCAGCCCATCCTCATCGCTGTGGTGCTGCAGCTGTCCCAGCAGCTGT
119462983	18283	NM_007171.3(POMT1):c.193G>A (p.Gly65Arg)	POMT1	May 26, 2009	MedGen:C3150415,OMIM:613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	germline	9	131506184	ATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCT
121907945	19075	NM_000152.4(GAA):c.877G>A (p.Gly293Arg)	GAA	Nov 16, 2017	MedGen:CN568813;MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease II, adult form;Glycogen storage disease, type II	germline;inherited	17	80107818	TGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGG
121918231	16477	NM_015697.7(COQ2):c.590G>A (p.Arg197His)	COQ2	Jun 07, 2016	MedGen:CN229570,Orphanet:ORPHA35656;MedGen:C1843920,OMIM:607426	Coenzyme Q10 deficiency, primary;Coenzyme Q10 deficiency, primary 1	germline	4	83273598	TATGTTTTAAGGTTACAAGAACAGCCAATCGTCCAATAGCCGCTGGAGACATTTCAACTTT
121918680	27662	NM_001063.3(TF):c.1180G>A (p.Glu394Lys)	TF	Jan 01, 2002	MedGen:C1859593,OMIM:209300	Atransferrinemia	germline	3	133759306	AAAATAGAGTGTGTATCAGCAGAGACCACCGAAGACTGCATCGCCAAGATCATGGTATGTC
886039903	260857	NM_021032.4(FGF12):c.341G>A (p.Arg114His)	FGF12	Jul 21, 2017	MedGen:C4310685,OMIM:617166;MedGen:CN517202	Epileptic encephalopathy, early infantile, 47;not provided	de novo;germline	3	192335434	CTCTCTTCAATCTAATTCCCGTGGGCCTGCGTGTAGTGGCCATCCAAGGAGTGAAGGCTAG
137854556	79232	NM_001042492.2(NF1):c.3827G>A (p.Arg1276Gln)	NF1	Oct 04, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003;MedGen:CN517202	Neurofibromatosis, type 1;not provided	germline;unknown	17	31235729	AATTGGCAGACTCCATGCAGACTCTCTTCCGAGGCAACAGCTTGGCCAGTAAAATAATGAC
81002883	67455	NM_000059.3(BRCA2):c.9256+1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32380146	GATTTGTCGTTTCTGTTGTGAAAAAAACAGGTAATGCACAATATAGTTAATTTTTTTTATT
201849460	481154	NM_001622.3(AHSG):c.950G>A (p.Arg317His)	AHSG	Feb 01, 2018	Gene:780898,MedGen:C1859878,OMIM:203650	Alopecia mental retardation syndrome 1	germline	3	186620776	ACCAGTTGCACCGGGCGCACTACGACCTGCGCCACACCTTCATGGGTGTGGTCTCATTGGG
886042051	264921	NM_000206.2(IL2RG):c.758-1G>A	IL2RG	Oct 27, 2016	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006;MedGen:CN517202	X-linked severe combined immunodeficiency;not provided	germline	X	71108696	AAGGTCCACTTTGCTTTTCTTTTTTCTATAGAGAATCCTTTCCTGTTTGCATTGGAAGCCG
80358229	19624	NM_030777.3(SLC2A10):c.510G>A (p.Trp170Ter)	SLC2A10	Sep 10, 2014	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342	Arterial tortuosity syndrome	germline	20	46725546	CCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTC
960468382	448072	NM_020451.2(SELENON):c.1469G>A (p.Trp490Ter)	SELENON	Dec 13, 2016	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	Eichsfeld type congenital muscular dystrophy	germline	1	25813962	CCCTGCTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAACTGCA
193922097	44307	NM_000033.3(ABCD1):c.421G>A (p.Ala141Thr)	ABCD1	Feb 03, 2014	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153725687	GGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCA
916516745	420739	NM_003000.2(SDHB):c.654G>A (p.Trp218Ter)	SDHB	Sep 09, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	1	17022719	ATCATCCCTGGTTTTCCAGGCCTATCGCTGGATGATTGACTCCAGAGATGACTTCACAGAG
104894230	27651	NM_005343.3(HRAS):c.35G>A (p.Gly12Asp)	HRAS	Apr 27, 2017	MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008;MedGen:C4016398;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0853032;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Costello syndrome;Costello syndrome, severe;Neoplasm of the breast;Nevus sebaceous;Rasopathy;not provided	germline;somatic;unknown	11	534288	CGGAATATAAGCTGGTGGTGGTGGGCGCCGGCGGTGTGGGCAAGAGTGCGCTGACCATCCA
118204071	16582	NM_000237.2(LPL):c.1081G>A (p.Ala361Thr)	LPL	Mar 31, 1993	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19959322	GGGACTGAGAGTGAAACCCATACCAATCAGGCCTTTGAGATTTCTCTGTATGGCACCGTGG
267606902	29174	NM_022844.2(MYH11):c.2135G>A (p.Arg712Gln)	MYH11	Sep 15, 2017	MedGen:C1851504,OMIM:132900;MedGen:CN118826,Orphanet:ORPHA91387	Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection	germline	16	15748092	ATGGGGTGCTGGAAGGCATTCGCATCTGCCGGCAGGGCTTCCCCAACCGGATCGTCTTCCA
886043139	269799	NM_032581.3(FAM126A):c.415-1G>A	FAM126A	Jan 11, 2016	MedGen:C1864663,OMIM:610532,SNOMED CT:702379005	Hypomyelination and Congenital Cataract	germline	7	22976809	TTTTTTCTTTATTCAAATGTCTTTTCTCTAGCCTTCCAGCATTGGGTCCATGGCTCTGACT
80358028	46222	NM_007294.3(BRCA1):c.5406+1G>A	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43049120	AAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAG
72556258	103085	NM_000531.5(OTC):c.409G>A (p.Ala137Thr)	OTC	-	MedGen:CN517202	not provided	unknown	X	38401297	TGCCACAGTGTATTGTCTAGCATGGCAGATGCAGTATTGGCTCGAGTGTATAAACAATCAG
118204449	15750	NM_000512.4(GALNS):c.689G>A (p.Trp230Ter)	GALNS	Jul 01, 2003	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88835794	AGGCACGGCACCACCCCTTTTTCCTCTACTGGGCTGTCGACGCCACGCACGCACCCGTCTA
886041051	263456	NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr)	LRSAM1	Nov 08, 2016	Gene:431712,MedGen:C3280797,OMIM:614436,Orphanet:ORPHA300319	Charcot-Marie-Tooth disease type 2P	germline	9	127502808	AGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCG
121434300	20517	NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln)	FBLN5	Jun 01, 2011	MedGen:C1837187,OMIM:608895	Age-related macular degeneration 3	germline	14	91937114	ACCAAAATGGCGGGTATTTATGCATTCCCCGGACAAACCCTGTGTATCGAGGGCCCTACTC
-1	482213	NM_172107.3(KCNQ2):c.927+1G>A	KCNQ2	Dec 07, 2017	MedGen:CN517202	not provided	germline	20	63439597	ATCGGTGTCTCCTTCTTCGCGCTGCCTGCAGTAAGTCCAGCTGCCCCTGCCTGCCTTGGAG
587784235	169383	NM_000430.3(PAFAH1B1):c.1002+5G>A	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2676611	GTACTGGCATGTGCCTTATGACCCTCGTAAGTTTGCATAATCTTACCATTTCTTTTGCATC
1014839148	440674	NM_000091.4(COL4A3):c.520G>A (p.Gly174Arg)	COL4A3	Oct 18, 2016	MedGen:CN517202	not provided	germline	2	227248494	GATATAGAACTTGATGCAAAAGGCGACCCCGGGTTGCCAGGGGCTCCAGGACCCCAGGTAC
121909297	23213	NM_000337.5(SGCD):c.784G>A (p.Glu262Lys)	SGCD	Nov 01, 1998	MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219	Limb-girdle muscular dystrophy, type 2F	germline	5	156759301	ACGCCTACAGGAACGAGGCAGAAGGTCTTCGAGATCTGCGTCTGCGCCAATGGGAGATTAT
72645320	32388	NM_000088.3(COL1A1):c.761G>A (p.Gly254Glu)	COL1A1	Apr 01, 2001	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	germline	17	50197053	TCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAAT
57019720	18046	NM_000226.3(KRT9):c.511G>A (p.Val171Met)	KRT9	Jul 30, 2003	Human Phenotype Ontology:HP:0007559,MedGen:C1721006,OMIM:144200,Orphanet:ORPHA2199;MedGen:CN517202	Epidermolytic palmoplantar keratoderma;not provided	germline	17	41571482	AATTCTCGGCTGGCCTCTTACTTGGATAAGGTGCAGGCTCTAGAGGAGGCCAACAACGACC
1064794226	406510	NM_000038.5(APC):c.1778G>A (p.Trp593Ter)	APC	Oct 04, 2017	MedGen:C2713442,OMIM:175100;MedGen:CN517202	Familial adenomatous polyposis 1;not provided	germline	5	112834985	CAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAA
147764579	273881	NM_000070.2(CAPN3):c.1466G>A (p.Arg489Gln)	CAPN3	Jul 06, 2017	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline	15	42401752	GCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCT
796052507	201886	NM_000816.3(GABRG2):c.770-1G>A	GABRG2	Jul 09, 2013	MedGen:CN517202	not provided	germline	5	162142163	GTTGTATGGTGTTATCTTTGGTCTGTTCCAGGAGATTATGTGGTCATGTCTGTCTACTTTG
121908625	21065	NM_001128227.2(GNE):c.1820G>A (p.Gly607Glu)	GNE	Sep 01, 2001	MedGen:C1853926,OMIM:605820	Nonaka myopathy	germline	9	36219927	AACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTG
137852528	24981	NM_000291.3(PGK1):c.802G>A (p.Asp268Asn)	PGK1	Jul 10, 1980	MedGen:C1970848,OMIM:300653,Orphanet:ORPHA713	Phosphoglycerate kinase 1 deficiency	germline	X	78123240	TTTGATGAAGAGGGAGCCAAGATTGTCAAAGACCTAATGTCCAAAGCTGAGAAGAATGGTG
104893879	19550	NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter)	WFS1	Oct 01, 1998	MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009	Diabetes mellitus AND insipidus with optic atrophy AND deafness	germline	4	6301739	GTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAG
142859694	244032	NM_033116.5(NEK9):c.2042G>A (p.Arg681His)	NEK9	Jul 07, 2016	MedGen:C3280309,OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	germline	14	75097231	TTTTTGCCTGGGGCAATGGTGGTAATGGCCGCCTGGCAATGACCCCCACAGAGAGACCACA
1057520815	372536	NM_000785.3(CYP27B1):c.305G>A (p.Gly102Glu)	CYP27B1	Jan 26, 2017	MedGen:CN517202	not provided	germline	12	57766088	CACTCGTCGAGGAGCTGCTGCGACAGGAGGGACCCCGGCCCGAGCGCTGCAGCTTCTCGCC
1021330566	445541	NM_001083614.1(EARS2):c.320G>A (p.Arg107His)	EARS2	Dec 09, 2017	MedGen:C3554079,OMIM:614924,Orphanet:ORPHA314051;MedGen:CN517202	Combined oxidative phosphorylation deficiency 12;not provided	germline	16	23544679	TTCCAGGCATCCCGCCTGATGAGAGCCCCCGCCGGGGCGGTCCTGCTGGGCCCTACCAGCA
587784049	168323	NM_133433.3(NIPBL):c.772-1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36971944	TCAAAAGATAAATTGTATACTCTATTTTTAGGATGGAGATTCTTCAACAATGAGGAATGCT
-1	438514	NM_006014.4(LAGE3):c.188+1G>A	LAGE3	Oct 25, 2017	MedGen:CN570502,OMIM:301006	GALLOWAY-MOWAT SYNDROME 2, X-LINKED	germline	X	154478727	CAGGGGGTCACGAATGCGGCCGCACATATTGTATCCTTTCCGAGCTGGGGGCTGCTTGCGG
886039567	259986	NM_207122.1(EXT2):c.743+1G>A	EXT2	Mar 09, 2016	MedGen:CN517202	not provided	germline	11	44114302	TGAGGTGGATCTTCCAGAGAAAGGACCAGGGTAAGGTACATTCATCCCAGCCAGGTGTGCC
121918210	16103	NM_018122.4(DARS2):c.536G>A (p.Arg179His)	DARS2	Apr 01, 2007	MedGen:C1970180,OMIM:611105,Orphanet:ORPHA137898	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	germline	1	173833419	TTCGGTTGCAGTATCGCTACTTAGACTTGCGTAGTTTCCAAATGCAGTATAACCTGCGACT
863225318	214692	NM_000038.5(APC):c.1658G>A (p.Trp553Ter)	APC	Oct 18, 2016	MedGen:C2713442,OMIM:175100;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112828887	TTATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTT
193922236	44783	NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter)	FBN1	Nov 27, 2012	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48420700	CCCCCAGGGCTACCTCCAGCACTACCAGTGGAACCAGTGTGTTGGCAAGTAACTTTTCCTC
587777142	106542	NM_024790.6(CSPP1):c.2953+1G>A	CSPP1	Feb 23, 2015	MedGen:C3810212,OMIM:615636	Joubert syndrome 21	germline;unknown	8	67172556	TTCATGATTTTAATGAGCTGAAAGATAGAGGTGAGTAGATTGCTGCTCTTTTAAAGATGTA
587784202	168276	NM_022455.4(NSD1):c.6476G>A (p.Cys2159Tyr)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177293844	TTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAA
376230356	76774	NM_000784.3(CYP27A1):c.380G>A (p.Arg127Gln)	CYP27A1	Aug 01, 2013	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000	Cholestanol storage disease	not provided	2	218809701	TGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCG
587784290	169378	NM_000430.3(PAFAH1B1):c.900+1G>A	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2674289	TCCTCCATCTCTGAAGCAACAGGATCTGAGGTACTGTATATACAAATGTCTTCATGGTTTT
-1	444148	NM_000535.6(PMS2):c.3G>A (p.Met1Ile)	PMS2	Jul 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	germline	7	6009017	TCCCCGAGGCGGATCGGGTGTTGCATCCATGGAGCGAGCTGAGAGCTCGAGGTGAGCGGGG
1064792876	224787	NM_001953.4(TYMP):c.928+1G>A	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526575	CAGACTTAAGGGACCTGGTCACCACGCTCGGTGAGGGGGACGGGGTGTAGGGGAGCGGAGG
864622501	221768	NM_018972.2(GDAP1):c.579+1G>A	GDAP1	Sep 26, 2015	MedGen:C1859198,OMIM:214400,Orphanet:ORPHA99948	Charcot-Marie-Tooth disease, type 4A	germline	8	74361979	GCATACATTGCAAAACAGAAACGACTTAAAGTAAGCCAATCAGCTGTCCTCAGTTGACATA
180177162	200431	NM_000030.2(AGXT):c.107G>A (p.Arg36His)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240868972	TGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGAT
1057519349	362105	NM_182476.2(COQ6):c.564G>A (p.Trp188Ter)	COQ6	Jun 07, 2016	MedGen:C3553349,OMIM:614650,Orphanet:ORPHA280406	Coenzyme Q10 deficiency, primary, 6	germline	14	73958229	TCCATTTCCTATGGCCGACTCCAGCCCTTGGGTTCATATTACCCTAGGTGATGGCAGCACC
760235677	236233	NM_058216.2(RAD51C):c.837+1G>A	RAD51C	Mar 03, 2015	MedGen:C3150659,OMIM:613399;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 3;Hereditary cancer-predisposing syndrome	germline	17	58709991	ATCAGCCTTGCAAATAATCACAGATTAGCTGTAAGTATTAACTAGTGAAGAGAGTTTTATA
727503809	177363	NM_000046.3(ARSB):c.944G>A (p.Arg315Gln)	ARSB	Feb 14, 2014	MedGen:CN517202	not provided	germline	5	78885782	CTTTGGCAGGGGGTAATAACTGGCCCCTTCGAGGAAGAAAATGGAGCCTGTGGGAAGGAGG
1085307556	415619	NM_001128849.1(SMARCA4):c.3556G>A (p.Ala1186Thr)	SMARCA4	Apr 20, 2017	MedGen:CN517202	not provided	germline	19	11033299	GACTGGCACCTCTTCCCCCAGGACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGC
-1	447730	NM_006147.3(IRF6):c.749G>A (p.Arg250Gln)	IRF6	Mar 16, 2017	MedGen:C0175697,OMIM:119300,SNOMED CT:79261008	Van der Woude syndrome	germline	1	209790806	CCATGACCGTGAGCAACCCTCAGGGCTGCCGACTCTTCTATGGGGACCTGGGTCCCATGCC
869312826	226495	NM_002074.4(GNB1):c.976G>A (p.Ala326Thr)	GNB1	Feb 10, 2016	Human Phenotype Ontology:HP:0002069,MedGen:C0494475;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001249,MedGen:C1843367;Human Phenotype Ontology:HP:0001252,MedGen:C0026827;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Generalized tonic-clonic seizures;Global developmental delay;Intellectual disability;Muscular hypotonia;Seizures	de novo	1	1787378	AGCTGCCTGGGCGTGACTGACGATGGCATGGCTGTGGCGACAGGGTCCTGGGATAGCTTCC
587783757	170028	NM_000252.2(MTM1):c.1137G>A (p.Trp379Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150657904	TTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCC
28935195	25766	NM_000169.2(GLA):c.466G>A (p.Ala156Thr)	GLA	Oct 17, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101401713	CCTGGGAGTTTTGGATACTACGACATTGATGCCCAGACCTTTGCTGACTGGGGAGTAGATC
587776405	153708	NM_024675.3(PALB2):c.48G>A (p.Lys16=)	PALB2	Sep 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	16	23641110	GAAGCCCCTCAGCTGTGAGGAGAAGGAAAAGGTGCCGGGGGTGCGGGAAGGGCGGACGCAG
587779625	107095	NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg)	COL3A1	Aug 26, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188990114	TTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGAC
121917900	16739	NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter)	ERCC6	Jan 01, 1998	MedGen:C0751038,OMIM:133540,Orphanet:ORPHA90322	Cockayne syndrome B	germline	10	49500673	GTCATAGGTACCAGCAGACAGGTGTTAGGTGGCTGTGGGAATTGCACTGCCAGCAGGCAGG
397514375	36363	NM_000060.4(BTD):c.595G>A (p.Val199Met)	BTD	Sep 16, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	unknown	3	15644451	GATGGGAGATACCAGTTCAACACAAATGTCGTGTTCAGCAATAATGGAACCCTTGTTGACC
201752283	106628	NM_000211.4(ITGB2):c.897+1G>A	ITGB2	-	MedGen:C0398738,OMIM:116920,Orphanet:ORPHA99842	Leukocyte adhesion deficiency type 1	inherited	21	44900319	GACAACTTGTACAAGAGGAGCAACGAATTCGTAAGTCCCCACCCCAGGCACCCAGGCACCG
1085307271	414212	NM_001204.6(BMPR2):c.893G>A (p.W298*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202520127	GCAAGTATTTAAGTCTCCACACAAGTGACTGGGTAAGCTCTTGCCGTCTTGCTCATTCTGT
-1	430082	NM_173630.3(RTTN):c.5185+1G>A	RTTN	May 17, 2016	na	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	germline	18	70054130	TTCTCACCATATGTACCAAAGATGTATTAGGTAAGCTTAATTGTTTTAGTTTAGAATGTAA
267606907	29186	NM_002471.3(MYH6):c.2384G>A (p.Arg795Gln)	MYH6	Jan 29, 2002	MedGen:C2750467,OMIM:613251	Familial hypertrophic cardiomyopathy 14	germline	14	23396329	GCATCATCACGCGCATGCAGGCCCAAGCCCGGGGCCAGCTCATGCGCATTGAGTTCAAGAA
-1	442108	NM_000435.2(NOTCH3):c.3356G>A (p.Cys1119Tyr)	NOTCH3	Nov 25, 2014	MedGen:CN517202	not provided	germline	19	15179468	AGTGTCTTCCTGGCTACAATGGTGATAACTGTGAGGACGACGTGGACGAGTGTGCCTCCCA
61752119	28744	NM_001079867.1(PEX2):c.163G>A (p.Glu55Lys)	PEX2	Oct 01, 1999	MedGen:C3542026,OMIM:614867	Peroxisome biogenesis disorder 5B	germline	8	76984016	AAACCTGGGCTGTTAGCTCGCTTTGAGCCAGAGGTGAAAGCGTGCTTATGGGTTTTCTTGT
-1	442564	NM_144612.6(LOXHD1):c.746G>A (p.Trp249Ter)	LOXHD1	Jul 30, 2015	MedGen:C0011053	Deafness	paternal	18	46610789	GCCACAACAATAAGGGGGGCTCTGCAGGTTGGTTCCTGTCCCAGGTGAGTTCAGCTGCTTC
81002809	67078	NM_000059.3(BRCA2):c.7805+1G>A	BRCA2	Nov 01, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32357930	TGGAAAGGCTGGAAAAGAAGAATTTTATAGGTACTCTATGCAAAAAGATTGTGTGTTAACT
1057524736	370991	NM_004523.3(KIF11):c.77+1G>A	KIF11	Jan 13, 2017	MedGen:CN517202	not provided	germline	10	92593453	GAAGAACATCCAGGTGGTGGTGAGATGCAGGTAGGGAGAGGGCTGACAGGATTCCGAGCGC
727503881	177629	NM_080629.2(COL11A1):c.3745-1G>A	COL11A1	Feb 25, 2014	MedGen:CN517202	not provided	germline	1	102920365	GGATAATTACATTCCTTTTTCTACACTGCAGGGACCACAAGGACCCCCAGGGTCTGTTGGT
398123006	97553	NM_024915.3(GRHL2):c.1258-1G>A	GRHL2	Aug 01, 2013	MedGen:C1837640,OMIM:608641	Deafness, autosomal dominant 28	germline	8	101631636	GCATTTTCTGTATTTGTTTTTTTCCTATCAGGGAGCAGAAAGAAAAATCCGAGATGAAGAG
587782604	152351	NM_003000.2(SDHB):c.689G>A (p.Arg230His)	SDHB	Aug 07, 2017	MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;MedGen:CN517202	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;not provided	germline	1	17022684	TTGACTCCAGAGATGACTTCACAGAGGAGCGCCTGGCCAAGCTGCAGGACCCATTCTCTCT
387906806	39143	NM_005630.2(SLCO2A1):c.764G>A (p.Gly255Glu)	SLCO2A1	Jan 13, 2012	MedGen:C3280800,OMIM:614441	Primary hypertrophic osteoarthropathy, autosomal recessive 2	germline	3	133951305	ACTTGGTCCCGGGTGACCCCCGATGGATTGGAGCCTGGTGGCTAGGCCTGCTCATTTCTTC
886041412	263955	NM_004431.4(EPHA2):c.2826-9G>A	EPHA2	Jul 18, 2016	MedGen:CN517202	not provided	germline	1	16125329	CCAGCCCCTAACTCTCCCTCTCTCCCTCCCGGCCCACAGCGACATCAAGAGGATTGGGGTG
886039359	259944	NM_000043.5(FAS):c.443+1G>A	FAS	Oct 28, 2016	MedGen:CN517202	not provided	germline	10	89008998	TGTATGTGAACACTGTGACCCTTGCACCAAGTAAGTTTTAGTCTTTCTCTGATTAAAACAC
112563513	136921	NM_000540.2(RYR1):c.7007G>A (p.Arg2336His)	RYR1	Oct 21, 2016	MedGen:CN239331;MedGen:CN517202	RYR1-Related Disorders;not provided	germline;unknown	19	38499223	GTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTCGTCAACGGTGAGGAGGG
587776962	59490	NM_001042498.2(SLC35A2):c.3G>A (p.Met1Ile)	SLC35A2	Nov 14, 2013	MedGen:C3806688,OMIM:300896,Orphanet:ORPHA356961	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	de novo;germline	X	48911634	CGAGGGGACGGGCCGGGCAGATGCCAACATGGCAGCGGTTGGGGCTGGTGGTTCCACCGCG
143816093	15271	NM_182758.3(WDR72):c.2934G>A (p.Trp978Ter)	WDR72	Dec 15, 2016	MedGen:C2750771,OMIM:613211;MedGen:CN517202	Amelogenesis imperfecta, hypomaturation type, IIA3;not provided	germline	15	53609531	CCTTTCACTTTTGAAGCTAATTTCCTGTTGGAGAGACCAGTCTGTGCAGGTATGATATAAT
144172724	171199	NM_000527.4(LDLR):c.301G>A (p.Glu101Lys)	LDLR	Sep 07, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:C0020443;MedGen:CN517202	Familial hypercholesterolemia;Hypercholesterolaemia;not provided	germline;not applicable	19	11102774	GGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCT
113994203	34027	NM_000430.3(PAFAH1B1):c.1002+1G>A	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2676607	GTCAGTACTGGCATGTGCCTTATGACCCTCGTAAGTTTGCATAATCTTACCATTTCTTTTG
1057517822	359361	NM_006516.2(SLC2A1):c.418G>A (p.Val140Met)	SLC2A1	Mar 11, 2015	MedGen:CN517202	not provided	germline	1	42930724	GGTGTGTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCA
104894677	31755	NM_001985.2(ETFB):c.491G>A (p.Arg164Gln)	ETFB	Mar 01, 1994	MedGen:C3278155	Glutaric acidemia IIB	germline	19	51347006	CGCTGGAGGGGGACAAGTTGAAAGTGGAGCGGGAGATCGATGGGGGCCTGGAGACCCTGCG
587779494	106935	NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003412	CTTACATAATTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGA
587783595	169461	NM_001005360.2(DNM2):c.1565G>A (p.Arg522His)	DNM2	Jun 29, 2017	MedGen:C1847902,OMIM:606482;MedGen:CN221282;MedGen:CN517202	DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Myopathy, centronuclear;not provided	germline	19	10812271	CTAAGCTGCGCGCTTTCCCCCAGGTGATCCGCAGGGGCTGGCTGACCATCAACAACATCAG
794728598	481568	NM_170707.3(LMNA):c.3G>A (p.Met1Ile)	LMNA	Oct 24, 2017	MedGen:CN517202	not provided	germline	1	156114921	CGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGC
121434370	17125	NM_000159.3(GCDH):c.1093G>A (p.Glu365Lys)	GCDH	Jul 07, 2014	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric aciduria, type 1;not provided	germline	19	12897713	CCCTCATGTGCCACTCCCAGGGCTGCCCCCGAGATGGTTTCTCTGCTGAAGAGGAATAACT
886043669	271844	NM_016363.5(GP6):c.479G>A (p.Trp160Ter)	GP6	May 02, 2016	MedGen:C3280120,OMIM:614201,Orphanet:ORPHA98885	Platelet-type bleeding disorder 11	germline	19	55027709	ACCCTGCGCCCTACAAGAATCCCGAGAGATGGTACAGGGCTAGTTTTCCCATCATCACGGT
104893965	32030	NM_000165.4(GJA1):c.1127G>A (p.Arg376Gln)	GJA1	Aug 08, 2001	MedGen:C0344783,OMIM:600309,SNOMED CT:253414002;MedGen:CN031062,OMIM:241550	Atrioventricular septal defect and common atrioventricular junction;Hypoplastic left heart syndrome 1	germline	6	121447974	GAGCCAGCAGTCGTGCCAGCAGCAGACCTCGGCCTGATGACCTGGAGATCTAGATACAGGC
-1	434438	NM_172250.2(MMAA):c.820-1G>A	MMAA	-	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145653993	GGTTGTCATTAAATGTTTCTGATCTCTTTAGGGTATCAAAAGGGGTATAATCGAGATGGCA
397514456	38702	NM_001077488.3(GNAS):c.1177G>A (p.Glu393Lys)	GNAS	Mar 10, 2015	Human Phenotype Ontology:HP:0000852,MedGen:C0033806,OMIM:103580,Orphanet:ORPHA97593;MedGen:C2675910,OMIM:612462;MedGen:C0033835,OMIM:612463,Orphanet:ORPHA79445,SNOMED CT:237659007	Pseudohypoparathyroidism type 1A;Pseudohypoparathyroidism type 1C;Pseudopseudohypoparathyroidism	germline	20	58910818	ATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTT
267607634	77669	NM_170707.3(LMNA):c.1081G>A (p.Glu361Lys)	LMNA	Feb 08, 2013	MeSH:D009136,MedGen:C0026850,Orphanet:ORPHA98473;MedGen:CN517202	Muscular dystrophy;not provided	germline	1	156136045	AGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACA
58933950	25556	NM_000273.2(GPR143):c.455G>A (p.Ser152Asn)	GPR143	Apr 01, 1998	MedGen:C0342684,OMIM:300500,Orphanet:ORPHA54,SNOMED CT:78642008;MedGen:CN517202	Ocular albinism, type I;not provided	germline	X	9759332	ATCTGGTGATCCGGAGATCGGCAGGACTGAGGTATTCACCGAGGAAATGGGATTTCTGCCC
61751262	105081	NM_000350.2(ABCA4):c.3050+5G>A	ABCA4	Jul 25, 2017	MedGen:CN517202	not provided	germline	1	94044608	CCACAGCACAACATCCTGTTCCACCAGTAAGCGACACAGGAACTGAGACCGCCCCATCCCC
879255709	247726	NM_014191.3(SCN8A):c.4948G>A (p.Ala1650Thr)	SCN8A	Nov 16, 2016	MedGen:C3281191,OMIM:614558;Human Phenotype Ontology:HP:0200134,MedGen:C0543888;MedGen:CN517202	Early infantile epileptic encephalopathy 13;Epileptic encephalopathy;not provided	de novo;germline	12	51806434	CTGCTCTTTGCCTTAATGATGTCCTTGCCTGCCCTGTTCAACATCGGCCTTCTGCTCTTCC
121917957	79394	NM_006920.4(SCN1A):c.1130G>A (p.Arg377Gln)	SCN1A	Jan 16, 2017	MedGen:C1858672,OMIM:604233;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 1;Severe myoclonic epilepsy in infancy;not provided	germline;inherited;unknown	2	166047667	CCTTCAGTTGGGCTTTTTTGTCCTTGTTTCGACTAATGACTCAGGACTTCTGGGAAAATCT
879255212	246622	NM_000527.4(LDLR):c.2438G>A (p.Trp813Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11129561	GCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTT
1057519305	361823	NM_001128608.1(MAPKBP1):c.1631G>A (p.Arg544Gln)	MAPKBP1	May 22, 2017	MedGen:CN781300,OMIM:617271	Nephronophthisis 20	germline	15	41816937	CAGGTCTGAAACTGCTAGCATCGGCGAGCCGGGACCGGCTGATCCATGTGCTGGATGCCGG
1057519699	362779	NM_006218.3(PIK3CA):c.1645G>A (p.Asp549Asn)	PIK3CA	Oct 02, 2014	MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005	Colorectal Neoplasms;Neoplasm of the breast	somatic	3	179218315	CCTCTCTCTGAAATCACTGAGCAGGAGAAAGATTTTCTATGGAGTCACAGGTAAGTGCTAA
72664281	427068	NM_001171.5(ABCC6):c.549G>A (p.Leu183=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16214375	CCTGTCTCTGGTGGTGGCACAGTTTGTGCTGTCCTGCCTGGCGGATCAACCCCCCTTCTTC
777061964	481361	NM_017613.3(DONSON):c.683G>A (p.Trp228Ter)	DONSON	Nov 16, 2017	MedGen:CN373593,OMIM:617604	MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES	maternal	21	33584692	TTATCTATTGGCTCCACCCTGCTTTGTCTTGGCTACCACTGTTCCCTCGTATTGGAGCTGA
80358231	16880	NM_206898.1(MRAP):c.3G>A (p.Met1Ile)	MRAP	Sep 30, 2017	MedGen:C4049650,OMIM:202200;Gene:282631,MedGen:C4049714,OMIM:607398	ACTH resistance;Glucocorticoid deficiency 2	germline	21	32298974	CGGACGCTGACTGCCCAGTGCCACAGACATGGCCAACGGGACCAACGCCTCTGCCCCATAC
756614404	214533	NM_001039550.1(DNAJB2):c.352+1G>A	DNAJB2	Aug 08, 2014	MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485	Spinal muscular atrophy, distal, autosomal recessive, 5	germline	2	219282062	GGAGTGGAGACCCTTTTGCAGAGCTCTTTGGTGAGTGGACTCTGGAAGCCTCTGAATGGCT
121913645	29151	NM_000257.3(MYH7):c.667G>A (p.Ala223Thr)	MYH7	Oct 18, 2002	MedGen:C1834481,OMIM:613426	Dilated cardiomyopathy 1S	germline	14	23431650	CAGGGCACCCTGGAGGACCAGATCATCCAGGCCAACCCTGCTCTGGAGGCCTTTGGCAATG
797044598	188227	NM_000257.3(MYH7):c.5566G>A (p.Glu1856Lys)	MYH7	Mar 12, 2015	MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135	Myopathy, distal, 1	germline	14	23414096	CCCTGCCTACCCTCTGGCCCCCAGACGGAGGAGGACAGGAAAAACCTGCTGCGGCTGCAGG
2856597	427079	NM_001171.5(ABCC6):c.232G>A (p.Ala78Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16219935	CTAAGCCTGTATCCTCAGGTGCTTGGATTCGCCCTCATAGTCCTGTGTACCTCCAGCGTGG
869312146	214038	NM_000169.2(GLA):c.561G>A (p.Met187Ile)	GLA	Jan 01, 2014	MedGen:CN233149;Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Deoxygalactonojirimycin response;Fabry disease	inherited	X	101400744	ATTGTTTTCTCATACAGGTTATAAGCACATGTCCTTGGCCCTGAATAGGACTGGCAGAAGC
104894832	25761	NM_000169.2(GLA):c.982G>A (p.Gly328Arg)	GLA	Apr 01, 1992	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398387	GCCATCAATCAGGACCCCTTGGGCAAGCAAGGGTACCAGCTTAGACAGGTAAATAAGAGTA
72656390	458058	NM_000089.3(COL1A2):c.920G>A (p.Gly307Asp)	COL1A2	Oct 11, 2016	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94409592	AGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGC
764497513	274181	NM_020549.4(CHAT):c.620G>A (p.Arg207His)	CHAT	Aug 16, 2016	MedGen:C0393929,OMIM:254210,SNOMED CT:230670003	Familial infantile myasthenia	germline	10	49620535	ACTGGCTGAATGACATGTATCTCAACAACCGCCTGGCCCTGCCTGTCAACTCCAGCCCTGC
763486732	214189	NM_001080522.2(CC2D2A):c.3989G>A (p.Arg1330Gln)	CC2D2A	Feb 23, 2015	MedGen:C2676788,OMIM:612285	Joubert syndrome 9	unknown	4	15586170	TCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTGA
61754457	153266	NM_004992.3(MECP2):c.317G>A (p.Arg106Gln)	MECP2	Nov 01, 2011	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	de novo;germline;unknown	X	154032267	ATGACCCCACCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAATCTGGCCGCTC
267606827	28910	NM_005249.4(FOXG1):c.924G>A (p.Trp308Ter)	FOXG1	Jul 13, 2010	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	de novo;germline	14	28768203	CTTCATGGACCGCGCCGGCTCCCTCTACTGGCCCATGTCGCCCTTCCTGTCCCTGCACCAC
121909025	22218	NM_000492.3(CFTR):c.171G>A (p.Trp57Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117509040	GTCCCACTTTTTATTCTTTTGCAGAGAATGGGATAGAGAGCTGGCTTCAAAGAAAAATCCT
121434250	18384	NM_000348.3(SRD5A2):c.586G>A (p.Gly196Ser)	SRD5A2	Mar 13, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31529419	TTTACGTATGTTTCTGGAGCCAATTTCCTCGGTGAGATCATTGAATGGATCGGCTATGCCC
63750331	31048	NM_002087.3(GRN):c.3G>A (p.Met1Ile)	GRN	Aug 24, 2006	MedGen:C1843792,OMIM:607485;MedGen:CN517202	Frontotemporal dementia, ubiquitin-positive;not provided	germline	17	44349167	ACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACA
796052953	201632	NM_001165963.1(SCN1A):c.265-1G>A	SCN1A	Dec 16, 2013	MedGen:CN517202	not provided	germline	2	166058689	CATACTTCTATGTTGTGTTCCTGTCTTACAGACTTTTATAGTATTGAATAAAGGGAAGGCC
61751402	105177	NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4	Mar 31, 2016	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Retinal dystrophy;Stargardt disease 1;not provided	germline;unknown	1	94029515	CACAGGTCAACCCTTCACCATCCTGCAGGTGCAGCACCAGGGAGAAGCTCACCATGCTGCC
1057521927	364478	NM_021222.2(PRUNE1):c.88G>A (p.Asp30Asn)	PRUNE1	Sep 19, 2017	Human Phenotype Ontology:HP:0012443,MedGen:C4021085;MedGen:CN243994,OMIM:617481;MedGen:CN517202	Abnormality of brain morphology;Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies;not provided	germline;inherited	1	151017860	GTTGTGCTGGGAAATGAAGCCTGTGATTTGGACTCCACAGTGTCTGCTCTTGCCCTGGCTT
886041851	264035	NM_001271208.1(NEB):c.11806-1G>A	NEB	Apr 07, 2017	MedGen:CN517202	not provided	germline	2	151610867	TCCCCATGCCCCATGCCGCCCTGCCCTGTAGCATTTATACACAGAAGCTTGGGATGCTGAC
1085307317	414265	NM_001204.6(BMPR2):c.1241G>A (p.W414*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532697	TAGACATGTATGCTCTTGGACTAATCTATTGGGAGATATTTATGAGATGTACAGACCTCTT
80358020	70329	NM_007294.3(BRCA1):c.671-1G>A	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43094861	TGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAA
118192133	76842	NM_000540.2(RYR1):c.13900G>A (p.Glu4634Lys)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38572172	GAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCC
80356988	46160	NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys)	BRCA1	May 16, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43074331	GAAACATCTTACTTGCCAAGGCAAGATCTAGGTAATATTTCATCTGCTGTATTGGAACAAA
786200877	18012	NM_000271.4(NPC1):c.3591+1G>A	NPC1	Oct 07, 2014	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline;unknown	18	23534445	GAAGAGGCACTTGCCCACATGGGCAGCTCCGTGAGTACCCTGAGCAGGGCCACGCCGGCAG
587780113	133372	NM_004360.4(CDH1):c.1565+1G>A	CDH1	Oct 04, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	germline	16	68815760	GCCAGACACATTTATGGAACAGAAAATAACGTAAGTGTGAGGATTTTTCAACTGACTTGCA
111436401	226974	NM_000540.2(RYR1):c.10347+1G>A	RYR1	Sep 08, 2017	MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Inborn genetic diseases;not provided	germline	19	38523116	GAGATCTTCATCTACTGGTCCAAGTCCCACGTGAGTGCCCACCCCAACCGCCCTCCCCACA
-1	446588	NM_003639.4(IKBKG):c.188-1G>A	IKBKG	Dec 18, 2015	MedGen:CN517202	not provided	germline	X	154556164	AGCTCCCCTCCACTGTCCCCTCTGCCACCAGATGCCATCCGGCAGAGCAACCAGATTCTGC
80338925	34541	NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys)	SH3TC2	Oct 04, 2016	MedGen:C1866636,OMIM:601596,Orphanet:ORPHA99949;MedGen:CN043578	Charcot-Marie-Tooth disease, type 4C;Charcot-Marie-Tooth disease, type IV	germline	5	149027763	GGCCGGCACGAGGAGGTCCTGCCCTTTGCCGAGCGCCTGCAGCTCCTCTCTGGACACCCTC
104894291	28185	NM_000448.2(RAG1):c.1187G>A (p.Arg396His)	RAG1	May 29, 1998	MedGen:C1801959,OMIM:603554,Orphanet:ORPHA39041,SNOMED CT:307650006	Histiocytic medullary reticulosis	germline	11	36574491	TTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGC
201108965	15237	NM_001173990.2(TMEM216):c.218G>A (p.Arg73His)	TMEM216	Jul 01, 2010	MedGen:C1842577,OMIM:608091;MedGen:C1864148,OMIM:603194	Joubert syndrome 2;Meckel syndrome type 2	germline	11	61393965	TCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAA
398123367	98844	NM_000426.3(LAMA2):c.112+1G>A	LAMA2	Nov 23, 2014	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	128883358	AGCGGCAGTCACAGGCACATCAGCAAAGAGGTACAGTCGAGGCATGGGCTTGGGTTGCATC
118203982	16396	NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)	ALDH5A1	Mar 22, 2016	MedGen:C0268631,OMIM:271980,Orphanet:ORPHA22,SNOMED CT:49748000;MedGen:CN517202	Succinate-semialdehyde dehydrogenase deficiency;not provided	germline	6	24504871	CATACTTCCTCTGCTCTTCTAACCCCAGTGGAATTTCCCCAGTGCCATGATCACCCGGAAG
267607165	22006	NM_006086.3(TUBB3):c.1228G>A (p.Glu410Lys)	TUBB3	Aug 12, 2016	MedGen:C3279670,OMIM:614039;MedGen:C2748801,OMIM:600638	Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	de novo;germline	16	89935679	GGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGT
1057516099	354006	NM_172107.3(KCNQ2):c.901G>A (p.Gly301Ser)	KCNQ2	Nov 16, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218;Human Phenotype Ontology:HP:0200134,MedGen:C0543888	Early infantile epileptic encephalopathy 7;Epileptic encephalopathy	de novo;germline	20	63439624	AGGCTCCTTGCGGCAACCTTCACCCTCATCGGTGTCTCCTTCTTCGCGCTGCCTGCAGTAA
886041402	264710	NM_024110.4(CARD14):c.349+1G>A	CARD14	Mar 03, 2016	MedGen:CN517202	not provided	germline	17	80182791	AGCCTGATGTTGACTTCAGTAACTTTAGCGGTGAGAGCTCCGACTTTGACGGTTTGGCAGG
121909274	23337	NM_139343.2(BIN1):c.451G>A (p.Asp151Asn)	BIN1	Sep 01, 2007	MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:240081004	Autosomal recessive centronuclear myopathy	germline	2	127068992	GCCAAGCGGGGGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTACGAGTCCCTTC
74315316	21522	NM_024009.2(GJB3):c.35G>A (p.Gly12Asp)	GJB3	Dec 01, 1998	MedGen:C0265961,OMIM:133200,Orphanet:ORPHA317,SNOMED CT:70041004	Erythrokeratodermia variabilis	germline	1	34784797	ACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCG
-1	431529	NM_022124.5(CDH23):c.6344G>A (p.Arg2115His)	CDH23	Sep 26, 2017	MedGen:CN432550,OMIM:617540	PITUITARY ADENOMA 5, MULTIPLE TYPES	germline	10	71793272	TCTACCGAATAGAAGCTGGGGCTCAGGACCGCTTCCTCATTCATCTGGTCACCGGGGTCAT
318240760	45884	NM_018117.11(WDR11):c.1303G>A (p.Ala435Thr)	WDR11	Oct 08, 2010	MedGen:C3540450,OMIM:614858;MedGen:CN517202	Hypogonadotropic hypogonadism 14 with or without anosmia;not provided	germline	10	120871178	TGTTATTTTTATTACAAATCAGGGCAAAGTGCAATTGCTGGGGAAGAACATCCCAGAGGTT
1131691217	421129	NM_177438.2(DICER1):c.1907+1G>A	DICER1	Nov 02, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	14	95115666	AATCAACACGGCCATTGGACACATCAATAGGTATGGCATCATATCATTTGTGTGGAAAACC
104886139	35781	NM_000495.4(COL4A5):c.1735G>A (p.Gly579Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597524	CCAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGCTTCCTGGCC
118192168	28023	NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile)	RYR1	Mar 06, 2017	MedGen:C4016368;Human Phenotype Ontology:HP:0003789,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905;MedGen:CN517202	Central core disease, autosomal recessive;Minicore myopathy;not provided	germline;unknown	19	38580403	GTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACT
1131691130	420776	NM_000267.3(NF1):c.1796G>A (p.Trp599Ter)	NF1	Nov 23, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31223518	AAATGCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGATCTGCAGGAATAA
72651651	32328	NM_000088.3(COL1A1):c.2210G>A (p.Gly737Asp)	COL1A1	Oct 03, 1997	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50191408	AGGGAATGCCTGGTGAACGTGGTGCAGCTGGTCTTCCAGGGCCTAAGGGTGACAGAGTAAG
886039249	259336	NM_001242896.1(DEPDC5):c.484-1G>A	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31783906	GCTTTTTAATACAATTGTGTTTTTATTTCAGGTGGTGTTTCGTTCTACGTCGGCTATGGTT
57358989	29659	NM_000526.4(KRT14):c.357G>A (p.Met119Ile)	KRT14	Sep 01, 1997	MedGen:C0080333,OMIM:131800,Orphanet:ORPHA79400;MedGen:C1832926,OMIM:601001;MedGen:CN517202	Epidermolysis bullosa simplex, Cockayne-Touraine type;Epidermolysis bullosa simplex, autosomal recessive;not provided	germline	17	41586478	GCTTCTGGTGGGCAGTGAGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTAC
587777264	131953	NM_020822.2(KCNT1):c.862G>A (p.Gly288Ser)	KCNT1	Sep 26, 2017	MedGen:C3554195,OMIM:614959;MedGen:CN517202	Early infantile epileptic encephalopathy 14;not provided	germline	9	135759686	CCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGA
768720209	211503	NM_017547.3(FOXRED1):c.86-1G>A	FOXRED1	Apr 14, 2014	MedGen:CN517202	not provided	germline	11	126271436	TTGGCCCTCTGACCCTAACTACATCCCACAGACTGGGATGGAAAGGTGTCTGAGATTAAGA
786203385	184108	NM_002382.4(MAX):c.295+1G>A	MAX	Jan 25, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	14	65077912	AGCGGCAGAATGCTCTTCTGGAGCAGCAAGGTGAGCACCCGAGCTCGTGGGGCAGCTGGCC
72653178	32369	NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser)	COL1A1	Nov 01, 2012	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009;MedGen:CN517202	Osteogenesis imperfecta type III;not provided	germline;unknown	17	50188619	TCTCCCCGCCAGGGTGACCGTGGTGAGACCGGCCCCGCTGGACCCCCTGGTGCTCCTGGTG
886040936	262828	NM_000059.3(BRCA2):c.6938-1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32346826	TAATATGTAATATAAAATAATTGTTTCCTAGGCACAATAAAAGATCGAAGATTGTTTATGC
587784174	168247	NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln)	NSD1	Apr 06, 2017	MedGen:CN035106,OMIM:117550;MedGen:CN517202	Sotos syndrome 1;not provided	germline	5	177283791	ATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTA
118192135	76849	NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38572185	TGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGAG
782440692	209381	NM_002230.2(JUP):c.794G>A (p.Arg265His)	JUP	Oct 01, 2011	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217	Naxos disease	germline	17	41767494	TGTACCAGGAGGGCGCCAAGATGGCCGTGCGCCTGGCCGACGGGCTGCAAAAGATGGTGCC
587777238	125816	NM_198947.3(FAM111B):c.1883G>A (p.Ser628Asn)	FAM111B	May 05, 2016	MedGen:C3810325,OMIM:615704,Orphanet:ORPHA221043	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	germline	11	59125980	GTAATGTATACTGTATGTTTACCCAAAGAAGTTTCCTATCAGAGGTTTGGAACACACACAC
-1	457571	NM_194456.1(KRIT1):c.990G>A (p.Trp330Ter)	KRIT1	Mar 09, 2017	MedGen:C1861784,OMIM:116860	Cerebral cavernous malformation	germline	7	92226682	TGTTTTTTGTTTGTTTGTTTTTTTATACAGGTATGGAAAAGTTGAGGCCACTCGCATATTG
104886250	36012	NM_000495.4(COL4A5):c.3694G>A (p.Gly1232Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668408	AAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTT
267606760	16791	NM_000787.3(DBH):c.301G>A (p.Val101Met)	DBH	Oct 29, 2015	MedGen:C0342687,OMIM:223360,Orphanet:ORPHA230;MedGen:C0342687,OMIM:223360,Orphanet:ORPHA230	Dopamine beta hydroxylase deficiency;Dopamine beta hydroxylase deficiency	germline	9	133636672	GACCGTGGCGAGCTTGAGAACGCAGATCTCGTGGTGCTCTGGACCGATGGGGACACTGCCT
797045393	209296	NM_000052.6(ATP7A):c.4123+1G>A	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78043435	ATAATCTGGTTGGAATTCCCATAGCTGCTGGTATGTGACTCTTAACTAGTACTGCTTTTTC
587779567	107024	NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004266	AGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAG
121908117	19224	NM_033629.4(TREX1):c.52G>A (p.Asp18Asn)	TREX1	Apr 28, 2017	MedGen:C0796126,OMIM:225750;MedGen:C3150315;MedGen:C3277619,OMIM:610448,SNOMED CT:72470008;MedGen:CN517202	Aicardi Goutieres syndrome 1;Aicardi Goutieres syndrome 1, autosomal dominant;Chilblain lupus 1;not provided	germline	3	48466707	CCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCCTTCTCCC
200639270	377186	NM_000159.3(GCDH):c.395G>A (p.Arg132Gln)	GCDH	Jan 11, 2017	MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,SNOMED CT:360416003,SNOMED CT:76175005;MedGen:CN517202	Glutaric aciduria, type 1;not provided	germline	19	12893543	CCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGATGAG
587781506	150832	NM_000059.3(BRCA2):c.7877G>A (p.Trp2626Ter)	BRCA2	Dec 30, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32362594	CTAGAATTTGGGTTTATAATCACTATAGATGGATCATATGGAAACTGGCAGCTATGGAATG
587777616	153655	NM_006831.2(CLP1):c.419G>A (p.Arg140His)	CLP1	Apr 27, 2014	MedGen:C4014347,OMIM:615803,Orphanet:ORPHA411493	Pontocerebellar hypoplasia, type 10	germline;inherited	11	57659895	TGTGTCGCCTTCTGCTCAACTACGCAGTGCGTTTGGGCCGCCGTCCCACTTATGTGGAGCT
137853905	105638	NM_004183.3(BEST1):c.727G>A (p.Ala243Thr)	BEST1	Sep 01, 2017	MedGen:CN517202	not provided	germline	11	61958158	TCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAG
199476107	24731	m.14453G>A	MT-ND6	Oct 01, 2001	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	germline	MT	14453	GACCCCCATGCCTCAGGATACTCCTCAATAGCCATCGCTGTAGTATATCCAAAGACAACCA
121912453	29815	NM_000454.4(SOD1):c.49G>A (p.Gly17Ser)	SOD1	Jan 01, 1997	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31659818	TGCGTGCTGAAGGGCGACGGCCCAGTGCAGGGCATCATCAATTTCGAGCAGAAGGCAAGGG
587783459	168638	NM_017780.3(CHD7):c.8055G>A (p.Trp2685Ter)	CHD7	Feb 08, 2013	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60862631	AAATCCTGAATTTGCAGTTGCTCCAGACTGGACTGATATAGTTAAGCAGTCTGTAAGTACA
387906931	39516	NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser)	WFS1	Jun 01, 2011	MedGen:C1857286,OMIM:614296,Orphanet:ORPHA411590	Wolfram-like syndrome, autosomal dominant	germline	4	6302133	TTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCT
387906937	39530	NM_012200.3(B3GAT3):c.830G>A (p.Arg277Gln)	B3GAT3	Jun 04, 2015	na;MedGen:C1855536,OMIM:245600	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS;Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	germline	11	62616585	CCAATGCCCAATTTGATTCCACCGCTCCCCGGGGCCACCTGGAGAGCAGTCTTCTGAGCCA
63750561	95539	NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter)	MLH1	Dec 15, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline;unknown	3	37050517	GTGAAGTGCCTGGCTCCATTCCAAACTCCTGGAAGTGGACTGTGGAACACATTGTCTATAA
527236113	152862	NM_014014.4(SNRNP200):c.2042G>A (p.Arg681His)	SNRNP200	-	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009	Retinitis pigmentosa	not provided	2	96293090	ATTTGTCTAACTGTTGAACTTCTAGCTTCCGTCCAGTGCCTCTGGAACAGACATATGTGGG
121909198	22976	NM_000503.5(EYA1):c.1087G>A (p.Glu363Lys)	EYA1	Feb 12, 2000	MedGen:C3152182	Anterior segment anomalies	germline	8	71244656	CCCACTTCAGTTTCCCTTGGACTGCGAATGGAAGAAATGATTTTCAACTTGGCAGACACAC
1057519336	362066	NM_003995.3(NPR2):c.2944G>A (p.Asp982Asn)	NPR2	Sep 16, 2016	MedGen:C1864356,OMIM:602875,Orphanet:ORPHA40	Acromesomelic dysplasia Maroteaux type	inherited	9	35808811	CTGAAGATGCCCCGTTATTGTCTTTTTGGAGACACAGTGAACACTGCTTCTCGAATGGAGT
121909303	23207	NM_000436.3(OXCT1):c.661G>A (p.Val221Met)	OXCT1	Sep 01, 2000	MedGen:C0342792,OMIM:245050,Orphanet:ORPHA832,SNOMED CT:238004006	Succinyl-CoA acetoacetate transferase deficiency	germline	5	41842685	AAAGCCTGGAAGGCGGACCGAGCAGGAAACGTGATTTTCAGGTATTGTGATAGTTTTAAAA
121908047	18721	NM_000403.3(GALE):c.280G>A (p.Val94Met)	GALE	Jun 17, 2016	MedGen:C4017048;MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004	Galactose epimerase deficiency, severe;UDPglucose-4-epimerase deficiency	germline;unknown	1	23798188	GCGGTCATCCACTTTGCGGGGCTCAAGGCCGTGGGCGAGTCGGTGCAGAAGCCTCTGGATT
1057520630	376667	NM_007254.3(PNKP):c.1386+1G>A	PNKP	Apr 16, 2015	MedGen:CN517202	not provided	germline	19	49861607	ACTCTGGAGCAGGCGCGCCACAACAACCGGGTGAGCCCGCTCAGCCCGGACACCCCCCGGG
74315340	22998	NM_000261.1(MYOC):c.734G>A (p.Cys245Tyr)	MYOC	Jan 01, 2006	MedGen:C1842028,OMIM:137750	Primary open angle glaucoma juvenile onset 1	germline	1	171636706	CTTCGTTTTCTTTTCTGAATTTACCAGGATGTGGAGAACTAGTTTGGGTAGGAGAGCCTCT
199422249	47536	NM_001363.4(DKC1):c.1075G>A (p.Asp359Asn)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	not provided	X	154773169	TTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAGAGAG
138138689	357961	NM_153676.3(USH1C):c.496+1G>A	USH1C	Nov 02, 2016	MedGen:C1865870,OMIM:602092;MedGen:C1848604,OMIM:276904	Deafness, autosomal recessive 18;Usher syndrome, type 1C	unknown	11	17527222	CCAAGAAAACTGTGTCCATCAAAGTGAGACGTGAGTGAGGCCAGAGCAGGGCAGTACTCCA
387907249	45606	NM_198253.2(TERT):c.2146G>A (p.Ala716Thr)	TERT	Nov 19, 2015	MedGen:C3553617,OMIM:614742	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	germline	5	1278781	CCTCCACTCACACAGGTGGATGTGACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCA
690016543	171812	NM_002972.3(SBF1):c.1327G>A (p.Asp443Asn)	SBF1	Dec 22, 2014	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C3695063,OMIM:615284,Orphanet:ORPHA363981	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, type 4B3	germline	22	50465006	GGGGTCCCATACCGCCCTACGGACCTGTTCGATGAGGTGCACCTCCACCCTGCCCTCCCAG
747768373	244490	NM_014845.5(FIG4):c.2459+1G>A	FIG4	Nov 24, 2015	MedGen:CN517202	not provided	germline	6	109792665	CTCAGAAGAAGATTTCTCCATTTATTCAAGGTGAGATACTTTCATGTAGATATTAAAGAAA
886041207	264349	NM_012330.3(KAT6B):c.3147G>A (p.Pro1049=)	KAT6B	Sep 14, 2016	MedGen:CN517202	not provided	germline	10	75022006	ACAATCGAAAAATAAATATTTGCATTCCCCGGAGAGCCGGCCAGTCACAGGGGAGCGAGGG
104894091	22009	NM_002546.3(TNFRSF11B):c.260G>A (p.Cys87Tyr)	TNFRSF11B	Dec 01, 2003	MedGen:C0268414,OMIM:239000,Orphanet:ORPHA2801,SNOMED CT:9723006	Hyperphosphatasemia with bone disease	germline	8	118933071	GTGACGAGTGTCTATACTGCAGCCCCGTGTGCAAGGAGCTGCAGTACGTCAAGCAGGAGTG
121909019	22197	NM_000492.3(CFTR):c.3197G>A (p.Arg1066His)	CFTR	Apr 14, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN169374	Cystic fibrosis;not specified	germline	7	117611638	TTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAAC
-1	440365	NM_000702.3(ATP1A2):c.2143G>A (p.Gly715Arg)	ATP1A2	Jan 21, 2015	MedGen:CN517202	not provided	germline	1	160135461	CAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGG
886041076	263769	NM_005506.3(SCARB2):c.704+1G>A	SCARB2	Mar 05, 2015	MedGen:C0751779,OMIM:254900,Orphanet:ORPHA163696	Epilepsy, progressive myoclonic 4, with or without renal failure	germline	4	76176436	TACAAAAATTGTGGAATGGAATGGGAAAACGTAAGTCAAATGATTTATCAGTGGAATTATT
-1	433052	NM_000118.3(ENG):c.1686+1G>A	ENG	Oct 12, 2016	MedGen:CN169374	not specified	germline	9	127818119	CTGCGTCCCAAGACCGGGTCTCAAGACCAGGTGAGTGGGGCCTGGGCCGGCCCCAGCTTCA
45517128	59081	NM_000548.4(TSC2):c.774+1G>A	TSC2	Jan 03, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2056770	GTCAAGGAGCTCTGCGAGCCTTGCTGGAAGGTGGGGTTTCTGAAACTGCTCTGGAAGGTTC
61751399	39174	NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys)	ABCA4	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Retinitis pigmentosa;Stargardt disease 1;not provided	germline;unknown	1	94041367	ACCATCATCATGTCCACTCACCACATGGACGAGGCCGACCTCCTTGGGGACCGCATTGCCA
-1	439901	NM_000441.1(SLC26A4):c.601-1G>A	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791	Enlarged vestibular aqueduct	germline	7	107674944	TTTAATTTTTCTTTCCTTTTCCTTATCGTAGTTGATATTTGGTGGCTTGCAGATTGGATTC
121908211	23526	NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln)	CACNA1A	Nov 01, 1996	MedGen:C1832894,OMIM:141500	Familial hemiplegic migraine type 1	germline	19	13371744	TGGCGACAGTTGGGACGGAGTTTGACCTACGGACGCTGAGGGCAGTTCGAGTGCTGCGGCC
-1	440780	NM_015560.2(OPA1):c.2355+1G>A	OPA1	Jan 12, 2017	MedGen:CN517202	not provided	germline	3	193659562	TTATACTGGAAGAATCGGACCCAAGAACAGGTAGAAATAAACAAGTCTCTAGTCTTATGAT
797044901	205280	NM_001376.4(DYNC1H1):c.4700G>A (p.Arg1567Gln)	DYNC1H1	Apr 18, 2016	MeSH:D030342,MedGen:C0950123;MedGen:CN517202	Inborn genetic diseases;not provided	germline	14	102002694	TCAAGCACCTGCTGCCAGTGGAAACCCAGCGGTTTCAGAGGTATGGCCTCCAGCCAGAGAG
80338815	18090	NM_000487.5(ARSA):c.465+1G>A	ARSA	Jul 13, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C0751279,Orphanet:ORPHA309271,SNOMED CT:24326000;MedGen:C0751276,Orphanet:ORPHA309263,SNOMED CT:44359008;MedGen:CN517202	Metachromatic leukodystrophy;Metachromatic leukodystrophy, adult type;Metachromatic leukodystrophy, juvenile type;not provided	germline;unknown	22	50627165	TTTCTAGGCATCCCGTACTCCCACGACCAGGTAGGAACCACCCGGGCCCTCAGCCACCCTC
120074164	18228	NM_017653.4(DYM):c.259G>A (p.Glu87Lys)	DYM	Feb 01, 2003	MedGen:C1846431,OMIM:607326	Smith-McCort dysplasia 1	germline	18	49379693	CTAATTAAGGTCTTCCTTTCTAGAACCAAAGAACTAAAACTTTCAGCAGAATGTCAGAAGT
28938168	22723	NM_021603.3(FXYD2):c.115G>A (p.Gly39Arg)	FXYD2	Jun 01, 2015	Human Phenotype Ontology:HP:0005567,MedGen:C1835171,OMIM:154020,Orphanet:ORPHA34528	Renal magnesium wasting	germline	11	117822424	CTGATCTTCGCTGGACTGGCCTTCATCGTGGGGCTCCTCATCCTCCTCAGTAAGTGGGGTG
786203889	185653	NM_007194.3(CHEK2):c.278G>A (p.Trp93Ter)	CHEK2	Dec 31, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	22	28734444	AAGAACCTGAGGAGCCTACCCCTGCCCCCTGGGCTCGATTATGGGCCCTTCAGGATGGATT
869025332	223760	NM_033380.2(COL4A5):c.2741G>A (p.Gly914Asp)	COL4A5	Feb 02, 2016	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	inherited	X	108621866	CAGGCCCACCAGGACCTTTGGGAATTCCTGGCAGGAGTGGTGTACCTGGTCTTAAAGGTAA
137853585	28681	NM_000175.4(GPI):c.1615G>A (p.Asp539Asn)	GPI	Sep 15, 1996	MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	germline	19	34399974	CTTGATGGCAGTGCTCAAGTGACCTCTCACGACGCTTCTACCAATGGGCTCATCAACTTCA
-1	478700	NM_007294.3(BRCA1):c.1154G>A (p.Trp385Ter)	BRCA1	Apr 25, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	43094377	TAAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTGATGAACTGTTAGGTTC
111320759	29383	NM_000900.4(MGP):c.94+1G>A	MGP	Jun 08, 2017	MedGen:C1855607,OMIM:245150,Orphanet:ORPHA85202;MedGen:CN517202	Keutel syndrome;not provided	germline	12	14884212	CACATGAAAGCATGGAATCTTATGAACTTAGTAAGTGAATATTTAACTTCTTTATTCAAAT
587783945	168408	NM_133433.3(NIPBL):c.4320+1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37008089	CAGTTGTGTGCCATTAAGTTAGTCACTGCAGTAAGTATAATCAATTTGTATTTTTAGTTAC
67815019	413980	NM_000088.3(COL1A1):c.3505G>A (p.Gly1169Ser)	COL1A1	Jul 06, 2017	MeSH:D010013,MedGen:C0029434,Orphanet:ORPHA666,SNOMED CT:78314001;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta;Osteogenesis imperfecta type I	germline;maternal;unknown	17	50187041	CCTGGCCCCATTGGGCCCCCTGGTCCTCGCGGTCGCACTGGTGATGCTGGTCCTGTTGTAT
147623570	132598	NM_001739.1(CA5A):c.555G>A (p.Lys185=)	CA5A	Sep 28, 2017	MedGen:C3810404,OMIM:615751,Orphanet:ORPHA401948;MedGen:CN517202	Carbonic anhydrase VA deficiency, hyperammonemia due to;not provided	germline	16	87902425	TGGTTTGGCTGTGATAGGCGTGTTTTTAAAGGTAATCACTTGCTCGGGTGTAGATCTAATG
118204447	15753	NM_000512.4(GALNS):c.178G>A (p.Asp60Asn)	GALNS	Jul 01, 2003	MedGen:C0086651,OMIM:253000,Orphanet:ORPHA309297,SNOMED CT:7259005	Mucopolysaccharidosis, MPS-IV-A	germline	16	88842772	GGAGAGCCCTCCAGAGAGACCCCGAATTTGGACCGGATGGCTGCAGAAGGGCTGCTTTTCC
142948132	247466	NM_001399.4(EDA):c.1001G>A (p.Arg334His)	EDA	Aug 17, 2016	MedGen:C1970757,OMIM:313500	Tooth agenesis, selective, X-linked, 1	germline	X	70035434	TGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAA
886037861	247684	NM_012062.4(DNM1L):c.1084G>A (p.Gly362Ser)	DNM1L	Aug 25, 2016	MedGen:C3280660,OMIM:614388,Orphanet:ORPHA330050	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	germline	12	32731018	AAACCATATACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTATATTTTCCATG
104886253	36009	NM_000495.4(COL4A5):c.3686G>A (p.Gly1229Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668400	CAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCC
74315368	27820	NM_003000.2(SDHB):c.725G>A (p.Arg242His)	SDHB	Sep 18, 2017	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C1708353,Orphanet:ORPHA29072;MedGen:C0027672,SNOMED CT:699346009;MedGen:C1861848,OMIM:115310;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;MedGen:CN517202	Gastrointestinal stroma tumor;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma;not provided	germline;unknown	1	17022648	CCAAGCTGCAGGACCCATTCTCTCTATACCGCTGCCACACCATCATGAACTGCACAAGGAC
193302912	222904	NM_000202.7(IDS):c.935G>A (p.Gly312Asp)	IDS	Oct 21, 2010	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149490385	CCTCTGTGTCATATTTGGATACACAGGTCGGCCGCCTCTTGAGTGCTTTGGACGATCTTCA
151045328	20182	NM_005709.3(USH1C):c.216G>A (p.Val72=)	USH1C	May 19, 2016	MeSH:D052245,MedGen:C0271097,Orphanet:ORPHA886;MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169;MedGen:C1848604,OMIM:276904	Usher syndrome;Usher syndrome, type 1;Usher syndrome, type 1C	germline;unknown	11	17531431	TCGGCCGCTGATCCCACTGAAGCACCAGGTGGAATATGATCAGCTGACCCCCCGGCGCTCC
398123798	100249	NM_003494.3(DYSF):c.5946+1G>A	DYSF	Jun 14, 2013	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71679236	GCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGG
28936370	24137	NM_001287174.1(ABCC8):c.4058G>A (p.Arg1353His)	ABCC8	Sep 01, 2004	MedGen:C0271714,OMIM:240800,SNOMED CT:62151007	Leucine-induced hypoglycemia	germline	11	17396980	GGAAGATCCAGATCCAGAACCTGAGCGTGCGCTACGACAGCTCCCTGAAGCCGGTGCTGAA
80338849	19858	NM_000441.1(SLC26A4):c.1001+1G>A	SLC26A4	Jan 24, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN239421;MedGen:CN517202	Enlarged vestibular aqueduct;Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome;SLC26A4-Related Disorders;not provided	germline;maternal;unknown	7	107683538	TGCTGGCATTGTTAAATCCATCCCAAGGGGGTGAGTGTGGTGTTCCTCTTAGTACTAATAC
-1	444389	NM_000368.4(TSC1):c.492G>A (p.Trp164Ter)	TSC1	Oct 19, 2017	MedGen:CN517202	not provided	germline	9	132923364	CTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGTACAGATCTCCTC
118204075	16585	NM_000237.2(LPL):c.665G>A (p.Gly222Glu)	LPL	Oct 05, 1992	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19954243	TCACCAGAGGGTCCCCTGGTCGAAGCATTGGAATCCAGAAACCAGTTGGGCATGTTGACAT
398124611	102539	NM_198270.3(NHS):c.953G>A (p.Trp318Ter)	NHS	Jul 12, 2013	MedGen:CN517202	not provided	germline	X	17721541	TCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGACGCCAGA
878854416	243874	NM_020760.3(HECW2):c.3572G>A (p.Arg1191Gln)	HECW2	Jan 10, 2018	MedGen:C4310643,OMIM:617268;MedGen:CN517202	Neurodevelopmental disorder with hypotonia, seizures, and absent language;not provided	germline	2	196242162	CCAATGCCCGGGCTCCAGCCCCTTACAAGCGGGATTTCGAAGCCAAACTGAGGAACTTTTA
63749884	23889	NM_000447.2(PSEN2):c.717G>A (p.Met239Ile)	PSEN2	Dec 23, 2010	MedGen:C1847200,OMIM:606889;MedGen:CN517202	Alzheimer disease, type 4;not provided	germline	1	226888979	GGCCTACCTCATCATGATCAGTGCGCTCATGGCCCTAGTGTTCATCAAGTACCTCCCAGAG
886039389	259648	NM_006147.3(IRF6):c.576G>A (p.Trp192Ter)	IRF6	Mar 24, 2016	MedGen:CN517202	not provided	germline	1	209792360	TGTGGGCAACTGCAGCCCGGAGGCAGTGTGGCCCAAAACTGAACCCCTGGAGATGGAAGTA
111033270	19955	NM_022124.5(CDH23):c.5237G>A (p.Arg1746Gln)	CDH23	Jun 02, 2017	MedGen:CN239227;MedGen:C1832845,OMIM:601067;MedGen:CN517202	CDH23-Related Disorders;Usher syndrome, type 1D;not provided	germline	10	71779316	ACATCAACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTCACTGA
387906523	28498	NM_000371.3(TTR):c.199G>A (p.Gly67Arg)	TTR	Apr 01, 2000	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31593025	GCTGATGACACCTGGGAGCCATTTGCCTCTGGGTAAGTTGCCAAAGAACCCTCCCACAGGA
796053377	202332	NM_003165.3(STXBP1):c.1702+1G>A	STXBP1	Jul 11, 2017	na;MedGen:CN517202	STXBP1-associated neurodevelopmental disorder;not provided	de novo;germline	9	127682561	AGGCCAACGGAAAGTGGGAGGTGCTGATAGGTGAGTGGCCGTGCTTCCAGCGGAAGGCGCC
33950507	30200	NM_000518.4(HBB):c.79G>A (p.Glu27Lys)	HBB	Aug 23, 2017	MedGen:C3841475;na;MedGen:C0002895,OMIM:603903,Orphanet:ORPHA232,SNOMED CT:127040003;MedGen:C0019024,SNOMED CT:83815000;MedGen:C0472777,Orphanet:ORPHA231249,SNOMED CT:234392002;MedGen:C2720293;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202;MedGen:CN169374	Beta-plus-thalassemia;HEMOGLOBIN T (CAMBODIA);Hb SS disease;Hemoglobin E;Hemoglobin E/beta thalassemia disease;Malaria, resistance to;beta Thalassemia;not provided;not specified	germline;unknown	11	5226943	GGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTAC
79436363	132656	NM_025132.3(WDR19):c.3533G>A (p.Arg1178Gln)	WDR19	May 30, 2017	MedGen:C4225376,OMIM:616307;MedGen:CN517202	Senior-Loken syndrome 8;not provided	germline	4	39273029	ATCACATGAAAGGGGCTCGCATGCTCATTCGGGTGGCCAACAACATCAGCAAATTTCCATC
104894525	22747	NM_000303.2(PMM2):c.385G>A (p.Val129Met)	PMM2	Feb 23, 2017	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002;MedGen:CN517202	Carbohydrate-deficient glycoprotein syndrome type I;not provided	germline;unknown	16	8811116	TTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAG
121434596	28940	NM_002524.4(NRAS):c.38G>A (p.Gly13Asp)	NRAS	May 31, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MedGen:C0278701;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;MedGen:C2750732,OMIM:613224;MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of stomach;Colorectal Neoplasms;Juvenile myelomonocytic leukemia;Malignant lymphoma, non-Hodgkin;Malignant melanoma;Malignant melanoma of skin;Medulloblastoma;Multiple myeloma;Myelodysplastic syndrome;Noonan syndrome 6;RAS-associated autoimmune leukoproliferative disorder;Transitional cell carcinoma of the bladder;not provided	germline;somatic;unknown	1	114716123	AGTACAAACTGGTGGTGGTTGGAGCAGGTGGTGTTGGGAAAAGCGCACTGACAATCCAGCT
121909546	33042	NM_000488.3(SERPINC1):c.1306G>A (p.Ala436Thr)	SERPINC1	Jun 16, 1988	MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED CT:36351005	Antithrombin III deficiency	germline	1	173903978	TCGCTAAACCCCAACAGGGTGACTTTCAAGGCCAACAGGCCTTTCCTGGTTTTTATAAGAG
368647424	51366	NM_005984.4(SLC25A1):c.389G>A (p.Gly130Asp)	SLC25A1	Apr 29, 2013	MedGen:C2746066,OMIM:615182,Orphanet:ORPHA19	Combined d-2- and l-2-hydroxyglutaric aciduria	germline	22	19177779	ACAGCACGCGTGGGCTGCTGTGCGGCCTGGGCGCTGGCGTGGCCGAGGCCGTGGTGGTCGT
199473368	78456	NM_000891.2(KCNJ2):c.200G>A (p.Arg67Gln)	KCNJ2	May 28, 2015	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	17	70175239	AGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGT
397515355	19301	NM_000784.3(CYP27A1):c.1263+1G>A	CYP27A1	Oct 19, 2017	MedGen:C0238052,OMIM:213700,Orphanet:ORPHA909,SNOMED CT:63246000;MedGen:CN517202	Cholestanol storage disease;not provided	germline	2	218814459	GAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAG
1085307107	227720	NM_182760.3(SUMF1):c.337G>A (p.Glu113Lys)	SUMF1	Apr 01, 2016	MedGen:C0268263,OMIM:272200,Orphanet:ORPHA585,SNOMED CT:54898003	Multiple sulfatase deficiency	germline	3	4452983	ACAGATGATCCTCAGATAAAGCAGGATGGGGAAGCACCTGCGAGGAGAGTTACTATTGATG
137852259	25652	NM_000133.3(F9):c.1136G>A (p.Arg379Gln)	F9	Oct 01, 1988	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561821	TTCAGTACCTTAGAGTTCCACTTGTTGACCGAGCCACATGTCTTCGATCTACAAAGTTCAC
121912904	32285	NM_000089.3(COL1A2):c.2414G>A (p.Gly805Asp)	COL1A2	Dec 21, 2017	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	7	94422967	CCTTGTACATTTGCTCATAGGGTATTTCTGGCCCTCCTGGTCCCCCTGGTCCTGCTGGGAA
104886096	35705	NM_000495.4(COL4A5):c.1094G>A (p.Gly365Glu)	COL4A5	Feb 02, 2016	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	inherited	X	108586676	TAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGAAAAAGGAGAGCGAGGATT
797045367	209266	NM_000052.6(ATP7A):c.3112-1G>A	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78031399	ATCAAGTCATTGTATCTTAATTTTTTTACAGGTAAAGGTAGTGGTATTTGATAAGACTGGA
121918614	27963	NM_000702.3(ATP1A2):c.2152G>A (p.Asp718Asn)	ATP1A2	May 25, 2004	MedGen:C1865322,OMIM:602481	Familial hemiplegic migraine type 2	germline	1	160135470	ATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTG
41270025	23736	NM_000309.4(PPOX):c.503G>A (p.Arg168His)	PPOX	May 17, 2017	MedGen:C0162532,OMIM:176200,Orphanet:ORPHA79473,SNOMED CT:58275005;MedGen:CN517202	Variegate porphyria;not provided	germline	1	161168463	TGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCT
756026847	214738	NR_023343.1(RNU4ATAC):n.37G>A	RNU4ATAC	Nov 02, 2015	Gene:57788,MedGen:C1846059,OMIM:616651,Orphanet:ORPHA353298	Roifman syndrome	germline	2	121530916	CCTTTTCTTGGGGTTGCGCTACTGTCCAATGAGCGCATAGTGAGGGCAGTACTGCTAACGC
45515894	27446	NM_000548.4(TSC2):c.1322G>A (p.Trp441Ter)	TSC2	Sep 01, 2009	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2062561	CGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGGCGCTGATGGAGAG
72648320	44562	NM_000088.3(COL1A1):c.1200+1G>A	COL1A1	Aug 18, 2011	MeSH:D010013,MedGen:C0029434,Orphanet:ORPHA666,SNOMED CT:78314001	Osteogenesis imperfecta	germline	17	50195433	GATGGACAGCCTGGTGCTAAAGGTGCCAATGTAAGTATCCTGCCAGGCTTCAGTCCCACTC
587776981	59861	NM_001127496.1(SPRY4):c.46G>A (p.Val16Ile)	SPRY4	May 02, 2013	MedGen:C3808971,OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia	germline	5	142315063	CCACAGAGCGCCCCCTTGACTCCCAACTCAGTCATGGTCCAGCCCCTTCTTGACAGCCGGA
104894229	27641	NM_005343.3(HRAS):c.34G>A (p.Gly12Ser)	HRAS	Jun 19, 2017	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;MeSH:D003528,MedGen:C0010606;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008;MedGen:C3277679;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;MeSH:D009190,MedGen:C0026986,OMIM:614286;MedGen:C1968782;MeSH:D009303,MedGen:C0027439;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;MedGen:C0853032;MedGen:CN231320;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MeSH:C538614,MedGen:C1336078;MedGen:CN166718,Orphanet:ORPHA98733;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006739,MedGen:C0553723;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MeSH:D002583,MedGen:CN236667;MedGen:CN517202;MedGen:CN169374	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adenoid cystic carcinoma;Carcinoma of esophagus;Colorectal Neoplasms;Costello syndrome;Epidermal nevus with urothelial cancer, somatic;Glioblastoma;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Myelodysplastic syndrome;Myopathy, congenital, with excess of muscle spindles;Nasopharyngeal Neoplasms;Neoplasm of the breast;Neoplasm of the thyroid gland;Nevus sebaceous;Nevus, woolly hair;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Rasopathy;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;Uterine cervical neoplasms;not provided;not specified	de novo;germline;somatic;unknown	11	534289	ACGGAATATAAGCTGGTGGTGGTGGGCGCCGGCGGTGTGGGCAAGAGTGCGCTGACCATCC
587781702	151091	NM_000546.5(TP53):c.920-1G>A	TP53	Oct 04, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	7673609	CTTTTATCACCTTTCCTTGCCTCTTTCCTAGCACTGCCCAACAACACCAGCTCCTCTCCCC
760428437	260004	NM_001360.2(DHCR7):c.1396G>A (p.Val466Met)	DHCR7	Apr 22, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline	11	71435407	GGCCGGGACTGGGAGCGCTACACCGCCGCAGTGCCTTACCGCCTGCTGCCTGGAATCTTCT
199469633	106408	NM_017415.2(KLHL3):c.1480G>A (p.Ala494Thr)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137628408	GGGGTTGGAGTGCTTAGCGGACAGCTGTACGCCACAGGTGGGCATGATGGGCCTTTGGTGA
121913551	29405	NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg)	PLOD1	Feb 03, 2017	MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED CT:25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient	germline	1	11974656	AGGCCACTGATGCTTTCTGTCTCCCAGGGCGGGGGCTGTCGGTTCCTGCGCTACAACTGTT
199474826	24698	m.8009G>A	MT-CO2	Nov 01, 1998	MedGen:CN029768	Familial colorectal cancer	unknown	MT	8009	GACCTGCGACTCCTTGACGTTGACAATCGAGTAGTACTCCCGATTGAAGCCCCCATTCGTA
281865348	104869	NM_000330.3(RS1):c.522+1G>A	RS1	Aug 04, 2016	MedGen:C0271091,OMIM:312700,Orphanet:ORPHA792,SNOMED CT:86923008;MedGen:CN517202	Juvenile retinoschisis;not provided	germline;unknown	X	18644429	TACTACAAGGACCAGACTGGAAACAACCGGGTAAGTTGGGCTTATCCCAAACCAACTTCAG
118192136	76851	NM_000540.2(RYR1):c.13912G>A (p.Gly4638Ser)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38572184	ATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATGGAACCCGCCCTGCGGTGTCTGA
137852228	25612	NM_000133.3(F9):c.224G>A (p.Arg75Gln)	F9	Sep 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139537145	TGGAAGAAAAGTGTAGTTTTGAAGAAGCACGAGAAGTTTTTGAAAACACTGAAAGAACAGT
104895085	17592	NM_000243.2(MEFV):c.1958G>A (p.Arg653His)	MEFV	Feb 23, 2017	MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED CT:12579009;MedGen:CN517202	Familial Mediterranean fever;not provided	germline	16	3243529	TGGGCTCTCCGAGTTTCCTCTCTGGCCGCCGTTACTGGGAGGTGGAGGTTGGAGACAAGAC
387907350	51198	NM_001130004.1(ACTN1):c.673G>A (p.Glu225Lys)	ACTN1	Mar 07, 2013	MedGen:C3554663,OMIM:615193	Platelet-type bleeding disorder 15	germline	14	68904658	TACCTGGACATCCCCAAGATGCTGGATGCCGAAGGTGAAAGGCGCTTTCCTTCTGTGTCTC
191875469	439194	NM_007055.3(POLR3A):c.1909+22G>A	POLR3A	Jun 02, 2017	MedGen:CN517202	not provided	germline	10	78009515	ATGATTCCTGTGAGTGGACGGAACTCGGGTGGGGAGAAGGAGGAACGTGACAGAAAAGCAA
121918322	23744	NM_002010.2(FGF9):c.296G>A (p.Ser99Asn)	FGF9	Jul 01, 2009	MedGen:C2751826,OMIM:612961	Multiple synostoses syndrome 3	germline	13	21681060	CTTTGTCTACAGGCATTCTGGAATTTATCAGTATAGCAGTGGGCCTGGTCAGCATTCGAGG
81002802	67422	NM_000059.3(BRCA2):c.9117+1G>A	BRCA2	Dec 14, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32379914	ACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTT
879253838	224633	NM_000255.3(MUT):c.1084-1G>A	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49451715	TTGAGTTTTTGTTTTTTATCAAATATTTTAGGATCCCTACAATAATATTGTCCGTACTGCA
397508470	68281	NM_000492.3(CFTR):c.2989-1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline;unknown	7	117610518	ACTCACCAACATGTTTTCTTTGATCTTACAGTTGTTATTAATTGTGATTGGAGCTATAGCA
587783697	168905	NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter)	KMT2D	Feb 08, 2013	MedGen:CN030661,OMIM:147920	Kabuki syndrome 1	germline	12	49024940	ACTGCTCTCTTCCCTGCTTCTTAGCCGTGTGGAATCGCATCATTGAGCCTGTGGCTGCCAT
587777483	143179	NM_006623.3(PHGDH):c.488G>A (p.Arg163Gln)	PHGDH	Jun 05, 2014	MedGen:CN032230,OMIM:256520	Neu-Laxova syndrome 1	germline	1	119727080	TGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATG
-1	481490	NM_001001563.3(TIMM50):c.973G>A (p.Ala325Thr)	TIMM50	Nov 02, 2017	MedGen:CN510468,OMIM:617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	paternal	19	39486463	GGCTTCATCTCCTACCGCCTATTCCGGGACGCCACAAGATACATGGATGGACACCATGTAA
1064793976	405721	NM_014946.3(SPAST):c.1729-1G>A	SPAST	Aug 22, 2015	MedGen:CN517202	not provided	germline	2	32154373	TTGTATTGTCATGTGCTTTTTAAAAATCTAGATGAGAAATATTCGATTATCTGACTTCACT
62507336	108472	NM_000277.2(PAH):c.561G>A (p.Trp187Ter)	PAH	Dec 27, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102855281	GGAATACATGGAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTG
1057519646	362648	NM_015295.2(SMCHD1):c.404G>A (p.Ser135Asn)	SMCHD1	Feb 27, 2017	MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135	Arhinia choanal atresia microphthalmia	de novo;germline;unknown	18	2667011	TTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCGTAAGTATCC
779538333	264873	NM_130810.3(DNAAF4):c.1047+1G>A	DNAAF4	May 16, 2016	MedGen:CN517202	not provided	germline	15	55434904	TTACACAAGGCTATTGAAGATTCTTCTAAGGTATGGATATCTATGTATGATATATGGTGCT
80356798	24106	NM_001876.3(CPT1A):c.1876-1G>A (p.Val626_Glu676del)	CPT1A	Jul 29, 2016	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline;unknown	11	68761688	ACATATGTCCTTCCCACCTTTTGTCACTCAGGTGGAACAGAGGCTGAAGTTGTTCAAGTTG
876661168	231525	NM_004321.7(KIF1A):c.506G>A (p.Arg169Lys)	KIF1A	Dec 17, 2015	MedGen:CN517202	not provided	germline	2	240786437	ACCCCAAGAACAAGGGCAACCTTCGCGTGAGGGAGCACCCACTGCTGGGGCCCTACGTGGA
-1	459066	NM_000368.4(TSC1):c.2027G>A (p.Trp676Ter)	TSC1	Mar 07, 2017	MedGen:C1854465,OMIM:191100	Tuberous sclerosis 1	germline	9	132904425	GGTTGCCTTTACCCAGCAAGTCTGTCGACTGGACCCACTTTGGAGGTAAAGTTGTTACTTT
185836803	48235	NM_017570.4(OPLAH):c.3265G>A (p.Val1089Ile)	OPLAH	Jan 24, 2013	Human Phenotype Ontology:HP:0040142,MedGen:C0268525,OMIM:260005,Orphanet:ORPHA33572,SNOMED CT:26132002	5-Oxoprolinase deficiency	germline	8	144052487	AACGTGCTCACGTCGCAGCGCGTGGTGGATGTCATCCTGGGGGCCTTTGGGGCCTGCGCCG
28933673	25290	NM_000132.3(F8):c.3169G>A (p.Glu1057Lys)	F8	Mar 18, 2016	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154930621	GTCTGGCAAAATATATTAGAAAGTGACACTGAGTTTAAAAAAGTGACACCTTTGATTCATG
786205837	188678	NM_001037.4(SCN1B):c.73G>A (p.Asp25Asn)	SCN1B	Feb 17, 2012	MedGen:CN517202	not provided	germline	19	35032560	TCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGA
121909579	32601	NM_000096.3(CP):c.2630G>A (p.Trp877Ter)	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004;MedGen:C1858582	Deficiency of ferroxidase;Hypoceruloplasminemia	germline	3	149179587	CTGGAACAGAGGATTCTGCTTGTATTCCATGGGCTTATTATTCAACTGTGGATCAAGTTAA
398124641	44139	NM_024531.4(SLC52A2):c.916G>A (p.Gly306Arg)	SLC52A2	Jul 28, 2017	MedGen:C3553538,OMIM:614707;MedGen:CN517202	Brown-Vialetto-Van Laere syndrome 2;not provided	germline	8	144360408	GCCGTGCAGAGCTTTTCCTGCTTACCCTACGGGCGTCTGGCCTACCACCTGGCTGTGGTGC
765586205	447010	NM_005957.4(MTHFR):c.1530G>A (p.Lys510=)	MTHFR	Jul 11, 2017	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11793907	GGGCCCCAGCGGGGGCTATGTCTTCCAGAAGGTGTGGTAGGGAGGCACGGGGTGCCCCCCT
312262746	49720	NM_025137.3(SPG11):c.2697G>A (p.Trp899Ter)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44620327	TCGCCATGATTGGTTAAACATTATCTTATGGATTGGAGAATTTCAAACCCAGCATAGTTAT
121912668	27946	NM_000343.3(SLC5A1):c.82G>A (p.Asp28Asn)	SLC5A1	May 01, 1996	MedGen:C0268186,OMIM:606824,Orphanet:ORPHA35710,SNOMED CT:27943000	Congenital glucose-galactose malabsorption	germline	22	32043363	GAGACCCACGAGCTCATTCGCAATGCAGCCGATATCTCCATCATCGTTATCTACTTCGTGG
587776809	430421	NM_001754.4(RUNX1):c.352-1G>A	RUNX1	Oct 27, 2015	MedGen:C1832388,OMIM:601399,Orphanet:ORPHA71290	Familial platelet disorder with associated myeloid malignancy	germline	21	34880714	TGTCTGCATTTGTCCTTTGACTGGTGTTTAGGTGGTGGCCCTAGGGGATGTTCCAGATGGC
111683277	175150	NM_000256.3(MYBPC3):c.3190+1G>A	MYBPC3	Oct 06, 2017	MedGen:C1861862,OMIM:115197;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided	germline;unknown	11	47333556	ACAAGGCCACGCTGGTGCTGCAGGTTGTTGGTGCGTGGCCAAGGCCTCCTTGAGCCCCCTT
-1	262636	NM_001256214.1(ATP1A3):c.424G>A (p.Val142Met)	ATP1A3	Apr 11, 2016	MedGen:CN236437	Juvenile onset psychosis	de novo	19	41986202	CAGCTGTACCTGGGCATCGTGCTGGCGGCCGTGGTGATCATCACTGGCTGCTTCTCCTACT
1060500747	404465	NM_000169.2(GLA):c.735G>A (p.Trp245Ter)	GLA	Sep 23, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398851	CTGGAAAAGTATAAAGAGTATCTTGGACTGGACATCTTTTAACCAGGAGAGAATTGTTGAT
1060499598	404826	NM_000303.2(PMM2):c.255+1G>A	PMM2	Feb 17, 2016	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002	Carbohydrate-deficient glycoprotein syndrome type I	germline	16	8804844	TACAAAGATGGGAAACTCTTGTGTAGACAGGTAGGTTCTTGAGTATCTGAATTACTATATA
66555264	414003	NM_000088.3(COL1A1):c.1821+1G>A	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50192993	CGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTT
137933052	102917	NM_002160.3(TNC):c.5317G>A (p.Val1773Met)	TNC	Jul 30, 2013	MedGen:C3810170,OMIM:615629	Deafness, autosomal dominant 56	germline	9	115041016	CAGACCAGGCTGGTGAAACTCATACCTGGCGTGGAGTACCTTGTCAGCATCATCGCCATGA
121913133	29885	NM_000183.2(HADHB):c.740G>A (p.Arg247His)	HADHB	Mar 09, 2017	MedGen:C0342786,OMIM:609015,SNOMED CT:237999008;MedGen:CN517202	Mitochondrial trifunctional protein deficiency;not provided	germline	2	26279244	CTCGGCTGGAACAGGATGAATATGCACTGCGCTCTCACAGTCTAGCCAAGAAGGCACAGGA
121908048	18696	NM_000229.1(LCAT):c.951G>A (p.Met317Ile)	LCAT	Jul 31, 1991	MedGen:C0023195,OMIM:245900,Orphanet:ORPHA650	Norum disease	germline	16	67940276	AGACCTGCACTTTGAGGAAGGCTGGTACATGTGGCTGCAGTCACGTGACCTCCTGGCAGGA
397508775	68700	NM_000492.3(CFTR):c.647G>A (p.Trp216Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117535315	TGCAAGTGGCACTCCTCATGGGGCTAATCTGGGAGTTGTTACAGGCGTCTGCCTTCTGTGG
398123042	75077	NM_002246.2(KCNK3):c.544G>A (p.Glu182Lys)	KCNK3	Jul 25, 2013	MedGen:C3809198,OMIM:615344	Primary pulmonary hypertension 4	germline	2	26727927	TGCATCGGCGCCGCCGCCTTCTCCCACTACGAGCACTGGACCTTCTTCCAGGCCTACTACT
376142095	166369	NM_144773.3(PROKR2):c.743G>A (p.Arg248Gln)	PROKR2	Sep 01, 2008	MedGen:C4017072	Hypogonadotropic hypogonadism 3 without anosmia	germline	20	5302452	CCATGACCCTGTGCTATGCCAGGATCTCCCGGGAGCTCTGGTTCAAGGCAGTCCCTGGGTT
587783306	167789	NM_000053.3(ATP7B):c.2865+1G>A	ATP7B	Nov 19, 2015	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51949661	GATTTTGGTGTTGTTCAGAGATACTTTCCTGTAAGTTGAATGCCTTGGGCTATATGGTGGT
104894413	186861	NM_004004.5(GJB2):c.131G>A (p.Trp44Ter)	GJB2	Aug 08, 2017	MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383;MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:C2673759,OMIM:220290;MedGen:C1865234,OMIM:602540;MedGen:C1835678,OMIM:148210;MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202;MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED CT:1271009;MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED CT:24559001;MedGen:CN517202	Deafness, X-linked 2;Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Mutilating keratoderma;not provided	germline;unknown	13	20189451	TGATCCTCGTTGTGGCTGCAAAGGAGGTGTGGGGAGATGAGCAGGCCGACTTTGTCTGCAA
121908192	23730	NM_005262.2(GFER):c.581G>A (p.Arg194His)	GFER	Sep 26, 2012	MedGen:C2751320,OMIM:613076,Orphanet:ORPHA330054;MedGen:CN517202	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay;not provided	germline	16	1985991	CTGACTTCGACTGCTCAAAAGTGGATGAGCGCTGGCGCGACGGCTGGAAGGATGGCTCCTG
72645323	32355	NM_000088.3(COL1A1):c.787G>A (p.Gly263Arg)	COL1A1	Jul 05, 1986	MeSH:D010013,MedGen:C0029434,Orphanet:ORPHA666,SNOMED CT:78314001	Osteogenesis imperfecta	germline	17	50197027	CGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTT
587779622	107091	NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003771	CTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTA
1801176	27048	NM_000151.3(G6PC):c.248G>A (p.Arg83His)	G6PC	Dec 30, 2016	MedGen:C2919796,OMIM:232200	Glycogen storage disease type 1A	germline;unknown	17	42903948	TGTTTTTCCATAGGATTCTCTTTGGACAGCGTCCATACTGGTGGGTTTTGGATACTGACTA
398124635	31515	NM_000146.3(FTL):c.-168G>A	FTL	Feb 19, 2013	MedGen:C1833213,OMIM:600886,Orphanet:ORPHA163	Hyperferritinemia cataract syndrome	germline	19	48965340	CAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCG
121918573	28168	NM_000536.3(RAG2):c.1433G>A (p.Cys478Tyr)	RAG2	Oct 04, 1996	MedGen:C1867362	Severe combined immunodeficiency, B cell-negative	germline	11	36592736	ATCTGTCAGCAGGAAGCAACAAGTATTACTGCAATGAGCATGTGGAGATAGCAAGAGCTCT
730882160	181305	NM_001195129.1(PRSS56):c.709G>A (p.Gly237Arg)	PRSS56	Jan 01, 2011	MedGen:C3150757,OMIM:613517	Microphthalmia, isolated 6	germline	2	232523062	ACCTGAGCCTTCCACCCCTTCCCTGCAGACGGGCCTGAGGCTGAAGCAGTGAGAGAGGCCC
63751105	96424	NM_000251.2(MSH2):c.2292G>A (p.Trp764Ter)	MSH2	Sep 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47478353	TTCTACCTACGATGGATTTGGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGATT
397507170	46846	NM_000060.4(BTD):c.184G>A (p.Val62Met)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15635563	CATCACGAGGCTGAATATTATGTGGCTGCCGTGTATGAGCATCCATCCATCCTGAGTCTGA
119468004	18675	NM_020247.4(COQ8A):c.1651G>A (p.Glu551Lys)	COQ8A	Oct 11, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485;MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4;Coenzyme Q10 deficiency, primary, 4	germline	1	226985332	TCCATAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGCAGGGTTGCGGGGGATC
28929478	32828	NM_170665.3(ATP2A2):c.68G>A (p.Gly23Glu)	ATP2A2	Aug 19, 2015	MedGen:C0022595,OMIM:124200,Orphanet:ORPHA218,SNOMED CT:48611009;MedGen:CN517202	Keratosis follicularis;not provided	germline	12	110281857	TGGGCCACTTCGGCGTCAACGAGAGTACGGGGCTGAGCCTGGAACAGGTCAAGAAGCTTAA
786204753	186834	NM_000391.3(TPP1):c.1379G>A (p.Trp460Ter)	TPP1	Aug 10, 2017	MedGen:C1876161,OMIM:204500,Orphanet:ORPHA228349;MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007;MedGen:CN517202	Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;not provided	germline;unknown	11	6615217	CAGATGTGGCTGCACTTTCTGATGGCTACTGGGTGGTCAGCAACAGAGTGCCCATTCCATG
672601378	171803	NM_000834.4(GRIN2B):c.1619G>A (p.Arg540His)	GRIN2B	Jan 01, 2014	MedGen:C3151411,OMIM:613970	Mental retardation, autosomal dominant 6	germline	12	13615149	TAGAGACAGGCATCAGTGTCATGGTGTCACGCAGCAATGGGACTGTCTCACCTTCTGCCTT
879255553	247504	NM_145861.2(EDARADD):c.120+1G>A	EDARADD	Aug 09, 2016	MedGen:C3539920,OMIM:614941	Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	germline	1	236409275	ACAGACCCTAGCACTTTATCCTTTAATATGGTAGGTGACAAATTTTACACTAATGGTGATA
80356513	21438	NM_001457.3(FLNB):c.4756G>A (p.Gly1586Arg)	FLNB	Oct 09, 2008	MedGen:C0175778,SNOMED CT:63387002;MedGen:C1835564,OMIM:150250	Larsen syndrome;Larsen syndrome, dominant type	germline	3	58136063	TATGCTGTCACCTACATCCCCGACAAGACTGGGCGCTATATGATTGGAGTCACCTACGGGG
63750273	21613	NM_001171.5(ABCC6):c.3736-1G>A	ABCC6	Jan 13, 2012	MedGen:C3276161,OMIM:614473;MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Generalized arterial calcification of infancy 2;Pseudoxanthoma elasticum	germline	16	16157810	TCCTCTGACTCAGTTTCCCCTCCTGCTCCAGGCTCCCTGGAGGCTGCCCACATGTGCAGCT
587784200	168274	NM_022455.4(NSD1):c.6455G>A (p.Arg2152Gln)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177292150	ACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGT
137853056	22081	NM_004562.2(PRKN):c.1358G>A (p.Trp453Ter)	PRKN	Sep 01, 2005	MedGen:C1868675,OMIM:600116	Parkinson disease 2	germline	6	161350139	TCGAGTGGTGCTGGAACTGTGGCTGCGAGTGGAACCGCGTCTGCATGGGGGACCACTGGTT
111437558	390676	NM_000507.3(FBP1):c.825+1G>A	FBP1	Mar 27, 2017	MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005	Fructose-biphosphatase deficiency	germline	9	94605456	CCCGCTAACAAGAAGAGCCCCAATGGAAAGGTAAGGGTGTCCCCTGGAGAGGGAGTGAGGA
587783763	170034	NM_000252.2(MTM1):c.1232G>A (p.Trp411Ter)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150657999	AAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCTGT
121912777	32641	NM_001025195.1(CES1):c.428G>A (p.Gly143Glu)	CES1	Jun 01, 2008	MedGen:CN071470	Carboxylesterase 1 deficiency	germline	16	55823661	CTGCCCAGGTGATGGTGTGGATCCACGGAGGGGGGCTGATGGTGGGTGCGGCATCAACCTA
1064796593	407277	NM_000089.3(COL1A2):c.1702G>A (p.Gly568Ser)	COL1A2	Feb 17, 2017	MedGen:CN517202	not provided	germline	7	94414258	CCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAA
1057519073	359054	NM_019056.6(NDUFB11):c.391G>A (p.Glu131Lys)	NDUFB11	Mar 16, 2017	MedGen:C1838979,OMIM:252010;MedGen:CN517202	Mitochondrial complex I deficiency;not provided	germline	X	47142418	ACTACCAGGATGAAAGAGTGGTCCCGCCGCGAAGCTGAGAGGCTTGTGAAATACCGAGAGG
-1	441045	NM_000083.2(CLCN1):c.908G>A (p.Trp303Ter)	CLCN1	Apr 07, 2015	MedGen:CN517202	not provided	germline	7	143330826	CCTCCACCTACTTTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGC
606231469	171283	NM_015978.2(TNNI3K):c.1577G>A (p.Gly526Asp)	TNNI3K	Jan 29, 2015	MedGen:C4015285,OMIM:616117,Orphanet:ORPHA436242	Cardiac conduction disease with or without dilated cardiomyopathy	germline	1	74369495	TCAATCATCCCTGCGTAATTCAGTTTGTGGGTGCTTGCTTGAATGATCCCAGCCAGTTTGC
137852722	76641	NM_024757.4(EHMT1):c.2868-1G>A	EHMT1	May 07, 2015	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Chromosome 9q deletion syndrome	germline	9	137813005	ATGTTTTGTGGCCTTACATTTTCCCTTTTAGCCTCTTTCTTTCTCGGGATTCAGATGTCAC
886037957	259239	NM_017644.3(KLHL24):c.3G>A (p.Met1Ile)	KLHL24	Jan 12, 2017	MedGen:C0079299,OMIM:131900,Orphanet:ORPHA79399,SNOMED CT:90496008;MedGen:C4310631,OMIM:617294	Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, generalized, with scarring and hair loss	germline;not applicable	3	183650359	AACAATTATATAGTCAACTGATGTAACAATGGTACTAATATTGGGACGCAGACTAAACAGA
33915217	30488	NM_000518.4(HBB):c.92+5G>A	HBB	Aug 06, 2014	MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000	Beta-plus-thalassemia;beta Thalassemia	germline;unknown	11	5226925	GAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGTTTAAGGAGA
200727689	181228	NM_000527.4(LDLR):c.502G>A (p.Asp168Asn)	LDLR	Jun 29, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;not applicable;unknown	19	11105408	TCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGG
281875319	38820	NM_006907.3(PYCR1):c.743G>A (p.Gly248Glu)	PYCR1	Dec 01, 2011	MedGen:C3280799,OMIM:614438,Orphanet:ORPHA293633;MedGen:CN517202	Autosomal recessive cutis laxa type 3B;not provided	germline	17	81934380	CCATCCATGCCTTGCATGTGCTGGAGAGTGGGGGCTTCCGCTCCCTGCTCATCAACGCTGT
949249162	481713	NM_004453.3(ETFDH):c.171G>A (p.Trp57Ter)	ETFDH	Aug 08, 2016	MedGen:CN517202	not provided	germline	4	158680603	TATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCC
78310315	32855	NM_031226.2(CYP19A1):c.1310G>A (p.Cys437Tyr)	CYP19A1	Dec 15, 1993	MedGen:C0878680,OMIM:613546,Orphanet:ORPHA91	Aromatase deficiency	germline	15	51211010	TTCAGCCATTTGGCTTTGGGCCCCGTGGCTGTGCAGGAAAGTACATCGCCATGGTGATGAT
267606944	15255	NM_000285.3(PEPD):c.1234G>A (p.Glu412Lys)	PEPD	Dec 01, 2006	MedGen:C0268532,OMIM:170100	Prolidase deficiency	germline	19	33388000	CACCTGCAGCCAGGCATGGTGCTCACCGTGGAGCCGGGCATCTACTTCATCGACCACCTCC
876661121	260220	NM_000214.2(JAG1):c.3048+1G>A	JAG1	Apr 20, 2016	MedGen:CN517202	not provided	germline	20	10641112	TCAGCGAACAATGAAATACATGTGGCCATTGTAAGTATAAGACCCATTCACACCTCATTAT
606231425	170963	NM_015506.2(MMACHC):c.464G>A (p.Gly155Glu)	MMACHC	Aug 01, 2013	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26	Methylmalonic acidemia with homocystinuria	germline	1	45508830	TATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCT
137852358	25137	NM_000132.3(F8):c.6683G>A (p.Arg2228Gln)	F8	Feb 01, 1990	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154861758	TGTTTGCCACCTGGTCTCCTTCAAAAGCTCGACTTCACCTCCAAGGGAGGAGTAATGCCTG
137852238	25624	NM_000133.3(F9):c.572G>A (p.Arg191His)	F9	Nov 15, 1990	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139551113	TTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTA
-1	433343	NM_000020.2(ACVRL1):c.525+1G>A	ACVRL1	Oct 07, 2016	MedGen:CN169374	not specified	germline	12	51913771	GCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGGACACAGGGTG
121434289	18578	NM_130849.3(SLC39A4):c.1120G>A (p.Gly374Arg)	SLC39A4	Jul 01, 2002	MedGen:C0221036,OMIM:201100,Orphanet:ORPHA37,SNOMED CT:37702000	Hereditary acrodermatitis enteropathica	germline	8	144414291	TTCCTGAGCCTGGCAGTGGGTGCAGTCACTGGGGACGCTGTCCTGCATCTGACGCCCAAGG
201727231	260092	NM_001083614.1(EARS2):c.1547G>A (p.Arg516Gln)	EARS2	Apr 22, 2015	MedGen:CN517202	not provided	germline	16	23524396	TGGCCTTGGGACCAAAGGAAGTACGGGAACGGATCCAGAAGGTGGTTTCCAGCTAGGGAGA
267606741	32320	NM_000089.3(COL1A2):c.1262G>A (p.Gly421Asp)	COL1A2	Jun 23, 2011	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	7	94411066	TTTTTTTTTTTTTTGAATAGGGCCCTCCTGGTAGTCGTGGTGCAAGTGGCCCTGCTGGAGT
587779696	107203	NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188993406	GCAGGGTCTCCTGGTTCAAATGGTGCCCCTGGACAAAGAGGAGAACCTGGACCTCAGGGAC
587777792	166220	NM_006218.3(PIK3CA):c.652G>A (p.Glu218Lys)	PIK3CA	Jan 10, 2013	MedGen:C3554518,OMIM:615108	Cowden syndrome 5	germline	3	179201379	ACTCTGAAAATCAACCATGACTGTGTACCAGAACAAGTAATTGCTGAAGCAATCAGGAAAA
1064793161	405684	NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln)	KIF1A	Aug 08, 2017	MedGen:C3280283,OMIM:614255;MedGen:CN517202	Mental retardation, autosomal dominant 9;not provided	de novo;germline	2	240775889	AAAAGAAGAAGACAGATTTCATTCCGTACCGAGATTCCGTGTTGACCTGGCTCCTCCGGGA
869025272	222974	NM_177987.2(TUBB8):c.1249G>A (p.Asp417Asn)	TUBB8	Mar 02, 2017	MedGen:C4225210,OMIM:616780	Oocyte maturation defect 2	germline	10	47143	GAATTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCTGAATATCAGCAATATCAGG
886044841	269633	NM_005183.3(CACNA1F):c.2576+1G>A	CACNA1F	Jan 25, 2016	MedGen:C1848172,OMIM:300071	Congenital stationary night blindness, type 2A	germline	X	49219633	CGCCTTCTTCTGCCTCAGCCAAACCAACCCGTGAGTGCCGGAAGTGGCAGGGGGTGAGGCA
139093330	263644	NM_144772.2(NAXE):c.516+1G>A	NAXE	Nov 14, 2016	MedGen:C4310675,OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	germline	1	156592671	ATCCCTTTCCTTGGGGAAATGCCCGCAGAGGTAGGTGGCTCCAGTTGAATACCTCCATCCT
-1	482129	NM_000267.3(NF1):c.6162G>A (p.Trp2054Ter)	NF1	Nov 28, 2017	MedGen:CN517202	not provided	germline	17	31336712	AACTCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATG
797045002	215062	NM_183357.2(ADCY5):c.2088+1G>A	ADCY5	Dec 17, 2015	MedGen:C1847627,OMIM:606703,Orphanet:ORPHA324588	Dyskinesia, familial, with facial myokymia	germline	3	123325321	AACCAGGTGTCCAAGGAGATGAAGCGGATGGTGAGTGGCTGGTGGGGCAGCCTGTGGGCAA
1114167416	413949	NM_000089.3(COL1A2):c.326G>A (p.Gly109Asp)	COL1A2	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	maternal	7	94404694	TGGAGTATGACATTCTTTTTTTCTTTTAGGGCCCTCAAGGTTTCCAAGGACCTGCTGGTGA
-1	438556	NM_018890.3(RAC1):c.151G>A (p.Val51Met)	RAC1	Oct 31, 2017	MedGen:CN580791,OMIM:617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48	germline	7	6391967	TCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGAC
137853342	23863	NM_001039.3(SCNN1G):c.1718G>A (p.Trp573Ter)	SCNN1G	Sep 01, 1995	MedGen:C0221043,OMIM:177200,Orphanet:ORPHA526,SNOMED CT:71275003	Pseudoprimary hyperaldosteronism	germline	16	23215237	GCCGCCAGTGGCAGAAAGCCAAGGAGTGGTGGGCCTGGAAACAGGCTCCCCCATGTCCAGA
119481080	19920	NM_000197.1(HSD17B3):c.803G>A (p.Cys268Tyr)	HSD17B3	Feb 01, 2001	MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006	Testosterone 17-beta-dehydrogenase deficiency	germline	9	96240777	ATGTCACAATTGGAGGTGAAACCTGTGGCTGCCTTGCCCATGAAATCTTGGTAATTGATAA
771623994	264590	NM_002693.2(POLG):c.1433+1G>A	POLG	Nov 17, 2016	MedGen:CN517202	not provided	germline	15	89327166	TGATGCCTGCCAGCTGCTCTCAGGAGAGAGGTAGCCAGGCCTTGGGTGGGCAGGATCTAGG
200407856	177556	NM_001080522.2(CC2D2A):c.1017+1G>A	CC2D2A	Jul 01, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004;MedGen:C2676788,OMIM:612285	Joubert syndrome;Joubert syndrome 9	germline;unknown	4	15516005	ATGGAGAACAGATTGCTGATGCAGGACCCCGTAAGTGTGCACCCTCTGCTCTCAGGTGTAG
121918057	15105	NM_000374.4(UROD):c.842G>A (p.Gly281Glu)	UROD	Sep 08, 2016	MedGen:C0268323,OMIM:176100,SNOMED CT:59229005;MedGen:C0162569;MedGen:C0162566,Orphanet:ORPHA101330,SNOMED CT:61860000	Familial porphyria cutanea tarda;Hepatoerythropoietic porphyria;Porphyria cutanea tarda	germline	1	45014803	AGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGC
527236150	152919	NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	SCN4A	Mar 10, 2016	MedGen:C2750061,OMIM:613345;MedGen:CN517202	Hypokalemic periodic paralysis, type 2;not provided	germline	17	63947082	TCAAATCCCTGCGGACACTGCGGGCCCTGCGTCCCCTGAGGGCACTGTCCCGATTCGAGGG
587779143	96423	NM_000251.2(MSH2):c.2291G>A (p.Trp764Ter)	MSH2	Mar 19, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47478352	CTTCTACCTACGATGGATTTGGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGAT
141982812	21159	NM_001075098.3(MOCS1):c.418+1G>A	MOCS1	Apr 01, 1999	MedGen:C1854988,OMIM:252150,Orphanet:ORPHA308386	Molybdenum cofactor deficiency, complementation group A	germline	6	39925677	TTATCCGGCCGGACGTGGTGGACATTGTGGGTGAGTTGGACGAAAGTCATCGCCACTTCTC
587779446	106880	NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988108	CAGGGCCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGTAA
398123052	76348	NM_032957.4(RTEL1):c.1933G>A (p.Ala645Thr)	RTEL1	Apr 01, 2013	MedGen:C3808802	Dyskeratosis congenita, autosomal dominant, 4	germline	20	63689115	GCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAG
886041935	264521	NM_001844.4(COL2A1):c.1996-1G>A	COL2A1	Aug 23, 2016	MedGen:CN517202	not provided	germline	12	47983439	CTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGT
137852314	25406	NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na;MedGen:CN169374	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD MAHIDOL;not specified	germline	X	154534495	GGGGTAACGCAGCTCCGGGCTCCCAGCAGAGGCTGGAACCGCATCATCGTGGAGAAGCCCT
397515241	76261	NM_000548.4(TSC2):c.2113G>A (p.Val705Met)	TSC2	Jun 01, 2017	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2072256	CTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTG
587778838	132314	NM_000321.2(RB1):c.2490-1G>A	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48473359	TACTAATTGGTATTTCATCTTAACTTGACAGAATCTTAGTATCAATTGGTGAATCATTCGG
373697663	359828	NM_000048.3(ASL):c.578G>A (p.Arg193Gln)	ASL	Nov 11, 2016	MedGen:CN517202	not provided	germline	7	66086797	ACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGT
104886219	35944	NM_000495.4(COL4A5):c.3196G>A (p.Gly1066Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108626299	CCAGGATTACCTGGACAGAAAGGCGACAAAGGTGATCCTGGTATTTCAAGCATTGGTCTTC
1064793672	408412	NM_130799.2(MEN1):c.446-1G>A	MEN1	May 22, 2015	MedGen:CN517202	not provided	germline	11	64808100	GACCCTCTTTCATTACCTCCCCCTTCCACAGGCACCAAATTGGACAGCTCCGGTGTGGCCT
1057524476	367974	NM_006846.3(SPINK5):c.2667-1G>A	SPINK5	Jan 18, 2017	MedGen:CN517202	not provided	germline	5	148124764	TACCCTATCTTTTTTTTTAATTATTCTGCAGTGATCGAGAAGCTAATGAAAGAAAAAAGAA
-1	442723	NM_001791.3(CDC42):c.203G>A (p.Arg68Gln)	CDC42	Nov 01, 2017	MedGen:CN517202	not provided	de novo;germline	1	22086463	TTCTAGGGCAAGAGGATTATGACAGATTACGACCGCTGAGTTATCCACAAACAGATGTATT
794726861	190163	NM_006744.3(RBP4):c.223G>A (p.Ala75Thr)	RBP4	Apr 23, 2015	MedGen:C4225330,OMIM:616428	Microphthalmia, isolated, with coloboma 10	germline	10	93600692	GTGGACGAGACCGGCCAGATGAGCGCCACAGCCAAGGGCCGAGTCCGTCTTTTGAAGTCAG
768643552	223281	NM_015160.2(PMPCA):c.1066G>A (p.Gly356Ser)	PMPCA	Jan 22, 2016	Human Phenotype Ontology:HP:0001488,MedGen:C1865916;Human Phenotype Ontology:HP:0000618,MedGen:C0456909;Human Phenotype Ontology:HP:0004925,MedGen:C1839437;Human Phenotype Ontology:HP:0100275,MedGen:C1854699;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0002283,MedGen:C0241816;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;Human Phenotype Ontology:HP:0002791,MedGen:C3203358;Human Phenotype Ontology:HP:0008947,MedGen:C1860834;Human Phenotype Ontology:HP:0002343,MedGen:C0020258,OMIM:236690,Orphanet:ORPHA314928,SNOMED CT:30753002;Human Phenotype Ontology:HP:0000648,MedGen:C0029124;Human Phenotype Ontology:HP:0007936,MedGen:C2675435;Human Phenotype Ontology:HP:0011344,MedGen:C1854919	Bilateral ptosis;Blindness;Chronic lactic acidosis;Diffuse cerebellar atrophy;Failure to thrive;Global brain atrophy;Hypertrophic cardiomyopathy;Hypoventilation;Infantile muscular hypotonia;Normal pressure hydrocephalus;Optic atrophy;Restrictive external ophthalmoplegia;Severe global developmental delay	germline	9	136418630	GGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCA
886039897	260843	NM_019023.2(PRMT7):c.1276-1G>A	PRMT7	Oct 17, 2016	MedGen:C4310689,OMIM:617157,Orphanet:ORPHA464288	Short stature, brachydactyly, intellectual developmental disability, and seizures	germline	16	68347630	CTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCT
281865096	33862	NM_032383.4(HPS3):c.2888-1612G>A	CP;HPS3	Oct 11, 2012	MedGen:C3888001,OMIM:614072	Hermansky-Pudlak syndrome 3	not provided	3	149170483	TGCATCATTGTATTTTAGCTTAATTTTCACGGGAACTGTGGAAGCTAGCAGACAGTACCAC
587779480	106920	NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189006991	CCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTG
387907231	44208	NM_004625.3(WNT7A):c.610G>A (p.Gly204Ser)	WNT7A	Mar 15, 2016	MedGen:C1848651,OMIM:276820;MedGen:CN517202	Ulna and fibula absence of with severe limb deficiency;not provided	germline	3	13819384	GAGAACATGAAGCTGGAATGTAAGTGCCACGGCGTGTCAGGCTCGTGCACCACCAAGACGT
397507546	49031	NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu)	PTPN11	Jan 25, 2017	MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Rasopathy;not provided	germline	12	112489084	CCATCCAGATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGATT
121434610	26663	NM_004595.4(SMS):c.166G>A (p.Gly56Ser)	SMS	Nov 30, 2015	MeSH:D030342,MedGen:C0950123;MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063;MedGen:CN517202	Inborn genetic diseases;Snyder Robinson syndrome;not provided	germline	X	21967312	GGCTATTTAGCAACCTACACAAACAAGAACGGCAGGTGAGCAGTCTCCAGTGCTGTTCTTC
1131692320	424568	NM_000088.3(COL1A1):c.3443G>A (p.Gly1148Asp)	COL1A1	Nov 16, 2016	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	unknown	17	50187103	CCCCACTCCAGGGTCCCCCTGGCTCTGCTGGTGCTCCTGGCAAAGATGGACTCAACGGTCT
-1	442454	NM_000166.5(GJB1):c.622G>A (p.Glu208Lys)	GJB1	Jan 30, 2017	MedGen:CN517202	not provided	germline	X	71224329	TCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTG
121917850	24179	NM_000370.3(TTPA):c.575G>A (p.Arg192His)	TTPA	Jun 27, 2013	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96;MedGen:C4016662	Ataxia with vitamin E deficiency;Ataxia, Friedreich-like, with isolated vitamin E deficiency	germline	8	63064294	TTCAAAAGGATTCATTTCCATTGAAAGTTCGTGGCATCCATTTGATAAATGAACCAGTAAT
587777310	132587	NM_003165.3(STXBP1):c.847G>A (p.Glu283Lys)	STXBP1	Jun 19, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 4;not provided	germline	9	127668132	GAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCC
863225037	213796	NM_001165963.1(SCN1A):c.5436G>A (p.Trp1812Ter)	SCN1A	Nov 25, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	germline	2	165991839	GGATGACTTTGAGATGTTCTATGAGGTTTGGGAGAAGTTTGATCCCGATGCAACTCAGTTC
118192151	76896	NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln)	RYR1	Jan 06, 2017	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	germline;unknown	19	38584974	GTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAGATCGA
104886091	25502	NM_000495.4(COL4A5):c.974G>A (p.Gly325Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	germline	X	108582921	CTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGTAAGAATTTTAAT
281864980	47638	NM_024312.4(GNPTAB):c.1514G>A (p.Cys505Tyr)	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	not provided	12	101766189	TTGGTGGAGGAATAAACAGTGTCTCTTACTGTAATCAGGGATGTGCGAATTCCTGGCTCGC
1057518738	359075	NM_012186.2(FOXE3):c.307G>A (p.Glu103Lys)	FOXE3	Jan 06, 2018	Gene:100302720,MedGen:C2751822,OMIM:612968	Cataract 34, multiple types	germline	1	47416622	ACGCTGGCCGCCATCTACCGCTTCATCACCGAACGCTTTGCCTTCTACCGCGACAGCCCGC
111033404	52341	NM_000260.3(MYO7A):c.2094+1G>A	MYO7A	Dec 23, 2010	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77174915	CTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGG
121918308	20427	NM_015713.4(RRM2B):c.580G>A (p.Glu194Lys)	RRM2B	Apr 17, 2014	MedGen:C2749861,OMIM:612075,Orphanet:ORPHA255235;MedGen:CN187502	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;RRM2B-related mitochondrial disease	germline	8	102218918	GGGGAAAGAGTGGTGGCCTTTGCTGCTGTAGAAGGAGTTTTCTTCTCAGGATCTTTTGCTG
886042106	265416	NM_004006.2(DMD):c.31+36947G>A	DMD	Sep 15, 2015	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	33174335	AAAATTACTCTTTCTCTTCCTTGGTTTTGCGGCTTCTCGAGTTCATAGGAGACTTTCAGTT
786205245	15591	NM_000140.3(FECH):c.1077+1G>A	FECH	May 01, 1993	MedGen:C0162568,OMIM:177000,Orphanet:ORPHA79278,SNOMED CT:51022005	Erythropoietic protoporphyria	germline	18	57554259	ATCGAGTACTCTCAAGTTTTAGCCAAGGAGGTAAATGCACCCATCTGCCTTTTTCCCATCA
762913101	361783	NM_016011.4(MECR):c.695G>A (p.Gly232Glu)	MECR	Aug 09, 2017	MedGen:C4310634,OMIM:617282;MedGen:CN517202	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities;not provided	germline	1	29202004	AGAAGCTGAGTGACAGACTGAAGAGTCTGGGGGCTGAGCATGTCATCACAGAAGAGGAGCT
121908033	18765	NM_000527.4(LDLR):c.523G>A (p.Asp175Asn)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105429	TGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTA
104886240	35983	NM_000495.4(COL4A5):c.3535G>A (p.Gly1179Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108666576	CCCGGTCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGTAGTTT
-1	443943	NM_001069.2(TUBB2A):c.580G>A (p.Glu194Lys)	TUBB2A	Sep 19, 2017	MedGen:CN517202	not provided	germline	6	3154621	AACGCCACCCTCTCTGTCCACCAGCTGGTGGAAAACACAGATGAAACCTACTCCATTGATA
80338899	26912	NM_000137.2(FAH):c.786G>A (p.Trp262Ter)	FAH	Dec 21, 2015	MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006	Tyrosinemia type I	germline;unknown	15	80173093	GAAGAGTTTTGGGACCACTGTCTCTCCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTT
730880305	19917	NM_000197.1(HSD17B3):c.607-1G>A	HSD17B3	Feb 01, 1998	MedGen:C0268296,OMIM:264300,Orphanet:ORPHA752,SNOMED CT:50658006	Testosterone 17-beta-dehydrogenase deficiency	germline	9	96244395	GGGCCTCAGGTGTCTCTCCTTCTTGCTCCAGGCGTTTGTGTGCGCATTTTCCAAGGCCCTG
397516072	51960	NM_000256.3(MYBPC3):c.772+1G>A	MYBPC3	Jun 27, 2017	MedGen:CN230736;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Cardiovascular phenotype;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy	germline	11	47348423	ACTGCTCCAACTTCAATCTCACTGTCCACGGTGAGGGGGCCCTGGTGTCTGTCCTGGGCTC
137853157	23791	NM_000338.2(SLC12A1):c.1942G>A (p.Asp648Asn)	SLC12A1	Jun 01, 1996	MedGen:C1866495,OMIM:601678	Bartter syndrome, type 1, antenatal	germline	15	48251770	CTTTACGTCTATGTGACTTGTAAGAAGCCAGGTAAGATAATGACTGTCTGGAATAGCGTTT
267607148	33473	NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys)	TRPV4	Apr 02, 2014	MedGen:C0027868,Orphanet:ORPHA68381;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008;MedGen:C0265280,OMIM:184252,Orphanet:ORPHA93314	Neuromuscular Diseases;Skeletal dysplasia;Spondylometaphyseal dysplasia, Kozlowski type	germline	12	109800639	GCCCGTGGGCGCTTCTTCCAGCCCAAGGATGAGGGGGGCTACTTCTACTTTGGTAAGGAGG
121908136	19461	NM_031475.2(ESPN):c.2321G>A (p.Arg774Gln)	ESPN	Feb 01, 2006	MedGen:CN068820	Deafness, without vestibular involvement, autosomal dominant	germline	1	6452092	TGAAGATGCAGGAGGAGGAGGAGCAGAGGCGGAAGGTGGGTGGGGCGGGGTGCCCAGGGAG
587779770	132661	NM_001101.4(ACTB):c.220G>A (p.Gly74Ser)	ACTB	May 03, 2016	MedGen:C1855722,OMIM:243310,OMIM:608578,Orphanet:ORPHA2995;MedGen:CN517202	Baraitser-Winter syndrome 1;not provided	germline	7	5529304	ATCCTCACCCTGAAGTACCCCATCGAGCACGGCATCGTCACCAACTGGGACGACATGGAGA
794727569	194031	NM_017780.3(CHD7):c.6995G>A (p.Trp2332Ter)	CHD7	Jun 17, 2014	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60856033	ACATCTGTGAAGCAGTGTTGAAAGGCAAATGGCCAGTAAATAGGCGCCAGATGTTTGATTT
80356726	20275	NM_007375.3(TARDBP):c.943G>A (p.Ala315Thr)	TARDBP	Mar 12, 2015	MedGen:C2677565,OMIM:612069	Amyotrophic lateral sclerosis type 10	germline	1	11022352	AGTAATATGGGTGGTGGGATGAACTTTGGTGCGTTCAGCATTAATCCAGCCATGATGGCTG
151317754	267008	NM_001130987.1(DYSF):c.2409+1G>A	DYSF	Aug 17, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71561945	CTCCTGCGTCTGCGTGCCCTGGCAGAGGAGGTAATTAAGCCTGGGGGTGCCTTTCTTCTTC
1131691176	421052	NM_004329.2(BMPR1A):c.458G>A (p.Trp153Ter)	BMPR1A	Feb 15, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	10	86900054	CAGGTCCGTTTTTTGATGGCAGCATTCGATGGCTGGTTTTGCTCATTTCTATGGCTGTCTG
28940270	17896	NM_173076.2(ABCA12):c.4541G>A (p.Arg1514His)	ABCA12	Sep 15, 2003	MedGen:C1832550,OMIM:601277	Autosomal recessive congenital ichthyosis 4A	germline	2	214982225	AACCATCTACTGGAGTTGACCCATGTTCTCGCCGAAGTATATGGGATGTTATATCCAAGAA
752513525	136391	NM_015965.6(NDUFA13):c.170G>A (p.Arg57His)	NDUFA13	Feb 13, 2018	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	biparental;germline	19	19526257	ACTGGAGCATAATGAAGTGGAACCGTGAGCGCAGGTAGGGCCCCTGGTGGGCGTTGTCTGA
786205005	187405	NM_005249.4(FOXG1):c.577G>A (p.Ala193Thr)	FOXG1	Jun 19, 2017	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	de novo;germline	14	28767856	CCGTTCAGCTACAACGCGCTCATCATGATGGCCATCCGGCAGAGCCCCGAGAAGCGGCTCA
74315507	22614	NM_002872.4(RAC2):c.169G>A (p.Asp57Asn)	RAC2	Sep 01, 2000	MedGen:C1842398,OMIM:608203,Orphanet:ORPHA183707	Neutrophil immunodeficiency syndrome	germline	22	37232857	GACAGCAAGCCAGTGAACCTGGGGCTGTGGGACACTGCTGGGCAGGAGGACTACGACCGTC
1085307707	415118	NM_000089.3(COL1A2):c.2891G>A (p.Gly964Asp)	COL1A2	Apr 11, 2017	MedGen:CN517202	not provided	germline	7	94425805	TTGGTCCCGTTGGTGCTGCAGGTGCACCTGGTCCTCATGGCCCCGTGGGTCCTGCTGGCAA
587777256	130983	NM_001080442.2(SLC38A8):c.1234G>A (p.Gly412Arg)	SLC38A8	Dec 05, 2013	na	FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING	germline	16	84009858	TCACTTGGCAGGTGCTGCCTGGAGGTCTGGGGAGTGGTCTCTGTGCTGGTCGGCACCTTCA
118203885	24612	m.583G>A	MT-TF	Oct 01, 1998	MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED CT:39925003	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	germline	MT	583	CAAACCCCAAAGACACCCCCCACAGTTTATGTAGCTTACCTCCTCAAAGCAATACACTGAA
28936415	22745	NM_000303.2(PMM2):c.422G>A (p.Arg141His)	PMM2	Oct 16, 2017	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002;MedGen:C0282577,Orphanet:ORPHA137,SNOMED CT:238049009;MedGen:CN517202	Carbohydrate-deficient glycoprotein syndrome type I;Congenital disorder of glycosylation;not provided	germline;inherited;unknown	16	8811153	CTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACG
369982920	214899	NM_000282.3(PCCA):c.2040G>A (p.Ala680=)	PCCA	Jan 01, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100515567	GGTGGCCGTCTCTGTCAAGCCTGGAGACGCGGTAAGGGCTGTGTGTGTCTCTCTGCAGGAC
-1	430203	NM_000540.2(RYR1):c.6127+1G>A	RYR1	Sep 25, 2015	MedGen:CN517202	not provided	germline	19	38490733	ACTTTCATCAAGACCTGCTGGCACACTGTGGTAAGGAGTGGGGATCAGAGAGTCCTCCCCA
-1	473983	NM_000038.5(APC):c.7512G>A (p.Trp2504Ter)	APC	Jan 29, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	112843106	CACACATTCGTCTGTTCAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCCCACT
387906610	38599	NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn)	COL6A2	Sep 23, 2015	na;MedGen:CN029274,OMIM:158810	BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;Bethlem myopathy 1	germline	21	46132103	CGGCGGCTGACGCTGGCCCGGAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTGC
80338748	24493	NM_004525.2(LRP2):c.8452+1G>A	LRP2	Jun 28, 2011	MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143	Donnai Barrow syndrome	germline	2	169201627	ATAATAACACTTCAGATGAGAAAAATTGCCGTAAGTTTATCTTAAGTGCTTATTGTGATTT
121912616	16458	NM_001041.3(SI):c.3218G>A (p.Gly1073Asp)	SI	Jun 14, 2016	MedGen:C1283620,OMIM:222900,Orphanet:ORPHA35122,SNOMED CT:360854006,SNOMED CT:78373000	Sucrase-isomaltase deficiency	germline;maternal	3	165021265	ATGATGTGGAAATCAAGGAAAATCCTTTTGGCATCCAGATTCGACGGAGAAGCAGTGGAAG
387907218	44181	NM_000116.4(TAZ):c.718G>A (p.Gly240Arg)	TAZ	Mar 27, 2017	MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED CT:297231002;MedGen:CN517202	3-Methylglutaconic aciduria type 2;not provided	germline	X	154420676	GCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCG
587779482	106922	NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008125	ATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGGTAAGACATCACT
121908698	133532	NM_007194.3(CHEK2):c.444+1G>A	CHEK2	Aug 18, 2017	MedGen:C1858433;MedGen:CN068448;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast and colorectal cancer, susceptibility to;Breast cancer, susceptibility to;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	22	28725242	TACAGCAAGAAACACTTTCGGATTTTCAGGGTAGGTAATGAATACCCATGTATCTAGGAGA
267606843	22672	NM_198407.2(GHSR):c.6G>A (p.Trp2Ter)	GHSR	Nov 01, 2009	MedGen:C1858656,OMIM:604271,OMIM:615925	Short stature, idiopathic, autosomal	germline	3	172448408	GAGCCTGTTCAGCTGAGCCGGCAGCATGTGGAACGCGACGCCCAGCGAAGAGCCGGGGTTC
869312888	226686	NM_139276.2(STAT3):c.1261G>A (p.Gly421Arg)	STAT3	Apr 11, 2017	MedGen:C4014795,OMIM:615952,Orphanet:ORPHA438159;MedGen:CN517202	Autoimmune disease, multisystem, infantile-onset, 1;not provided	germline;inherited	17	42329430	CAGACCCTGAGGGAGCAGAGATGTGGGAATGGGGGCCGAGCCAATTGTGATGTAAGTTTTG
730880542	179312	NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter)	MYBPC3	Jul 31, 2017	MedGen:CN517202	not provided	germline	11	47342830	AAGTATCGGAGGAGGGGGCGCAAGTCAAATGGTGAGTTCCAGAAGCACGGGGCATGGGTGT
72659319	213576	NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser)	COL1A2	Nov 05, 2013	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004;MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta type III;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta, recessive perinatal lethal	unknown	7	94426459	CAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAAAGGGGCCCAGAGGTCTTCCTGGCT
386134141	51321	NM_000096.3(CP):c.2879-1G>A	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149177980	AAAGTAACATAAAACCATATGCTTTCCCTAGCTATTAATGGAAGAATGTTTGGAAACCTAC
121918754	79501	NM_006920.4(SCN1A):c.2902G>A (p.Gly968Arg)	SCN1A	Aug 01, 2017	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline	2	166037787	CTTACTGTCTTCATGATGGTCATGGTGATTGGAAACCTAGTGGTATGTACCCACTTAAGAT
72651646	32349	NM_000088.3(COL1A1):c.2156G>A (p.Gly719Asp)	COL1A1	Jun 01, 1991	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50191462	AGGGTGATGCTGGTGCCCCTGGAGCTCCCGGTAGCCAGGGCGCCCCTGGCCTTCAGGGAAT
180177189	200462	NM_000030.2(AGXT):c.283G>A (p.Glu95Lys)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240869287	GCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCA
386134223	36760	NM_003060.3(SLC22A5):c.1412G>A (p.Arg471His)	SLC22A5	May 11, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline	5	132392577	TGGGTGTGGGAGTCAGCTCCACAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTTCGT
111812550	447828	NM_001100.3(ACTA1):c.616+1G>A	ACTA1	Mar 02, 2017	MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904	Nemaline myopathy 3	germline	1	229432269	CTGAGCGTGGCTACTCCTTCGTGACCACAGGTGCGCGGCGCCCCTGCACCCCGGGCGGGAG
372210292	270286	NM_000023.3(SGCA):c.409G>A (p.Glu137Lys)	SGCA	Sep 30, 2016	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline	17	50168397	TTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGG
-1	482123	NM_000267.3(NF1):c.2002-1G>A	NF1	Dec 27, 2017	MedGen:CN517202	not provided	germline	17	31226434	CAAATATATGTCTTCCACCCTTGACTCTCAGGATAGTGCAGCAGGATGCAGCGGAACCCCC
879253744	243961	NM_018076.4(ARMC4):c.2495+1G>A	ARMC4	Apr 03, 2013	MedGen:C3809548,OMIM:615451	Primary ciliary dyskinesia 23	germline	10	27935009	TGCTTGTGCAGTAGAACCTGAAAGTATGATGTAAGTGGCCCTGGAGATGGAAAGATTTTAT
587780345	134590	NM_000162.3(GCK):c.544G>A (p.Val182Met)	GCK	Jul 27, 2017	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006;Human Phenotype Ontology:HP:0009800,MedGen:C0085207;MedGen:C1841962,OMIM:125851;MedGen:CN517202	Diabetes mellitus type 2;Diabetes mellitus, gestational;Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44150004	AAGGCCTCAGGAGCAGAAGGGAACAATGTCGTGGGGCTTCTGCGAGACGCTATCAAACGGA
775925162	353979	NM_172107.3(KCNQ2):c.1641G>A (p.Arg547=)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63413572	GCCCCACCCACCCCCCTGCAGTGTCATGCGGTTCCTGGTGTCCAAGCGGAAGTTCAAGGAG
121918566	28215	NM_000322.4(PRPH2):c.947G>A (p.Trp316Ter)	PRPH2	Jan 01, 1997	MedGen:C1842914,OMIM:608161,Orphanet:ORPHA99000;MedGen:CN517202	Macular dystrophy, vitelliform, adult-onset;not provided	germline	6	42698389	GGCTGCTGGAGAGGAGCGTGCCGGAGACCTGGAAGGCCTTTCTGGAGAGTGTGAAGAAGCT
121913378	53982	NM_004333.4(BRAF):c.1798G>A (p.Val600Met)	BRAF	Jul 14, 2015	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007	Malignant melanoma;Non-small cell lung cancer	somatic	7	140753337	GTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATGGAGTGGGTCCCATCAGT
786204280	186452	NM_000059.3(BRCA2):c.7008-1G>A	BRCA2	Aug 17, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32354860	AATAAACTTATATATTTTCTCCCCATTGCAGCACAACTAAGGAACGTCAAGAGATACAGAA
121908755	22155	NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN236562	Cystic fibrosis;ivacaftor response - Efficacy	germline;unknown	7	117587800	TAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGC
-1	482171	NM_015559.2(SETBP1):c.821G>A (p.Trp274Ter)	SETBP1	Nov 14, 2017	MedGen:CN517202	not provided	germline	18	44950161	AGGGTAAGAAAGGCAGTGCAGGGAACACGTGGAGTCAGTTGTCTAACAATAACAAAGATCT
387906960	39591	NM_021939.3(FKBP10):c.344G>A (p.Arg115Gln)	FKBP10	Jan 01, 2013	Gene:50963,MedGen:C1850168,OMIM:259450	Bruck syndrome 1	germline	17	41817156	GCCTCATGGGCATGTGTGTCAACGAGCGGCGACGCCTCATTGTGCCTCCCCACCTGGGCTA
1085308042	416935	NM_000314.6(PTEN):c.131G>A (p.Gly44Asp)	PTEN	Mar 01, 2017	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498	PTEN hamartoma tumor syndrome	unknown	10	87894076	CTATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGT
386134171	51295	NM_002739.4(PRKCG):c.1078G>A (p.Gly360Ser)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	not provided	19	53898097	GACTTCAGCTTCCTCATGGTTCTAGGAAAAGGCAGTTTTGGGAAGGTTGGATTCCTGGGGT
121912981	31902	NM_000031.5(ALAD):c.823G>A (p.Val275Met)	ALAD	Jul 01, 1991	MedGen:C0268328,OMIM:612740,Orphanet:ORPHA95157,SNOMED CT:64081000	Porphobilinogen synthase deficiency	germline	9	113389085	TCCCTGCAGCACCCTGACCTCCCTCTCGCCGTGTACCACGTCTCTGGAGAGTTTGCCATGC
886043170	269902	NM_001130987.1(DYSF):c.5004-1G>A	DYSF	Jan 14, 2016	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:C1847532,OMIM:606768,Orphanet:ORPHA178400	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;Myopathy, distal, with anterior tibial onset	germline	2	71664267	GGCTGACATCGGGAATCTGCCCCTCCTGCAGGATGTTCGAGCTGACCTGCACTCTGCCTCT
80338944	32040	NM_004004.5(GJB2):c.231G>A (p.Trp77Ter)	GJB2	Aug 13, 2014	MedGen:C2673759,OMIM:220290;MedGen:CN043648,Orphanet:ORPHA87884	Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness	germline	13	20189351	CTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGTCCACGCCA
80358043	262992	NM_007294.3(BRCA1):c.134+1G>A	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43115725	CTCCACAAAGTGTGACCACATATTTTGCAAGTAAGTTTGAATGTGTTATGTGGCTCCATTA
72552727	21450	NM_003060.3(SLC22A5):c.396G>A (p.Trp132Ter)	SLC22A5	Jun 22, 2014	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline;unknown	5	132378380	TGATACACCCCCTTTGCTCATCTTGCAGTGGAACCTGGTGTGTGAGGACGACTGGAAGGCC
587784469	169445	NM_001083962.1(TCF4):c.990G>A (p.Ser330=)	TCF4	Aug 01, 2017	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;MedGen:CN517202	Pitt-Hopkins syndrome;not provided	de novo;germline	18	55261466	TGGAGATGCTCTGGGGAAAGCACTTGCTTCGGTGAGGAAATATTGACTTTGGACTCCATAT
121908042	228132	NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr)	LDLR	Sep 12, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline	19	11105232	GCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGG
121912736	32837	NM_170665.3(ATP2A2):c.2305G>A (p.Gly769Arg)	ATP2A2	Dec 20, 2016	MedGen:C1852297;MedGen:CN517202	Darier disease, segmental;not provided	germline	12	110342435	TTCATCCGCTACCTCATCTCGTCCAACGTCGGGGAAGTTGTCTGGTAGGTCTCTGTGACAG
1057522040	378480	NM_006306.3(SMC1A):c.1504G>A (p.Glu502Lys)	SMC1A	Jun 28, 2017	MedGen:CN517202	not provided	germline	X	53409103	CAGGAGAGCAGCCGCCAGCAGCGAAAGGCAGAGATAATGGAAAGCATCAAGCGCCTTTACC
199971687	216058	NM_052845.3(MMAB):c.291-1G>A	MMAB	Jan 07, 2016	MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311	Methylmalonic aciduria cblB type	germline	12	109565177	CAGGCAAATTCTTTTTCCTTTTTCTTCATAGGTTTGCTCTGGAATTAGTCACAGAAAAGGG
794726742	187815	NM_001165963.1(SCN1A):c.2213G>A (p.Trp738Ter)	SCN1A	Jan 11, 2018	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166041433	AAGAATCCAGGCAGAAATGCCCACCCTGTTGGTATAAATTTTCCAACATATTCTTAATCTG
779082302	260016	NM_004572.3(PKP2):c.1511-1G>A	PKP2	Aug 23, 2016	MedGen:CN517202	not provided	germline	12	32841206	CTGTTTTCATGGTAACTCTGTGCTTTTCTAGGTTTGCTGTGGAATTTGTCATCTAATGACA
-1	440142	NM_001080463.1(DYNC2H1):c.4553G>A (p.Cys1518Tyr)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	11	103163089	AGAAAACTTTGGAACAGTTGTTGAAGGAATGTGTTACTACTGGGCGAAGTTCTCAAGGTGC
397507389	46666	NM_000059.3(BRCA2):c.7618-1G>A	BRCA2	Sep 19, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	13	32357741	TTTCTTTTTTGTGTGTGTTTATTTTGTGTAGCTGTATACGTATGGCGTTTCTAAACATTGC
990457690	468162	NM_000080.3(CHRNE):c.-95G>A	CHRNE	Jun 13, 2017	Gene:8144,MedGen:C1853949,OMIM:605809	Myasthenic syndrome, congenital, 4a, slow-channel	germline	17	4903158	GAGGATTAGGTGACAGTCCCCTAACAGCCCGGAACTAACACCCTCCTCCCCCTCACACAGG
386833651	70838	NM_000310.3(PPT1):c.536+1G>A	PPT1	Jul 23, 2009	MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329;MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,SNOMED CT:42012007	Ceroid lipofuscinosis neuronal 1;Neuronal ceroid lipofuscinosis	germline	1	40089409	TGGGGCGTACTCCAAAGTTGTTCAGGAACGGTATGTATGGTTAGCTGAAAAGATTACAGAC
121918353	22665	NM_000214.2(JAG1):c.701G>A (p.Cys234Tyr)	JAG1	Jul 01, 2002	MedGen:C1866053	Deafness, congenital heart defects, and posterior embryotoxon	germline	20	10656452	CACGCCCTTCTCTGTTTTTTACAGCTATTTGCCGACAAGGCTGCAGTCCTAAGCATGGGTC
201951824	198631	NM_001082971.1(DDC):c.1040G>A (p.Arg347Gln)	DDC	Aug 28, 2013	MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004	Deficiency of aromatic-L-amino-acid decarboxylase	unknown	7	50476625	TCTTTTCTCCAGGGCTTATCACTGACTACCGGGTAAGTGGGAGATTCCACTGTAATCTCAA
1085307792	414915	NM_005677.3(COLQ):c.393+1G>A	COLQ	Apr 05, 2017	MedGen:CN517202	not provided	germline	3	15478976	TAGGGGGAGCTTGGCCGACCAGGAAGGAAGGTATGGTCTGCGCTGTTCTGTGAGTGTCACA
201568579	177044	NM_000033.3(ABCD1):c.1661G>A (p.Arg554His)	ABCD1	Dec 13, 2016	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002;MedGen:CN517202	Adrenoleukodystrophy;not provided	germline	X	153740600	ACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGA
-1	482076	NM_001145358.1(SIN3A):c.2675G>A (p.Trp892Ter)	SIN3A	Dec 19, 2017	MedGen:CN517202	not provided	germline	15	75392418	TATACAACCTCTTCTATGTCAACAACAACTGGTATATTTTTATGCGACTGCACCAGATTCT
878854342	23750	NG_011708.1:g.11963G>A	FANCE	Nov 01, 2000	MedGen:C3160739,OMIM:600901	Fanconi anemia, complementation group E	germline	6	35459323	AAGAAAATAATTAATTTTTTCCTCCCTGTTGGCTGTAGATCCTCTCCTTGACTTCCTCAGC
121913068	31567	NM_000129.3(F13A1):c.1504G>A (p.Gly502Arg)	F13A1	May 01, 1995	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6174823	AGATTGGCCCTAGAAACTGCCCTGATGTACGGAGCTAAAAAGCCCCTCAACACAGAAGGTG
281865496	47597	NM_004614.4(TK2):c.575G>A (p.Arg192Lys)	TK2	May 18, 2017	MedGen:C3149750,OMIM:609560;MedGen:CN517202	Mitochondrial DNA depletion syndrome 2;not provided	germline	16	66517179	TTCGGACCAATCCTGAGACTTGTTACCAGAGGTTAAAGAAGAGATGCAGGGAAGAGGAGAA
886041535	264414	NM_203447.3(DOCK8):c.2606-1G>A	DOCK8	Dec 20, 2016	MedGen:CN517202	not provided	germline	9	382512	TGTTGACATGTCTCTGCCTGGTGGGGTGCAGGCGCTCCCACTGCCCTCCTAGACCCTCGGA
137852525	25037	NM_000425.4(L1CAM):c.2254G>A (p.Val752Met)	L1CAM	Feb 15, 2002	MedGen:C4017784	Hydrocephalus, X-linked, with hirschsprung disease	germline	X	153866826	GACTGGAACGCCCCCCAGGTTCAGTACCGCGTGCAGTGGCGCCCTCAGGGGACACGAGGGC
794728595	196481	NM_170707.3(LMNA):c.1560G>A (p.Trp520Ter)	LMNA	May 25, 2016	MedGen:CN517202	not provided	germline	1	156137184	CGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTC
267607004	15310	NM_001134363.2(RBM20):c.1907G>A (p.Arg636His)	RBM20	Sep 26, 2017	MedGen:C2750995,OMIM:613172;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1DD;Primary dilated cardiomyopathy;not provided	germline;unknown	10	110812304	ACAGATATGGCCCAGAAAGGCCGCGGTCTCGTAGTCCGGTGAGCCGGTCACTCTCCCCGAG
121434278	18633	NM_000016.5(ACADM):c.583G>A (p.Gly195Arg)	ACADM	Jul 14, 2017	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline;unknown	1	75740094	ATTAATGGTCAGAAGATGTGGATAACCAACGGAGGAAAAGCTAATTGGTATGTTGTTCAAA
-1	429845	NM_001077418.2(TMEM231):c.438+1G>A	TMEM231	Jan 06, 2016	MedGen:C3809352,OMIM:615397	Meckel syndrome, type 11	germline	16	75545825	CTCATCCTGACTTTCTCCTATCGATTACACGTGAGTCAGTCCGCTGGGAGGCTGTCCTCTC
387906955	39578	NM_000153.3(GALC):c.121G>A (p.Gly41Ser)	GALC	Nov 01, 2011	MedGen:C0023521,OMIM:245200,Orphanet:ORPHA487,SNOMED CT:192782005	Galactosylceramide beta-galactosidase deficiency	germline	14	87993044	TTGCTGCTGTGTGCGCTGCTGGCGCCCGGCGGCGCGTACGTGCTCGACGACTCCGACGGGC
1060501135	393562	NM_198056.2(SCN5A):c.2933G>A (p.Trp978Ter)	SCN5A	Apr 05, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005	Brugada syndrome	germline	3	38581226	GGGGCCTGCGCTTTGTCAAGCGGACCACCTGGGATTTCTGCTGTGGTCTCCTGCGGCAGCG
797044508	178080	NM_001042537.1(SLC9A6):c.604-1G>A	SLC9A6	Mar 07, 2014	MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278	Christianson syndrome	germline	X	135998481	TCTAACAGTGTAACTTTTTTTTTTTTGTCAGAGACATTTTTTTCGAAATCTTGGGTCTATC
483352916	94412	NM_001110.3(ADAM10):c.1571G>A (p.Cys524Tyr)	ADAM10	Sep 01, 2013	MedGen:C0406811,OMIM:615537,Orphanet:ORPHA178307,SNOMED CT:239133004	Reticulate acropigmentation of Kitamura	germline	15	58611932	AGTGTGCATTCAAGTCAAAGTCTGAGAAGTGTCGGGATGATTCAGACTGTGCAAGGGAAGG
747753388	211317	NM_022445.3(TPK1):c.185+1G>A	TPK1	Sep 17, 2013	MedGen:CN517202	not provided	germline	7	144682908	ATATGATATCACCGAAGGAGAGAGAGAAAGGTATGCTTTCTTTTAGTCAATGTGCATAGTA
104886080	35681	NM_000495.4(COL4A5):c.892G>A (p.Gly298Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108580983	GTTGCCCTATCATTTCTTTGTATCCTATAGGGTAAACCAGGCAAAGATGGAGAAAATGGCC
121434542	32678	NM_001793.5(CDH3):c.1508G>A (p.Arg503His)	CDH3	Nov 01, 2002	MedGen:C1832162,OMIM:601553,Orphanet:ORPHA1573	Juvenile macular degeneration and hypotrichosis	germline	16	68685288	GGCAGGTCACAGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGAGGAACAACAT
587779466	106903	NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003421	TTTCCTTCCATTTCATATAGGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAG
886037823	260501	NM_001711.5(BGN):c.5G>A (p.Trp2Ter)	BGN	May 10, 2017	MedGen:C4310811,OMIM:300989;MedGen:CN118826,Orphanet:ORPHA91387	Meester-loeys syndrome;Thoracic aortic aneurysm and aortic dissection	germline;maternal	X	153504636	CGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGC
587781337	150588	NM_001128425.1(MUTYH):c.1186+1G>A	MUTYH	Oct 12, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798	Hereditary cancer-predisposing syndrome;MYH-associated polyposis	germline	1	45331660	AAATTCTGCTGGTGCAGAGGCCCAACTCAGGTACCTGGATACTGGGCGTGGAGGGCAGTGG
-1	481818	NM_006749.4(SLC20A2):c.1604G>A (p.Trp535Ter)	SLC20A2	Nov 21, 2017	MedGen:CN517202	not provided	germline	8	42430169	GGGTAACGCAAGAAGCAGCTACACCCGTCTGGCTGCTGTTTTATGGAGGAGTTGGAATCTG
879255597	227107	NM_001144967.2(NEDD4L):c.2677G>A (p.Glu893Lys)	NEDD4L	Dec 29, 2016	MedGen:C4310669,OMIM:617201;MedGen:CN236338;MedGen:CN517202	Periventricular nodular heterotopia 7;Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay;not provided	de novo;germline;unknown	18	58390667	TGTTCATAGGCTGTGCTACTCATGGACGCCGAAAAGCGTATCCGGTTACTGCAGTTTGTCA
202094100	259714	NM_001256850.1(TTN):c.44490G>A (p.Trp14830Ter)	TTN	Aug 24, 2016	MedGen:CN517202	not provided	germline	2	178613870	TATCACTAAAGACGCAGTGACTCTCACATGGTGTGAGCCAGATGATGATGGTGGCAGCCCA
587778863	132351	NM_000321.2(RB1):c.1688G>A (p.Trp563Ter)	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48381436	GTGAACATCGAATCATGGAATCCCTTGCATGGCTCTCAGTAAGTAGCTAAATAATTGAAGA
397514428	36432	NM_000060.4(BTD):c.1610G>A (p.Gly537Glu)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645466	CCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCTTGTATGAGAGGGACTAGGAAAAGTG
431905503	24994	NM_000291.3(PGK1):c.756+5G>A	PGK1	Mar 28, 2006	MedGen:C1970848,OMIM:300653,Orphanet:ORPHA713	Phosphoglycerate kinase 1 deficiency	germline	X	78122954	TCCTTAAGGTGCTCAACAACATGGAGGTAGGAAACAAATGCCAAGTGGATGTGAAATAGCT
769370816	228176	NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11116125	TTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTG
147718607	48236	NM_144577.3(CCDC114):c.742G>A (p.Ala248Thr)	CCDC114	Aug 11, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;MedGen:C3540844,OMIM:615067;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Ciliary dyskinesia;Ciliary dyskinesia, primary, 20;Kartagener syndrome	germline	19	48303953	CCCGATGTCCTGGAGAAGCGTGAAAAGCAGGGTGAGGCTGGGGCTGCTGCCTTTGCATCTC
121912302	47543	NM_001363.4(DKC1):c.121G>A (p.Glu41Lys)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154765480	CAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTC
121909259	23352	NM_000388.3(CASR):c.889G>A (p.Glu297Lys)	CASR	Dec 31, 1993	MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:C1832615,OMIM:239200,Orphanet:ORPHA417	Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism	germline	3	122261924	AATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCCAGCTCCTCCCTGATCGCCA
128624219	26339	NM_000033.3(ABCD1):c.1202G>A (p.Arg401Gln)	ABCD1	Oct 01, 1994	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153736232	TCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCT
886039382	259775	NM_013334.3(GMPPB):c.260-1G>A	GMPPB	Aug 11, 2017	MedGen:CN517202	not provided	germline	3	49723115	AGCAAGGTGGTGACCTGTCCCCTTCCCCCAGCTGGGCCCCTGGCGCTGGCCCGTGACCTAC
121918483	28350	NM_000506.3(F2):c.1027G>A (p.Glu343Lys)	F2	Jan 01, 2000	MedGen:C0272317,SNOMED CT:33297000	Hereditary factor II deficiency disease	germline	11	46726734	TCTGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAAACCGAAA
-1	237520	NM_181486.2(TBX5):c.444G>A (p.Trp148Ter)	TBX5	Apr 25, 2016	Gene:431,MedGen:C1862389,OMIM:108800	Atrial septal defect 1	maternal	12	114398639	CCCAGACTCCCCCGCCACCGGGGCGCATTGGATGAGGCAGCTCGTCTCCTTCCAGAAACTC
794728682	198036	NM_000268.3(NF2):c.810+1G>A	NF2	Aug 15, 2016	MedGen:CN517202	not provided	germline	22	29661340	ATCCGAAACATCTCGTACAGTGACAAGGAGGTAGGACATGTGTGTACTGCAGATGGGTCCA
281874725	36033	NM_000495.4(COL4A5):c.3925-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108680678	TTTTGTAACATTAATGATTTTATTTATTCAGGGTAATCCTGGCCGGCCGGGTCTCAATGGA
80356509	34130	NM_001457.3(FLNB):c.1081G>A (p.Gly361Ser)	FLNB	Oct 09, 2008	MedGen:C1835564,OMIM:150250	Larsen syndrome, dominant type	not provided	3	58097911	CAGGGAGATGCCAGTAAAGTCACTGCAAAAGGTCCAGGGTTGGAAGCTGTAGGGAACATCG
864309515	215063	NM_183357.2(ADCY5):c.1253G>A (p.Arg418Gln)	ADCY5	Dec 17, 2015	MedGen:C1847627,OMIM:606703,Orphanet:ORPHA324588;MedGen:CN517202	Dyskinesia, familial, with facial myokymia;not provided	germline	3	123352463	TCCAGGAGACCCGAGAGTGCATCCAGGCGCGGCTCCACTCGCAGCGGGAGAACCAGCAGCA
28933081	29923	NM_002448.3(MSX1):c.365G>A (p.Gly122Glu)	MSX1	Jun 01, 2003	MedGen:C1837210,OMIM:608874	Orofacial cleft 5	germline	4	4860264	CGCGGCCGCTCGGCCATTTCTCGGTGGGGGGACTCCTCAAGCTGCCAGAAGATGCGCTCGT
72549320	31355	NM_001002294.2(FMO3):c.94G>A (p.Glu32Lys)	FMO3	Aug 01, 2003	Human Phenotype Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED CT:237959005	Trimethylaminuria	germline	1	171092752	CTGGAAGAGGGGCTGGAGCCCACCTGCTTTGAGAAGAGCAATGACATTGGGGGCCTGTGGA
104893948	406816	NM_000045.3(ARG1):c.703G>A (p.Gly235Arg)	ARG1	May 31, 2017	MedGen:CN517202	not provided	germline	6	131583392	AGGCCAATTCATCTAAGTTTTGATGTTGACGGACTGGACCCATCTTTCACACCAGCTACTG
63751279	426782	NM_001171.5(ABCC6):c.4441G>A (p.Gly1481Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150204	GTCATGGACAAGGGGCAGGTGGCAGAGAGCGGCAGCCCGGCCCAGCTGCTGGCCCAGAAGG
104894141	16828	NM_000102.3(CYP17A1):c.51G>A (p.Trp17Ter)	CYP17A1	Jan 01, 1998	MedGen:CN042980	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102837311	CTTGCTGCTTACCCTAGCTTATTTGTTTTGGCCCAAGAGAAGGTGCCCTGGTGCCAAGTAC
151340620	26835	NM_001127899.3(CLCN5):c.1047G>A (p.Trp349Ter)	CLCN5	Mar 01, 1997	MedGen:C1848336,OMIM:300009;MedGen:C1839874,OMIM:308990	Dent disease 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	germline	X	50086360	CAGCTACTATTTTCCCCTCAAAACATTGTGGCGTTCATTCTTTGCTGCCTTGGTGGCAGCA
121909179	22708	NM_000453.2(SLC5A5):c.1628G>A (p.Gly543Glu)	SLC5A5	Sep 01, 1998	MedGen:C1848805,OMIM:274400	Thyroid dyshormonogenesis 1	germline	19	17888432	CCCTGGGCACGCTGACCACTGTGCTGTGCGGAGCCCTCATCAGCTGCCTGACAGGTAGGTA
1057520680	370801	NM_139025.4(ADAMTS13):c.3044+1G>A	ADAMTS13	Apr 28, 2015	MedGen:CN517202	not provided	germline	9	133449966	GGCCTGCAGCCTGGAGCCCTGCCCACCTAGGTGAGTCAGCCGGTGATGGGAGGGGCAGCTC
200206736	32110	NM_172369.4(C1QC):c.100G>A (p.Gly34Arg)	C1QC	Apr 01, 1996	MedGen:C3150902,OMIM:613652	C1q deficiency	germline	1	22644123	CTCAGGGGCCAAGCCAACACAGGCTGCTACGGGATCCCAGGGATGCCCGGCCTGCCCGGGG
1060501669	397804	NM_000051.3(ATM):c.5249G>A (p.Trp1750Ter)	ATM	Jun 24, 2016	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005	Ataxia-telangiectasia syndrome	germline	11	108301719	TTTTAGCCACAAAGACTGGACATAGTTTCTGGGAGATTTATAAGATGACAACAGATCCAAT
-1	446741	NM_000206.2(IL2RG):c.846G>A (p.Trp282Ter)	IL2RG	Aug 17, 2017	MedGen:CN517202	not provided	germline	X	71108607	GATTATCAGCCTTCTCTGTGTGTATTTCTGGCTGGAACGGTGAGATTTGGAGAAGCCCAGA
121908529	38436	NM_000030.2(AGXT):c.508G>A (p.Gly170Arg)	AGXT	Aug 22, 2017	MedGen:C0020501,Orphanet:ORPHA416,SNOMED CT:17901006;MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001;MedGen:CN517202	Primary hyperoxaluria;Primary hyperoxaluria, type I;not provided	germline;unknown	2	240871433	ACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCC
35004220	30493	NM_000518.4(HBB):c.93-21G>A	HBB	Aug 12, 2017	MedGen:C0599528;MedGen:C3841475;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN169374	Beta thalassemia major;Beta-plus-thalassemia;beta Thalassemia;not specified	germline;unknown	11	5226820	TCTGATAGGCACTGACTCTCTCTGCCTATTGGTCTATTTTCCCACCCTTAGGCTGCTGGTG
28942075	18894	NM_000053.3(ATP7B):c.2293G>A (p.Asp765Asn)	ATP7B	Aug 01, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51958373	AAGGCGGAGAGGAGCCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTTGTGTTCATTG
1057519922	363345	NM_001313904.1(NFE2L2):c.6G>A (p.Lys2=)	NFE2L2	Oct 30, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:CN578218,OMIM:617744;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of lung;Hepatocellular carcinoma;IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	germline;somatic	2	177234082	GCCTTTTTCGCTCAGTTACAACTAGATGAAGAGACAGGTGAATTTCTCCCAATTCAGCCAG
763471771	195641	NM_002225.3(IVD):c.793+1G>A	IVD	Jul 23, 2014	MedGen:C0268575,OMIM:243500,Orphanet:ORPHA33,SNOMED CT:87827003	Isovaleryl-CoA dehydrogenase deficiency	germline	15	40413088	AGCTAATCTTTGAAGACTGCAAGATTCCTGGTAAGTAGCACCGGGAATCGGGGAGCCCCTC
104886245	36000	NM_000495.4(COL4A5):c.3613G>A (p.Gly1205Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668327	TAATTATACTTTACTTTCATAGGCCAAAAGGGTGATGGAGGATTACCTGGGATTCCAGGAA
794726677	39918	NM_032446.2(MEGF10):c.1559G>A (p.Trp520Ter)	MEGF10	Nov 20, 2011	MedGen:C3280679,OMIM:614399,Orphanet:ORPHA439212	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	germline	5	127420176	TGGACGGGACCTGCACGTGTGCACCTGGATGGCGCGGGGAGAAATGCGAACTTCCCTGCCA
370540673	189172	NM_015662.2(IFT172):c.1525-1G>A	IFT172	Jan 01, 2015	MedGen:C4225342,OMIM:616394	Retinitis pigmentosa 71	germline	2	27471096	TAATTGTGTTACCTGCCTTTTCTTTCTTCAGTTGCATCTGTATGATATTGAAAGCTGCTCT
121908085	19085	NM_000547.5(TPO):c.2395G>A (p.Glu799Lys)	TPO	Jun 14, 2016	Human Phenotype Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED CT:190268003;MedGen:C1291299,OMIM:274500,SNOMED CT:124204003	Congenital hypothyroidism;Deficiency of iodide peroxidase	germline	2	1503956	TGTGGCCTTGTGTGTCTGGCAGATGTGAACGAGTGTGCAGACGGTGCCCACCCCCCCTGCC
886039764	227576	NM_019597.4(HNRNPH2):c.617G>A (p.Arg206Gln)	HNRNPH2	Oct 07, 2016	MedGen:C4310814,OMIM:300986;MedGen:CN517202	Mental retardation, X-linked, syndromic, Bain type;not provided	germline	X	101412605	ATCCCCCTCGAAAGCTCATGGCTATGCAGCGGCCAGGTCCCTATGATAGGCCGGGGGCTGG
794727788	195297	NM_001849.3(COL6A2):c.812G>A (p.Gly271Asp)	COL6A2	Aug 05, 2014	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	46115882	ACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCA
794729271	199241	NM_001256850.1(TTN):c.47550G>A (p.Trp15850Ter)	TTN	Oct 31, 2013	MedGen:CN517202	not provided	germline	2	178608410	TGTTACCAGCAACAGTATGCTAGTGAAATGGAATGAACCAAAAGATAATGGAAGCCCCATT
755686699	415768	NM_000444.5(PHEX):c.1809G>A (p.Trp603Ter)	PHEX	Apr 04, 2017	MedGen:CN517202	not provided	germline	X	22221653	TGATAAAAATGGAAACCTGGATCCTTGGTGGTCTACTGAATCAGAAGAAAAGTTTAAGGAA
-1	439574	NM_000157.3(GBA):c.526G>A (p.Asp176Asn)	GBA	Apr 04, 2012	MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher's disease, type 1	germline	1	155238579	GACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATGATTTCCAGTTGCACAACT
753896285	237609	NM_005422.2(TECTA):c.2887G>A (p.Ala963Thr)	TECTA	Feb 19, 2016	MedGen:C1832187,OMIM:601543	Deafness, autosomal dominant 12	germline	11	121130157	CTCTGTGACTCTGTGGCCCGGTATGCAAGCGCCTGCAAGAATGCGGACGTGGAGGTGGGGC
121908976	21967	NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter)	SLC37A4	Dec 01, 2014	MedGen:C0268146,OMIM:232220,SNOMED CT:30102006;MedGen:C0342749,OMIM:232240,SNOMED CT:237965005	Glucose-6-phosphate transport defect;Phosphate transport defect	germline;unknown	11	119028288	TGGTTGGCCTGGTCAACATATTCTTTGCCTGGAGCTCCACAGTACCTGTCTTTGCTGCCCT
387907336	51096	NM_001885.2(CRYAB):c.418G>A (p.Asp140Asn)	CRYAB	Apr 18, 2013	MedGen:C3151065,OMIM:613763	Cataract 16, multiple types	germline	11	111908874	CCTCTCACCATTACTTCATCCCTGTCATCTGATGGGGTCCTCACTGTGAATGGACCAAGGA
1057519644	362646	NM_015295.2(SMCHD1):c.410G>A (p.Gly137Glu)	SMCHD1	Feb 27, 2017	MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;Gene:2490,MedGen:C1834671,OMIM:158901	Arhinia choanal atresia microphthalmia;Facioscapulohumeral muscular dystrophy 2	germline;unknown	18	2667017	GTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCGTAAGTATCCCATTCA
312262709	49718	NM_025137.3(SPG11):c.267G>A (p.Trp89Ter)	SPG11	Jan 31, 2013	Gene:255,MedGen:C1865864,OMIM:602099;MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Amyotrophic lateral sclerosis type 5;Spastic paraplegia 11, autosomal recessive	germline	15	44660607	AATCTAAACTTTTTTTCTTAGCTTTCTATGGGAGGATTCTCGTAACAGCAGCACACCAACT
773496891	440076	NM_001199397.1(NEK1):c.2886-1G>A	NEK1	Jun 01, 2017	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	unknown	4	169426235	TGTTTTTAATTGGTGTACCCATCTGTGGCAGGTCGGCAGATAGGATCACCATTCAGGAAAA
267606963	18262	NM_013382.5(POMT2):c.1941G>A (p.Trp647Ter)	POMT2	Sep 18, 2007	MedGen:C3150416,OMIM:613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	germline	14	77278820	TCGAGGAGGCGGCCAGGTCCTGCTCGGCTGGACACTCCATTACTTCCCGTTTTTCCTGATG
2276717	131974	NM_020949.2(SLC7A14):c.988G>A (p.Gly330Arg)	SLC7A14	Mar 27, 2014	MedGen:C3810380,OMIM:615725	Retinitis pigmentosa 68	germline	3	170483441	TCCCCACTCATGGAGATGTTTGTGGCTCATGGGTTCTATGCTGCCAAATTCGTAGTGGCCA
797045495	208264	NM_004380.2(CREBBP):c.5027G>A (p.Trp1676Ter)	CREBBP	Dec 23, 2014	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3731337	CCTTCCTCACCCTCGCCAGAGACAAGCACTGGGAGTTCTCCTCCTTGCGCCGCTCCAAGTG
398122853	38917	NM_004006.2(DMD):c.9G>A (p.Trp3Ter)	DMD	Oct 13, 2017	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;not provided	germline	X	33211304	GCCTTGATATACACTTTTCAAAATGCTTTGGTGGGAAGAAGTAGAGGACTGTTGTAAGTAC
1060502301	396973	NM_000264.4(PTCH1):c.3152G>A (p.Trp1051Ter)	PTCH1	Jul 15, 2016	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002;MedGen:C0027672,SNOMED CT:699346009	Gorlin syndrome;Hereditary cancer-predisposing syndrome	germline	9	95458029	TCGTGTGCGCTGTCTTCCTTCTGAACCCCTGGACGGCCGGGATCATTGTGAGTGTATTATA
387907086	40003	NM_153334.6(SCARF2):c.773G>A (p.Cys258Tyr)	SCARF2	Dec 01, 2010	MedGen:C1833136,OMIM:600920,Orphanet:ORPHA2460	Marden Walker like syndrome	germline	22	20431099	GCGGCCGCTGCCACCCTGTGGACGGCACGTGTGCCTGCGAGCCGGGCTACCGCGGCAAGTA
57661783	77390	NM_002055.4(GFAP):c.628G>A (p.Glu210Lys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44913421	CGCTTCTCTCACCCTGGTCAGGAGGTTCGGGAACTCCAGGAGCAGCTGGCCCGACAGCAGG
397515859	51608	NM_000138.4(FBN1):c.7955G>A (p.Cys2652Tyr)	FBN1	May 02, 2013	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48415632	TCAGTGGAGGATGCCAAGACATCAATGAATGTGGCTCTGCGCAGGCCCCCTGCAGCTATGG
80358250	23199	NM_138638.4(CFL2):c.103G>A (p.Ala35Thr)	CFL2	Mar 15, 2012	MedGen:C1853154,OMIM:610687	Nemaline myopathy 7	germline	14	34713462	ACACAAGAGGAGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGCGATGACAAAA
1085307176	414106	NM_001204.6(BMPR2):c.197G>A (p.Cys66Tyr)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464929	GGACAATATTATGCTCGAAAGGTAGCACCTGCTATGGCCTTTGGGAGAAATCAAAAGGGGA
-1	445847	NM_018488.3(TBX4):c.281+1G>A	TBX4	Oct 02, 2017	MedGen:CN517202	not provided	germline	17	61457632	CACCGAGATGATCATCACTAAGGCTGGCAGGTCAGCGCTGGGAGATTTACTTCCGGGGATG
869025600	224858	NM_001142864.3(PIEZO1):c.1669+1G>A	PIEZO1	Aug 04, 2016	MedGen:C4225184,OMIM:616843	Lymphedema, hereditary, III	germline	16	88735134	CGCTGACGGAGGTCACCGTGGCAGACACAGGTGAGTGGTGGGCCAGAGGCGGGGGTTGCCC
137852821	29075	NM_000439.4(PCSK1):c.1447G>A (p.Gly483Arg)	PCSK1	Jul 01, 1997	MedGen:C1833053,OMIM:600955,Orphanet:ORPHA71528	Proprotein convertase 1/3 deficiency	germline	5	96399020	TTTAATGTATTTAGAGCCCTGAAAGCTAATGGAGAAGTTATCATTGAAATTCCAACAAGAG
1057518849	360912	NM_024757.4(EHMT1):c.2712+1G>A	EHMT1	Sep 27, 2017	Human Phenotype Ontology:HP:0001999,MedGen:C0424503;Human Phenotype Ontology:HP:0002355,MedGen:C0311394;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981;MedGen:CN517202	Abnormal facial shape;Difficulty walking;Global developmental delay;Polymicrogyria;not provided	germline;unknown	9	137800985	AAGGGCTCTGACATCAACATCCGAGACAACGTAAGTTCGTCACACCCTCCCCGGGAGCCGT
45517182	58808	NM_000548.4(TSC2):c.1599+1G>A	TSC2	Nov 02, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2064428	TTCAACAGCCTGCTGGACATCATCGAGAAGGTGAGAGCCGTTGTACCCGGGGCCGGGTGCT
794728021	197402	NM_001613.2(ACTA2):c.116G>A (p.Arg39His)	ACTA2	Jul 24, 2017	MedGen:C2673186,OMIM:611788;MedGen:CN517202	Aortic aneurysm, familial thoracic 6;not provided	germline	10	88948815	CCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAGGTGAGGAAAATTATGAT
587779818	132798	NM_000051.3(ATM):c.170G>A (p.Trp57Ter)	ATM	Aug 04, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	11	108227873	CAGATTCCAAACAAGGAAAATATTTGAATTGGGATGCTGTTTTTAGGTATTCTATTCAAAT
119103241	17139	NM_001040716.1(PC):c.467G>A (p.Arg156Gln)	PC	May 01, 2009	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001	Pyruvate carboxylase deficiency	germline	11	66871335	TCCGCAAGATGGGAGACAAGGTGGAGGCCCGGGCCATCGCCATTGCTGCGGGTGAATATAA
281874669	35585	NM_000495.4(COL4A5):c.142G>A (p.Gly48Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108559064	ACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGAC
80356613	23720	NM_000525.3(KCNJ11):c.157G>A (p.Gly53Ser)	KCNJ11	Jul 05, 2011	MedGen:C1864623,OMIM:610582	Transient neonatal diabetes mellitus 3	germline	11	17387935	AACGTGGCCCACAAGAACATCCGGGAGCAGGGCCGCTTCCTGCAGGACGTGTTCACCACGC
121912773	32696	NM_000494.3(COL17A1):c.1898G>A (p.Gly633Asp)	COL17A1	Aug 01, 2000	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	germline	10	104053072	GAGGGCGAGAAGGCCCCATGGGACCTCGTGGTGAGGCAGGGCCTCCTGGATCTGGAGAGAA
730882082	181226	NM_000527.4(LDLR):c.409G>A (p.Gly137Ser)	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;not applicable;unknown	19	11105315	GTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCA
587777074	97543	NM_001289123.1(TUBB4A):c.964G>A (p.Ala322Thr)	TUBB4A	Apr 01, 2013	MedGen:C1851943,OMIM:128101,Orphanet:ORPHA98805	Autosomal dominant torsion dystonia 4	germline	19	6495688	CCTCGCCTGCACTTCTTCATGCCCGGCTTCGCACCCCTGACCAGCCGGGGCAGCCAGCAGT
80356935	68777	NM_007294.3(BRCA1):c.1059G>A (p.Trp353Ter)	BRCA1	Apr 13, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:CN517202	Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;not provided	germline	17	43094472	TGCTGATCCCCTGTGTGAGAGAAAAGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAAT
587779473	107234	NM_000090.3(COL3A1):c.3482G>A (p.Gly1161Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008099	ATGGAACCAGTGGACATCCAGGTCCCATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGA
886037764	217206	NM_147127.4(EVC2):c.3141G>A (p.Trp1047Ter)	EVC2	-	MedGen:C0013903,OMIM:225500,Orphanet:ORPHA289,SNOMED CT:62501005	Chondroectodermal dysplasia	de novo	4	5576371	AGCCCAGCAGCAGCAGGCCCTGGCGAGCTGGCAGCAGTGGGTGGCCGATGGGCCCGGGATT
137853120	16443	NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn)	TMPRSS6	May 28, 2009	Human Phenotype Ontology:HP:0001935,MedGen:C0085576,OMIM:206200,Orphanet:ORPHA209981,SNOMED CT:234349007	Microcytic anemia	germline	22	37073553	GATGGGCAGCCTGATTGTCTCAACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAG
587777439	139393	NM_000890.4(KCNJ5):c.736G>A (p.Glu246Lys)	KCNJ5	Apr 01, 2014	MedGen:C3150933,OMIM:613677,Orphanet:ORPHA251274	Familial hyperaldosteronism type 3	germline	11	128912009	GCCAAGCTCATCAAGTCCCGGCAGACCAAAGAGGGGGAGTTCATCCCCCTGAACCAGACAG
863224980	213881	NM_004006.2(DMD):c.1331+1G>A	DMD	Nov 07, 2013	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32644131	CAGGGTAGCTAGCATGGAAAAACAAAGCAAGTAAGTCCTTATTTGTTTTTAATTAAGAAGA
121917830	263757	NM_000121.3(EPOR):c.1316G>A (p.Trp439Ter)	EPOR	Jun 28, 2016	MedGen:C1851490,OMIM:133100	Familial erythrocytosis, 1	germline	19	11378195	TGGACCCCAGCTCCCAGCTCTTGCGTCCATGGACACTGTGCCCTGAGCTGCCCCCTACCCC
774396430	441048	NM_000083.2(CLCN1):c.979G>A (p.Val327Ile)	CLCN1	Dec 20, 2015	MedGen:CN517202	not provided	germline	7	143330897	CGAGTGCTGGCAGTGTGGAACAAGGATGCTGGTAACCAAGGAGGCCTTGGGTGGAGGCCAT
374793617	55278	NM_024022.2(TMPRSS3):c.323-6G>A	TMPRSS3	Oct 17, 2013	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	21	42388532	GCCACTAATAAGCCTTTCTTTCTGCACATCGGCCAGTCCGGGTGGGTGGTCAGAATGCCGT
869320711	227151	NM_001163436.2(TBCK):c.1532G>A (p.Arg511His)	TBCK	May 19, 2016	MedGen:C4225161,OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	germline	4	106233045	TATTTTAACAGATTGAAGTGGATATTCCTCGCTGTCATCAGTACGATGAACTGTTATCATC
122445104	26775	NM_000489.4(ATRX):c.5225G>A (p.Arg1742Lys)	ATRX	Aug 01, 1999	MedGen:C1845055,OMIM:301040,Orphanet:ORPHA847	ATR-X syndrome	germline	X	77620442	CTAAAGCTATGAATTCTATACGATCAAGGAGGAGGATTATTTTAACAGGAACACCACTTCA
121918351	22659	NM_000214.2(JAG1):c.551G>A (p.Arg184His)	JAG1	Mar 29, 2016	MedGen:C1956125,OMIM:118450	Alagille syndrome 1	germline	20	10658611	CGGGCGTTGCCCACTTTGAGTATCAGATCCGCGTGACCTGTGATGACTACTACTATGGCTT
1800747	70044	NM_007294.3(BRCA1):c.5075-1G>A	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN517202	Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	germline;unknown	17	43063952	TCTAATCCTTTGAGTGTTTTTCATTCTGCAGATGCTGAGTTTGTGTGTGAACGGACACTGA
377651057	36391	NM_000060.4(BTD):c.935G>A (p.Gly312Asp)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644791	ACCACCCAGTTCTGGGGATGACAGGAAGTGGCATACACACCCCTCTGGAGTCCTTTTGGTA
864621970	204425	NM_001015051.3(RUNX2):c.476G>A (p.Gly159Asp)	RUNX2	Apr 01, 2015	MedGen:C0008928,OMIM:119600,Orphanet:ORPHA1452,SNOMED CT:65976001	Cleidocranial dysostosis	de novo	6	45431915	CAGATGGGACTGTGGTTACTGTCATGGCGGGTAACGATGAAAATTATTCTGCTGAGCTCCG
1131691085	420771	NM_001042492.2(NF1):c.1278G>A (p.Trp426Ter)	NF1	May 13, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31206257	TGTTTTTCTCTAGTCCGCATTGGATTGGTGGCCTAAGATTGATGCTGTGTATTGTCACTCG
769677823	244092	NM_003922.3(HERC1):c.13559G>A (p.Gly4520Glu)	HERC1	Aug 04, 2016	MedGen:C4310766,OMIM:617011,Orphanet:ORPHA457359	Macrocephaly, dysmorphic facies, and psychomotor retardation	germline	15	63623777	GAGCGTGGAAGGTTAAGCTGGTTGGAGAAGGGGCTGATGATGCTGGAGGAGTGTTTGATGA
1057518162	359378	NM_002977.3(SCN9A):c.2108G>A (p.Trp703Ter)	SCN9A	Oct 21, 2016	MedGen:CN517202	not provided	germline	2	166280559	AAGAGTCCAGACAAAAATGTCCACCTTGGTGGTACAGATTTGCACACAAATTCTTGATCTG
1064794060	405452	NM_001256850.1(TTN):c.71355G>A (p.Trp23785Ter)	TTN	Aug 24, 2015	MedGen:CN517202	not provided	germline	2	178569854	CATAACCAGATCTTCAGTATTCCTTTCTTGGAGCAAACCAATATATGATGGTGGCTGTGAA
1057516088	354020	NM_172107.3(KCNQ2):c.643G>A (p.Gly215Arg)	KCNQ2	Mar 31, 2016	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	germline	20	63444706	ATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTGCTGGGCTCTGTGG
200398202	39314	NM_002977.3(SCN9A):c.1867G>A (p.Asp623Asn)	SCN9A	Jan 01, 2012	MedGen:C3276709	Small fiber neuropathy	germline	2	166284560	CCGGTGAACGGGAAAATGCACAGTGCTGTGGACTGCAACGGTGTGGTCTCCCTGGTTGATG
61754455	153262	NM_004992.3(MECP2):c.311G>A (p.Trp104Ter)	MECP2	Feb 03, 2006	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	Rett syndrome	unknown	X	154032273	TGTATGATGACCCCACCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAATCTGG
121917752	27918	NM_001040142.1(SCN2A):c.668G>A (p.Arg223Gln)	SCN2A	Apr 01, 2004	MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927	Benign familial neonatal-infantile seizures	germline	2	165309414	TCTCAGCGTTGAGAACATTCAGAGTTCTCCGAGCATTGAAAACAATTTCAGTCATTCCAGG
140385286	482070	NM_025137.3(SPG11):c.1085G>A (p.Trp362Ter)	SPG11	Oct 31, 2017	MedGen:CN517202	not provided	germline	15	44651862	CCAAACTGGAGGTTTCCTGTTGTGCTCCATGGTTCCAGGATATTTTGCATTTGGAGTCACC
121965050	15206	NM_000274.3(OAT):c.550G>A (p.Ala184Thr)	OAT	Jun 01, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124405534	GCTGGGAACTTCTGGGGTAGGACGTTGTCTGCTATCTCCAGTTCCACAGACCCAACCAGTT
121908991	21891	NM_016203.3(PRKAG2):c.1592G>A (p.Arg531Gln)	PRKAG2	Jun 20, 2017	MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Glycogen storage disease of heart, lethal congenital;Primary familial hypertrophic cardiomyopathy;not provided	germline	7	151560610	GTGTCCTGCTTTTCTCTTTGCAGGTCCATCGGCTGGTGGTGGTAAATGAAGCAGATAGTAT
-1	448520	NM_000642.2(AGL):c.4347+1G>A	AGL	Jul 07, 2017	MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease type III	germline	1	99916498	GCTAAAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTTATCTTCTGAGTTTCAG
80356533	27950	NM_152296.4(ATP1A3):c.829G>A (p.Glu277Lys)	ATP1A3	Jul 15, 2016	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	de novo;germline	19	41985082	CTGGAGGTGGGCAAGACGCCCATCGCCATCGAGATTGAGCACTTCATCCAGCTCATCACCG
80358809	66611	NM_000059.3(BRCA2):c.581G>A (p.Trp194Ter)	BRCA2	Nov 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32326563	TAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCT
730882139	181182	NM_001039550.1(DNAJB2):c.229+1G>A	DNAJB2	Apr 30, 2015	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485	Charcot-Marie-Tooth disease;Spinal muscular atrophy, distal, autosomal recessive, 5	germline	2	219281772	GCTATGGCCGGGAAGGGCTGACAGGGACAGGTAGGTGGAGTGGTGAGGCCCAGGAATGGAG
771317809	371156	NM_000790.3(DDC):c.1073G>A (p.Arg358His)	DDC	Oct 17, 2016	MedGen:C1291564,OMIM:608643,Orphanet:ORPHA35708,SNOMED CT:124600004;MedGen:CN517202	Deficiency of aromatic-L-amino-acid decarboxylase;not provided	germline;maternal	7	50470140	ATTGGCAGATACCACTGGGCAGAAGATTTCGCTCTTTGAAAATGTGGTTTGTATTTAGGAT
730881116	178913	NM_001001430.2(TNNT2):c.861G>A (p.Trp287Ter)	TNNT2	Jan 09, 2017	MedGen:CN230736;MedGen:CN517202	Cardiovascular phenotype;not provided	germline	1	201359216	CCGCGGGAAGGCTAAAGTCACCGGGCGCTGGAAATAGAGCCTGGCCTCCTTCACCAAAGAT
121912459	29822	NM_000454.4(SOD1):c.289G>A (p.Asp97Asn)	SOD1	Feb 01, 2001	MedGen:CN070063	Amyotrophic lateral sclerosis 1, autosomal recessive	germline	21	31667307	AATGTGACTGCTGACAAAGATGGTGTGGCCGATGTGTCTATTGAAGATTCTGTGATCTCAC
886037753	209379	NM_002230.2(JUP):c.468G>A (p.Pro156=)	JUP	Jun 01, 2010	MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217	Naxos disease	germline	17	41769418	GCTCACCAAACTGCTCAACGACGAGGACCCGGTCTGTGAGGGTCCCTGCTAGGGTGGGGGC
755959303	247652	NM_144997.6(FLCN):c.1432+1G>A	FLCN	Apr 07, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas;not provided	germline	17	17215184	CCAGTGGGAGCCCTGTAGCTGCAGACCGAGGTGGGTGCCCCCAGGCAGAGTGTCCTTTTTG
587779642	107120	NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003010	AAGGAGAAAGAGGGGCTCCGGGTGAGAAAGGTGAAGGAGGCCCTCCTGGAGTTGCAGGACC
398124574	102473	NM_000056.4(BCKDHB):c.344-1G>A	BCKDHB	Aug 23, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	6	80167677	ACATTAACCTTTTTTTCTTTTCTATTTTAAGGAAAAGATAGAGTTTTTAATACCCCATTGT
137854439	15813	NM_198488.3(FAM83H):c.1380G>A (p.Trp460Ter)	FAM83H	Aug 01, 2008	MedGen:C0399376,OMIM:130900,Orphanet:ORPHA100032,SNOMED CT:109471001	Amelogenesis imperfecta, hypocalcification type	germline	8	143728081	TGACCAGCTCTACCAGCAGCAGTACCAGTGGGACCCGCAGCTCACGCCGGCGCGCCCGCAA
147936696	199792	NM_001609.3(ACADSB):c.303+1G>A	ACADSB	Jul 30, 2015	MedGen:C1864912,OMIM:610006,Orphanet:ORPHA79157,SNOMED CT:444838008;MedGen:CN517202	Deficiency of 2-methylbutyryl-CoA dehydrogenase;not provided	germline	10	123037848	TCAGTAATACAAGGATTATTTCAACAAGGGGTACATTTCATAATTCTTCCACTTTCAAGCT
767182886	481696	NM_000094.3(COL7A1):c.5532+1G>A	COL7A1	Nov 29, 2017	MedGen:CN517202	not provided	germline	3	48578320	GATGGCAAACCTGGCCTGAATGGAAAAAACGTGAGTGTGTCCAGGGCAGCTGCGGCGAAAC
121909152	22821	NM_000288.3(PEX7):c.649G>A (p.Gly217Arg)	PEX7	Mar 04, 2016	MedGen:CN159238,OMIM:614879;MedGen:C1859133,OMIM:215100,Orphanet:ORPHA309789	Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1	germline;unknown	6	136869905	CTGAATTGTTTTTAGAATTTGCTGGTGACCGGGGCGGTTGACTGTAGTTTGAGAGGCTGGG
1135401764	424701	NM_001197104.1(KMT2A):c.3334+1G>A	KMT2A	Aug 01, 2017	MedGen:C1854630,OMIM:605130,Orphanet:ORPHA319182	Wiedemann-Steiner syndrome	de novo	11	118476983	AAAAGATTTTGTCTTCCATGGGGAATGATGGTAGGTCAAGAAGGTCAATCTTGGAGTCGGA
397515612	76829	m.3376G>A	MT-ND1	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	not provided	MT	3376	CTAATCGCAATGGCATTCCTAATGCTTACCGAACGAAAAATTCTAGGCTATATACAACTAC
66527965	32365	NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser)	COL1A1	Jan 01, 1993	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50193038	CCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGAC
143570936	177421	NM_000023.3(SGCA):c.739G>A (p.Val247Met)	SGCA	Jun 12, 2017	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline;unknown	17	50169246	GCACCCCACTTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCG
80358294	20525	NM_012193.3(FZD4):c.1250G>A (p.Arg417Gln)	FZD4	Aug 01, 2005	MedGen:C1851402,OMIM:133780;MedGen:C1858262	Exudative vitreoretinopathy 1;Exudative vitreoretinopathy, digenic	germline	11	86951506	CTGCAGGTTTGGTGGCCTTGTTCAAAATTCGGTCAAATCTTCAAAAGGATGGGACAAAGAC
1064796928	432165	NM_000444.5(PHEX):c.1586+1G>A	PHEX	Nov 06, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22178377	CTGGCTAAGAAAAGCCGTTCCAAAAACAGAGTGAGTATTAAACAAAAAAAGTTAAATAGAT
81002797	66376	NM_000059.3(BRCA2):c.475+1G>A	BRCA2	Apr 03, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32326151	CACATGTAACACCACAAAGAGATAAGTCAGGTATGATTAAAAACAATGCTTTTTATTCTTA
999921351	417101	NM_019098.4(CNGB3):c.1460G>A (p.Trp487Ter)	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86628939	AGCGAGTTCGGACTTGGTATGAATATACATGGGACTCTCAAAGAATGCTAGGTAAGCATGG
80358544	46368	NM_000059.3(BRCA2):c.2979G>A (p.Trp993Ter)	BRCA2	Feb 03, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline	13	32337334	AGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCAC
80358162	131276	NM_007294.3(BRCA1):c.4986+1G>A	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370	Breast-ovarian cancer, familial 1	germline	17	43070927	GTGGTGTCTGGCCTGACCCCAGAAGAATTTGTGAGTGTATCCATATGTATCTCCCTAATGA
72558414	103164	NM_000531.5(OTC):c.620G>A (p.Ser207Asn)	OTC	-	MedGen:CN517202	not provided	unknown	X	38403697	GGAACAATATCCTGCACTCCATCATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAGGC
587777384	136550	NM_001615.3(ACTG2):c.533G>A (p.Arg178His)	ACTG2	May 02, 2015	MeSH:D030342,MedGen:C0950123;MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241	Inborn genetic diseases;Visceral myopathy	de novo;germline;maternal	2	73913566	AAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGA
863223776	210204	NM_000192.3(TBX5):c.755G>A (p.Ser252Asn)	TBX5	May 05, 2015	MedGen:CN517202	not provided	germline	12	114385476	TGGAGCTGCACAGAATGTCAAGAATGCAAAGGTAGGAAAGTGGATTCCTCAACTTTCTCCT
121918009	28711	NM_000478.5(ALPL):c.1001G>A (p.Gly334Asp)	ALPL	Nov 04, 2016	MedGen:C0020630,Orphanet:ORPHA436;Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002;MedGen:CN517202	Hypophosphatasia;Infantile hypophosphatasia;not provided	germline;unknown	1	21575736	CCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAA
5030817	52772	NM_000551.3(VHL):c.464-1G>A	VHL	May 26, 2015	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10149786	GCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGG
28939080	20231	NM_054027.4(ANKH):c.1165G>A (p.Gly389Arg)	ANKH	Jun 01, 2009	MedGen:C0856830,OMIM:118600;MedGen:C1852502,OMIM:123000	Chondrocalcinosis 2;Craniometaphyseal dysplasia, autosomal dominant	germline	5	14713644	CCAACAGTCACAGTGAGGGCGCATCTCACCGGGTGGCTGATGACACTGAAGAAAACCTTCG
121908664	21313	NM_002335.3(LRP5):c.1481G>A (p.Arg494Gln)	LRP5	Sep 16, 2016	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001;MedGen:CN517202	Osteoporosis with pseudoglioma;not provided	germline	11	68389949	TCGAGTGTGCCAACTTGGATGGGCAGGAGCGGCGTGTGCTGGTCAATGCCTCCCTCGGGTG
121909092	22321	NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)	DNM2	Jun 13, 2017	MedGen:C1847902,OMIM:606482;MedGen:CN221282;MedGen:C1834558,OMIM:160150,Orphanet:ORPHA169189	DNM2-related intermediate Charcot-Marie-Tooth neuropathy;Myopathy, centronuclear;Myopathy, centronuclear, 1	germline	19	10793829	GGGGGCGCCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAGGTAG
779592523	211790	NM_017775.3(TTC19):c.194G>A (p.Trp65Ter)	TTC19	Sep 18, 2012	MedGen:CN517202	not provided	germline	17	16000127	CCTCAGAGCCCCTTCCCGCAGCGCTCGCCTGGTTCTCGAGGCCCGCTGCGGCAGAGGAGGA
121912455	29818	NM_000454.4(SOD1):c.217G>A (p.Gly73Ser)	SOD1	Dec 09, 1997	MedGen:C1862939,OMIM:105400	Amyotrophic lateral sclerosis type 1	germline	21	31666496	CCTCACTTTAATCCTCTATCCAGAAAACACGGTGGGCCAAAGGATGAAGAGAGGTAACAAG
121908377	20106	NM_014491.3(FOXP2):c.1658G>A (p.Arg553His)	FOXP2	Mar 02, 2016	MedGen:C0750927,OMIM:602081,Orphanet:ORPHA209908	Speech-language disorder 1	germline	7	114662075	TTCTCTTCTGTCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACAAGTGTTTTGT
587779617	107083	NM_000090.3(COL3A1):c.2824-1G>A (p.Gly942Glufs*294)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004256	AGATGAGCTAAGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGG
119476044	19395	NM_022051.2(EGLN1):c.1112G>A (p.Arg371His)	EGLN1	Sep 15, 2007	MedGen:C1853286,OMIM:609820	Erythrocytosis, familial, 3	germline	1	231370598	ATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATATGC
121908450	20888	NM_022336.3(EDAR):c.266G>A (p.Arg89His)	EDAR	Nov 20, 2012	MedGen:C0406702,OMIM:224900,Orphanet:ORPHA248,SNOMED CT:27025001;MedGen:C3551587	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant	germline	2	108929288	TTTCCAAAGGAGGCTACCAGATATGCAGGCGTCACAAAGACTGTGAGGGCTTCTTCCGGGC
121909234	22877	NM_000314.6(PTEN):c.649G>A (p.Val217Ile)	PTEN	Sep 01, 2000	Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003	Malignant melanoma	somatic	10	87957867	GTATTTAACCATGCAGATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGATATATTCCT
-1	433572	NM_144997.6(FLCN):c.507G>A (p.Trp169Ter)	FLCN	Feb 14, 2017	MedGen:CN169374	not specified	germline	17	17224033	GGACAGCCTGGCCAGGGGCTTCCAGCGCTGGTACAGCATCATCACCATCATGATGGACCGG
886039414	259999	NM_130799.2(MEN1):c.660G>A (p.Trp220Ter)	MEN1	May 06, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	64807675	CATAATGATCTCATCCCCCCCTAAGAGCTGGCTGTACCTGAAAGGATCATACATGCGCTGT
879254606	245677	NM_000527.4(LDLR):c.642G>A (p.Trp214Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105548	CCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGAC
200402328	172245	NM_002206.2(ITGA7):c.2357+1G>A	ITGA7	Mar 15, 2017	MedGen:CN517202	not provided	germline	12	55694442	GGAACTGGAGGTAGAGCTGCTGTTGGCCACGTAAGCCAGGCGGGGCCGGAAGGGTGAGGTG
-1	440086	NM_025132.3(WDR19):c.475G>A (p.Asp159Asn)	WDR19	Jun 01, 2017	MedGen:C0432198,OMIM:269860,SNOMED CT:254052001	Type IV short rib polydactyly syndrome	paternal	4	39199546	GCAGAAAATCTGCTTGCTTTAGGTGGTGAAGATAAAATGATTACAGTTAGTAATCAGGAAG
587776908	40340	NM_017755.5(NSUN2):c.2035G>A (p.Gly679Arg)	NSUN2	May 04, 2012	MedGen:C1970199,OMIM:611091	Mental retardation, autosomal recessive 5	unknown	5	6600195	GACGCTCTGCAGTGTCCCATCGTCTTATGCGGATGGCGGGGAAAGGCCTCCATTCGAACTT
121918722	27527	NM_000359.2(TGM1):c.1147G>A (p.Val383Met)	TGM1	Jul 01, 1997	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24259087	CCCTATGGCCAGTGCTGGGTCTTTGCTGGCGTGACCACCACAGGTAGTGGAGGGACTGGGA
63750900	46864	NM_000021.3(PSEN1):c.806G>A (p.Arg269His)	PSEN1	Dec 23, 2010	MedGen:C1847200,OMIM:606889;MedGen:CN517202	Alzheimer disease, type 4;not provided	not provided	14	73198067	TGGCTGTTTTGTGTCCGAAAGGTCCACTTCGTATGCTGGTTGAAACAGCTCAGGAGAGAAA
730882246	181441	NM_194279.3(ISCA2):c.229G>A (p.Gly77Ser)	ISCA2	Nov 08, 2017	Human Phenotype Ontology:HP:0001522,MedGen:C1844947;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;MedGen:CN228271;MedGen:CN234684;MedGen:C4225348,OMIM:616370,Orphanet:ORPHA457406;Human Phenotype Ontology:HP:0008936,MedGen:C1853743;MedGen:CN228311;Human Phenotype Ontology:HP:0000648,MedGen:C0029124;Human Phenotype Ontology:HP:0002510,MedGen:C0426970;MedGen:CN517202	Death in infancy;Failure to thrive;Global developmental delay;High CSF lactic acid;Multiple mitochondrial dysfunctions syndrome;Multiple mitochondrial dysfunctions syndrome 4;Muscular hypotonia of the trunk;Neurodegeration;Optic atrophy;Spastic tetraplegia;not provided	germline	14	74494329	TCAGAATTCCTCAGGCTGCAAGTGGAGGGAGGTGGATGCTCCGGATTCCAATACAAATTTT
794727001	190883	NM_015629.3(PRPF31):c.1073+1G>A	PRPF31	Apr 01, 2015	MedGen:C1838601,OMIM:600138	Retinitis pigmentosa 11	germline	19	54128201	TGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGG
180177227	200501	NM_000030.2(AGXT):c.481G>A (p.Gly161Ser)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240871406	CTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGG
281864922	31098	NM_000824.4(GLRB):c.610+5G>A	GLRB	Oct 04, 2012	MedGen:C3553291,OMIM:614619	Hyperekplexia 2	germline	4	157136891	ACGTTGCAAGATGCAACTGGAGAGCTGTACGTAAATGAGAACATAATTGATTATGAAAATA
28937893	19559	NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)	WFS1	Aug 17, 2017	MedGen:C0043207,OMIM:222300,Orphanet:ORPHA3463,SNOMED CT:70694009;MedGen:C1833021,OMIM:600965;MedGen:CN517202	Diabetes mellitus AND insipidus with optic atrophy AND deafness;WFS1-Related Disorders;not provided	germline	4	6301941	TACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCT
397508230	67953	NM_000492.3(CFTR):c.1584+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117559656	AGCGTCATCAAAGCATGCCAACTAGAAGAGGTAAGAAACTATGTGAAAACTTTTTGATTAT
33930702	30558	NM_000518.4(HBB):c.3G>A (p.Met1Ile)	HBB	Feb 06, 2017	MedGen:C0271980,SNOMED CT:86715000;MedGen:CN517202;MedGen:CN169374	beta^0^ Thalassemia;not provided;not specified	germline	11	5227019	TGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCC
-1	469984	NM_003073.4(SMARCB1):c.1118+1G>A	SMARCB1	Apr 16, 2017	MedGen:C1836327,OMIM:609322	Rhabdoid tumor predisposition syndrome 1	germline	22	23833704	GAAGATCCGCGACCAGGACAGGAACACGAGGTACCCCTGGCCCTGTGGTCCTGGGCTCTGC
121434411	21684	NM_003659.3(AGPS):c.1256G>A (p.Arg419His)	AGPS	Apr 24, 1998	MedGen:C1838612,OMIM:600121,Orphanet:ORPHA309803	Rhizomelic chondrodysplasia punctata type 3	germline	2	177493170	TAAAACAGAGATGTGCTCCGGCATCTATTCGCCTCATGGACAACAAGCAGTTTCAGTTTGG
765696008	228162	NM_000527.4(LDLR):c.1187-10G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841	Familial hypercholesterolemia;Familial hypercholesterolemias	germline	19	11113268	GTCCCCTCTGACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCT
121908359	19910	NM_023067.3(FOXL2):c.560G>A (p.Gly187Asp)	FOXL2	Feb 05, 2015	MedGen:C0220663,OMIM:110100,Orphanet:ORPHA126;MedGen:C1837008,OMIM:608996	Blepharophimosis, ptosis, and epicanthus inversus;Premature ovarian failure 3	germline	3	138946163	GCGTGGCGGGCGCCGGGGCCGACGGCTACGGCTACCTGGCGCCCCCCAAGTACCTGCAGTC
119103287	259892	NM_000127.2(EXT1):c.1019G>A (p.Arg340His)	EXT1	Apr 07, 2015	MedGen:CN517202	not provided	germline	8	117837145	ATGCCACTTTCTGTCTGGTTCCTCGTGGTCGCAGGCTTGGGTCCTTCAGATTCCTGGAGGC
587783432	168599	NM_017780.3(CHD7):c.2613+1G>A	CHD7	Feb 08, 2013	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	germline	8	60816502	AAGCAGGGCCAGAACAAGTTCCTTTCAGAGGTACGACATACCTGCTTACTTTTCCAAAGTA
587779456	106893	NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189005396	CAGGAGCTAACGGTCTCAGTGGAGAACGTGGTCCCCCTGGACCCCAGGGTCTTCCTGGTCT
-1	434149	NM_174936.3(PCSK9):c.1174G>A (p.Val392Met)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55057508	CAGAGTGGGACATCACAGGCTGCTGCCCACGTGGCTGGTAAGTCACCACCCCACTGCCTCG
104886350	35591	NM_000495.4(COL4A5):c.232-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108563881	GACAAAAACCTAAAAATATTGCATTTTTCAGGGTGATGATGGAATTCCAGGGCCACCAGGA
773073663	209951	NM_000118.3(ENG):c.1272+1G>A	ENG	May 12, 2015	MedGen:CN517202	not provided	germline	9	127819899	CAGGTGTCAGCAAGTATGATCAGCAATGAGGTAAGAGCTGGGGCCAAAAAGGTATCAGGAC
121965042	15194	NM_000274.3(OAT):c.812G>A (p.Arg271Lys)	OAT	Feb 15, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124403015	TTGCTGATGAAATACAGACAGGATTGGCCAGAACTGGTAGATGGCTGGCTGTTGATTATGA
587782050	151555	NM_024675.3(PALB2):c.3476G>A (p.Trp1159Ter)	PALB2	Apr 22, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	23603544	CCCTCCTCCCACCTGTCTCTGACCAACATTGGTCTTTTGTGAAATGGTCGGGTACAGACTC
886039714	259830	NM_005654.5(NR2F1):c.262G>A (p.Val88Met)	NR2F1	Aug 12, 2016	MedGen:CN517202	not provided	germline	5	93585285	GGCCAGAGCCAGCAGCACATCGAGTGCGTGGTGTGCGGGGACAAGTCGAGCGGCAAGCACT
587776693	23531	NM_001127221.1(CACNA1A):c.3992+1G>A	CACNA1A	Nov 01, 1996	MedGen:C1720416,OMIM:108500,Orphanet:ORPHA97,SNOMED CT:420932006	Episodic ataxia type 2	germline	19	13275849	CAGTGGGGCCCTGGTAGCCTTTGCCTTCACGTAAGTCTCCTCGCAAGGGTTCCTCTTGCCT
774518779	260039	NM_004004.5(GJB2):c.506G>A (p.Cys169Tyr)	GJB2	Oct 10, 2017	MedGen:C2673759,OMIM:220290;MedGen:CN517202	Deafness, autosomal recessive 1A;not provided	germline	13	20189076	ACGGCTTCTCCATGCAGCGGCTGGTGAAGTGCAACGCCTGGCCTTGTCCCAACACTGTGGA
61214927	29557	NM_170707.3(LMNA):c.688G>A (p.Asp230Asn)	LMNA	Feb 01, 2007	MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348;MedGen:CN517202	Familial partial lipodystrophy 2;not provided	germline	1	156134853	CGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCC
267608680	49672	NM_007055.3(POLR3A):c.3991G>A (p.Ala1331Thr)	POLR3A	Aug 02, 2012	MedGen:C1843200,OMIM:607694	Hypomyelinating leukodystrophy 7	not provided	10	77980174	TTTGAGAAGACGGCTGACCATCTCTTTGACGCTGCCTACTTCGGGCAGAAGGACTCTGTGT
-1	428195	NM_015175.2(NBEAL2):c.1793G>A (p.Trp598Ter)	NBEAL2	Dec 28, 2016	MedGen:C0272302,OMIM:139090,SNOMED CT:51720005	Gray platelet syndrome	germline	3	46995528	CGGGCATCATGGTACCCCCTGTACAGCGATGGCCAGGGCCTGGCTTCACCTTTCATGCCTG
398123937	100489	NM_004006.2(DMD):c.3432+1G>A	DMD	Aug 27, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32463438	AACACTCAGTGGGATCACATGTGCCAACAGGTATAGACAATCTCTTTCACTGTGGCTTGCC
587784491	169007	NM_006009.3(TUBA1A):c.5G>A (p.Arg2His)	TUBA1A	Oct 03, 2015	MeSH:D030342,MedGen:C0950123;MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011;MedGen:CN517202	Inborn genetic diseases;Lissencephaly 3;not provided	germline	12	49186832	TACGATTTTTTCACTTTTCCTCCCCACAGCGTGAGTGCATCTCCATCCACGTTGGCCAGGC
757486575	211548	NM_007103.3(NDUFV1):c.349G>A (p.Ala117Thr)	NDUFV1	Jun 08, 2012	MedGen:CN517202	not provided	germline	11	67609474	CCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGG
104886084	35687	NM_000495.4(COL4A5):c.937G>A (p.Gly313Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108582884	TGATGTCACCCTATCCTCTATGTTTTAAAGGGTTTGCCTGGTGATCCTGGTTACCCTGGTG
1060502287	397247	NM_000264.4(PTCH1):c.708G>A (p.Trp236Ter)	PTCH1	Jan 05, 2017	MedGen:C0004779,OMIM:109400,Orphanet:ORPHA377,SNOMED CT:69408002	Gorlin syndrome	germline	9	95481987	TTTGATTATTACACCTTTGGACTGCTTCTGGGAAGGGGCGAAATTACAGTCTGGGACAGCA
1060499548	361695	NM_007313.2(ABL1):c.1066G>A (p.Ala356Thr)	ABL1	Aug 02, 2017	Human Phenotype Ontology:HP:0011842,MedGen:C4023165;MedGen:CN368510,OMIM:617602;MedGen:C0152021,SNOMED CT:13213009;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;MedGen:CN517202	Abnormality of skeletal morphology;CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME;Congenital heart disease;Failure to thrive;not provided	de novo;germline	9	130872961	CTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGA
112445441	27619	NM_033360.3(KRAS):c.38G>A (p.Gly13Asp)	KRAS	Mar 10, 2016	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;MedGen:C0858252,Orphanet:ORPHA213528;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MeSH:D010051,MedGen:CN236629;MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114	Acute myeloid leukemia;Breast adenocarcinoma;Colorectal Neoplasms;Juvenile myelomonocytic leukemia;Neoplasm of the thyroid gland;Non-small cell lung cancer;Ovarian Neoplasms;RAS-associated autoimmune leukoproliferative disorder	somatic	12	25245347	AATATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAGGCAAGAGTGCCTTGACGATACAGCT
374143224	187013	NM_000152.4(GAA):c.1979G>A (p.Arg660His)	GAA	Apr 25, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002;MedGen:CN517202	Glycogen storage disease, type II;not provided	germline;unknown	17	80112966	TGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTT
1114167482	419813	NM_130799.2(MEN1):c.1022G>A (p.Trp341Ter)	MEN1	Feb 21, 2017	MedGen:C0027672,SNOMED CT:699346009;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1	germline	11	64806259	ACCGCAATGTGCGGGAAGCCCTGCAGGCCTGGGCGGACACGGCCACTGTCATCCAGGAGTG
397514580	48358	NM_000162.3(GCK):c.1015G>A (p.Glu339Lys)	GCK	Nov 06, 2012	MedGen:C1841962,OMIM:125851	Maturity-onset diabetes of the young,  type 2	germline	7	44146467	GCCTTCGAGACGCGCTTCGTGTCGCAGGTGGAGAGGTGTGCGGAGGAGGAGGGTGGGTGCA
63751241	426806	NM_001171.5(ABCC6):c.4198G>A (p.Glu1400Lys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154638	CAGCTGCAGTACAAGTGTGCTGACCGAGGCGAGGACCTGAGGTATGGTCGTCCCACCATGG
121918093	28494	NM_000371.3(TTR):c.118G>A (p.Val40Ile)	TTR	Aug 24, 2017	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008;MedGen:CN517202	Amyloidogenic transthyretin amyloidosis;not provided	germline	18	31592944	TGTCCTCTGATGGTCAAAGTTCTAGATGCTGTCCGAGGCAGTCCTGCCATCAATGTGGCCG
121912299	47542	NM_001363.4(DKC1):c.1204G>A (p.Gly402Arg)	DKC1	May 10, 2012	MedGen:C1148551,OMIM:305000	Dyskeratosis congenita X-linked	germline	X	154774650	ATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCT
587777588	152013	NM_002880.3(RAF1):c.709G>A (p.Ala237Thr)	RAF1	Jun 01, 2014	MedGen:C4014656,OMIM:615916	Cardiomyopathy, dilated, 1NN	germline	3	12604261	AGTTCTCAGCACAGATATTCTACACCTCACGCCTTCACCTTTAACACCTCCAGTCCCTCAT
33933298	30280	NM_000518.4(HBB):c.295G>A (p.Val99Met)	HBB	Apr 24, 2017	na;Human Phenotype Ontology:HP:0005511,MedGen:C0700299,OMIM:140700,Orphanet:ORPHA178330;MedGen:C0019045,Orphanet:ORPHA68364,SNOMED CT:80141007;MedGen:CN169374	HEMOGLOBIN MEDICINE LAKE;Heinz body anemia;Hemoglobinopathy;not specified	germline	11	5226597	CTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGGTGAGTCTAT
886041903	264923	NM_000489.4(ATRX):c.5957-1G>A	ATRX	Jul 26, 2016	MedGen:CN517202	not provided	germline	X	77593850	TACCTACTTATGTTCCATTTGTCTTATTTAGGTAAAGCTACTTCTTCTTCTAATCCAAGCA
587777770	143178	NM_006623.3(PHGDH):c.418G>A (p.Gly140Arg)	PHGDH	Jun 05, 2014	MedGen:CN032230,OMIM:256520;MedGen:CN517202	Neu-Laxova syndrome 1;not provided	germline	1	119727010	TTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAA
104894062	16213	NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln)	CYP11B1	Jul 01, 2009	MedGen:C0268292,OMIM:202010,Orphanet:ORPHA90795,SNOMED CT:124214007	Deficiency of steroid 11-beta-monooxygenase	germline	8	142875712	TGCTGCGTGCGGCCCTCAAGGAGACCTTGCGGTGGGTGCTGGCTGAGGCCTCCCTGTGGCC
267607183	16090	NM_022489.3(INF2):c.653G>A (p.Arg218Gln)	INF2	Jan 01, 2010	MedGen:C2750475,OMIM:613237	Focal segmental glomerulosclerosis 5	germline	14	104703440	CCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTG
122454123	26714	NM_006306.3(SMC1A):c.1487G>A (p.Arg496His)	SMC1A	Feb 01, 2009	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009	Congenital muscular hypertrophy-cerebral syndrome	germline	X	53409120	ATGCCCGCATCGACCGCCAGGAGAGCAGCCGCCAGCAGCGAAAGGCAGAGATAATGGAAAG
121909596	31977	NM_006891.3(CRYGD):c.176G>A (p.Arg59His)	CRYGD	Sep 01, 2007	Human Phenotype Ontology:HP:0010926,MedGen:C1861832,OMIM:115700	Cataract 4	germline	2	208124188	CCAACTACTCGGGCCTCCAGTACTTCCTGCGCCGCGGCGACTATGCCGACCACCAGCAGTG
794729116	198395	NM_004572.3(PKP2):c.2299+1G>A	PKP2	May 01, 2012	MedGen:CN517202	not provided	germline	12	32802402	CCCGGAATCTTTCTCTGCAGAATGAAATTGGTGAGTCGGTATAAGTATCTATGTGTAATAT
104886187	35878	NM_000495.4(COL4A5):c.2555G>A (p.Gly852Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108620304	CAGGAGAGAAGGGGGATCCAGGACCTCCTGGACTTGATGTTCCAGGACCCCCAGGTGAAAG
370479598	430078	NM_005912.2(MC4R):c.181G>A (p.Glu61Lys)	MC4R	Aug 30, 2016	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001;MedGen:CN233047;MedGen:CN517202	Obesity;Obesity, autosomal dominant;not provided	germline	18	60372169	TTTGTGACTCTGGGTGTCATCAGCTTGTTGGAGAATATCTTAGTGATTGTGGCAATAGCCA
80338775	15889	NM_080669.5(SLC46A1):c.1082-1G>A	SLC46A1	Dec 08, 2011	MedGen:C0342705,OMIM:229050,Orphanet:ORPHA90045,SNOMED CT:62578003	Congenital defect of folate absorption	germline	17	28402322	ATTTTCCTGATGAGTGTTTGTTTCTCCACAGGATATGGGTTGCTTTTCCTGTCATTAGTCA
786201031	181572	NM_015330.4(SPECC1L):c.3247G>A (p.Gly1083Ser)	SPECC1L	Feb 01, 2015	Gene:8221,MedGen:C1801950,OMIM:145410,Orphanet:ORPHA306588	Opitz G/BBB syndrome	germline	22	24412690	ATGCTGGCTTTCCAGGCAGCTGAAAGTGTCGGCATCAAATCCACACTGGTGAGCCCTTGTC
794728740	196603	NM_001035.2(RYR2):c.5170G>A (p.Glu1724Lys)	RYR2	Apr 27, 2015	MedGen:CN517202	not provided	germline	1	237614298	TATGCCACTGCCAGGCTCATGATGAACAACGAGTACATTGTCCCCATGACGGAGGAGACGA
759922477	481454	NM_020320.4(RARS2):c.1237+1G>A	RARS2	Dec 07, 2017	MedGen:C1969084,OMIM:611523,Orphanet:ORPHA166073	Pontocerebellar hypoplasia type 6	paternal	6	87519582	GGATGCTACAGAACATGGCTTCAATTAAGAGTGAATTCAGTTTTTTCTTATTAAAGTCATA
587779489	106930	NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg)	COL3A1	Feb 10, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188994577	CCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTG
121908182	19528	NM_020451.2(SELENON):c.818G>A (p.Gly273Glu)	SELENON	Sep 01, 2001	MedGen:C0410180,OMIM:602771,SNOMED CT:240063002	Eichsfeld type congenital muscular dystrophy	germline	1	25809096	CCTTTGTGAAGACCCGCTTTGCCCCTCAGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGA
45506401	58406	NM_000548.4(TSC2):c.3131+1G>A	TSC2	Jan 18, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2079197	CTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCC
104894469	28818	NM_006194.3(PAX9):c.151G>A (p.Gly51Ser)	PAX9	Aug 01, 2009	MedGen:C1970291,OMIM:604625	Tooth agenesis, selective, 3	germline	14	36663043	GACATCAGCCGCCAGCTACGGGTCTCGCACGGCTGCGTCAGCAAGATCCTGGCGCGATACA
267606905	29191	NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys)	MYH6	Jul 05, 2005	MedGen:C2750466,OMIM:613252	Dilated cardiomyopathy 1EE	germline	14	23387914	GTGAGCCTTGTCCCCGGGCAGATCCTGGCCGAGTGGAAGCAGAAGTATGAGGAGTCGCAGT
62636275	20778	NM_201253.2(CRB1):c.3307G>A (p.Gly1103Arg)	CRB1	Apr 01, 2016	MedGen:C3151202,OMIM:613835;MedGen:C1838647,OMIM:600105;MedGen:CN517202	Leber congenital amaurosis 8;Retinitis pigmentosa 12;not provided	germline	1	197435170	CTGCAAGGGTGTCTAAGTACAATAGAAATCGGAGGCATTTATCTCTCTTACTTTGAAAATG
137852515	25047	NM_000216.3(ANOS1):c.1540G>A (p.Glu514Lys)	ANOS1	May 01, 1998	MedGen:C1563719,OMIM:308700	Kallmann syndrome 1	germline	X	8536852	CCAATACGGCCAAAAAGTCACTCCAAGGCAGAAGCTGTTTTCTTCACTACTCCACCATGCT
766474188	434282	NM_000527.4(LDLR):c.1187G>A (p.Gly396Asp)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113278	ACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCG
786204986	187596	NM_003159.2(CDKL5):c.464-1G>A	CDKL5	Mar 13, 2014	MedGen:C2748910,Orphanet:ORPHA3095	Atypical Rett syndrome	unknown	X	18584262	AGTTACAACTTTGGACTTTGCTATCTTTCAGGTTTTGCTCGTAATCTGTCAGAAGGCAATA
28999969	27582	NM_001128177.1(THRB):c.994G>A (p.Gly332Arg)	THRB	Jul 20, 2016	MedGen:C2937288,OMIM:188570;MedGen:CN517202	Thyroid hormone resistance, generalized, autosomal dominant;not provided	germline	3	24127649	GACCCAGAAAGTGAGACTTTAACCTTGAATGGGGAAATGGCAGTGACACGGGGCCAGCTGA
137853219	31002	NM_000515.4(GH1):c.59G>A (p.Trp20Ter)	GH1	May 01, 1993	MedGen:C0342573,OMIM:262400,Orphanet:ORPHA231662,SNOMED CT:71003000	Ateleiotic dwarfism	germline	17	63918458	TCCTGGCTTTTGGCCTGCTCTGCCTGCCCTGGCTTCAAGAGGGCAGTGCCTTCCCAACCAT
878853277	237804	NM_001183.5(ATP6AP1):c.1036G>A (p.Glu346Lys)	ATP6AP1	Feb 13, 2017	MedGen:C3151226,OMIM:613860,Orphanet:ORPHA331190	Immunodeficiency due to ficolin 3 deficiency	germline	X	154435338	GCCCGGCACTGGTTTACCATGGAGCGCCTCGAAGTCCACAGCAATGGCTCCGTCGCCTACT
137852247	213664	NM_000133.3(F9):c.835G>A (p.Ala279Thr)	F9	Jul 15, 2014	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139560852	GTTGAAACTGGTGTTAAAATTACAGTTGTCGCAGGTAAATACACAGAAAGAATAATAATCT
794727349	192791	NM_153240.4(NPHP3):c.2994G>A (p.Trp998Ter)	NPHP3	Jan 30, 2015	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006	Adolescent nephronophthisis	germline	3	132688781	CCACCAACTAGCAAGTGTATACGTGCAGTGGAAGAAGTTTGGCAATGCAGAACAACTGTAT
80338862	34124	NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser)	DHCR7	Jul 11, 2017	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71435575	TGGGGCGTGGCCCGCCACTTCAACTACGTCGGCGACCTGATGGGCAGCCTGGCCTACTGCC
1802959	33024	NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)	SERPINA1	Jul 15, 2016	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007;na	Alpha-1-antitrypsin deficiency;PI W(BETHESDA)	germline	14	94378628	TGCTTCTCTCCCCTCCAGGCCGTGCATAAGGCTGTGCTGACCATCGACGAGAAAGGGACTG
-1	471333	NM_006702.4(PNPLA6):c.3389G>A (p.Trp1130Ter)	PNPLA6	Aug 04, 2017	MedGen:C2677586,OMIM:612020,Orphanet:ORPHA139480	Spastic paraplegia 39	germline	19	7558955	GCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGC
193922566	45113	NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr)	LDLR	Apr 11, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;unknown	19	11110766	ACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAGGTGATTCCCGGGTGGGACTGAGCCC
104886460	99352	NM_001005741.2(GBA):c.115+1G>A	GBA	Aug 11, 2016	MedGen:C0268250,OMIM:230900,Orphanet:ORPHA77260,SNOMED CT:12246008;MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Acute neuronopathic Gaucher's disease;Gaucher disease;Gaucher's disease, type 1	germline;unknown	1	155240629	TTCTACTTCAGGCAGTGTCGTGGGCATCAGGTGAGTGAGTCAAGGCAGTGGGGAGGTAGCA
886037631	44198	NM_018475.4(TMEM165):c.910G>A (p.Gly304Arg)	TMEM165	Jul 18, 2012	MedGen:C3553571,OMIM:614727,Orphanet:ORPHA314667	Congenital disorder of glycosylation type 2k	germline	4	55425387	TTTTTTCTCTCTCTTCCAGTGACAATCATAGGAGGCATCGTTTTTTTGGCGTTTGCATTTT
28934576	27405	NM_000546.5(TP53):c.818G>A (p.Arg273His)	TP53	Jul 14, 2017	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0007112;MedGen:C0278701;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;MedGen:C1859972,OMIM:202300;MedGen:C3553606,OMIM:614740;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED CT:372142002;Human Phenotype Ontology:HP:0200022,MedGen:C0205770,OMIM:260500,Orphanet:ORPHA2807,SNOMED CT:18021007;Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;MeSH:D015179,MedGen:CN236642;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2750850,OMIM:137800;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;Gene:553989,MedGen:C1835398,OMIM:151623;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;Gene:257641,MedGen:C2931822,OMIM:607107;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0002669,MeSH:D012516,MedGen:C0029463,OMIM:259500,Orphanet:ORPHA668,SNOMED CT:21708004;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;Human Phenotype Ontology:HP:0030359,MedGen:C0149782;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0011779,MedGen:C0238461,Orphanet:ORPHA142;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C0280630;MedGen:CN517202;MedGen:CN169374	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adrenocortical carcinoma;Adrenocortical carcinoma, hereditary;Basal cell carcinoma, susceptibility to, 7;Brainstem glioma;Carcinoma of colon;Carcinoma of esophagus;Carcinoma of pancreas;Choroid plexus papilloma;Chronic lymphocytic leukemia;Colorectal Neoplasms;Familial cancer of breast;Glioblastoma;Glioma susceptibility 1;Hepatocellular carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Li-Fraumeni syndrome 1;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Multiple myeloma;Nasopharyngeal carcinoma;Neoplasm;Neoplasm of brain;Neoplasm of the breast;Osteosarcoma;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Small cell lung cancer;Squamous cell carcinoma of lung;Squamous cell carcinoma of the head and neck;Thyroid cancer, anaplastic;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;not provided;not specified	germline;somatic;unknown	17	7673802	ATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTGTGCCTGTCCTGGGAGAGACCGGCG
80358997	67062	NM_000059.3(BRCA2):c.7721G>A (p.Trp2574Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32357845	CTGAAGATTATTTTGGTAAGGAAAGTTTATGGACTGGAAAAGGAATACAGTTGGCTGATGG
886041978	361912	NM_003165.3(STXBP1):c.902+1G>A	STXBP1	Sep 09, 2016	MedGen:C2677326,OMIM:612164	Early infantile epileptic encephalopathy 4	germline	9	127668188	GCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAG
202247814	47472	NM_000282.3(PCCA):c.412G>A (p.Ala138Thr)	PCCA	May 17, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	not provided	13	100155090	ATGGAAGCCATTAAGAAAACCAGGGCCCAAGCTGTGAGTCTGAATGAATCTATCTACTGCA
281865128	204408	NM_000530.7(MPZ):c.487G>A (p.Gly163Arg)	MPZ	Apr 05, 2017	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003;MedGen:C0751036,Orphanet:ORPHA65753,SNOMED CT:398040009	Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type I	germline	1	161306426	AGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGC
398124397	102011	NM_024312.4(GNPTAB):c.1298G>A (p.Trp433Ter)	GNPTAB	Aug 28, 2013	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	germline	12	101768147	CTTTGGTTTTATCGTAGGTTTATTTGACATGGCCTGTGCCAAACTGTGCCGAGGGCTGCCC
121434516	19105	NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36930760	GTTCAGATTGCTGGACTTTGTCATGATCTCGGTAAGCTGTACAAAGAGACAAAGTTGTTAT
753861836	267711	NM_003494.3(DYSF):c.5668-7G>A	DYSF	Jul 21, 2017	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;not provided	germline	2	71674190	CTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAG
863225276	214499	NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp)	OPA1	Nov 12, 2015	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009	Dominant hereditary optic atrophy	germline	3	193643434	TACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATGTAAGTATATACAAAACATG
180177154	24979	NM_002764.3(PRPS1):c.916G>A (p.Gly306Arg)	PRPS1	Jan 01, 2010	MedGen:C1844677,OMIM:304500,OMIM:304590	Deafness, X-linked 1	germline	X	107649991	CTTGCAGAAGCCATCAGGAGAACTCACAATGGAGAATCCGTTTCTTACCTATTCAGCCATG
886044295	274106	NM_001080522.2(CC2D2A):c.4179+1G>A	CC2D2A	Aug 03, 2016	MedGen:C2676788,OMIM:612285;MedGen:C2676790,OMIM:612284	Joubert syndrome 9;Meckel syndrome type 6	germline	4	15587930	TGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGG
886039564	259689	NM_022336.3(EDAR):c.1073G>A (p.Arg358Gln)	EDAR	Aug 16, 2016	MedGen:CN517202	not provided	germline	2	108897181	TGCCATTTGATTGCCTCGAGAAGACTAGCCGAATGCTCAGCTCCACGTACAACTCTGAGAA
104886361	35896	NM_000495.4(COL4A5):c.2705G>A (p.Gly902Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108621830	AAGGTACCAAAGGTGAAATGGGTATGATGGGACCTCCAGGCCCACCAGGACCTTTGGGAAT
80357239	70101	NM_007294.3(BRCA1):c.5154G>A (p.Trp1718Ter)	BRCA1	Jan 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	germline	17	43063372	GTAACCTGTCTTTTCTATGATCTCTTTAGGGGTGACCCAGTCTATTAAAGAAAGAAAAATG
104893986	17497	NM_000434.3(NEU1):c.69G>A (p.Trp23Ter)	NEU1	Jan 01, 2004	MedGen:C0268226,OMIM:256550	Sialidosis, type II	germline	6	31862708	ACGCTGGGGGCCGCGGATTCTGGGCTTCTGGGGAGGCTGTAGGGTTTGGGTGTTTGCCGCG
121912973	31999	NM_000394.3(CRYAA):c.347G>A (p.Arg116His)	CRYAA	Jul 16, 2015	MedGen:C1858679,OMIM:604219;MedGen:CN071376;MedGen:CN517202	Cataract, autosomal dominant;Cataract, autosomal dominant, multiple types, with microcornea;not provided	germline	21	43172105	ACCACGGCTACATTTCCCGTGAGTTCCACCGCCGCTACCGCCTGCCGTCCAACGTGGACCA
121908001	18905	NM_000053.3(ATP7B):c.2071G>A (p.Gly691Arg)	ATP7B	Sep 24, 2014	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline;unknown	13	51960198	TCCATGGTCCTGGACCACAACATCATTCCAGGACTGTCCATTCTAAATCTCATCTTCTTTA
397516444	224955	NM_000551.3(VHL):c.485G>A (p.Cys162Tyr)	VHL	Feb 26, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10149808	CCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCC
121917985	79472	NM_006920.4(SCN1A):c.715G>A (p.Ala239Thr)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo;unknown	2	166051968	TTTCTTTCAGGCCTGAAAACCATTGTGGGAGCCCTGATCCAGTCTGTGAAGAAGCTCTCAG
-1	446872	NM_001142966.2(GREB1L):c.5068G>A (p.Val1690Met)	GREB1L	Dec 18, 2017	MedGen:CN703737,OMIM:617805	RENAL HYPODYSPLASIA/APLASIA 3	germline	18	21515583	AGCCTAAAGGCCCCATTCTCTAGGTGTCACGTGCATGATTTCATTCTCCTCAACACAGACT
1057518898	360924	NM_001080463.1(DYNC2H1):c.10482+1G>A	DYNC2H1	Jul 02, 2015	Human Phenotype Ontology:HP:0006487,MedGen:C1855340;Human Phenotype Ontology:HP:0001511,MedGen:C1386048;Human Phenotype Ontology:HP:0000774,MedGen:C0426790	Bowing of the long bones;Intrauterine growth retardation;Narrow chest	unknown	11	103256241	TCTTACAAACTCCAAATTTCCCTTGATCAAGTAATTATTTCCTTCTTTGTAATTTCGTATT
267606621	23505	NM_001605.2(AARS):c.986G>A (p.Arg329His)	AARS	Aug 18, 2015	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:CN043576;MedGen:C2750090,OMIM:613287,Orphanet:ORPHA228174	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2N	germline;paternal	16	70268356	CTTACAGATATGTGTTGAGACGGATTCTCCGCCGAGCTGTCCGATACGCCCATGAAAAGCT
80338735	33917	NM_000156.5(GAMT):c.327G>A (p.Lys109=)	GAMT	Mar 01, 2017	MedGen:C0574080,OMIM:612736,Orphanet:ORPHA382,SNOMED CT:124239003;MedGen:CN517202	Deficiency of guanidinoacetate methyltransferase;not provided	germline	19	1399793	CCGGGACTGGGCCCCACGGCAGACACACAAGGTGCCCCTCTGCCCGCAGGCCCTCCAGGAC
863223306	31011	NM_000515.4(GH1):c.291+28G>A	GH1	Jun 01, 1997	MedGen:C0271567,OMIM:173100,Orphanet:ORPHA231679,SNOMED CT:237687003	Autosomal dominant isolated somatotropin deficiency	germline	17	63917989	TCCGTGAGTGGATGCCTTCTCCCCAGGCGGGGATGGGGGAGACCTGTAGTCAGAGCCCCCG
878855328	243900	NM_004958.3(MTOR):c.6981G>A (p.Met2327Ile)	MTOR	Apr 11, 2017	MedGen:C4225259,OMIM:616638,Orphanet:ORPHA457485	Smith-Kingsmore syndrome	de novo;germline	1	11117039	AACCAATTATACCCGTTCTTTAGCGGTCATGTCAATGGTTGGGTATATTTTAGGCCTGGGA
-1	442605	NM_024408.3(NOTCH2):c.6758G>A (p.Trp2253Ter)	NOTCH2	Sep 12, 2017	MedGen:CN517202	not provided	germline	1	119915964	GGCTCCATCCAGTCCCAGTCCCAGCAGATTGGATGAACCGCATGGAGGTGAATGAGACCCA
267607940	95994	NM_000251.2(MSH2):c.1076+1G>A	MSH2	Jan 21, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	germline	2	47416430	TCTCATGGATAAGAACAGAATAGAGGAGAGGTATGTTATTAGTTTATACTTTCGTTAGTTT
104893947	17429	NM_000045.3(ARG1):c.365G>A (p.Trp122Ter)	ARG1	Jun 18, 2015	MedGen:C0268548,OMIM:207800,Orphanet:ORPHA90,SNOMED CT:23501004;MedGen:CN517202	Arginase deficiency;not provided	germline	6	131581278	CCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCC
762060470	361391	NM_000520.5(HEXA):c.459+5G>A	HEXA	Feb 28, 2017	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:CN517202	Tay-Sachs disease;not provided	germline;unknown	15	72353686	TTGTTTGGAAATCTGCTGAGGGCACAGTAAGTGTGGACCCTCAAAAAGGGCTCCTTTTTCA
-1	485771	NM_000267.3(NF1):c.2511G>A (p.Trp837Ter)	NF1	Dec 30, 2015	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31229126	TTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTT
121908571	21202	NM_004328.4(BCS1L):c.830G>A (p.Ser277Asn)	BCS1L	Sep 01, 2001	MedGen:C1852372,OMIM:124000	Mitochondrial complex III deficiency	germline	2	218662620	ACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGC
863224040	211117	NM_012208.3(HARS2):c.633+1G>A	HARS2	May 16, 2014	MedGen:CN517202	not provided	germline	5	140695846	GGATTGCAGTTGGGAGACTTTCTCATTAAGGTGAGGCCAGGGCTGAGAACTGTGGGAGAAG
137853166	25592	NM_000351.5(STS):c.1337G>A (p.Cys446Tyr)	STS	Aug 15, 1997	MedGen:C0079588,OMIM:308100,Orphanet:ORPHA281210,SNOMED CT:72523005	X-linked ichthyosis with steryl-sulfatase deficiency	germline	X	7334066	GCTCCGATCATGAGTTTCTCTTCCATTACTGCAACGCCTACTTAAATGCTGTGCGCTGGCA
942375725	410886	NM_000211.4(ITGB2):c.2013G>A (p.Trp671Ter)	ITGB2	Aug 28, 2015	MedGen:CN517202	not provided	germline	21	44888760	CTGCAAGGAGAGGGACTCAGAGGGCTGCTGGGTGGCCTACACGCTGGAGCAGCAGGACGGG
62514959	15618	NM_000277.2(PAH):c.977G>A (p.Trp326Ter)	PAH	Nov 01, 1989	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102844424	CTCAGATTGACTTTCCATTCCAGATTTACTGGTTTACTGTGGAGTTTGGGCTCTGCAAACA
875989929	246306	NM_000527.4(LDLR):c.1735G>A (p.Asp579Asn)	LDLR	Jun 09, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116888	GATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCG
62508588	15630	NM_000277.2(PAH):c.728G>A (p.Arg243Gln)	PAH	May 04, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102852929	TCATCCCAGCTTGCACTGGTTTCCGCCTCCGACCTGTGGCTGGCCTGCTTTCCTCTCGGGA
1057518798	360805	NM_000309.4(PPOX):c.1281G>A (p.Trp427Ter)	PPOX	Mar 22, 2016	Human Phenotype Ontology:HP:0011848,MedGen:C0232488;Human Phenotype Ontology:HP:0008066,MedGen:C0241054;Human Phenotype Ontology:HP:0010473,MedGen:C0151861	Abdominal colic;Abnormal blistering of the skin;Porphyrinuria	unknown	1	161170939	CTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTG
886041506	264246	NM_001135243.1(TCOF1):c.1278+1G>A	TCOF1	Jan 21, 2016	MedGen:CN517202	not provided	germline	5	150374812	TCGGACAGTGAGGAGGAGGCGCCTGCTCAGGTGAGGCAGAGGGGAGGGGTGGAGAGTAGCC
121912880	192903	NM_001844.4(COL2A1):c.1510G>A (p.Gly504Ser)	COL2A1	Feb 04, 2015	Human Phenotype Ontology:HP:0002655,MedGen:C0038015,OMIM:183900,Orphanet:ORPHA253;Human Phenotype Ontology:HP:0002657,MedGen:C0700635,OMIM:184250,Orphanet:ORPHA93346;MedGen:C2020284,OMIM:108300	Spondyloepiphyseal dysplasia congenita;Spondylometaphyseal dysplasia;Stickler syndrome type 1	germline	12	47986353	CGTGGAGAGCCTGGTGGCGTTGGGCCCATCGGTCCCCCTGGAGAAAGAGTTAAGTGAATGT
-1	443669	NM_001999.3(FBN2):c.4222+5G>A	FBN2	Jul 12, 2017	MedGen:CN517202	not provided	germline	5	128332907	GATTGGAAACGGCATCAAGTGTATTGGTGAGTTTGCAAATGTAAATATCCTTTGCTAAGGC
-1	481708	NM_001003694.1(BRPF1):c.3G>A (p.Met1Ile)	BRPF1	Nov 02, 2017	MedGen:CN517202	not provided	germline	3	9734143	CTGATCTGTGTATTCTAGATGTGACAGCATGGGGGTGGACTTTGATGTGAAGACTTTCTGC
137852317	25410	NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD SANTIAGO DE CUBA	germline	X	154532411	TATGAGCGCCTCATCCTGGACGTCTTCTGCGGGAGCCAGATGCACTTCGTGCGCAGGTGAG
104894641	20148	NM_000199.3(SGSH):c.1298G>A (p.Arg433Gln)	SGSH	Dec 03, 2013	MedGen:C0086647,OMIM:252900,Orphanet:ORPHA79269,SNOMED CT:41572006	Mucopolysaccharidosis, MPS-III-A	germline	17	80210663	GGTACAAGGACCTCCGTCATTACTACTACCGGGCGCGCTGGGAGCTCTACGACCGGAGCCG
140627	197683	NM_000138.4(FBN1):c.5015G>A (p.Cys1672Tyr)	FBN1	Sep 02, 2014	MedGen:CN517202	not provided	germline	15	48463949	CATGTTACAACACCGTTGGCAACTACACCTGTATCTGTCCTCCAGACTACATGCAAGTGAA
146015592	46845	NM_000060.4(BTD):c.470G>A (p.Arg157His)	BTD	May 25, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:CN517202	Biotinidase deficiency;Biotinidase deficiency;Biotinidase deficiency;not provided	germline;unknown	3	15644326	TACACCTTTTTTTCCTCTAGGTGCTCCAGCGCCTGAGTTGTATGGCCATCAGGGGAGATAT
797045177	205703	NM_001376.4(DYNC1H1):c.926G>A (p.Arg309His)	DYNC1H1	Feb 09, 2016	MedGen:C3281202,OMIM:614563;MedGen:CN517202	Mental retardation, autosomal dominant 13;not provided	de novo;germline	14	101980515	TGACTCTGGATATCTTGAAACATGGCAAGCGCTTCCATGCCACCGTCAGTTTTGACACTGA
121912632	20031	NM_021625.4(TRPV4):c.1847G>A (p.Arg616Gln)	TRPV4	Apr 02, 2014	MedGen:C0432227,OMIM:113500,Orphanet:ORPHA93304,SNOMED CT:254087001;Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Brachyrachia (short spine dysplasia);Skeletal dysplasia	germline	12	109792407	GTCTTTAGATTCTCTTCAAGGACCTTTTCCGATTCCTGCTCGTCTACTTGCTCTTCATGAT
879254022	245172	NM_000169.2(GLA):c.707G>A (p.Trp236Ter)	GLA	Sep 24, 2015	MedGen:CN517202	not provided	germline	X	101398879	GGCGAAATTTTGCTGACATTGATGATTCCTGGAAAAGTATAAAGAGTATCTTGGACTGGAC
267607819	95093	NM_000249.3(MLH1):c.1039-1G>A	MLH1	May 17, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	3	37025636	ATATTTTTTTTTTTTTTTTTTTTTAATACAGACTTTGCTACCAGGACTTGCTGGCCCCTCT
66612022	457703	NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser)	COL1A2	Oct 10, 2016	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94409768	GCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTG
74452732	31073	NM_000406.2(GNRHR):c.511G>A (p.Ala171Thr)	GNRHR	Apr 01, 2003	Human Phenotype Ontology:HP:0000044,MedGen:C0271623,OMIM:146110,Orphanet:ORPHA181387,SNOMED CT:33927004	Hypogonadotropic hypogonadism 7 with or without anosmia	germline	4	67753825	GGCCTGGCCTGGATCCTCAGTAGTGTCTTTGCAGGACCACAGGTAAGCCATTATACACAAA
66500027	103189	NM_000531.5(OTC):c.717+1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38408796	ACCAAGTTGGCAGAGCAGTATGCCAAAGAGGTATGCTCTTTACATGTAAAGCTATTATTGC
886042641	267734	NM_001130987.1(DYSF):c.159G>A (p.Trp53Ter)	DYSF	Oct 06, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71481890	TTTTCTCTTTTTCTTCCAGGGATTTGAATGGGACCTCAAGGGCATCCCCCTGGACCAGGGC
104894846	25802	NM_000169.2(GLA):c.888G>A (p.Met296Ile)	GLA	Aug 03, 1995	MedGen:C1970820	Fabry disease, cardiac variant	germline	X	101398481	CTGGGCTATCATGGCTGCTCCTTTATTCATGTCTAATGACCTCCGACACATCAGCCCTCAA
797045398	209299	NM_000052.6(ATP7A):c.4226+5G>A	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78045577	GTACTTTCTTCTCTCTTCCTTAAACTGTAAGTATGATAGCTTGCTCACATTTGTATTTTGT
137853265	25869	NM_004463.2(FGD1):c.1223G>A (p.Arg408Gln)	FGD1	May 15, 2005	MedGen:C0175701,OMIM:305400,SNOMED CT:14921002	Aarskog syndrome	germline	X	54467901	TGTTCTGTGCCCGGCTGCTGGAAGAAGCTCGGAACCGCAGTTCCTTCCCGGCCGACGTTGT
121964960	27054	NM_000532.4(PCCB):c.502G>A (p.Glu168Lys)	PCCB	Feb 20, 2014	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136262024	CTGAATGACTCTGGGGGAGCACGGATCCAAGAAGGAGTGGAGTCTTTGGCTGGCTATGCAG
104894155	16843	NM_000102.3(CYP17A1):c.1247G>A (p.Arg416His)	CYP17A1	Oct 01, 2006	MedGen:CN042980	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency	germline	10	102830982	CTGGCTGATGCCACTCCTTGCCTGCAGAGCGTTTCTTGAATCCAGCGGGGACCCAGCTCAT
104894839	25775	NM_000169.2(GLA):c.861G>A (p.Trp287Ter)	GLA	Jul 01, 1993	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398508	GAATCAGCAAGTAACTCAGATGGCCCTCTGGGCTATCATGGCTGCTCCTTTATTCATGTCT
397514547	48210	NM_001101426.3(ISPD):c.466G>A (p.Asp156Asn)	ISPD	Jan 30, 2013	MedGen:C3553330,OMIM:614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	germline	7	16406129	CTCTCTAAGCCAGAAGTAGTGATTATCCATGATGCTGTGAGACCATTTGTTGAGGAAGGTG
886041021	263149	NM_006087.3(TUBB4A):c.1172G>A (p.Arg391His)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495327	TCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCTTGCACTGGTACACGGGCGA
199476130	24659	m.5703G>A	MT-TN	Jan 01, 2003	MedGen:C4016605	Ophthalmoplegia, isolated	germline	MT	5703	TAAACCCACAAACACTTAGTTAACAGCTAAGCACCCTAATCAACTGGCTTCAATCTACTTC
398123353	98813	NM_000404.3(GLB1):c.397-1G>A	GLB1	Nov 01, 2012	MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002;MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	germline	3	33068291	ACATTATAATGGCTTGTTTTCCCTGAACTAGGGAGGATTACCTGCTTGGCTGCTAGAGAAA
397516013	51871	NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter)	MYBPC3	Mar 26, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy	germline	11	47333231	CACCCCAGGATGTCGGCAACACGGAGCTCTGGGGGTACACAGTGCAGAAAGCCGACAAGAA
104886378	35925	NM_000495.4(COL4A5):c.3017-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108625704	TGTCTTAATTTTACCAATTTGACCTTTCTAGGTCCCAAAGGTAACCCTGGTCTCCCTGGAC
201992075	260978	NM_001273.3(CHD4):c.4822G>A (p.Val1608Ile)	CHD4	Jan 24, 2017	MedGen:C4310688,OMIM:617159	Sifrim-Hitz-Weiss syndrome	germline	12	6581131	CCTGCCCCTGCCTCAGAGGATGAAAAGGTCGTTGTTGAACCCCCTGAGGGAGAGGAGAAAG
372946560	214746	NM_002528.6(NTHL1):c.709+1G>A	NTHL1	Nov 12, 2015	MedGen:C4225157,OMIM:616415,Orphanet:ORPHA454840	Familial adenomatous polyposis 3	unknown	16	2043566	CTGTGGCCTGGGGCACTGTGTCAGGCATTGGTGAGTAGAGGAGGGCGGGGCTGGCTCCAGC
398122523	94574	NM_006420.2(ARFGEF2):c.1958+1G>A	ARFGEF2	Nov 01, 2013	MedGen:C1842563,OMIM:608097	Heterotopia, periventricular, autosomal recessive	germline	20	48976200	AAAAGAAATCATTGAACACGGCATCGAGCTGTGAGTGGGGCTGCCGTTAACTAGCAGGGAT
121913639	29145	NM_000257.3(MYH7):c.2803G>A (p.Glu935Lys)	MYH7	Apr 15, 1994	MedGen:C3495498,OMIM:192600	Familial hypertrophic cardiomyopathy 1	germline	14	23424026	AGGCTGGAGGATGAGGAGGAGATGAATGCTGAGCTCACTGCCAAGAAGCGCAAGCTGGAAG
104894598	39752	NM_000263.3(NAGLU):c.1694G>A (p.Arg565Gln)	NAGLU	Sep 28, 2016	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008;MedGen:C0026706,SNOMED CT:88393000;MedGen:CN517202	Mucopolysaccharidosis, MPS-III-B;Sanfilippo syndrome;not provided	germline	17	42543700	CCTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTA
267607995	96343	NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg)	MSH2	Jul 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not specified	germline;unknown	2	47476408	GGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGT
587784160	481735	NM_022455.4(NSD1):c.5862G>A (p.Trp1954Ter)	NSD1	Dec 04, 2017	MedGen:CN517202	not provided	germline	5	177280804	TGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAG
118204100	16492	NM_000190.3(HMBS):c.593G>A (p.Trp198Ter)	HMBS	Dec 01, 1991	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119091507	TGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGC
193922609	224915	NM_000551.3(VHL):c.320G>A (p.Arg107His)	VHL	Feb 26, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	germline	3	10142167	CCTACCCAACGCTGCCGCCTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCC
397515508	76427	m.3700G>A	MT-ND1	Mar 21, 2016	Human Phenotype Ontology:HP:0000512,MedGen:C1849688;Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003;Human Phenotype Ontology:HP:0001138,MedGen:C3887709;Human Phenotype Ontology:HP:0000572,MedGen:C3665386	Abnormal electroretinogram;Leber's optic atrophy;Optic neuropathy;Visual loss	unknown	MT	3700	GCATCAAACTCAAACTACGCCCTGATCGGCGCACTGCGAGCAGTAGCCCAAACAATCTCAT
121908946	21783	NM_006892.3(DNMT3B):c.2519G>A (p.Arg840Gln)	DNMT3B	Sep 15, 2002	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	germline	20	32807860	TGGGAAGGTCCTGGAGCGTGCCTGTCATCCGACACCTCTTCGCCCCTCTGAAGGACTACTT
397515432	48563	NM_018972.2(GDAP1):c.980G>A (p.Gly327Asp)	GDAP1	Feb 19, 2013	MedGen:C1842197,OMIM:608340,Orphanet:ORPHA217055	Charcot-Marie-Tooth disease, recessive intermediate A	germline	8	74364270	CAAAAGTTCTTGGCACGACCCTTGTGGTTGGTTTGCTTGCAGGAGTGGGATATTTTGCTTT
876657692	230991	NM_133261.2(GIPC3):c.411+1G>A	GIPC3	Aug 11, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	19	3586681	GACAACGGGGCTGGCTACGCCTTCATCAAGGTGCCCGGGAGGGGGTGGGCGGGTGGCTTCC
28934582	27294	NM_003361.3(UMOD):c.443G>A (p.Cys148Tyr)	UMOD	Dec 01, 2002	MedGen:C0268113,OMIM:162000,Orphanet:ORPHA209886,SNOMED CT:46785007	Familial juvenile gout	germline	16	20348858	CCGCGGGCTACCGGGGGGATGGATGGCACTGTGAGTGCTCCCCGGGCTCCTGCGGGCCGGG
104894972	24794	NM_003140.2(SRY):c.284G>A (p.Gly95Glu)	SRY	Jun 01, 2000	MedGen:C2748896,OMIM:400044	46,XY sex reversal, type 1	germline	Y	2787320	TGCGAAACTCAGAGATCAGCAAGCAGCTGGGATACCAGTGGAAAATGCTTACTGAAGCCGA
72645321	414022	NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg)	COL1A1	Aug 16, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:CN517202	Osteogenesis imperfecta type I;not provided	germline;unknown	17	50197045	ATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGAC
1131692063	424207	NC_012920.1:m.13051G>A	MT-ND5	May 22, 2017	MedGen:C0751651,Orphanet:ORPHA68380	Mitochondrial diseases	germline	MT	13051	CTCCACCCCTGACTCCCCTCAGCCATAGAAGGCCCCACCCCAGTCTCAGCCCTACTCCACT
118204110	16506	NM_000190.3(HMBS):c.667G>A (p.Glu223Lys)	HMBS	Jan 01, 1994	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119092419	ATGTTTTTCCATCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGG
137852799	33416	NM_001039523.2(CHRNA1):c.601G>A (p.Val201Met)	CHRNA1	May 01, 1997	MedGen:C0751885,OMIM:601462	Myasthenic syndrome, slow-channel congenital	germline	2	174754233	CTGGGCACCTGGACCTACGACGGCTCTGTCGTGGCCATCAACCCGGTAGGTGGTGGCCACA
28936407	23174	NM_138712.3(PPARG):c.863G>A (p.Arg288His)	PPARG	Jun 01, 1999	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	Carcinoma of colon	somatic	3	12416831	CCATCCGCATCTTTCAGGGCTGCCAGTTTCGCTCCGTGGAGGCTGTGCAGGAGATCACAGA
370384522	227439	NM_031942.4(CDCA7):c.1058G>A (p.Arg353His)	CDCA7	Jun 10, 2011	MedGen:C4310799,OMIM:616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	germline	2	173366305	ATTTGTAGGGCTCTACTTGTCATCAATGCCGTCAGAAGACTATTGATACCAAAACAAACTG
58645163	409921	NM_000526.4(KRT14):c.1163G>A (p.Arg388His)	KRT14	Sep 06, 2015	MedGen:CN517202	not provided	germline	17	41583346	GCAGCGTGGAGGAGCAGCTGGCCCAGCTCCGCTGCGAGATGGAGCAGCAGAACCAGGAGTA
-1	488065	NM_000487.5(ARSA):c.960G>A (p.Trp320Ter)	ARSA	Mar 09, 2017	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004	Metachromatic leukodystrophy	germline	22	50626173	CGGTGTCCGAGAGCCTGCCTTGGCCTTCTGGCCAGGTCATATCGCTCCCGGTCAGTCCGCA
797044774	195560	NM_000169.2(GLA):c.1072G>A (p.Glu358Lys)	GLA	Aug 12, 2014	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398027	GCCTGGGCTGTAGCTATGATAAACCGGCAGGAGATTGGTGGACCTCGCTCTTATACCATCG
-1	481390	NM_021629.3(GNB4):c.229G>A (p.Gly77Arg)	GNB4	Dec 13, 2017	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	Charcot-Marie-Tooth disease, dominant intermediate F	de novo	3	179416531	TCTAGGCTGCTAGTCAGTGCTTCTCAAGATGGAAAATTAATTATTTGGGATAGCTATACAA
120074130	18001	NM_000271.4(NPC1):c.2665G>A (p.Val889Met)	NPC1	Jul 01, 1999	MedGen:CN068592	Niemann-Pick disease, type C1, adult form	germline	18	23539941	ATCAGTCAGTACCTGCATGCGGGTCCGCCTGTGTACTTTGTCCTGGAGGAAGGGCACGACT
104886488	65621	NM_001142459.1(ASB10):c.215G>A (p.Arg72His)	ASB10	Mar 15, 2012	MedGen:C1863926,OMIM:603383	Glaucoma 1, open angle, F	germline	7	151186916	TGCTGGCTGGGGACGTGGGCTGTGTCTCCCGCATCCTCGCGGACTCCAGTACTGGCCTGGC
869312731	225893	NM_017671.4(FERMT1):c.1848G>A (p.Trp616Ter)	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6079448	CACAAATATCAAACAGTGGAATGTAAACTGGGAAACCCGGCAGGTAAAGTGAAAGTTTTTG
267606796	31463	NM_000138.4(FBN1):c.8268G>A (p.Trp2756Ter)	FBN1	Jul 01, 1992	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48411338	GACAGAAGCCAATGTGAGTCTTGCAAGTTGGGATGTTGAGAAGACAGCCATCTTTGCTTTC
730880870	179653	NM_000257.3(MYH7):c.1325G>A (p.Arg442His)	MYH7	Oct 18, 2013	MedGen:CN517202	not provided	germline	14	23429037	ATGAGAGGATGTTCAACTGGATGGTGACGCGCATCAATGCCACCCTGGAGACCAAGCAGCC
765249238	227251	NM_005630.2(SLCO2A1):c.940+1G>A	SLCO2A1	Mar 18, 2016	MedGen:C3280800,OMIM:614441	Primary hypertrophic osteoarthropathy, autosomal recessive 2	germline	3	133948892	CAAGAGGCTCCCTGGTGGATTTCATTAAACGTAACTGACCCTACAGCCCTGGGTGGGCTGG
398123391	98902	NM_000426.3(LAMA2):c.9212-1G>A	LAMA2	Nov 01, 2012	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129516189	AAGCTGAGCCCTCTTGCATTGCCTTTTTCAGATGACCTCAAGCAGTTTGGCCTAACAACCA
267606973	25740	NM_203473.2(PORCN):c.178G>A (p.Gly60Arg)	PORCN	Jul 01, 2007	MedGen:C0016395,OMIM:305600,Orphanet:ORPHA2092	Focal dermal hypoplasia	germline	X	48511336	TACCTGAAGCATGCAAGCACCGTGGCAGGCGGGTTCTTCAGCCTCTACCACTTCTTCCAGC
9332971	24862	NM_000044.4(AR):c.2567G>A (p.Arg856His)	AR	Dec 16, 2016	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:C1839259,OMIM:313200,Orphanet:ORPHA481;MedGen:C0268301,OMIM:312300,Orphanet:ORPHA90797,SNOMED CT:58672003	Androgen resistance syndrome;Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;Partial androgen insensitivity syndrome	germline	X	67722944	AAAGAAAAAATCCCACATCCTGCTCAAGACGCTTCTACCAGCTCACCAAGCTCCTGGACTC
-1	481158	NM_024887.3(DHDDS):c.632G>A (p.Arg211Gln)	DHDDS	Jan 24, 2018	MedGen:CN769090,OMIM:617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	germline	1	26457880	ACATCTTGATACGGACTTCTGGAGAAGTGCGGCTGAGTGACTTCTTGCTATGGCAGGTAGG
869312868	226651	NM_000834.3(GRIN2B):c.2065G>A (p.Gly689Ser)	GRIN2B	Oct 31, 2017	MedGen:C3151411,OMIM:613970;MedGen:CN517202	Mental retardation, autosomal dominant 6;not provided	de novo;germline	12	13571910	CCCCCTTTCCGCTTTGGGACCGTGCCCAACGGCAGCACAGAGAGAAATATTCGCAATAACT
121918147	15702	NM_000312.3(PROC):c.1027G>A (p.Gly343Ser)	PROC	Mar 21, 1992	MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127428587	GCCGGCCAGGAGACCCTCGTGACGGGCTGGGGCTACCACAGCAGCCGAGAGAAGGAGGCCA
369915689	106811	NM_006077.3(MICU1):c.741+1G>A	MICU1	Feb 01, 2014	MedGen:C3810285,OMIM:615673,Orphanet:ORPHA401768	Myopathy with extrapyramidal signs	germline	10	72477173	GGAGAAGTAGATATGGAAGAATTTGAACAGGCAAGTTGTCCTGGAGAGTTCCTCTAAATAC
281874690	35846	NM_000495.4(COL4A5):c.2305G>A (p.Gly769Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108606802	CCTGGGCCACCAGGACTTCCAGGTTTCAAAGGAGCACTTGGTCCAAAAGGTGATCGTGGTT
786200868	16419	NM_153704.5(TMEM67):c.312+5G>A	TMEM67	Feb 01, 2009	MedGen:C1857662,OMIM:216360,Orphanet:ORPHA1454	COACH syndrome	germline	8	93755871	TTTGTAAAAAGTGCCCAGAAAACATGGTGCGCATAATTTATTTTAAAATAACTTACCTGTA
132630277	26144	NM_000116.4(TAZ):c.589G>A (p.Gly197Arg)	TAZ	Oct 01, 2010	MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED CT:297231002	3-Methylglutaconic aciduria type 2	germline	X	154420037	ACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACC
794727397	193020	NM_000495.4(COL4A5):c.1844G>A (p.Gly615Glu)	COL4A5	Nov 21, 2014	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	germline	X	108598766	CTGGGAACCCAGGTTTACCAGGCCTCCCAGGGAATATAGGGCCTATGGGTCCCCCTGGTTT
113994054	20985	NM_003907.2(EIF2B5):c.584G>A (p.Arg195His)	EIF2B5	Oct 01, 2002	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	3	184137975	TCAAGGAGTCATCCCCCAGCCACCCAACTCGTTGCCACGAAGACAATGTGGTAGTGGCTGT
118204056	16558	NM_000237.2(LPL):c.607G>A (p.Ala203Thr)	LPL	May 01, 1990	MedGen:C0023817,OMIM:238600,Orphanet:ORPHA309015,SNOMED CT:238086005,SNOMED CT:275598004	Hyperlipoproteinemia, type I	germline	8	19954185	GAAGCCCCGAGTCGTCTTTCTCCTGATGATGCAGATTTTGTAGACGTCTTACACACATTCA
119468006	18678	NM_020247.4(COQ8A):c.815G>A (p.Gly272Asp)	COQ8A	Jun 07, 2016	MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485	Coenzyme Q10 deficiency, primary, 4	germline	1	226982111	GGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAGCTGGGCCAGATGCTGAG
104894254	24199	NM_153767.3(KCNJ1):c.443G>A (p.Gly148Glu)	KCNJ1	Jan 01, 1997	MedGen:C1855849,OMIM:241200	Bartter syndrome, type 2, antenatal	germline	11	128839801	TTTTTCTGCTTATCTTTCAGTCTATACTTGGAGTTATAATCAATTCTTTCATGTGTGGGGC
121913156	29747	NM_000208.3(INSR):c.3602G>A (p.Arg1201Gln)	INSR	Jun 01, 2004	MedGen:C1864952,OMIM:609968,Orphanet:ORPHA263458;MedGen:C0271690,OMIM:610549,SNOMED CT:9859006	Hyperinsulinemic hypoglycemia familial 5;Insulin-resistant diabetes mellitus AND acanthosis nigricans	germline	19	7120677	GGAAAGGGGGCAAGGGTCTGCTCCCTGTACGGTGGATGGCACCGGAGTCCCTGAAGGATGG
121912844	32489	NM_000094.3(COL7A1):c.6100G>A (p.Gly2034Arg)	COL7A1	Nov 24, 2016	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568;MedGen:CN517202	Generalized dominant dystrophic epidermolysis bullosa;not provided	germline	3	48575419	AGGGGCCCCCCCGGGCCTTCCGGCCTTGCCGGGGAGCCTGGAAAGCCTGGTATTCCCGGGC
267607854	95333	NM_000249.3(MLH1):c.1732-1G>A	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37047518	CTTGCTCCTTCATGTTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATG
267607268	46922	NM_002437.4(MPV17):c.70+5G>A	MPV17	May 17, 2012	MedGen:C1850406,OMIM:256810,Orphanet:ORPHA255229	Navajo neurohepatopathy	not provided	2	27322443	GTGGAAAGTACAGGTCCTGACAGCTGGTGAGTGTCCCTCTAGGACTTGAGTGGGACCAGGG
779760634	195726	NM_015404.3(WHRN):c.1417-1G>A	WHRN	Aug 19, 2014	MedGen:C1846839,OMIM:607084	Deafness, autosomal recessive 31	germline	9	114423524	TGCTGAGTGCCCCTTTTGTCCCCGCCTCCAGTTCTCACTCCTCTCTGAGGTGAGAGGCACC
557172581	414327	NM_001204.6(BMPR2):c.1687G>A (p.Val563Met)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202555352	GAAGACTCTATCCATCATACTGACAGCATCGTGAAGAATATTTCCTCTGAGCATTCTATGT
-1	443480	NM_000094.3(COL7A1):c.4011+1G>A	COL7A1	Jan 07, 2016	MedGen:CN517202	not provided	germline	3	48584909	CCAGGGTTGCCTGGCCCTCGTGGGGACCCGGTAAGGTGCCTTCCCTTCTTTGCTCTCTAAG
587779693	107200	NM_000090.3(COL3A1):c.1556G>A (p.Gly519Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188995738	GTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGT
121964992	27010	NM_000108.4(DLD):c.1123G>A (p.Glu375Lys)	DLD	Mar 30, 2017	MedGen:CN043137,OMIM:246900;MedGen:CN517202	Maple syrup urine disease, type 3;not provided	germline;unknown	7	107917349	AAAGCAGAGGATGAAGGCATTATCTGTGTTGAAGGAATGGCTGGTGGTGCTGTGCACATTG
80356524	19279	NM_025136.3(OPA3):c.277G>A (p.Gly93Ser)	OPA3	Mar 31, 2009	MedGen:C1833809,OMIM:165300,Orphanet:ORPHA67036	Optic atrophy and cataract, autosomal dominant	germline	19	45553777	CTGCTGGGCGAAGCCACCATCTTCATCGTGGGCGGCGGCTGCCTAGTGCTGGAGTACTGGC
863223406	210236	NM_000020.2(ACVRL1):c.1377+1G>A	ACVRL1	Apr 22, 2015	MedGen:CN517202	not provided	germline	12	51919116	ACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTG
1064793908	406321	NM_000094.3(COL7A1):c.6900+1G>A	COL7A1	Aug 16, 2015	MedGen:CN517202	not provided	germline	3	48572670	GAACCTGGCCCCACGGGGGCCCCTGGACAGGTGATCTTTGACCCTGACTTCCACCCCCTGC
886043635	271675	NM_004006.2(DMD):c.3747G>A (p.Trp1249Ter)	DMD	Apr 19, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32448495	ACTTGAAACTCTAACCACCAACTACCAGTGGCTCTGCACTAGGCTGAATGGGAAATGCAAG
1064794027	411460	NM_000206.2(IL2RG):c.545G>A (p.Cys182Tyr)	IL2RG	Aug 07, 2015	MedGen:CN517202	not provided	germline	X	71110205	TGAACTGGAACAACAGATTCTTGAACCACTGTTTGGAGCACTTGGTGCAGTACCGGACTGA
886039245	259331	NM_001242896.1(DEPDC5):c.193+1G>A	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31760703	TCAAGTCTCTTAAGGAAGATTTACAGAAGGGTAAGAATTATATCACTCTTCTTAGAATTTT
863225137	214249	NM_001134831.1(AHI1):c.1626+1G>A	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135448289	ACTGTAAGAGGACTGAAAGTTCCAGACTGTGTAAGTTAATAGTACATATTAAGTGTATATC
1064793293	411388	NM_000377.2(WAS):c.1453G>A (p.Asp485Asn)	WAS	Feb 21, 2017	MedGen:CN517202	not provided	germline	X	48689434	CAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCT
387906745	39009	NM_000459.4(TEK):c.2744G>A (p.Arg915His)	TEK	Apr 01, 2010	MedGen:C1838437,OMIM:600195,Orphanet:ORPHA2451	Multiple Cutaneous and Mucosal Venous Malformations	germline	9	27212764	CGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGC
1060502876	392945	NM_000179.2(MSH6):c.2735G>A (p.Trp912Ter)	MSH6	Oct 31, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47800718	TTCCTGATTTGACTGTAGAATTGAACCGATGGGATACAGCCTTTGACCATGAAAAGGCTCG
1135402820	425101	NM_001042492.2(NF1):c.1683G>A (p.Trp561Ter)	NF1	Feb 02, 2017	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31221891	TCTTCATCAGTTAGATAGCATTGATTTGTGGAATCCTGATGCTCCTGTAGAAACATTTTGG
80358189	69880	NM_007294.3(BRCA1):c.4485-1G>A	BRCA1	Jan 06, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	17	43074522	GATGGTTTTCTCCTTCCATTTATCTTTCTAGGTCATCCCCTTCTAAATGCCCATCATTAGA
587776903	40066	NM_201269.2(ZNF644):c.*592G>A	ZNF644	Jun 01, 2011	MedGen:C3279997,OMIM:614167	Myopia 21, autosomal dominant	germline	1	90916206	ATGGAACGGTTTTTTTTATACTAAAAAGTGGAGGGAGATTTGTTTAAACAAGTATTTCTAA
587783317	167802	NM_000053.3(ATP7B):c.4021G>A (p.Gly1341Ser)	ATP7B	Jul 29, 2013	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51937276	TATAACCTGGTTGGGATACCCATTGCAGCAGGTAGGCAGCTCTTACCCACTGTGCTCCAGC
1060503248	399783	NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln)	ACVRL1	Oct 06, 2016	MedGen:C1838163,OMIM:600376;MedGen:C1832529;MedGen:CN169374	Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified	germline	12	51916108	TCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCA
104894008	31174	NM_033507.1(GCK):c.784G>A (p.Gly262Arg)	GCK	Sep 14, 2017	MedGen:C1841962,OMIM:125851;MedGen:CN517202	Maturity-onset diabetes of the young,  type 2;not provided	germline	7	44147732	ATGTGCGTCAATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGACGAGTTCCTGC
876660996	231935	NM_000243.2(MEFV):c.1759+1G>A	MEFV	Jul 03, 2014	MedGen:CN517202	not provided	germline	16	3244253	CCCTGCGTTCAGAAATGGAAATGTTCAATGGTGAGTCCAGCGGTAATGGTGTGTGCTGGCC
761573352	200308	NM_174917.4(ACSF3):c.589G>A (p.Ala197Thr)	ACSF3	Feb 28, 2014	MedGen:CN517202	not provided	germline	16	89101270	GTCCCAGAGCAGGGATGGAGGAACAAGGGCGCCATGATCATCTACACCAGTGGGACCACGG
267607040	16074	NM_015559.2(SETBP1):c.2608G>A (p.Gly870Ser)	SETBP1	Mar 10, 2016	Human Phenotype Ontology:HP:0005506,MeSH:D015464,MedGen:C0023473,OMIM:608232,Orphanet:ORPHA521;MedGen:C1849294,OMIM:269150,SNOMED CT:18899000	Chronic myeloid leukemia;Schinzel-Giedion syndrome	germline;somatic	18	44951948	CACAGTGAGGAGACGATCCCCAGCGACAGCGGCATTGGGACAGACAACAACAGCACTTCTG
121908737	17002	NM_000022.3(ADA):c.446G>A (p.Arg149Gln)	ADA	Aug 01, 1990	MedGen:C1863239;MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	Partial adenosine deaminase deficiency;Severe combined immunodeficiency due to ADA deficiency	germline;unknown	20	44625601	AGGGGGAGCGAGACTTCGGGGTCAAGGCCCGGTCCATCCTGTGCTGCATGCGCCACCAGCC
121917707	28874	NM_005270.4(GLI2):c.1323G>A (p.Trp441Ter)	GLI2	Nov 01, 2010	MedGen:C1835819,OMIM:610829	Holoprosencephaly 9	germline	2	120975064	GGTGGTCATCTATGAGACCAACTGCCACTGGGAAGACTGCACCAAGGAGTACGACACCCAG
80338802	32652	NM_000070.2(CAPN3):c.2306G>A (p.Arg769Gln)	CAPN3	Jul 29, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42410926	ACAACCAGCTCTATGACATCATTACCATGCGGTACGCAGACAAACACATGAACATCGACTT
587776988	70462	NM_001142864.3(PIEZO1):c.7367G>A (p.Arg2456His)	PIEZO1	May 09, 2013	Gene:10774,MedGen:C0272051,OMIM:194380,Orphanet:ORPHA3202,SNOMED CT:87994004	Xerocytosis	germline	16	88715804	CCATCGTGCTGGTCATCGGCAAGTTCGTGCGCGGATTCTTCAGCGAGATCTCGCACTCCAT
797045148	205565	NM_080860.3(RSPH1):c.366G>A (p.Arg122=)	RSPH1	Sep 03, 2015	MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:42402006	Kartagener syndrome	germline	21	42485804	GAAATACCATGTTCCCCTTGTCTTAACCAGGCATGGGCAAGGCACCTATTTATACGCGGAG
34813378	434367	NM_000491.4(C1QB):c.730G>A (p.Gly244Arg)	C1QB	Sep 28, 2017	MedGen:C3150902,OMIM:613652	C1q deficiency	germline	1	22661354	GGCATGGAGGGTGCCAACAGCATCTTTTCCGGGTTCCTGCTCTTTCCAGATATGGAGGCCT
137853306	27503	NM_003289.3(TPM2):c.121G>A (p.Glu41Lys)	TPM2	Sep 01, 2007	MedGen:C1836447,OMIM:609285;MedGen:CN517202	Nemaline myopathy 4;not provided	germline	9	35689265	CTGACCAAGTCCCCTCTGTCCCAGCTGGAGGAGGAGCAGCAGGCCCTCCAGAAGAAGCTGA
111033551	32515	NM_000493.3(COL10A1):c.53G>A (p.Gly18Glu)	COL10A1	Jan 01, 1997	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116125440	TGCTGCTAGTATCCTTGAACTTGGTTCATGGAGTGTTTTACGCTGAACGATACCAAATGCC
-1	48774	NM_002335.3(LRP5):c.1584+1G>A	LRP5	Jan 01, 2010	MedGen:C0432252,OMIM:259770,Orphanet:ORPHA2788,SNOMED CT:254112001	Osteoporosis with pseudoglioma	germline	11	68390053	TGGGGAGACGCCAAGACAGACAAGATCGAGGTGAGGCTCCTGTGGACATGTTTGATCCAGG
397515342	17815	NM_000158.3(GBE1):c.783-1G>A	GBE1	Feb 15, 1996	MedGen:C1856304,Orphanet:ORPHA308670	Glycogen storage disease IV, congenital neuromuscular	germline	3	81642991	ATCTTCTTTTTGCTGTGTTCTTCATTGTTAGCCGTTATGGAACACCTGAAGAGCTACAAGA
104893795	28095	NM_000539.3(RHO):c.1033G>A (p.Val345Met)	RHO	Aug 01, 2001	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129533704	GCTACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTC
58075601	77336	NM_002055.4(GFAP):c.1117G>A (p.Glu373Lys)	GFAP	Apr 24, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44911246	ATCGCCACCTACAGGAAGCTGCTAGAGGGCGAGGAGAACCGGTGAGCCCTCATCACAGCCC
575001023	260670	NM_000050.4(ASS1):c.257G>A (p.Arg86His)	ASS1	Sep 01, 2016	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I	germline	9	130458483	CCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCC
121908017	18798	NM_000375.2(UROS):c.562G>A (p.Gly188Arg)	UROS	Dec 01, 1998	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125794978	AGGACTGATCTTGTTTTCTGTTCCCCACAGGGGGTTCCAGCCAGCATCACATTTTTTAGTC
587777714	165819	NM_014845.5(FIG4):c.904G>A (p.Glu302Lys)	FIG4	Jul 01, 2011	MedGen:C1970011,OMIM:611228,Orphanet:ORPHA139515	Charcot-Marie-Tooth disease, type 4J	germline	6	109743137	CAGGGTGATGTTGCAAATGAAGTGGAGACTGAACAAATACTCTGCGATGCTTCTGTGATGT
1064792874	224780	NM_001257989.1(TYMP):c.1297G>A (p.Gly433Ser)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50526019	GGGGTGGGCGCAGAGCTGCTGGTCGACGTGGGTCAGAGGCTGCGCCGTGGTGAGCGCCGCC
398123241	98512	NM_000194.2(HPRT1):c.486-1G>A	HPRT1	Oct 22, 2013	MedGen:CN517202	not provided	germline	X	134498389	TATGTTATATGTCACATTTTGTAATTAACAGCTTGCTGGTGAAAAGGACCCCACGAAGTGT
797045041	205795	NM_001396.3(DYRK1A):c.1400G>A (p.Arg467Gln)	DYRK1A	Dec 19, 2016	MedGen:C3279839,OMIM:614104,Orphanet:ORPHA464306;MedGen:CN517202	Mental retardation, autosomal dominant 7;not provided	de novo;germline	21	37505443	TAAGGATGCTTGATTATGACCCCAAAACTCGAATTCAACCTTATTATGCTCTGCAGCACAG
267606613	24694	m.9952G>A	MT-CO3	Jul 01, 1998	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	MT	9952	CCTGATACTGGCATTTTGTAGATGTGGTTTGACTATTTCTGTATGTCTCCATCTATTGATG
398123351	98808	NM_000404.3(GLB1):c.1769G>A (p.Arg590His)	GLB1	Nov 06, 2013	MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002;MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	germline	3	32997310	AGGTCTGGATTAATGGCTTTAACCTTGGCCGCTATTGGCCAGCCCGGGGCCCTCAGTTGAC
121917734	28274	NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)	EPB42	Mar 13, 2014	MedGen:C2675192,OMIM:612690	Spherocytosis type 5	germline	15	43208769	GACACTCCGCCCCTCTTCTCACAGTGCTGCGATGCCTGGGAATCCCTGCCCGCGTGGTGAC
-1	434549	NM_006513.3(SARS):c.514G>A (p.Asp172Asn)	SARS	Oct 10, 2017	MedGen:CN525653,OMIM:617709	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES	germline	1	109230944	TGTACAGTCAGGAAGAAGTACTCTCATGTGGACCTGGTGGTGATGGTAGATGGCTTTGAAG
104894579	78484	NM_000891.2(KCNJ2):c.899G>A (p.Gly300Asp)	KCNJ2	Aug 06, 2015	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000	Andersen Tawil syndrome;Congenital long QT syndrome	germline	17	70175938	CAGACTTTGAAATCGTGGTCATACTGGAAGGCATGGTGGAAGCCACTGCCATGACGACACA
886041374	265088	NM_000444.5(PHEX):c.2071-1G>A	PHEX	Jul 12, 2016	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	germline	X	22245332	GCTCATTTGTTGGGATGCTTTTCTCTTCTAGGTGAGGTGCAATTCCTACAGACCAGAAGCT
104894053	23934	NM_000193.3(SHH):c.383G>A (p.Trp128Ter)	SHH	Dec 07, 2015	MedGen:C1840529,OMIM:142945;Human Phenotype Ontology:HP:0006315,MedGen:C1840235,OMIM:147250;MedGen:CN517202	Holoprosencephaly 3;Single median maxillary incisor;not provided	germline	7	155806475	CAGGAGTGAAACTGCGGGTGACCGAGGGCTGGGACGAAGATGGCCACCACTCAGAGGAGTC
45517212	58892	NM_000548.4(TSC2):c.2098-1G>A	TSC2	Jan 11, 2016	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2072240	GGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTT
369574719	430978	NM_000158.3(GBE1):c.785G>A (p.Arg262His)	GBE1	Nov 15, 2016	MedGen:C1849722,OMIM:263570,Orphanet:ORPHA206583	Polyglucosan body disease, adult	paternal	3	81642988	TTCTTTTTGCTGTGTTCTTCATTGTTAGCCGTTATGGAACACCTGAAGAGCTACAAGAACT
104886070	35665	NM_000495.4(COL4A5):c.791G>A (p.Gly264Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108580543	TTTCCCCTACTACTGCATAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGAT
121908508	20724	NM_001169109.1(SCO2):c.107G>A (p.Trp36Ter)	SCO2	Nov 01, 2008	MedGen:C1858424,OMIM:604377,Orphanet:ORPHA1561	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	germline	22	50524305	TGGGAGGCCAGGCCCTGCATCTGAGGTCCTGGCTTTTGTCAAGGCAGGGCCCTGCAGAGAC
587777482	143177	NM_001424.5(EMP2):c.28G>A (p.Ala10Thr)	EMP2	Jun 05, 2014	MedGen:C4014507,OMIM:615861,Orphanet:ORPHA69061	Nephrotic syndrome, type 10	germline	16	10547590	AAAATGTTGGTGCTTCTTGCTTTCATCATCGCCTTCCACATCACCTCTGCAGCCTTGCTGT
886042006	264402	NM_000503.5(EYA1):c.418+1G>A	EYA1	Sep 19, 2016	MedGen:CN517202	not provided	germline	8	71321733	CAGGACAGCCGTACGGCATTTCCTCATATGGTGAGTAACCTGCAACTGTAGTGGTGGCGTT
387906734	38960	m.586G>A	MT-TF	Nov 01, 2010	Human Phenotype Ontology:HP:0006789,MedGen:C1852373	Encephalopathy, mitochondrial	germline	MT	586	ACCCCAAAGACACCCCCCACAGTTTATGTAGCTTACCTCCTCAAAGCAATACACTGAAAAT
879254383	434186	NM_000527.4(LDLR):c.3G>A (p.Met1Ile)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089551	GGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACC
68132885	413958	NM_000089.3(COL1A2):c.1197+5G>A	COL1A2	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	7	94410532	GCCCTCCAGGACCTCCTGGGCTGAGAGTAGGTTTCAAATGCTCCCAACACCCTAACACACC
587777684	153866	NM_019105.6(TNXB):c.3991G>A (p.Gly1331Arg)	TNXB	Jul 01, 2013	MedGen:C4014831,OMIM:615963	Vesicoureteral reflux 8	germline	6	32081419	CCCGACCGGAAGTATAAGATGAACCTCTACGGGCTTCGTGGCAGGCAGCGTGTGGGGCCCG
104893893	29881	NM_002185.4(IL7R):c.651G>A (p.Trp217Ter)	IL7R	Dec 01, 1998	MedGen:C1837028,OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	germline	5	35873593	CATCCCTGATCACTATTTTAAAGGCTTCTGGAGTGAATGGAGTCCAAGTTATTACTTCAGA
876660141	235732	NM_001042492.2(NF1):c.5269-1G>A	NF1	May 17, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	germline	17	31327498	TCCACTTCACCCCGTCACCACCACTTTCCAGGTTGGTTCTACTGCTGTCCAAGTAACTTCA
886041780	264353	NM_023110.2(FGFR1):c.1431-1G>A	FGFR1	Jul 12, 2016	MedGen:CN517202	not provided	germline	8	38417992	AACTTATGCCACTCTCTGTTTCCCCCGAAAGACTGGTCTTAGGCAAACCCCTGGGAGAGGG
387907294	45801	NM_022787.3(NMNAT1):c.25G>A (p.Val9Met)	NMNAT1	Sep 01, 2012	MedGen:C1837873,OMIM:608553	Leber congenital amaurosis 9	germline	1	9972098	CTTACCATGGAAAATTCCGAGAAGACTGAAGTGGTTCTCCTTGCTTGTGGTTCATTCAATC
104895222	27379	NM_001065.3(TNFRSF1A):c.350G>A (p.Cys117Tyr)	TNFRSF1A	Apr 02, 1999	MedGen:C1275126,OMIM:142680,Orphanet:ORPHA32960,SNOMED CT:403833009	TNF receptor-associated periodic fever syndrome (TRAPS)	germline	12	6333489	CAGAAATGGGTCAGGTGGAGATCTCTTCTTGCACAGTGGACCGGGACACCGTGTGTGGCTG
9332964	18390	NM_000348.3(SRD5A2):c.680G>A (p.Arg227Gln)	SRD5A2	Jun 20, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000;MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000;MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000;Human Phenotype Ontology:HP:0000054,MedGen:C0266435;MedGen:CN517202	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;Micropenis;not provided	germline;inherited	2	31529325	CATTTTTCTCACTTTGTTTCCTTGGGCTGCGAGCTTTTCACCACCATAGGTAAATTTTTCA
587777194	106828	NM_005017.3(PCYT1A):c.385G>A (p.Glu129Lys)	PCYT1A	Jan 02, 2014	MedGen:C1837073,OMIM:608940,Orphanet:ORPHA85167	Spondylometaphyseal dysplasia with cone-rod dystrophy	germline	3	196247468	CACAACTTCAAAGGCTTCACGGTGATGAACGAGAATGAGCGCTATGACGCAGTCCAGCACT
764670582	75586	NM_000165.4(GJA1):c.716G>A (p.Arg239Gln)	GJA1	Jul 24, 2017	MedGen:C1857496,OMIM:218400;MedGen:CN517202	Craniometaphyseal dysplasia, autosomal recessive type;not provided	germline	6	121447563	TCTATGTTTTCTTCAAGGGCGTTAAGGATCGGGTTAAGGGAAAGAGCGACCCTTACCATGC
267608183	21809	NM_153818.1(PEX10):c.600+1G>A	PEX10	May 15, 2017	MedGen:C3553947,OMIM:614870;MedGen:CN517202	Peroxisome biogenesis disorder 6A;not provided	germline	1	2408451	CTGGCCAAGAGGCTCACGGGGATCACGTACGTAAGTAGCAGGCGCTGAGGGCACAGCTGCT
138213197	133488	NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu)	HOXB13	Sep 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3469524;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Prostate cancer susceptibility;not provided	germline	17	48728343	CCCCAGCTCCCGTGCCTTATGGTTACTTTGGAGGCGGGTACTACTCCTGCCGAGTGTCCCG
281874660	47360	NM_000495.4(COL4A5):c.1216G>A (p.Gly406Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591108	CCTGGCCCTCCTGGATTTCCTGGAGAAAGGGGTCAGAAAGGTGATGAAGGACCACCTGGAA
121918270	17211	NM_022370.3(ROBO3):c.1082G>A (p.Gly361Glu)	ROBO3	Jun 04, 2004	MedGen:C1846496,OMIM:607313,Orphanet:ORPHA2744	Gaze palsy, familial horizontal, with progressive scoliosis	germline	11	124871062	CCCAGCCCCAGGACCAGATGGCAGCTCCTGGAGAGAGCGTGGCTTTCCAGTGCGAGACCAA
587780077	224943	NM_000551.3(VHL):c.445G>A (p.Ala149Thr)	VHL	Feb 26, 2016	MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004	Von Hippel-Lindau syndrome	germline	3	10146618	TCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTT
759130031	234531	NM_005591.3(MRE11):c.659+1G>A	MRE11	Jan 10, 2017	MedGen:C1858391,OMIM:604391,Orphanet:ORPHA251347;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia-like disorder 1;Hereditary cancer-predisposing syndrome	germline;unknown	11	94476288	GTTTAACTTATTTGTGATTCATCAGAACAGGTAAAACTTTTCTCTGAAAAAGTTTGAGCCA
72549321	31346	NM_001002294.2(FMO3):c.154G>A (p.Ala52Thr)	FMO3	Sep 01, 1999	Human Phenotype Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED CT:237959005	Trimethylaminuria	germline	1	171103806	CATTCACAGGACCATGCAGAGGAGGGCAGGGCTAGCATTTACAAATCAGTCTTTTCCAACT
191582628	39768	NM_203290.3(POLR1C):c.836G>A (p.Arg279Gln)	POLR1C	Jun 01, 2017	MedGen:C1855433,OMIM:248390;MedGen:CN239289;MedGen:CN517202	Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive;Treacher Collins Syndrome, Recessive;not provided	germline	6	43520962	GTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCG
767795673	361759	NM_007198.3(PLPBP):c.207+1G>A	PLPBP	Jan 07, 2017	MedGen:C4310632,OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	germline	8	37765634	CATGGGCAGCGCACTTTTGGCGAGAACTACGTAAGAGCCCTTTCCTGAAGCCCTTTGGAAG
104893631	23196	NM_080916.2(DGUOK):c.425G>A (p.Arg142Lys)	DGUOK	Sep 01, 2002	MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	germline	2	73946888	AGGCCAGGAAGCCAGTACAGATCTTTGAGAGGTCTGTGTACAGTGACAGGTAAAATGCCAA
104894193	20054	NM_021926.3(ALX4):c.653G>A (p.Arg218Gln)	ALX4	Nov 08, 2012	MedGen:C1865044,OMIM:609597	Parietal foramina 2	germline	11	44275472	AGAGCAACAAGGGCAAGAAGCGGCGGAACCGGACCACCTTCACCAGCTACCAGCTGGAGGA
137852290	25574	NM_000292.2(PHKA2):c.557G>A (p.Arg186His)	PHKA2	Nov 01, 1998	MedGen:C2748941	Glycogen storage disease IXa2	germline	X	18945139	TTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGA
63750512	29294	NM_005910.5(MAPT):c.1165G>A (p.Gly389Arg)	MAPT	May 16, 2017	MedGen:C0236642,OMIM:172700,SNOMED CT:13092008;MedGen:CN517202	Pick's disease;not provided	germline	17	46024010	CGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGG
63750235	426820	NM_001171.5(ABCC6):c.3999G>A (p.Val1333=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154915	CTGGATCGACGGGGTCCCCATTGCCCACGTGGGGCTGCACACACTGCGCTCCAGGATCAGC
878853114	237469	NM_000495.4(COL4A5):c.1339+1G>A	COL4A5	Feb 09, 2016	MedGen:CN517202	not provided	germline	X	108591232	CTGGCCCTGCTGGCCCTCACATTCCTCCTAGTAAGCTATATTTTTCTCCTATTAAGTTCTA
771937610	200180	NM_000050.4(ASS1):c.1088G>A (p.Arg363Gln)	ASS1	Mar 15, 2016	MedGen:CN517202	not provided	germline	9	130494984	TCCTCAAGGGCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAATGAGGA
515726209	136371	NM_007272.2(CTRC):c.217G>A (p.Ala73Thr)	CTRC	Mar 13, 2014	MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000	Hereditary pancreatitis	germline	1	15440577	TTGATTGCTAGCAACTTCGTCCTCACTGCCGCCCACTGCATCAGGTGTGCGGGGATGATAC
1057519327	361918	NM_000248.3(MITF):c.635-1G>A	MITF	Aug 15, 2017	MedGen:C4310625,OMIM:617306;MedGen:C1860339,OMIM:193510	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Waardenburg syndrome type 2A	germline	3	69956454	TAATAGCCTTTCCTGTGCTCTTTTCTTGAAGTTGAACGAAGAAGAAGATTTAACATAAATG
786204250	186270	NM_032043.2(BRIP1):c.2447G>A (p.Trp816Ter)	BRIP1	Jan 21, 2015	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006	Familial cancer of breast	germline	17	61715996	AATTGAGAGGTCTTCTACCTGGCCGTCAGTGGTATGAAATTCAAGCATACAGGGCCTTAAA
104894334	32871	NM_000486.5(AQP2):c.439G>A (p.Ala147Thr)	AQP2	Oct 02, 2015	MedGen:C4015884;Human Phenotype Ontology:HP:0009806,MedGen:C0162283,Orphanet:ORPHA223,SNOMED CT:111395007	Diabetes insipidus, nephrogenic, autosomal recessive;Nephrogenic diabetes insipidus	germline	12	49954233	CTGACACTGCAGCTGGTGCTCTGCATCTTCGCCTCCACCGATGAGCGCCGCGGAGAGAACC
121965016	15289	NM_000398.6(CYB5R3):c.875G>A (p.Gly292Asp)	CYB5R3	May 01, 2008	MedGen:C2749559	Methemoglobinemia, type I	germline	22	42619804	ACGCCTGCCTTCCCAACCTGGACCACGTGGGCCACCCCACGGAGCGCTGCTTCGTCTTCTG
863225087	214750	NM_002435.2(MPI):c.1253G>A (p.Arg418His)	MPI	-	MedGen:C1865145,OMIM:602579,Orphanet:ORPHA79319	Congenital disorder of glycosylation type 1B	inherited	15	74897711	TTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGCTGTCTGCTGTAAAGGCTGCAGCC
121909575	32977	NM_001042425.1(TFAP2A):c.773G>A (p.Gly258Glu)	TFAP2A	May 01, 2008	MedGen:C0376524,OMIM:113620	Branchiooculofacial syndrome	germline	6	10402590	TGTGAAACAGGGCGAAGTCTAAAAATGGAGGAAGATCTTTAAGAGAAAAACTGGACAAAAT
45590836	18566	NM_005957.4(MTHFR):c.1743G>A (p.Met581Ile)	MTHFR	Jul 03, 2003	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11791216	GCCCACCGTAGTGGATCCCGTCAGCTTCATGTTCTGGAAGGTAAAGGAGCCGGGGGCAAGC
886058642	295323	NM_000094.3(COL7A1):c.1637-1G>A	COL7A1	Jun 14, 2016	MedGen:C0079294,Orphanet:ORPHA303,SNOMED CT:254185007;MedGen:CN517202	Dystrophic epidermolysis bullosa;not provided	germline	3	48590817	CCCTGCCCACCTACCCTGACTTCTCTCTTAGGGGTTGAGCGGACCCTGGTGCTTCCTGGGA
690016548	171840	NM_005211.3(CSF1R):c.2330G>A (p.Arg777Gln)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056331	CCTGCAGTGCTTTCCCTCAGTGCATCCACCGGGACGTGGCAGCGCGTAACGTGCTGTTGAC
786202118	181747	NM_000465.3(BARD1):c.2268G>A (p.Trp756Ter)	BARD1	Jun 20, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	214728742	CCCAGAGAGGGTTCGGCAGGGCAAAGTCTGGAAGGCTCCTTCGAGCTGGTTTATAGACTGT
1057517789	360585	NM_000444.5(PHEX):c.500G>A (p.Trp167Ter)	PHEX	Dec 05, 2016	MedGen:CN517202	not provided	germline	X	22077539	TACACATCCTACGGCATTCACCTTTCCGCTGGCCCGTGCTTGAATCTAATATTGGCCCTGA
104894699	28512	NM_004977.2(KCNC3):c.1259G>A (p.Arg420His)	KCNC3	Aug 08, 2016	MedGen:C1854488,OMIM:605259,Orphanet:ORPHA98768	Spinocerebellar ataxia 13	germline	19	50323694	TGGGCTTCCTGCGGGTGGTCCGCTTCGTCCGCATCCTGCGCATCTTCAAGCTGACCCGGCA
63750734	33136	NM_000484.3(APP):c.2143G>A (p.Val715Met)	APP	Jun 23, 2017	MedGen:C1863052;MedGen:CN517202	Alzheimer disease, type 1;not provided	germline	21	25891790	CTCATGGTGGGCGGTGTTGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGAAGA
863225370	214667	NM_000038.5(APC):c.645+1G>A	APC	Apr 27, 2017	MedGen:C2713442,OMIM:175100;MedGen:CN517202	Familial adenomatous polyposis 1;not provided	germline;unknown	5	112780904	ACCTGCCAGGATATGGAAAAACGAGCACAGGTAAGTTACTTGTTTCTAAGTGATAAAACAG
875989850	227737	NM_013334.3(GMPPB):c.760G>A (p.Val254Met)	GMPPB	Jan 26, 2017	MedGen:C3714932,OMIM:615352,Orphanet:ORPHA363623;MedGen:CN517202	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;not provided	germline	3	49722239	CTGTGCTCAGGCCCTGGCATTGTGGGCAACGTGCTGGTGGTGAGGCCCTTGCCCAGCCCAT
121908978	21972	NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His)	SLC37A4	Feb 26, 1999	MedGen:C0268146,OMIM:232220,SNOMED CT:30102006;MedGen:CN517202	Glucose-6-phosphate transport defect;not provided	germline	11	119029287	TTGGGGGCTACAGCCTGTATTACTTCAATCGCAAGACCTTCTCCTTTGTCATGCCATCATT
121918514	28286	NM_002739.4(PRKCG):c.353G>A (p.Gly118Asp)	PRKCG	Apr 18, 2013	MedGen:C1854369,OMIM:605361,Orphanet:ORPHA98763	Spinocerebellar ataxia 14	germline	19	53889705	ACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGG
397515524	76500	NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	TTPA	Jun 27, 2013	MedGen:C1848533,OMIM:277460,Orphanet:ORPHA96	Ataxia with vitamin E deficiency	not provided	8	63066035	GACGTATTTCGAGTAAGTCTAATCACATCCGAGCTTATTGTACAGGAGGTAGAAACTCAGC
104893998	20252	NM_018965.3(TREM2):c.233G>A (p.Trp78Ter)	TREM2	Mar 12, 2015	MedGen:C1857316,OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	germline	6	41161421	ACTTGTGGCTGCTGTCCTTCCTGAGGAGGTGGAATGGGAGCACAGCCATCACAGACGATAC
747348765	440164	NM_001080463.1(DYNC2H1):c.6910G>A (p.Ala2304Thr)	DYNC2H1	Oct 04, 2017	MedGen:CN674505;MedGen:CN517202	Short-rib polydactyly syndrome type III;not provided	germline;unknown	11	103187356	TGCATTTTTCGTAGGATGCTGCTCAGGTACGCATTTTCACAACTCCGGTCCACTCAAATTG
121912826	32528	NM_000091.4(COL4A3):c.3044G>A (p.Gly1015Glu)	COL4A3	May 01, 2002	MedGen:C0241908,OMIM:141200,SNOMED CT:236421001	Benign familial hematuria	germline	2	227290062	CTGGAGAACCAGGACTGCGTGGTATACCAGGAAGCATGGGGAACATGGGCATGCCAGGTAA
-1	417082	NM_019098.4(CNGB3):c.2103+1G>A	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300;Human Phenotype Ontology:HP:0007754,MedGen:C0730292	Achromatopsia 3;Macular dystrophy	unknown	8	86578688	CTCAAATTGAAGCGAGAGCAAGCAGCTCAGGTAATAAGGTGGAGTGAATGGACGGCTGTCA
863223849	209623	NM_003242.5(TGFBR2):c.1276G>A (p.Ala426Thr)	TGFBR2	Jun 14, 2013	MedGen:CN517202	not provided	germline	3	30674126	TTGCTATAGGTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAGAATCCAGGATGAATT
202102042	132360	NM_006172.3(NPPA):c.449G>A (p.Arg150Gln)	NPPA	Feb 01, 2013	MedGen:C3810401,OMIM:615745	Atrial standstill 2	germline	1	11847114	CCCAGAGCGGACTGGGCTGTAACAGCTTCCGGGTAAGAGGAACTGGGGATGGAAATGGGAT
72659357	19990	NM_006371.4(CRTAP):c.3G>A (p.Met1Ile)	CRTAP	Dec 28, 2006	MedGen:C1853162,OMIM:610682	Osteogenesis imperfecta type 7	germline	3	33114080	CCTTCCTTCCTTCCTTTCGCCGGGCGCGATGGAGCCGGGGCGCCGGGGGGCCGCGGCGCTG
34371500	25225	NM_000132.3(F8):c.822G>A (p.Trp274Ter)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969518	GATTGGATGCCACAGGAAATCAGTCTATTGGCATGTGATTGGAATGGGCACCACTCCTGAA
191284403	16618	NM_052910.2(SLITRK1):c.*689G>A	SLITRK1	May 01, 2010	Gene:2973,MedGen:C0040517,OMIM:137580	Tourette Syndrome	germline	13	83878728	GAAAGTGCCATTTCGCCATTATTTGTGATCGGTAGGCAGTTCAGAGCATAAGTTAACTGTG
137853269	25856	NM_000444.5(PHEX):c.254G>A (p.Cys85Tyr)	PHEX	Apr 01, 1997	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22047116	ATCCTTGTGATAATTTCTTCCGGTTCGCTTGTGATGGCTGGATAAGCAATAATCCAATTCC
-1	445874	NM_002734.4(PRKAR1A):c.672G>A (p.Trp224Ter)	PRKAR1A	Oct 05, 2017	MedGen:CN517202	not provided	germline	17	68525876	TGTCAAAGCAAAGACAAATGTGAAATTGTGGGGCATCGACCGAGACAGCTATAGAAGAATC
730882158	181302	NM_001195129.1(PRSS56):c.958G>A (p.Gly320Arg)	PRSS56	Jan 01, 2011	MedGen:C3150757,OMIM:613517	Microphthalmia, isolated 6	germline	2	232523524	GGGGACGGCTGCGGGGAGCCAGGGAAGCCCGGGGTCTACACCCGCGTGGCAGTGTTCAAGG
137854306	445511	NM_000548.4(TSC2):c.482-1G>A	TSC2	Aug 10, 2016	MedGen:CN517202	not provided	germline	16	2055401	TCCTCGCAAACTGCCGCCGCTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTG
104893661	22742	NM_002618.3(PEX13):c.702G>A (p.Trp234Ter)	PEX13	Jun 01, 1999	MedGen:C3554000,OMIM:614883	Peroxisome biogenesis disorder 11A	germline	2	61032028	GGACCGAGCAGCTACCTCAGCAAAATCTTGGCCAATATTCTTGTTCTTTGCTGTTATCCTT
1057517663	359046	NM_001309444.1(SPARC):c.787G>A (p.Glu263Lys)	SPARC	Aug 05, 2015	MedGen:C4225301,OMIM:616507	Osteogenesis imperfecta, type xvii	germline	5	151664183	GCTCCACTGCGTGCTCCCCTCATCCCCATGGAGCATTGCACCACCCGCTTTTTCGAGACCT
80338664	76457	NM_000081.3(LYST):c.8583G>A (p.Trp2861Ter)	LYST	Feb 16, 2012	MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED CT:111396008	Chédiak-Higashi syndrome	not provided	1	235733859	AACTGAAGAAGGAGTGAATAAAGCTGCTTGGCAGAAAACAGTTAACAATAATCAACAAAGG
1057517794	360559	NM_000444.5(PHEX):c.1483-1G>A	PHEX	Sep 08, 2015	MedGen:CN517202	not provided	germline	X	22178272	GAACAATGATGTTGTGGTTTGTTTTATTCAGATCAAGTTTTCAGAAGCCGACTACTTTGGC
587777635	153742	NM_080860.3(RSPH1):c.281G>A (p.Trp94Ter)	RSPH1	Jul 01, 2014	MedGen:C3809634,OMIM:615481	Primary ciliary dyskinesia 24	germline	21	42486455	TTGCCTTTGTGTTGTTCCTTTCAGGAGAGTGGGCAAATGACCTGCGGCACGGCCATGGCGT
1057520717	378585	NM_001849.3(COL6A2):c.1572+1G>A	COL6A2	May 11, 2015	MedGen:CN517202	not provided	germline	21	46122159	TTCAGCTACCCAGGACCCCGAGGAGCACCCGTGAGTCACAGCCTGGGATGGCAGCTCCCAG
775341740	359556	NM_006846.3(SPINK5):c.2240+1G>A	SPINK5	May 25, 2016	MedGen:CN517202	not provided	germline	5	148118565	CAATCAGTGTACCATGTGTAAAGCAAAATTGTAAGTATTTCTCTCAACAGGCATGTCTAAA
527236098	152788	NM_000322.4(PRPH2):c.499G>A (p.Gly167Ser)	PRPH2	Feb 12, 2016	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:CN517202	Retinitis pigmentosa;not provided	germline	6	42721836	GACATGCTGCAGATCGAGTTCAAATGCTGCGGCAACAACGGTTTTCGGGACTGGTTTGAGA
753237335	438528	NM_017807.3(OSGEP):c.974G>A (p.Arg325Gln)	OSGEP	Oct 26, 2017	MedGen:CN570505,OMIM:617729	GALLOWAY-MOWAT SYNDROME 3	germline	14	20447274	CCATGTTTCTTCTGTTTTTCCACAGGTATCGGACAGATGAAGTAGAGGTGACCTGGAGGGA
-1	442450	NM_000166.5(GJB1):c.548G>A (p.Arg183His)	GJB1	Dec 23, 2015	MedGen:CN517202	not provided	germline	X	71224255	GCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTT
879253837	224636	NM_000255.3(MUT):c.974G>A (p.Gly325Asp)	MUT	-	MedGen:C1855114,OMIM:251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	germline	6	49453694	TCTATATGGAAATAGCAAAGATGAGAGCTGGTAGAAGACTCTGGGCTCACTTAATAGAGAA
199422206	27989	NM_003035.2(STIL):c.2826+1G>A	STIL	Sep 01, 2009	MedGen:C2675187,OMIM:612703	Primary autosomal recessive microcephaly 7	germline	1	47262902	GATAACCAGAAAATTTACCAGGATTTATTGGTAAGAAAATGTAGAGCATTTCATCTTTTTG
-1	473466	NM_000249.3(MLH1):c.1791G>A (p.Trp597Ter)	MLH1	Sep 19, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	3	37047578	GCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTT
121913123	31275	NM_000143.3(FH):c.698G>A (p.Arg233His)	FH	Jul 20, 2017	MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED CT:237983002;MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523;MedGen:CN517202	Fumarase deficiency;Hereditary cancer-predisposing syndrome;Multiple cutaneous leiomyomas;not provided	germline;unknown	1	241508643	AAGAGTTTGCACAGATCATCAAGATTGGACGTACTCATACTCAGGATGCTGTTCCACTTAC
587779623	107092	NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999375	AGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTC
121912484	29584	NM_000228.2(LAMB3):c.1830G>A (p.Trp610Ter)	LAMB3	Feb 01, 1998	MedGen:C0079683,OMIM:226700,Orphanet:ORPHA79404,SNOMED CT:400140006	Junctional epidermolysis bullosa gravis of Herlitz	germline	1	209625794	TAGACTCCGCAATGCCACCGCCAGCCTGTGGTCAGGGCCTGGGCTGGAGGACCGTGGCCTG
886039727	260078	NM_017882.2(CLN6):c.198+1G>A	CLN6	Aug 12, 2016	MedGen:CN517202	not provided	germline	15	68218535	GTTCTGGACTTTGGGCGTCCCATTGCCATGGTGAGTGTGAAATGGTGCACAGGGCTCTGAC
-1	485690	NM_006996.2(SLC19A2):c.1082G>A (p.Trp361Ter)	SLC19A2	Aug 08, 2016	MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED CT:237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	germline	1	169468785	TTGGTTATATAAAAATATCCTGGTCAACTTGGGGAGAAATGACATTATCTCTCTTTTCTCT
377767347	36173	NM_005359.5(SMAD4):c.1082G>A (p.Arg361His)	SMAD4	Aug 03, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;MedGen:C0027672,SNOMED CT:699346009;na;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MeSH:D002583,MedGen:CN236667;MedGen:CN517202	Adenocarcinoma of lung;Adenocarcinoma of stomach;Carcinoma of esophagus;Colorectal Neoplasms;Hereditary cancer-predisposing syndrome;JP and JP/HHT;Neoplasm of the breast;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Uterine cervical neoplasms;not provided	germline;somatic	18	51065549	ATGGATACGTGGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCA
5030869	25402	NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD CHATHAM	germline;unknown	X	154532990	GACCCCACGGTGCCCCGCGGGTCCACCACCGCCACTTTTGCAGCCGTCGTCCTCTATGTGG
121908574	21205	NM_004328.4(BCS1L):c.1057G>A (p.Val353Met)	BCS1L	Sep 01, 2001	MedGen:C1852372,OMIM:124000	Mitochondrial complex III deficiency	germline	2	218663183	CGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCC
121908557	20958	NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	SCN4A	Aug 12, 2016	MedGen:CN074266,OMIM:170500;Human Phenotype Ontology:HP:0003198,MedGen:C0026848;MedGen:C1868433;MedGen:CN517202	Hyperkalemic Periodic Paralysis Type 1;Myopathy;Normokalemic periodic paralysis, potassium-sensitive;not provided	germline;paternal	17	63957514	TCACCCTTGCCCTCCCTGCTTGGCAGCTGCGGGTCTTCAAGCTGGCCAAGTCGTGGCCAAC
730880027	178367	NM_006000.2(TUBA4A):c.1220G>A (p.Trp407Ter)	TUBA4A	Oct 22, 2014	MedGen:C4015512,OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	germline	2	219250479	TGATGTATGCCAAGAGGGCGTTTGTGCACTGGTATGTGGGTGAGGGCATGGAGGAGGGTGA
121918153	15708	NM_000312.3(PROC):c.659G>A (p.Arg220Gln)	PROC	Jun 14, 2016	MedGen:C2674321,OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	germline	2	127426208	CGCGGCTCATTGATGGGAAGATGACCAGGCGGGGAGACAGCCCCTGGCAGGTGGGAGGCGA
-1	426396	NM_033380.2(COL4A5):c.679G>A (p.Gly227Ser)	COL4A5	Jun 09, 2017	MedGen:CN517202	not provided	germline	X	108578111	AATATGGGCTTAAATTTCCAGGGACCCAAAGGTGAAAAAGTGAGTAAAGAAAGAGAGCTGG
757645341	241562	NM_000020.2(ACVRL1):c.822G>A (p.Trp274Ter)	ACVRL1	Jul 18, 2017	MedGen:C1838163,OMIM:600376	Hereditary hemorrhagic telangiectasia type 2	germline	12	51915274	GACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCC
121907996	18899	NM_000053.3(ATP7B):c.2906G>A (p.Arg969Gln)	ATP7B	Sep 27, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline;unknown	13	51946438	AGCACATCTCCCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGTCCATCACGGTGCT
587779604	107066	NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188990353	CTGGGATACCTGGATTCCCTGGTATGAAAGGACACAGAGTAAGTAGAGTTTCTAAGTTGTT
587779516	106961	NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188992229	GACGGTGCTCGAGGCAGTGATGGTCAACCAGTAAGTAACTTTCTATCTCTTATGTGTTGTA
111033802	36643	NM_000155.3(GALT):c.983G>A (p.Arg328His)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649488	TGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGG
777849213	411619	NM_033500.2(HK1):c.2503G>A (p.Glu835Lys)	HK1	Apr 27, 2017	MedGen:CN242289,OMIM:617460	Retinitis pigmentosa 79	germline	10	69398758	GGCATGGCTGCGGTTGTGGATAAGATCCGCGAGAACAGAGGACTGGACCGTCTGAATGTGA
121918150	15705	NM_000312.3(PROC):c.1000G>A (p.Gly334Ser)	PROC	Jan 26, 2015	MedGen:C2674321,OMIM:176860;MedGen:C2676759,OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	germline	2	127428560	GGCCTTGCAGAGCGCGAGCTCAATCAGGCCGGCCAGGAGACCCTCGTGACGGGCTGGGGCT
876657733	228321	NM_206933.2(USH2A):c.8681+1G>A	USH2A	Nov 03, 2015	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215877757	GTGGCTTTATGAAGATAAGGGTCTTAGCAGGTGAGATTACAAAAACTATAAAAACAAATGC
121912857	32453	NM_001845.5(COL4A1):c.1685G>A (p.Gly562Glu)	COL4A1	Apr 06, 2006	MedGen:C1843512,OMIM:607595	Brain small vessel disease with hemorrhage	germline	13	110187181	CCGGCATGCCAGGGAGAGCGGGTTCTCCTGGAAGAGATGGCCATCCGGGTCTTCCTGGCCC
143747297	44169	NM_012123.3(MTO1):c.1282G>A (p.Ala428Thr)	MTO1	Apr 11, 2017	MedGen:C3553529,OMIM:614702,Orphanet:ORPHA314637;MedGen:CN517202	Combined oxidative phosphorylation deficiency 10;not provided	germline	6	73482061	CTCTTGTAGGGTGTGATAGCCGGAATCAACGCCAGTCTTCGGGTCAGTCGCAAGCCTCCCT
587781233	165790	NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	de novo	15	25360443	GAATTTGAAGGAGAACAAGGAGTTGATGAGGGAGGTGTTTCCAAAGAATTTTTTCAGCTGG
1085307216	414153	NM_001204.6(BMPR2):c.353G>A (p.Cys118Tyr)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467624	TTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTAC
140124953	361166	NM_000547.5(TPO):c.1994G>A (p.Arg665Gln)	TPO	Jun 10, 2015	MedGen:C1291299,OMIM:274500,SNOMED CT:124204003	Deficiency of iodide peroxidase	germline	2	1494027	GTCTCATTGGGAAGCAGATGAAGGCTCTGCGGGACGGTGACTGGTACGTTCCTATCCAGAG
367543072	51100	NM_152490.4(B3GALNT2):c.740G>A (p.Gly247Glu)	B3GALNT2	Jun 27, 2013	MedGen:C3554638,OMIM:615181;MedGen:CN517202	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11;not provided	germline;unknown	1	235470872	ATCTCCACAAAGTGACAGTGAATGATGGAGGGGGAGTTCTCAGAGTCATTACAGTAAGTCG
1057520719	379257	NM_001363.4(DKC1):c.1133G>A (p.Arg378Gln)	DKC1	May 08, 2015	MedGen:CN517202	not provided	germline	X	154773227	GAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGTAAGTGG
397516457	52797	NM_001001430.2(TNNT2):c.281G>A (p.Arg94His)	TNNT2	May 11, 2017	MedGen:C1861864,OMIM:115195;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided	germline	1	201365291	CGGTCCACCCACAGGACATCCACCGGAAGCGCATGGAGAAGGACCTGAATGAGTTGCAGGC
786205214	188046	NM_001165963.1(SCN1A):c.2214G>A (p.Trp738Ter)	SCN1A	Feb 01, 2017	MedGen:C1858673,OMIM:604403;MedGen:CN517202	Generalized epilepsy with febrile seizures plus, type 2;not provided	de novo;germline	2	166041432	AGAATCCAGGCAGAAATGCCCACCCTGTTGGTATAAATTTTCCAACATATTCTTAATCTGG
786205077	20856	NM_139025.4(ADAMTS13):c.414+1G>A	ADAMTS13	Feb 15, 2004	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133425613	GTGAAGATGGTCATTCTGACAGAGCCTGAGGTAGGCATGGAGCTGGAACTCAGCACACCAT
769259233	481377	NM_014297.4(ETHE1):c.375+5G>A	ETHE1	Nov 16, 2017	MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188	Ethylmalonic encephalopathy	germline	19	43526196	GAGACTCCATCCGCTTCGGGCGCTTCGTGAGTTGGGTGCTGGGTCCCCAAGAGGGTGGTGG
587783600	170114	NM_006579.2(EBP):c.182G>A (p.Trp61Ter)	EBP	Feb 08, 2013	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48523953	GTCGTGCTGCGGTTGTCCCATTGGGGACTTGGCGGCGACTGTCCCTGTGCTGGTTTGCAGT
121434247	18380	NM_000348.3(SRD5A2):c.547G>A (p.Gly183Ser)	SRD5A2	Sep 23, 2013	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31531371	CCTGGAGAAATCAGCTACAGGATTCCACAAGGTAATGTCTCCCCTGCCCCCAGACTCTCAC
80356598	34701	NM_194248.2(OTOF):c.4275G>A (p.Trp1425Ter)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26467186	GGAGTCCGAGTTTGATAACTTTGAGGACTGGCTGCACACTTTCAACTTGCTTCGGGGCAAG
606231435	170985	NM_152296.4(ATP1A3):c.2267G>A (p.Arg756His)	ATP1A3	Sep 08, 2017	MedGen:C3553788,OMIM:614820;MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517;MedGen:CN517202	Alternating hemiplegia of childhood 2;Dystonia 12;not provided	de novo;germline	19	41970539	CCTGCTCTGAGCCTGCCTGTGCCACAGGCCGCCTGATCTTCGACAACCTAAAGAAGTCCAT
780883601	361161	NM_000028.2(AGL):c.3836+1G>A	AGL	Jun 02, 2015	MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease type III	germline	1	99910848	TAGAAACAGAGGAATCCCAGCCACACCAAGGTAGTGTAAATGTTATAATGCTGTGTAATTA
886042354	266475	NM_001848.2(COL6A1):c.931-1G>A	COL6A1	Aug 25, 2015	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45990257	ACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTG
397515322	48373	NM_001382.3(DPAGT1):c.161+5G>A	DPAGT1	Nov 08, 2012	MedGen:C2931004,OMIM:608093,Orphanet:ORPHA86309	Congenital disorder of glycosylation type 1J	germline	11	119101490	CTCAACAAAACCAGCCGACAGCAGATGTGAGCAGCGGCACACGGGTCCGGGCAGGGGGCAA
587779593	107053	NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991041	ATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGTAAATCACAACAA
587780586	139369	NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln)	SCN8A	Feb 24, 2017	MedGen:C3281191,OMIM:614558;MedGen:CN517202	Early infantile epileptic encephalopathy 13;not provided	de novo;germline	12	51765675	TTTGTTTGGGTTTTTTTTTTCCTTAGCTCCGAGTCTTCAAATTGGCCAAATCCTGGCCCAC
779326570	247468	NM_003394.3(WNT10B):c.632G>A (p.Arg211Gln)	WNT10B	Aug 16, 2016	MedGen:C4310730,OMIM:617073	Tooth agenesis, selective, 8	germline	12	48968025	ATGACATGGACTTTGGAGAGAAGTTCTCTCGGGATTTCTTGGATTCCAGGGAAGCTCCCCG
137853250	25912	NM_000284.3(PDHA1):c.1133G>A (p.Arg378His)	PDHA1	Jan 01, 1991	MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243	Pyruvate dehydrogenase E1-alpha deficiency	germline	X	19359613	TCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTC
121964907	15261	NM_000027.3(AGA):c.179G>A (p.Gly60Asp)	AGA	Dec 15, 1991	Human Phenotype Ontology:HP:0012068,MedGen:C0268225,OMIM:208400	Aspartylglucosaminuria	germline	4	177440375	GAGGCTCTGCCCTGGATGCAGTGGAGAGCGGCTGTGCCATGTGTGAGAGAGAGCAGTGTGA
180177231	200505	NM_000030.2(AGXT):c.518G>A (p.Cys173Tyr)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240871443	TGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGG
80224560	47062	NM_000492.3(CFTR):c.2657+5G>A	CFTR	Jul 28, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN517202;MedGen:CN169374	Cystic fibrosis;Hereditary pancreatitis;not provided;not specified	germline;unknown	7	117602868	TTGGTTGTGCTGTGGCTCCTTGGAAAGTGAGTATTCCATGTCCTATTGTGTAGATTGTGTT
794728366	197291	NM_000238.3(KCNH2):c.1193G>A (p.Trp398Ter)	KCNH2	Jan 13, 2016	MedGen:CN517202	not provided	germline	7	150952789	ACAAGCTGCAGGCACCGCGCATCCACCGCTGGACCATCCTGCATTACAGCCCCTTCAAGGC
137852639	24299	NM_001166107.1(HMGCS2):c.1373G>A (p.Arg458His)	HMGCS2	Jul 01, 2001	MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency	germline	1	119750830	GGTACCTGGAGCGAGTGGACGAGCAGCATCGCCGAAAGTATGCCCGGCGTCCCGTCTAAAG
201102492	181268	NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln)	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN517202	Familial hypercholesterolemia;not provided	germline;not applicable;unknown	19	11116937	TCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCT
1131692180	424232	NM_032354.4(TMEM107):c.274+1G>A	TMEM107	Jul 13, 2017	MedGen:CN317534,OMIM:617562	Meckel syndrome 13	germline	17	8175756	CCATGTTCAACAGCACCCAGAGCCTCATCTGTATCCTTTCTGCCTGCCCACCTTTCCCACA
876658235	235666	NM_001042492.2(NF1):c.3941G>A (p.Trp1314Ter)	NF1	Jan 16, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31235988	TATTACGAATTGTGATCACATCCTCTGATTGGCAACATGTTAGCTTTGAAGTGGATCCTAC
655423	48075	NM_001567.3(INPPL1):c.2415+1G>A	INPPL1	Feb 04, 2013	MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:254068007;MedGen:C0432219,OMIM:258480,Orphanet:ORPHA2746,SNOMED CT:254068007	Opsismodysplasia;Opsismodysplasia	germline;inherited	11	72234616	GTGCAGTGGTCTTCACGCCAGCTGCCCACGGTGAGGCTGTGGGCAGGGCCCCTGCTTATGG
17089782	214342	NM_006346.3(PIBF1):c.1214G>A (p.Arg405Gln)	PIBF1	Nov 09, 2017	MedGen:CN601375,OMIM:617767;Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	JOUBERT SYNDROME 33;Joubert syndrome	germline;unknown	13	72835359	TTCGAAATGCCTCTAGGGAAATGTATGAACGAGAAAACAGGTAAAAAAAAAAAAATGCTTG
752034900	187199	NM_001098.2(ACO2):c.1981G>A (p.Gly661Arg)	ACO2	Apr 02, 2015	MedGen:C4225384,OMIM:616289	Optic atrophy 9	germline	22	41527315	CAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCC
137852749	23845	NM_001204.6(BMPR2):c.1472G>A (p.Arg491Gln)	BMPR2	Oct 24, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN169374	Primary pulmonary hypertension;not specified	germline	2	202552774	AAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGCACAGTGTGCTGAGGAAAGGAT
886044406	274507	NM_004006.2(DMD):c.3413G>A (p.Trp1138Ter)	DMD	Aug 25, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009	Becker muscular dystrophy	germline	X	32463458	AGACAGAACTCAAAGAACTTAACACTCAGTGGGATCACATGTGCCAACAGGTATAGACAAT
121909622	31429	NM_005141.4(FGB):c.1289G>A (p.Gly430Asp)	FGB	Feb 15, 2000	MedGen:C2584774,OMIM:202400,Orphanet:ORPHA98880	Afibrinogenemia, congenital	germline	4	154570463	CCAGAAAACAGTGTTCTAAAGAAGACGGTGGTGGATGGTGGTATAATAGATGTCATGCAGC
387906592	38552	NM_001613.2(ACTA2):c.536G>A (p.Arg179His)	ACTA2	Mar 16, 2017	MedGen:C2673186,OMIM:611788;MedGen:C0009782;MedGen:C3279690,OMIM:614042;MedGen:C3151201,OMIM:613834,Orphanet:ORPHA404463;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN239849;MedGen:CN517202	Aortic aneurysm, familial thoracic 6;Connective tissue disorder;Moyamoya disease 5;Multisystemic smooth muscle dysfunction syndrome;Thoracic aortic aneurysm and aortic dissection;alterations of great arteries and veins;not provided	germline;unknown	10	88941309	AGGGCTATGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGA
137852726	18646	NM_024757.4(EHMT1):c.3218G>A (p.Cys1073Tyr)	EHMT1	Oct 05, 2010	MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Chromosome 9q deletion syndrome	germline	9	137814468	TGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCTCAGCATGCGCTGCTG
387907371	26814	NM_001110556.1(FLNA):c.5217G>A (p.Thr1739=)	FLNA	May 02, 2013	Gene:54114,MedGen:C1846129,OMIM:300244,Orphanet:ORPHA88630	Terminal osseous dysplasia	germline	X	154354825	GCACGTGCCCAACAGCCCCTTCCAAGTGACGGTGAGGAGGGGTGGGGGGTAGGTCAGCAGG
267607477	39676	NM_175053.3(KRT74):c.1444G>A (p.Asp482Asn)	KRT74	Apr 01, 2011	MedGen:C3151432,OMIM:613981;MedGen:CN517202	Hypotrichosis 3;not provided	germline	12	52567115	AGCTACCACCACCCCAGCTCTGCGGGTGTTGACCTTGGGGCCAGCGCTGTGGCAGGCAGCT
72648356	32368	NM_000088.3(COL1A1):c.1598G>A (p.Gly533Asp)	COL1A1	Oct 01, 1994	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	unknown	17	50194365	CTGGTGAAGCTGGTCGTCCCGGTGAAGCTGGTCTGCCTGGTGCCAAGGTGAGGCCCCAGGC
-1	445810	NM_000088.3(COL1A1):c.3046G>A (p.Gly1016Arg)	COL1A1	Oct 30, 2017	MedGen:CN517202	not provided	germline	17	50188795	ACTCTCACTTCTCTCTCTCTCTCTCTGCAGGGGGCTCCTGGTGCCGAAGGTTCCCCTGGAC
886039328	259772	NM_000094.3(COL7A1):c.7442G>A (p.Gly2481Asp)	COL7A1	Mar 06, 2017	MedGen:CN517202	not provided	germline	3	48570177	GAGTCAATGAACCTAATGTCACCATCCAGGGTGAAGATGGCCGCCCCGGCCAGGAGGGACC
762417023	425024	NM_000527.4(LDLR):c.67+1G>A	LDLR	Mar 01, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11089616	CCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTT
1064793984	407531	NM_003165.3(STXBP1):c.84G>A (p.Trp28Ter)	STXBP1	Aug 18, 2015	MedGen:CN517202	not provided	germline	9	127651649	GATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCT
869025179	20915	NM_004836.6(EIF2AK3):c.2985+1G>A	EIF2AK3	Sep 01, 2003	MedGen:C0432217,OMIM:226980,Orphanet:ORPHA1667,SNOMED CT:254066006	Wolcott-Rallison dysplasia	germline	2	88570873	GGGACCAAACTGTATATGAGCCCAGAGCAGGTGAGTTTTTCAGACCTTTACTTACTAGCAC
104893712	23389	NM_000388.3(CASR):c.1810G>A (p.Glu604Lys)	CASR	Mar 29, 2017	MedGen:C0342345,OMIM:601198;MedGen:CN517202	Hypocalcemia, autosomal dominant 1;not provided	germline	3	122283764	AACCACACCTCCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGA
192366176	439906	NM_000441.1(SLC26A4):c.1707+5G>A	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791	Enlarged vestibular aqueduct	germline	7	107700180	GTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAAC
137853044	22110	NM_006009.3(TUBA1A):c.1205G>A (p.Arg402His)	TUBA1A	Dec 04, 2015	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011	Lissencephaly 3	germline	12	49185161	ACCACAAGTTTGACCTGATGTATGCCAAACGTGCCTTTGTTCACTGGTACGTTGGGGAGGG
397514343	46851	NM_000060.4(BTD):c.236G>A (p.Arg79His)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004;MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency;Biotinidase deficiency	not provided	3	15635615	TGAGTCTGAACCCTCTGGCTCTCATCAGCCGCCAAGAGGCCTTGGAGCTCATGAACCAGAA
721048	16403	NM_001142615.2(EHBP1):c.1185+30064G>A	EHBP1	Mar 01, 2008	MedGen:C2678479,OMIM:611868	Prostate cancer, hereditary, 12	germline	2	62904596	GAACCCCTGAGGATTATCAAGGTCCCTTGGGGAATAAGGACCTCAGTGTGGAACAGGAGCC
879253807	214886	NM_000282.3(PCCA):c.184-1G>A	PCCA	Jan 01, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	13	100111840	TTTCTAATGAATGTGTTTTTTCTCTCTTCAGACTTTTGATAAAATTCTTGTTGCTAATAGA
886039689	259886	NM_000089.3(COL1A2):c.2567G>A (p.Gly856Glu)	COL1A2	Jul 25, 2016	MedGen:CN517202	not provided	germline	7	94424337	ATAATACTCAGTATTTTTTCTCTATTTAGGGACCTCCTGGCACTCCAGGTCCTCAGGGTCT
786203451	410126	NM_032043.2(BRIP1):c.2493-1G>A	BRIP1	Nov 07, 2014	MedGen:CN517202	not provided	germline	17	61693513	AATTATTTGACTTTTTCCCTATTTTTTCTAGATGTATTAGACACAGAAATGATTGGGGAGC
786204841	187221	NM_012130.3(CLDN14):c.694G>A (p.Gly232Arg)	CLDN14	Feb 01, 2012	MedGen:C3279660,OMIM:614035	Deafness, autosomal recessive 29	germline	21	36461002	GCCCCCTCAGTGACCTCGGCCACGCACAGCGGGTACAGGCTGAACGACTACGTGTGAGTCC
121913503	362866	NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys)	IDH2	Feb 16, 2018	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0010796,MedGen:C0677865;MeSH:D015179,MedGen:CN236642;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:D009190,MedGen:C0026986,OMIM:614286;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004	Acute myeloid leukemia;Brainstem glioma;Colorectal Neoplasms;Hepatocellular carcinoma;Myelodysplastic syndrome;Neoplasm of brain	somatic	15	90088606	CTGGCTGGACCAAGCCCATCACCATTGGCAGGCACGCCCATGGCGACCAGGTAGGCCAGGG
104893657	28823	NM_013953.3(PAX8):c.92G>A (p.Arg31His)	PAX8	May 01, 1998	Human Phenotype Ontology:HP:0008188,MedGen:C1563716,OMIM:218700	Thyroid agenesis	germline	2	113246853	TGAATGGCAGACCTCTGCCGGAAGTGGTCCGCCAGCGCATCGTAGACCTGGCCCACCAGGG
104886228	35971	NM_000495.4(COL4A5):c.3427G>A (p.Gly1143Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108665560	AAAGGTATTAGTGGCCCTCCTGGGAACCCCGGCCTTCCAGGAGAACCTGGTCCTGTAGGTA
771672410	199303	NM_001256850.1(TTN):c.43383G>A (p.Trp14461Ter)	TTN	Jun 23, 2014	MedGen:CN517202	not provided	germline	2	178616485	TGAAAAACGAGAAGTCAGCCGGAAAACATGGACTAAAGTGAGTTTTGAGCAGCACTGCATC
122453115	26739	NM_005629.3(SLC6A8):c.259G>A (p.Gly87Arg)	SLC6A8	Jul 01, 2004	MedGen:C1845862,OMIM:300352,Orphanet:ORPHA52503	Creatine deficiency, X-linked	germline	X	153688833	CGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTC
121913009	31852	NM_001943.4(DSG2):c.1520G>A (p.Cys507Tyr)	DSG2	Jul 01, 2006	MedGen:C1857777,OMIM:610193	Arrhythmogenic right ventricular cardiomyopathy, type 10	germline	18	31536298	CCACACTGATAGAGCCTGTGCAGACAATCTGTCACGATGCAGAGTATGTGAATGTTACTGC
786204392	186425	NM_004572.3(PKP2):c.1170+1G>A	PKP2	Jan 18, 2016	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1836906,OMIM:609040	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9	germline	12	32868926	TGCTTCCAGAAATCTGAAGCTCGGAAGAGGGTGAGTGTCATCTTCAGTCCATTGCAAAGCG
104886130	35782	NM_000495.4(COL4A5):c.1736G>A (p.Gly579Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597525	CAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGCTTCCTGGCCC
28999970	27583	NM_001128177.1(THRB):c.1034G>A (p.Gly345Asp)	THRB	May 01, 1994	na	Thyroid hormone resistance, generalized	germline	3	24127609	CAGTGACACGGGGCCAGCTGAAAAATGGGGGTCTTGGGGTGGTGTCAGACGCCATCTTTGA
1060503328	394398	NM_000038.5(APC):c.471G>A (p.Trp157Ter)	APC	Jun 14, 2016	MedGen:C2713442,OMIM:175100;MedGen:CN517202	Familial adenomatous polyposis 1;not provided	germline;unknown	5	112775677	TCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAA
1057517364	357341	NM_000128.3(F11):c.326-1G>A	F11	Oct 14, 2016	MedGen:C0015523,OMIM:612416,Orphanet:ORPHA329,SNOMED CT:49762007	Hereditary factor XI deficiency disease	unknown	4	186274115	AGGTACTCATGTCTTCTGCTTTTATTTCCAGCTTGCAACAAAGACATTTATGTGGACCTAG
749704755	424648	NM_152778.2(MFSD8):c.416G>A (p.Arg139His)	MFSD8	Jan 06, 2017	MedGen:C1838571,OMIM:610951,Orphanet:ORPHA228366	Ceroid lipofuscinosis neuronal 7	paternal	4	127943775	CTCATAATAAATACTACATGCTGGTTGCTCGTGGATTGTTGGGAATTGGAGCAGGTAAGGT
137853238	29970	NM_000545.6(HNF1A):c.815G>A (p.Arg272His)	HNF1A	Apr 26, 2017	MedGen:C2675866,OMIM:612520;MedGen:CN240909;MedGen:CN517202	Diabetes mellitus, insulin-dependent, 20;Monogenic diabetes;not provided	germline	12	120994265	TGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGC
281865031	17807	NM_024312.4(GNPTAB):c.2715+1G>A	GNPTAB	May 10, 2012	MedGen:C0033788,OMIM:252600,Orphanet:ORPHA423461,SNOMED CT:65764006	Pseudo-Hurler polydystrophy	germline	12	101764201	AAAAAAAAGTATTTCCAAGATCTTCTCGACGTAAGTAACATCCAGCCTCATTCTTTCTCAT
727504295	49143	NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr)	SOS1	Aug 11, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	2	39023106	GTTGGGAGGGAAAAGACATTGGACAGTGTTGTAATGAATTTATAATGGAAGGAACTCTTAC
886042581	267470	NM_001130987.1(DYSF):c.5174+1G>A	DYSF	Sep 04, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	Limb-girdle muscular dystrophy, type 2B	germline	2	71664439	TCGCTGTGGACTCCCACAGACCTACTGTGTGTACGTGGATGGGGGCTGGCTGCCTGCTTCT
104886075	35652	NM_000495.4(COL4A5):c.655G>A (p.Gly219Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108578087	AATGGAAACTTCTCTCTCCAGGGGAATATGGGCTTAAATTTCCAGGGACCCAAAGGTGAAA
1064794069	411443	NM_000044.4(AR):c.2450-1G>A	AR	Aug 14, 2015	MedGen:CN517202	not provided	germline	X	67722826	CCCTCCCCATTCTGTCTTCATCCCACATCAGTTCCAGTGGATGGGCTGAAAAATCAAAAAT
368841777	425392	NM_022336.3(EDAR):c.442+1G>A	EDAR	Jun 16, 2017	MedGen:CN517202	not provided	germline	2	108923367	GCCTCCTGGCACCCCCCAACACCAAGGAATGTGAGTGTCTTTGTCCTTCCACCAGCACGGT
864622161	222572	NM_000267.3(NF1):c.1185+1G>A	NF1	Nov 08, 2016	MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED CT:92824003	Neurofibromatosis, type 1	germline	17	31201160	ATAAGCCCTCACAACAACCAACACTTTAAGGTGAGAGCATTGGTTTTTATCTAACTATATT
199473384	78481	NM_000891.2(KCNJ2):c.653G>A (p.Arg218Gln)	KCNJ2	Jun 22, 2017	MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED CT:422348008;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Andersen Tawil syndrome;Congenital long QT syndrome;not provided	germline;unknown	17	70175692	TGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGCCACTTGGTGGAAGCTCATGTTCG
587779432	106864	NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004100	CTGGAGTGTCTGGACCAAAAGGTGATGCTGGCCAACCAGGAGAGAAGGGATCGCCTGGTGC
80356508	21444	NM_001457.3(FLNB):c.679G>A (p.Glu227Lys)	FLNB	Oct 09, 2008	MedGen:C0175778,SNOMED CT:63387002;MedGen:C1835564,OMIM:150250	Larsen syndrome;Larsen syndrome, dominant type	germline	3	58081668	CCTGAAGAAATCATTCACCCGGATGTGGACGAGCACTCAGTTATGACTTACCTGTCCCAGT
104893700	23368	NM_000388.3(CASR):c.2009G>A (p.Gly670Glu)	CASR	Aug 01, 1997	MedGen:C1832615,OMIM:239200,Orphanet:ORPHA417	Neonatal severe hyperparathyroidism	germline	3	122283963	GCTGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCG
137854505	24066	NM_178138.5(LHX3):c.672G>A (p.Trp224Ter)	LHX3	May 01, 2007	MedGen:C1857330,OMIM:221750	Pituitary hormone deficiency, combined 3	germline	9	136198755	GCTGAAGAAGGACGCCGGCCGGCAGCGCTGGGGGCAGTATTTCCGCAACATGAAGCGCTCC
201958741	178812	NM_000158.3(GBE1):c.1544G>A (p.Arg515His)	GBE1	Jul 17, 2017	MedGen:C4017118;MedGen:C1849722,OMIM:263570,Orphanet:ORPHA206583;MedGen:CN517202	Adult polyglucosan body neuropathy;Polyglucosan body disease, adult;not provided	germline	3	81577999	TCCTGACTCCTTTTACTCCAGTTATTGATCGTGGAATACAGCTTCATAAAATGATTCGACT
552069173	259747	NM_001298.2(CNGA3):c.1688G>A (p.Arg563His)	CNGA3	May 04, 2016	Human Phenotype Ontology:HP:0000478,MedGen:C4316870;MedGen:CN517202	Abnormality of the eye;not provided	germline;unknown	2	98396858	TGAACATCAAGGGGAGCAAGTCGGGGAACCGCAGGACGGCCAACATCCGCAGCATTGGCTA
587781295	150525	NM_001128425.1(MUTYH):c.393G>A (p.Trp131Ter)	MUTYH	Jun 26, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	1	45333166	TCCTCATGCCAACCCCTTTCCCCCAGTGTGGGTCTCAGAGGTCATGCTGCAGCAGACCCAG
1131691605	421455	NM_000313.3(PROS1):c.1156-1G>A	PROS1	Sep 15, 2015	MedGen:CN517202	not provided	germline	3	93886504	GTTATTTGGTAATTTTTCTTTTTAATTGTAGGTGTCTGTGGAAGAATTAGAACATAGTATT
-1	441794	NM_000548.4(TSC2):c.4990-1G>A	TSC2	Nov 09, 2016	MedGen:CN517202	not provided	germline	16	2087862	GCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTC
267606615	24696	m.9379G>A	MT-CO3	Nov 01, 2002	MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED CT:67434000	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	germline	MT	9379	TAACCAACACACTAACCATATACCAATGATGGCGCGATGTAACACGAGAAAGCACATACCA
121908932	21654	NM_004086.2(COCH):c.1625G>A (p.Cys542Tyr)	COCH	Apr 01, 2008	MedGen:C1832425,OMIM:601369	Deafness, autosomal dominant 9	germline	14	30889763	CAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATG
104895502	16630	NM_001127255.1(NLRP7):c.2078G>A (p.Arg693Gln)	NLRP7	Aug 01, 2009	MedGen:C2931618,OMIM:231090,Orphanet:ORPHA254685	Hydatidiform mole	germline	19	54938095	AACAAAGCTTCCTGAGTGACTCTTCTGTGCGGATTCTTTGTGACCACGTAACCCGTAGCAC
104894431	21035	NM_014252.3(SLC25A15):c.824G>A (p.Arg275Gln)	SLC25A15	May 31, 2012	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	germline	13	40809585	TATATTCTGGACTGAAACCTACTATGATTCGAGCATTCCCTGCCAATGGAGCACTCTTTTT
397517979	364778	NM_206933.2(USH2A):c.1227G>A (p.Trp409Ter)	USH2A	Jun 25, 2017	MedGen:C3151138,OMIM:613809;MedGen:CN517202	Retinitis pigmentosa 39;not provided	germline	1	216324269	TCAAAGGAAGAAGGAAAATAGTTTAGATTGGGAGGACTGGCAATATTTTGCCAGGAATTGT
794727123	191547	NM_004006.2(DMD):c.1704+1G>A	DMD	Oct 12, 2016	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN169374	Becker muscular dystrophy;Duchenne muscular dystrophy;not specified	germline	X	32573744	CTCAAATGGCAACGTCTTACTGAAGAACAGGTGTGTCATGTGTGAGAAACTAGCTGTAAAA
121908090	19320	NM_017838.3(NHP2):c.376G>A (p.Val126Met)	NHP2	May 10, 2012	MedGen:C1857144,OMIM:224230;MedGen:C3151441,OMIM:613987	Dyskeratosis congenita autosomal recessive 1;Dyskeratosis congenita, autosomal recessive 2	unknown	5	178149799	GCAGCCGCAGGCTCCAAGCGCCCCACCTGTGTGATAATGGTCAAGCCCCATGAGGAGTACC
863224120	211553	NM_007103.3(NDUFV1):c.617G>A (p.Cys206Tyr)	NDUFV1	Aug 12, 2014	MedGen:CN517202	not provided	germline	11	67610487	TTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCAT
886039412	260202	NM_000227.4(LAMA3):c.3609+1G>A	LAMA3	Apr 14, 2017	MedGen:CN517202	not provided	germline	18	23928766	AGTGGCATATTATTAGATCATCAGACATGGGTATGCAGTAGTGCATTAATATCAAACAAGA
747656448	389244	NM_000260.3(MYO7A):c.6487G>A (p.Gly2163Ser)	MYO7A	Sep 05, 2017	MedGen:C1838701,OMIM:600060;MedGen:CN517202	Deafness, autosomal recessive 2;not provided	germline	11	77213908	CCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGA
1057517693	359176	NM_001098802.2(CEP78):c.499+5G>A	CEP78	Jan 27, 2017	MedGen:C4310657,OMIM:617236	Cone-rod dystrophy and hearing loss	germline	9	78240369	TCCAATTGGAGATGGAGGTTTAGAAAGTGAGTTTAAATCTCATTTAACTCTTGTCCTATCA
515726145	131945	NM_015474.3(SAMHD1):c.434G>A (p.Arg145Gln)	SAMHD1	Mar 13, 2014	MedGen:C2749659,OMIM:612952	Aicardi Goutieres syndrome 5	germline	20	36935104	TCATTGATACACCTCAATTTCAACGTCTTCGATACATCAAACAGCTGGGAGGTGGTTACTA
80356505	47563	NM_001457.3(FLNB):c.4835G>A (p.Gly1612Asp)	FLNB	Oct 09, 2008	MedGen:CN164251,SNOMED CT:43814000	FLNB-Related Disorders	not provided	3	58136142	CTCCTTATCGCATCCGAGCCACACAGACGGGTGATGCCAGCAAGTGCCTGGCCACGGGTGA
180177265	200548	NM_000030.2(AGXT):c.776+1G>A (p.Met259fs)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240875205	CTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGG
118203966	16125	NM_176812.4(CHMP4B):c.481G>A (p.Glu161Lys)	CHMP4B	Sep 01, 2007	MedGen:C1854311,OMIM:605387	Cataract, posterior polar, 3	germline	20	33851064	AAACCTGTAGGGTTTGGAGAAGAGTTTGACGAGGTGAGTAGTTTTGTACAGATCCCATAAG
121912673	33362	NM_005159.4(ACTC1):c.941G>A (p.Arg314His)	ACTC1	Jun 30, 2015	MedGen:C3150681,OMIM:613424;MedGen:CN517202	Dilated cardiomyopathy 1R;not provided	germline	15	34791163	GCACCACTATGTACCCTGGTATTGCTGATCGTATGCAGAAGGAAATCACTGCTCTGGCTCC
780022652	357230	NM_004543.4(NEB):c.3987+1G>A	NEB	Jul 29, 2016	MedGen:C1850569,OMIM:256030	Nemaline myopathy 2	unknown	2	151674476	GCCAAGGCATCGAGAAACATTGCCAGTGATGTGAGTACAAATTTTAGGTGAAGTTTAGGTG
137852440	25309	NM_000132.3(F8):c.5305G>A (p.Gly1769Arg)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154906488	GATGGCTCCTTTACTCAGCCCTTATACCGTGGAGAACTAAATGAACATTTGGGACTCCTGG
878854410	243883	NM_016239.3(MYO15A):c.3944G>A (p.Gly1315Glu)	MYO15A	Jun 06, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18127077	AGCTCACTCTGCCCCTTTGCTCGGTCAGTGGAGAGAGCGGCTCTGGCAAAACTGAGGCCAC
397516698	53435	NM_001927.3(DES):c.735+1G>A	DES	Jun 23, 2016	MedGen:C1858154,OMIM:604765;MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909	Dilated cardiomyopathy 1I;Myofibrillar myopathy 1	germline	2	219420347	ATCGCGTTCCTTAAGAAAGTGCATGAAGAGGTATACCTTGGCCCCTCTTCCTGGGGTCACT
1131690826	420620	NM_144997.5(FLCN):c.780G>A (p.Trp260Ter)	FLCN	Sep 11, 2014	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	17221628	AACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACC
886039720	259773	NM_000094.3(COL7A1):c.5300G>A (p.Gly1767Glu)	COL7A1	Aug 16, 2016	MedGen:CN517202	not provided	germline	3	48579376	AGGGGGACCCAGGTGTCCGAGGCCCAGCAGGAGAAAAGGTGAGAGGGTGTGGGGGTTTCTC
398122828	48375	NM_001854.3(COL11A1):c.3816+1G>A	COL11A1	Dec 19, 2017	MedGen:C0265235,OMIM:154780,SNOMED CT:33410002;MedGen:CN517202	Marshall syndrome;not provided	germline	1	102915630	CCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTA
767399782	213656	NM_006087.3(TUBB4A):c.763G>A (p.Val255Ile)	TUBB4A	Aug 07, 2017	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441;MedGen:CN517202	Leukodystrophy, hypomyelinating, 6;not provided	de novo;germline	19	6495736	CAGCTGAACGCCGACCTGCGCAAGCTGGCCGTCAACATGGTTCCCTTTCCTCGCCTGCACT
104893791	28085	NM_000539.3(RHO):c.448G>A (p.Glu150Lys)	RHO	Aug 04, 2006	MedGen:C4016366	Retinitis pigmentosa 4, autosomal recessive	germline	3	129530962	TGTAAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCA
587776985	65661	NM_001349.3(DARS):c.1379G>A (p.Arg460His)	DARS	May 02, 2013	MedGen:C3809008,OMIM:615281,Orphanet:ORPHA363412	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	germline	2	135911174	AGAAAATTAAGGCTTACATTGATTCCTTCCGCTTTGGAGCCCCTCCTCATGCTGGTGGAGG
58762773	29662	NM_000526.4(KRT14):c.1264G>A (p.Glu422Lys)	KRT14	Apr 01, 2000	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	17	41583245	ATCGCCACCTACCGCCGCCTGCTGGAGGGCGAGGACGCCCAGTGAGTCTTGGCCCTCCCCT
863223901	212034	NM_000032.4(ALAS2):c.606G>A (p.Met202Ile)	ALAS2	Jun 23, 2014	MedGen:CN517202	not provided	germline	X	55021084	CGTCTGGTGTAGTAATGATTACCTGGGCATGAGCCGACACCCTCAGGTCTTGCAAGCCACA
59301204	57262	NM_170707.3(LMNA):c.992G>A (p.Arg331Gln)	LMNA	Jul 28, 2017	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	1	156135956	GAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAA
587776401	36043	NM_000495.4(COL4A5):c.4069+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108680957	AGGGGGAACCGGGACTTATTGGTCCTCCAGGTAAGACTTATTCCTGAAGATAGTTATACCT
587781255	143198	NM_000314.6(PTEN):c.379G>A (p.Gly127Arg)	PTEN	Nov 08, 2016	MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	PTEN hamartoma tumor syndrome;not provided	germline	10	87933138	AATCATGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTG
201552310	27195	NM_000500.7(CYP21A2):c.874G>A (p.Gly292Ser)	CYP21A2	Aug 01, 1992	MedGen:C0852654,OMIM:201910	21-hydroxylase deficiency	germline	6	32040140	GTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCT
121909802	22787	NM_001017535.1(VDR):c.985G>A (p.Glu329Lys)	VDR	Sep 01, 2001	MedGen:C0268690,OMIM:277440,SNOMED CT:72831007	Vitamin D-dependent rickets, type 2	germline	12	47846374	GGACTGAAGAAGCTGAACTTGCATGAGGAGGAGCATGTCCTGCTCATGGCCATCTGCATCG
386134139	51305	NM_000096.3(CP):c.1865-1G>A	CP	Apr 18, 2013	MedGen:C0878682,OMIM:604290,Orphanet:ORPHA48818,SNOMED CT:124224004	Deficiency of ferroxidase	not provided	3	149186733	CTTCCAAAATGTTATTTCCCAACTTTTACAGCCATGAATGGATTCATGTATGGGAATCAGC
80338703	33995	NM_000303.2(PMM2):c.415G>A (p.Glu139Lys)	PMM2	Feb 07, 2017	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002;MedGen:CN517202	Carbohydrate-deficient glycoprotein syndrome type I;not provided	germline	16	8811146	GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATA
112118237	197595	NM_000138.4(FBN1):c.7775G>A (p.Cys2592Tyr)	FBN1	Jan 15, 2013	MedGen:CN517202	not provided	germline	15	48420731	AGAACATCATTGGGGGCTACAGGTGCAGCTGCCCCCAGGGCTACCTCCAGCACTACCAGTG
-1	426791	NM_001171.5(ABCC6):c.4324G>A (p.Ala1442Thr)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16150657	GTGGACCCTGGCACGGAGCTGCAGATGCAGGCCATGCTCGGGAGCTGGTTTGCACAGTGCA
138269726	48494	NM_004525.2(LRP2):c.6160G>A (p.Asp2054Asn)	LRP2	Feb 13, 2013	MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143	Donnai Barrow syndrome	germline	2	169212088	GCCTGTGCCACTGGATTTAAACTCAATCCTGATAATCGGTCCTGCTCTCCATATAACTCTT
267607144	20039	NM_021625.4(TRPV4):c.806G>A (p.Arg269His)	TRPV4	Feb 13, 2017	MedGen:C0007959,Orphanet:ORPHA166,SNOMED CT:50548001;MedGen:C2079540,OMIM:606071;Gene:8094,MedGen:C1838492,OMIM:600175,Orphanet:ORPHA1216;MedGen:C0027868,Orphanet:ORPHA68381;MedGen:CN517202	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 2C;Distal spinal muscular atrophy, congenital nonprogressive;Neuromuscular Diseases;not provided	germline;unknown	12	109800665	CCCAGGGAGCTGATGTCCACGCCCAGGCCCGTGGGCGCTTCTTCCAGCCCAAGGATGAGGG
587777460	143131	NM_003072.3(SMARCA4):c.3533G>A (p.Trp1178Ter)	SMARCA4	Sep 01, 2013	MedGen:C2750074,OMIM:613325	Rhabdoid tumor predisposition syndrome 2	unknown	19	11030880	CAGACACTGTGATCATTTTTGACAGCGACTGGAATCCTCACCAGGTAAAAGCGGGCCGGGC
-1	470545	NM_000033.3(ABCD1):c.311G>A (p.Arg104His)	ABCD1	Mar 09, 2017	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153725577	TGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCT
794728213	197827	NM_000138.4(FBN1):c.164+1G>A	FBN1	Sep 02, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN517202	Marfan syndrome;not provided	germline	15	48644605	AGGCGGTGGAGGACACGACGCGCTTAAAGGGTAAAGGAACCGGTTCCCTCCTTTGGTGTGG
281865144	132455	NM_001127464.2(ZNF469):c.337G>A (p.Glu113Lys)	ZNF469	-	MedGen:C1835677,OMIM:148300	Keratoconus 1	germline	16	88427807	CAGGCTCCCTCAAGGCTGGCGGGCAGGGCAGAGGGCAGCCCCCCACAGCGCTACATTCTGG
121918017	28708	NM_000478.5(ALPL):c.892G>A (p.Glu298Lys)	ALPL	Sep 01, 1994	Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Infantile hypophosphatasia	germline	1	21573694	GGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTGACGGACCCGT
431905521	102955	NM_014714.3(IFT140):c.874G>A (p.Val292Met)	IFT140	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:C1849437,OMIM:266920,Orphanet:ORPHA140969	Jeune thoracic dystrophy;Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	germline;maternal	16	1587961	GACATCGCTTTGATTGAAGGCAGCCTTCTCGTGATGGCCGTCGGGGAGGCTGCCCTCAGGT
72656387	44621	NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser)	COL1A2	Nov 17, 2014	MeSH:D010013,MedGen:C0029434,Orphanet:ORPHA666,SNOMED CT:78314001;MedGen:CN517202	Osteogenesis imperfecta;not provided	germline	7	94409367	GTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCC
775557680	193443	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO	Jan 01, 2015	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151001,OMIM:613731	Retinitis pigmentosa;Retinitis pigmentosa 4	germline;unknown	3	129532261	CCCTACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACT
727504893	172924	NM_206933.2(USH2A):c.632G>A (p.Trp211Ter)	USH2A	Dec 23, 2013	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216418533	TGACACTGGGGAGAATTCTTGTGAAGAAATGGATTCATCTTAGTGTGCAGGTGAGTAAAAT
587784264	169351	NM_000430.3(PAFAH1B1):c.399+1G>A	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2667199	GTCTCTGCTTCAGAGGATGCTACAATTAAGGTAATTTTTTGTTAAAAGCAGACTTAACGGG
1085307124	413892	NM_030916.2(NECTIN4):c.724G>A (p.Val242Met)	NECTIN4	Jan 24, 2018	MedGen:C3150807,OMIM:613573,Orphanet:ORPHA247820	Ectodermal dysplasia-syndactyly syndrome 1	germline	1	161077459	CAGGACCAAAGGATCACCCACATCCTCCACGTGTCCTGTAAGTACTTGGATGCTTGGGTAG
786205153	187688	NM_002334.3(LRP4):c.3697G>A (p.Glu1233Lys)	LRP4	Apr 27, 2015	MedGen:C4225377,OMIM:616304	Myasthenic syndrome, congenital, 17	germline	11	46875806	TCCCAACTGCTATGGGCCGATGCCCACACCGAGGTGAGAGCCGTGTCCCTGCTGCTTCCCA
104894011	441101	NM_000162.4(GCK):c.793G>A (p.Glu265Lys)	GCK	Jan 11, 2017	MedGen:CN517202	not provided	germline	7	44147720	ACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGACGAGTTCCTGCTGGAGTATGACC
387907082	39992	NM_001083961.1(WDR62):c.1313G>A (p.Arg438His)	WDR62	Nov 01, 2010	MedGen:C1858535,OMIM:604317	Primary autosomal recessive microcephaly 2	germline	19	36081512	TTCTGACTTGTTCTTCAGACAACACCATTCGCTTCTGGAACTTGGACAGCAGCCCTGATTC
267607509	77381	NM_002055.4(GFAP):c.382G>A (p.Asp128Asn)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915105	GCTGAGCTGCGAGAGCTGCGGCTGCGGCTCGATCAACTCACCGCCAACAGCGCCCGGCTGG
121908818	451965	NM_017849.3(TMEM127):c.158G>A (p.Trp53Ter)	TMEM127	Jul 06, 2017	MedGen:C1708353,Orphanet:ORPHA29072	Hereditary Paraganglioma-Pheochromocytoma Syndromes	germline	2	96265224	CGCTGTGCACTGCCCTCGCCGAGCCCGCCTGGTTGCACATCCACGGAGGCACCTGTTCGCG
375817528	227583	NM_001198868.1(CAPN1):c.1605+5G>A	CAPN1	May 09, 2016	MedGen:C4310800,OMIM:616907	Spastic paraplegia 76, autosomal recessive	germline	11	65206824	AGATCCAGGCCAATCTCCCCGATGAGGTGCGTGGTCCCACCCCACCAGGCCCCGTCCTCCT
1064796460	481496	NM_006009.3(TUBA1A):c.1169G>A (p.Arg390His)	TUBA1A	Nov 16, 2017	MedGen:C1969029,OMIM:611603,Orphanet:ORPHA102011	Lissencephaly 3	de novo	12	49185197	ACACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCACAAGTTTGACCTGATGTATGC
111033660	46835	NM_000155.3(GALT):c.247G>A (p.Gly83Arg)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647253	CCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTG
606231442	170973	NM_152296.4(ATP1A3):c.2600G>A (p.Gly867Asp)	ATP1A3	May 04, 2014	MedGen:C3553788,OMIM:614820;MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Alternating hemiplegia of childhood 2;Dystonia 12	de novo	19	41969523	TCTCTTACTTTGTGATCCTGGCAGAAAATGGCTTCTTGCCCGGCAACCTGGTGGGCATCCG
121913023	31826	NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn)	ERCC2	Aug 01, 2001	MedGen:C1853102,OMIM:610756	Cerebrooculofacioskeletal syndrome 2	germline	19	45352511	AAGACGGACTACGGCCTCATGGTCTTTGCCGACAAGGTGCAGCTTCAGGGGTGCCCCTGTG
121913651	29158	NM_000257.3(MYH7):c.1447G>A (p.Glu483Lys)	MYH7	Jul 24, 2017	MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569	Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy	germline	14	23428631	TTTGAGCAGCTCTGCATCAACTTCACCAACGAGAAGCTGCAGCAGTTCTTCAACCACCACA
387907209	40612	NM_020297.3(ABCC9):c.3461G>A (p.Arg1154Gln)	ABCC9	Mar 31, 2017	MedGen:C1837839,OMIM:608569;MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517;MedGen:CN517202	Dilated cardiomyopathy 1O;Hypertrichotic osteochondrodysplasia;not provided	germline	12	21842326	TTGCCTTTTATTTTATCCAGAAATACTTTCGGGTTGCCTCTAAGTAAGTAAAACAGCATCC
1057519467	362116	NM_000520.5(HEXA):c.1432G>A (p.Gly478Arg)	HEXA	Mar 22, 2011	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72345540	ACATGCCCCTTTTCCTCCAGGCCCAGAGCAGGGGCTGTTGCCGAAAGGCTGTGGAGCAACA
587783772	170043	NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln)	MTM1	Sep 07, 2017	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001;MedGen:CN517202	Severe X-linked myotubular myopathy;not provided	germline	X	150659665	AAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGA
587776602	19639	NM_020427.2(SLURP1):c.178+1G>A	SLURP1	Apr 01, 2001	MedGen:C0025221,OMIM:248300,Orphanet:ORPHA87503,SNOMED CT:239069005	Acroerythrokeratoderma	germline	8	142741802	GCATGACCACGCTGGTGACGGTGGAGGCAGGTGAGGCCAGGCCCCACGGCAGCCCTGGGTG
797044669	192188	NM_000169.2(GLA):c.369+1G>A	GLA	Apr 01, 2015	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101403810	CCTCATGGGATTCGCCAGCTAGCTAATTATGTGAGTTTATAGATAATGTTCTTGTTCATTC
776556963	259237	NM_013448.2(BAZ1A):c.3278G>A (p.Arg1093Gln)	BAZ1A	-	MedGen:CN238521	VATER/VACTERL association with CNS malformations	de novo	14	34771534	CACTCTTTCAAATAGAGCAGGGCATTGAGCGGCGTTTTCTGAAAGCTCCACTTGGTAAGTA
397516283	52308	NM_000260.3(MYO7A):c.1200+1G>A	MYO7A	Aug 17, 2010	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77160283	GCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGC
-1	439580	NM_182972.2(IRF2BP2):c.1652G>A (p.Ser551Asn)	IRF2BP2	Nov 13, 2017	MedGen:CN615280,OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14	germline	1	234607249	AGGGAGCTAGTGGAGAGGTCTATTGTCCCAGTGGGGAAAAATGCCCTCTTGTGGGCTCCAA
199474667	24638	m.3249G>A	MT-TL1	Jun 11, 2010	MedGen:C0022541,OMIM:530000,Orphanet:ORPHA480	Kearns Sayre syndrome	germline	MT	3249	GAACAGGGTTTGTTAAGATGGCAGAGCCCGGTAATCGCATAAAACTTAAAACTTTACAGTC
587783130	166513	NM_003159.2(CDKL5):c.73G>A (p.Gly25Arg)	CDKL5	Oct 15, 2012	MedGen:CN517202	not provided	germline	X	18510828	TGTTTACTTCTTTTTATTATAGGAGCCTATGGAGTTGTACTTAAATGCAGACACAAGGCAA
151344631	45847	NM_000218.2(KCNQ1):c.613G>A (p.Val205Met)	KCNQ1	Apr 05, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2571333	CCCCCTCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCG
104886229	25497	NM_000495.4(COL4A5):c.3428G>A (p.Gly1143Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	germline	X	108665561	AAGGTATTAGTGGCCCTCCTGGGAACCCCGGCCTTCCAGGAGAACCTGGTCCTGTAGGTAA
587779689	107196	NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189002308	GAGGATATTTTTCTCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTT
886041010	263164	NM_006087.3(TUBB4A):c.731G>A (p.Gly244Asp)	TUBB4A	Jul 05, 2016	MedGen:C2676244,OMIM:612438,Orphanet:ORPHA139441	Leukodystrophy, hypomyelinating, 6	germline	19	6495768	GCGGGGTCACCACCTGCCTGCGCTTCCCGGGCCAGCTGAACGCCGACCTGCGCAAGCTGGC
606231255	167369	NM_001145306.1(CDK6):c.589G>A (p.Ala197Thr)	CDK6	Dec 20, 2013	MedGen:C4015156,OMIM:616080	Primary autosomal recessive microcephaly 12	germline	7	92671484	GCACCCGAAGTCTTGCTCCAGTCCAGCTACGCCACCCCCGTGGATCTCTGGAGTGTTGGCT
-1	442186	NM_000435.2(NOTCH3):c.164G>A (p.Cys55Tyr)	NOTCH3	Jun 14, 2016	MedGen:CN517202	not provided	germline	19	15197533	ACGGAAGCCCGTGTGCAAATGGAGGTCGTTGCACCCAGCTGCCCTCCCGGGAGGCTGCCTG
104886177	35854	NM_000495.4(COL4A5):c.2386G>A (p.Gly796Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108606883	CCAGGACGCACTGGCTTAGATGGGCTCCCTGGACCAAAAGGTATGGAGGCTGTCACTGCAT
397508175	67881	NM_000492.3(CFTR):c.1203G>A (p.Trp401Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117542102	AGTAGTGATGGAGAATGTAACAGCCTTCTGGGAGGAGGTCAGAATTTTTAAAAAATTGTTT
1060501455	395005	NM_001369.2(DNAH5):c.8465G>A (p.Trp2822Ter)	DNAH5	Jun 04, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13788898	TATACTTTCAACAGGATCTGTTAAAGCTGTGGAAGCATGAGTGTAAACGTGTTATAGCTGA
864321710	217262	NM_172107.3(KCNQ2):c.388G>A (p.Glu130Lys)	KCNQ2	-	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	de novo	20	63445364	CAAGGTGGCCTCAGCTTTCCTCCCCTGCAGGAAATCGTGACTATCGTGGTGTTTGGCGTGG
267606722	22166	NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117594977	TATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCAC
121908011	18814	NM_000372.4(TYR):c.1147G>A (p.Asp383Asn)	TYR	Mar 10, 2015	MedGen:C1847024,OMIM:606952,Orphanet:ORPHA79434;MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Oculocutaneous albinism type 1B;Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89227933	ACAATGTCCCAGGTACAGGGATCTGCCAACGATCCTATCTTCCTTCTTCACCATGCATTTG
661	33166	NM_000021.3(PSEN1):c.1229G>A (p.Cys410Tyr)	PSEN1	Jun 29, 1995	MedGen:C1843013,OMIM:607822;MedGen:CN517202	Alzheimer disease, type 3;not provided	germline	14	73217225	CCAGTGGAGACTGGAACACAACCATAGCCTGTTTCGTAGCCATATTAATTGTAAGTATACA
765191836	194512	NM_024592.4(SRD5A3):c.603G>A (p.Trp201Ter)	SRD5A3	Nov 19, 2014	MedGen:C3150191,OMIM:612379,Orphanet:ORPHA324737	Congenital disorder of glycosylation type 1Q	germline	4	55367628	AGGGAAAAATCTATTGATGCAAGCACGGTGGTTCCATATTCTTGGGATGATGATGTTCATC
77932196	22221	NM_000492.3(CFTR):c.1040G>A (p.Arg347His)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN517202;MedGen:CN169374	Cystic fibrosis;not provided;not specified	germline;unknown	7	117540270	TCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGC
1131691700	421765	NM_000264.4(PTCH1):c.2561-1G>A	PTCH1	Apr 27, 2017	MedGen:CN517202	not provided	germline	9	95461999	ATAATGTGTTACAATCATTTGCCATTTCTAGGACTTCAGGATGCATTTGACAGTGACTGGG
1131692314	424515	NM_000280.4(PAX6):c.794G>A (p.Trp265Ter)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	maternal	11	31793774	AGGTATGGTTTTCTAATCGAAGGGCCAAATGGAGAAGAGAAGAAAAACTGAGGAATCAGAG
762411583	224715	NM_000203.4(IDUA):c.590-7G>A	IDUA	Feb 11, 2016	MedGen:C0023786,Orphanet:ORPHA579	Mucopolysaccharidosis type I	germline	4	1001672	CCAGGGCAGGTGTAGACGCAGTGCTCCCCCGGCCCAGGCTTCCTGAACTACTACGATGCCT
886041695	264990	NM_000444.5(PHEX):c.1080-1G>A	PHEX	May 11, 2016	MedGen:CN517202	not provided	germline	X	22111466	ACAATAAATGGGCATCTCTCTCTGTTAACAGGACCATTGCCAACTATTTGGTGTGGAGAAT
192838388	98283	NM_000050.4(ASS1):c.787G>A (p.Val263Met)	ASS1	Jun 16, 2017	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187;MedGen:CN517202	Citrullinemia type I;not provided	germline;unknown	9	130480398	ACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCT
181195449	39140	NR_023343.1(RNU4ATAC):n.50G>A	RNU4ATAC	Apr 08, 2011	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	Osteodysplastic primordial dwarfism, type 1	germline	2	121530929	TTGCGCTACTGTCCAATGAGCGCATAGTGAGGGCAGTACTGCTAACGCCTGAACAACACAC
72658198	457645	NM_000089.3(COL1A2):c.2565+1G>A	COL1A2	Jun 27, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94423119	AAGGGTCCCTCTGGAGAGGCTGGTACTGCTGTAAGTGATTTCCAACTCCTCTTTCTTAATA
199473062	78820	NM_198056.2(SCN5A):c.481G>A (p.Glu161Lys)	SCN5A	Oct 26, 2016	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005	Brugada syndrome	germline	3	38622401	CACGACCCTCCACCCTGGACCAAGTATGTCGAGTGAGTATCTTCAGGGCCTCTTCTCCACG
149089817	197481	NM_000218.2(KCNQ1):c.1336G>A (p.Asp446Asn)	KCNQ1	Oct 24, 2012	MedGen:CN517202	not provided	germline	11	2588797	AAGATGCTCACAGTCCCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACT
777661576	185762	NM_005957.4(MTHFR):c.1753-18G>A	MTHFR	-	MedGen:C1856058,OMIM:236250	Homocysteinemia due to MTHFR deficiency	germline	1	11790916	CTGTGTGTGTGTGCATGTGTGCGTGTGTGCGGGGGTATGTGTGTGTAGGACGAGGCCTTTG
587779688	107195	NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188988648	GTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGA
104893780	28072	NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	RHO	Oct 01, 1991	MedGen:C3151001,OMIM:613731	Retinitis pigmentosa 4	germline	3	129532264	TACCTGCCTGTCCTCAGGTACATCCCCGAGGGCCTGCAGTGCTCGTGTGGAATCGACTACT
587776995	70474	NM_001278689.1(EOGT):c.1130G>A (p.Arg377Gln)	EOGT	Apr 04, 2013	MedGen:C3809092,OMIM:615297	Adams-Oliver syndrome 4	germline	3	68987467	TCACCATTCTTGCACGGAGCACAGAATACCGGAAAATCCTTAACCAAAATGAGGTTAGTTT
1085307159	414086	NM_001204.6(BMPR2):c.77-1G>A (p.A26Efs*9)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464808	ATTTGTCATTCCTTTATTTCCTTTATTTTAGCTTCGCAGAATCAAGAACGGCTATGTGCGT
587779504	106947	NM_000090.3(COL3A1):c.3562G>A (p.Gly1188Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008960	CCAGGCCACCCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGCCCCTGGTCCTTGCTGTG
587779234	94745	NM_000179.2(MSH6):c.2330G>A (p.Trp777Ter)	MSH6	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47800313	CTCCTTTTGGTAAGCGGCTCCTAAAGCAATGGCTTTGTGCCCCACTCTGTAACCATTATGC
137852257	25650	NM_000133.3(F9):c.1069G>A (p.Gly357Arg)	F9	Sep 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139561754	AAATTTGGATCTGGCTATGTAAGTGGCTGGGGAAGAGTCTTCCACAAAGGGAGATCAGCTT
104886112	35736	NM_000495.4(COL4A5):c.1286G>A (p.Gly429Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591178	CTGGACCTCCTGGACTTGACGGACAGCCTGGGGCTCCTGGGCTTCCAGGGCCTCCTGGCCC
886039158	258840	NM_000138.4(FBN1):c.6611G>A (p.Cys2204Tyr)	FBN1	Mar 21, 2016	MedGen:CN118826,Orphanet:ORPHA91387	Thoracic aortic aneurysm and aortic dissection	germline	15	48434599	AGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGGTACATCTCTTAAACAGAGAACAGT
780504025	16144	NM_000642.2(AGL):c.4259+5G>A	AGL	Jul 31, 2000	MedGen:C1968740	Glycogen storage disease IIIb	germline	1	99915491	CTTGGCATGAAAACTTTAGATCCAGAGTAAGTTGGAATATAAGTATTAAGAATGTTATCAT
121909013	22181	NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN236562;MedGen:CN517202	Cystic fibrosis;ivacaftor response - Efficacy;not provided	germline;unknown	7	117587805	CTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGGT
1057517830	360507	NM_000455.4(STK11):c.735-1G>A	STK11	Aug 12, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	19	1221212	CACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTT
80338777	32664	NM_000069.2(CACNA1S):c.1583G>A (p.Arg528His)	CACNA1S	Jul 31, 2017	MedGen:C3714580,OMIM:170400;MedGen:CN517202	Hypokalemic periodic paralysis 1;not provided	germline	1	201077915	CCATGACACCCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCTCCTGAGGATCTTCAAGAT
587780639	139490	NM_000051.3(ATM):c.7788G>A (p.Glu2596=)	ATM	May 03, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	11	108332037	TGTGCCTAAACAAAGCTCTCAGCTTGATGAGGTATTTGGATTAAACATACGTACCTTTTAG
-1	430634	NM_003336.3(UBE2A):c.67G>A (p.Gly23Arg)	UBE2A	Feb 18, 2016	MedGen:C3275464,OMIM:300860,Orphanet:ORPHA163956;MedGen:CN517202	Syndromic mental retardation, Nascimento type, X-linked;not provided	de novo;germline	X	119574923	TCCCGAAGGTTGCAGGAGGATCCTCCAGCCGGAGTCAGCGGGGCTCCGTCCGAGAACAACA
28941782	18277	NM_007171.3(POMT1):c.226G>A (p.Gly76Arg)	POMT1	Nov 01, 2002	MedGen:CN033898,OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	germline	9	131506217	CCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCT
267608122	94980	NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln)	MSH6	Sep 15, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1833477,OMIM:614350;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;not specified	germline;unknown	2	47806651	AGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATGGAATTATAAC
794729661	22121	NM_004336.4(BUB1):c.422+1G>A	BUB1	Mar 19, 1998	MedGen:C4016796	Colorectal cancer with chromosomal instability	germline	2	110672660	ACCCAGAGAGTTCCTGCAACAACAATACAGGTAGTTACAAAGTCAAACTCTCTGTGATGAT
199473704	39593	NM_145068.3(TRPV3):c.1717G>A (p.Gly573Ser)	TRPV3	Mar 09, 2012	MedGen:C2609071,OMIM:614594,Orphanet:ORPHA659;MedGen:CN517202	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques;not provided	germline	17	3524224	CTCTACTATACGCGGGGTTTCCAGTCCATGGGCATGTACAGCGTCATGATCCAGAAGGTGC
63750264	33127	NM_000484.3(APP):c.2149G>A (p.Val717Ile)	APP	Dec 23, 2010	MedGen:C1863052;Human Phenotype Ontology:HP:0002511,MedGen:C0002395,OMIM:104300,SNOMED CT:26929004;MedGen:CN517202	Alzheimer disease, type 1;Alzheimer's disease;not provided	germline	21	25891784	GTGGGCGGTGTTGTCATAGCGACAGTGATCGTCATCACCTTGGTGATGCTGAAGAAGAAAC
28931614	31366	NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3	Jun 26, 2017	MedGen:C0001080,OMIM:100800,Orphanet:ORPHA15,SNOMED CT:86268005;MedGen:C0001080,OMIM:100800,Orphanet:ORPHA15,SNOMED CT:86268005;Human Phenotype Ontology:HP:0001363,MedGen:C1849943;Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003;MedGen:CN517202;MedGen:CN169374	Achondroplasia;Achondroplasia;Craniosynostosis;Epidermal nevus;not provided;not specified	germline;somatic	4	1804392	GGCAGTGTGTATGCAGGCATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGG
587779531	106980	NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991049	AATGGAGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGTAAATCACAACAAAAATCATA
281874672	35769	NM_000495.4(COL4A5):c.1598G>A (p.Gly533Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597387	TTTTTCCTTACTCATTTCAGGGCATTCCAGGAGCTCCAGGTGCTCCAGGCTTTCCTGGATC
879253719	28330	NM_000141.4(FGFR2):c.940-1G>A	FGFR2	Jan 01, 2002	MedGen:C1863356,OMIM:101600	Pfeiffer syndrome	germline	10	121517464	AGCCTTTTCTTTTGCTTCCCTTGTTTTCTAGGCCGCCGGTGTTAACACCACGGACAAAGAG
878853106	237433	NM_000016.5(ACADM):c.849+1G>A	ACADM	Feb 23, 2016	MedGen:CN517202	not provided	germline	1	75749560	ATGGGAGCTTTTGATAAAACCAGACCTGTAGTAAGTAATATGGGTTCATAATCTTTATAGG
754594235	481195	NM_145869.1(ANXA11):c.523G>A (p.Gly175Arg)	ANXA11	Jan 29, 2018	MedGen:CN778765,OMIM:617839	AMYOTROPHIC LATERAL SCLEROSIS 23	germline	10	80169007	CAGCCAGTGCCGAGCTACCCAGGATACCCGGGGTCTGGGACTGTCACCCCCGCTGTGCCCC
397514592	48389	NM_001083614.1(EARS2):c.610G>A (p.Gly204Ser)	EARS2	Nov 20, 2012	MedGen:C3554079,OMIM:614924,Orphanet:ORPHA314051	Combined oxidative phosphorylation deficiency 12	germline	16	23535236	GTGGTGCCAGCCTTCCAGGACCTGGTCTATGGCTGGAATAGGCATGAAGTGGCCAGCGTGG
587783672	168869	NM_000525.3(KCNJ11):c.679G>A (p.Glu227Lys)	KCNJ11	Jul 23, 2013	Human Phenotype Ontology:HP:0000819,MedGen:C0011849,SNOMED CT:73211009;MedGen:C4225365,OMIM:616329	Diabetes mellitus;Maturity-onset diabetes of the young, type 13	germline	11	17387413	ATGCAGGTGGTACGCAAGACCACCAGCCCCGAGGGCGAGGTGGTGCCCCTCCACCAGGTGG
121908545	20938	NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	SCN4A	Dec 31, 2014	MedGen:CN074266,OMIM:170500;MedGen:C1868617,OMIM:168300;MedGen:CN517202	Hyperkalemic Periodic Paralysis Type 1;Paramyotonia congenita of von Eulenburg;not provided	germline	17	63941939	AGAAGTACTTCGTGTCACCCACGCTGTTCCGTGTGATCCGCCTGGCGCGGATTGGGCGTGT
104886166	35839	NM_000495.4(COL4A5):c.2228G>A (p.Gly743Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108603045	TTGGTCTAGAAGGCCCTCCTGGGCCACCCGGCTTTCCAGGACCAAAGGTCTGGGACATTTT
137852995	20000	NM_018136.4(ASPM):c.3978G>A (p.Trp1326Ter)	ASPM	Sep 01, 2009	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197117876	TAATGCAGCACTCGTCATTCAGAAATATTGGCGAAGAGTCTTAGCACAGAGAAAATTATTA
121909335	23513	NM_007126.4(VCP):c.476G>A (p.Arg159His)	VCP	Sep 15, 2016	MedGen:C1833662,OMIM:167320,Orphanet:ORPHA52430;MedGen:CN517202	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;not provided	germline	9	35065351	GAGACATTTTTCTTGTCCGTGGTGGGATGCGTGCTGTGGAGTTCAAAGTGGTGGAAACAGA
-1	481786	NM_032415.5(CARD11):c.220+1G>A	CARD11	Dec 19, 2017	MedGen:CN517202	not provided	germline	7	2947574	CTATGCTGCCATCCAAGATCAACCGAGCAGGTAACCTTAGGACCTCTTTGCGGGAGAGGGA
794726859	190155	NM_003042.3(SLC6A1):c.131G>A (p.Arg44Gln)	SLC6A1	May 01, 2016	MedGen:C4085238,OMIM:616421	Myoclonic-atonic epilepsy	germline;maternal	3	11017342	TGCAGAAGAAGGCGGCAGACCTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCCT
387907322	38631	NM_000782.4(CYP24A1):c.476G>A (p.Arg159Gln)	CYP24A1	Nov 09, 2011	MedGen:C0268080,OMIM:143880,SNOMED CT:34225008	Idiopathic hypercalcemia of infancy	germline	20	54171644	ACAGGGAAGGGGAAGACTGGCAGCGGGTCCGGAGTGCCTTTCAAAAGAAACTAATGAAACC
104894784	26646	NM_178152.2(DCX):c.233G>A (p.Arg78His)	DCX	Sep 01, 1999	MedGen:C1848070	Subcortical laminar heterotopia, X-linked	germline	X	111410166	TTGTGTACGCTGTGTCCTCTGACCGTTTTCGCAGCTTTGACGCCTTGCTGGCTGACCTGAC
144332569	150466	NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg)	SLC13A5	Jun 30, 2017	MedGen:C4014621,OMIM:615905	Epileptic encephalopathy, early infantile, 25	germline	17	6703031	ACCCTGTGCATCTGCTACGCGGCCAGCATCGGGGGCACCGCCACCCTGACCGGGACGGGAC
121434468	24643	m.4284G>A	MT-TI	Jan 29, 2015	MedGen:C0559758;MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	Multisystem disorder;Myoclonus with epilepsy with ragged red fibers	germline	MT	4284	TCAAACCTAAGAAATATGTCTGATAAAAGAGTTACTTTGATAGAGTAAATAATAGGAGCTT
67916658	102984	NM_000531.5(OTC):c.1006-1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38421022	CCATTTCTTTCTTTCTTTGTTGTGTCATCAGGCTGTCATGGTGTCCCTGCTGACAGATTAC
121908332	19780	NM_001282534.1(KCNK9):c.706G>A (p.Gly236Arg)	KCNK9	Oct 20, 2017	MedGen:C2676770,OMIM:612292,Orphanet:ORPHA166108;MedGen:CN517202	Birk Barel mental retardation dysmorphism syndrome;not provided	germline;unknown	8	139618677	ATGTATATCCTGGTGGGGCTGACGGTCATCGGGGCCTTCCTCAACCTGGTCGTCCTCAGGT
-1	445823	NM_000088.3(COL1A1):c.751-1G>A	COL1A1	Jun 15, 2017	MedGen:CN517202	not provided	germline	17	50197064	GCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGC
876660558	236140	NM_007294.3(BRCA1):c.1155G>A (p.Trp385Ter)	BRCA1	Sep 08, 2016	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	germline	17	43094376	AAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTGATGAACTGTTAGGTTCT
-1	483116	NM_178170.2(NEK8):c.47+1G>A	NEK8	Feb 14, 2018	MedGen:C3809434,OMIM:615415	Renal-hepatic-pancreatic dysplasia 2	germline	17	28728861	GATCCGAGTGGTGGGGAGAGGTGCCTTCGGGTGAGCCAGGGCTCTGGGGGAGGAAACTGCT
587779679	107184	NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188996162	CCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTT
587777744	166023	NM_152292.4(TRMT10A):c.616G>A (p.Gly206Arg)	TRMT10A	Sep 01, 2014	MedGen:C4014997,OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	germline	4	99553814	GAATTAGATGAATCAAAGGCCTATGTGATTGGAGGATTAGTAGATCACAACCATCACAAGG
397515384	30964	NM_005272.3(GNAT2):c.461+24G>A	GNAT2	Jun 27, 2013	MedGen:C1841721,OMIM:613856	Achromatopsia 4	germline	1	109608607	CATCTTAGTAAGACTGACTGGTGAGAGGGTGGGTTGATGCTTAAGCAATCTTCTAGCCAGT
74315458	34038	NM_000487.5(ARSA):c.257G>A (p.Arg86Gln)	ARSA	Jun 13, 2014	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C4017093	Metachromatic leukodystrophy;Metachromatic leukodystrophy, late-onset	germline	22	50627374	CCGCCCTCCTGACCGGCCGGCTCCCGGTTCGGATGGGCATGTACCCTGGCGTCCTGGTGCC
121908928	21648	NM_004086.2(COCH):c.263G>A (p.Gly88Glu)	COCH	Nov 01, 1998	MedGen:C1832425,OMIM:601369	Deafness, autosomal dominant 9	germline	14	30878834	GTTACAGGGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCG
387906919	39462	NM_016363.5(GP6):c.524G>A (p.Ser175Asn)	GP6	Aug 01, 2009	MedGen:C3280120,OMIM:614201,Orphanet:ORPHA98885	Platelet-type bleeding disorder 11	germline	19	55027664	TTCCCATCATCACGGTGACCGCCGCCCACAGCGGAACCTACCGATGCTACAGCTTCTCCAG
104894553	17655	NM_000049.2(ASPA):c.212G>A (p.Arg71His)	ASPA	Jun 14, 2016	MedGen:CN068568;MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005	Canavan disease, mild;Spongy degeneration of central nervous system	germline;unknown	17	3476371	GTACCAGATATATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATCTTGGGTAAGA
121918236	16468	NM_001177317.1(SLC34A3):c.846G>A (p.Pro282=)	SLC34A3	Sep 30, 2017	MedGen:C0342645,OMIM:241530,SNOMED CT:237891005	Autosomal recessive hypophosphatemic bone disease	germline;maternal	9	137233722	TAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGA
121912921	32262	NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp)	COL3A1	Mar 09, 2000	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188998693	CAATCTCCCAGGGTCCAAAGGGTGATGCCGGTGCACCTGGAGCTCCAGGAGGCAAGGTAGT
398123936	100485	NM_004006.2(DMD):c.336G>A (p.Trp112Ter)	DMD	Nov 22, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	32823316	AAATCATAAACTGACTCTTGGTTTGATTTGGAATATAATCCTCCACTGGCAGGTAAGAATC
869312873	223771	NM_052867.3(NALCN):c.3390G>A (p.Pro1130=)	NALCN	Dec 31, 2015	Human Phenotype Ontology:HP:0002793,MedGen:C1837388;Human Phenotype Ontology:HP:0004326,MedGen:C0006625;Human Phenotype Ontology:HP:0010864,MedGen:C0036857;Human Phenotype Ontology:HP:0001250,MedGen:C0036572;Human Phenotype Ontology:HP:0000486,MedGen:C0038379	Abnormal pattern of respiration;Cachexia;Intellectual disability, severe;Seizures;Strabismus	germline	13	101089846	GAGAGATGTTATTATTCATCGTGTGGGGCCGGTAAGCGAGCACATCGAATCCTTTGAACAC
199826737	102956	NM_014714.3(IFT140):c.1565G>A (p.Gly522Glu)	IFT140	May 01, 2013	MedGen:C4017372	Short-rib thoracic dysplasia without polydactyly	germline	16	1571494	AACAACTCCTCCTTTTCTCGGAGACTGAGGGGAATCCCTGCTTCTTGGACATCTGTGGGAA
118203937	15950	NM_173483.3(CYP4F22):c.728G>A (p.Arg243His)	CYP4F22	Mar 01, 2006	Gene:50992,MedGen:C1858142,OMIM:604777,OMIM:604781	Autosomal recessive congenital ichthyosis 5	germline	19	15540506	TCATTGAACTGAGCGCTCTGTCTGTCCGGCGCCAGTATCGCTTGCACCACTACCTCGACTT
863225340	214710	NM_000038.5(APC):c.3147G>A (p.Trp1049Ter)	APC	Jul 29, 2015	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112838741	AAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAA
80338900	26908	NM_000137.2(FAH):c.1009G>A (p.Gly337Ser)	FAH	Dec 24, 2014	MedGen:C0268490,OMIM:276700,Orphanet:ORPHA882,SNOMED CT:124536006,SNOMED CT:410056006	Tyrosinemia type I	germline;unknown	15	80180172	CTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGG
796053040	201441	NM_001165963.1(SCN1A):c.5435G>A (p.Trp1812Ter)	SCN1A	Dec 15, 2016	MedGen:CN517202	not provided	germline	2	165991840	AGGATGACTTTGAGATGTTCTATGAGGTTTGGGAGAAGTTTGATCCCGATGCAACTCAGTT
351855	31365	NM_213647.2(FGFR4):c.1162G>A (p.Gly388Arg)	FGFR4	Feb 01, 2002	MedGen:C4016099	Cancer progression and tumor cell motility	unknown	5	177093242	CTGGCCTTGGCTGTGCTCCTGCTGCTGGCCGGGCTGTATCGAGGGCAGGCGCTCCACGGCC
886043692	271914	NM_000426.3(LAMA2):c.7155+1G>A	LAMA2	Jun 09, 2016	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129464453	CTTCTGATGTATCTTGCCACACGAGACCTGGTAAAGATCATATGCATAGCAGAGTTTCCGT
564856283	227702	NM_002465.3(MYBPC1):c.742G>A (p.Glu248Lys)	MYBPC1	May 06, 2016	MedGen:CN517202	not provided	inherited;not applicable	12	101642495	TTGCTGAAGAACGCGAAACCCAGTGAGTACGAGAAGATCGCCTTCCAGTATGGAATCACCG
63750604	95363	NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter)	MLH1	Aug 03, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided	germline	3	37047577	TGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACT
-1	451192	NM_014946.3(SPAST):c.1412G>A (p.Gly471Asp)	SPAST	Jun 19, 2017	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32136967	TAAAAACTGAATTTCTAATAGAATTTGATGGTGTAAGTGTTGATTATGATATTTTTAATGT
121918007	28709	NM_000478.5(ALPL):c.571G>A (p.Glu191Lys)	ALPL	Oct 31, 2017	MedGen:C0268413,OMIM:146300,Orphanet:ORPHA247676,SNOMED CT:20756002;MedGen:C0220743,OMIM:241510,SNOMED CT:30174008;MedGen:C0020630,Orphanet:ORPHA436;Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002;MedGen:CN517202	Adult hypophosphatasia;Childhood hypophosphatasia;Hypophosphatasia;Infantile hypophosphatasia;not provided	germline;unknown	1	21564139	TCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGCT
587783978	168448	NM_133433.3(NIPBL):c.5483G>A (p.Arg1828Gln)	NIPBL	Mar 21, 2014	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37022299	GACGATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGGTCGATT
863225310	214681	NM_000038.5(APC):c.1312+1G>A	APC	Jun 22, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline;unknown	5	112819345	AACCAGGCATGGACCAGGACAAAAATCCAAGTATGTTCTCTATAGTGTACATCGTAGTGCA
137852394	25216	NM_000132.3(F8):c.541G>A (p.Val181Met)	F8	Jan 01, 1992	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154992996	CTGTGCCTTACCTACTCATATCTTTCTCATGTGGACCTGGTAAAAGACTTGAATTCAGGCC
587779621	107089	NM_000090.3(COL3A1):c.1358G>A (p.Gly453Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188994734	CCATCTTTTTTTTTTTTCAGGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCGA
1057519739	362876	NM_005359.5(SMAD4):c.1051G>A (p.Asp351Asn)	SMAD4	Oct 02, 2014	MeSH:D015179,MedGen:CN236642	Colorectal Neoplasms	somatic	18	51065518	GTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGATC
587779517	106962	NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004258	ATGAGCTAAGTCTTCATTATCTGTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGAT
74315387	23418	NM_000557.4(GDF5):c.1199G>A (p.Cys400Tyr)	GDF5	Sep 01, 1997	MedGen:C0265260,OMIM:200700,Orphanet:ORPHA2098,SNOMED CT:77542002	Grebe syndrome	germline	20	35434216	AGCGACCCAGCAAGAACCTTAAGGCTCGCTGCAGTCGGAAGGCACTGCATGTCAACTTCAA
80338892	27366	NM_199292.2(TH):c.698G>A (p.Arg233His)	TH	Sep 10, 2015	MedGen:C1854299,OMIM:605407	Segawa syndrome, autosomal recessive	germline;unknown	11	2167905	AGGGCTTCTCGGACCAGGTGTACCGCCAGCGCAGGAAGCTGATTGCTGAGATCGCCTTCCA
318240758	48294	NM_005334.2(HCFC1):c.674G>A (p.Ser225Asn)	HCFC1	Oct 19, 2012	MedGen:C0796208,OMIM:309541,Orphanet:ORPHA369962;MedGen:CN517202	Mental retardation 3, X-linked;not provided	germline	X	153963263	AGTCCAAGCTGGTGATCTACGGCGGGATGAGTGGCTGCAGGCTGGGGGACCTGTGGACCCT
776073429	259852	NM_000083.2(CLCN1):c.774+1G>A	CLCN1	Sep 07, 2017	MedGen:C0751360,OMIM:255700,SNOMED CT:20305008;MedGen:C0027127,Orphanet:ORPHA206973;MedGen:CN517202	Congenital myotonia, autosomal recessive form;Myotonia congenita;not provided	germline	7	143323387	TTCATGTCTGTGTTCTGCGGGGTATATGAGGTAAGGTTGAGACAGTGAAATGAGCTGGGGC
-1	487606	NM_000053.3(ATP7B):c.2131G>A (p.Gly711Arg)	ATP7B	Aug 23, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51958535	TTCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTTCAGGCCTACAAAT
1057518122	360037	NM_020366.3(RPGRIP1):c.3339+5G>A	RPGRIP1	May 09, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;MedGen:CN517202	Leber congenital amaurosis;not provided	germline	14	21334710	CCATGTCTCAGAAATATCCTAAGGCAGTAAGTACACTGGAGTAATCATTGCATACGAGATA
886037711	248835	NM_177438.2(DICER1):c.4190G>A (p.W1397*)	DICER1	Nov 10, 2014	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	germline	14	95099796	TAAATCAAGACAAAAGCAACACAGATAAATGGGAAAAAGATGAAATGGTAAGTTTGTGTGT
104893874	33285	NM_001151.3(SLC25A4):c.865G>A (p.Val289Met)	SLC25A4	Apr 01, 1996	MedGen:C1836460,OMIM:609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	germline	4	185146939	CTGAGAGGCATGGGCGGTGCTTTTGTATTGGTGTTGTATGATGAGATCAAAAAATATGTCT
121918158	15716	NM_000312.3(PROC):c.1015G>A (p.Val339Met)	PROC	Aug 01, 1993	MedGen:C2674321,OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	germline	2	127428575	GAGCTCAATCAGGCCGGCCAGGAGACCCTCGTGACGGGCTGGGGCTACCACAGCAGCCGAG
1085307168	414095	NM_001204.6(BMPR2):c.140G>A (p.Gly47Asp)	BMPR2	-	MedGen:CN243982	Pulmonary arterial hypertension associated with congenital heart disease	germline	2	202464872	AAGATCCGTATCAGCAAGACCTTGGGATAGGTGAGAGTAGAATCTCTCATGAAAATGGGAC
121918408	31100	NM_001146040.1(GLRA1):c.896G>A (p.Arg299Gln)	GLRA1	Jul 05, 2017	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary	germline	5	151851406	TCACCATGACCACCCAGAGCTCCGGCTCTCGAGCATCTCTGCCCAAGGTAAGTCCCATTGC
58330629	29652	NM_000526.4(KRT14):c.374G>A (p.Arg125His)	KRT14	Oct 30, 2017	MedGen:C0079295,OMIM:131760,Orphanet:ORPHA79396;MedGen:CN517202	Epidermolysis bullosa herpetiformis, Dowling-Meara;not provided	germline	17	41586461	AGAAGGTGACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGC
397515568	76649	NM_052985.3(IFT122):c.1636G>A (p.Gly546Arg)	IFT122	Sep 12, 2013	MedGen:C0432235,OMIM:218330	Cranioectodermal dysplasia 1	not provided	3	129479917	AGAGAAGGCCTCTTAGTGGGGCTGAAGAATGGACAGGTGAGTGCTCCCTCACGTCTCCTGT
121912650	27744	NM_003235.4(TG):c.7007G>A (p.Arg2336Gln)	TG	Jan 01, 2006	MedGen:C0342194,OMIM:274700,SNOMED CT:23536000	Iodotyrosyl coupling defect	germline	8	133022121	GCAACCTCATCGTGGTCACTGCCAGCTACCGAGTGGGTGTCTTCGGCTTCCTGAGTTCTGG
886042002	264121	NM_006218.3(PIK3CA):c.323G>A (p.Arg108His)	PIK3CA	Oct 03, 2016	MedGen:CN517202	not provided	germline	3	179199148	TTTTAAAAGTAATTGAACCAGTAGGCAACCGTGAAGAAAAGATCCTCAATCGAGAAATTGG
864309731	216036	NM_172250.2(MMAA):c.1076G>A (p.Arg359Gln)	MMAA	Jan 07, 2016	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145655253	TGCTTGCCAGTGGGGAGCTGACTGCCAAACGACGGAAGCAACAGAAAGTTTGGATGTGGAA
781798317	223699	NM_173471.3(SLC25A26):c.33+1G>A	SLC25A26	Oct 20, 2017	MedGen:C4225206,OMIM:616794,Orphanet:ORPHA466784	Combined oxidative phosphorylation deficiency 28	germline	3	66221128	GACCGGCCGGGGTTCGTGGCAGCGCTGGTGGTGAGTGCGGGGCGGTGGGGTGGGTTGCTCA
587779454	106890	NM_000090.3(COL3A1):c.1988G>A (p.Gly663Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188998684	ATATAATGCCAATCTCCCAGGGTCCAAAGGGTGATGCCGGTGCACCTGGAGCTCCAGGAGG
312262814	49521	NM_003611.2(OFD1):c.235G>A (p.Ala79Thr)	OFD1	Feb 28, 2013	MedGen:C1510460,OMIM:311200,Orphanet:ORPHA2750,SNOMED CT:52868006	Oral-facial-digital syndrome	not provided	X	13736601	CTCTTAATAGGCGCCTCTAACTCTTTAGTGGCAGATCACTTACAAAGATGTGGCTATGAAT
587776756	26779	NM_000489.4(ATRX):c.20+1G>A	ATRX	Aug 01, 2003	MedGen:C0585216,OMIM:300448,Orphanet:ORPHA231401,SNOMED CT:307343001	Acquired hemoglobin H disease	somatic	X	77785981	AAGCGAAAACATGACCGCTGAGCCCATGAGGTAAAACGCAACCCCGTCTCATGGGCCCCAG
111033734	36554	NM_000155.3(GALT):c.575G>A (p.Ser192Asn)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648344	CTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGA
794726857	189167	NC_012920.1:m.8969G>A	MT-ATP6	Nov 01, 2014	MedGen:C4225415,OMIM:500011	Myopathy, lactic acidosis, and sideroblastic anemia 3	germline	MT	8969	TCCCCATACTAGTTATTATCGAAACCATCAGCCTACTCATTCAACCAATAGCCCTGGCCGT
386833553	70711	NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg)	GLDC	Jul 19, 2017	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	9	6554673	GGAGGAGGTGGTCCTGGCATGGGGCCCATCGGAGTGTAAGTTCTGGGCTGCTGGTTTCAGG
869320697	227015	NM_001903.4(CTNNA1):c.919G>A (p.Glu307Lys)	CTNNA1	Apr 08, 2016	Gene:619480,MedGen:C1837029,OMIM:608970	Macular dystrophy, patterned, 2	germline	5	138827575	AGCGAGGAGCGCTTTAGGCCTTCCCTGGAGGAGCGTCTGGAAAGCATCATTAGTGGGGCTG
104886214	35936	NM_000495.4(COL4A5):c.3115G>A (p.Gly1039Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108626218	ATATATCACATATTTTCAACAGGGCCTCAGGGTGTGGAAGGGCCTCCTGGACCTTCTGGAG
113994024	19476	NM_020365.4(EIF2B3):c.674G>A (p.Arg225Gln)	EIF2B3	Feb 01, 2002	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	1	44881722	TCTTTCTTTCTAGGTCAATAACTTCTATCCGGAGTGAACTGATTCCATATTTAGTGAGAAA
750474121	245461	NM_000527.4(LDLR):c.292G>A (p.Gly98Ser)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11102765	AGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTG
397515861	51611	NM_000138.4(FBN1):c.8267G>A (p.Trp2756Ter)	FBN1	Jul 01, 2010	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48411339	AGACAGAAGCCAATGTGAGTCTTGCAAGTTGGGATGTTGAGAAGACAGCCATCTTTGCTTT
886041085	263786	NM_005993.4(TBCD):c.2761G>A (p.Ala921Thr)	TBCD	Nov 16, 2016	MedGen:C4310671,OMIM:617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	germline	17	82929180	AGTGAGAAGATTGACCGTTTCCGTGCTCACGCCGCCAGCGTGTTCCTGACGCTCCTGCACT
587779644	107124	NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991032	AGGGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGTAAA
387906558	32433	NM_001844.4(COL2A1):c.2149G>A (p.Gly717Ser)	COL2A1	Jun 02, 2005	MedGen:C0410480,OMIM:608805,SNOMED CT:203476003	Avascular necrosis of the head of femur	germline	12	47982892	CGTGGCTCTCCCGGTGCCCAGGGCCTCCAGGGTCCCCGTGGCCTCCCCGGCACTCCTGGCA
199422239	24817	NM_004187.3(KDM5C):c.229G>A (p.Ala77Thr)	KDM5C	Dec 01, 2008	MedGen:C1845243,OMIM:300534,Orphanet:ORPHA85279	Mental retardation, syndromic, Claes-Jensen type, X-linked	germline	X	53218398	GCCAGCCTCTTTGAGCCATTTCTTCTTCAGGCCCAGACGAGAGTGAAACTGAACTACTTGG
121918741	79522	NM_006920.4(SCN1A):c.4265G>A (p.Gly1422Glu)	SCN1A	Jun 22, 2017	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	165999763	CATGTCCTTCTTAATAGGCCACATTCAAAGGATGGATGGATATAATGTATGCAGCAGTTGA
104886158	35819	NM_000495.4(COL4A5):c.2042G>A (p.Gly681Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108601885	TTCCTTTCAATAACTGCTGTTTCTCCATAGGTGACCCTGGACTTCCAGGGCAACCAGGCTT
121908940	21773	NM_006892.3(DNMT3B):c.2452G>A (p.Val818Met)	DNMT3B	Nov 11, 1999	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	germline	20	32807793	ATCTTTGGCTTTCCTGTGCACTACACAGACGTGTCCAACATGGGCCGTGGTGCCCGCCAGA
-1	440681	NM_000091.4(COL4A3):c.2126G>A (p.Gly709Glu)	COL4A3	Jun 01, 2017	MedGen:CN517202	not provided	germline	2	227279793	ACAACAATGTTTATTGTTTTTTCTCTGTAGGAGACCAAGGTTTTCCAGGTACAAAAGGATC
587776782	132337	NM_000321.2(RB1):c.1049+1G>A	RB1	Nov 11, 2013	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline;somatic	13	48367604	TAAAACTCTTCAGACTGATTCTATAGACAGGTATTGCACATGGTATATTTGATTGATTTGC
794726718	187795	NM_001165963.1(SCN1A):c.2792G>A (p.Arg931His)	SCN1A	Jun 05, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	de novo;germline	2	166037930	GCAAGATCGCCAGTGATTGTCAACTCCCACGCTGGCACATGAATGACTTCTTCCACTCCTT
1131690808	420591	NM_004360.4(CDH1):c.531+1G>A	CDH1	Apr 21, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	germline	16	68808568	AAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGA
121434295	18558	NM_005957.4(MTHFR):c.470G>A (p.Arg157Gln)	MTHFR	Jun 01, 1994	MedGen:CN068661	Homocystinuria due to MTHFR deficiency	germline	1	11801166	AGCTGGGCCTGAAGAACATCATGGCGCTGCGGGGAGGTGTGGAGCCAGCACTCCCCTACAC
587779440	106888	NM_000090.3(COL3A1):c.899G>A (p.Gly300Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991670	TAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACG
766016391	194594	NM_003494.3(DYSF):c.4434G>A (p.Trp1478Ter)	DYSF	Jul 03, 2017	MedGen:C2931687,Orphanet:ORPHA207073;MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Dysferlinopathy;Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71643988	CACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGG
111033588	22553	NM_002496.3(NDUFS8):c.413G>A (p.Arg138His)	NDUFS8	May 25, 2004	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	11	68036293	TCGAGGCTGAGCCAAGAGCTGATGGCAGCCGCCGGACCACCCGCTATGACATCGACATGAC
5030861	15615	NM_000277.2(PAH):c.1315+1G>A	PAH	Oct 19, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102840399	AGCTTAAGATTTTGGCTGATTCCATTAACAGTAAGTAATTTACACCTTACGAGGCCACTCG
875989915	228159	NM_000527.4(LDLR):c.1073G>A (p.Cys358Tyr)	LDLR	Dec 16, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111526	TCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTG
-1	457572	NM_194456.1(KRIT1):c.812G>A (p.Trp271Ter)	KRIT1	Jun 26, 2017	MedGen:C1861784,OMIM:116860	Cerebral cavernous malformation	germline	7	92234841	CAAAAATCCAAATACCTAAACAGGAAAAATGGCAGAGAAGCATGAGCAGTGTCACAGAAGA
121909215	22915	NM_000358.2(TGFBI):c.1868G>A (p.Gly623Asp)	TGFBI	Jun 01, 2005	MedGen:C0339278,OMIM:608470,Orphanet:ORPHA98961,SNOMED CT:231930000	Reis-Bucklers' corneal dystrophy	germline	5	136060898	TTGCCGAGCCTGACATCATGGCCACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCA
121909370	23696	NM_000163.4(GHR):c.102G>A (p.Trp34Ter)	GHR	Apr 01, 2003	MedGen:C0271568,OMIM:262500,Orphanet:ORPHA633,SNOMED CT:38196001	Laron-type isolated somatotropin defect	germline	5	42629069	CACAGCAGCTATCCTTAGCAGAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAG
9332969	24868	NM_000044.4(AR):c.2522G>A (p.Arg841His)	AR	Nov 30, 2007	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004;MedGen:C0268301,OMIM:312300,Orphanet:ORPHA90797,SNOMED CT:58672003	Androgen resistance syndrome;Partial androgen insensitivity syndrome	germline	X	67722899	TTCGAATGAACTACATCAAGGAACTCGATCGTATCATTGCATGCAAAAGAAAAAATCCCAC
770931871	481367	NM_004092.3(ECHS1):c.394G>A (p.Ala132Thr)	ECHS1	Nov 16, 2017	MedGen:C4225391,OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	maternal;paternal	10	133369924	CACCTCACCCAGGTCAAGAAGCCAGTCATCGCTGCTGTCAATGGCTATGCCGTGAGTGTTG
267607184	29720	NM_000208.3(INSR):c.1177G>A (p.Gly393Arg)	INSR	Dec 05, 2016	MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005	Leprechaunism syndrome	germline	19	7172381	GCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGCCGATCCTACGCTC
387906286	17904	NM_001171507.2(MCFD2):c.149+5G>A	MCFD2	Jun 01, 2003	MedGen:C3150889,OMIM:613625	Factor v and factor viii, combined deficiency of, 2	germline	2	46909018	GATAAGAACACAGTGCACGACCAAGAGTACGTATTCAGCCCGGGCTGTGGTCCAGTGGCCT
1131691611	421362	NM_173076.2(ABCA12):c.2593-1G>A	ABCA12	Sep 28, 2015	MedGen:CN517202	not provided	germline	2	215004300	TTGAAACTGATTTTTAATTATTATTTGTTAGAATACTCTAAGGAACCCTTTTGTGCAAGTT
878854403	227715	NM_001277059.1(ERCC6):c.2237G>A (p.Gly746Asp)	ERCC6	Apr 13, 2017	MedGen:C4310783,OMIM:616946	Premature ovarian failure 11	germline	10	49516282	GCTTTGATGAATTCATGGTTCCTTATTTTGGTCGTCACGGGTGCAAACAATTTATTCGGGG
587779606	107069	NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999542	CCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTG
-1	467511	NM_000546.5(TP53):c.783-1G>A	TP53	Aug 14, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome	germline	17	7673838	CCTCTTGCTTCTCTTTTCCTATCCTGAGTAGTGGTAATCTACTGGGACGGAACAGCTTTGA
80356772	33922	NM_000157.3(GBA):c.1505G>A (p.Arg502His)	GBA	Feb 05, 2016	MedGen:C0017205,Orphanet:ORPHA355;MedGen:C1961835,OMIM:230800,SNOMED CT:62201009	Gaucher disease;Gaucher's disease, type 1	unknown	1	155235195	ATGGCTCTGCTGTTGTGGTCGTGCTAAACCGGTGAGGGCAATGGTGAGGTCTGGGAAGTGG
1085307876	415501	NM_020988.2(GNAO1):c.724-8G>A	GNAO1	Mar 17, 2017	MedGen:CN517202	not provided	germline	16	56351376	CGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCAT
397507981	67234	NM_000059.3(BRCA2):c.8364G>A (p.Trp2788Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	13	32370434	TTCTGCTAACAGTACTCGGCCTGCTCGCTGGTATACCAAACTTGGATTCTTTCCTGACCCT
74315358	17450	NM_032409.2(PINK1):c.836G>A (p.Arg279His)	PINK1	Oct 01, 2008	MedGen:C1853833,OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	germline	1	20644549	CCCCTCACCCCAACATCATCCGGGTTCTCCGCGCCTTCACCTCTTCCGTGCCGCTGCTGCC
267606694	33481	NM_001218.4(CA12):c.427G>A (p.Glu143Lys)	CA12	Apr 01, 2011	MedGen:C1840437,OMIM:143860	Hyperchlorhidrosis, isolated	germline	15	63345479	CACACCGTCAGCGGACAGCACTTCGCCGCCGAGGTAAGTAGGGCTGCCAGTCTGGCAGAGG
137854607	24424	NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn)	SCN5A	Feb 10, 2017	EFO:EFO_0005305,Human Phenotype Ontology:HP:0001678,MedGen:C1841659;MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:C1879286,OMIM:113900;MedGen:CN517202	Atrioventricular block;Brugada syndrome;Progressive familial heart block type 1A;not provided	germline	3	38554309	TACTACTTCACCAACAGCTGGAATATCTTCGACTTCGTGGTTGTCATCCTCTCCATCGTGG
104886338	35788	NM_000495.4(COL4A5):c.1780-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598701	ATGTTTCTGTATTAAACTTTTCCCTTTTTAGGGTGGAATTACTTTTAAGGGTGAAAGAGGT
1085307153	414079	NM_001204.6(BMPR2):c.47G>A (p.W16*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377521	AGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGCTGGTCAGCACTGCGGCTGG
754022333	223714	NM_012473.3(TXN2):c.71G>A (p.Trp24Ter)	TXN2	Feb 19, 2016	MedGen:C4225200,OMIM:616811	Combined oxidative phosphorylation deficiency 29	germline	22	36480767	TCATCTCCAGGAAGCCCTCTCAGGGTCAGTGGCCACCCCTCACTTCCAGAGCCCTGCAGAC
121912678	33348	NM_001105.4(ACVR1):c.617G>A (p.Arg206His)	ACVR1	Jan 05, 2017	MedGen:C0016037,OMIM:135100,Orphanet:ORPHA337,SNOMED CT:82725007;MedGen:CN517202	Progressive myositis ossificans;not provided	germline	2	157774114	TTCCTTTTCTGGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGTGTGTCGGTAA
150376474	434435	NM_172250.2(MMAA):c.658G>A (p.Val220Met)	MMAA	-	MedGen:C1855109,OMIM:251100,Orphanet:ORPHA79310	Methylmalonic aciduria cblA type	germline	4	145646081	CCATCTCCTACTAGAGGAACTTTAGGAGGCGTGACAAGGACCACAAATGAAGCTATTCTGT
181949335	55296	NM_024022.2(TMPRSS3):c.916G>A (p.Ala306Thr)	TMPRSS3	Aug 11, 2014	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	21	42382101	TACAAGCCAAAGAGGCTGGGCAATGACATCGCCCTTATGAAGCTGGCCGGGCCACTCACGT
137853096	22694	NM_000414.3(HSD17B4):c.46G>A (p.Gly16Ser)	HSD17B4	Aug 17, 2017	MedGen:C0342870,OMIM:261515,Orphanet:ORPHA300,SNOMED CT:238068007;MedGen:CN517202	Bifunctional peroxisomal enzyme deficiency;not provided	germline;unknown	5	119452621	AGGTTCGACGGGCGGGTGGTACTGGTCACCGGCGCGGGGGCAGGTGAGCATGCGAAGGTTG
1064793942	408422	NM_032193.3(RNASEH2C):c.450G>A (p.Trp150Ter)	RNASEH2C	Jul 31, 2015	MedGen:CN517202	not provided	germline	11	65720063	GGATGCCAAAGTGCGTGGGGCCTTAACTTGGCCCAGCCTTGCGGCAGCGGTGAGTAGACGA
132630292	26129	NM_001128834.2(PLP1):c.434G>A (p.Trp145Ter)	PLP1	Mar 17, 1997	MedGen:C0751915	Pelizaeus-Merzbacher disease, atypical	germline	X	103786707	TGGAGCGGGTGTGTCATTGTTTGGGAAAATGGCTAGGACATCCCGACAAGGTGATCATCCT
28942081	18736	NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11116144	GGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGT
587777626	153723	NM_022773.3(LMF1):c.1391G>A (p.Trp464Ter)	LMF1	Nov 01, 2009	MedGen:C1855498,OMIM:246650	Lipase deficiency combined	germline	16	869908	TCATCTCCCCGTACCACTACCGCCTGGACTGGCTGATGTGGTTCGCGGCCTTCCAGGTGGG
142761835	177782	NM_002225.3(IVD):c.367G>A (p.Gly123Arg)	IVD	Sep 01, 2017	MedGen:C0268575,OMIM:243500,Orphanet:ORPHA33,SNOMED CT:87827003;MedGen:CN517202	Isovaleryl-CoA dehydrogenase deficiency;not provided	germline;unknown	15	40410699	CTGGTGATGGAGGAGATATCCCGAGCTTCCGGAGCAGTGGGGCTCAGTTACGGTGCCCACT
587777471	143160	NM_015072.4(TTLL5):c.3354G>A (p.Trp1118Ter)	TTLL5	May 01, 2014	MedGen:C4014501,OMIM:615860	Cone-rod dystrophy 19	germline	14	75863694	CAGGAGCCTGCAGACAGGGGGATTTGCCTGGGAAGGAGAAGTAGAAAACAACGTGTACAGC
121908071	19185	NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr)	NSD1	Sep 25, 2017	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177293973	TCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCC
1057517585	358911	NM_024675.3(PALB2):c.3G>A (p.Met1Ile)	PALB2	Nov 28, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline;unknown	16	23641155	CTGCTCTTTTCGTTCTGTCGCCTGCCCGATGGACGAGCCTCCCGGGAAGCCCCTCAGCTGT
121909737	31168	NM_005271.4(GLUD1):c.965G>A (p.Arg322His)	GLUD1	Mar 27, 2017	MedGen:C1847555,OMIM:606762,Orphanet:ORPHA35878	Hyperinsulinism-hyperammonemia syndrome	germline	10	87061009	TGGGCCTACACTCTATGAGATATTTACATCGTTTTGGTGCTAAATGTATTGCTGTTGGTGA
886041529	265147	NM_000444.5(PHEX):c.664-1G>A	PHEX	Aug 15, 2016	MedGen:CN517202	not provided	germline	X	22090428	AGCAGAATGCTTTCTGTTTTTGTTTTTACAGCTGGACCAAGCAACACTCTCCCTGGCCGTG
121913568	29344	NM_013227.3(ACAN):c.7141G>A (p.Asp2381Asn)	ACAN	Jan 01, 2009	MedGen:C2748544,OMIM:612813,Orphanet:ORPHA171866	Spondyloepimetaphyseal dysplasia, Aggrecan type	germline	15	88872038	GCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGT
1057520752	377842	NM_015629.3(PRPF31):c.855+1G>A	PRPF31	May 22, 2015	MedGen:CN517202	not provided	germline	19	54124657	CACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCG
1085307446	414475	NM_005869.3(CWC27):c.495G>A (p.Glu165=)	CWC27	May 11, 2017	MedGen:C1855188,OMIM:250410,Orphanet:ORPHA166035	Retinitis pigmentosa with or without skeletal anomalies	germline	5	64785579	ACATAATCCACACAAAATAAAAAGCTGTGAGGTAGGAGCATGATTATTACGAGATACAGCA
-1	481791	NM_000162.4(GCK):c.208+1G>A	GCK	Jan 17, 2018	MedGen:CN517202	not provided	germline	7	44153300	CCTACGTGCGCTCCACCCCAGAAGGCTCAGGTACCACATGGTAACCGGCTCCTCATCCAGA
587778831	132343	NM_000321.2(RB1):c.1216-1G>A	RB1	Sep 16, 2013	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48376917	CGACATTGATTTCTGTTTTTACCTCCTAAAGAACTGCACAGTGAATCCAAAAGAAAGTATA
398122403	94413	NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln)	SYNJ1	Nov 22, 2013	MedGen:C3809824,OMIM:615530	Parkinson disease 20, early-onset	germline	21	32695106	GTGAACGAGCTGGGACCAGGTTTAATGTCCGGGGAACAAATGATGATGGTCATGTTGCCAA
587779683	107188	NM_000090.3(COL3A1):c.3544G>A (p.Gly1182Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008942	TACTCATTCTAGGGCTCCCCAGGCCACCCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTG
397517342	55154	NM_022124.5(CDH23):c.5712G>A (p.Thr1904=)	CDH23	Oct 10, 2011	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71785100	CCGCGAGCGGGCCTTCTTCATCAATGCCACGGTAGGGCCTAGACTGACCCCAGGGAGCTTC
113994122	15733	NM_001145320.1(ADAMTSL2):c.338G>A (p.Arg113His)	ADAMTSL2	Apr 19, 2012	MedGen:C3278147,OMIM:231050,SNOMED CT:28557005	Geleophysic dysplasia 1	germline	9	133539799	AGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCA
573267388	362150	NM_015160.2(PMPCA):c.554G>A (p.Arg185Gln)	PMPCA	-	MedGen:C1859298,OMIM:213200,Orphanet:ORPHA1170	Spinocerebellar ataxia, autosomal recessive 2	germline	9	136416312	CTCTTGCAGATGAAGAAGTCGAGATGACGCGGATGGCGGTCCAGTTTGAGCTGGAGGACCT
137852524	25034	NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg)	L1CAM	Jul 26, 2016	MedGen:C0795953,OMIM:303350,Orphanet:ORPHA2466;MedGen:CN517202	Spastic paraplegia 1;not provided	germline	X	153869818	CCCCAACCAGAGGTCACCTGGAGAATCAACGGGATCCCTGTGGAGGGTGAGCAGGGCCTCA
137852583	24875	NM_000044.4(AR):c.2164G>A (p.Ala722Thr)	AR	May 25, 1995	Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003	Malignant tumor of prostate	germline	X	67711680	CAGCTTGTACACGTGGTCAAGTGGGCCAAGGCCTTGCCTGGTAAGGAAAAGGGAAGTGGGA
1085307823	415201	NM_033305.2(VPS13A):c.4956+1G>A	VPS13A	Mar 31, 2017	MedGen:CN517202	not provided	germline	9	77317699	GATATGTCAGTAAAATCCCTGACACTAAAGGTAAATTAAAATATAATCATTTGAATATTTA
779748859	108167	NM_001847.3(COL4A6):c.1771G>A (p.Gly591Ser)	COL4A6	Feb 01, 2014	MedGen:C3806737,OMIM:300914	Deafness, X-linked 6	germline	X	108187279	TTTTCATTCTTTGTTTTATATGTTGTCTAGGGTGATGGTGGACAGGGCTTCCCAGGTGAAA
797045934	208589	NM_000540.2(RYR1):c.3381+1G>A	RYR1	May 28, 2015	Human Phenotype Ontology:HP:0003198,MedGen:C0026848	Myopathy	germline	19	38467813	GAGCTGGCCTATGTCTTCAATGGGCACCGCGTGGGTACCTCCCTGGGCACCATTCTGCCAG
72558447	103223	NM_000531.5(OTC):c.795G>A (p.Trp265Ter)	OTC	-	MedGen:CN517202	not provided	unknown	X	38408953	TGGAGGCAATGTATTAATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGAAGAAA
587782947	433561	NM_000138.4(FBN1):c.5783G>A (p.Cys1928Tyr)	FBN1	May 05, 2017	MedGen:CN169374	not specified	germline	15	48446711	ATGGTTTCATCCTTTCTCACAACAATGACTGTATAGGTGCGTGTGCAAAATTGTGCATCAG
121908280	16279	NM_032753.3(RAX2):c.260G>A (p.Arg87Gln)	RAX2	May 15, 2004	MedGen:C3151060,OMIM:613757	Age-related macular degeneration 6	germline	19	3770916	ACCGCCGGGCCAAGTGGCGCCGCCAGGAGCGGCTGGAGTCAGGCTCGGGTGCCGTGGCAGC
72656332	32341	NM_000088.3(COL1A1):c.3559G>A (p.Gly1187Ser)	COL1A1	Oct 03, 1997	MedGen:C0268360,OMIM:166210,SNOMED CT:86470003	Osteogenesis imperfecta, recessive perinatal lethal	germline	17	50186895	CAGGGTCCCCCCGGCCCTCCTGGACCTCCTGGTCCCCCTGGTCCTCCCAGCGCTGGTTTCG
80338792	20959	NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	SCN4A	Apr 18, 2017	MedGen:CN074266,OMIM:170500;MedGen:C0752355,OMIM:608390,Orphanet:ORPHA99734;MedGen:CN517202	Hyperkalemic Periodic Paralysis Type 1;Potassium aggravated myotonia;not provided	germline	17	63943846	ACCTGACAAGCCCTATCCCACTATACTTAGGGGGGAAAGACATCTTTATGACGGAGGAACA
104895477	19740	NM_022162.2(NOD2):c.1147G>A (p.Glu383Lys)	NOD2	Jun 01, 2005	MedGen:C1861303,OMIM:186580,Orphanet:ORPHA90340;MedGen:C1836122,OMIM:609464	Blau syndrome;Sarcoidosis, early-onset	germline	16	50711058	CGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAAC
397516006	51862	NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)	MYBPC3	Mar 26, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy	germline	11	47333291	CTCCCCAGGATCTCCGGGTGACTGACGCCTGGGGTCTTAATGTGGCTCTGGAGTGGAAGCC
1085307180	414110	NM_001204.6(BMPR2):c.203G>A (p.Gly68Asp)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464935	TATTATGCTCGAAAGGTAGCACCTGCTATGGCCTTTGGGAGAAATCAAAAGGGGACATAAA
137853231	21111	NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter)	RECQL4	Nov 01, 2003	MedGen:C1849453,OMIM:266280,Orphanet:ORPHA3021	Rapadilino syndrome	germline	8	144516313	GCGAGAAGCGGAGATGGAACGAGGAGCCCTGGGAGAGCCCCGCACAGGTCCAGCAGGAGAG
879255193	246601	NM_000527.4(LDLR):c.2390-1G>A	LDLR	Nov 05, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited	19	11129512	GCTGTGTGACAGAGCGTGCCTCTCCCTACAGTGCTCCTCGTCTTCCTTTGCCTGGGGGTCT
587779664	107160	NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del)	COL3A1	Nov 10, 2015	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189003063	GCAGGACCCCCTGGAGGTTCTGGACCTGCTGTAAGTTCCTTCCTCTTTCTCTGTCTATCTA
140259402	39798	NM_018718.2(CEP41):c.536G>A (p.Arg179His)	CEP41	Jan 15, 2012	MedGen:CN121473	Joubert syndrome 12/15, digenic	germline	7	130402686	CTGACTGCCCCTTCCTGCTGCTAGATGTGCGTGATAGAGATTCTTACCAGCAGTGCCACAT
121434438	21898	NM_001106.3(ACVR2B):c.1480G>A (p.Val494Ile)	ACVR2B	Jan 01, 1999	MedGen:C3151057,OMIM:613751	Heterotaxy, visceral, 4, autosomal	germline	3	38483273	TCGGTCAACGGCACTACCTCGGACTGTCTCGTTTCCCTGGTGACCTCTGTCACCAATGTGG
886037938	248794	NM_021912.4(GABRB3):c.358G>A (p.Asp120Asn)	GABRB3	Sep 20, 2016	MedGen:C4310712,OMIM:617113	Epileptic encephalopathy, early infantile, 43	germline	15	26621417	AATCGAGTGGCTGACCAGCTATGGGTGCCCGACACATATTTCTTAAATGACAAAAAGTCAT
119103220	16960	NM_022132.4(MCCC2):c.464G>A (p.Arg155Gln)	MCCC2	Feb 01, 2001	MedGen:C1859499,OMIM:210210	3-methylcrotonyl CoA carboxylase 2 deficiency	germline	5	71602586	ACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCCATGCAAAACAGGCT
113994049	20984	NM_003907.2(EIF2B5):c.338G>A (p.Arg113His)	EIF2B5	May 05, 2017	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854;MedGen:C1847967,Orphanet:ORPHA99853;MedGen:CN517202	Leukoencephalopathy with vanishing white matter;Ovarioleukodystrophy;not provided	germline	3	184137637	TCCCTTCCTTTAGGAAGTCAAAGTGGTGCCGCCCTACATCTCTCAATGTGGTTCGAATAAT
28936374	24108	NM_001876.3(CPT1A):c.2126G>A (p.Gly709Glu)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	germline	11	68760241	TGGAGAATAACCCAGAGTACGTGTCCAGCGGAGGGGGCTTTGGACCGGTGAGTGCGGCGGG
779103938	237358	NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp)	CYP11B1	Apr 01, 2015	MedGen:CN517202	not provided	germline	8	142875024	CCGGCAGGAACTTCTACCACGTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTTGGGCGGCG
61753266	27100	NM_000504.3(F10):c.424G>A (p.Glu142Lys)	F10	Aug 01, 1995	MedGen:C0015519,OMIM:227600,Orphanet:ORPHA328,SNOMED CT:76642003	Factor X deficiency	germline	13	113140972	GACAACGGGGACTGTGACCAGTTCTGCCACGAGGAACAGAACTCTGTGGTGTGCTCCTGCG
796052636	203775	NM_172107.3(KCNQ2):c.844G>A (p.Asp282Asn)	KCNQ2	Jun 16, 2015	MedGen:CN517202	not provided	germline	20	63439681	CAGATCACGCTGACCACCATTGGCTACGGGGACAAGTACCCCCAGACCTGGAACGGCAGGC
1060499793	389236	NM_022124.5(CDH23):c.3181G>A (p.Glu1061Lys)	CDH23	Jun 04, 2016	MedGen:C1832394,OMIM:601386	Deafness, autosomal recessive 12	germline	10	71709172	GTTGTGAGAACCGTGGTGGGCCTGGACCGGGAGACCACAGCCGCCTACATGCTCATCCTGG
78655421	22148	NM_000492.3(CFTR):c.350G>A (p.Arg117His)	CFTR	Oct 31, 2017	MedGen:C0403814,OMIM:277180,Orphanet:ORPHA48;MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN236562;MedGen:CN517202;MedGen:CN169374	Congenital bilateral absence of the vas deferens;Cystic fibrosis;Cystic fibrosis;Hereditary pancreatitis;ivacaftor response - Efficacy;not provided;not specified	germline;maternal;paternal;unknown	7	117530975	CTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTT
80356616	23706	NM_000525.3(KCNJ11):c.175G>A (p.Val59Met)	KCNJ11	Apr 30, 2015	MedGen:C1833102;Human Phenotype Ontology:HP:0000857,MedGen:C3278636;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Diabetes mellitus, permanent neonatal, with neurologic features;Neonatal insulin-dependent diabetes mellitus;Permanent neonatal diabetes mellitus	germline	11	17387917	ATCCGGGAGCAGGGCCGCTTCCTGCAGGACGTGTTCACCACGCTGGTGGACCTCAAGTGGC
797045331	209219	NM_000052.6(ATP7A):c.1544-1G>A	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78003072	TCTGTATTGTTTTTCTTATCAATGCTCTTAGGAATATATTCTATACTTGTGGCCCTGATGG
137852512	25042	NM_000216.3(ANOS1):c.711G>A (p.Trp237Ter)	ANOS1	Sep 01, 1992	MedGen:C1563719,OMIM:308700	Kallmann syndrome 1	germline	X	8587809	CCATCCTAGCGAAGATGACGCCACTCACTGGCAGACAGTGGCCCAGGTAAGAACCTCATAT
397514680	50326	NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)	SYN1	Apr 09, 2013	MedGen:C1845343,OMIM:300491,Orphanet:ORPHA85294	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	germline	X	47574336	CCCGGGGCGCCTCCAGCAGCCCGCCCGCCCGCCTCTCCGTCTCCCCAGCGCCAGGCGGGCC
879255685	247683	NM_012062.4(DNM1L):c.1085G>A (p.Gly362Asp)	DNM1L	Oct 15, 2010	MedGen:C3280660,OMIM:614388,Orphanet:ORPHA330050	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	germline	12	32731019	AACCATATACTTCATTGCCTTTCAGATGCGGTGGTGCTAGAATTTGTTATATTTTCCATGA
886039043	258466	NM_000238.3(KCNH2):c.1557+1G>A	KCNH2	Jun 01, 2015	MedGen:CN230736	Cardiovascular phenotype	germline	7	150952424	CTGCTCATCTTCGGCTCTGGCTCTGAGGAGGTGGGGTCAGCAAGGAGGCAGGTGGTGTAGG
121434474	24649	m.12147G>A	MT-TH	Apr 27, 2004	MedGen:C3151970	MERRF/MELAS overlap syndrome	germline	MT	12147	TCATTACCGGGTTTTCCTCTTGTAAATATAGTTTAACCAAAACATCAGATTGTGAATCTGA
121912807	32582	NM_000083.2(CLCN1):c.1495G>A (p.Gly499Arg)	CLCN1	Jan 28, 2000	MedGen:C0751360,OMIM:255700,SNOMED CT:20305008	Congenital myotonia, autosomal recessive form	germline	7	143339534	CCTCTAGGAGCTGCATTTGGAAGGCTGGTAGGAGAAATCATGGCCATGCTCTTTCCTGATG
111033736	18661	NM_000155.3(GALT):c.607G>A (p.Glu203Lys)	GALT	Apr 03, 2014	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34648376	AGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGC
769651861	440065	NM_015650.3(TRAF3IP1):c.169G>A (p.Glu57Lys)	TRAF3IP1	Jun 01, 2017	MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Short rib-polydactyly syndrome, Majewski type	maternal	2	238325351	GGTTTCATGAAGGGCCTCTACACAGACGCCGAGATGAAGTCTGATAATGTGAAGGTGGGTT
-1	446525	NM_005629.3(SLC6A8):c.263-1G>A	SLC6A8	Sep 12, 2017	MedGen:CN517202	not provided	germline	X	153690374	CCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCG
5030731	300240	NM_000521.3(HEXB):c.1082+5G>A	HEXB	Jun 19, 2017	MedGen:C0036161,OMIM:268800,Orphanet:ORPHA796,SNOMED CT:23849003	Sandhoff disease	germline	5	74715695	GGAGATGAAGTGGAATTTAAATGTTGGTAAGATGATTCCTTAAAACCCCTTTAAAAAAAAA
72658143	413961	NM_000089.3(COL1A2):c.1801G>A (p.Gly601Ser)	COL1A2	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	7	94416441	CGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTC
587779553	107148	NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189008107	AGTGGACATCCAGGTCCCATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGAT
1085307172	414100	NM_001204.6(BMPR2):c.179G>A (p.Cys60Tyr)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202464911	GAATCTCTCATGAAAATGGGACAATATTATGCTCGAAAGGTAGCACCTGCTATGGCCTTTG
397514667	49382	NM_001242.4(CD27):c.158G>A (p.Cys53Tyr)	CD27	Mar 01, 2013	MedGen:C3554540,OMIM:615122	Lymphoproliferative syndrome 2	germline	12	6445445	TCCTCCCAGGAACATTCCTCGTGAAGGACTGTGACCAGCATAGAAAGGCTGCTCAGTGTGA
864321670	213762	NM_002860.3(ALDH18A1):c.755G>A (p.Arg252Gln)	ALDH18A1	Aug 21, 2015	MedGen:C1832669,OMIM:601162,Orphanet:ORPHA100990	Spastic paraplegia 9	germline	10	95633012	GTGTTAAAGATAATGATAGCCTGGCTGCCCGACTGGCTGTGGAAATGAAAACTGATCTCTT
367543049	51272	NM_001100.3(ACTA1):c.143G>A (p.Gly48Asp)	ACTA1	Apr 11, 2013	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007	Congenital myopathy with fiber type disproportion	not provided	1	229432867	GTGTCTCGGCTCTGCAGGGCGTCATGGTCGGTATGGGTCAGAAAGATTCCTACGTGGGCGA
121918659	27784	NM_000733.3(CD3E):c.176G>A (p.Trp59Ter)	CD3E	Feb 04, 2014	MedGen:C3810127,OMIM:615615	Immunodeficiency 18	germline	11	118312690	GCCCTCAGTATCCTGGATCTGAAATACTATGGCAACACAATGATAAAAACATAGGCGGTGA
121918302	19207	NM_014989.5(RIMS1):c.2459G>A (p.Arg820His)	RIMS1	Mar 01, 2003	MedGen:C1863634,OMIM:603649	Cone-rod dystrophy 7	germline	6	72251007	ATCAAACTTTTGTCTATTCACATGTACATCGTAGAGATTTTAGAGAACGAATGTTAGAAAT
865990202	359265	NM_000350.2(ABCA4):c.1988G>A (p.Trp663Ter)	ABCA4	Jul 19, 2016	MedGen:CN517202	not provided	germline	1	94060709	GCTGTTTCCCTATCTTCATGGTGCTGGCATGGATCTACTCTGTCTCCATGACTGTGAAGAG
886041365	265150	NM_000444.5(PHEX):c.1806G>A (p.Trp602Ter)	PHEX	May 27, 2016	MedGen:CN517202	not provided	germline	X	22221650	ATATGATAAAAATGGAAACCTGGATCCTTGGTGGTCTACTGAATCAGAAGAAAAGTTTAAG
1057516041	353909	NM_001009944.2(PKD1):c.10583G>A (p.Trp3528Ter)	PKD1	Aug 03, 2015	MedGen:C0085413,OMIM:173900,SNOMED CT:28728008	Polycystic kidney disease, adult type	maternal	16	2094127	AGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGAACAGCCCCAGGCAGCGAGGCTGTCCAG
137853283	166064	NM_000053.3(ATP7B):c.2336G>A (p.Trp779Ter)	ATP7B	Dec 06, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN169374	Wilson disease;not specified	germline	13	51958330	TGCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCAAAGGTAACAGCAGC
104895298	103484	NM_000431.3(MVK):c.442G>A (p.Ala148Thr)	MVK	Apr 01, 2015	MedGen:C0398691,OMIM:260920,Orphanet:ORPHA343,SNOMED CT:234538002;MedGen:CN517202	Hyperimmunoglobulin D with periodic fever;not provided	germline	12	109581465	CCCCCCGGGGCGGGCTTGGGCTCCAGCGCCGCCTACTCGGTGTGTCTGGCAGCAGCCCTCC
398124053	100675	NM_004006.2(DMD):c.7683G>A (p.Trp2561Ter)	DMD	Jul 08, 2014	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31679564	TATTCTAGTTGAAAGAATTCAGAATCAGTGGGATGAAGTACAAGAACACCTTCAGAACCGG
121909107	22300	NM_005251.2(FOXC2):c.362G>A (p.Arg121His)	FOXC2	Sep 15, 2005	MedGen:C0265345,OMIM:153400,Orphanet:ORPHA33001,SNOMED CT:8634009	Distichiasis-lymphedema syndrome	germline	16	86567697	AGAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGT
794728553	197418	NM_000218.2(KCNQ1):c.343G>A (p.Glu115Lys)	KCNQ1	Sep 10, 2013	MedGen:CN517202	not provided	germline	11	2445441	CACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGGAAATGCTTCGTTT
28940879	18829	NM_000372.4(TYR):c.164G>A (p.Cys55Tyr)	TYR	Mar 03, 2016	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178117	CCTGTGGCCAGCTTTCAGGCAGAGGTTCCTGTCAGAATATCCTTCTGTCCAATGCACCACT
1057524547	378475	NM_000088.3(COL1A1):c.1930G>A (p.Gly644Ser)	COL1A1	Jan 04, 2017	MedGen:CN517202	not provided	germline	17	50192528	CTCCCTTCTTCCCCCATTTCCCACCTACAGGGTCTCCCTGGTCCTGCTGGTCCTCCAGGTG
769259446	424406	NM_003901.3(SGPL1):c.665G>A (p.Arg222Gln)	SGPL1	Jul 21, 2017	MedGen:CN339707,OMIM:617575	NEPHROTIC SYNDROME 14	germline	10	70868394	AAAGCATACTGATGGCCTGCAAAGCATATCGGGATCTGGCCTTTGAGAAGGGGATCAAAAC
202247804	46959	NM_014252.3(SLC25A15):c.569G>A (p.Gly190Asp)	SLC25A15	May 31, 2012	MedGen:C0268540,OMIM:238970,Orphanet:ORPHA415,SNOMED CT:30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	not provided	13	40807410	AAGTACCAGGCTATTTCTTCTTCTTCGGTGGCTATGAACTGAGCCGGTCCTTTTTTGCATC
863223696	210567	NM_005120.2(MED12):c.4147G>A (p.Ala1383Thr)	MED12	Jun 29, 2017	MedGen:C0220769,OMIM:305450,SNOMED CT:49984004;MedGen:CN517202	FG syndrome;not provided	germline	X	71132100	CAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGT
79781594	36242	NM_020975.4(RET):c.1853G>A (p.Cys618Tyr)	RET	Aug 01, 2017	MedGen:C0027672,SNOMED CT:699346009;na;Human Phenotype Ontology:HP:0002865,MeSH:C536914,MedGen:C0238462,Orphanet:ORPHA1332,SNOMED CT:255032005;MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006;MedGen:CN073359,Orphanet:ORPHA653,SNOMED CT:61808009;MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009;MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001;MedGen:C1970712,OMIM:610755,Orphanet:ORPHA276152	Hereditary cancer-predisposing syndrome;MEN2A and FMTC;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 4	germline;somatic	10	43113649	CCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGCGAGCCCGAAGACATCCAGGGTGA
796052595	203395	NM_001193466.1(KANSL1):c.2203+1G>A	KANSL1	Jan 27, 2014	MedGen:CN517202	not provided	germline	17	46039701	AATTGGTCAGCTCCTTCCTAACAACAGCCAGTAAGTGTCAGGGAGCCGGGAAGTCCCCCAG
587777708	165725	NM_003990.4(PAX2):c.167G>A (p.Arg56Gln)	PAX2	Sep 01, 2014	MedGen:C4014925,OMIM:616002	Focal segmental glomerulosclerosis 7	germline	10	100749869	ACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAG
122460152	26562	NM_000047.2(ARSE):c.349G>A (p.Gly117Arg)	ARSE	Apr 07, 1995	MedGen:C1844853,OMIM:302950,Orphanet:ORPHA79345	Chondrodysplasia punctata 1, X-linked recessive	germline	X	2953224	AGCATTGGTTACCGTGTTCTTCAGTGGACCGGAGCATCTGGAGGTCTTCCAACAAATGAGA
-1	444293	NM_017780.3(CHD7):c.3302G>A (p.Cys1101Tyr)	CHD7	Aug 15, 2017	MedGen:CN517202	not provided	germline	8	60823940	GTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAA
137852316	25409	NM_000402.4(G6PD):c.1268G>A (p.Arg423His)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na;na;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD ANAHEIM;G6PD NASHVILLE;G6PD PORTICI	germline	X	154532676	AGCAGTGCAAGCGCAACGAGCTGGTGATCCGCGTGCAGCCCAACGAGGCCGTGTACACCAA
25404	51477	NM_000138.4(FBN1):c.247+1G>A	FBN1	May 22, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	germline	15	48613009	CCTTACCTGGCGGAAATCAGTGTATTGTCCGTAAGTAAATAGAAAACTTGTCATTCTGCAT
80358158	245056	NM_007294.3(BRCA1):c.135-1G>A	BRCA1	Jun 13, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	17	43106534	AAATTGTTCTTTCTTTCTTTATAATTTATAGATTTTGCATGCTGAAACTTCTCAACCAGAA
104893861	23129	NM_153426.2(PITX2):c.344G>A (p.Arg115His)	PITX2	Jan 28, 2016	MedGen:C1842031,OMIM:137600;MedGen:CN517202	Iridogoniodysgenesis, dominant type;not provided	germline	4	110621210	AGAGGAACCGCTACCCGGACATGTCCACACGCGAAGAAATCGCTGTGTGGACCAACCTTAC
756414548	200228	NM_052845.3(MMAB):c.569G>A (p.Arg190His)	MMAB	Nov 17, 2016	MedGen:C1855102,OMIM:251110,Orphanet:ORPHA79311;MedGen:CN517202	Methylmalonic aciduria cblB type;not provided	germline	12	109561055	CGGCGCTGCATTTCTGCCGGGCCGTGTGCCGCCGGGCCGAGAGACGGTAAGAGGGCTGGAG
886041966	264272	NM_023073.3(CPLANE1):c.57G>A (p.Trp19Ter)	CPLANE1	Sep 09, 2016	MedGen:CN517202	not provided	germline	5	37247642	ATCAACAGGTATTAAGCAGAAAAAACCATGGCCACGTGTCTCCTGGTTGGGAAAGGTAGGT
587783993	168317	NM_133433.3(NIPBL):c.610+1G>A	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	36962275	GTTACACAACACATCCACAGATGCAACAAGGTAAGAAAGTTGTTTGTAACTTCACTGGGAA
-1	482131	NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter)	NF1	Dec 26, 2017	MedGen:CN517202	not provided	germline	17	31337850	CATGCATGAGAGATATTCCAACGTGCAAGTGGCTGGACCAGTGGACAGAACTAGCTCAAAG
147708782	181566	NM_017534.5(MYH2):c.706G>A (p.Ala236Thr)	MYH2	Jun 01, 2014	MedGen:C1854106,OMIM:605637	Inclusion body myopathy 3	germline	17	10543746	GCCAACCCCCTACTGGAGGCCTTTGGCAACGCCAAGACCGTGAGGAATGACAACTCCTCTC
727505013	176325	NM_001399.4(EDA):c.502+1G>A	EDA	Apr 22, 2015	Human Phenotype Ontology:HP:0007607,MedGen:C1706004,Orphanet:ORPHA238468	Hypohidrotic ectodermal dysplasia	germline	X	69957133	AAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTT
121917971	79415	NM_006920.4(SCN1A):c.2804G>A (p.Arg935His)	SCN1A	Jul 17, 2017	MedGen:C0393706,Orphanet:ORPHA1934;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Early infantile epileptic encephalopathy;Severe myoclonic epilepsy in infancy;not provided	germline;unknown	2	166037885	ACTTCTTCCACTCCTTCCTGATTGTGTTCCGCGTGCTGTGTGGGGAGTGGATAGAGACCAT
121912550	29873	NM_000883.3(IMPDH1):c.931G>A (p.Asp311Asn)	IMPDH1	Jan 26, 2016	MedGen:C1867299,OMIM:180105;MedGen:CN517202	Retinitis pigmentosa 10;not provided	germline	7	128398557	GATGAGCTGGTGGCCATCATCGCCCGCACCGACCTGAAGAAGAACCGAGACTACCCTCTGG
886039390	259647	NM_006147.3(IRF6):c.668-1G>A	IRF6	Jun 10, 2015	MedGen:CN517202	not provided	germline	1	209790888	AGGACTCTCACTGTCATCTCTAACCTTGCAGTGACTGACCTGGACATCAAGTTTCAGTACC
-1	439485	NM_001284214.1(TRIP12):c.4928G>A (p.Arg1643Gln)	TRIP12	Nov 06, 2017	MedGen:CN593636,OMIM:617752	MENTAL RETARDATION, AUTOSOMAL DOMINANT 49	germline	2	229785842	TTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGT
56030372	26648	NM_178151.2(DCX):c.587G>A (p.Arg196His)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519;MedGen:C1848199,OMIM:300067,Orphanet:ORPHA2148;MedGen:C1848070	Heterotopia;Lissencephaly, X-linked;Subcortical laminar heterotopia, X-linked	germline	X	111401108	GCAGTGGGGTGAAGCCTCGGAAGGCTGTGCGTGTGCTTCTGAACAAGAAGACAGCCCACTC
62625011	27311	NM_000463.2(UGT1A1):c.923G>A (p.Gly308Glu)	UGT1A1	Feb 01, 1994	MedGen:C0010324,OMIM:218800,Orphanet:ORPHA79234	Crigler Najjar syndrome, type 1	germline	2	233767092	GAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAA
559510809	186028	NM_000038.5(APC):c.1262G>A (p.Trp421Ter)	APC	Nov 18, 2014	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112819294	AACAGATACGCGCTTACTGTGAAACCTGTTGGGAGTGGCAGGAAGCTCATGAACCAGGCAT
875989921	228169	NM_000527.4(LDLR):c.1448G>A (p.Trp483Ter)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113624	TCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTC
-1	446290	NM_172107.3(KCNQ2):c.654G>A (p.Trp218Ter)	KCNQ2	Sep 06, 2017	MedGen:CN517202	not provided	germline	20	63444695	GATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTGCTGGGCTCTGTGGTCTATGCCCAC
1057518879	360800	NM_000302.3(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1	Jun 15, 2015	Gene:101290499,Human Phenotype Ontology:HP:0001539,MedGen:C0795690,OMIM:164750,Orphanet:ORPHA660,SNOMED CT:18735004;Human Phenotype Ontology:HP:0005280,MedGen:C1836542;Human Phenotype Ontology:HP:0001290,MedGen:C1858120;Human Phenotype Ontology:HP:0000218,MedGen:C0240635;Human Phenotype Ontology:HP:0001382,MedGen:C1844820;Human Phenotype Ontology:HP:0002944,MedGen:C0749379	Congenital omphalocele;Depressed nasal bridge;Generalized hypotonia;High palate;Joint hypermobility;Thoracolumbar scoliosis	unknown	1	11965571	ACCGCACCACCCACCTGCACAACGACCTCTGGGAGGTGTTCAGCAACCCCGAGGTGAGGCC
886041914	264616	NM_001844.4(COL2A1):c.2825G>A (p.Gly942Asp)	COL2A1	Apr 21, 2017	MedGen:CN517202	not provided	germline	12	47978667	GAGGAGACAGCGGCCCCCCTGGCCGAGCTGGTGAACCCGGCCTCCAAGGTCCTGCTGGACC
773173317	438535	NM_017807.3(OSGEP):c.740G>A (p.Arg247Gln)	OSGEP	Oct 30, 2017	MedGen:CN570505,OMIM:617729	GALLOWAY-MOWAT SYNDROME 3	germline	14	20447957	TGTTTGCAATGCTGGTAGAGATCACAGAGCGAGCCATGGCACATTGTGGCTCCCAGGAGGC
-1	432104	NM_001145026.1(PTPRQ):c.6881G>A (p.Trp2294Ter)	PTPRQ	Sep 15, 2017	MedGen:CN461628,OMIM:617663	DEAFNESS, AUTOSOMAL DOMINANT 73	germline	12	80679004	TTTCTGTTATAGGTGATGTTGAGCTTGAATGGGAAGAAACCACTATGTAAATATTCAGACC
36053993	20333	NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp)	MUTYH	Oct 26, 2017	MedGen:C0699790,OMIM:114500,SNOMED CT:269533000;MedGen:C4016911;Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006;MedGen:C0027672,SNOMED CT:699346009;MedGen:C3272841;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007;Human Phenotype Ontology:HP:0030434,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:ORPHA91414;Human Phenotype Ontology:HP:0006722,MedGen:C1868072;MedGen:CN517202;MedGen:CN169374	Carcinoma of colon;Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas;Endometrial carcinoma;Hereditary cancer-predisposing syndrome;MUTYH-associated polyposis;MYH-associated polyposis;MYH-associated polyposis;MYH-associated polyposis;Neoplasm of stomach;Neoplasm of stomach;Pilomatrixoma;Small intestine carcinoid;not provided;not specified	germline;unknown	1	45331556	TGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGACTGTGGGAGTTCCCGTC
104894122	22344	NM_004560.3(ROR2):c.2246G>A (p.Trp749Ter)	ROR2	Mar 01, 2000	Human Phenotype Ontology:HP:0005831,MedGen:C1862112,OMIM:113000	Brachydactyly type B1	germline	9	91724248	TCAAGGACATCCACAGCCGGCTCCGAGCCTGGGGCAACCTTTCCAACTACAACAGCTCGGC
587779443	32242	NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del)	COL3A1	Apr 05, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188993460	CAGGGACACGCTGGTGCTCAAGGTCCTCCTGTAAGTATCATAGTTGAGAGGGAGTAAGCAT
1801483	31198	NM_000160.4(GCGR):c.118G>A (p.Gly40Ser)	GCGR	Feb 01, 1996	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006	Diabetes mellitus type 2	germline	17	81809839	GACTTCCTGTTTGAGAAGTGGAAGCTCTACGGTGACCAGTGTCACCACAACCTGAGCCTGC
59513011	426834	NM_001171.5(ABCC6):c.3883-24G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16155055	AAATGCCCACAAACCCTCTGGTCAGAGCAGGCCTTTCCTCCCAACCCCGGGCAGGTGGGCA
561449819	222924	NM_001001438.2(LSS):c.1762G>A (p.Gly588Ser)	LSS	Jan 17, 2017	MedGen:C4225300,OMIM:616509	Cataract 44	germline	21	46195731	TCCAGCTCCTGGGGAGTTTGCTTCACCTACGGCACCTGGTTTGGCCTGGAGGCCTTCGCCT
-1	474340	NM_005732.3(RAD50):c.3050G>A (p.Trp1017Ter)	RAD50	Nov 14, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	5	132616016	TTAATGTTTACCTTTAGATACAAGAAAGGTGGCTACAAGATAACCTTACTTTAAGAAAAAG
104886300	36114	NM_000495.4(COL4A5):c.4803G>A (p.Met1601Ile)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694921	TTCTCTGTGGATTGGTTATTCCTTCATGATGGTATTTTACACTCTTCCTTGCATTTGTCAT
267607717	95503	NM_000249.3(MLH1):c.208-1G>A	MLH1	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37000954	ATTATTTACTCATCTTTTTGGTATCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGG
267606936	23808	NM_006204.3(PDE6C):c.2368G>A (p.Glu790Lys)	PDE6C	Nov 17, 2009	MedGen:C2751309	Achromatopsia 5	germline	10	93663028	ATGTAGTTTCTGACCTAAAATTCCTTTTAGGAGTTCTCACGGTTTCACAAAGAAATCACAC
-1	441154	NM_000089.3(COL1A2):c.956G>A (p.Gly319Glu)	COL1A2	Jun 16, 2017	MedGen:CN517202	not provided	germline	7	94409742	TTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTAT
80357418	70077	NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter)	BRCA1	Sep 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43063890	ATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGTAAGTATAATACT
199472814	67685	NM_000218.2(KCNQ1):c.1772G>A (p.Arg591His)	KCNQ1	Jan 09, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	11	2778015	AGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTC
63750342	94993	NM_000179.2(MSH6):c.426G>A (p.Trp142Ter)	MSH6	Jul 24, 2014	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:C2936783,OMIM:120435	Lynch syndrome;Lynch syndrome I	germline	2	47791092	GTTTTTTGATGACAGCCCAACAAGGGGCTGGGTTAGCAAAAGGCTTTTAAAGCCATATACA
397515605	76716	NM_194248.2(OTOF):c.5197G>A (p.Glu1733Lys)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26462177	AACCAGCCTTCTCTCCCTGGGCCCAGGTACGAGCTGCGGGTCATCATCTGGAACACAGATG
587782933	165527	NM_001167623.1(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Apr 11, 2017	MedGen:C2751898,OMIM:603829;MedGen:CN517202	Paroxysmal familial ventricular fibrillation 1;not provided	germline	12	2504526	GGATCCTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCGTTTCT
794727481	193412	NM_000321.2(RB1):c.297G>A (p.Trp99Ter)	RB1	Jul 29, 2016	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline	13	48342631	AGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTTGAC
-1	446866	NM_138615.2(DHX30):c.2354G>A (p.Arg785His)	DHX30	Dec 18, 2017	MedGen:CN703736,OMIM:617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	germline	3	47848247	ATGTGATCCAGCGCCGGGGCCGGGCGGGCCGCTGCCAGTCCGGCTTTGCCTACCACTTGTT
869320675	204646	NM_015025.3(MYT1L):c.2636+1G>A	MYT1L	May 26, 2016	MedGen:C4225296,OMIM:616521;MedGen:CN517202	Mental retardation, autosomal dominant 39;not provided	germline	2	1887487	GTGCAAGGAGAGCAAAAAGGACTTAATAACGTAAGCATGCTGTGAGGTGAAATTATGAATC
794728966	198066	NM_001103.3(ACTN2):c.2527-1G>A	ACTN2	Sep 04, 2012	MedGen:CN517202	not provided	germline	1	236762460	TGACTGCAAACACGTGTGTATTTTTTCCCAGCCATACATCCTGGCGGAGGAGCTGCGTCGG
-1	488016	NM_000071.2(CBS):c.494G>A (p.Cys165Tyr)	CBS	Aug 24, 2017	Human Phenotype Ontology:HP:0002156,MedGen:C0019880	Homocystinuria	germline	21	43065653	CCCTGGCTGCGGCAGTGAGGGGCTATCGCTGCATCATCGTGATGCCAGAGAAGATGAGCTC
68170503	103175	NM_000531.5(OTC):c.663+1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38403741	GGAATGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAACTTTTTGCCTTGAAACTAACCC
121908523	20683	NM_000030.2(AGXT):c.121G>A (p.Gly41Arg)	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240868986	TCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCA
587784327	169799	NM_003560.3(PLA2G6):c.1117G>A (p.Gly373Arg)	PLA2G6	Jul 15, 2014	MedGen:C0270724,OMIM:256600,Orphanet:ORPHA35069,SNOMED CT:52713000;Human Phenotype Ontology:HP:0012675,MedGen:C4021076	Infantile neuroaxonal dystrophy;Iron accumulation in brain	germline	22	38129523	GTGGAGATGATCAAGGCCCTCATCGTGTTCGGAGCAGAAGTGGACACCCCGAATGACTTTG
57419521	22540	NM_002281.3(KRT81):c.1237G>A (p.Glu413Lys)	KRT81	Dec 01, 1997	MedGen:C0546966,OMIM:158000,Orphanet:ORPHA573,SNOMED CT:69488000;MedGen:CN517202	Beaded hair;not provided	germline	12	52287112	ATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCAACCAAGGGTGG
587784142	168215	NM_022455.4(NSD1):c.5309G>A (p.Trp1770Ter)	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177269607	TCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGT
1057519350	362106	NM_182476.2(COQ6):c.763G>A (p.Gly255Arg)	COQ6	Jun 07, 2016	MedGen:C3553349,OMIM:614650,Orphanet:ORPHA280406	Coenzyme Q10 deficiency, primary, 6	germline	14	73959204	AACGTAGCCTGGCAGAGATTTCTTCCCTCTGGGCCTATTGCTCTGCTCCCGGTAAGAGGTC
-1	448069	NM_001195010.1(GRHL3):c.761G>A (p.Trp254Ter)	GRHL3	Jun 26, 2017	MedGen:C1847604,OMIM:606713	Van der Woude syndrome 2	germline	1	24338050	AGAAGGTCCCAGTAGAGCAGCTGCGCTTCTGGAAGCACTGGCATTCCCGGCAACCCACTGC
121909598	31980	NM_006891.3(CRYGD):c.470G>A (p.Trp157Ter)	CRYGD	Sep 01, 2007	Human Phenotype Ontology:HP:0010926,MedGen:C1861832,OMIM:115700	Cataract 4	germline	2	208121728	TGCCAGGGGACTATAGGCGCTACCAGGACTGGGGGGCCACGAATGCCAGAGTGGGCTCTCT
121907903	408336	NM_024426.4(WT1):c.1385G>A (p.Arg462Gln)	WT1	Jun 23, 2015	MedGen:CN517202	not provided	germline	11	32392019	AGTGTAAAACTTGTCAGCGAAAGTTCTCCCGGTCCGACCACCTGAAGACCCACACCAGGAC
1049502301	260883	NM_012224.2(NEK1):c.214+1G>A	NEK1	Jun 01, 2017	MedGen:C0085084,Orphanet:ORPHA98503,SNOMED CT:37340000;MedGen:C0024507,OMIM:263520,SNOMED CT:72922008	Motor neuron disease;Short rib-polydactyly syndrome, Majewski type	paternal;unknown	4	169602007	ATATTGTCCAGTATAGAGAATCATTTGAAGGTCAGATAAATTATGCGAGAGAGTTAAAAAA
587777185	106809	NM_006702.4(PNPLA6):c.2375G>A (p.Gly792Glu)	PNPLA6	Mar 04, 2014	MedGen:C2677586,OMIM:612020,Orphanet:ORPHA139480	Spastic paraplegia 39	germline	19	7554578	ACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCG
128626242	26288	NM_004006.2(DMD):c.1952G>A (p.Trp651Ter)	DMD	Jan 01, 1994	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32565742	AAGCATGGCTGGATAACTTTGCCCGGTGTTGGGATAATTTAGTCCAAAAACTTGAAAAGAG
267607924	244372	NM_000251.2(MSH2):c.366+1G>A	MSH2	Feb 16, 2017	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005;MedGen:CN517202	Lynch syndrome;not provided	germline	2	47408556	AAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTT
397515487	77871	NM_005334.2(HCFC1):c.217G>A (p.Ala73Thr)	HCFC1	Sep 05, 2013	MedGen:C0796208,OMIM:309541,Orphanet:ORPHA369962	Mental retardation 3, X-linked	germline	X	153964703	TCCCCAGCAACCAACCAGTGGTTCATCCCAGCCGTGAGGGGGGACATTCCCCCTGGGTGTG
77625743	15758	NM_001109809.2(ZFP57):c.743G>A (p.Arg248His)	ZFP57	Aug 01, 2008	MedGen:C1832386,OMIM:601410,Orphanet:ORPHA99886	Transient neonatal diabetes mellitus 1	germline	6	29673368	AGACCTACTGTGATGCTTCTGGACTAAGTCGTCACCGCCGCGTCCATCTGGGTTACCGGCC
397514632	48558	NM_001256849.1(POLD1):c.1433G>A (p.Ser478Asn)	POLD1	Jul 11, 2017	Gene:100271691,MedGen:C2675481,OMIM:612591	Colorectal cancer 10	germline;unknown	19	50406456	AGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGA
869312728	225899	NM_017671.4(FERMT1):c.1139+740G>A	FERMT1	Jan 07, 2016	MedGen:C0406557,OMIM:173650,SNOMED CT:238835001,SNOMED CT:238836000	Kindler's syndrome	germline	20	6094199	TTTATGGTTTGTTGACTTTTCTTAACCAACGGGCACTTCACTGGGGCAGTTGGCTTTAAAG
121913530	27623	NM_033360.3(KRAS):c.34G>A (p.Gly12Ser)	KRAS	Jul 14, 2015	MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007	Colorectal Neoplasms;Juvenile myelomonocytic leukemia;Neoplasm of ovary;Neoplasm of stomach;Neoplasm of the thyroid gland;Non-small cell lung cancer	somatic	12	25245351	ACTGAATATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAGGCAAGAGTGCCTTGACGATAC
869312880	226729	NM_022912.2(REEP1):c.595+1G>A	REEP1	Jun 04, 2014	MedGen:C1853247,OMIM:610250,Orphanet:ORPHA101011	Spastic paraplegia 31, autosomal dominant	germline	2	86232624	GGAGTGCTTCTGAGAGCGCTAGCAGCTCAGGTAGGTGTCACTTTACTTCCCCTCTTTCCCA
199476115	24756	m.5244G>A	MT-ND2	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	5244	CTCTCCCTAGGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTATCGAAG
66550389	103044	NM_000531.5(OTC):c.275G>A (p.Arg92Gln)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369854	TAGGCATGATTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAGGTAAGTC
587776786	28123	NM_000321.2(RB1):c.2212-1G>A	RB1	Nov 01, 1989	Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Retinoblastoma	somatic	13	48464997	TTTTTTTTTTTTTTTTACTGTTCTTCCTCAGACATTCAAACGTGTTTTGATCAAAGAAGAG
765430577	237474	NM_004826.3(ECEL1):c.1184G>A (p.Arg395Gln)	ECEL1	Jan 08, 2013	MedGen:C3554415,OMIM:615065,Orphanet:ORPHA329457	Arthrogryposis, distal, type 5d	inherited	2	232484472	TGTCGCAGCTCATCCGCTCCACACCCCACCGGTATGGCTGCAGATCTGGCATTTTCTGCCC
147118493	205138	NM_001298.2(CNGA3):c.101+1G>A	CNGA3	Mar 15, 2016	MedGen:C1857618,OMIM:216900;MedGen:CN517202	Achromatopsia 2;not provided	germline	2	98370077	TCTCAATCGCGCTGAAAATGGCCTCAGCAGGTAAGATGGGCTAAGATGGGCTTTTCATTTT
80358543	131539	NM_000059.3(BRCA2):c.2978G>A (p.Trp993Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:CN517202	Breast-ovarian cancer, familial 2;not provided	germline	13	32337333	CAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCA
267606913	21057	NM_004553.4(NDUFS6):c.344G>A (p.Cys115Tyr)	NDUFS6	Sep 01, 2009	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	5	1815885	AAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTTCAGACAGCACCACCACTA
794728652	419830	NM_130799.2(MEN1):c.783+1G>A	MEN1	Nov 01, 2017	MedGen:C0027672,SNOMED CT:699346009;na;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Metastatic pancreatic neuroendocrine tumours;not specified	germline;somatic	11	64807551	GACTCGCTGGAGCTTCTGCAGCTGCAGCAGGTGAGGGCTGAGCCAATGGGGCAGGACTGGG
1114167282	243894	NM_001328664.1(ARHGAP29):c.2109+1G>A	ARHGAP29	Mar 25, 2016	MedGen:C1861538	Nonsyndromic cleft lip with or without cleft palate	germline	1	94184871	GAGATTGAAAATAGAGCTTTGTGTCTACAGGTACATTATAACTCTTAAAATTTTAAAAAGC
1057523689	380152	NM_003630.2(PEX3):c.991G>A (p.Gly331Arg)	PEX3	Jul 20, 2017	MedGen:CN240842,OMIM:617370	Peroxisome biogenesis disorder 10b	germline	6	143485201	CCTTTAGCTAAGATAATTCCAATAGTAAACGGACAGATCCATTCAGTTTGCAGTGAAACAC
121964891	27256	NM_000490.4(AVP):c.275G>A (p.Cys92Tyr)	AVP	Nov 01, 1998	Human Phenotype Ontology:HP:0000863,MedGen:C0687720,OMIM:125700,Orphanet:ORPHA178029,SNOMED CT:45369008	Neurohypophyseal diabetes insipidus	germline	20	3083024	CGTCGCCCTGCCAGTCCGGCCAGAAGGCGTGCGGGAGCGGGGGCCGCTGCGCCGCCTTCGG
1057517933	359406	NM_024665.5(TBL1XR1):c.1108G>A (p.Asp370Asn)	TBL1XR1	Oct 05, 2016	MedGen:CN517202	not provided	germline	3	177038112	ACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAG
587777386	136551	NM_001615.3(ACTG2):c.119G>A (p.Arg40His)	ACTG2	Aug 01, 2016	MedGen:C1835084,OMIM:155310,Orphanet:ORPHA2241	Visceral myopathy	de novo;germline;maternal;paternal;unknown	2	73901430	CTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCAC
113994145	34074	NM_000920.3(PC):c.1892G>A (p.Arg631Gln)	PC	Sep 28, 2016	MedGen:C0034341,OMIM:266150,SNOMED CT:87694001;MedGen:CN517202	Pyruvate carboxylase deficiency;not provided	germline	11	66851880	AGTGCCCCTGGCGGCGGCTGCAGGAGCTCCGGGAGCTCATCCCCAACATCCCTTTCCAGAT
121918662	27770	NM_198253.2(TERT):c.2080G>A (p.Val694Met)	TERT	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006;MedGen:C3553617,OMIM:614742	Aplastic anemia;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	germline	5	1279341	GACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAGGACCCGCCGC
267607795	186317	NM_000249.3(MLH1):c.791-1G>A	MLH1	Aug 12, 2016	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	3	37017505	TTGAACTGGTTGCTTTCTTTTTATTGTTTAGATCGTCTGGTAGAATCAACTTCCTTGAGAA
587784185	168258	NM_022455.4(NSD1):c.6258+1G>A	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177288926	TGCAGTGGCTTCTTGGGTGTAAGGCCAAAGGTACCACCCTTCTAGACTTCTGCTTTGGGAT
587779639	107117	NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp)	COL3A1	Jan 18, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	189007600	GAGGATTCCCTGGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCATTTTGTTGGA
587776752	26551	NM_001011658.3(TRAPPC2):c.93+5G>A	TRAPPC2	Jun 01, 2001	MedGen:C0220776,OMIM:313400,SNOMED CT:51952004	Spondyloepiphyseal dysplasia tarda	germline	X	13719866	TGCCAGCTGGGAAGGCAGAATCCAAAGTACGTAAGAATTTTTATGCTATTGTAATGATATG
1060501410	396689	NM_000118.3(ENG):c.991G>A (p.Gly331Ser)	ENG	May 16, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN169374	Osler hemorrhagic telangiectasia syndrome;not specified	germline	9	127824800	AGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCC
61750638	365228	NM_000350.2(ABCA4):c.5898+1G>A	ABCA4	Sep 28, 2015	MedGen:CN517202	not provided	germline	1	94008234	AGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGC
28939089	103702	NM_003978.4(PSTPIP1):c.748G>A (p.Glu250Lys)	PSTPIP1	Sep 06, 2015	MedGen:C1858361,OMIM:604416,Orphanet:ORPHA69126;MedGen:CN517202	Pyogenic arthritis, pyoderma gangrenosum and acne;not provided	germline	15	77032304	GGCCTCTGCTCTTTCCTGCCCCAGCTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCA
-1	481677	NM_145860.1(PDCD10):c.268+1G>A	PDCD10	Jan 03, 2018	MedGen:CN517202	not provided	germline	3	167697008	TTCTTCGTATGGCAGCTGATGATGTAGAAGGTAACGGACAGAAGAACCTTGTTTAAGTTAT
137852241	25630	NM_000133.3(F9):c.677G>A (p.Arg226Gln)	F9	Jul 01, 1993	MedGen:CN043453	Hemophilia b(m)	germline	X	139551218	AAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGG
104894422	17045	NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr)	SGCG	Mar 26, 2017	MedGen:C0410173,OMIM:253700,Orphanet:ORPHA353,SNOMED CT:240056002	Severe autosomal recessive muscular dystrophy of childhood - North African type	germline	13	23324513	ACCTGTCTGTGGCCGGTGTGAGCACCACGTGCCAGGAGCACAACCACATCTGCCTCTGAGC
727503029	176783	NM_000501.3(ELN):c.1097-1G>A	ELN	Nov 29, 2013	Human Phenotype Ontology:HP:0004381,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED CT:268185002	Supravalvar aortic stenosis	germline	7	74054715	TGAGCATTTGTGTCCCTTTTGGTCTCTCCAGGGGTTGTGTCACCAGAAGCAGCTGCTAAGG
878853002	236980	NM_000342.3(SLC4A1):c.1825G>A (p.Gly609Arg)	SLC4A1	May 18, 2015	MedGen:CN517202	not provided	de novo	17	44255272	CCCCAGCTGCGTCGGGTCATCGGGGACTTCGGGGTCCCCATCTCCATCCTGATCATGGTCC
45517395	59092	NM_000548.4(TSC2):c.5138G>A (p.Arg1713His)	TSC2	Aug 02, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2088117	TGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGG
184953805	353892	NM_033629.4(TREX1):c.629G>A (p.Trp210Ter)	TREX1	May 05, 2015	MedGen:C0796126,OMIM:225750	Aicardi Goutieres syndrome 1	paternal	3	48467284	ATGTCCTGGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGA
61754392	18831	NM_000372.4(TYR):c.1255G>A (p.Gly419Arg)	TYR	Feb 01, 1991	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89284843	GAAGTTTATCCAGAAGCCAATGCACCCATTGGACATAACCGGGAATCCTACATGGTTCCTT
397515588	76691	NM_194248.2(OTOF):c.1780G>A (p.Glu594Lys)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26480809	GAGCTCACCAGCTCCACAGAGGTGCAGGTGGAGCAGGCCACGCCCATCTCGGAGGTGAGAC
876658983	235205	NM_024675.3(PALB2):c.2693G>A (p.Trp898Ter)	PALB2	Nov 15, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	16	23626291	TAACTGCTTGCGAAGATGTAGTTTCTCTTTGGAAAGCTCTGGATGCTTGGCAGTGGGAAAA
45517218	409484	NM_000548.4(TSC2):c.2221-1G>A	TSC2	Jul 25, 2016	MedGen:CN517202	not provided	germline	16	2072848	GAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTC
724159992	171753	NM_000663.4(ABAT):c.275G>A (p.Arg92Gln)	ABAT	Sep 11, 2017	MedGen:C0342708,OMIM:613163,Orphanet:ORPHA2066,SNOMED CT:237941007	Gamma-aminobutyric acid transaminase deficiency	germline	16	8750498	GCAATTACCTGGTTGATGTGGACGGCAACCGAATGCTGGATCTTTATTCCCAGATCTCCTC
1064796893	410041	NM_004247.3(EFTUD2):c.2466+1G>A	EFTUD2	Mar 16, 2017	MedGen:CN517202	not provided	germline	17	44853516	AGGAGAGTCGTCTACTCTGCCTTCCTCATGGTAAGAGAATGGGGCGGTAGGGGACCATCTG
-1	471871	NM_004006.2(DMD):c.186+1G>A	DMD	May 26, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32849727	CTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTT
587783823	169955	NM_000252.2(MTM1):c.3G>A (p.Met1Ile)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150592617	TGTTGTGTTTCTTGGTAGAGTTTCCAGGATGGCTTCTGCATCAACTTCTAAATATAATTCA
104893751	22641	NM_016828.2(OGG1):c.137G>A (p.Arg46Gln)	OGG1	Sep 01, 2000	Human Phenotype Ontology:HP:0006770,MedGen:C0279702,Orphanet:ORPHA319276,SNOMED CT:188251003,SNOMED CT:254915003	Clear cell carcinoma of kidney	somatic	3	9750423	ACCTGGTTCTGCCTTCTGGACAATCTTTCCGGTGAGTGACTGAGCCTGAGAAGCCTGTCCC
121918218	16385	NM_138959.2(VANGL1):c.715G>A (p.Val239Ile)	VANGL1	Sep 23, 2016	MedGen:C0300948;MedGen:CN517202	Caudal regression syndrome;not provided	germline;unknown	1	115664171	GCCCTCCTCTTCATCCATTACCTGGCCATCGTCCTGCTGGAGCTCAGGCAGCTGCAGCCCA
75549581	22162	NM_000492.3(CFTR):c.1675G>A (p.Ala559Thr)	CFTR	Sep 26, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN517202	Cystic fibrosis;Hereditary pancreatitis;not provided	germline;unknown	7	117587829	AGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGGTGAATAACTAATTATTGGTCTAGCA
398124381	101961	NM_022455.4(NSD1):c.6463+1G>A	NSD1	Jun 10, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177292159	ACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACT
62516152	108520	NM_000277.2(PAH):c.688G>A (p.Val230Ile)	PAH	Aug 04, 2017	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline;unknown	12	102855154	CATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACAT
571517554	181280	NM_032415.5(CARD11):c.368G>A (p.Gly123Asp)	CARD11	Feb 25, 2015	MedGen:CN231446,OMIM:616452	B-cell expansion with NFKB and T-cell anergy	germline	7	2944528	CTGGGTGCCCCCTCTCCACAGTGGAGGAAGGCCACGAGGGCCTCACGCACTTCCTGATGAA
121908605	21148	NM_004531.4(MOCS2):c.502G>A (p.Glu168Lys)	MOCS2	Jul 11, 2003	MedGen:C1854989,OMIM:252160,Orphanet:ORPHA308393	Molybdenum cofactor deficiency, complementation group B	germline	5	53098667	TTTAATACCTGTTATGATTTTGTTTTTTAGGAAATATACGAAGAGTCATCAACTTGGAAAG
606231296	167523	NM_006254.3(PRKCD):c.1528G>A (p.Gly510Ser)	PRKCD	Aug 01, 2013	MedGen:C3809928,OMIM:615559	Autoimmune lymphoproliferative syndrome, type III	germline	3	53188832	TTCGGGGAGAGCCGGGCCAGCACCTTCTGCGGCACCCCTGACTATATCGCCCCTGAGGTGA
1057519023	243941	NG_051105.1:g.97864G>A	MME	Jul 06, 2016	MedGen:C4015635,OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	germline	3	155116987	GATAAGAATTCTGTGAATCATGTAATTCATGTAAGTTTGTGTGTCAAATAACTAAAGTTAC
121918708	27607	NM_001128177.1(THRB):c.1148G>A (p.Arg383His)	THRB	Sep 01, 1999	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24123122	AATGTCCATCTTCTCTCTTCCCCGCAGATCGCCCGGGGCTTGCCTGTGTTGAGAGAATAGA
62645894	360557	NM_000330.3(RS1):c.208G>A (p.Gly70Ser)	RS1	Jan 04, 2016	MedGen:CN517202	not provided	germline	X	18647309	TTCCCAGAATGCCCATATCACAAGCCTCTGGGTTTCGAGTCAGGGGAGGTCACACCGGACC
544312701	48042	NR_023343.1(RNU4ATAC):n.124G>A	RNU4ATAC	Jan 07, 2013	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	Osteodysplastic primordial dwarfism, type 1	germline	2	121531003	AGCTTTTGCTTTATTTTGGTGCAATTTTTGGAAAAATGAAAACCTGTTTTCATAGACTTAT
-1	456216	NM_138694.3(PKHD1):c.11612G>A (p.Trp3871Ter)	PKHD1	May 10, 2017	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003	Autosomal recessive polycystic kidney disease	germline	6	51632618	TGGCTGCTTCCCTGTCCTCTGTGGCCTCATGGCTGGCTCTGAGCTGTCTGGTGTGCTGTTG
777566074	427083	NM_001171.5(ABCC6):c.191G>A (p.Arg64Gln)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16221677	TCATCCACCACCATGGCCGGGGCTACCTCCGGATGTCCCCACTCTTCAAAGCCAAGATGGT
193302910	222916	NM_000202.7(IDS):c.401G>A (p.Gly134Glu)	IDS	Feb 26, 2008	MedGen:C0026705,OMIM:309900,SNOMED CT:70737009	Mucopolysaccharidosis, MPS-II	maternal	X	149503329	AGGAGAATGGCTATGTGACCATGTCGGTGGGAAAAGTCTTTCACCCTGGTACTGCTCCATG
121912917	32255	NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp)	COL3A1	Aug 12, 2016	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	189008952	AGGGCTCCCCAGGCCACCCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGCCCCTGGTCC
121909654	31304	NM_182925.4(FLT4):c.2632G>A (p.Val878Met)	FLT4	Oct 01, 2006	MedGen:C1704423,OMIM:153100,Orphanet:ORPHA79452,SNOMED CT:399889006	Hereditary lymphedema type I	germline	5	180619680	CACAAGGGCAGCAGCTGTGACACCGTGGCCGTGAAAATGCTGAAAGGTGTGGGGTCAGCGG
-1	424468	NM_172079.2(CAMK2B):c.328G>A (p.Glu110Lys)	CAMK2B	Dec 08, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:CN679648,OMIM:617799	Intellectual disability;MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	de novo;germline	7	44254555	GAAGACATTGTGGCGAGAGAGTACTACAGCGAGGCTGATGCCAGGTGGGTGCAGAGCCCTC
387906478	25640	NM_000133.3(F9):c.697G>A (p.Ala233Thr)	F9	Sep 01, 1989	MedGen:C0008533,OMIM:306900,Orphanet:ORPHA98879,SNOMED CT:41788008	Hereditary factor IX deficiency disease	germline	X	139551238	GACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTAC
28937316	24408	NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His)	SCN5A	Apr 05, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:C1859062,OMIM:603830;MedGen:CN517202	Brugada syndrome;Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome 3;not provided	germline	3	38551441	TCAGACTGATCCGAGGGGCCAAGGGGATCCGCACGCTGCTCTTTGCCCTCATGATGTCCCT
28940568	17895	NM_173076.2(ABCA12):c.4951G>A (p.Gly1651Ser)	ABCA12	Sep 15, 2003	MedGen:C1832550,OMIM:601277	Autosomal recessive congenital ichthyosis 4A	germline	2	214978830	GGCATGGGTGACCTCAACATCGGGTGCTACGGCATTTCAGATACCACCGTGGAGGAGGTAT
374742590	266536	NM_016239.3(MYO15A):c.3866+1G>A	MYO15A	Aug 27, 2015	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18126457	CAACGGACGGGCCCTGGGAGAGAATCCCCCGTGAGTGTCTCGGGGGCGCTGCCCTGGGGTC
113993984	34184	NM_002863.4(PYGL):c.2017G>A (p.Glu673Lys)	PYGL	May 17, 2011	MedGen:C0017925,OMIM:232700,Orphanet:ORPHA369,SNOMED CT:237971004,SNOMED CT:29291001	Glycogen storage disease, type VI	not provided	14	50910055	CTGTCAGAGCAGATTTCCACTGCAGGCACCGAAGCCTCGGGGACAGGCAATATGAAGTTCA
5907	29991	NM_000185.3(SERPIND1):c.623G>A (p.Arg208His)	SERPIND1	Mar 25, 1989	MedGen:C0398626,OMIM:612356,SNOMED CT:234468009	Heparin cofactor II deficiency	germline	22	20779935	TTCATAATCTCTTCCGTAAGCTGACTCATCGCCTCTTCAGGAGGAATTTTGGGTACACACT
1057518701	361265	NM_000451.3(SHOX):c.544+1G>A	SHOX	Mar 13, 2015	MedGen:C1845118,OMIM:300582,Orphanet:ORPHA314795	Short stature, idiopathic, X-linked	paternal	X	640879	GCCGCAAACAAGAGAATCAGATGCATAAAGGTGGGTGTCGGGACTGGGGGGACCTGAAGCT
72651661	413998	NM_000088.3(COL1A1):c.2335G>A (p.Gly779Ser)	COL1A1	-	MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta with normal sclerae, dominant form	unknown	17	50190825	ATTGGTCCTCCTGGCCCTGCTGGTGCCCCTGGTGACAAGGTGAGGTGGCCGCCTCCCCACC
281865424	32635	NM_000550.2(TYRP1):c.1067G>A (p.Arg356Gln)	TYRP1	Jun 01, 2006	MedGen:C1859932,OMIM:203290	Oculocutaneous albinism type 3	germline	9	12702424	CTTTTTATTCCAACTCTACAAACAGTTTCCGAAACACAGTGGAAGGCAAGTAAATGAAATC
387907221	44196	NM_018475.4(TMEM165):c.377G>A (p.Arg126His)	TMEM165	Jul 18, 2012	MedGen:C3553571,OMIM:614727,Orphanet:ORPHA314667	Congenital disorder of glycosylation type 2k	germline	4	55411783	TAGCAGCCATCATGGCAATGCGCTATAACCGCCTGACCGTGCTGGCTGGTGCAATGCTTGC
879254824	246037	NM_000527.4(LDLR):c.1187-1G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11113277	GACCCCCTGACCTCGCTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACC
45506396	58550	NM_000548.4(TSC2):c.849-1G>A	TSC2	Apr 14, 2015	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2058746	CACATTCCGTCTCTCTGGGGAACACTTTTAGAGCCTACATGGAGGACGCGCCCCTGCTGAG
104894800	26524	NM_006579.2(EBP):c.238G>A (p.Glu80Lys)	EBP	Feb 08, 2013	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48524009	GCAGTGTGTGGGTTCATTCACCTGGTGATCGAGGGCTGGTTCGTTCTCTACTACGAAGACC
387907083	39994	NM_001083961.1(WDR62):c.1531G>A (p.Asp511Asn)	WDR62	Nov 01, 2010	MedGen:C1858535,OMIM:604317	Primary autosomal recessive microcephaly 2	germline	19	36083222	AGTCCTGACGGCCAGCATTTGGCTTCAGGCGACCGAAGTGGAAATCTGAGGCAAGTGGGCC
774455945	247170	NM_002250.2(KCNN4):c.1055G>A (p.Arg352His)	KCNN4	Dec 11, 2015	MedGen:C4225242,OMIM:616689;MedGen:CN517202	Dehydrated hereditary stomatocytosis 2;not provided	germline;unknown	19	43769027	ACTGACTCCCCACTTCTTCCCACAGGTTCCGCCAGGTGCGGCTGAAACACCGGAAGCTCCG
113994208	34292	NM_004937.2(CTNS):c.613G>A (p.Asp205Asn)	CTNS	Jul 05, 2017	MedGen:CN035091,Orphanet:ORPHA213,SNOMED CT:190681003;MedGen:C0010690,OMIM:219800	Cystinosis;Nephropathic cystinosis	germline	17	3656727	CCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCC
796051959	200074	NM_004453.3(ETFDH):c.1073G>A (p.Arg358Lys)	ETFDH	Feb 04, 2013	MedGen:CN517202	not provided	germline	4	158699087	GCATTCGGCCAACCTTGGAAGGTGGAAAAAGGATTGCATACGGAGCCAGAGCTCTCAATGA
104894381	23033	NM_000192.3(TBX5):c.238G>A (p.Gly80Arg)	TBX5	Mar 16, 1999	MedGen:C0265264,OMIM:142900,SNOMED CT:19092004	Holt-Oram syndrome	germline	12	114401830	GTGGGCACGGAAATGATCATAACCAAGGCTGGAAGGTGAGATGGTTTGTTGTGTAGAGAGA
875989828	204406	NM_014722.4(RIPOR2):c.102-1G>A	RIPOR2	Jul 08, 2014	MedGen:C4225298,OMIM:616515	Deafness, autosomal recessive 104	germline	6	24873800	ATCCTCACAATTTCTTCTGTTCTTTCCATAGGTGTAACTCCTTCATTGAAAATTCCTCCGC
-1	442139	NM_000435.2(NOTCH3):c.1646G>A (p.Cys549Tyr)	NOTCH3	Dec 29, 2016	MedGen:CN517202	not provided	germline	19	15187299	GCACGCTGTGTGATCGCAACGTGGACGACTGCTCCCCTGACCCATGCCACCATGGTCGCTG
-1	455181	NM_133433.3(NIPBL):c.6589+5G>A	NIPBL	Feb 06, 2017	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37046204	ACAAACAAAAGCTATCATTGGTCTAGGTAAGTCTAAATTTCTTTATAATTTGTAGCTATTT
974377052	444887	NM_030813.5(CLPB):c.963+1G>A	CLPB	Nov 11, 2015	MedGen:CN517202	not provided	germline	11	72329706	ATGAAGCTTCTGAGGACTTCTGAAGCCAAGGTAAGTCTCAGGGAAGGGAGGAGGCCTGTGG
267606670	27954	NM_152296.4(ATP1A3):c.2767G>A (p.Asp923Asn)	ATP1A3	Jul 23, 2015	MedGen:C3553788,OMIM:614820;MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Alternating hemiplegia of childhood 2;Dystonia 12	germline	19	41968837	TTTGTGAGCATCGTTGTCGTCCAGTGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACT
1114167731	419447	NM_000179.2(MSH6):c.1115G>A (p.Trp372Ter)	MSH6	Jul 31, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47799098	CTACTGTTTGGTATCATGAAACTTTAGAATGGCTTAAGGAGGAAAAGAGAAGAGATGAGCA
121908435	20616	NM_014112.4(TRPS1):c.2762G>A (p.Arg921Gln)	TRPS1	Jan 24, 2017	MedGen:C0432233,OMIM:190350,SNOMED CT:254091006;MedGen:C1860823,OMIM:190351	Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome type 3	germline	8	115418391	ATTGCCTGACCACAAAGACCTCTCTCTGGCGAAAGAATGCAAATGGCGGATATGTATGCAA
515726188	136336	NM_015713.4(RRM2B):c.391G>A (p.Glu131Lys)	RRM2B	Apr 17, 2014	MedGen:CN187502	RRM2B-related mitochondrial disease	germline	8	102224949	CGCTGTTTCTATGGCTTTCAAATTCTCATCGAGAATGTTCACTCAGAGATGTACAGTTTGC
146645381	45824	NM_178497.3(C4orf26):c.318G>A	ODAPH	Sep 07, 2012	MedGen:C3553830,OMIM:614832	Amelogenesis imperfecta, hypomaturation type IIA4	germline	4	75564364	CCACCGTTTTCCATTCCAGCCATTTTATTGGCCACACCGTTACCTTACTTATAGGTATTTC
1064793933	406684	NM_000806.5(GABRA1):c.752G>A (p.Gly251Asp)	GABRA1	Aug 10, 2015	MedGen:CN517202	not provided	germline	5	161890946	CCACTCATTTCCACTTGAAGAGAAAGATTGGCTACTTTGTTATTCAAACATACCTGCCATG
879255049	246367	NM_000527.4(LDLR):c.1845+1G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;inherited;not applicable	19	11116999	GCCCACCCCTTCTCCTTGGCCGTCTTTGAGGTGTGGCTTACGTACGAGATGCAAGCACTTA
121913157	29748	NM_000208.3(INSR):c.3540G>A (p.Met1180Ile)	INSR	Jun 07, 1994	Human Phenotype Ontology:HP:0000855,MedGen:C0021655	Insulin resistance	germline	19	7120739	TGAACCTTTTGTGTTGTCAGACTTTGGAATGACCAGAGACATCTATGAAACGGATTACTAC
369552114	266731	NM_000070.2(CAPN3):c.1993-1G>A	CAPN3	Nov 02, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2A;not provided	germline;unknown	15	42409786	AACCATGACCCTCCTCTCCCTTCCTCCTCAGGACATGGAGATCTGTGCAGATGAGCTCAAG
1057519351	362108	NM_182476.2(COQ6):c.1341G>A (p.Trp447Ter)	COQ6	Jun 07, 2016	MedGen:C3553349,OMIM:614650,Orphanet:ORPHA280406	Coenzyme Q10 deficiency, primary, 6	germline	14	73961867	TGCCTCCCCGCTTGTGTTGCTCAGGACGTGGGGCTTGCAGGCCACAAATGCAGTGTCTCCA
137852548	24966	NM_002637.3(PHKA1):c.667G>A (p.Gly223Arg)	PHKA1	May 13, 2008	MedGen:C1845151,OMIM:300559,Orphanet:ORPHA715	Glycogen storage disease IXd	germline	X	72667425	GATGAACTGGATCTGTTTGGTGTGAAAGGTGGGCCTCAATCAGTTATCCATGTCCTGGCTG
121907933	18475	NM_024105.3(ALG12):c.301G>A (p.Gly101Arg)	ALG12	Jun 15, 2007	MedGen:C2931001,OMIM:607143,Orphanet:ORPHA79324,SNOMED CT:711155008	ALG12-congenital disorder of glycosylation	germline	22	49910602	AGGTGCTGTCACTGTCTTTGTTTAGTTAGAGGAGTGCTTGGACTCGGCGTGATTTTTGGAC
386834230	97386	NM_000693.3(ALDH1A3):c.211G>A (p.Val71Met)	ALDH1A3	-	MedGen:CN517202	not provided	inherited	15	100887578	CTCTCTGTTGTTCTGGTCGCTCAGCCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTTG
281875186	38969	NM_003070.4(SMARCA2):c.3485G>A (p.Arg1162His)	SMARCA2	Jun 09, 2016	MedGen:C1303073,OMIM:601358,Orphanet:ORPHA3051,SNOMED CT:401046009;MedGen:CN517202	Nicolaides-Baraitser syndrome;not provided	de novo;germline	9	2115850	AGGATCTGCAGGCCCAAGACCGAGCTCACCGCATCGGGCAGCAGAACGAGGTCCGGGTACT
121917836	28252	NM_003018.3(SFTPC):c.196G>A (p.Glu66Lys)	SFTPC	Jan 01, 2005	MedGen:C1970470,OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2	germline	8	22162727	ATGGGTCTCCACATGAGCCAGAAACACACGGAGATGGTGAGAGGTGTGGGATGCACAGCAG
-1	432424	NM_001127899.3(CLCN5):c.1676G>A (p.Trp559Ter)	CLCN5	Oct 28, 2013	MedGen:C1848336,OMIM:300009	Dent disease 1	maternal	X	50088816	ACCACCAGGAATGGACCGTCTTCAATAGCTGGTGTAGTCAGGGAGCTGATTGCATCACCCC
281865089	33950	NM_000195.4(HPS1):c.1749G>A (p.Trp583Ter)	HPS1	Oct 11, 2012	MedGen:C2931875,OMIM:203300	Hermansky-Pudlak syndrome 1	not provided	10	98420153	GTGATGCTTGCTGTCTTTTCCCCAGGTCTGGTCTCTGATCCAGCTGGCGCGCAGATACCTG
-1	432286	NM_000092.4(COL4A4):c.594+1G>A	COL4A4	Apr 20, 2017	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919	Alport syndrome, autosomal recessive	germline	2	227111677	AGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTA
104894754	25884	NM_000054.4(AVPR2):c.253G>A (p.Asp85Asn)	AVPR2	Nov 01, 1997	MedGen:C1563705,OMIM:304800	Nephrogenic diabetes insipidus, X-linked	germline	X	153905759	CACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGC
28934605	16698	NM_000785.3(CYP27B1):c.374G>A (p.Gly125Glu)	CYP27B1	Mar 05, 1998	MedGen:C0268689,OMIM:264700,Orphanet:ORPHA289157,SNOMED CT:67049004	Vitamin D-dependent rickets, type 1	germline	12	57766019	AGCACCGCCGCTGCCGCCAGCGGGCTTGCGGACTGCTCACTGCGTGAGTCTTCTCTGCCCC
587776558	18315	NM_024529.4(CDC73):c.131+1G>A	CDC73	Nov 15, 2016	MedGen:C1840402,OMIM:145000;MedGen:C2675664;MedGen:CN517202	Hyperparathyroidism 1;Parathyroid adenoma, somatic;not provided	germline;somatic;unknown	1	193122332	GAATGTGAAGACCAACTATGTTGTTTGGGGGTAAGTCCGGCATGGCTGTGGCCCAGGGGTG
104894016	31184	NM_000162.3(GCK):c.1132G>A (p.Ala378Thr)	GCK	Oct 01, 2006	MedGen:C1841962,OMIM:125851	Maturity-onset diabetes of the young,  type 2	germline	7	44145618	CGCCGCGCCTGCGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGG
377384434	481560	NM_019032.5(ADAMTSL4):c.2375G>A (p.Trp792Ter)	ADAMTSL4	Jun 29, 2017	MedGen:CN517202	not provided	germline	1	150558142	TCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGG
121913072	31572	NM_000129.3(F13A1):c.980G>A (p.Arg327Gln)	F13A1	Feb 01, 2001	Human Phenotype Ontology:HP:0040233,MedGen:C2750514,OMIM:613225	Factor xiii, a subunit, deficiency of	germline	6	6222165	GCTGTGGTCTGTCCTTTCCTGTAGTTTTACGATGCCTTGGAATACCAGCAAGAATTGTTAC
118203976	16041	NM_152778.2(MFSD8):c.1286G>A (p.Gly429Asp)	MFSD8	Jul 01, 2007	MedGen:C1838571,OMIM:610951,Orphanet:ORPHA228366	Ceroid lipofuscinosis neuronal 7	germline	4	127921588	TCCTTACATCAGCTGTGCTAATAGGATTAGGCTATCCAGTCTGCAATCTTATGTCCTATAC
-1	442164	NM_000435.2(NOTCH3):c.521G>A (p.Cys174Tyr)	NOTCH3	Mar 24, 2015	MedGen:CN517202	not provided	germline	19	15192118	TGGGTGAGCCCTGCCGCCATGGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCA
1064793668	405451	NM_001256850.1(TTN):c.73481G>A (p.Trp24494Ter)	TTN	Jun 18, 2015	MedGen:CN517202	not provided	germline	2	178567728	TAGAGAAACGTGATTTGCCTGATGGTCGTTGGATGAAAGCTAGCTTTACAAATGTCATTGA
138326449	143193	NM_000040.2(APOC3):c.55+1G>A	APOC3	Jul 03, 2014	MedGen:C0010068;MedGen:C3151467,OMIM:614028	Coronary heart disease;Hyperalphalipoproteinemia 2	germline	11	116830638	TTGCCCTCCTGGCGCTCCTGGCCTCTGCCCGTAAGCACTTGGTGGGACTGGGCTGGGGGCA
786201059	185345	NM_000546.5(TP53):c.856G>A (p.Glu286Lys)	TP53	Aug 08, 2017	Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007;Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;MeSH:D015179,MedGen:CN236642;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Gene:7864,Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006739,MedGen:C0553723;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:C4288013;MedGen:CN517202	Acute myeloid leukemia;Adenocarcinoma of lung;Adenocarcinoma of stomach;Carcinoma of esophagus;Colorectal Neoplasms;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Malignant melanoma of skin;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Vulvar adenocarcinoma of mammary gland type;not provided	germline;somatic	17	7673764	GCCTGTCCTGGGAGAGACCGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTC
28929480	32814	NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys)	SLC4A1	Jun 01, 2001	MedGen:C2675212,OMIM:612653	Spherocytosis type 4	germline	17	44260716	CGCTGGGTGCAACTGGAGGAGAACCTGGGGGAGAATGGGGCCTGGGGCCGCCCGCACCTCT
372929441	130984	NM_001080442.2(SLC38A8):c.697G>A (p.Glu233Lys)	SLC38A8	Dec 05, 2013	Gene:550626,MedGen:C1836603,OMIM:609218	Foveal hypoplasia 2	germline	16	84022883	GCTGAGCCGCCCTCTGTCTTACAGTGTCACGAAGCTGCCGTCTCCATCTACTGCAGCATGC
377147994	360185	NM_002225.3(IVD):c.559+1G>A	IVD	Nov 23, 2016	MedGen:CN517202	not provided	germline	15	40411354	TCTCTATGAAGCTCAAAGCGGAAAAGAAAGGTGAGGCCACTCTCAACTTGGGAGCCAAAAT
180177152	24978	NM_002764.3(PRPS1):c.259G>A (p.Ala87Thr)	PRPS1	Jan 01, 2010	MedGen:C1844677,OMIM:304500,OMIM:304590	Deafness, X-linked 1	germline	X	107639431	TGCAAGATTGCTTCAGCCAGCCGGGTTACTGCAGTCATCCCATGCTTCCCTTATGCCCGGC
104894886	25989	NM_000475.4(NR0B1):c.1107G>A (p.Trp369Ter)	NR0B1	Dec 15, 1994	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308257	AGCCATCAAGTGCTTTCTTTCCAAATGCTGGAGTCTGAACATCAGTACCAAGGAGTACGCC
587777595	152772	NM_003995.3(NPR2):c.2647G>A (p.Val883Met)	NPR2	Oct 01, 2013	MedGen:C4014690,OMIM:615923,Orphanet:ORPHA329191	Epiphyseal chondrodysplasia, miura type	germline	9	35807333	GGGCCTCTGCTTTTCTATCCCTTTTAGGTAGTGACACTTCTTAATGACCTGTATACCTGCT
104894103	19470	NM_175073.2(APTX):c.837G>A (p.Trp279Ter)	APTX	Feb 06, 2017	MedGen:C1859598,OMIM:208920,Orphanet:ORPHA1168;MedGen:CN517202	Adult onset ataxia with oculomotor apraxia;not provided	germline	9	32974495	TTCTCCTTGCCTTAAAAACAAAAAACATTGGAATTCTTTCAATACAGAATACTTCCTAGAA
769975073	209388	NM_016008.3(DYNC2LI1):c.372G>A (p.Trp124Ter)	DYNC2LI1	Jun 16, 2015	MedGen:C4310724,OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	germline;maternal	2	43794508	TCTGGATCTTTCAAAACCTAATGATCTCTGGCCCACCATGGAAAATCTCTTGCAAGCCACA
61750138	237670	NM_000350.2(ABCA4):c.4253+5G>A	ABCA4	May 09, 2017	Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:C0271093,Orphanet:ORPHA827,SNOMED CT:70099003;MeSH:C535804,MedGen:C1855465,OMIM:248200	Retinal dystrophy;Stargardt disease;Stargardt disease 1	germline;unknown	1	94030991	TATGGGCAGCAGTACACCTTCTTCAGGTGCGCGGACTCGGGGTCACCATTCTCCTCTGTGG
74315351	22104	NM_007262.4(PARK7):c.78G>A (p.Met26Ile)	PARK7	Jul 01, 2012	MedGen:C1853445,OMIM:606324	Parkinson disease 7	germline	1	7962863	AATGGAGACGGTCATCCCTGTAGATGTCATGAGGCGAGCTGGGGTAAGTCCCACATCGATT
28931568	33005	NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)	SERPINA1	Jul 15, 2016	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007;na	Alpha-1-antitrypsin deficiency;PI M(MINERAL SPRINGS)	germline	14	94382966	TCGCTACAGCCTTTGCAATGCTCTCCCTGGGGACCAAGGCTGACACTCACGATGAAATCCT
-1	29309	NM_000248.3(MITF):c.33+1G>A	MITF	Nov 01, 1994	MedGen:C1860339,OMIM:193510	Waardenburg syndrome type 2A	germline	3	69936756	CTGGAAATGCTAGAATATAATCACTATCAGGTGAGATTTATTCTGACTCATATTCAGTCTT
886041355	264290	NM_001453.2(FOXC1):c.456G>A (p.Trp152Ter)	FOXC1	Sep 16, 2016	MedGen:CN517202	not provided	germline	6	1610901	CGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTC
281865550	49675	NM_018081.2(WRAP53):c.1303G>A (p.Gly435Arg)	WRAP53	May 10, 2012	MedGen:C3151442,OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	germline	17	7703027	GGGCAGTTCCTAGTGAGTGGCAGCACGAGCGGGGCTGTCTCTGTGTGGGACACGGACGGGC
-1	442594	NM_000302.3(PLOD1):c.1097+1G>A	PLOD1	Jul 06, 2017	MedGen:CN517202	not provided	germline	1	11960768	GGCGAATGCAGATGCCAGGAACATGGGCGCGTGAGTTGTGGGCCACAGTACTCTCCACTGA
886043990	272967	NM_000642.2(AGL):c.2158-1G>A	AGL	Jun 10, 2016	MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease type III	germline	1	99881540	AGCTAATCTAGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGAAGACATA
1057516115	353987	NM_172107.3(KCNQ2):c.1247+1G>A	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63424176	GAAGGACCCCCCGCCGGAGCCGTCTCCAAGGTCAGTGCCCCCTGCTGCTACCCTGGTGTCT
121908020	18805	NM_000375.2(UROS):c.673G>A (p.Gly225Ser)	UROS	Sep 12, 2013	MedGen:C0162530,OMIM:263700,Orphanet:ORPHA79277	Congenital erythropoietic porphyria	germline	10	125788993	TCTCTTCTGTCTTTATAGTTTGCAGCCATCGGCCCCACTACGGCTCGCGCGCTGGCCGCCC
387906605	38589	NM_000094.3(COL7A1):c.4565G>A (p.Gly1522Glu)	COL7A1	Nov 01, 2005	MedGen:C1851573,OMIM:131705,Orphanet:ORPHA79411	Transient bullous dermolysis of the newborn	germline	3	48582512	TCCTGGGCTCACACTTTCTCTACATTCAGGGGCCACCAGGACCCACTGGCCGCCAAGGAGA
387907066	39905	NM_018344.5(SLC29A3):c.1088G>A (p.Arg363Gln)	SLC29A3	Apr 01, 2013	MedGen:C1864445,OMIM:602782,Orphanet:ORPHA168569	Histiocytosis-lymphadenopathy plus syndrome	germline	10	71362268	TCCTGTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGG
188286943	39152	NM_018206.5(VPS35):c.1858G>A (p.Asp620Asn)	VPS35	Apr 19, 2017	MedGen:C3280133,OMIM:614203	Parkinson disease 17	germline	16	46662452	GCATTTTCTCTGTATGAAGATGAAATCAGCGATTCCAAAGCACAGCTAGCTGCCATCACCT
137852360	25165	NM_000132.3(F8):c.6977G>A (p.Arg2326Gln)	F8	Jun 13, 1986	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154837676	TAGACCCACCGTTACTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGGTGCACCAGAT
121913563	29369	NM_005912.2(MC4R):c.523G>A (p.Ala175Thr)	MC4R	Mar 16, 2011	MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001	Obesity	germline	18	60371827	CGGGTTGGGATCATCATAAGTTGTATCTGGGCAGCTTGCACGGTTTCAGGCATTTTGTTCA
866061439	264153	NM_000094.3(COL7A1):c.6190G>A (p.Gly2064Arg)	COL7A1	Jun 16, 2016	MedGen:CN517202	not provided	germline	3	48575233	CACCCGCTATTTGCATTTCAGGGAGAACGGGGAGAGAAAGGAGAACGTGGAGAACAGGTGG
121908123	19504	NM_025216.2(WNT10A):c.27G>A (p.Trp9Ter)	WNT10A	Jul 01, 2009	MedGen:C0796093,OMIM:257980,Orphanet:ORPHA2721	Odontoonychodermal dysplasia	germline	2	218881022	CGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGG
1131690787	420429	NM_017780.3(CHD7):c.5405-13G>A	CHD7	May 11, 2017	MedGen:C0265354,OMIM:214800,Orphanet:ORPHA138,SNOMED CT:47535005	CHARGE association	not applicable	8	60850480	TTTGTTTCTGTGTGTTTTCTGTGCACGGATGGGCACGGCACAGGCTATGAGAAGTACAACT
587779255	419530	NM_000179.2(MSH6):c.3172+1G>A	MSH6	Sep 25, 2017	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	2	47801156	AGTCTGCTGTAGAGTGTATCGCAGTGTTGGGTAAGACTTTGAACAAGCTTGTTCTCAGGCT
587784169	168242	NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln)	NSD1	Feb 27, 2017	MedGen:C0004903,OMIM:130650,Orphanet:ORPHA116,SNOMED CT:81780002;MedGen:CN035106,OMIM:117550;MedGen:CN517202	Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided	germline	5	177282523	AGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCAC
398123295	98665	NM_000280.4(PAX6):c.357+1G>A	PAX6	Apr 19, 2016	MedGen:C0344542,OMIM:106210;MedGen:CN517202	Aniridia 1;not provided	germline	11	31801560	GGGGTCTGTACCAACGATAACATACCAAGCGTAAGTTCATTGAGAACATCTGCCCTCCCTG
267607142	18809	NM_017636.3(TRPM4):c.19G>A (p.Glu7Lys)	TRPM4	Sep 01, 2009	Gene:8184,MedGen:C1970298,OMIM:604559	Progressive familial heart block type 1B	germline	19	49157885	GGCCGCGGCAGCATGGTGGTGCCGGAGAAGGAGCAGGTGAGCGCCGGACCAGGGTCTGCGG
72554349	103055	NM_000531.5(OTC):c.299G>A (p.Gly100Asp)	OTC	-	MedGen:CN517202	not provided	unknown	X	38381342	AATGATTTTTTTCTTTTTTTTTTATTGTAGGCTTTGCACTTCTGGGAGGACATCCTTGTTT
-1	437718	NM_000475.4(NR0B1):c.1169-1G>A	NR0B1	Sep 20, 2017	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30304824	TTTTATAACAAAGAGATTTTTCTCCCTCCAGACGTGCCGGGCCTGCAGTGCGTGAAGTACA
80359841	201176	NM_006516.2(SLC2A1):c.18+1G>A	SLC2A1	Sep 18, 2014	MedGen:CN517202	not provided	germline	1	42958633	CGCAGCGCTGCCATGGAGCCCAGCAGCAAGGTGAGTCGCGCGCCCGCGGGCCCTCCCGCCA
199473153	78618	NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg)	SCN5A	Sep 25, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN230736;MedGen:CN517202	Brugada syndrome;Cardiovascular phenotype;not provided	germline	3	38597737	ACAAGTGAATTCGAGGAGATGCTGCAGGTCGGAAACCTGGTAAGGGCTGCCTGCAGCTGGC
796065346	200767	NM_019074.3(DLL4):c.1169G>A (p.Cys390Tyr)	DLL4	Aug 19, 2015	MedGen:C0265268,Orphanet:ORPHA974,SNOMED CT:34748004;MedGen:C4225271,OMIM:616589	Adams-Oliver syndrome;Adams-Oliver syndrome 6	germline;unknown	15	40935046	GCAACCAGGGGGCCAACTATGCTTGTGAATGTCCCCCCAACTTCACCGGCTCCAACTGCGA
80338801	33888	NM_000070.2(CAPN3):c.946-1G>A	CAPN3	Jul 05, 2012	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	not provided	15	42392638	CCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGA
606231221	31051	NM_002087.3(GRN):c.835+1G>A	GRN	Aug 24, 2006	MedGen:C1843792,OMIM:607485	Frontotemporal dementia, ubiquitin-positive	germline	17	44351164	ACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTG
104886136	35776	NM_000495.4(COL4A5):c.1681G>A (p.Gly561Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108597470	CTCACTTTTCCAGGAATGAAGGGTGACAAAGGAGAGTTGGGTTCCCCTGGAGCTCCAGGGC
397514658	48718	NM_024531.4(SLC52A2):c.1255G>A (p.Gly419Ser)	SLC52A2	Mar 17, 2015	MedGen:C3553538,OMIM:614707	Brown-Vialetto-Van Laere syndrome 2	germline	8	144360932	GGCGTGGCCATCCAGGTGGGCTCTCTGCTCGGCGCTGTTGCTATGTTCCCCCCGACCAGCA
137852702	23947	NM_000310.3(PPT1):c.134G>A (p.Cys45Tyr)	PPT1	Jan 30, 2007	MedGen:C1850451,OMIM:256730,Orphanet:ORPHA228329	Ceroid lipofuscinosis neuronal 1	germline	1	40092498	TCATTGTGTTTTGTTGGCTAGGAGACAGCTGTTGCAATCCCTTAAGCATGGGTGCTATTAA
113994064	20989	NM_003907.2(EIF2B5):c.944G>A (p.Arg315His)	EIF2B5	Jul 24, 2007	MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854	Leukoencephalopathy with vanishing white matter	germline	3	184140518	TGTACTCAGCTGTCTGTGCTGACGTCATCCGCCGATGGGTCTACCCTCTCACCCCAGAGGC
863223567	209768	NM_001999.3(FBN2):c.3593G>A (p.Cys1198Tyr)	FBN2	May 24, 2014	MedGen:CN517202	not provided	germline	5	128338002	GACACGAGCTGTCACCATCCCGTGAGGACTGTGTGGGTGAGTTTATCTCCTCAGCACATAA
794727715	194893	NM_001849.3(COL6A2):c.801+1G>A	COL6A2	Jan 13, 2015	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	46114074	TCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGC
281860281	46939	NM_005211.3(CSF1R):c.2345G>A (p.Arg782His)	CSF1R	Mar 12, 2013	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150056316	CTCAGTGCATCCACCGGGACGTGGCAGCGCGTAACGTGCTGTTGACCAATGGTCATGTGGC
886041259	264041	NM_021007.2(SCN2A):c.4777G>A (p.Gly1593Arg)	SCN2A	Aug 29, 2016	MedGen:CN517202	not provided	germline	2	165386971	ATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCA
587779197	96726	NM_000251.2(MSH2):c.942G>A (p.Gln314=)	MSH2	Sep 05, 2013	MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Lynch syndrome	germline	2	47414418	TGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAG
878855078	242970	NM_023036.4(DNAI2):c.1420G>A (p.Gly474Arg)	DNAI2	Nov 11, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	74310089	GGGTGTCTCATCGCCTGCGGCTCCCAGCTGGGGACAACCACCCTGCTGGAGGTCTCGCCTG
587784115	168180	NM_022455.4(NSD1):c.4378+1G>A	NSD1	Feb 08, 2013	MedGen:CN035106,OMIM:117550	Sotos syndrome 1	germline	5	177244271	CCACATCTTATTCAAAAGATTTTGGTGGAGGTGAGTATTTTTGAGATTTAAAAAACGTAAT
104893715	23333	NM_033337.2(CAV3):c.253G>A (p.Ala85Thr)	CAV3	Apr 15, 2012	MedGen:C2678485,OMIM:611818;MedGen:CN517202	Long QT syndrome 9;not provided	de novo;germline	3	8745664	CTGTTGTCCACGCTGCTGGGCGTCCCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCA
199476088	23274	NM_004329.2(BMPR1A):c.1127G>A (p.Cys376Tyr)	BMPR1A	Oct 01, 2001	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	germline	10	86919430	AAAACATCCTCATCAAGAAAAATGGGAGTTGCTGCATTGCTGACCTGGGCCTTGCTGTTAA
121908722	17023	NM_000022.3(ADA):c.467G>A (p.Arg156His)	ADA	Jul 01, 1996	MedGen:C1863237;MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277	SCID due to ADA deficiency, delayed onset;Severe combined immunodeficiency due to ADA deficiency	unknown	20	44625580	TCAAGGCCCGGTCCATCCTGTGCTGCATGCGCCACCAGCCCAGTGAGTAGGATCACCGCCC
879253882	245163	NM_001972.3(ELANE):c.597+5G>A	ELANE	Mar 24, 2017	MedGen:C0221023,OMIM:162800,Orphanet:ORPHA2686,SNOMED CT:191347008;MedGen:C1859966,OMIM:202700;MedGen:CN517202	Cyclical neutropenia;Severe congenital neutropenia autosomal dominant;not provided	germline	19	855799	GGGGCCGGCAGGCCGGCGTCTGTTTCGTACGTGCCCTGGGTGTCCCTCTGCTCCCCACCCG
267606785	27812	NM_002354.2(EPCAM):c.197G>A (p.Cys66Tyr)	EPCAM	Jul 01, 2013	MedGen:C2750737,OMIM:613217,Orphanet:ORPHA92050	Diarrhea 5, with tufting enteropathy, congenital	germline	2	47373820	TTAAGGTTTCTTTTTCAGTGGCTGCCAAATGTTTGGTGATGAAGGCAGAAATGAATGGCTC
11558261	33025	NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser)	SERPINA1	Jul 15, 2016	MedGen:C0221757,OMIM:613490,Orphanet:ORPHA60,SNOMED CT:30188007;na;na;na;na	Alpha-1-antitrypsin deficiency;PI NULL(DEVON);PI NULL(NEWPORT);PI Q0(DEVON);PI Q0(NEWPORT)	germline	14	94382823	CAGCCAGACAGCCAGCTCCAGCTGACCACCGGCAATGGCCTGTTCCTCAGCGAGGGCCTGA
-1	443215	NM_004321.7(KIF1A):c.595G>A (p.Gly199Arg)	KIF1A	Oct 04, 2017	MedGen:CN517202	not provided	germline	2	240786348	TACAATGACATCCAGGACCTCATGGACTCAGGGAACAAGGCCAGGTGGGTGGAGGGACTCA
128620185	26387	NM_000061.2(BTK):c.83G>A (p.Arg28His)	BTK	Jan 25, 2017	MedGen:C1832241,OMIM:601495,Orphanet:ORPHA33110;MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007;MedGen:CN517202	Agammaglobulinemia, non-Bruton type;X-linked agammaglobulinemia;not provided	germline	X	101375202	AGAAAACATCACCTCTAAACTTCAAGAAGCGCCTGTTTCTCTTGACCGTGCACAAACTCTC
755348996	397086	NM_000118.3(ENG):c.219G>A (p.Thr73=)	ENG	May 05, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004;MedGen:CN169374	Osler hemorrhagic telangiectasia syndrome;not specified	germline	9	127843094	AGTCCATGTCCTCTTCCTGGAGTTCCCAACGGTGAGTGTCCCATGGCAGGGTCGGGTGGGG
121918280	17513	NM_000401.3(EXT2):c.778G>A (p.Asp260Asn)	EXT2	May 01, 2009	MedGen:C1851413,OMIM:133701	Multiple exostoses type 2	germline	11	44114237	TTTTCTACGTGGACTTACCGGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGT
112240298	198767	NM_001256850.1(TTN):c.94066+1G>A	TTN	Jan 26, 2015	EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Primary dilated cardiomyopathy;not provided	germline	2	178538945	CTGAACCAGTTGTTTGCAAAGATCCATTTGGTAAGGAATTCAGAAGAAGGGGTTAAATTAA
1131690992	420471	NM_000264.4(PTCH1):c.2190G>A (p.Trp730Ter)	PTCH1	Apr 18, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	9	95468811	CCACTGCCTCGAGCCCCCCTGTACGAAGTGGACACTCTCATCTTTTGCTGAGAAGCACTAT
397515548	76583	NM_004456.4(EZH2):c.2233G>A (p.Glu745Lys)	EZH2	Jul 18, 2013	MedGen:C0265210,OMIM:277590,SNOMED CT:63119004	Weaver syndrome	not provided	7	148807669	CAGGCTGATGCCCTGAAGTATGTCGGCATCGAAAGAGAAATGGAAATCCCTTGACATCTGC
199474703	40437	NM_000258.2(MYL3):c.281G>A (p.Arg94His)	MYL3	Aug 01, 2015	MedGen:C1837471,OMIM:608751;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 8;Primary familial hypertrophic cardiomyopathy;not provided	germline	3	46860702	GCCAGAACCCCACACAGGCAGAAGTGCTCCGTGTCCTGGGGAAGCCAAGACAGGAAGGTAG
886037716	248830	NM_177438.2(DICER1):c.4517G>A (p.W1506*)	DICER1	Nov 10, 2014	MedGen:CN072455,OMIM:601200;MedGen:C0027672,SNOMED CT:699346009	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	germline	14	95096403	CAGATTTTGAGGATTTTGACTACAGCTCTTGGGATGCAATGTGCTATCTGGATCCTAGCAA
377294947	186794	NM_000136.2(FANCC):c.65G>A (p.Trp22Ter)	FANCC	Aug 14, 2017	MedGen:C3468041,OMIM:227645	Fanconi anemia, complementation group C	germline;unknown	9	95249227	ATCAGTTTTGGATGCAGAAGCTTTCTGTATGGGATCAGGCTTCCACTTTGGAAACCCAGCA
786205909	190115	NM_017649.4(CNNM2):c.364G>A (p.Glu122Lys)	CNNM2	Oct 12, 2017	MedGen:C4225333,OMIM:616418	Hypomagnesemia, seizures, and mental retardation	germline;inherited	10	102918844	AACGAGACGTGGTCCCGCATCGCCTTCACCGAGCACGAGCGGCGGCGCCACAGCCCGGGGG
121917786	27077	NM_001018115.2(FANCD2):c.3707G>A (p.Arg1236His)	FANCD2	Feb 01, 2001	MedGen:C3160738,OMIM:227646	Fanconi anemia, complementation group D2	germline	3	10090315	CTTCTAGGCATACTTTTGTTGTTTTCTTCCGTGTGATGATGGCTGAACTAGAGAAGACGGT
1060501102	392453	NM_014585.5(SLC40A1):c.1469G>A (p.Gly490Asp)	SLC40A1	Mar 04, 2017	MedGen:C1853733,OMIM:606069,Orphanet:ORPHA139491	Hemochromatosis type 4	germline	2	189562125	TGCAAGAAAATGTAATTGAATCTGAAAGAGGCATTATAAATGGTGTACAGAACTCCATGAA
128624213	26331	NM_000033.3(ABCD1):c.871G>A (p.Glu291Lys)	ABCD1	Nov 01, 1993	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153726137	TACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGG
121908230	23552	NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln)	CACNA1A	Dec 30, 2016	MedGen:C1832894,OMIM:141500;MedGen:CN517202	Familial hemiplegic migraine type 1;not provided	germline	19	13262789	GAAAAGACATCAACACGATTAAATCCCTCCGAGTCCTCCGGGTGCTACGACCTCTTAAAAC
199474717	51282	NM_152263.3(TPM3):c.721G>A (p.Glu241Lys)	TPM3	Apr 11, 2013	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:CN517202	Congenital myopathy with fiber type disproportion;not provided	not provided	1	154170454	TCATATTTCCCCCAGGCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGG
752298579	205385	NM_152906.6(TANGO2):c.460G>A (p.Gly154Arg)	TANGO2	Apr 13, 2017	MedGen:CN232560;MedGen:C0003811,OMIM:115000;MedGen:CN232559;MedGen:C0025362,SNOMED CT:228156007,SNOMED CT:91138005;MedGen:CN232558;MedGen:C4225171,OMIM:616878	Acute rhabdomyolysis;Cardiac arrhythmia;Episodic flaccid weakness;Intellectual functioning disability;Seizures;TANGO2-Related Metabolic Encephalopathy and Arrhythmias	germline;maternal;paternal	22	20061538	GCCCGCTGATTGCTCCTCACAGGCACCTACGGGCTGAGCAACGCGCTGCTGGAGACTCCCT
863225012	213849	NM_004006.2(DMD):c.8357G>A (p.Trp2786Ter)	DMD	Apr 29, 2013	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	31507314	AAAGACGTTTGGATAACATGAACTTCAAGTGGAGTGAACTTCGGAAAAAGTCTCTCAACAT
587779555	107005	NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188989442	CTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAAAGATGTAAGTTTTTAAAACTTAAATAA
104886110	35733	NM_000495.4(COL4A5):c.1268G>A (p.Gly423Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108591160	CACCTGGAATTTCCATTCCTGGACCTCCTGGACTTGACGGACAGCCTGGGGCTCCTGGGCT
147656110	260409	NM_021815.4(SLC5A7):c.1082G>A (p.Arg361Gln)	SLC5A7	Oct 07, 2016	MedGen:C4310694,OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	germline	2	108008651	CCATCTTGTCAGCAAGTTCCATGTTTGCACGGAACATCTACCAGCTTTCCTTCAGACAAAA
137853890	16298	NM_022356.3(P3H1):c.2055+18G>A	P3H1	Aug 07, 2017	MedGen:C1970458,OMIM:610915	Osteogenesis imperfecta type 8	germline	1	42747254	ACACAGCGAGCGGGTGAGAGCAGCTCGAGCGGGTGAGAGCAGCTGGTGCTGTGGTGACCCG
-1	482162	NM_022068.3(PIEZO2):c.5083-1G>A	PIEZO2	Dec 07, 2017	MedGen:CN517202	not provided	germline	18	10714931	AAGAACTGTGGCAATGTCTCATTCTCCTCAGGGCAATGTTCCAACTCGGGAGAGCATCCAC
786200914	26599	NM_001449.4(FHL1):c.688+1G>A	FHL1	Aug 18, 2009	MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461	Myopathy with postural muscle atrophy, X-linked	germline	X	136208642	AGTGTGCTGGATGCAAGAACCCCATCACTGGTAGGCTAAAGAGTCCTTGCTAAGTCTGCCA
143353451	179937	NM_001128425.1(MUTYH):c.545G>A (p.Arg182His)	MUTYH	Jan 12, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C3272841;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;MUTYH-associated polyposis;MYH-associated polyposis;not provided;not specified	germline	1	45332794	AACTCTGGGCTGGCCTGGGCTACTATTCTCGTGGCCGGCGGCTGCAGGAGGGAGCTCGGAA
104893930	24214	NM_000344.3(SMN1):c.88G>A (p.Asp30Asn)	SMN1	Jan 01, 2005	MedGen:C0393538,OMIM:253550,Orphanet:ORPHA83418,SNOMED CT:128212001	Spinal muscular atrophy, type II	germline	5	70938845	GTTTTTATTTCTTACCCTTTCCAGAGCGATGATTCTGACATTTGGGATGATACAGCACTGA
730880296	178842	NM_000732.4(CD3D):c.274+5G>A	CD3D	Nov 27, 2014	MedGen:C3810147,OMIM:615617	Immunodeficiency 19	germline;inherited	11	118340370	ATCTACCGTGCAAGTTCATTATCGAAGTACGTGCTTCCTGAACCCTTTGGGTTGGAATGGA
119475041	19408	NM_014762.3(DHCR24):c.571G>A (p.Glu191Lys)	DHCR24	Mar 04, 2016	MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107	Desmosterolosis	germline	1	54875134	GGCCTGTTCCAACACATCTGCACTGCTTACGAGCTGGTCCTGGCTGATGGCAGCTTTGTGC
28940308	17192	NM_017929.5(PEX26):c.265G>A (p.Gly89Arg)	PEX26	Aug 01, 2003	MedGen:C3539168,OMIM:614872	Peroxisome biogenesis disorder 7A	germline	22	18079908	TTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGT
-1	442408	NM_000444.5(PHEX):c.1899+1G>A	PHEX	Jan 17, 2017	MedGen:CN517202	not provided	germline	X	22221744	AACTATTATTGGAAGAAAGCTGGCTTAAATGTGAGTACAACTGTGGCTAAGGGGGGCACCT
121964846	27508	NM_001159287.1(TPI1):c.478G>A (p.Gly160Arg)	TPI1	Mar 01, 1992	MedGen:C4016412	Triosephosphate isomerase manchester	germline	12	6869300	AAAGTGGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAAGCTAG
121918526	25716	NM_031407.6(HUWE1):c.8942G>A (p.Arg2981His)	HUWE1	Jan 30, 2017	MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328;MedGen:CN517202	Mental retardation, X-linked, syndromic, turner type;not provided	germline	X	53551420	CTTTTCTGGCTGCCCTGCCTGATGACATCCGTCGGGAAGTTCTACAGAACCAGCTAGGCAT
863225143	214253	NM_001134831.1(AHI1):c.1260G>A (p.Trp420Ter)	AHI1	Feb 23, 2015	MedGen:C1837713,OMIM:608629	Joubert syndrome 3	unknown	6	135455818	TAAACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTT
-1	425430	NM_001165963.2(SCN1A):c.1151G>A (p.Trp384Ter)	SCN1A	May 23, 2017	MedGen:CN517202	not provided	germline	2	166047646	CCTTGTTTCGACTAATGACTCAGGACTTCTGGGAAAATCTTTATCAACTGGTGAGAACTAA
72653131	32370	NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser)	COL1A1	Mar 01, 1996	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta type III;Osteogenesis imperfecta with normal sclerae, dominant form	germline;unknown	17	50190045	CCTGGTGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGAC
137852564	24845	NM_000044.4(AR):c.2599G>A (p.Val867Met)	AR	Feb 27, 2017	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67722976	TTCTACCAGCTCACCAAGCTCCTGGACTCCGTGCAGCCTGTAAGCAAACGATGGAGGGTGC
267606772	22326	NM_001190716.1(DNM2):c.1072G>A (p.Gly358Arg)	DNM2	Apr 12, 2017	MedGen:C2751364;MedGen:C1847902,OMIM:606482;MedGen:CN517202	Charcot-Marie-Tooth disease, type 2M;DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not provided	germline;paternal	19	10793799	GGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTTCCACG
121917827	32020	NM_021954.3(GJA3):c.227G>A (p.Arg76His)	GJA3	Aug 01, 2004	MedGen:C1866078,OMIM:601885	Zonular pulverulent cataract 3	germline	13	20143062	ACGACAGGGCCTTCCCCATCTCCCACATCCGCTTCTGGGCGCTGCAGATCATCTTCGTGTC
587779596	107056	NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188989406	TTTTATTTCCTTATTTTCAGGGCCCTCCAGGACCTCCTGGTGCTATAGGTCCATCTGGTCC
140402727	236885	NM_018946.3(NANS):c.452G>A (p.Arg151His)	NANS	Jun 20, 2017	MedGen:C1864872,OMIM:610442,Orphanet:ORPHA168454	Spondyloepimetaphyseal dysplasia Genevieve type	germline	9	98078196	TGATGGTGTTGGTGCTGGATTACTCAGGTCGCCCAATGGTGATCTCCAGTGGGATGCAGTC
121434308	16867	NM_005767.5(LPAR6):c.436G>A (p.Gly146Arg)	LPAR6	Jun 02, 2015	MedGen:C1848435,OMIM:278150	Hypotrichosis 8	germline	13	48411988	GTTTGCACTGGCGTGTGGTTAACTGTGATCGGAGGAAGTGCACCCGCCGTTTTTGTTCAGT
61751263	104995	NM_000350.2(ABCA4):c.1938-1G>A	ABCA4	Jan 01, 2015	Human Phenotype Ontology:HP:0007754,MedGen:C0730292;MedGen:C1866422,OMIM:601718;MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Macular dystrophy;Retinitis pigmentosa 19;Stargardt disease 1;not provided	germline;unknown	1	94060760	CTACTATTCTGCTTCTCTCCTTTTGCTTTAGTTTCATGATCATCCTGAACCGCTGTTTCCC
751454741	424254	NM_000243.2(MEFV):c.332G>A (p.Gly111Glu)	MEFV	Jun 25, 2017	MedGen:C0004943,OMIM:109650,Orphanet:ORPHA117,SNOMED CT:310701003	Behcet's syndrome	germline	16	3254736	CAGATGATTCCGCAGCGTCCAGCTCCCTGGGGGAGAACAAGCCCAGGAGCCTGAAGACTCC
755799430	223645	NM_182894.2(VSX2):c.667G>A (p.Gly223Arg)	VSX2	Jan 01, 2013	MedGen:CN235161	Anophthalmia - microphthalmia	inherited	14	74259689	AGCAGTGTCATGGCGGAGTATGGGCTCTACGGGGCCATGGTGCGGCACTCCATCCCCCTGC
104894076	19231	NM_018972.2(GDAP1):c.482G>A (p.Arg161His)	GDAP1	Jan 01, 2002	MedGen:C1859198,OMIM:214400,Orphanet:ORPHA99948	Charcot-Marie-Tooth disease, type 4A	germline	8	74360308	TGATCCCGGCTTATGCAACTACAAGGATTCGTAGTATGTAAACATTTTAAAGACCTGGAAT
606231465	171277	NM_001845.5(COL4A1):c.2194-1G>A	COL4A1	Jan 15, 2013	MedGen:C1843512,OMIM:607595	Brain small vessel disease with hemorrhage	germline	13	110179422	ATTTGCTTCTCTGTGCTTTGGGGATTTTCAGGGAGAGCCTGGAGTTGGTCTACCGGGACTC
1057518972	360897	NM_014112.4(TRPS1):c.2794G>A (p.Ala932Thr)	TRPS1	Jan 24, 2017	Human Phenotype Ontology:HP:0002229,MedGen:C0002171;Human Phenotype Ontology:HP:0001156,MedGen:CN001088;Human Phenotype Ontology:HP:0000447,MedGen:C1853482;Human Phenotype Ontology:HP:0003508,MedGen:C0878660;MedGen:C0432233,OMIM:190350,SNOMED CT:254091006	Alopecia areata;Brachydactyly syndrome;Pear-shaped nose;Proportionate short stature;Trichorhinophalangeal dysplasia type I	germline;unknown	8	115418359	AAGAATGCAAATGGCGGATATGTATGCAACGCGTGTGGCCTCTACCAGAAGCTTCACTCGG
398123577	99527	NM_001143979.1(NDE1):c.704-1G>A	NDE1	Aug 13, 2013	MedGen:CN517202	not provided	germline	16	15694164	GAGTTACATGCTCTTCCCTTTGCACACCCAGGCCTGGACGACTCCACCGGGGGGACCCCCC
121964981	27013	NM_000481.3(AMT):c.806G>A (p.Gly269Asp)	AMT	Jun 01, 1994	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49419042	CAGCCAGGGACAGCCTGCGCCTGGAGGCAGGCCTCTGCCTGTATGGGAATGACATTGATGA
121912926	32267	NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser)	COL3A1	May 26, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188988099	TTCACATTCCAGGGCCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTT
786204837	172291	NM_003392.4(WNT5A):c.206G>A (p.Cys69Tyr)	WNT5A	Apr 24, 2015	MedGen:C0265205,OMIM:180700,SNOMED CT:76520005	Robinow syndrome	germline	3	55479499	AAGTATATATTATAGGAGCACAGCCTCTCTGCAGCCAACTGGCAGGACTTTCTCAAGGACA
104894176	28748	NM_001083116.2(PRF1):c.1122G>A (p.Trp374Ter)	PRF1	Jan 17, 2012	MedGen:C1863727,OMIM:603553;Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004	Hemophagocytic lymphohistiocytosis, familial, 2;Malignant lymphoma, non-Hodgkin	germline	10	70598599	GAGTCAGTACCTGACGGACAGGGCTCGCTGGAGGGACTGCAGCCGGCCGTGCCCACCAGGG
121918428	29058	NM_006179.4(NTF4):c.617G>A (p.Arg206Gln)	NTF4	Oct 01, 2009	MedGen:C2751294,OMIM:613100	Glaucoma 1, open angle, O	germline	19	49061381	ACACTGCCTGCGTCTGCACACTCCTCAGCCGGACTGGCCGGGCCTGAGACCCATGCCCAGG
104894676	21874	NM_016941.3(DLL3):c.1511G>A (p.Gly504Asp)	DLL3	Jul 01, 2004	MedGen:CN032975,OMIM:277300	Spondylocostal dysostosis 1, autosomal recessive	germline	19	39507456	CTCCGGCTCTGGGACTGCTCGTGGCCGCGGGCGTGGCCGGCGCTGCGCTCTTGCTGGTCCA
869025331	223759	NM_033380.2(COL4A5):c.2395+1G>A	COL4A5	Feb 02, 2016	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	inherited	X	108606893	CTGGCTTAGATGGGCTCCCTGGACCAAAAGGTATGGAGGCTGTCACTGCATCTCAACTTGC
121965053	15209	NM_000274.3(OAT):c.1058G>A (p.Gly353Asp)	OAT	Jun 01, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124400941	AAAACCTTGCTGAAAATGCAGACAAATTGGGCATTATCTTGAGAAATGAACTCATGAAGCT
864321688	216931	NM_020401.3(NUP107):c.969+1G>A	NUP107	Oct 01, 2015	MedGen:C4225228,OMIM:616730	Nephrotic syndrome, type 11	germline	12	68713809	GGAAGTGTTCGTCCGCTTGTCACTGAATTGGTAAATGTTCTTTGAAATGAAAGTTGCCTTC
45517371	58485	NM_000548.4(TSC2):c.4829G>A (p.Trp1610Ter)	TSC2	Oct 13, 2016	MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis syndrome;not provided	germline	16	2086359	GTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTG
201278558	259742	NM_003038.4(SLC1A4):c.766G>A (p.Glu256Lys)	SLC1A4	Jun 28, 2017	MedGen:C4225254,OMIM:616657,Orphanet:ORPHA447997;MedGen:CN517202	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly;not provided	germline;paternal	2	65010729	GACCTCATCCGTTTCTTCAATTCCCTCAACGAGGCGACGATGGTGCTGGTGTCCTGGATTA
121434461	22682	NM_000935.2(PLOD2):c.1793G>A (p.Arg598His)	PLOD2	Dec 01, 2004	MedGen:C1836602,OMIM:609220	Bruck syndrome 2	germline	3	146071416	TATGTCATTAATGTTGTTTCTAGGATAGCCGTATATCTGGTGGTTATGAAAATGTCCCAAC
587776700	264553	NM_000256.3(MYBPC3):c.906-1G>A	MYBPC3	Jan 26, 2017	MedGen:CN517202	not provided	germline	11	47347030	CTCCATTATGGCTGCTGCTGCTGTGGCCCAGAGAGTAAGAATCGGGGTCTGGGTGTTTGGG
869320660	227109	NM_000206.2(IL2RG):c.677G>A (p.Arg226His)	IL2RG	Jun 19, 2017	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006;MedGen:CN517202	X-linked severe combined immunodeficiency;not provided	germline	X	71109308	AGAAACGCTACACGTTTCGTGTTCGGAGCCGCTTTAACCCACTCTGTGGAAGTGCTCAGCA
1060502306	404054	NM_002294.2(LAMP2):c.962G>A (p.Trp321Ter)	LAMP2	Apr 16, 2016	MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED CT:419097006	Danon disease	germline	X	120441861	TCAGCATTGCAAATAACAATCTCAGCTACTGGGATGCCCCCCTGGGAAGTTCTTATATGTG
120074141	17872	NM_000019.3(ACAT1):c.547G>A (p.Gly183Arg)	ACAT1	Feb 01, 1992	MedGen:C1536500,OMIM:203750,Orphanet:ORPHA134,SNOMED CT:124258007	Deficiency of acetyl-CoA acetyltransferase	germline	11	108139009	GTAAAGCTTGAAGATTTGATTGTAAAAGACGGGCTAACTGATGTCTACAATAAAATTCATA
199473001	78297	NM_000238.3(KCNH2):c.2458G>A (p.Gly820Arg)	KCNH2	Mar 19, 2015	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN517202	Congenital long QT syndrome;not provided	germline	7	150948990	AACCTGTATGCAAGGCCTGGCAAGTCGAACGGGGATGTGCGGGCCCTCACCTACTGTGACC
267607093	33444	NM_024592.4(SRD5A3):c.320G>A (p.Trp107Ter)	SRD5A3	Apr 11, 2016	MedGen:C3150191,OMIM:612379,Orphanet:ORPHA324737	Congenital disorder of glycosylation type 1Q	germline;inherited	4	55359444	CTCTGTTCCTGGGAGCACCTTTTCCAAGCTGGCTTCATGGTTTGCTCAGAATTCTCGGGGC
121913038	31699	NM_001113755.2(TYMP):c.457G>A (p.Gly153Ser)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50528571	ATCAGCGGACGTGGTCTGGGGCACACAGGAGGCACCTTGGATAAGCTGGAGTCTATTCCTG
397508762	480433	NM_000492.3(CFTR):c.57G>A (p.Trp19Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117504256	TATCTGTTCCTCCTCTCTTTATTTTAGCTGGACCAGACCAATTTTGAGGAAAGGATACAGA
724159830	17154	NM_003477.2(PDHX):c.1024-1G>A	PDHX	Feb 01, 2002	MedGen:C1855553,OMIM:245349,Orphanet:ORPHA255182	Pyruvate dehydrogenase E3-binding protein deficiency	germline	11	34984569	TTTAGTAACATTTTTCTTTTTCTATTTCTAGCAAATGCCAGATGTTAATGTAAGCTGGGAT
121912482	29582	NM_000228.2(LAMB3):c.628G>A (p.Glu210Lys)	LAMB3	May 01, 2007	MedGen:C0268374,OMIM:226650,Orphanet:ORPHA89840,SNOMED CT:33662006	Adult junctional epidermolysis bullosa	unknown	1	209633070	ATTCCAGCAACTCAAAGTCAAAAAATTCAAGGTCAGTGTGGTTACTTCTCTTGTCCATGGA
387907340	51106	NM_021629.3(GNB4):c.158G>A (p.Gly53Asp)	GNB4	Apr 22, 2013	MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670	Charcot-Marie-Tooth disease, dominant intermediate F	germline	3	179419444	TACAAATGCGAACAAGACGTACACTGAGGGGCCACCTAGCTAAAATCTATGCTATGCATTG
267608463	165848	NM_004992.3(MECP2):c.377+1G>A	MECP2	Dec 03, 2010	MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008;MedGen:CN517202	Rett syndrome;not provided	unknown	X	154032206	TGCTGGGAAGTATGATGTGTATTTGATCAAGTAAGTAAGAGCAACTCCTATCTCTACAGGG
587777094	102945	NM_052844.3(WDR34):c.1340G>A (p.Arg447Gln)	WDR34	Feb 10, 2014	MedGen:C3810200,OMIM:615633	Short-rib thoracic dysplasia 11 with or without polydactyly	germline	9	128634258	ATCTGTTTGCTGTGCGCTGGTCCCCAGTGCGGCCCTTGGTTTTTGCAGCTGCCTCTGGGAA
-1	439220	NM_015330.4(SPECC1L):c.3293G>A (p.Arg1098Gln)	SPECC1L;SPECC1L-ADORA2A	Aug 28, 2017	MedGen:CN517202	not provided	de novo	22	24414562	AGGACATTAATGAAATGGTACGGACTGAACGACCCGACTGGCAGAACGTGATGCTGTATGT
794726784	187747	NM_001165963.1(SCN1A):c.4223G>A (p.Trp1408Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	maternal	2	166002533	AACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGT
796052642	203765	NM_172107.3(KCNQ2):c.1009G>A (p.Ala337Thr)	KCNQ2	Aug 30, 2012	MedGen:CN517202	not provided	germline	20	63438639	AAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCC
147412276	178868	NM_173689.6(CRB2):c.3746G>A (p.Arg1249Gln)	CRB2	Jan 08, 2015	MedGen:C4015555,OMIM:616220	Focal segmental glomerulosclerosis 9	germline	9	123376950	TGGGCCTCCTTTCAGGGATCCTGGCAGCCCGAAAGCGCCGCCAGTCTGAGGGCACCTACAG
104894519	21096	NM_004862.3(LITAF):c.334G>A (p.Gly112Ser)	LITAF	Jun 26, 2017	MedGen:C0270913,OMIM:601098,Orphanet:ORPHA101083,SNOMED CT:4183003;MedGen:CN517202	Charcot-Marie-Tooth disease, type 1C;not provided	germline	16	11553576	ATGATCGTGAGTCAGCTGTCCTATAACGCCGGTGCTCTGACCTGGCTGTCCTGCGGGAGCC
398124530	102372	NM_144997.6(FLCN):c.1533G>A (p.Trp511Ter)	FLCN	Aug 08, 2017	MedGen:C0346010,OMIM:135150,Orphanet:ORPHA122,SNOMED CT:110985001;MedGen:CN517202	Multiple fibrofolliculomas;not provided	germline	17	17214990	CCAGTGCCTCGTCTGCCTCAAGGAGGAGTGGATGAAGTAAGCAACAGTGTGGGTGAGGCCC
587780347	134592	NM_000162.3(GCK):c.706G>A (p.Glu236Lys)	GCK	Jul 23, 2013	Human Phenotype Ontology:HP:0009800,MedGen:C0085207	Diabetes mellitus, gestational	germline	7	44147807	CCAGGCACGGGCTGCAATGCCTGCTACATGGAGGAGATGCAGAATGTGGAGCTGGTGGAGG
587783238	167659	NM_018136.4(ASPM):c.3830G>A (p.Trp1277Ter)	ASPM	Jan 24, 2014	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	germline	1	197121955	TAAGAGCTGCTCGACTCATACAAACAACATGGAGAAAATATAAACTAAAAACAGATCTCAA
121908121	19502	NM_025216.2(WNT10A):c.383G>A (p.Arg128Gln)	WNT10A	May 01, 2012	MedGen:C0796093,OMIM:257980,Orphanet:ORPHA2721;MedGen:C1835492,OMIM:150400;MedGen:CN517202	Odontoonychodermal dysplasia;Tooth agenesis, selective, 4;not provided	germline	2	218889990	TGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGC
201201443	265466	NM_000642.2(AGL):c.2681+1G>A	AGL	Feb 03, 2017	MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED CT:66937008	Glycogen storage disease type III	germline	1	99884704	AGATCCTATATTAAAAATTCCTTTTGCTTCGTAAGTATGCCTTGTTTGGTAGAGATTTGCC
72554644	209243	NM_000052.6(ATP7A):c.2179G>A (p.Gly727Arg)	ATP7A	Feb 08, 2013	MedGen:C0022716,OMIM:309400,Orphanet:ORPHA565,SNOMED CT:59178007	Menkes kinky-hair syndrome	germline	X	78012885	ATGATTATCATTCCTATATTGCAGTTTTTCGGAGGCTGGTACTTCTACATTCAGGCTTATA
121913007	31850	NM_001943.4(DSG2):c.918G>A (p.Trp306Ter)	DSG2	Oct 05, 2011	MedGen:C1857777,OMIM:610193;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy, type 10;not provided	germline	18	31524792	CGATGCAGATGAAATAGGTTCTGATAATTGGCTGGCAAATTTTACATTTGCATCAGGAAAT
121913150	29739	NM_000208.3(INSR):c.3572G>A (p.Arg1191Gln)	INSR	Jan 01, 1995	Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006	Diabetes mellitus type 2	germline	19	7120707	CCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTACG
397514635	48579	NM_001080463.1(DYNC2H1):c.7985G>A (p.Arg2662Gln)	DYNC2H1	Jun 01, 2017	MedGen:CN674505;MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	Short-rib polydactyly syndrome type III;Short-rib thoracic dysplasia 3 with or without polydactyly	germline;unknown	11	103199373	TATTAGCAGGACGCAGTGGTGTAGGTCGTCGGACCATCACTTCTTTAGTCAGTCACATGCA
80356664	33974	NM_000207.2(INS):c.94G>A (p.Gly32Ser)	INS;INS-IGF2	Apr 03, 2015	MedGen:C1852092,OMIM:125852;MedGen:C0158981,Orphanet:ORPHA224,SNOMED CT:49817004;MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Diabetes mellitus, insulin-dependent, 2;Neonatal diabetes mellitus;Permanent neonatal diabetes mellitus	germline	11	2160878	GCCGCAGCCTTTGTGAACCAACACCTGTGCGGCTCACACCTGGTGGAAGCTCTCTACCTAG
727503316	176477	NM_016239.3(MYO15A):c.7893+1G>A	MYO15A	May 21, 2013	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	17	18151952	ACCCACCTGGCAGCTGCACCTGGCACCCAGGTGAGGGGGGAAGGTGGGGCTGAGCCCAGGT
121918726	27532	NM_000359.2(TGM1):c.1175G>A (p.Gly392Asp)	TGM1	Apr 01, 2001	MedGen:C3536797,OMIM:242300	Autosomal recessive congenital ichthyosis 1	germline	14	24258658	TTCGCTCCTCCACAGTGCTGCGCTGCCTGGGTCTGGCCACCCGTACTGTCACCAACTTCAA
786202631	184919	NM_007294.3(BRCA1):c.4523G>A (p.Trp1508Ter)	BRCA1	Aug 02, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	germline	17	43074483	CTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCA
387907248	45605	NM_198253.2(TERT):c.508G>A (p.Val170Met)	TERT	May 26, 2011	MedGen:C3553617,OMIM:614742	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	germline	5	1294378	GTGCTGGTGGCTCCCAGCTGCGCCTACCAGGTGTGCGGGCCGCCGCTGTACCAGCTCGGCG
121908875	21488	NM_000369.2(TSHR):c.2015G>A (p.Cys672Tyr)	TSHR	Jul 01, 1994	MedGen:C1836706,OMIM:609152,Orphanet:ORPHA424	Hyperthyroidism, nonautoimmune	germline	14	81144073	TGCTGGTACTCTTCTATCCACTTAACTCCTGTGCCAATCCATTCCTCTATGCTATTTTCAC
104894792	26528	NM_006579.2(EBP):c.386G>A (p.Trp129Ter)	EBP	Oct 02, 2000	MedGen:C0282102,OMIM:302960,Orphanet:ORPHA35173	Chondrodysplasia punctata 2 X-linked dominant	germline	X	48527202	TGTGCATGGAAACCATCACAGCTTGCCTGTGGGGACCACTCAGCCTGTGGGTGGTGATCGC
-1	444953	NM_000834.4(GRIN2B):c.1328+1G>A	GRIN2B	Sep 06, 2016	MedGen:CN517202	not provided	germline	12	13616454	AGTCCCCTGCCAAAAACGCATAGTCACTGAGTATGGCATCCTCTCAATGACTTTGGGTGGC
121909296	23212	NM_000337.5(SGCD):c.89G>A (p.Trp30Ter)	SGCD	May 01, 1997	MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219	Limb-girdle muscular dystrophy, type 2F	germline	5	156344574	CACAGGTATACAAGGTGGGGATTTATGGCTGGCGGAAACGATGCCTGTATTTCTTTGTCCT
796053361	202301	NM_003165.3(STXBP1):c.875G>A (p.Arg292His)	STXBP1	Nov 09, 2017	MedGen:C2677326,OMIM:612164;MedGen:CN517202	Early infantile epileptic encephalopathy 4;not provided	de novo;germline	9	127668160	ACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTA
267607029	24295	NM_199037.4(SCN1B):c.537G>A (p.Trp179Ter)	SCN1B	Jun 01, 2008	EFO:EFO_0005137,MedGen:C2748542	Cardiac conduction defect, nonspecific	germline	19	35033828	CAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAG
104893719	23396	NM_000388.3(CASR):c.1657G>A (p.Gly553Arg)	CASR	Nov 01, 2007	MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007	Hypocalciuric hypercalcemia, familial, type 1	germline	3	122282161	AGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACCTGCTGCT
387907101	40047	NM_017813.4(IMPAD1):c.529G>A (p.Asp177Asn)	IMPAD1	May 13, 2011	MedGen:C3279757,OMIM:614078,Orphanet:ORPHA280586	Chondrodysplasia with joint dislocations, GPAPP type	germline	8	56980056	GAAAGTGTTACTGTCTGGATTGACCCACTTGATGCTACACAGGAATATACAGGTAATTTTT
1047420796	485882	NM_017646.5(TRIT1):c.968G>A (p.Arg323Gln)	TRIT1	Feb 19, 2018	MedGen:CN807948,OMIM:617873	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	germline	1	39847258	CTCTGAAACAAGTAACTAAGAGATATGCCCGGAAACAAAACCGATGGGTTAAAAACCGTTT
33930165	30165	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	HBB	Jun 27, 2017	na;na;MedGen:C0002895,OMIM:603903,Orphanet:ORPHA232,SNOMED CT:127040003;MedGen:C2720293;MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202;MedGen:CN169374	HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN C;Hb SS disease;Malaria, resistance to;beta Thalassemia;not provided;not specified	germline;unknown	11	5227003	CAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGG
377767357	36185	NM_005359.5(SMAD4):c.1193G>A (p.Trp398Ter)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51067072	AGTTGGAATGTAAAGGTGAAGGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTT
-1	481080	NM_001110556.1(FLNA):c.1065G>A (p.Lys355=)	FLNA	-	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	de novo	X	154366562	GTACGTCCCCGAGGTGACGGGGACTCATAAGGTGAGCCCTTGGCCAGGGGGGAGGCTTGTG
121918485	28352	NM_000506.4(F2):c.1274G>A (p.Arg425His)	F2	Aug 15, 2002	MedGen:C0272317,SNOMED CT:33297000	Hereditary factor II deficiency disease	germline	11	46728139	AGAACTTCACCGAGAATGACCTTCTGGTGCGCATTGGCAAGCACTCCCGCACCAGGTACAG
786205137	185681	NM_030813.5(CLPB):c.1233G>A (p.Met411Ile)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72302328	TTCCACACAGGGCTTCATCAGGCTGGACATGTCCGAGTTCCAGGAGCGACACGAGGTGAGT
118192216	34662	NM_172107.3(KCNQ2):c.998G>A (p.Arg333Gln)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200;MedGen:CN517202	Benign familial neonatal seizures 1;not provided	germline	20	63438650	AGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAG
28940588	17166	NM_005787.5(ALG3):c.353G>A (p.Gly118Asp)	ALG3	Dec 01, 1999	MedGen:C1832736,OMIM:601110,Orphanet:ORPHA79321	Congenital disorder of glycosylation type 1D	germline	3	184245559	TTATGGGGTTGTACTATGCCACCAGCCGAGGCACTGACATCCGCATGGCCCAGAACATCTT
869025273	222975	NM_177987.2(TUBB8):c.5G>A (p.Arg2Lys)	TUBB8	Mar 02, 2017	MedGen:C4225210,OMIM:616780	Oocyte maturation defect 2	germline	10	49234	CCTGCCGTCCTAATCCCGCCTTGGCCATGAGGGAGATCGTGCTCACGCAGATCGGGCAGTG
63749823	21619	NM_001171.5(ABCC6):c.3961G>A (p.Gly1321Ser)	ABCC6	May 10, 2002	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154953	GGGCTGCTGCGGCTCCAGGAGGCAGCTGAGGGTGGGATCTGGATCGACGGGGTCCCCATTG
1131691794	422077	NM_000548.4(TSC2):c.500G>A (p.Trp167Ter)	TSC2	May 17, 2017	MedGen:CN517202	not provided	germline	16	2055420	CTTCTCCCCCAGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCT
79389353	20821	NM_014270.4(SLC7A9):c.544G>A (p.Ala182Thr)	SLC7A9	Nov 08, 2017	Human Phenotype Ontology:HP:0003131,MedGen:C0010691,OMIM:220100,Orphanet:ORPHA214,SNOMED CT:85020001;MedGen:CN517202	Cystinuria;not provided	germline	19	32862521	CTGGGAAGCTACGTCCAGAACATCTTCACCGCGGCCAAGCTGGTGATCGTGGCCATCATCA
112738974	51780	NM_000256.3(MYBPC3):c.2308+1G>A	MYBPC3	Jan 26, 2017	MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47338519	ACCAGGTCAACCTCACAGTCAAGGTCATCGGTGAGGCCGGCCGGGGTCCAAGCTGGAGAAC
80359861	34085	NM_001017420.2(ESCO2):c.1131+1G>A	ESCO2	Oct 02, 2008	MedGen:C0392475,OMIM:268300,OMIM:269000,SNOMED CT:48718006	Roberts-SC phocomelia syndrome	not provided	8	27788003	AGTAAAAAAACAAAAGACCAGCTCATCATCGTGAGTAAATTCCAAACAAAGCTTCTCCTAT
773516672	244641	NM_000051.3(ATM):c.7449G>A (p.Trp2483Ter)	ATM	Mar 31, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	11	108330355	CTTATTAAGTGGAGAAGAACATGATATGTGGGTATTCCGACTTTGTTCCCTCTGGCTTGAA
104894359	27636	NM_004985.4(KRAS):c.178G>A (p.Gly60Ser)	KRAS	Oct 24, 2017	MedGen:C1860991,OMIM:609942;MedGen:CN517202	Noonan syndrome 3;not provided	germline	12	25227346	ACCTGTCTCTTGGATATTCTCGACACAGCAGGTCAAGAGGAGTACAGTGCAATGAGGGACC
749225304	263792	NM_005993.4(TBCD):c.1876G>A (p.Ala626Thr)	TBCD	Nov 16, 2016	MedGen:C4310671,OMIM:617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	germline	17	82906007	CACATGAGGCATGGGTCGATTCTCGCCTGCGCAGAAGTTGCTTACGCCTTGTACAAACTTG
121909682	31244	NM_000821.6(GGCX):c.1427G>A (p.Arg476His)	GGCX	Mar 01, 2007	MedGen:C1835813,OMIM:610842,Orphanet:ORPHA91135	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	germline	2	85552428	ACTTTGATATTTGGGTCTCCATCAATGACCGCTTCCAGCAGAGGTGGGCAAGGGGAGCAGA
587779424	106855	NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004144	AAGGGATCGCCTGGTGCCCAGGGCCCACCAGTAAGTAACTTCATTTTTTTAAATTGATTCT
863225085	214070	NM_000466.2(PEX1):c.3750G>A (p.Trp1250Ter)	PEX1	Oct 01, 2015	MedGen:C1856186,OMIM:234580,Orphanet:ORPHA3220	Deafness enamel hypoplasia nail defects	germline	7	92489310	CACAAGACCATCCATTAGTGAAGATGACTGGAAGAATTTTGCTGAGCTGTAAGTAACAGAT
1057518864	361037	NM_001243226.2(TCF4):c.806-1G>A	TCF4	Jun 02, 2015	Human Phenotype Ontology:HP:0000463,MedGen:C1840077;Human Phenotype Ontology:HP:0002307,MedGen:C0013132;Human Phenotype Ontology:HP:0000286,MedGen:C1303004;Human Phenotype Ontology:HP:0008872,MedGen:C2674608;Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0003196,MedGen:C1854114;Human Phenotype Ontology:HP:0000733,MedGen:C0038273	Anteverted nares;Drooling;Epicanthus;Feeding difficulties in infancy;Global developmental delay;Short nose;Stereotypy	unknown	18	55350409	GGGAGCTGAAAGCATCTTCATTTTCTTTCAGAGGTACAGACAAAGAAAGTTCGAAAAGTTC
-1	441958	NM_002087.3(GRN):c.599-1G>A	GRN	Mar 10, 2017	MedGen:CN517202	not provided	germline	17	44350690	TGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGG
988031901	359563	NM_000094.3(COL7A1):c.7485+5G>A	COL7A1	May 02, 2016	MedGen:CN517202	not provided	germline	3	48570129	GCCAGGAGGGACCCCGAGGACTCACGGTGGGTCCCGCTGGGGAAAGTGACAGTGCTGTGAC
132630307	26101	NM_000252.2(MTM1):c.469G>A (p.Glu157Lys)	MTM1	Aug 01, 2003	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150638967	TTCTAGCCATTATTTGCATTTTTAAATGAAGAAAAGTTTAACGTGGATGGATGGACAGTTT
5030821	17255	NM_000551.3(VHL):c.500G>A (p.Arg167Gln)	VHL	Jul 31, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED CT:46659004;MedGen:CN517202;MedGen:CN169374	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome;not provided;not specified	germline;unknown	3	10149823	CTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAG
397508045	67476	NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	germline	13	32319101	AAATAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACC
121434590	29175	NM_002472.2(MYH8):c.2021G>A (p.Arg674Gln)	MYH8	May 31, 2016	MedGen:C1837245,OMIM:608837,Orphanet:ORPHA319340;MedGen:C0265226,OMIM:158300,Orphanet:ORPHA3377,SNOMED CT:8757006;MedGen:CN517202	Carney complex variant;Hecht syndrome;not provided	germline	17	10406924	ATCTGAGGAGCACACACCCTCACTTCGTACGGTGTATCATTCCCAATGAAACCAAAACTCC
80358254	33989	NM_000271.4(NPC1):c.2974G>A (p.Gly992Arg)	NPC1	Oct 21, 2016	MedGen:C3179455,OMIM:257220;MedGen:CN517202	Niemann-Pick disease type C1;not provided	germline;unknown	18	23538609	CTGACTCCGGAAGGCAAACAGAGGCCTCAGGGGGGAGACTTCATGAGATTCCTGCCCATGT
111033694	36512	NM_000155.3(GALT):c.443G>A (p.Arg148Gln)	GALT	Jun 14, 2017	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	germline	9	34647897	CGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCAC
119450941	17501	NM_000026.3(ADSL):c.1277G>A (p.Arg426His)	ADSL	Sep 12, 2017	MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008;MedGen:C0268126,OMIM:103050,Orphanet:ORPHA46,SNOMED CT:15285008;MedGen:CN517202	Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency;not provided	germline	22	40364965	AGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCAT
875989869	227882	NM_000016.5(ACADM):c.469-1G>A	ACADM	Feb 20, 2015	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003	Medium-chain acyl-coenzyme A dehydrogenase deficiency	germline	1	75739979	ATTTCATTTCTCTTGTTTTTATATATTCAAGGCTTATTGTGTAACAGAACCTGGAGCAGGC
121917912	79425	NM_006920.4(SCN1A):c.3701G>A (p.Arg1234Gln)	SCN1A	Apr 30, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002;MedGen:CN517202	Severe myoclonic epilepsy in infancy;not provided	germline;unknown	2	166012254	AGGCATTTGAAGATATATATATTGATCAGCGAAAGACGATTAAGACGATGTTGGAATATGC
1057519347	362110	NM_024876.3(COQ8B):c.1430G>A (p.Arg477Gln)	COQ8B	Jun 07, 2016	MedGen:C3809965,OMIM:615573	Nephrotic syndrome, type 9	germline	19	40692240	AGGACCTCATCCCGGTGCTGCTGCGGCACCGGCTGTGTCCCCCACCCGAGGAGACCTATGC
80358178	46121	NM_007294.3(BRCA1):c.4096+1G>A	BRCA1	Nov 01, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	germline	17	43091434	AAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACCAGGTTTTTGTGTTTGCCCCA
121917724	15252	NM_000285.3(PEPD):c.1342G>A (p.Gly448Arg)	PEPD	Oct 01, 2002	MedGen:C0268532,OMIM:170100	Prolidase deficiency	germline	19	33387892	GAGGTCCTGCAGCGCTTTCGCGGTTTTGGCGGGGTGAGTGCCCACGGGCCCCATTCTTGCT
74315375	21002	NM_006996.2(SLC19A2):c.1074G>A (p.Trp358Ter)	SLC19A2	Sep 01, 2000	MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED CT:237617006	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	germline	1	169468793	GTTTGCAGTTGGTTATATAAAAATATCCTGGTCAACTTGGGGAGAAATGACATTATCTCTC
1085307308	414256	NM_001204.6(BMPR2):c.1171G>A (p.Ala391Thr)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202532627	AGATATATGGCACCAGAAGTGCTAGAAGGAGCTGTGAACTTGAGGGACTGTGAATCAGCTT
556977618	170962	NM_015506.2(MMACHC):c.276G>A (p.Glu92=)	MMACHC	Aug 01, 2013	MedGen:C1848561,OMIM:277400,Orphanet:ORPHA26	Methylmalonic acidemia with homocystinuria	germline	1	45507550	TGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCC
758432471	226500	NM_002074.4(GNB1):c.229G>A (p.Gly77Ser)	GNB1	Feb 10, 2016	Human Phenotype Ontology:HP:0001263,MedGen:C4020875;Human Phenotype Ontology:HP:0001252,MedGen:C0026827	Global developmental delay;Muscular hypotonia	de novo	1	1806513	TCCAGGCTTCTCGTCAGTGCCTCGCAGGATGGTAAACTTATCATCTGGGACAGCTACACCA
-1	470931	NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter)	IL2RG	Aug 01, 2016	MedGen:C1279481,OMIM:300400,SNOMED CT:203592006	X-linked severe combined immunodeficiency	germline	X	71109265	CTGTGGAAGTGCTCAGCATTGGAGTGAATGGAGCCACCCAATCCACTGGGGGAGCAATACT
483352891	136647	NM_000271.4(NPC1):c.2366G>A (p.Arg789His)	NPC1	-	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23541313	TCGTGAGTCTCTTGGGGTTAGACATTAAACGTCAAGAGGTAAGTTGGTGCCAGGATTATAG
137853583	28679	NM_000175.4(GPI):c.1040G>A (p.Arg347His)	GPI	Mar 01, 1993	MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	germline	19	34394044	CCATGCTGCCCTATGACCAGTACCTGCACCGCTTTGCTGCGTACTTCCAGCAGGTACCAGC
118204104	16493	NM_000190.3(HMBS):c.91G>A (p.Ala31Thr)	HMBS	Jan 01, 1994	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119088638	AGGACTAATCCAAGTCTCTACCCGCAGCTTGCTCGCATACAGACGGACAGTGTGGTGGCAA
28940583	17488	NM_000434.3(NEU1):c.649G>A (p.Val217Met)	NEU1	Jan 28, 2017	MedGen:C0268228;MedGen:C0268226,OMIM:256550;MedGen:CN517202	Sialidosis type I;Sialidosis, type II;not provided	germline	6	31860588	CAGCGGGAGCCACGGAAGGGCCGCCTCATCGTGTGTGGCCATGGGACGCTGGAGCGGGACG
80358010	70377	NM_007294.3(BRCA1):c.80+1G>A	BRCA1	Oct 02, 2015	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	germline	17	43124016	TATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGTCAGCACAAGAGTGTATTAATTTGGG
863225025	213793	NM_000530.7(MPZ):c.410G>A (p.Gly137Asp)	MPZ	Sep 03, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161306746	GTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTT
869025293	223294	NM_015160.2(PMPCA):c.1543G>A (p.Gly515Arg)	PMPCA	Oct 12, 2016	MedGen:C1859298,OMIM:213200,Orphanet:ORPHA1170	Spinocerebellar ataxia, autosomal recessive 2	germline	9	136423229	CACATCCAGACCGCCCTGTCGAGTAAGGACGGGCGCCTGCCCAGGACGTACCGGCTCTTCC
879254774	245957	NM_000527.4(LDLR):c.1061-1G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111513	TCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCT
863225046	213911	NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His)	SCN4A	May 01, 2015	MedGen:C3502630,OMIM:614198	Congenital myasthenic syndrome, acetazolamide-responsive	germline	17	63941912	TCCGTGTGATCCGCCTGGCGCGGATTGGGCGTGTCCTGCGGCTGATCCGCGGGGCCAAGGG
587777464	143135	NM_001128849.1(SMARCA4):c.3239G>A (p.Gly1080Asp)	SMARCA4	May 01, 2014	MedGen:C2750074,OMIM:613325	Rhabdoid tumor predisposition syndrome 2	unknown	19	11027807	ACTCCAGGCTGGACCTGTACCGAGCCTCGGGTAAATTTGAGCTTCTTGATAGAATTCTTCC
72554664	25428	NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	G6PD	May 24, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na;na;na;na;na;MedGen:CN169374	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD ANANT;G6PD DHON;G6PD KAIPING;G6PD PETRICH-LIKE;G6PD SAPPORO-LIKE;not specified	germline	X	154532257	CCCTCAGCGACGAGCTCCGTGAGGCCTGGCGTATTTTCACCCCACTGCTGCACCAGATTGA
886041768	265000	NM_000444.5(PHEX):c.2147+1G>A	PHEX	May 24, 2016	MedGen:CN517202	not provided	germline	X	22245410	AATTGGTGCTCACAGTCCCCCTCAGTTTAGGTAAATGGGCAAATGGGTGACGGCAGTTTTT
886037778	225795	NM_001002841.1(MYL4):c.31G>A (p.Glu11Lys)	MYL4	Feb 26, 2016	MedGen:CN204347,Orphanet:ORPHA334	Familial atrial fibrillation	inherited	17	47209453	ATGGCTCCCAAGAAGCCTGAGCCTAAGAAGGAGGCAGCCAAGCCAGCTCCAGCTCCAGCTC
121912836	32477	NM_000094.3(COL7A1):c.6127G>A (p.Gly2043Arg)	COL7A1	Nov 10, 2015	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568;MedGen:CN517202	Generalized dominant dystrophic epidermolysis bullosa;not provided	germline	3	48575392	GCCGGGGAGCCTGGAAAGCCTGGTATTCCCGGGCTCCCAGGCAGGGCTGGGGGTGTGGGAG
200780796	75261	NM_015375.2(DSTYK):c.86G>A (p.Arg29Gln)	DSTYK	Jan 25, 2018	Gene:100034704,MedGen:C1835826,OMIM:610805	Congenital anomalies of kidney and urinary tract 1, susceptibility to	germline	1	205211450	GCGGCGGCGGAATGATCCGCGAGCTGTGCCGGGGCTTCGGCCGCTACCGCCGCTACCTGGG
121918233	16479	NM_015697.7(COQ2):c.437G>A (p.Ser146Asn)	COQ2	Jun 07, 2016	MedGen:CN229570,Orphanet:ORPHA35656;MedGen:C1843920,OMIM:607426	Coenzyme Q10 deficiency, primary;Coenzyme Q10 deficiency, primary 1	germline	4	83279081	CCTGGCTTCTGTATTTACCATGTACCTGGAGCATTGGTTTGGCAGCTGAACCAGGTTGTTT
1057520631	369748	NM_003165.3(STXBP1):c.794+5G>A	STXBP1	Sep 14, 2017	MedGen:CN517202	not provided	germline	9	127666301	CTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACG
118204021	16649	NM_024884.2(L2HGDH):c.164G>A (p.Gly55Asp)	L2HGDH	Nov 15, 2004	Human Phenotype Ontology:HP:0040144,MedGen:C1855995,OMIM:236792,Orphanet:ORPHA79314	L-2-hydroxyglutaric aciduria	germline	14	50302994	TTTGAAGCTCATTTGATATAGTCATCGTTGGTGGCGGAATTGTGGGGCTTGCCTCTGCCAG
180177281	200567	NM_000030.2(AGXT):c.846+1G>A	AGXT	Nov 27, 2014	MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED CT:65520001	Primary hyperoxaluria, type I	germline	2	240876005	AGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACA
63750607	426866	NM_001171.5(ABCC6):c.3608G>A (p.Gly1203Asp)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16161463	GCAAAGCCCACCTCAGTGCTGGCCTCGTGGGCTTCTCTGTCTCTGCTGCCCTCCAGGTACT
199564797	264017	NM_020451.2(SELENON):c.872G>A (p.Arg291Gln)	SELENON	Mar 03, 2016	MedGen:CN517202	not provided	germline	1	25809150	TCAGCGACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCTGGAGC
727504059	177897	NM_015560.2(OPA1):c.870+1G>A	OPA1	Jul 24, 2017	MedGen:C0338508,OMIM:165500,Orphanet:ORPHA98672,SNOMED CT:2065009;na	Dominant hereditary optic atrophy;Ocular impairment	germline;unknown	3	193637282	AGTTATAATACGCAAGATCATCTGCCACGGGTATGTGAAAAATTGATAGTGAACTTGCCAA
786201003	185938	NM_052867.3(NALCN):c.3542G>A (p.Arg1181Gln)	NALCN	Jan 13, 2016	MedGen:C4225398,OMIM:616266;MedGen:CN228792	Congenital contractures of the limbs and face, hypotonia, and developmental delay;Intellectual disability with episodic ataxia and congenital arthrogryposis	de novo	13	101083752	ATCAGAGAAGATGGGAAGACCTGAAGAGCCGACTGAAGATCGCACAGCCTCTTCATCTTCC
369698072	45728	NM_015909.3(NBAS):c.5741G>A (p.Arg1914His)	NBAS	Sep 13, 2017	MedGen:C3541319,OMIM:614800,Orphanet:ORPHA391677;MedGen:CN517202	Short stature, optic nerve atrophy, and Pelger-Huet anomaly;not provided	germline	2	15238670	TTCTTTTTTTTAAGCTGTCTGTGGAAGCCCGTAAAGAGATGACTAGAAAGGCTATTAAGAC
587777020	75238	NM_002067.4(GNA11):c.542G>A (p.Arg181Gln)	GNA11	Jun 27, 2013	MedGen:C3809243,OMIM:615361	Hypocalcemia, autosomal dominant 2	germline	19	3115009	GCTACCTGCCCACCCAGCAGGACGTGCTGCGGGTCCGCGTGCCCACCACCGGCATCATCGA
869312227	223819	NM_000169.2(GLA):c.1118G>A (p.Gly373Asp)	GLA	Dec 14, 2016	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001;MedGen:CN517202	Fabry disease;not provided	germline	X	101397981	GCTCTTATACCATCGCAGTTGCTTCCCTGGGTAAAGGAGTGGCCTGTAATCCTGCCTGCTT
281860268	46934	NM_005211.3(CSF1R):c.1766G>A (p.Gly589Glu)	CSF1R	Aug 30, 2012	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	not provided	5	150061583	GACCTGTGTGCGTGGCAGGTAAGACCCTCGGAGCTGGAGCCTTTGGGAAGGTGGTGGAGGC
104886348	35842	NM_000495.4(COL4A5):c.2245-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108606741	TTTGTTGTGTTTTGTCATGTGTATGCTCAAGGGTGAACCAGGATTTGCATTACCTGGGCCA
886042046	264105	NM_003042.3(SLC6A1):c.1648G>A (p.Gly550Arg)	SLC6A1	Oct 10, 2016	MedGen:CN517202	not provided	germline	3	11034651	ATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCACCTTAA
397515584	76687	NM_194248.2(OTOF):c.1607G>A (p.Trp536Ter)	OTOF	Apr 26, 2011	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	not provided	2	26480982	CAGGCTTCCTGCCCACACTGGGCCCAGCCTGGGTGAACATGTACGGCTCCACACGTAACTA
387906740	38986	NM_001376.4(DYNC1H1):c.4552G>A (p.Glu1518Lys)	DYNC1H1	Mar 01, 2012	MedGen:C3281202,OMIM:614563	Mental retardation, autosomal dominant 13	germline	14	102002546	TCCCTCCTGTCTGCCCACCAGGTTTTTGAAGAGGATGCTCTCAGCTGGGAAGATAAGCTGA
770380730	440126	NM_001080463.1(DYNC2H1):c.1289G>A (p.Arg430His)	DYNC2H1	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	paternal	11	103120965	CATTCCTGAAATATAAAGAGTTGGTAAAGCGTCCAACTATAAGCAAAGAATTGATGTTAGA
104893646	28931	NM_005378.5(MYCN):c.1178G>A (p.Arg393His)	MYCN	May 01, 2005	MedGen:C0796068,OMIM:164280	Feingold syndrome 1	germline	2	15945880	GCAGAAACCACAACATCCTGGAGCGCCAGCGCCGCAACGACCTTCGGTCCAGCTTTCTCAC
398123238	98500	NM_000181.3(GUSB):c.866G>A (p.Trp289Ter)	GUSB	Oct 14, 2013	MedGen:C0085132,OMIM:253220,Orphanet:ORPHA584	Mucopolysaccharidosis type VII	germline	7	65976061	AACTTAAGGTGCCAGGTGTCAGCCTCTGGTGGCCGTACCTGATGCACGAACGCCCTGCCTA
28931608	31946	NM_000941.2(POR):c.1370G>A (p.Arg457His)	POR	Mar 18, 2016	MedGen:C1860042,OMIM:201750;MedGen:C2673964,OMIM:613571	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency	germline	7	75985179	TGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGT
121907988	18907	NM_006623.3(PHGDH):c.1273G>A (p.Val425Met)	PHGDH	Dec 01, 2000	MedGen:C1866174,OMIM:601815	Phosphoglycerate dehydrogenase deficiency	germline	1	119742870	GAGCAAGGCTTCGGGGAATGCCTCCTGGCCGTGGCCCTGGCAGGCGCCCCTTACCAGGCTG
387907051	39874	NM_152722.4(HEPACAM):c.631G>A (p.Asp211Asn)	HEPACAM	Apr 08, 2011	MedGen:C3151355,OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	germline	11	124923807	GTGCTCACCATCACCCGCGTGCTCATGGAGGATGACGACCTGTACAGCTGCATGGTGGAGA
780882740	214305	NM_019892.5(INPP5E):c.1021G>A (p.Gly341Ser)	INPP5E	Feb 23, 2015	Human Phenotype Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:253175003,SNOMED CT:716997004	Joubert syndrome	unknown	9	136434050	CAGGACCTGTATGTCATCGGGGTCCAGGAGGGCTGTTCTGACAGGTAGGGCGGCTGCAGGC
138004478	106537	NM_020800.2(IFT80):c.721G>A (p.Gly241Arg)	IFT80	Feb 01, 2011	MedGen:C1970005,OMIM:611263	Asphyxiating thoracic dystrophy 2	germline	3	160356069	CCCATTACTTCAGTTGCCTGGGCTCCAGATGGAGAATTATTTGCTGTTGGATCGTTTCATA
398123460	99133	NM_000532.4(PCCB):c.183+1G>A	PCCB	Sep 14, 2012	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35	Propionic acidemia	germline	3	136250559	CAACGCCGTATTGACGCGCAGCACAAGCGAGTGAGTCCTGAGGGGCCTAAGTGAGTCCCGC
74315286	19423	NM_057176.2(BSND):c.3G>A (p.Met1Ile)	BSND	Nov 01, 2001	MedGen:C1865270,OMIM:602522	Bartter syndrome type 4	germline	1	54999189	GTGCAGGCCAGGGACTGGCCAGGCAGCCATGGCTGACGAGAAGACCTTCCGGATCGGCTTC
145138923	98271	NM_000048.3(ASL):c.35G>A (p.Arg12Gln)	ASL	Sep 22, 2017	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004;MedGen:CN517202	Argininosuccinate lyase deficiency;not provided	germline;unknown	7	66081825	CTGGCCAGAGTGGGAAGCTTTGGGGTGGCCGGTTTGTGGGTGCAGTGGACCCCATCATGGA
794729673	199872	NM_032415.5(CARD11):c.146G>A (p.Cys49Tyr)	CARD11	Apr 27, 2015	MedGen:CN231446,OMIM:616452	B-cell expansion with NFKB and T-cell anergy	germline	7	2947649	CTGCCAAGCTCACGCCCTACCTGCGTCAGTGTAAGGTCATTGATGAGCAGGATGAAGATGA
62654395	104996	NM_000350.2(ABCA4):c.194G>A (p.Gly65Glu)	ABCA4	Jan 01, 2016	MeSH:C535804,MedGen:C1855465,OMIM:248200;MedGen:CN517202	Stargardt disease 1;not provided	germline	1	94111546	ATTTCCCCAACAAGGCGATGCCCTCAGCAGGAATGCTGCCGTGGCTCCAGGGGATCTTCTG
-1	444344	NM_004959.4(NR5A1):c.938G>A (p.Arg313His)	NR5A1	Sep 08, 2017	MedGen:CN517202	not provided	germline	9	124493082	GCGAGCTGCTGGTGTTCGACCACATCTACCGCCAGGTCCAGCACGGCAAGGAGGGCAGCAT
398123375	98868	NM_000426.3(LAMA2):c.4523+1G>A	LAMA2	Feb 12, 2013	MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED CT:111503008	Merosin deficient congenital muscular dystrophy	germline	6	129349385	ACGGGGATATGAAGGCCAGTACTGTGAAAGGTACCAACAGCCATGAAACGTACAGAGTAAT
1064795352	410127	NM_032043.2(BRIP1):c.2448G>A (p.Trp816Ter)	BRIP1	May 19, 2017	MedGen:CN517202	not provided	germline	17	61715995	ATTGAGAGGTCTTCTACCTGGCCGTCAGTGGTATGAAATTCAAGCATACAGGGCCTTAAAC
727503211	175199	NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter)	MYBPC3	Mar 20, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	11	47346331	GCTGGAGGCACCAGCAGAGGAGGACGTGTGGGAGATCCTACGGCAGGCACCCCCATCTGAG
752207334	207048	NM_025180.4(CEP63):c.1068-1G>A	CEP63	May 27, 2015	MedGen:C3553582,OMIM:614728	Seckel syndrome 6	germline	3	134549061	TTAAGTATGGGATCTTATTTTTGTCATACAGTTTGGAATCTGTGAGTGCAACGTGTAAACA
104894593	16602	NM_000263.3(NAGLU):c.1928G>A (p.Arg643His)	NAGLU	Jan 01, 1999	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	germline	17	42543934	CCGAGGCCGATTTCTACGAGCAGAACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGG
137853100	23145	NM_006261.4(PROP1):c.296G>A (p.Arg99Gln)	PROP1	Jan 01, 2003	MedGen:C0878683,OMIM:262600	Pituitary hormone deficiency, combined 2	germline	5	177994152	GGAGGAACCAGTACCCCGACATCTGGGCCCGAGAGAGTCTTGCCCGGGACACTGGCCTCAG
754289857	373270	NM_000494.3(COL17A1):c.332-1G>A	COL17A1	May 28, 2015	MedGen:CN517202	not provided	germline	10	104074232	ATTTGTTCTAAGTGTTTCATCCCCTCTCCAGGGAGCTCCAGTGGCAACTCTTCTCCGGAGT
886039403	260024	NM_000424.3(KRT5):c.555+1G>A	KRT5	May 12, 2015	MedGen:CN517202	not provided	germline	12	52519741	AACAATAAGTTTGCCTCCTTCATCGACAAGGTGAGCTACGATCTTTTGTAAAAAATCACTG
397509418	75098	NM_021942.5(TRAPPC11):c.1287+5G>A	TRAPPC11	Dec 07, 2017	MedGen:C3809236,OMIM:615356;MedGen:CN517202	Limb-girdle muscular dystrophy, type 2S;not provided	biparental;germline;inherited	4	183684059	TGAAGGAGAGAAATGTTGTTCACTCTGTAAGTTTTGTGTCCAATATAAACTATTTTTTACA
886039801	260906	NM_198428.2(BBS9):c.2115+1G>A	BBS9	-	MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED CT:5619004	Bardet-Biedl syndrome	germline	7	33388145	GACACCTTGTTAGATGGAACCTACAAGCAGGTCAGTATAATATCAGTAACAGTTTTCTATT
587777395	136562	NM_001257360.1(AMPD2):c.2021G>A (p.Arg674His)	AMPD2	Aug 01, 2013	MedGen:C4014354,OMIM:615809,Orphanet:ORPHA369920	Pontocerebellar hypoplasia, type 9	germline	1	109629487	TTGCCAACATGGCCATGTTGAACCACCTGCGCAGGTGCCTGCACCACCCTGTGTCTGCTTG
121909149	22590	NM_001122681.1(SH3BP2):c.1244G>A (p.Arg415Gln)	SH3BP2	Jun 01, 2001	MedGen:C0008029,OMIM:118400,Orphanet:ORPHA184,SNOMED CT:76098004	Fibrous dysplasia of jaw	germline	4	2831573	TCCTGCCTTCCTCTCCCTGCCCCTCCAGGCGATCACCCCCCGATGGGCAGAGTTTCAGGAG
104886232	35955	NM_000495.4(COL4A5):c.3257G>A (p.Gly1086Asp)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108655341	CTTTTTATTCGTGTTTTCAGGGTGAGCCTGGTCTGCCTGGATACCCAGGGAACCCTGGTAT
104893984	17490	NM_000434.3(NEU1):c.87G>A (p.Trp29Ter)	NEU1	Oct 01, 2001	MedGen:C0268226,OMIM:256550	Sialidosis, type II	germline	6	31862690	TCTGGGCTTCTGGGGAGGCTGTAGGGTTTGGGTGTTTGCCGCGATCTTCCTGCTGCTGTCT
727503329	175223	NM_000260.3(MYO7A):c.3892G>A (p.Gly1298Arg)	MYO7A	Apr 20, 2017	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77190838	GCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACA
397514261	75337	NM_005546.3(ITK):c.86G>A (p.Arg29His)	ITK	May 01, 2012	MedGen:C3552634,OMIM:613011	Lymphoproliferative syndrome 1	germline	5	157181063	GAAGAACTTCTCCCTCGAACTTTAAAGTCCGCTTCTTTGTGTTAACCAAAGCCAGCCTGGC
75096551	33858	NM_000492.3(CFTR):c.2988+1G>A	CFTR	Apr 15, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN169374	Cystic fibrosis;Hereditary pancreatitis;not specified	germline;unknown	7	117606754	CTGCCTCTTACCATATTTGACTTCATCCAGGTATGTAAAAATAAGTACCGTTAAGTATGTC
80359816	31150	NM_006516.2(SLC2A1):c.377G>A (p.Arg126His)	SLC2A1	Dec 05, 2016	MedGen:C3553859,OMIM:614847;MedGen:CN030711,OMIM:606777;MedGen:CN517202	Epilepsy, idiopathic generalized, susceptibility to, 12;GLUT1 deficiency syndrome 1;not provided	germline	1	42930765	GCAAGTCCTTTGAGATGCTGATCCTGGGCCGCTTCATCATCGGTGTGTACTGCGGCCTGAC
-1	424265	NM_018136.4(ASPM):c.2085G>A (p.Trp695Ter)	ASPM	Mar 29, 2017	MedGen:C1837501,OMIM:608716	Primary autosomal recessive microcephaly 5	biparental	1	197135184	TGCAAAAAACATGTTTTATGATGAACGCTGGAAGGAAAAGCAGGAACAGGGCTTCACTTGG
730880639	179331	NM_000256.3(MYBPC3):c.1223+1G>A	MYBPC3	Jul 12, 2017	Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN517202	Hypertrophic cardiomyopathy;not provided	germline	11	47343491	GAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGG
397517974	57538	NM_206933.2(USH2A):c.1143+1G>A	USH2A	Feb 16, 2011	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216325304	TCAGTTGATTTGGAAAATGGACAGTATCAGGTAATGAGAAACGATAAGGTGTACATTAATT
377767354	36180	NM_005359.5(SMAD4):c.1139+1G>A	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51065607	CCACAGGACAGAAGCCATTGAGAGAGCAAGGTATTGATTGTATAGTCAGATAGTTACTTTA
1057519337	362080	NM_015365.2(AMMECR1):c.530G>A (p.Gly177Asp)	AMMECR1	May 17, 2017	MedGen:C4310810,OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	germline	X	110264543	GTCGAGACAAAAGATTACGTGGATGCATAGGTACTTTTTCTGCCATGAATTTGCATTCAGG
-1	432139	NM_000444.5(PHEX):c.732+5G>A	PHEX	Oct 31, 2013	MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004	Familial X-linked hypophosphatemic vitamin D refractory rickets	germline	X	22090502	TTGATAACAGTACAGAAGCCAAGTCTGTAAGTTTTACTCATATTCAACTATGTGCCTTACC
587784017	168488	NM_133433.3(NIPBL):c.6590G>A (p.Gly2197Glu)	NIPBL	Feb 08, 2013	MedGen:CN029798,OMIM:122470	Cornelia de Lange syndrome 1	germline	5	37048502	ATATGATGAGATTTTTCCCCTCTCCCATAGGATTTGCCTTTATTCAGCATCCAAGTCTAAT
28928878	30888	NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	HBA1	Jul 20, 2016	na;MedGen:CN077787	HEMOGLOBIN ADANA;Hemoglobin H disease, nondeletional	germline	16	177012	GCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGC
879254683	245800	NM_000527.4(LDLR):c.809G>A (p.Cys270Tyr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11106679	ACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTT
-1	444136	NM_000162.4(GCK):c.580-1G>A	GCK	Sep 05, 2017	MedGen:CN517202	not provided	germline	7	44149860	CCAGCACTGCAGCTTCTGTGCTTCTTGGCAGGACTTTGAAATGGATGTGGTGGCAATGGTG
104894318	18841	NM_000372.4(TYR):c.1342G>A (p.Asp448Asn)	TYR	Jul 15, 1992	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89284930	TTCTTTATTTCATCCAAAGATCTGGGCTATGACTATAGCTATCTACAAGATTCAGGTAAAG
104893740	30965	NM_144499.2(GNAT1):c.113G>A (p.Gly38Asp)	GNAT1	Jul 01, 1996	MedGen:C1864870,OMIM:610444	Congenital stationary night blindness, autosomal dominant 3	germline	3	50193139	TCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCA
397518484	94345	NM_001142617.1(STRA6):c.1521-1G>A	STRA6	Mar 01, 2013	MedGen:C1832661,OMIM:601186,Orphanet:ORPHA2470	Microphthalmia syndromic 9	germline	15	74181459	GGCCTGCCTCAGCTTTCTTCTCCCATCCTAGGCGAGTGCTCTATGCAGCCACCTTTCTTCT
74503330	22256	NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn)	CFTR	Apr 04, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN236562;MedGen:CN517202	Cystic fibrosis;ivacaftor response - Efficacy;not provided	germline	7	117642472	GCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACT
775011495	481389	NM_181789.3(GLDN):c.1305G>A (p.Trp435Ter)	GLDN	Dec 09, 2017	MedGen:C4310670,OMIM:617194	Lethal congenital contracture syndrome 11	germline	15	51404403	CAATCTAGCTGTAGATGAAAAGGGCCTTTGGATTATCTATGCGTCAAGTGTGGACGGCTCG
113993965	47572	NM_003722.4(TP63):c.518G>A (p.Gly173Asp)	TP63	Aug 06, 2015	MedGen:C1863204,OMIM:103285,Orphanet:ORPHA978	ADULT syndrome	germline	3	189808465	CCGCCATCCCCTCCAACACCGACTACCCAGGCCCGCACAGTTTCGACGTGTCCTTCCAGCA
81002873	67120	NM_000059.3(BRCA2):c.7976+1G>A	BRCA2	Dec 28, 2016	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	germline;somatic	13	32362694	AGAAAGGGTGCTTCTTCAACTAAAATACAGGCAAGTTTAAAGCATTACATTACGTAATCAT
398123116	98251	NM_000038.5(APC):c.1659G>A (p.Trp553Ter)	APC	Feb 21, 2013	MedGen:C2713442,OMIM:175100	Familial adenomatous polyposis 1	germline	5	112828888	TATTGCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAGACGTTG
267607200	17481	NM_001173464.1(KIF21A):c.2841G>A (p.Met947Ile)	KIF21A	Jul 01, 2004	MedGen:C2751105	Fibrosis of extraocular muscles, congenital, 3b	germline	12	39332606	GATGACCATTTCCAACATGGAGGCAGATATGAATAGACTCCTCAAGGTGTGGAAAATAGAG
72658161	194095	NM_000089.3(COL1A2):c.2099G>A (p.Gly700Asp)	COL1A2	Oct 02, 2014	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Osteogenesis imperfecta type III;Osteogenesis imperfecta with normal sclerae, dominant form	germline	7	94420252	TCCCATTATAGGGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAG
104886210	35932	NM_000495.4(COL4A5):c.3088G>A (p.Gly1030Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108625776	ATAGGACCTCCTGGACTTAAAGGAACCATCGGTGATATGGGTTTTCCAGGTGAGTGATGAA
28935479	26238	NM_139058.2(ARX):c.856G>A (p.Gly286Ser)	ARX	Mar 31, 2017	MedGen:C0796244,OMIM:300419;MedGen:CN517202	Mental retardation, with or without seizures, ARX-related, X-linked;not provided	germline	X	25013139	GCAGCAGCTGCCGCTGCAGTGGCCACAGAGGGCGGGGAGCTGTCACCCAAGGAGGAGCTGC
906553840	413953	NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser)	COL1A2	Jul 31, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004;MedGen:C0268363,OMIM:166220,Orphanet:ORPHA216820,SNOMED CT:205497004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;Osteogenesis imperfecta with normal sclerae, dominant form	germline;maternal	7	94409403	CGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACT
267606749	32207	NM_001849.3(COL6A2):c.1493G>A (p.Arg498His)	COL6A2	Jul 07, 2009	MedGen:CN033863,OMIM:254090	Ullrich congenital muscular dystrophy 1	germline	21	46121590	CTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGT
797044569	188189	NM_002055.4(GFAP):c.197G>A (p.Arg66Gln)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007	Alexander's disease	germline	17	44915290	GGGCACTCAATGCTGGCTTCAAGGAGACCCGGGCCAGTGAGCGGGCAGAGATGATGGAGCT
587776434	165630	NC_012920.1:m.3890G>A	MT-ND1	Apr 17, 2014	MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	Leigh syndrome	germline	MT	3890	GATTTATCTCCACACTAGCAGAGACCAACCGAACCCCCTTCGACCTTGCCGAAGGGGAGTC
137852409	25240	NM_000132.3(F8):c.986G>A (p.Cys329Tyr)	F8	Jan 01, 1995	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154969354	TGATGGACCTTGGACAGTTTCTACTGTTTTGTCATATCTCTTCCCACCAACATGGTAATAT
1057520577	372850	NM_170665.3(ATP2A2):c.1185-1G>A	ATP2A2	Apr 08, 2015	MedGen:CN517202	not provided	germline	12	110333180	CCTGCTCTAAGAGTGTTTTCTCTTTGGGCAGGCATAAAGATGATAAACCAGTGAATTGTCA
137853132	20783	NM_005094.3(SLC27A4):c.274G>A (p.Ala92Thr)	SLC27A4	Aug 01, 2009	MedGen:C1837610,OMIM:608649,Orphanet:ORPHA88621	Ichthyosis prematurity syndrome	germline	9	128345267	TCTACCGTTCGGCGCCACCCCGACAAGACGGCCCTGATCTTCGAGGGCACAGATACCCACT
369858688	362087	NM_015692.3(CPAMD8):c.4549-1G>A	CPAMD8	Jan 27, 2017	MedGen:C4310622,OMIM:617319	Anterior segment dysgenesis 8	germline	19	16903624	AGCAGGGCCTCACGGTGACTTCTGTCTCCAGATCCCCAGCCTCCCCACGGGGCTGTTTGTG
879255563	33401	NM_000080.3(CHRNE):c.501-16G>A	CHRNE	Aug 09, 2005	MedGen:C1837091,OMIM:608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	germline	17	4901641	CCCAGGTCAGAGCTTCTGGGGTGGGCTCCCGGCCCTGGCTCCGCAGCTCTCAGACGTACAA
62644503	108560	NM_000277.2(PAH):c.755G>A (p.Arg252Gln)	PAH	Dec 21, 2016	MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716,SNOMED CT:154735006;MedGen:CN517202	Phenylketonuria;not provided	germline	12	102852902	TCCGACCTGTGGCTGGCCTGCTTTCCTCTCGGGATTTCTTGGGTGGCCTGGCCTTCCGAGT
121912912	415116	NM_000089.3(COL1A2):c.1136G>A (p.Gly379Glu)	COL1A2	Mar 28, 2017	MedGen:CN517202	not provided	germline	7	94410466	AAGGTCCTCCTGGTCCCAGTGGTGAAGAAGGAAAGAGAGGCCCTAATGGGGAAGCTGGATC
797044877	205340	NM_000292.2(PHKA2):c.884G>A (p.Arg295His)	PHKA2	-	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	X	18940029	TCTCTTATTAGGGGCGTTATGGATGCTGTCGCTTCCTTCGAGATGGTTATAAAACTCCAAG
28931589	32623	NM_001904.3(CTNNB1):c.101G>A (p.Gly34Glu)	CTNNB1	May 31, 2016	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0153574,Orphanet:ORPHA213569;Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616;MeSH:D010051,MedGen:CN236629;Human Phenotype Ontology:HP:0030434,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:ORPHA91414;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037	Adenocarcinoma of lung;Adenocarcinoma of stomach;Adrenocortical carcinoma;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Ovarian Neoplasms;Pilomatrixoma;Squamous cell carcinoma of the head and neck	somatic	3	41224613	ACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCC
-1	486714	NM_015506.2(MMACHC):c.81G>A (p.Gln27=)	MMACHC	Mar 06, 2018	MedGen:CN847584	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	germline	1	45500413	TCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGC
121909307	23564	NM_000178.3(GSS):c.491G>A (p.Arg164Gln)	GSS	Nov 23, 2016	Human Phenotype Ontology:HP:0003343,MedGen:C0398746,OMIM:266130,Orphanet:ORPHA289846,SNOMED CT:234589002	Gluthathione synthetase deficiency	germline	20	34942488	GCCTGGCCTCCCGGACCCCAGCTGTGCACCGGTGGGTCCCCTGGGCAGCCCCCGGCATACC
74315403	28438	NM_000311.4(PRNP):c.532G>A (p.Asp178Asn)	PRNP	Jan 05, 2010	MedGen:C0206042,OMIM:600072,Orphanet:ORPHA466,SNOMED CT:83157008;MedGen:C0206042,OMIM:600072,Orphanet:ORPHA466,SNOMED CT:83157008;MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C0022336,OMIM:123400,Orphanet:ORPHA204,SNOMED CT:792004	Fatal familial insomnia;Fatal familial insomnia;Genetic prion diseases;Jakob-Creutzfeldt disease	germline	20	4699752	GAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACA
397507543	49025	NM_002834.4(PTPN11):c.1502G>A (p.Arg501Lys)	PTPN11	Dec 25, 2016	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	germline	12	112489078	CCAAAACCATCCAGATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAGCACAGTA
756928158	192187	NM_000166.5(GJB1):c.271G>A (p.Val91Met)	GJB1	Jun 26, 2017	MedGen:CN118851;MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007	Charcot-Marie-Tooth Neuropathy X;X-linked hereditary motor and sensory neuropathy	germline	X	71223978	CTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACA
760363252	21116	NM_004260.3(RECQL4):c.1704+1G>A	RECQL4	Jun 01, 2010	MedGen:C0032339,OMIM:268400,Orphanet:ORPHA2909,SNOMED CT:69093006	Rothmund-Thomson syndrome	germline	8	144514441	AGGAAGCAACGGGAATCTGTCCTGCAGAAGGTGGGGGCCTCATGGGCCTAGGGGTGAGGGA
997026784	434872	NM_024417.4(FDXR):c.1429G>A (p.Glu477Lys)	FDXR	Oct 12, 2017	MedGen:CN533577,OMIM:617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	germline	17	74862864	GCCCGGGGCCAGGGCACGGGGAAGCCCAGGGAGAAGCTGGTGGATCCTCAGGAGATGCTGC
1057519079	359110	NM_014339.6(IL17RA):c.1159G>A (p.Asp387Asn)	IL17RA	Dec 19, 2016	MedGen:C3151402,OMIM:613953	Immunodeficiency 51	germline	22	17108378	CCCAGGAAGGTCTGGATCATCTACTCAGCCGACCACCCCCTCTACGTGGACGTGGTCCTGA
58073789	426964	NM_001171.5(ABCC6):c.2171G>A (p.Arg724Lys)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16182488	GGCAGGAGCTGGACCCACCCTGGCTGGAGAGAGTACTAGAAGCCTGTGCCCTGCAGCCAGA
768835732	389251	NM_144612.6(LOXHD1):c.4843G>A (p.Gly1615Arg)	LOXHD1	Jun 04, 2016	MedGen:C2746083,OMIM:613079	Deafness, autosomal recessive 77	germline	18	46524499	ATGGCCGATGTCGACATCAGCACAGTGACCGGGCCCATGGCTGACTACGTTCAAGAGGGCC
121434553	32188	NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu)	COL6A3	Sep 23, 2016	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	2	237367151	TTTATGAAGATGGCGACTCCATCCAAGTGGGGCTTGTCCAGTACAACTCTGACCCCACTGA
587779565	107022	NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=)	COL3A1	Aug 02, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	189010890	CACCTACACAGTTCTGGAGGATGGTTGCACGGTAGGAAACATTTTTCTCAATATAGGTCAT
79681911	33146	NM_000331.5(SAA1):c.269G>A (p.Gly90Asp)	SAA1	Mar 01, 1992	na	Serum amyloid a variant	germline	11	18269755	GAGAGAATATCCAGAGATTCTTTGGCCATGGTGCGGAGGACTCGCTGGCTGATCAGGCTGC
587779662	107153	NM_000090.3(COL3A1):c.2753G>A (p.Gly918Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004073	CGGGTAACACTGGTGCTCCTGGCAGCCCTGGAGTGTCTGGACCAAAAGGTGATGCTGGCCA
267606848	31113	NM_001146040.1(GLRA1):c.884G>A (p.Ser295Asn)	GLRA1	Feb 01, 2008	MedGen:C1835614,OMIM:149400,Orphanet:ORPHA3197	Hyperekplexia hereditary	germline	5	151851418	TCACCACTGTGCTCACCATGACCACCCAGAGCTCCGGCTCTCGAGCATCTCTGCCCAAGGT
398123281	98602	NM_000263.3(NAGLU):c.503G>A (p.Trp168Ter)	NAGLU	Aug 09, 2012	MedGen:CN517202	not provided	germline	17	42537517	CGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGT
760225886	228312	NM_206933.2(USH2A):c.9570+1G>A	USH2A	Apr 17, 2015	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	215816996	GGACACATTTGCTATTCTTCTGAAGCTAAGGTAAGTCTTTTCTAACTAATCAGTGAACCAT
-1	424465	NM_172079.2(CAMK2B):c.820-1G>A	CAMK2B	Jul 03, 2017	Human Phenotype Ontology:HP:0001249,MedGen:C1843367	Intellectual disability	de novo	7	44241784	GGCTGCCATATGACCACCCATTTCCCCACAGCAACGCTCCACGGTAGCATCCATGATGCAC
587783589	169852	NM_178151.2(DCX):c.809-1G>A	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111331042	CTACTAAGCTGTCTGTGTCCTTTTGCCCCAGAATGCCGAGTCATGAAGGGAAACCCATCAG
118203984	16398	NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	ALDH5A1	Aug 27, 2014	MedGen:C0268631,OMIM:271980,Orphanet:ORPHA22,SNOMED CT:49748000	Succinate-semialdehyde dehydrogenase deficiency	germline	6	24528049	CCGTTTCTAAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAACTTGGAAAAAATTT
267606750	32198	NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn)	COL6A2	Jan 07, 2016	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	21	46125509	TGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACT
104893936	22064	NM_001001502.2(SNCB):c.208G>A (p.Val70Met)	SNCB	Sep 14, 2004	MedGen:C0752347,OMIM:127750	Lewy body dementia	germline	5	176626472	AAGGAACAGGCCTCACATCTGGGAGGAGCTGTGTTCTCTGGGGCAGGGAACATCGCAGCAG
121909669	31262	NM_004960.3(FUS):c.1553G>A (p.Arg518Lys)	FUS	Feb 27, 2009	MedGen:C1842675,OMIM:608030	Amyotrophic lateral sclerosis type 6	germline	16	31191410	TTTTTTTTTTTTTTTGCAGGGGTGAGCACAGACAGGATCGCAGGGAGAGGCCGTATTAATT
794727121	191529	NM_001848.2(COL6A1):c.1013G>A (p.Gly338Glu)	COL6A1	Mar 23, 2016	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45990783	AGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTC
121909129	22648	NM_001320198.1(KRT86):c.1237G>A (p.Glu413Lys)	KRT86	Jan 01, 2004	MedGen:C0546966,OMIM:158000,Orphanet:ORPHA573,SNOMED CT:69488000;MedGen:CN517202	Beaded hair;not provided	germline	12	52306270	ATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAGGTGGGTCCCATAGACCTTTC
869312881	226594	NM_000364.3(TNNT2):c.316G>A (p.Glu106Lys)	TNNT2	Jun 01, 2010	MedGen:C1832243,OMIM:601494	Left ventricular noncompaction 6	germline	1	201365286	CACCCACAGGACATCCACCGGAAGCGCATGGAGAAGGACCTGAATGAGTTGCAGGCGCTGA
75527207	22159	NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp)	CFTR	Jun 07, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED CT:68072000;MedGen:CN236562;MedGen:CN517202;MedGen:CN169374	Cystic fibrosis;Hereditary pancreatitis;ivacaftor response - Efficacy;not provided;not specified	germline;maternal;unknown	7	117587806	TTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGGTG
1131691564	422461	NM_000475.4(NR0B1):c.708G>A (p.Trp236Ter)	NR0B1	Sep 16, 2015	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004;MedGen:CN517202	Congenital adrenal hypoplasia, X-linked;not provided	germline	X	30308656	TCCGGAGGAGCGGCCGAGGGCCCCCTGGTGGGACACCTCCTCTGGTGCGCTGCGGCCGGTG
28940278	17777	NM_004183.3(BEST1):c.140G>A (p.Arg47His)	BEST1	Apr 01, 2000	MedGen:C0339510,OMIM:153700,Orphanet:ORPHA1243,SNOMED CT:90036004;MedGen:CN517202	Vitelliform macular dystrophy type 2;not provided	germline	11	61951946	TAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTG
879255051	246375	NM_000527.4(LDLR):c.1846-1G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline;unknown	19	11120091	GGATTTGTCATCTTCCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAAC
121907892	18551	NM_144585.3(SLC22A12):c.774G>A (p.Trp258Ter)	SLC22A12	Jun 14, 2016	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	Familial renal hypouricemia	germline	11	64593747	AGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCC
797045586	207083	NM_032682.5(FOXP1):c.1541G>A (p.Arg514His)	FOXP1	Apr 21, 2017	MedGen:C3150923,OMIM:613670;MedGen:CN517202	Mental retardation with language impairment and with or without autistic features;not provided	de novo;germline;not applicable	3	70972666	CTCTTTTATACTTGCTGCAGAATGCAGTGCGTCATAATCTTAGTCTTCACAAGTGTTTTGT
-1	446193	NM_175614.4(NDUFA11):c.97+5G>A	NDUFA11	Mar 21, 2016	MedGen:CN517202	not provided	germline	19	5903607	CACCACCAGTATTGCCAGCGTCGCTGGTGAGCGCCGGCCGGGCCCCGAGGGTGGAGGGCCG
587783766	170037	NM_000252.2(MTM1):c.1244G>A (p.Gly415Glu)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150658011	TACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCTGTGAGTAAACAAAG
863224472	213497	NM_000166.5(GJB1):c.9G>A (p.Trp3Ter)	GJB1	May 05, 2015	MedGen:CN118851	Charcot-Marie-Tooth Neuropathy X	germline	X	71223716	TTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTG
879255626	247495	NM_007118.3(TRIO):c.4283G>A (p.Arg1428Gln)	TRIO	Mar 27, 2017	MedGen:C4310740,OMIM:617061,Orphanet:ORPHA476126	Mental retardation, autosomal dominant 44	germline	5	14394102	TTTCTTCCTACCTTATTAAACCAGTTCAGCGAATAACGAAGTATCAGCTCCTTTTAAAAGT
1085307362	414317	NM_001204.6(BMPR2):c.1487G>A (p.Cys496Tyr)	BMPR2	Aug 12, 2016	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007;MedGen:CN169374	Primary pulmonary hypertension;not specified	germline	2	202552789	AGGATGCAGAGGCTCGGCTTACTGCACAGTGTGCTGAGGAAAGGATGGCTGAACTTATGAT
869320661	227128	NM_152296.4(ATP1A3):c.946G>A (p.Gly316Ser)	ATP1A3	Apr 07, 2017	MedGen:C1868681,OMIM:128235,Orphanet:ORPHA71517	Dystonia 12	germline	19	41984965	ACCTGGCTTGAGGCTGTCATCTTCCTCATCGGCATCATCGTGGCCAATGTCCCAGAGGGTC
-1	448826	NM_001165963.2(SCN1A):c.4339-1G>A	SCN1A	Apr 17, 2017	MedGen:C0393706,Orphanet:ORPHA1934	Early infantile epileptic encephalopathy	germline	2	165998176	TAATATTTTACAAAATATTCCCCTTTGGTAGGTGGAACTCCAGCCTAAGTATGAAGAAAGT
750247691	419005	NM_025139.5(ARMC9):c.205G>A (p.Gly69Arg)	ARMC9	Aug 16, 2017	MedGen:CN262509;MedGen:CN399089,OMIM:617622	ARMC9-related Joubert syndrome;JOUBERT SYNDROME 30	germline;paternal	2	231214858	CAGAAGGATCTTGTCGCTGCATTTGACAACGGAGACCAGAAGGTGTTCTTCGATCTGTGGG
397514718	75081	NM_080605.3(B3GALT6):c.466G>A (p.Asp156Asn)	B3GALT6	Jun 06, 2013	MedGen:C0432243,OMIM:271640,Orphanet:ORPHA93359,SNOMED CT:254100000	Spondyloepimetaphyseal dysplasia with joint laxity	germline	1	1232744	CACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGC
760376992	426846	NM_001171.5(ABCC6):c.3787G>A (p.Gly1263Arg)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16157758	TGTGCAGCTCAGCCCCCCTGGCCTCAGGGCGGGCAGATCGAGTTCCGGGACTTTGGGCTAA
142439525	59859	NM_030964.3(SPRY4):c.910G>A (p.Val304Ile)	SPRY4	May 02, 2013	MedGen:C3808971,OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia	germline	5	142314268	CCTGGTTGCCGCTGCAAGCACACGAACAGCGTCATCTGCAAAGCAGCCAGCGGGGATGCCA
80338727	34364	NM_014251.2(SLC25A13):c.1801G>A (p.Glu601Lys)	SLC25A13	Jan 05, 2012	MedGen:C1853942,OMIM:605814,Orphanet:ORPHA247598	Neonatal intrahepatic cholestasis caused by citrin deficiency	not provided	7	96121695	CCCCAGTTTGGTGTAACTTTGCTGACTTACGAATTGCTACAGCGATGGTTCTACATTGATT
398124096	100745	NM_004006.2(DMD):c.9564-1G>A	DMD	Jun 19, 2013	MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED CT:387732009;MedGen:C3668940,OMIM:302045;MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy	germline	X	31206668	AATTGTTTTCTGCTTTGATTCTTCATAATAGGGGACGAACAGGGAGGATCCGTGTCCTGTC
397514737	75270	NM_000816.3(GABRG2):c.968G>A (p.Arg323Gln)	GABRG2	Dec 01, 2016	MedGen:C1858674;MedGen:CN517202	Generalized epilepsy with febrile seizures plus 3;not provided	germline	5	162149153	TGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCAC
774323189	186967	NM_000049.2(ASPA):c.859G>A (p.Ala287Thr)	ASPA	Aug 04, 2016	MedGen:C0751663;MedGen:C0206307,OMIM:271900,Orphanet:ORPHA141,SNOMED CT:80544005	Canavan Disease, Familial Form;Spongy degeneration of central nervous system	germline;unknown	17	3499005	ACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAA
193302868	47612	NM_016938.4(EFEMP2):c.1189G>A (p.Ala397Thr)	EFEMP2	May 12, 2011	MedGen:C3280798,OMIM:614437;MedGen:CN033664,OMIM:219100	Autosomal recessive cutis laxa type 1B;Autosomal recessive cutis laxa type IA	germline	11	65867061	ACTGCCCTGCAGCAAATCAACAACGTCAGCGCCATGCTGGTCCTCGCCCGGCCGGTGACGG
118204096	16486	NM_000190.3(HMBS):c.518G>A (p.Arg173Gln)	HMBS	Jan 01, 1992	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119091432	ACTCTCCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTT
587783463	169261	NM_004380.2(CREBBP):c.1257G>A (p.Trp419Ter)	CREBBP	Feb 08, 2013	MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:45582004	Rubinstein-Taybi syndrome	germline	16	3792054	TGCATCTTCACGACAAATCATCTCTCATTGGAAGAACTGCACACGACATGACTGTCCTGTT
148660051	195093	NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A	May 18, 2017	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:C3151138,OMIM:613809;MedGen:C3151138,OMIM:613809;MedGen:C1848634,OMIM:276901;MedGen:C1848634,OMIM:276901;MedGen:CN517202	Retinitis pigmentosa;Retinitis pigmentosa 39;Retinitis pigmentosa 39;Usher syndrome, type 2A;Usher syndrome, type 2A;not provided	germline;paternal;unknown	1	215790168	TTAAAAAGAATGACCCGGTGCCAGTAAAATGCTGTGAGACTGAACTTATTCCAAAGAGCCA
121909209	22906	NM_000358.2(TGFBI):c.1664G>A (p.Arg555Gln)	TGFBI	Jan 01, 2012	Gene:982,MedGen:C1562894,OMIM:602082,Orphanet:ORPHA98960,SNOMED CT:417065002	Thiel-Behnke corneal dystrophy	germline	5	136056781	AAGCCTTCCGAGCCCTGCCACCAAGAGAACGGAGCAGACTCTTGGGTAAAGACCAACTTAA
9940825	427028	NM_001171.5(ABCC6):c.1245G>A (p.Val415=)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16198114	GGTGGGTGATGTGGTCAATCTGGTGTCCGTGGACGTGCAGCGGCTGACCGAGAGCGTCCTC
28941778	18529	NM_024426.4(WT1):c.1390G>A (p.Asp464Asn)	WT1	Jan 28, 2013	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002;MedGen:C0950121,OMIM:194080,Orphanet:ORPHA220,SNOMED CT:236385009	Diffuse mesangial sclerosis;Drash syndrome	germline	11	32392014	AAAACTTGTCAGCGAAAGTTCTCCCGGTCCGACCACCTGAAGACCCACACCAGGACTCATA
672601317	171722	NM_000492.3(CFTR):c.830G>A (p.Trp277Ter)	CFTR	Oct 01, 2013	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	unknown	7	117536634	AAAATATCCAATCTGTTAAGGCATACTGCTGGGAAGAAGCAATGGAAAAAATGATTGAAAA
3218713	29127	NM_000257.3(MYH7):c.746G>A (p.Arg249Gln)	MYH7	Aug 01, 2017	MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23431468	CTCTTCCATCTCTCCAGGGGAAATTCATTCGAATTCATTTTGGGGCAACAGGAAAGTTGGC
879254433	245413	NM_000527.4(LDLR):c.191-1G>A	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000;MedGen:CN118841	Familial hypercholesterolemia;Familial hypercholesterolemias	germline	19	11102663	GAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCA
587784425	168826	NM_005445.3(SMC3):c.1964G>A (p.Gly655Asp)	SMC3	Apr 01, 2015	MedGen:C1853099,OMIM:610759	Cornelia de Lange syndrome 3	germline	10	110596398	ACAGACCTATTACATATGTTTTGTTTATAGGTGACCAAGTCAGCCATCGGGGTGCTCTAAC
104886182	35861	NM_000495.4(COL4A5):c.2431G>A (p.Gly811Arg)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108614946	GTTGGACCAAATGGACAACCTGGACCAATGGGACCTCCTGGGCTGCCAGGAATAGGTGTTC
179489	67720	NM_000218.2(KCNQ1):c.502G>A (p.Gly168Arg)	KCNQ1	Jul 19, 2017	MedGen:CN230736;MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C0035828,OMIM:192500,Orphanet:ORPHA101016,SNOMED CT:20852007;MedGen:CN517202	Cardiovascular phenotype;Congenital long QT syndrome;Long QT syndrome;Long QT syndrome 1;not provided	germline	11	2570652	CTGCAGGAGATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCG
587776927	48153	NM_019032.5(ADAMTSL4):c.79-1G>A	ADAMTSL4	Mar 01, 2010	MedGen:C2673634,OMIM:225100	Ectopia lentis, isolated autosomal recessive	germline	1	150552897	CCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCT
-1	481720	NM_002317.6(LOX):c.1035+1G>A	LOX	Dec 26, 2017	MedGen:CN517202	not provided	germline	5	122074012	AGGCGATTTGCATGTACTGCACACACACAGGTATGTTGGCACCCTGAAATCCAGAACCTCA
387906419	24608	m.7497G>A	MT-TS1	Jan 01, 2003	MedGen:C4016627	Exercise intolerance, muscle pain, and lactic acidemia	germline	MT	7497	CCCCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTTTTTCAAAAAGGTATTAG
121913008	31851	NM_001943.4(DSG2):c.137G>A (p.Arg46Gln)	DSG2	Oct 03, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:C1857777,OMIM:610193;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 10;not provided	germline	18	31519858	AGCTGCTTCCTAAACATCCTCATTTAGTGCGGCAAAAGCGCGCCTGGATCACCGCCCCCGT
797045047	480559	NM_007327.3(GRIN1):c.1858G>A (p.Gly620Arg)	GRIN1	Jan 09, 2018	MedGen:C3280282,OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	germline	9	137162510	TCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTG
199472726	67777	NM_000218.2(KCNQ1):c.815G>A (p.Gly272Asp)	KCNQ1	Jul 20, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2572880	TGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTGTACCT
1057517835	360353	NM_003244.3(TGIF1):c.269G>A (p.Arg90His)	TGIF1	Jun 22, 2015	MedGen:CN517202	not provided	germline	18	3457390	TTCAGGTCTGTAACTGGTTCATCAACGCCCGCCGCAGGCTCCTCCCTGACATGCTGAGAAA
770551610	226598	NM_006060.5(IKZF1):c.485G>A (p.Arg162Gln)	IKZF1	Aug 25, 2016	MedGen:C4225173,OMIM:616873,Orphanet:ORPHA317473	Immunodeficiency, common variable, 13	germline	7	50382603	CCTCATTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCC
80356482	211810	NM_000151.3(G6PC):c.562G>A (p.Gly188Ser)	G6PC	Oct 17, 2016	MedGen:C2919796,OMIM:232200;MedGen:CN517202	Glycogen storage disease type 1A;not provided	germline	17	42909418	CCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGGGCTGATCTGACTCCCTTCCTTCTC
886041353	264611	NM_000062.2(SERPING1):c.52-1G>A	SERPING1	Sep 21, 2016	MedGen:CN517202	not provided	germline	11	57599878	AAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACC
886043392	270673	NM_000023.3(SGCA):c.747+1G>A	SGCA	Mar 03, 2016	MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62	Limb-girdle muscular dystrophy, type 2D	germline	17	50169255	TTCCGCGTTGACTGGTGCAATGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGG
121909389	16345	NM_001174089.1(SLC4A11):c.1343G>A (p.Gly448Asp)	SLC4A11	Mar 01, 2008	MedGen:C0544008	Corneal endothelial dystrophy	germline	20	3230587	TGGACTTCAACTCCTTCTACGCATGGACGGGCCTGTGGAATAGTTTCTTCCTTGCGCTTTA
886041195	264889	NM_000397.3(CYBB):c.1272G>A (p.Trp424Ter)	CYBB	Oct 14, 2016	MedGen:CN517202	not provided	germline	X	37805126	ACCCTTCGCATCCATTCTCAAGTCAGTCTGGTACAAATATTGCAATAACGCCACCAATCTG
1057524307	369315	NM_022726.3(ELOVL4):c.506G>A (p.Trp169Ter)	ELOVL4	Aug 28, 2017	MedGen:CN517202	not provided	germline	6	79921660	TGTATCATCACTGTACGATGTTTACCTTGTGGTGGATTGGAATTAAGTGGGTTGCAGGAGG
863224192	211322	NM_015713.4(RRM2B):c.599G>A (p.Gly200Glu)	RRM2B	Mar 23, 2012	MedGen:CN517202	not provided	germline	8	102218899	TTGCTGCTGTAGAAGGAGTTTTCTTCTCAGGATCTTTTGCTGCTATATTCTGGCTAAAGAA
375879489	22832	NM_004482.3(GALNT3):c.1524+5G>A	GALNT3	Jun 01, 2004	MedGen:C1876187,OMIM:211900,OMIM:610233,Orphanet:ORPHA306661	Tumoral calcinosis, familial, hyperphosphatemic	germline	2	165754927	ACCTTAATCCTGTTATATCTGGATACGTGAGTATTTTCCTGTTCCTTTTTTAATTAATATA
587782590	152331	NM_000059.3(BRCA2):c.425+1G>A	BRCA2	Oct 02, 2015	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32325185	TCCACTTCTAAATTCTTGTCTTAGTGAAAGGTATGATGAAGCTATTATATTAAAATATTTA
878853281	214800	NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter)	FRRS1L	Aug 25, 2016	Human Phenotype Ontology:HP:0002072,MedGen:C0008489,Orphanet:ORPHA306715;MedGen:C4310770,OMIM:616981;Human Phenotype Ontology:HP:0002448,MedGen:C1838578;Human Phenotype Ontology:HP:0001250,MedGen:C0036572	Chorea;Epileptic encephalopathy, early infantile, 37;Progressive encephalopathy;Seizures	germline;inherited	9	109141360	TGCATTTGAGTTGGTATTATCTGTTTGCTTGGGGTCCAGCCATTCAGGGTAAGCTTACATT
121908849	21589	NM_003722.4(TP63):c.797G>A (p.Arg266Gln)	TP63	Oct 05, 2016	MedGen:C1863204,OMIM:103285,Orphanet:ORPHA978;MedGen:C1858562,OMIM:604292;MedGen:CN517202	ADULT syndrome;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;not provided	germline	3	189866712	GACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGT
370828455	205775	NM_015346.3(ZFYVE26):c.4181G>A (p.Trp1394Ter)	ZFYVE26	Apr 23, 2014	MedGen:C1849128,OMIM:270700,Orphanet:ORPHA100996	Spastic paraplegia 15	germline	14	67782971	GGCAGAGTCTGGCAGTGAATCTCTGTGGTTGGGCCAGTCTTTCTACCGTTCTCCTGGGCCT
121912939	99796	NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg)	COL6A1	Jun 16, 2017	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090;MedGen:CN517202	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not provided	germline	21	45989617	CCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAA
776217028	434329	NM_000527.4(LDLR):c.2089G>A (p.Ala697Thr)	LDLR	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120471	ATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGG
724159946	171929	NM_001987.4(ETV6):c.1106G>A (p.Arg369Gln)	ETV6	Mar 03, 2015	Human Phenotype Ontology:HP:0004377,MeSH:D019337,MedGen:C0376545,SNOMED CT:129154003;MedGen:CN130080;MedGen:C4015537,OMIM:616216	Hematologic neoplasm;Thrombocytopenia;Thrombocytopenia 5	germline	12	11884541	GATGGGAGGACAAAGAATCCAAAATATTCCGGATAGTGGATCCCAACGGACTGGCTCGACT
3814290	47011	NM_181882.2(PRX):c.1951G>A (p.Asp651Asn)	PRX	Nov 01, 2012	MedGen:C3540453,OMIM:614895,Orphanet:ORPHA99952;MedGen:CN517202	Charcot-Marie-Tooth disease, demyelinating, type 4f;not provided	germline	19	40396401	CTCCCGAAGGTGCCCGAGATGGCTGTGCCCGATGTGCACCTCCCGGAAGTGCAGCTCCCGA
104894401	32056	NM_004004.5(GJB2):c.428G>A (p.Arg143Gln)	GJB2	Feb 16, 2017	MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:CN517202	Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;not provided	germline;unknown	13	20189154	GGTGGACCTACACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGCCTTCATGTACGT
727503204	174779	NM_000256.3(MYBPC3):c.1351+1G>A	MYBPC3	Dec 19, 2016	Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Cardiomyopathy;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy	germline	11	47343020	AGAAGTGTAGCACGGAGCTCTTTGTGAAAGGTGGGCCTGGGACCTGAGGATGTGGGAACCT
121917721	15247	NM_000285.3(PEPD):c.826G>A (p.Asp276Asn)	PEPD	Sep 11, 2017	MedGen:C0268532,OMIM:170100;MedGen:CN517202	Prolidase deficiency;not provided	germline	19	33401862	GCCCTGCCTTCCTCTCTCCGCAGCCTGTTCGACATGGGCGGTGAGTATTACTGCTTCGCTT
267607175	15062	NM_001006657.1(WDR35):c.2623G>A (p.Ala875Thr)	WDR35	May 24, 2017	MedGen:C3150874,OMIM:613610;MedGen:CN169374	Cranioectodermal dysplasia 2;not specified	germline	2	19933469	ATGTTTGTCAGAGTTGGAATGTGTGAACAAGCAGTGACTGCATTTTTGAAATGTAGTCAAC
397508216	67933	NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117559558	GAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGCACCATTAAAGAAAATAT
587777286	132031	NM_000387.5(SLC25A20):c.576G>A (p.Trp192Ter)	SLC25A20	Dec 01, 2013	MedGen:C0342791,OMIM:212138,Orphanet:ORPHA159,SNOMED CT:238003000	Carnitine acylcarnitine translocase deficiency	germline	3	48859587	TAGTGGAATGTATTTCATGACATATGAATGGCTGAAAAATATCTTCACTCCGGAGGGAAAG
875989911	228151	NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr)	LDLR	Mar 25, 2016	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11107512	GGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGA
267606611	24690	m.9438G>A	MT-CO3	Oct 01, 1995	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	9438	CAAGGCCACCACACACCACCTGTCCAAAAAGGCCTTCGATACGGGATAATCCTATTTATTA
773954226	214269	NM_024790.6(CSPP1):c.3205+1G>A	CSPP1	Feb 23, 2015	MedGen:C3810212,OMIM:615636	Joubert syndrome 21	unknown	8	67179927	CATTATTGGAATCTGATAGTGCTTTTATTGGTGAGTATATTTATTTTATTAAGGCTATATT
121907932	18474	NM_024105.3(ALG12):c.437G>A (p.Arg146Gln)	ALG12	Jun 15, 2007	MedGen:C2931001,OMIM:607143,Orphanet:ORPHA79324,SNOMED CT:711155008	ALG12-congenital disorder of glycosylation	germline	22	49910466	TGCAGTTCCACCTGATGTTCTACTGCACGCGGACACTGCCCAATGTGCTGGCCCTGCCTGT
137853093	22700	NM_032387.4(WNK4):c.1684G>A (p.Glu562Lys)	WNK4	Feb 16, 2017	MedGen:C1840390,OMIM:614491,Orphanet:ORPHA88939	Pseudohypoaldosteronism type 2B	germline	17	42787485	AGTGTCTTCCCCCCTGAGCCTGAGGAGCCAGAGGCAGACCAGCACCAGCCCTTCCTTTTCC
1057518215	359831	NM_016628.4(WAC):c.1556+1G>A	WAC	Nov 08, 2016	MedGen:CN517202	not provided	germline	10	28614686	TGTCTCTCCTCGAAGTCTTCAGCGCTCAAGGTAGGTTGATATTGTATATTGAGACCACATT
1052471595	431000	NM_000263.3(NAGLU):c.934G>A (p.Asp312Asn)	NAGLU	Jun 07, 2017	MedGen:C0086648,OMIM:252920,Orphanet:ORPHA79270,SNOMED CT:59990008	Mucopolysaccharidosis, MPS-III-B	inherited	17	42541119	GAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCT
-1	481662	NM_003494.3(DYSF):c.5904G>A (p.Trp1968Ter)	DYSF	Nov 16, 2017	MedGen:CN517202	not provided	germline	2	71679193	CCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAG
794726720	187773	NM_001165963.1(SCN1A):c.3615G>A (p.Trp1205Ter)	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166013834	TGTGGAAGAAGGCAGAGGAAAACAATGGTGGAACCTGAGAAGGACGTGTTTCCGAATAGTT
267607523	77360	NM_002055.4(GFAP):c.214G>A (p.Glu72Lys)	GFAP	Jan 08, 2015	MedGen:C0270726,OMIM:203450,Orphanet:ORPHA58,SNOMED CT:81854007;MedGen:CN517202	Alexander's disease;not provided	germline	17	44915273	TTCAAGGAGACCCGGGCCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCTTTGCCA
45517105	75968	NM_000548.4(TSC2):c.337-1G>A	TSC2	Aug 10, 2017	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000;MedGen:CN517202	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	germline	16	2054295	GCTCTGCTGATCCTGTGGCTTTTGTCTTTAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTC
28937873	20571	NM_014249.3(NR2E3):c.932G>A (p.Arg311Gln)	NR2E3	Aug 24, 2017	MedGen:C1849394,OMIM:268100,Orphanet:ORPHA53540;MedGen:C0339541;MedGen:CN239387;MedGen:CN517202	Enhanced s-cone syndrome;Goldmann-Favre syndrome;NR2E3-Related Disorders;not provided	germline	15	71813573	GTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTTGC
80338884	34216	NM_003227.3(TFR2):c.1330G>A (p.Ala444Thr)	TFR2	Jun 09, 2011	MedGen:C1858664,OMIM:604250,Orphanet:ORPHA225123	Hemochromatosis type 3	not provided	7	100629313	GATGCATGGGGCCCAGGAGCAGCTAAATCCGCTGTGGGGACGGCTATACTCCTGGAGCTGG
397517341	55153	NM_022124.5(CDH23):c.5712+1G>A	CDH23	Feb 20, 2012	MedGen:C1832845,OMIM:601067	Usher syndrome, type 1D	germline	10	71785101	CGCGAGCGGGCCTTCTTCATCAATGCCACGGTAGGGCCTAGACTGACCCCAGGGAGCTTCC
104894175	21977	NM_005029.3(PITX3):c.38G>A (p.Ser13Asn)	PITX3	Jun 01, 1998	MedGen:C0009691	Cataract, congenital	germline	10	102232043	TCGGCCTGCTCAGCGAGGCAGAGGCCCGGAGCCCTGCCCTGTCGCTGTCAGACGCTGGCAC
879253716	25038	NM_000425.4(L1CAM):c.1939+5G>A	L1CAM	Jan 01, 2004	MedGen:C4017784	Hydrocephalus, X-linked, with hirschsprung disease	germline	X	153867795	AGAAGACCACAATGCCCCCATTGAGAGTAAGAGGCTTGAGCTCAGTGCCACCCCACCGTCA
80356516	34144	NM_001457.3(FLNB):c.5500G>A (p.Gly1834Arg)	FLNB	Oct 09, 2008	MedGen:C1835564,OMIM:150250	Larsen syndrome, dominant type	not provided	3	58145995	GTTTCTGCATACGGTCCAGGCCTCGTGTATGGAGTGGCCAACAAAACTGCCACCTTCACCA
863224149	212005	NM_000284.3(PDHA1):c.292-1G>A	PDHA1	Aug 08, 2014	MedGen:CN517202	not provided	germline	X	19351280	TGCCTCATAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGC
61754382	105415	NM_000372.4(TYR):c.1037-1G>A	TYR	Aug 12, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89227822	CATATTTTTTTCATTTTTTTTTAATGAACAGGATTTGCTAGTCCACTTACTGGGATAGCGG
121434457	24663	m.5650G>A	MT-TA	Oct 01, 2003	MedGen:C4016604	Myotonic dystrophy-like myopathy	germline	MT	5650	AACGCAAATCAGCCACTTTAATTAAGCTAAGCCCTTACTAGACCAATGGGACTTAAACCCA
1060502202	402515	NM_023036.4(DNAI2):c.876G>A (p.Trp292Ter)	DNAI2	Jul 26, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	17	74301057	TCGCCCCTCCTCCCACCAGGTCATGTGGTGGGACATCCGAAAGATGAGCGAGCCCACTGAA
121918317	21765	NM_003165.3(STXBP1):c.1631G>A (p.Gly544Asp)	STXBP1	Jun 01, 2008	MedGen:C2677326,OMIM:612164	Early infantile epileptic encephalopathy 4	germline	9	127682489	GCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTA
-1	459279	NM_000118.3(ENG):c.1235G>A (p.Cys412Tyr)	ENG	May 22, 2017	MedGen:C0039445,OMIM:187300,Orphanet:ORPHA774,SNOMED CT:21877004	Osler hemorrhagic telangiectasia syndrome	germline	9	127819937	AGTTTGTCTTGCGCAGTGCTTACTCCAGCTGTGGCATGCAGGTGTCAGCAAGTATGATCAG
761780097	16706	NM_000785.3(CYP27B1):c.589+1G>A	CYP27B1	Nov 01, 1999	MedGen:C0268689,OMIM:264700,Orphanet:ORPHA289157,SNOMED CT:67049004	Vitamin D-dependent rickets, type 1	germline	12	57765296	CGGGGGAATTTTACAAGTTCGGACTGGAAGGTGAGTCCCAGGACAGAGCTGGGCAGGCGTC
104894729	27463	NM_000363.4(TNNI3):c.575G>A (p.Arg192His)	TNNI3	Aug 21, 2017	Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;MedGen:C1861861,OMIM:115210;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Cardiomyopathy;Familial restrictive cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided	germline	19	55151892	TCCAGGAAAACCGGGAGGTGGGAGACTGGCGCAAGAACATCGATGCACTGAGTGGAATGGA
1085307205	414139	NM_001204.6(BMPR2):c.296G>A (p.Cys99Tyr)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202467567	GAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCA
431905514	102921	NM_001044.4(SLC6A3):c.1031+1G>A	SLC6A3	Jul 12, 2017	MedGen:C2751067,OMIM:613135,Orphanet:ORPHA238455	Infantile Parkinsonism-dystonia	germline	5	1416097	CTACAACAAGTTCACCAACAACTGCTACAGGTGAGCCCCTAGCAGGGCCAGGCAGGGGCCT
121434363	17172	NM_001128225.2(SLC39A13):c.221G>A (p.Gly74Asp)	SLC39A13	Jan 01, 2008	MedGen:C2676510,OMIM:612350,Orphanet:ORPHA157965	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like	germline	11	47410315	GGCTGGACACCTGGATCTGCTCCCTCCTGGGTTCCCTCATGGTGGGGCTCAGTGGGGTCTT
397518023	57707	NM_206933.2(USH2A):c.5858-1G>A	USH2A	Jan 18, 2012	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216070293	TTTCCCTATTTTCTCTTTTATTCCTTCACAGCTCCACAAAGTGTGCCAACTCCCTCAAGAG
104894277	15520	NM_000317.2(PTS):c.166G>A (p.Val56Met)	PTS	Jan 01, 1998	MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13	6-pyruvoyl-tetrahydropterin synthase deficiency	germline	11	112230210	TTTTTTGTATTTTGTTTTCTTTCCATAGTTGTGGTGACAGTACATGGAGAGGTATGTGCAG
1064794000	407383	NM_006766.4(KAT6A):c.4645G>A (p.Gly1549Ser)	KAT6A	May 12, 2017	MedGen:CN517202	not provided	germline	8	41933575	TCAGACCACTCTCAGCAGGTGGTGGACAGCGGCTTCAGTGACCTGGGCAGCATTGAGAGCA
28930068	32662	NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His)	CACNA1S	Mar 01, 2017	MedGen:C3714580,OMIM:170400;MedGen:CN517202	Hypokalemic periodic paralysis 1;not provided	germline	1	201053538	GCATCTCCAGCGCCTTCTTCCGCCTGTTCCGTGTCATGAGGCTGATCAAGCTGCTGAGCCG
104886157	35815	NM_000495.4(COL4A5):c.2023G>A (p.Gly675Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108601467	CCTGGCTTGCCTGGTAACCCAGGCAGAGATGGTGATGTAGGTCTTCCAGGTATGTGAGGAA
121918404	31657	NM_001976.4(ENO3):c.1121G>A (p.Gly374Glu)	ENO3	Aug 01, 2001	MedGen:C2752027,OMIM:612932,Orphanet:ORPHA99849	Glycogen storage disease type 13	germline	17	4956626	GCTGGGGGGTGATGGTGAGCCACCGCTCTGGGGAGACTGAGGACACATTCATTGCTGACCT
121434538	32865	NM_031226.2(CYP19A1):c.628G>A (p.Glu210Lys)	CYP19A1	Jan 01, 2004	MedGen:C0878680,OMIM:613546,Orphanet:ORPHA91	Aromatase deficiency	germline	15	51222349	AACACGCTCTTCTTGAGGATCCCTTTGGACGGTACTGAAATTTTCACTCTCACATCTTGAC
1135401790	424640	NM_014795.3(ZEB2):c.3170G>A (p.Cys1057Tyr)	ZEB2	Jan 06, 2017	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	de novo	2	144389926	GGCTTCACTCGGGCGAGAAGCCCTATCAGTGTGATAAATGTGGCAAGCGCTTCTCACACTC
-1	478383	NM_001042492.2(NF1):c.7869+1G>A	NF1	Feb 05, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31357091	AAGATCCAGGCGCTGCTTCTTACTGTTCTAGTAAGGATTTCCCCTTTTTGAGTCCCCCACC
267606681	23339	NM_139343.2(BIN1):c.461G>A (p.Arg154Gln)	BIN1	Feb 09, 2010	MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED CT:240081004	Autosomal recessive centronuclear myopathy	germline	2	127068982	GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTACGAGTCCCTTCAAACTGCCAA
587779450	106884	NM_000090.3(COL3A1):c.2771G>A (p.Gly924Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004091	CTGGCAGCCCTGGAGTGTCTGGACCAAAAGGTGATGCTGGCCAACCAGGAGAGAAGGGATC
200656442	106526	NM_144672.3(OTOA):c.1352G>A (p.Gly451Asp)	OTOA	Sep 01, 2013	MedGen:C1846896,OMIM:607039	Deafness, autosomal recessive 22	germline	16	21715016	TGCTGTCTTTCTACAATGTCAGCCAGATGGGCGCACTGCTGGCTGGGGTCAGCACCCAGGC
587776403	36066	NM_000495.4(COL4A5):c.4297+1G>A	COL4A5	Nov 21, 2016	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	germline	X	108686130	AAGGAGACCCAGGTCTGCCAGGACAGCCAGGTAAGACAAGTAAAACATGCTGTTGGTGGAG
371669862	270910	NM_001006657.1(WDR35):c.1288+1G>A	WDR35	Mar 22, 2016	MedGen:C3150874,OMIM:613610	Cranioectodermal dysplasia 2	germline	2	19960553	CACCCTTGGATCCCAAATACATTGATATTGGTAAGGAAATGTTGATATTTATTTCTTTTCC
387906425	24736	m.13730G>A	MT-ND5	Sep 19, 2013	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED CT:58610003	Leber's optic atrophy	germline	MT	13730	AACGCCTGGCAGCCGGAAGCCTATTCGCAGGATTTCTCATTACTAACAACATTTCCCCCGC
-1	440851	NM_000297.3(PKD2):c.603G>A (p.Trp201Ter)	PKD2	May 03, 2017	MedGen:CN517202	not provided	germline	4	88019465	TTTTCTTCATTATTATTTTAAAGGTCTCTGGGGAACAAGACTCATGGAGGAAAGCAGCACT
770185023	264652	NM_014714.3(IFT140):c.1010-1G>A	IFT140	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004;MedGen:CN517202	Jeune thoracic dystrophy;not provided	germline;paternal	16	1586276	CTGTTCACATGCAGTTTGTTTCTACCTGTAGGTCTTCTGGCCGCTGGTACCGACAGAGGGC
80358211	20046	NM_153212.2(GJB4):c.35G>A (p.Gly12Asp)	GJB4	Apr 01, 2003	MedGen:CN258420,OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	germline	1	34761289	ACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTGAGCCG
878855318	243869	NM_001972.3(ELANE):c.597+1G>A	ELANE	Sep 18, 2015	MedGen:CN517202	not provided	germline	19	855795	GTGAGGGGCCGGCAGGCCGGCGTCTGTTTCGTACGTGCCCTGGGTGTCCCTCTGCTCCCCA
120074132	18007	NM_000271.4(NPC1):c.2873G>A (p.Arg958Gln)	NPC1	Jun 01, 2001	MedGen:C3179455,OMIM:257220	Niemann-Pick disease type C1	germline	18	23539393	ACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCAA
786201014	181523	NM_017831.3(RNF125):c.336G>A (p.Met112Ile)	RNF125	Mar 11, 2015	MedGen:C4015710,OMIM:616260	Tenorio syndrome	germline	18	32042196	TGTTTTTATGTAGGTTTGCCTCAGTGAAATGAGGGCACATATTCGGACTTGTCAGAAGTAC
796052127	200982	NM_203290.3(POLR1C):c.326G>A (p.Arg109His)	POLR1C	Jul 07, 2015	MedGen:C4225305,OMIM:616494	Leukodystrophy, hypomyelinating, 11	germline	6	43519782	CCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCC
137853124	20022	NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter)	RPGRIP1	May 01, 2001	MedGen:C1854260,OMIM:613826	Leber congenital amaurosis 6	germline	14	21294785	AAGATCACATGTTGGTGAAGGAGCTTTCTTGGAAGCAACAGGATGAGATCAAAAGGTACTT
730880566	179257	NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp)	MYBPC3	Apr 05, 2013	MedGen:CN517202	not provided	germline	11	47337579	AGACCAGAGCTGCCACCTCCCCTGAGCCAGGCTACATCCTGGAGCGCAAGAAGAAGAAGAG
202022024	431406	NM_012478.3(WBP2):c.478G>A (p.Ala160Thr)	WBP2	Aug 24, 2017	MedGen:CN417138,OMIM:617639	DEAFNESS, AUTOSOMAL RECESSIVE 107	germline	17	75847850	AGCGGGGCCTATGTCTATCCCCCGCCAGTCGCCAATGGAATGTACCCCTGCCCTCCTGGCT
797045082	205141	NM_001164712.1(AMT):c.870G>A (p.Trp290Ter)	AMT	Oct 16, 2014	Human Phenotype Ontology:HP:0008288,MedGen:C0751748,OMIM:605899,Orphanet:ORPHA407,SNOMED CT:237939006	Non-ketotic hyperglycinemia	germline	3	49418978	CACTACACCTGTGGAGGGCAGCCTCAGTTGGACACTGGGTGAGCTGGGCCAGCACTAAAGG
786204859	187355	NM_000314.6(PTEN):c.407G>A (p.Cys136Tyr)	PTEN	May 23, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1959582,OMIM:601728,Orphanet:ORPHA306498;MedGen:CN517202	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	germline	10	87933166	CTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTACATCGGGGCAAATTTTT
794726862	190164	NM_006744.3(RBP4):c.217G>A (p.Ala73Thr)	RBP4	Apr 23, 2015	MedGen:C4225330,OMIM:616428	Microphthalmia, isolated, with coloboma 10	germline	10	93600698	TTCTCCGTGGACGAGACCGGCCAGATGAGCGCCACAGCCAAGGGCCGAGTCCGTCTTTTGA
398124602	102513	NM_000056.4(BCKDHB):c.952-1G>A	BCKDHB	Aug 23, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	6	80273134	TTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATC
587779512	106957	NM_000090.3(COL3A1):c.2105G>A (p.Gly702Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188999367	CAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCA
587776774	27712	NM_002734.4(PRKAR1A):c.892-1G>A	PRKAR1A	Sep 14, 2012	MedGen:C4016392	Adrenocortical tumor, somatic	somatic	17	68529919	TTTGTTTAGCTTTTTGGTGATTTTATTATAGGGGTCAGCTGCTGTGCTACAACGTCGGTCA
1064794533	409653	NM_020988.2(GNAO1):c.709G>A (p.Glu237Lys)	GNAO1	Aug 30, 2017	MedGen:CN517202	not provided	germline	16	56336846	GCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCC
137852346	25451	NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)	G6PD	Dec 09, 2013	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD AVEIRO	germline	X	154533634	TGATGCAGAACCACCTACTGCAGATGCTGTGTCTGGTGGCCATGGAGAAGCCCGCCTCCAC
879255056	246383	NM_000527.4(LDLR):c.1859G>A (p.Trp620Ter)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120105	CCTTGCTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAG
1060505034	404664	NM_001025.4(RPS23):c.200G>A (p.Arg67Lys)	RPS23	Aug 11, 2017	MedGen:CN241840,OMIM:617412;MedGen:CN517202	MacInnes syndrome;not provided	de novo;germline	5	82276483	TTGAAGCCAAACAGCCAAATTCTGCCATTAGGAAGTGTGTAAGGGTCCAGCTGATCAAGAA
-1	481109	NM_014585.5(SLC40A1):c.541G>A (p.Asp181Asn)	SLC40A1	Jul 15, 2013	MedGen:C1853733,OMIM:606069,Orphanet:ORPHA139491	Hemochromatosis type 4	germline	2	189565573	CTAGATATGAATGCCACAATACGAAGGATTGACCAGTTAACCAACATCTTAGCCCCCATGG
749968109	204233	NM_052859.3(RFT1):c.1325G>A (p.Arg442Gln)	RFT1	Dec 01, 2012	MedGen:C2677590,OMIM:612015,Orphanet:ORPHA244310	Congenital disorder of glycosylation type 1N	germline	3	53092502	TCTTGGCCAACTGCTTTAACATGGGCATTCGGATCACGCAGAGCCTTTGCTTCATCCACCG
794727982	196363	NM_000540.2(RYR1):c.12612G>A (p.Trp4204Ter)	RYR1	Aug 15, 2014	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN031421,OMIM:145600	Central core disease;Malignant hyperthermia, susceptibility to, 1	germline	19	38561442	CGAGATCTCAGAGACCAACCGCGCCCAGTGGGAGATGCCCCAGGTCAGGGAACCCGCGCGC
786201041	183060	NM_000314.6(PTEN):c.1026+1G>A	PTEN	May 26, 2017	MedGen:CN072330,OMIM:158350;MedGen:C0027672,SNOMED CT:699346009	Cowden syndrome 1;Hereditary cancer-predisposing syndrome	germline	10	87961119	GCCAACCGATACTTTTCTCCAAATTTTAAGGTCAGTTAAATTAAACATTTTGTGGGGGTTG
398123794	100240	NM_003494.3(DYSF):c.5509G>A (p.Asp1837Asn)	DYSF	Sep 04, 2012	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71669191	GACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCG
1131691099	420782	NM_001042492.2(NF1):c.2088G>A (p.Trp696Ter)	NF1	Dec 22, 2015	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31226521	ACTAGAAGTGGCCCTGTACATGTTTCTGTGGAACCCTGACACTGAAGCTGTTCTGGTTGCC
63751177	104054	NM_002087.3(GRN):c.911G>A (p.Trp304Ter)	GRN	May 25, 2017	MedGen:CN517202	not provided	germline	17	44351438	ATACCTGCTGCCGTCTACAGTCGGGGGCCTGGGGCTGCTGCCCTTTTACCCAGGTACCCAG
879254797	245996	NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11111571	CCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTT
587777638	153751	NM_178172.5(GPIHBP1):c.194G>A (p.Cys65Tyr)	GPIHBP1	Aug 01, 2012	MedGen:C4014767,OMIM:615947	Hyperlipoproteinemia, type ID	germline	8	143215025	AGCCCGCCTTGTCCCCAGTGCTGCTGCGGTGCTACACCTGCAAGTCCCTGCCCAGGGACGA
104886180	35860	NM_000495.4(COL4A5):c.2423G>A (p.Gly808Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108614938	AAGGTGATGTTGGACCAAATGGACAACCTGGACCAATGGGACCTCCTGGGCTGCCAGGAAT
121908891	21463	NM_003060.3(SLC22A5):c.1196G>A (p.Arg399Gln)	SLC22A5	Dec 04, 2012	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline	5	132390833	TGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGCCACTGCCCTCTTCCT
869312985	226851	NM_000048.3(ASL):c.175G>A (p.Glu59Lys)	ASL	Sep 09, 2016	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004;MedGen:CN517202	Argininosuccinate lyase deficiency;not provided	germline	7	66081965	CTGGAGAAGGCAGGGCTCCTCACCAAGGCCGAGATGGACCAGATACTCCATGGCCTAGACA
118203942	15923	NM_000046.3(ARSB):c.284G>A (p.Arg95Gln)	ARSB	Jul 25, 2013	MedGen:C0026709,OMIM:253200,Orphanet:ORPHA583;MedGen:CN517202	Mucopolysaccharidosis type VI;not provided	germline	5	78984965	ACTACACGCAGCCGCTGTGCACGCCGTCGCGGAGCCAGCTGCTCACTGGCCGCTACCAGGT
397514495	152034	NM_000546.5(TP53):c.542G>A (p.Arg181His)	TP53	Oct 06, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;Gene:553989,MedGen:C1835398,OMIM:151623;MedGen:CN517202	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;not provided	germline;unknown	17	7675070	AGGTTGTGAGGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGCAGCTGGG
63750579	33138	NM_000484.3(APP):c.2077G>A (p.Glu693Lys)	APP	Aug 01, 2010	MedGen:C2751536,OMIM:605714;MedGen:CN517202	Cerebral amyloid angiopathy, APP-related;not provided	germline	21	25891856	TCTTAATTTGTTTTCAAGGTGTTCTTTGCAGAAGATGTGGGTTCAAACAAAGGTGCAATCA
81002897	24387	NM_000059.3(BRCA2):c.631+1G>A	BRCA2	Aug 10, 2017	MedGen:C2675520,OMIM:612555;MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	germline;unknown	13	32326614	CACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAA
-1	485720	NM_001252634.1(THRB):c.1031G>A (p.Gly344Glu)	THRB	Feb 24, 2012	MedGen:C2937288,OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	germline	3	24127612	TGGCAGTGACACGGGGCCAGCTGAAAAATGGGGGTCTTGGGGTGGTGTCAGACGCCATCTT
778906552	195186	NM_000016.5(ACADM):c.443G>A (p.Arg148Lys)	ACADM	Oct 26, 2017	MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003;MedGen:CN517202	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	germline;unknown	1	75734846	ATGATCAACAAAAGAAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTGTGTGAG
146150511	59491	NM_002900.2(RBP3):c.3238G>A (p.Asp1080Asn)	RBP3	Jun 27, 2013	MedGen:C3715216,OMIM:615233	Retinitis pigmentosa 66	germline	10	47353508	AAGATCATGCACACGGATGCCATGATCATCGACATGAGGTCAGTGGCCAGGGGTCAGTGCT
137852885	17838	NM_032520.4(GNPTG):c.316G>A (p.Gly106Ser)	GNPTG	Jul 05, 2012	MedGen:C1854896,OMIM:252605,Orphanet:ORPHA423470	Mucolipidosis III Gamma	germline	16	1361954	TTCCGCTGGAACGCCTACAGTGGGATCCTCGGGTGAGTGGGGCCGGGGCAGGGATCCCAAA
119463995	18252	NM_001079802.1(FKTN):c.340G>A (p.Ala114Thr)	FKTN	May 01, 2009	MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	germline	9	105601319	TTCTGTGTTCCAAGAGACTTTACTGCATTTGCACTGCAGTATCACCTATGGAAGAATGAGG
864309643	200391	NM_015340.3(LARS2):c.1912G>A (p.Glu638Lys)	LARS2	Dec 10, 2015	MedGen:C3809105,OMIM:615300;MedGen:C3809105,OMIM:615300	Perrault syndrome 4;Perrault syndrome 4	germline	3	45516144	AAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATGAGTAAGTCCAAACACAACGGGG
63750391	33176	NM_000021.3(PSEN1):c.438G>A (p.Met146Ile)	PSEN1	Mar 01, 1998	MedGen:C1843013,OMIM:607822	Alzheimer disease, type 3	germline	14	73173665	TGCCATCATGATCAGTGTCATTGTTGTCATGACTATCCTCCTGGTGGTTCTGTATAAATAC
201553266	237087	NM_001271208.1(NEB):c.19944G>A (p.Ser6648=)	NEB	Aug 07, 2017	MedGen:C1850569,OMIM:256030;MedGen:CN517202	Nemaline myopathy 2;not provided	germline	2	151551738	GGCCCTTCATGCATACAAGCTCCAGAGTTCGGTGAGCAGTGAGAACTTGAGAGTGCCCAGC
119458971	17634	NM_000126.3(ETFA):c.346G>A (p.Gly116Arg)	ETFA	Nov 01, 1992	MedGen:C3278154	Glutaric acidemia IIA	germline	15	76292436	ACACACATCTGTGCTGGAGCATCTGCCTTCGGAAAGGTGAGAAGGTTGAGAATGTGGAATC
771721648	444076	NM_000083.2(CLCN1):c.2596-1G>A	CLCN1	Jan 05, 2016	MedGen:CN517202	not provided	germline	7	143351593	TACCCTCTTTTCCTTTCCCACTGCTCTTCAGCTACAGAAGGCCATTGAGGGGCACACCAAG
1057518149	359965	NM_003482.3(KMT2D):c.8366+1G>A	KMT2D	Oct 10, 2016	MedGen:CN517202	not provided	germline	12	49039221	CACGCCTTCCTCTATGGATGTGAACAGCCGGTGAGGCTCCAGGAGGTTCCCTGGGGGTAAA
1060499531	206635	NM_033409.3(SLC52A3):c.1293G>A (p.Trp431Ter)	SLC52A3	Mar 17, 2015	MedGen:CN029849,OMIM:211530	Brown-Vialetto-Van Laere syndrome 1	germline	20	761143	GCGCGACCTCAGCCGCAGCGCCCTCTTGTGGTGCGGGGCGGCGGTGCAGCTGGGCTCGCTG
80359814	31149	NM_006516.2(SLC2A1):c.272G>A (p.Gly91Asp)	SLC2A1	Jun 01, 2001	MedGen:CN030711,OMIM:606777	GLUT1 deficiency syndrome 1	germline	1	42931049	TCTCTGTGGGCCTTTTCGTTAACCGCTTTGGCCGGTAAGTAGGAGAGGTCCTGGCACTGCC
104894317	18840	NM_000372.4(TYR):c.1336G>A (p.Gly446Ser)	TYR	Dec 09, 2015	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89284924	GGTGATTTCTTTATTTCATCCAAAGATCTGGGCTATGACTATAGCTATCTACAAGATTCAG
267607024	20433	NM_015713.4(RRM2B):c.362G>A (p.Arg121His)	RRM2B	Apr 17, 2014	MedGen:C3150172;MedGen:CN187502	Mitochondrial DNA depletion syndrome 8B (MNGIE type);RRM2B-related mitochondrial disease	germline	8	102224978	TTAGTCAGGAGGTGCAGGTTCCAGAGGCTCGCTGTTTCTATGGCTTTCAAATTCTCATCGA
876657729	229706	NM_138691.2(TMC1):c.1677G>A (p.Trp559Ter)	TMC1	Feb 12, 2015	MedGen:CN043648,Orphanet:ORPHA87884	Nonsyndromic hearing loss and deafness	germline	9	72805492	TGTGAGGTTTTGCAATTATTGCTGGTGCTGGGACTTGGAGTATGGATATGTAAGTATGATG
121434473	24648	m.12183G>A	MT-TH	Apr 08, 2003	MedGen:CN069313	Pigmentary retinopathy and sensorineural deafness	germline	MT	12183	CCAAAACATCAGATTGTGAATCTGACAACAGAGGCTTACGACCCCTTATTTACCGAGAAAG
374664941	132024	NM_003638.2(ITGA8):c.1219G>A (p.Gly407Arg)	ITGA8	Feb 06, 2014	MedGen:C1619700,OMIM:191830	Renal adysplasia	germline	10	15644210	GTTTTATGTCTGTTTTTAGACATTGCCATCGGAGTGCCTTTTGCAGGCAAGGATCAAAGAG
140210148	65571	NM_052961.3(SLC26A8):c.260G>A (p.Arg87Gln)	SLC26A8	May 02, 2013	Gene:338331,MedGen:C1847540,OMIM:606766	Spermatogenic failure 3	germline	6	36012301	TTCCCTTCCTAGAATGGATGTGTATGTATCGATTAAAGGATTGGCTTCTGGGAGACTTACT
-1	480450	NM_000492.3(CFTR):c.3468+5G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117614718	ACTCCAGCATAGATGTGGATAGCTTGGTAAGTCTTATCATCTTTTTAACTTTTATGAAAAA
121909190	23024	NM_000474.3(TWIST1):c.556G>A (p.Ala186Thr)	TWIST1	Apr 01, 2007	MedGen:CN029978,OMIM:123100	Craniosynostosis 1	germline	7	19116766	AGCTATGTGGCTCACGAGCGGCTCAGCTACGCCTTCTCGGTCTGGAGGATGGAGGGGGCCT
-1	482083	NM_001271.3(CHD2):c.1052G>A (p.Trp351Ter)	CHD2	Nov 09, 2017	MedGen:CN517202	not provided	germline	15	92943068	TCAAGAAAAAAGAGGACGAAATCAAACAATGGTATATTTTCCATCATGGATTAAAGAAATG
45517102	59226	NM_000548.4(TSC2):c.336+1G>A	TSC2	Aug 23, 2016	MedGen:C1860707,OMIM:613254;MedGen:C0041341,Orphanet:ORPHA805,SNOMED CT:7199000	Tuberous sclerosis 2;Tuberous sclerosis syndrome	germline	16	2053453	GCTCTGCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGA
104894576	20667	NM_000154.1(GALK1):c.94G>A (p.Val32Met)	GALK1	Jul 01, 1995	MedGen:C0268155,OMIM:230200,Orphanet:ORPHA79237,SNOMED CT:124302001	Deficiency of galactokinase	germline	17	75765043	GAGGAGTTCGGGGCCGAGCCCGAGCTGGCCGTGTCAGCGCCGGGCCGCGTCAACCTCATCG
794726744	187770	NM_001165963.1(SCN1A):c.3705+1G>A	SCN1A	Dec 20, 2014	MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Severe myoclonic epilepsy in infancy	de novo	2	166013743	TTCATGATTCTCCTTAGTAGTGGTGCTCTGGTGAGTGAGATTAAGAAAAGGTGATACAGCA
587777592	152758	NM_020745.3(AARS2):c.1213G>A (p.Glu405Lys)	AARS2	Jun 10, 2014	MedGen:C4014588,OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	germline	6	44306367	GTTCAGATCGCCAACCTGGTGTCAGAGGACGAGGCAGCCTTCCTGGCCTCCCTGGAGCGGG
121909119	22418	NM_005506.3(SCARB2):c.533G>A (p.Trp178Ter)	SCARB2	Mar 05, 2015	MedGen:C0751779,OMIM:254900,Orphanet:ORPHA163696	Epilepsy, progressive myoclonic 4, with or without renal failure	germline	4	76179596	TTGTGACTCACACAGTTGACGAATTGCTCTGGGGCTACAAAGATGAAATCTTGTCCCTTAT
886041187	264137	NM_000094.3(COL7A1):c.3140-1G>A	COL7A1	Jan 10, 2017	MedGen:CN517202	not provided	germline	3	48587109	CCGCTTCAGTAACTTGTTCCCCTTCCTACAGTGTGCCCCCGTGGCCTGGCGGATGTGGTGT
207460003	24723	m.15498G>A	MT-CYB	Sep 01, 2000	MedGen:C1708371,OMIM:500000,Orphanet:ORPHA137675	Infantile histiocytoid cardiomyopathy	germline	MT	15498	CATTAACACTATTCTCACCAGACCTCCTAGGCGACCCAGACAATTATACCCTAGCCAACCC
121912444	29804	NM_000454.4(SOD1):c.13G>A (p.Ala5Thr)	SOD1	Mar 09, 2017	MedGen:C1862939,OMIM:105400;MedGen:CN517202	Amyotrophic lateral sclerosis type 1;not provided	germline	21	31659782	GGCGTGGCCTAGCGAGTTATGGCGACGAAGGCCGTGTGCGTGCTGAAGGGCGACGGCCCAG
786204707	186713	NM_138694.3(PKHD1):c.2810G>A (p.Trp937Ter)	PKHD1	Dec 29, 2014	MedGen:C0085548,OMIM:263200,Orphanet:ORPHA731,SNOMED CT:28770003;Human Phenotype Ontology:HP:0000113,MedGen:C0022680;Human Phenotype Ontology:HP:0000107,MedGen:C0022679;Human Phenotype Ontology:HP:0001714,MedGen:C0340279	Autosomal recessive polycystic kidney disease;Polycystic kidney dysplasia;Renal cyst;Ventricular hypertrophy	unknown	6	52043636	AAGGGTCAACTCCCTGTGTCCATTCTGTGTGGTACTCCATTGGTATGATTTGTCACTTGGC
371963034	429637	NM_000275.2(OCA2):c.1182+1G>A	OCA2	Apr 14, 2017	MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006	Tyrosinase-positive oculocutaneous albinism	germline	15	27989600	TTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCT
104894214	22336	NM_001814.5(CTSC):c.901G>A (p.Gly301Ser)	CTSC	Feb 01, 2001	MedGen:C0030360,OMIM:245000,Orphanet:ORPHA678,SNOMED CT:40158001	Papillon-Lefèvre syndrome	germline	11	88294497	GTGTGTTATTCATCTTCAGGCTGTGAAGGCGGCTTCCCATACCTTATTGCAGGAAAGTACG
104893614	24514	NM_001298.2(CNGA3):c.848G>A (p.Arg283Gln)	CNGA3	Jul 01, 1998	MedGen:C1857618,OMIM:216900	Achromatopsia 2	germline	2	98396018	TGAGGTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACAGAGAC
-1	445010	NM_001844.4(COL2A1):c.1268G>A (p.Gly423Asp)	COL2A1	Oct 30, 2017	MedGen:CN517202	not provided	germline	12	47987175	ACACCCCTCCCTTCTTCTCATGCCCACAGGGTGCTCCTGGCATTGCTGGTGCTCCTGGCTT
397517003	54205	NM_004572.3(PKP2):c.1688+1G>A	PKP2	May 30, 2017	MedGen:C0349788,Orphanet:ORPHA247,SNOMED CT:253528005,SNOMED CT:281170005;MedGen:CN517202	Arrhythmogenic right ventricular cardiomyopathy;not provided	germline	12	32841027	CATATTCTACAACGTCACTGGATGCCTAAGGTAATGCTACCTGTACCCTGCCCTGATAGAA
121912924	32265	NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu)	COL3A1	Dec 01, 1996	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189007546	GTGGTGACAAAGGTGAAACAGGTGAACGTGGAGCTGCTGGCATCAAAGGACATCGAGGATT
377767342	36164	NM_005359.5(SMAD4):c.988G>A (p.Glu330Lys)	SMAD4	Dec 04, 2012	na	JP and JP/HHT	not provided	18	51065455	CCTGAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAGGTAGGAGAGACATTTA
121907947	18984	NM_000062.2(SERPING1):c.1372G>A (p.Ala458Thr)	SERPING1	Aug 01, 1992	MedGen:C1862892,Orphanet:ORPHA100051,SNOMED CT:234620006	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	germline	11	57614450	GAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCC
368124046	208172	NM_000275.2(OCA2):c.1503+5G>A	OCA2	Oct 05, 2016	MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006;MedGen:CN517202	Tyrosinase-positive oculocutaneous albinism;not provided	germline	15	27983340	TTTCCAACCAAGAGCTGAGGAAGATGGTACGTACCAGCATGCTAGGGTTGCTTCCAGTAAA
121909123	99447	NM_001083962.1(TCF4):c.1733G>A (p.Arg578His)	TCF4	Apr 28, 2017	MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;MedGen:CN517202	Pitt-Hopkins syndrome;not provided	de novo;germline	18	55228993	AGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTT
199476203	47860	NM_207352.3(CYP4V2):c.1199G>A (p.Arg400His)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	not provided	4	186208973	GCCTTTTTCCTTCTGTTCCTTTATTTGCCCGTAGTGTTAGTGAAGATTGTGAAGTGGGTAA
121912606	17030	NM_182896.2(ARL13B):c.236G>A (p.Arg79Gln)	ARL13B	Aug 01, 2008	MedGen:C2676771,OMIM:612291	Joubert syndrome 8	germline	3	94003764	TCTTTGACTTGGGAGGTGGAATAAGAATTCGGGGAATCTGGAAGAATTACTATGCTGAATC
28940271	17897	NM_173076.2(ABCA12):c.4615G>A (p.Glu1539Lys)	ABCA12	Sep 15, 2003	MedGen:C1832550,OMIM:601277	Autosomal recessive congenital ichthyosis 4A	germline	2	214980608	ACAATCATTCTGTCAACGCACCACTTGGACGAGGCTGAAGTGCTGAGTGACCGCATCGCCT
28937875	20350	NM_170784.2(MKKS):c.155G>A (p.Gly52Asp)	MKKS	Feb 12, 2018	MedGen:C1858054,OMIM:605231	Bardet-Biedl syndrome 6	germline	20	10413360	GGCTGAAGCAGCTGCACAATGGCTTTGGAGGTTACGTGTGTACAACCTCACAGTCCTCAGC
886037724	248822	NM_177438.2(DICER1):c.5123G>A (p.Gly1708Glu)	DICER1	Nov 10, 2014	MedGen:CN072455,OMIM:601200	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	germline	14	95094129	CAGATTGTTACCAGCGCTTAGAATTCCTGGGAGATGCGATTTTGGACTACCTCATAACCAA
606231253	167357	NM_005228.4(EGFR):c.1283G>A (p.Gly428Asp)	EGFR	Oct 01, 2014	MedGen:C4015130,OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	germline	7	55157738	ATGCCTTTGAGAACCTAGAAATCATACGCGGCAGGACCAAGCAACAGTAAGTTGACCACAG
137852449	25335	NM_000132.3(F8):c.5882G>A (p.Trp1961Ter)	F8	Dec 01, 1993	MedGen:C0019069,OMIM:306700,SNOMED CT:28293008	Hereditary factor VIII deficiency disease	germline	X	154904022	TAGTAATGGCTCAGGATCAAAGGATTCGATGGTATCTGCTCAGCATGGGCAGCAATGAAAA
1131691686	421939	NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys)	ACVRL1	Feb 03, 2017	MedGen:C1838163,OMIM:600376;MedGen:CN517202	Hereditary hemorrhagic telangiectasia type 2;not provided	germline	12	51916122	AGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACT
113994093	34171	NM_002693.2(POLG):c.695G>A (p.Arg232His)	POLG	Nov 17, 2016	MedGen:C0751651,Orphanet:ORPHA68380;MedGen:CN517202	Mitochondrial diseases;not provided	germline	15	89330241	CCTGGTGCAGCCAGCGGCTGGTGGAAGAGCGTTACTCTTGGACCAGCCAGCTGTCGCCGGC
587776612	19806	NM_014795.3(ZEB2):c.-69-1G>A	ZEB2	Apr 15, 2008	MedGen:C1856113,OMIM:235730,Orphanet:ORPHA2152	Mowat-Wilson syndrome	germline	2	144517420	TGCCCACATTGTCGCTGTGTTTGGTTGCTAGATCGAGCCTGCGTGCTGCCGAAGCAGGGCG
72658182	441158	NM_000089.3(COL1A2):c.2296G>A (p.Gly766Ser)	COL1A2	Feb 07, 2017	MedGen:CN517202	not provided	germline	7	94421009	ATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAA
397514419	36418	NM_000060.4(BTD):c.1352G>A (p.Gly451Asp)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15645208	GGGTCTTTGATGGGCTTCACACAGTACATGGCACTTACTACATCCAAGTGTGTGCCCTGGT
397515810	51533	NM_000138.4(FBN1):c.4505G>A (p.Cys1502Tyr)	FBN1	Jun 19, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48468489	TGGATCCAACCACGTGCATCAGTGGGAACTGTGTCAACACTCCAGGCAGCTATATCTGTGA
794727534	193786	NM_003494.3(DYSF):c.3230G>A (p.Trp1077Ter)	DYSF	Nov 20, 2014	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71574253	AGGGCTGGGAGTACGCCTCTCTTTTTGGCTGGAAGTTCCACCTCGAGTACCGCAAGACAGA
67729041	413954	NM_000089.3(COL1A2):c.992G>A (p.Gly331Asp)	COL1A2	-	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	unknown	7	94409778	CCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGC
886044475	274756	NM_000070.2(CAPN3):c.2263+1G>A	CAPN3	Sep 23, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42410667	ACGAGATGCGAAATGCAGTCAACGACGCAGGTGCTGAGAAGGAAGGGGTGGCAGGGATGTG
386834078	71294	NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter)	VPS13B	May 05, 2016	MedGen:C0265223,OMIM:216550,Orphanet:ORPHA193,SNOMED CT:56604005;MedGen:CN517202	Cohen syndrome;not provided	germline;unknown	8	99384272	AGTTAATATTGACCCAATCTTATATACGTGGCTCATCTATCAGCCTCAGAAACGAACAAGT
121909752	31079	NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter)	GP1BB	Jul 15, 2000	MedGen:C1856447	Bernard-Soulier syndrome, type B	germline	22	19723980	TCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGA
387906725	38940	NM_000194.2(HPRT1):c.143G>A (p.Arg48His)	HPRT1	Jan 01, 2011	MedGen:C1845893;MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004	Lesch-nyhan syndrome, neurologic variant;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	germline	X	134475189	ATTCCTGATTTTATTTCTGTAGGACTGAACGTCTTGCTCGAGATGTGATGAAGGAGATGGG
63750624	96580	NM_000251.2(MSH2):c.484G>A (p.Gly162Arg)	MSH2	Jul 05, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome	germline	2	47410211	ATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGA
886044338	274305	NM_016239.3(MYO15A):c.6178-1G>A	MYO15A	Sep 08, 2016	MedGen:C1838263,OMIM:600316	Deafness, autosomal recessive 3	germline	17	18144496	TGTCTGCTCATGTGCCTGCCCTGTGTCTTAGGAACCTGCCTTTGGGATGCTGACAGTGCCC
690016566	171841	NM_005211.3(CSF1R):c.2294G>A (p.Gly765Asp)	CSF1R	Dec 18, 2014	Gene:8156,MedGen:C1857300,OMIM:221820	Hereditary diffuse leukoencephalopathy with spheroids	germline	5	150057312	TGCTTCACTTCTCCAGCCAAGTAGCCCAGGGCATGGCCTTCCTCGCTTCCAAGAATGTGAG
-1	482106	NM_016373.3(WWOX):c.132G>A (p.Trp44Ter)	WWOX	Dec 05, 2017	MedGen:CN517202	not provided	germline	16	78108447	TAACAGTCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGA
879255271	227683	NM_001136139.2(TCF3):c.1663G>A (p.Glu555Lys)	TCF3	Aug 21, 2017	MedGen:C4310786,OMIM:616941	Agammaglobulinemia 8, autosomal dominant	germline	19	1612357	CGGGAGAGGCGCATGGCCAATAACGCGCGGGAGCGGGTGCGCGTGCGGGATATTAACGAGG
80359080	67232	NM_000059.3(BRCA2):c.8363G>A (p.Trp2788Ter)	BRCA2	Sep 08, 2016	MedGen:C2675520,OMIM:612555	Breast-ovarian cancer, familial 2	germline	13	32370433	TTTCTGCTAACAGTACTCGGCCTGCTCGCTGGTATACCAAACTTGGATTCTTTCCTGACCC
104894507	33337	NM_000485.2(APRT):c.294G>A (p.Trp98Ter)	APRT	Jun 18, 2015	MedGen:C0268120,OMIM:614723	Adenine phosphoribosyltransferase deficiency	germline	16	88810450	GCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCCTCCTATTCCCTGGAGTACGGGAAGGTA
397514396	36390	NM_000060.4(BTD):c.934G>A (p.Gly312Ser)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15644790	CACCACCCAGTTCTGGGGATGACAGGAAGTGGCATACACACCCCTCTGGAGTCCTTTTGGT
74315455	18092	NM_000487.5(ARSA):c.302G>A (p.Gly101Asp)	ARSA	Feb 03, 2015	MedGen:C0023522,OMIM:250100,Orphanet:ORPHA512,SNOMED CT:396338004;MedGen:C0751279,Orphanet:ORPHA309271,SNOMED CT:24326000	Metachromatic leukodystrophy;Metachromatic leukodystrophy, adult type	germline;unknown	22	50627329	CTGGCGTCCTGGTGCCCAGCTCCCGGGGGGGCCTGCCCCTGGAGGAGGTGACCGTGGCCGA
587777546	150146	NM_001177701.2(IFT27):c.299G>A (p.Cys100Tyr)	IFT27	Jun 15, 2014	MedGen:C3889475,OMIM:615996	Bardet-Biedl syndrome 19	germline	22	36763972	ATGTGACCAATGAAGAATCCTTCAACAACTGCAGCAAGTGGCTGGAGAAGGCTCGGTCACA
730880026	178366	NM_006000.2(TUBA4A):c.959G>A (p.Arg320His)	TUBA4A	Oct 22, 2014	MedGen:C4015512,OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	germline	2	219250740	GCAAGTACATGGCCTGCTGCCTGCTGTACCGTGGAGATGTGGTGCCCAAGGATGTCAACGC
375072557	178869	NM_173689.6(CRB2):c.2277G>A (p.Trp759Ter)	CRB2	Jan 08, 2015	MedGen:C1857423,OMIM:219730,Orphanet:ORPHA443988	Ventriculomegaly with cystic kidney disease	germline	9	123371419	GAGGCTCCTTGCTGCCGACAGCCAGCCCTGGGGTGGGCCCTTCCGAGGCTGCCTCCAGGAC
587782272	151875	NM_000546.5(TP53):c.994-1G>A	TP53	Mar 02, 2013	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	7670716	ACTTACTTCTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCGTGAGCGCTTCGAGATGTTC
377767428	36299	NM_020630.4(RET):c.2647G>A (p.Ala883Thr)	RET	Dec 04, 2012	MedGen:CN076152	MEN2 phenotype: Unclassified	not provided	10	43120120	CGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATT
281865358	104891	NM_000330.3(RS1):c.599G>A (p.Arg200His)	RS1	Jan 14, 2016	MedGen:CN517202	not provided	germline	X	18642080	TGCGGCCCCCCATCATCTCCCGCTTCATCCGCCTCATCCCGCTGGGCTGGCACGTCCGCAT
118203886	24613	m.611G>A	MT-TF	Jan 29, 2015	MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	Myoclonus with epilepsy with ragged red fibers	germline	MT	611	ATGTAGCTTACCTCCTCAAAGCAATACACTGAAAATGTTTAGACGGGCTCACATCACCCCA
747291494	245008	NM_022041.3(GAN):c.851+1G>A	GAN	Aug 08, 2017	MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:128207002;MedGen:CN517202;MedGen:CN169374	Giant axonal neuropathy;not provided;not specified	germline	16	81357003	CATCGTGACTGTTGGTGGAGAAGAGAGAGTGTAAGTATGAGGTGGGACTTGTTTGAAAAGT
121913614	29202	NM_005373.2(MPL):c.1514G>A (p.Ser505Asn)	MPL	Oct 02, 2014	MeSH:D013920,MedGen:C0040028,OMIM:187950,Orphanet:ORPHA3318;Human Phenotype Ontology:HP:0011974,MeSH:D055728,MedGen:C0001815,OMIM:254450;MedGen:C1292778;MedGen:C1865987,OMIM:601977	Essential thrombocythemia;Myelofibrosis;Myeloproliferative Neoplasm;Thrombocytosis, benign familial microcytic	germline;somatic	1	43349308	TGACCGCTCTGCATCTAGTGCTGGGCCTCAGCGCCGTCCTGGGCCTGCTGCTGCTGAGGTG
3218716	52071	NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr)	MYH7	Jul 18, 2017	MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007;MedGen:C1834481,OMIM:613426;MedGen:C3495498,OMIM:192600;MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135;Gene:619511,MedGen:C1850709,OMIM:255160;MedGen:C1842160,OMIM:608358,SNOMED CT:699267007;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;Gene:8090,MedGen:CN074265,OMIM:181430,Orphanet:ORPHA437572;MedGen:CN517202	Congenital myopathy with fiber type disproportion;Dilated cardiomyopathy 1S;Familial hypertrophic cardiomyopathy 1;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Myopathy, distal, 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;Scapuloperoneal myopathy, MYH7-related;not provided	germline;inherited;unknown	14	23425316	CGTATCCAGGCCCAGTCCCGAGGTGTGCTCGCCAGAATGGAGTACAAAAAGCTGCTGGAAC
121918444	28592	NM_000212.2(ITGB3):c.719G>A (p.Arg240Gln)	ITGB3	Feb 25, 1992	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	47286364	ATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGA
121964997	26996	NM_000191.2(HMGCL):c.122G>A (p.Arg41Gln)	HMGCL	Jan 18, 2013	MedGen:C0268601,OMIM:246450,SNOMED CT:124611007;MedGen:CN517202	Deficiency of hydroxymethylglutaryl-CoA lyase;not provided	germline	1	23820532	AGCGGGTGAAAATTGTGGAAGTTGGTCCCCGAGATGGACTACAAAATGAAAAGGTAAAGTT
121913113	31394	NM_000142.4(FGFR3):c.1862G>A (p.Arg621His)	FGFR3	Nov 01, 2006	MedGen:C1864852,OMIM:610474,Orphanet:ORPHA85164	Camptodactyly, tall stature, and hearing loss syndrome	germline	4	1806076	CCCAGTGCATCCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACAACGTGAT
879254093	244585	NM_000051.3(ATM):c.1463G>A (p.Trp488Ter)	ATM	Apr 18, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:CN517202	Ataxia-telangiectasia syndrome;not provided	germline	11	108250928	CAGATTTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGTTCTGA
587784281	169366	NM_000430.3(PAFAH1B1):c.671G>A (p.Gly224Asp)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2672757	AAACTATAAAAATGTGGGAAGTGCAAACTGGGTAAGTAAGTTTAGTTGAAAAGGCATCAGC
61750173	24396	NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His)	GUCY2D	Dec 07, 2017	MedGen:C1866293,OMIM:601777;Human Phenotype Ontology:HP:0000556,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:314407005;MedGen:CN517202	Cone-rod dystrophy 6;Retinal dystrophy;not provided	germline;unknown	17	8014701	CTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAA
-1	438554	NM_018890.3(RAC1):c.527G>A (p.Cys176Tyr)	RAC1	Oct 31, 2017	MedGen:CN580791,OMIM:617751;MedGen:CN517202	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48;not provided	germline	7	6402337	TTCCTGTAGGTGCTGTAAAATACCTGGAGTGCTCGGCGCTCACACAGCGAGGCCTCAAGAC
147879266	27697	NM_003319.4(TTN):c.13250G>A (p.Ser4417Asn)	TTN	Feb 22, 2002	MedGen:C1858763,OMIM:604145	Dilated cardiomyopathy 1G	germline	2	178738114	ATACATGCAAAGCTTCCAATGAGTATGGCAGTGTCAGCTGTACAGCCACACTAACTGTGAC
397508070	67605	NM_000218.2(KCNQ1):c.1032+1G>A	KCNQ1	Jul 12, 2013	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Long QT syndrome;not provided	germline	11	2583546	TTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTCCCTGGC
137854469	31483	NM_000138.4(FBN1):c.3668G>A (p.Cys1223Tyr)	FBN1	Nov 09, 2012	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48485418	CAAACTCTGAAGGCAGCTATGAATGTAGCTGTCAGCCGGGATTTGCACTAATGCCTGACCA
879254280	244339	NM_000465.3(BARD1):c.102G>A (p.Trp34Ter)	BARD1	Apr 11, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Hereditary cancer-predisposing syndrome;not provided	germline	2	214809468	CGCCATGGAACCGGATGGTCGCGGTGCCTGGGCCCACAGTCGCGCCGCGCTCGACCGCCTG
28931593	32066	NM_004004.5(GJB2):c.224G>A (p.Arg75Gln)	GJB2	Dec 22, 2016	MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Keratoderma palmoplantar deafness;Nonsyndromic hearing loss and deafness;not provided	germline;inherited	13	20189358	ACGATCACTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGTC
137852902	17639	NM_058172.5(ANTXR2):c.314G>A (p.Gly105Asp)	ANTXR2	Oct 01, 2003	MedGen:C2745948,OMIM:228600,SNOMED CT:238861002,SNOMED CT:238867003	Hyaline fibromatosis syndrome	germline	4	80055996	ATATTATTTTCAGAGGCAAAATCAGTAAAGGCTTGGAGGATTTAAAACGTGTTAGTCCAGT
58619430	77145	NM_000424.3(KRT5):c.502G>A (p.Glu168Lys)	KRT5	Aug 10, 2016	MedGen:CN517202	not provided	germline	12	52519795	GACCCCAGCATCCAGAGGGTGAGGACCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATA
1057519696	362765	NM_004304.4(ALK):c.3673G>A (p.Asp1225Asn)	ALK	Oct 02, 2014	Human Phenotype Ontology:HP:0002859,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780	Rhabdomyosarcoma	somatic	2	29214054	CAGAGCCAGCCCTCCTCCCTGGCCATGCTGGACCTTCTGCACGTGGCTCGGGACATTGCCT
121909505	33407	NM_000751.2(CHRND):c.234G>A (p.Trp78Ter)	CHRND	Feb 01, 2008	MedGen:C1854678,OMIM:253290,Orphanet:ORPHA33108,SNOMED CT:60192008	Lethal multiple pterygium syndrome	germline	2	232527436	AGTTGAGGAGACCCTCACTACCAATGTGTGGATAGAGCACGTAAGAATGCCCCTCCCAGCC
-1	432336	NM_000088.3(COL1A1):c.1929+1G>A	COL1A1	Apr 20, 2017	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	germline	17	50192639	CAAGGCCCTGCTGGCTCCCCCGGATTCCAGGTGAGGCCTCATGGCTGTCAGGATGCTGGGA
121908943	21779	NM_006892.3(DNMT3B):c.1807G>A (p.Ala603Thr)	DNMT3B	Oct 29, 1999	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	germline	20	32800200	GAGTTGGGCATAAAGGTAGGAAAGTACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTG
398123455	99119	NM_000528.3(MAN2B1):c.1929G>A (p.Trp643Ter)	MAN2B1	Mar 13, 2013	MedGen:CN517202	not provided	germline	19	12652270	TTACCTGACTCTCACCTGCCCCAACTCCAGGTACAACGCCAGTATAGGTGACAACGAAAGT
201728138	481567	NM_002016.1(FLG):c.977G>A (p.Trp326Ter)	FLG	Nov 02, 2017	MedGen:CN517202	not provided	germline	1	152313909	CGGCTTCCAGAAACCATCATGGATCTGCGTGGGAGCAGTCAAGAGATGGCTCCAGACACCC
-1	433004	NM_001127510.2(APC):c.532-1G>A	APC	Jan 13, 2017	MedGen:CN169374	not specified	germline	5	112780789	ATTGATACTTTTTTATTATTTGTGGTTTTAGTTTTCCTTACAAACAGATATGACCAGAAGG
587776773	27709	NM_002734.4(PRKAR1A):c.-7+1G>A	PRKAR1A	Sep 01, 2002	MedGen:C1864846,OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	unknown	17	68512549	AGCCTCGCGCCCGCCGCCGCCCGTCCCCAGGTGAGTGGGGTCGGCCGGGGGCTCAGGCGAG
886039584	260301	NM_000444.5(PHEX):c.1209G>A (p.Trp403Ter)	PHEX	Jul 14, 2016	MedGen:CN517202	not provided	germline	X	22114493	CCAGGGGACCACAACTTTGCTGCCTCAATGGGACAAATGTGTAAACTTTATTGAAAGTGCC
1131691732	421192	NM_024529.4(CDC73):c.423+1G>A	CDC73	Sep 25, 2015	MedGen:CN517202	not provided	germline	1	193135590	TTAGCAGAAGCAAAGAAACCACGAATTGAGGTAAAGAAACTGTATTTTAAACAATTTTATT
118204006	16250	NM_000429.2(MAT1A):c.1006G>A (p.Gly336Arg)	MAT1A	Feb 01, 2000	MedGen:C0268621,OMIM:250850,Orphanet:ORPHA168598,SNOMED CT:57835009	Hepatic methionine adenosyltransferase deficiency	germline	10	80274599	GAGCCGCTGTCCATTTCCATCTTCACCTACGGAACCTCTCAGAAGACAGAGCGAGAGCTGC
121909329	23507	NM_007126.4(VCP):c.464G>A (p.Arg155His)	VCP	May 04, 2017	MedGen:C3152097;MedGen:C3151403,OMIM:613954;MedGen:C1833662,OMIM:167320,Orphanet:ORPHA52430;MedGen:C1833662,OMIM:167320,Orphanet:ORPHA52430;MedGen:CN517202	Amyotrophic lateral sclerosis 14 without frontotemporal dementia;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;Inclusion body myopathy with early-onset paget disease and frontotemporal dementia;not provided	germline	9	35065363	TTGCTCTCGCAGGAGACATTTTTCTTGTCCGTGGTGGGATGCGTGCTGTGGAGTTCAAAGT
376595844	19676	NM_052985.3(IFT122):c.502+5G>A	IFT122	Sep 12, 2013	MedGen:C0432235,OMIM:218330	Cranioectodermal dysplasia 1	germline	3	129461309	GGCATCTTGTTCCTCCAGTGACTTTGGTACGTTCTGATTCCTGATGTCCTGTCCTGGAATA
1060503759	390910	NM_003000.2(SDHB):c.602G>A (p.Trp201Ter)	SDHB	Nov 02, 2016	Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890;MedGen:C1861848,OMIM:115310;Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Gastrointestinal stroma tumor;Paragangliomas 4;Pheochromocytoma	germline	1	17024013	GCTGTAGCACCAGCTGCCCCAGCTACTGGTGGAACGGAGACAAATATCTGGGGCCTGCAGT
1064793964	411320	NM_004006.2(DMD):c.2555G>A (p.Trp852Ter)	DMD	Jul 23, 2015	MedGen:CN517202	not provided	germline	X	32491344	TGGAGCAGATGACAACTACTGCTGAAAACTGGTTGAAAATCCAACCCACCACCCCATCAGA
118192122	76888	NM_000540.2(RYR1):c.7361G>A (p.Arg2454His)	RYR1	May 11, 2010	MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED CT:43152001;MedGen:CN517202	Central core disease;not provided	unknown	19	38500643	AAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGA
1131690920	420726	NM_000455.4(STK11):c.920+1G>A	STK11	Jul 27, 2012	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	19	1222007	GTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTGGGGCCGAG
149003934	49765	NM_025137.3(SPG11):c.6157G>A (p.Val2053Met)	SPG11	Jan 31, 2013	MedGen:C1858479,OMIM:604360,Orphanet:ORPHA2822	Spastic paraplegia 11, autosomal recessive	not provided	15	44573595	GGCCTTAAGCCAGATACTGTGGCTGAACTCGTGGCAGAAGAGGTGACACGGGAGCTGCTTA
118203918	15679	NM_016513.4(ICK):c.815G>A (p.Arg272Gln)	ICK	Feb 01, 2009	MedGen:C2675227,OMIM:612651,Orphanet:ORPHA199332	Endocrine-cerebroosteodysplasia	germline	6	53016099	GAGACATGCTTCAGTGGGATCCCAAGAAACGACCAACAGCTAGTCAGGTTTTCTTCCATTT
886039451	360692	NM_000377.2(WAS):c.559+5G>A	WAS	Dec 24, 2015	MedGen:CN517202	not provided	germline	X	48686139	CCTGCATCCAGGTGGAGACCAAGGAGGTGCGTGCTGATTCTTCCCTGTGTCTCTGGATGGA
1057521924	377988	NM_006086.3(TUBB3):c.862G>A (p.Glu288Lys)	TUBB3	Jan 18, 2017	MedGen:CN517202	not provided	germline	16	89935313	AGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGA
104893676	20390	NM_016006.4(ABHD5):c.19G>A (p.Glu7Lys)	ABHD5	Nov 01, 2001	MedGen:C0268238,OMIM:275630,Orphanet:ORPHA98907,SNOMED CT:19604005	Triglyceride storage disease with ichthyosis	germline	3	43691011	GCGGCGGCGGCTATGGCGGCGGAGGAGGAGGAGGTGGACTCTGCCGACACCGGAGAGAGGT
1131691936	424618	NM_172107.3(KCNQ2):c.902G>A (p.Gly301Asp)	KCNQ2	Aug 01, 2017	MedGen:C3150986,OMIM:613720,Orphanet:ORPHA439218	Early infantile epileptic encephalopathy 7	de novo	20	63439623	GGCTCCTTGCGGCAACCTTCACCCTCATCGGTGTCTCCTTCTTCGCGCTGCCTGCAGTAAG
1064794618	410283	NM_000546.5(TP53):c.159G>A (p.Trp53Ter)	TP53	Jun 02, 2017	MedGen:CN517202	not provided	germline	17	7676210	GATGCTGTCCCCGGACGATATTGAACAATGGTTCACTGAAGACCCAGGTCCAGATGAAGCT
140342925	150591	NM_001128425.1(MUTYH):c.734G>A (p.Arg245His)	MUTYH	Sep 27, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798;Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007;Human Phenotype Ontology:HP:0030434,MeSH:D018296,MedGen:C0206711,OMIM:132600,Orphanet:ORPHA91414;MedGen:CN517202	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;MYH-associated polyposis;Neoplasm of stomach;Pilomatrixoma;not provided	germline;unknown	1	45332445	TGGATGGCAACGTAGCACGGGTGCTGTGCCGTGTCCGAGCCATTGGTGCTGATCCCAGCAG
3729851	426527	NM_002052.4(GATA4):c.997+200G>A	GATA4	Jan 07, 2017	MedGen:C0152021,SNOMED CT:13213009	Congenital heart disease	unknown	8	11755333	CAATTGCCATGGAACGTGTTGGGAGCTTTCGAAGCAGGCTCAACTCAAGCTGGGGCCTGAT
121909211	22908	NM_000358.2(TGFBI):c.371G>A (p.Arg124His)	TGFBI	Apr 01, 2004	MedGen:C1275685,OMIM:607541,Orphanet:ORPHA98963,SNOMED CT:397568004	Avellino corneal dystrophy	germline	5	136046407	GATCCACCACCACTCAGCTGTACACGGACCGCACGGAGAAGCTGAGGCCTGAGATGGAGGG
199474724	49658	NM_005572.3(LMNA):c.674G>A (p.Arg225Gln)	LMNA	Jan 17, 2013	MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005;MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855	Benign scapuloperoneal muscular dystrophy with cardiomyopathy;Emery-Dreifuss muscular dystrophy 3, autosomal recessive	germline	1	156134839	TGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCG
587779631	107107	NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser)	COL3A1	Aug 21, 2017	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN517202	Ehlers-Danlos syndrome, type 4;not provided	germline	2	188994306	CGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAA
267607035	33440	NM_016955.3(SEPSECS):c.715G>A (p.Ala239Thr)	SEPSECS	Oct 08, 2010	MedGen:C3151140,OMIM:613811	Pontocerebellar hypoplasia type 2D	germline	4	25152049	AATATTTATGTTTATAGATTAGAAGAACTGGCTGTGATTTGTGCTAATTATGACATTCCAC
773785934	224796	NM_001953.4(TYMP):c.1301-1G>A	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50525919	GCGCGGCCTCTAACAGCCCCTCGCTCTGCAGGGACCCCCTGGCTCCGCGTGCACCGGGACG
121964861	27456	NM_000364.3(TNNT2):c.829G>A (p.Asp277Asn)	TNNT2	Nov 16, 2004	MedGen:C1832243,OMIM:601494	Left ventricular noncompaction 6	germline	1	201359636	CAGATCAATGTTCTCCGAAACAGGATCAACGATAACCAGAAAGTGTAAGTGTCTGAGGTCA
121908654	21346	NM_001015879.1(AURKC):c.629G>A (p.Cys210Tyr)	AURKC	Apr 01, 2009	MedGen:C0403812,OMIM:243060,Orphanet:ORPHA137893,SNOMED CT:236806004	Infertility associated with multi-tailed spermatozoa and excessive DNA	germline	19	57234985	AGGTGGATTTGTGGTGCATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGATATCCACCCTT
149344567	190051	NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg)	KCND3	Jun 01, 2012	MedGen:C4225340,OMIM:616399	Brugada syndrome 9	germline	1	111776247	CGCTCCAGCCTTAATTTGAAAGCAGACGACGGACTGAGACCAAACTGCAAAACATCCCAGA
104886375	35601	NM_000495.4(COL4A5):c.322-1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108568758	TATTATACATGTGTTATGTCGCTTTTCAAAGGGAATGCCAGGCCACGATGGGGCCCCAGGA
372006750	186764	NM_019098.4(CNGB3):c.1578+1G>A	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline;unknown	8	86625982	AGCATCATCAGCAAAGTCGACTTGTTCAAGGCAAGTGCTTTTACAATTAATAGACTCTGTA
879255651	247611	NM_000902.3(MME):c.428G>A (p.Cys143Tyr)	MME	Oct 06, 2016	MedGen:C4310763,OMIM:617018	Spinocerebellar ataxia 43	germline	3	155116548	TGCAGAAAGCAAAAGCATTGTACAGGTCTTGTATAAATGAATGTAAGTGCTCTTCATTTGA
727502886	172928	NM_001103.3(ACTN2):c.355G>A (p.Ala119Thr)	ACTN2	Apr 25, 2017	Human Phenotype Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED CT:85898001;MedGen:C2677338,OMIM:612158;MedGen:CN229563	Cardiomyopathy;Dilated cardiomyopathy 1AA;Familial hypertrophic cardiomyopathy 23	germline	1	236719007	AGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCT
62637337	259989	NM_004183.3(BEST1):c.636+1G>A	BEST1	May 26, 2016	MedGen:CN517202	not provided	germline	11	61956999	GACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCA
118192104	24624	m.8361G>A	MT-TK	Jan 29, 2015	MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551	Myoclonus with epilepsy with ragged red fibers	germline	MT	8361	AAAGATTAAGAGAACCAACACCTCTTTACAGTGAAATGCCCCAACTAAATACTACCGTATG
796052959	201617	NM_001165963.1(SCN1A):c.603-1G>A	SCN1A	Dec 16, 2013	MedGen:CN517202	not provided	germline	2	166052944	TTTGTGTTTGTGTGTGAACTCCCTATTACAGGTACGTCACAGAGTTTGTGGACCTGGGCAA
398123515	99292	NM_000709.3(BCKDHA):c.979G>A (p.Glu327Lys)	BCKDHA	Sep 05, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	19	41422754	GCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGTGCCTGCCGCTCC
1064794149	411240	NM_000284.3(PDHA1):c.905G>A (p.Arg302His)	PDHA1	Sep 09, 2015	MedGen:CN517202	not provided	germline	X	19358921	GATTACTACTTTTCCCTCCCCATAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAG
121913621	29182	NM_002470.3(MYH3):c.1123G>A (p.Glu375Lys)	MYH3	May 01, 2006	MedGen:C1834523,OMIM:601680,Orphanet:ORPHA1147	Distal arthrogryposis type 2B	germline	17	10645725	TTCAAGCAGAAGCAGCGAGAGGAGCAGGCCGAGCCGGATGGCACAGAAGGTACAAAATCAG
28941473	17441	NM_000048.3(ASL):c.532G>A (p.Val178Met)	ASL	Aug 04, 2017	MedGen:C0268547,OMIM:207900,Orphanet:ORPHA23,SNOMED CT:41013004	Argininosuccinate lyase deficiency	germline	7	66086751	CTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGC
-1	477762	NM_004360.4(CDH1):c.308G>A (p.Trp103Ter)	CDH1	Apr 15, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	16	68801814	ACCCACAGATCCATTTCTTGGTCTACGCCTGGGACTCCACCTACAGAAAGTTTTCCACCAA
886039252	259339	NM_001242896.1(DEPDC5):c.624+1G>A	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31784876	TTCCTTGCTGATCTATTTACCAAGTGGAAGGTACATTTCTTCTTACACACTAAGTCTCATT
794728843	197003	NM_198056.2(SCN5A):c.611+1G>A	SCN5A	May 24, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN029323,OMIM:601144;MedGen:CN517202	Brugada syndrome;Brugada syndrome 1;not provided	germline;unknown	3	38620842	CTGGCTGGACTTTAGTGTGATTATCATGGCGTAAGTATCTCATTTGCTATGCTGTGCTATG
869312132	225800	NM_001918.3(DBT):c.1033G>A (p.Gly345Arg)	DBT	Jan 01, 2013	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	germline	1	100206621	TTTTTTATTTTTTAGGCTTCTCATAACATTGGGATAGCAATGGATACTGAGCAGGGTTTGA
80357292	46268	NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter)	BRCA1	Nov 09, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	germline	17	43094569	CTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAG
-1	434134	NM_174936.3(PCSK9):c.76G>A (p.Ala26Thr)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55039913	CTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACG
121434522	20739	NM_005977.3(RNF6):c.305G>A (p.Arg102Lys)	RNF6	Aug 01, 2002	MedGen:C4016881	Esophageal squamous cell carcinoma, somatic	somatic	13	26215577	TGCTTTGCTTTCTAGACTCAGAAGTCCCTAGAGAAAGTTCACATGAAGATTCTCTTCTAGA
564317065	170946	NM_030777.3(SLC2A10):c.737G>A (p.Gly246Glu)	SLC2A10	Sep 10, 2014	MedGen:C1859726,OMIM:208050,Orphanet:ORPHA3342	Arterial tortuosity syndrome	germline	20	46725773	TGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCAC
104893689	23353	NM_000388.3(CASR):c.554G>A (p.Arg185Gln)	CASR	Sep 20, 2016	MedGen:C1809471,OMIM:145980,Orphanet:ORPHA93372,SNOMED CT:190868007;MedGen:C1832615,OMIM:239200,Orphanet:ORPHA417;MedGen:CN517202	Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;not provided	germline;maternal	3	122261589	GCAACAAGAATCAATTCAAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCAC
780990272	260054	NM_000359.2(TGM1):c.872G>A (p.Gly291Asp)	TGM1	Mar 06, 2017	MedGen:CN517202	not provided	germline	14	24259944	CACAGATTGGTGAGCGGACCTGGAACTACGGCCAGGTATGGTGCGGCTGGCCAGGGTCACA
1085307149	414075	NM_001204.6(BMPR2):c.27G>A (p.W9*)	BMPR2	-	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202377501	AGGGATGACTTCCTCGCTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTG
80358150	46210	NM_007294.3(BRCA1):c.5277+1G>A	BRCA1	Aug 08, 2017	MedGen:C2676676,OMIM:604370;MedGen:C0677776,Orphanet:ORPHA145;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202;MedGen:CN169374	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	germline;unknown	17	43057051	AAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAAT
104894089	24035	NM_000349.2(STAR):c.559G>A (p.Val187Met)	STAR	Dec 01, 2006	MedGen:C0342474,OMIM:201710,Orphanet:ORPHA90790,SNOMED CT:44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency	germline	8	38146054	AACCTGGTGGGGCCCCGTGACTTTGTGAGCGTGCGCTGTGCCAAGCGCCGAGGCTCCACCT
749383757	404684	NM_016532.3(INPP5K):c.418G>A (p.Gly140Ser)	INPP5K	Jul 21, 2017	MedGen:CN241833,OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	germline	17	1509314	GGTGGAGTCAACATCTGCCTGAAGCTTTATGGCTACTATGTCAGCATCATCAACTGCCACC
267606948	18910	NM_006623.3(PHGDH):c.1129G>A (p.Gly377Ser)	PHGDH	May 01, 2009	MedGen:C1866174,OMIM:601815	Phosphoglycerate dehydrogenase deficiency	germline	1	119741817	GGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGG
1114167410	414023	NM_000088.3(COL1A1):c.752G>A (p.Gly251Asp)	COL1A1	-	MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Osteogenesis imperfecta type I	unknown	17	50197062	CCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCT
869320713	227161	NM_001202468.1(ZMYND11):c.1262G>A (p.Ser421Asn)	ZMYND11	Apr 13, 2016	Human Phenotype Ontology:HP:0001249,MedGen:C1843367;MedGen:C4015167,OMIM:616083;MedGen:CN517202	Intellectual disability;Mental retardation, autosomal dominant 30;not provided	de novo;germline	10	248370	CAGAGCCTGAAACAGAAGCAGTAAGTTCTAGCCAGGAAATACCCACGATGCCTCAGCCCAT
398123643	99797	NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg)	COL6A1	Mar 02, 2017	MedGen:CN029274,OMIM:158810;MedGen:CN033863,OMIM:254090	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	germline	21	45989626	CCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTAC
150877497	226470	NM_003494.3(DYSF):c.3113G>A (p.Arg1038Gln)	DYSF	Apr 27, 2017	MedGen:C2931687,Orphanet:ORPHA207073;MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:CN517202	Dysferlinopathy;Limb-girdle muscular dystrophy, type 2B;not provided	germline;unknown	2	71570680	TCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAG
398123127	98276	NM_000048.3(ASL):c.602+1G>A	ASL	Nov 14, 2013	MedGen:CN517202	not provided	germline	7	66086822	GAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTG
121908899	21418	NM_003880.3(WISP3):c.434G>A (p.Cys145Tyr)	WISP3	Sep 01, 1999	MedGen:C0432215,OMIM:208230,Orphanet:ORPHA1159,SNOMED CT:254065005	Progressive pseudorheumatoid dysplasia	germline	6	112064842	TTCAGCCCAACCCCTTGTTCAGCTGCCTCTGTGTGAGTGGGGCCATTGGATGCACACCTCT
121907899	18549	NM_000272.3(NPHP1):c.1027G>A (p.Gly343Arg)	NPHP1	Jul 11, 2017	MedGen:C0687120,Orphanet:ORPHA655,SNOMED CT:204958008;MedGen:C1855681,OMIM:256100,Orphanet:ORPHA93592;MedGen:CN517202	Nephronophthisis;Nephronophthisis 1;not provided	germline	2	110163048	CCTTCCACGCTCTCACAGCTTCTGGAGGAAGGTAATGCGTGCCTATCAGCCACTGCACTCT
121918289	17783	NM_004183.3(BEST1):c.256G>A (p.Val86Met)	BEST1	Oct 01, 2004	MedGen:C1860406,OMIM:193220,Orphanet:ORPHA3086	Vitreoretinochoroidopathy	germline	11	61955726	GCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACC
121909136	22638	NM_000085.4(CLCNKB):c.1830G>A (p.Trp610Ter)	CLCNKB	Nov 25, 2015	MedGen:C1846344;MedGen:CN517202	Bartter syndrome, type 3, with hypocalciuria;not provided	germline	1	16055508	GCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAG
-1	440685	NM_000091.4(COL4A3):c.3620G>A (p.Gly1207Glu)	COL4A3	Nov 08, 2016	MedGen:CN517202	not provided	germline	2	227297728	CAGGTTTTCCTGGCCTCCCGGGCAGAAAAGGGGCCATGGGAGATGCTGGACCTCGAGGACC
-1	434169	NM_000384.2(APOB):c.10724G>A (p.Gly3575Asp)	APOB	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	2	21006144	ACAGTACGAAAAACCACTTACAGCTAGAGGGCCTCTTTTTCACCAACGGAGAACATACAAG
113605875	27564	NM_004612.3(TGFBR1):c.1460G>A (p.Arg487Gln)	TGFBR1	Jul 13, 2017	MedGen:C2697932,Orphanet:ORPHA60030,SNOMED CT:446263001;MedGen:C2697933,OMIM:609192;MedGen:CN118826,Orphanet:ORPHA91387;MedGen:CN517202	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection;not provided	germline	9	99149253	CCAATGGAGCAGCTAGGCTTACAGCATTGCGGATTAAGAAAACATTATCGCAACTCAGTCA
886041904	264682	NM_000088.3(COL1A1):c.3415G>A (p.Gly1139Ser)	COL1A1	Jul 20, 2016	MedGen:CN517202	not provided	germline	17	50187492	CAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCC
397517154	49153	NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys)	SOS1	May 15, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1860991,OMIM:609942;MedGen:C1853120,OMIM:610733;MedGen:CN517202	Noonan syndrome;Noonan syndrome 3;Noonan syndrome 4;not provided	germline	2	39022773	TATCTTTACAGTACCGGAGTACACTGGAAAGGATGCTTGATGTAACAATGCTACAGGAAGA
774318611	260378	NM_024818.4(UBA5):c.164G>A (p.Arg55His)	UBA5	Oct 06, 2016	MedGen:C4310700,OMIM:617132	Epileptic encephalopathy, early infantile, 44	germline	3	132665825	TTTAAAACATATTTTTCTTTGTTTTAAGCCGCTTGATGGCATTGAAACGAATGGGAATTGT
387906816	39166	NM_005257.5(GATA6):c.551G>A (p.Ser184Asn)	GATA6	Oct 01, 2010	MedGen:C3280943,OMIM:614475;Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED CT:86299006	Atrial septal defect 9;Tetralogy of Fallot	germline	18	22171695	CCGCGGCGGCAGCAGCCGCGGCGGCGGCCAGCTCCCCGGTCTACGTGCCCACCACCCGCGT
72554347	103050	NM_000531.5(OTC):c.292G>A (p.Glu98Lys)	OTC	-	MedGen:CN517202	not provided	unknown	X	38369871	AAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAGGTAAGTCCACTGCCAAATTCACAC
80356794	76551	NM_001876.3(CPT1A):c.1425G>A (p.Trp475Ter)	CPT1A	Mar 07, 2013	MedGen:C0342789,OMIM:255120,SNOMED CT:238001003	Carnitine palmitoyltransferase I deficiency	not provided	11	68780673	GAAGATGGGCCTCAACGCTGAACACTCCTGGGCAGATGCGCCGATCGTGGCCCACCTTTGG
1064792859	224744	NM_001257989.1(TYMP):c.228G>A (p.Met76Ile)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50529325	GTACCCCCACATACCAGGGGCCATGCTGATGGCCATCCGACTTCGGGGCATGGATCTGGAG
387906653	38751	NM_006749.4(SLC20A2):c.1723G>A (p.Glu575Lys)	SLC20A2	Feb 12, 2012	Gene:23706,MedGen:C0393590,OMIM:213600,Orphanet:ORPHA1980,SNOMED CT:110997000	Idiopathic basal ganglia calcification 1	germline	8	42428829	TCATGCTCCCCCCACAGCGGCTTCACGATCGAGCTGGCCTCAGCCTTCACAGTGGTGATCG
180675584	364147	NM_138694.3(PKHD1):c.5912G>A (p.Gly1971Asp)	PKHD1	Jan 06, 2017	MedGen:CN517202	not provided	germline	6	51934319	ACTGACAATTTTCCCTTTGTCCATTAGGGGGCAAGCTGATTTTCATGGCCCCAGGACCCAT
745973997	259925	NM_003383.4(VLDLR):c.1586G>A (p.Trp529Ter)	VLDLR	Aug 13, 2015	MedGen:CN517202	not provided	germline	9	2646435	CTGTTGATTGGGTGTACAAGACCATCTACTGGACTGATGCGGCTTCTAAGACTATTTCAGT
922847767	439573	NM_005458.7(GABBR2):c.1699G>A (p.Ala567Thr)	GABBR2	Mar 15, 2018	MedGen:CN870852,OMIM:617903;MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008	NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS;Rett syndrome	de novo;germline;not applicable	9	98371535	ACCTGGATTCTCACCGTGGGCTACACGACCGCTTTTGGGGCCATGTTTGCAAAGACCTGGA
267607126	27483	NM_003280.2(TNNC1):c.251G>A (p.Cys84Tyr)	TNNC1	Aug 01, 2008	MedGen:C2750472,OMIM:613243	Familial hypertrophic cardiomyopathy 13	germline	3	52451810	TTGATGAGTTCCTGGTCATGATGGTTCGGTGCATGAAGGACGACAGCAAAGGGAAATCTGA
397515381	26662	NM_004595.4(SMS):c.329+5G>A	SMS	Jun 27, 2013	MedGen:C0796160,OMIM:309583,Orphanet:ORPHA3063	Snyder Robinson syndrome	germline	X	21972576	CAGGACAGTACTGGGCGGGTGAAACGGTAAGTCCACTCTTGAATGTCCTTTTATATTTAAT
72555391	15971	NM_000404.3(GLB1):c.1445G>A (p.Arg482His)	GLB1	Aug 09, 2016	MedGen:C0085131,Orphanet:ORPHA354;MedGen:C0268272,OMIM:230600,Orphanet:ORPHA79256,SNOMED CT:18756002;MedGen:C0268273,OMIM:230650,Orphanet:ORPHA79257;MedGen:C0268271,OMIM:230500,Orphanet:ORPHA79255,SNOMED CT:238026007;MedGen:C0086652,OMIM:253010,Orphanet:ORPHA309310,SNOMED CT:238044004	GM1 gangliosidosis;GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	germline	3	33016743	CTCTGGACCTTCTGGTAGAGAACATGGGACGTGTGAACTATGGTGCATATATCAACGATTT
28937575	22026	NM_004473.3(FOXE1):c.170G>A (p.Ser57Asn)	FOXE1	Mar 01, 2011	MedGen:C1855794,OMIM:241850,Orphanet:ORPHA1226	Bamforth syndrome	germline	9	97854084	GCCCCCTGCAGCGCGGGAAGCCGCCCTACAGCTACATCGCGCTCATCGCCATGGCCATCGC
1057520715	378336	NM_000516.5(GNAS):c.125G>A (p.Arg42His)	GNAS	May 21, 2015	MedGen:CN517202	not provided	germline	20	58891851	AGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGG
61754360	18823	NM_000372.4(TYR):c.533G>A (p.Trp178Ter)	TYR	Jul 01, 1991	MedGen:C0268494,OMIM:203100,Orphanet:ORPHA79431,SNOMED CT:6483008;MedGen:CN517202	Tyrosinase-negative oculocutaneous albinism;not provided	germline	11	89178486	ACGACATCAATATTTATGACCTCTTTGTCTGGATGCATTATTATGTGTCAATGGATGCACT
80356463	23639	NM_175875.4(SIX5):c.1093G>A (p.Gly365Arg)	SIX5	Aug 27, 2009	MedGen:C1970479,OMIM:610896	Branchiootorenal syndrome 2	germline	19	45766866	AGCCTGGGCCCGCTGCTGCTCACTGGGGGCGGGGGTGCCCCTCCACCGCAGCCCAGCCCTC
587779706	107218	NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp)	COL3A1	Mar 25, 2015	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000;MedGen:CN118826,Orphanet:ORPHA91387	Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection	germline	2	188999358	CAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAAC
863224451	213392	NM_000546.5(TP53):c.824G>A (p.Cys275Tyr)	TP53	Jul 26, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482;Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,SNOMED CT:277473004,SNOMED CT:51092000;MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100843,MeSH:D005909,MedGen:C0017636,SNOMED CT:63634009;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MedGen:C0027672,SNOMED CT:699346009;MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005;Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:C0279663;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;Human Phenotype Ontology:HP:0006740,MedGen:C0279680;MedGen:CN517202	Adenocarcinoma of lung;Adrenocortical carcinoma;Carcinoma of esophagus;Chronic lymphocytic leukemia;Colorectal Neoplasms;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Malignant melanoma of skin;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Transitional cell carcinoma of the bladder;not provided	germline;somatic	17	7673796	TGGGACGGAACAGCTTTGAGGTGCGTGTTTGTGCCTGTCCTGGGAGAGACCGGCGCACAGA
120074119	18021	NM_000543.4(SMPD1):c.1735G>A (p.Gly579Ser)	SMPD1	Sep 30, 1991	MedGen:C0268242,OMIM:257200,Orphanet:ORPHA77292,SNOMED CT:52165006	Niemann-Pick disease, type A	germline	11	6394446	TTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCACCCACCCTCGGAGCCCTGTGGCACGC
886042041	264765	NM_001958.3(EEF1A2):c.370G>A (p.Glu124Lys)	EEF1A2	Sep 22, 2017	MedGen:CN517202	not provided	germline	20	63495056	CTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGCGGGCATCTCCAAGAATGGGCAGACGC
28936700	22769	NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu)	CYP1B1	Sep 26, 2017	Human Phenotype Ontology:HP:0000557,MedGen:C0020302,OMIM:231300,Orphanet:ORPHA98976;MedGen:CN517202	Buphthalmos;not provided	germline	2	38075207	CCCCGGGCCCGTTTGCGTGGCCACTGATCGGAAACGCGGCGGCGGTGGGCCAGGCGGCTCA
116840778	23322	NM_033337.2(CAV3):c.80G>A (p.Arg27Gln)	CAV3	Jul 24, 2017	Human Phenotype Ontology:HP:0003236,MedGen:C0241005,OMIM:123320;MedGen:C3280443,OMIM:614321;MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C1853698,OMIM:606072,Orphanet:ORPHA97238;MedGen:C1832560;MedGen:CN517202	Creatine phosphokinase, elevated serum;Distal myopathy, Tateyama type;Limb-girdle muscular dystrophy, type 1C;Long QT syndrome;Rippling muscle disease;Rippling muscle disease 2;not provided	de novo;germline	3	8733956	TCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGT
794728000	196432	NM_207111.3(RNF216):c.1367G>A (p.Gly456Glu)	RNF216	Apr 28, 2015	MedGen:C1859305,OMIM:212840,Orphanet:ORPHA1173	Gordon Holmes syndrome	germline	7	5729454	ACATCAAGTGGGCCCTGCACGAGCTCAAAGGACACTATGCAATCACCCGAAAGGTACTCTA
587779716	107233	NM_000090.3(COL3A1):c.2735G>A (p.Gly912Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004055	ATGGGCCCCCAGGTCCTGCGGGTAACACTGGTGCTCCTGGCAGCCCTGGAGTGTCTGGACC
119103273	17294	NM_000265.5(NCF1):c.574G>A (p.Gly192Ser)	NCF1	Dec 01, 2006	MedGen:C1856251,OMIM:233700	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1	germline	7	74783061	GTGGTGGAGGTCGTAGAGAAGAGCGAGAGCGGTCAGACCTCCCACCTTACGGGGCTCCTTC
1060502643	404229	NM_004006.2(DMD):c.4071+1G>A	DMD	Dec 20, 2016	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001	Duchenne muscular dystrophy	germline	X	32438240	AATTCTCGTTGGAGGGAACTACATGAAGAGGTATGAAGATAAGTGAAAAATCTCTTTAATC
863223319	375629	NM_013275.5(ANKRD11):c.7570-1G>A	ANKRD11	Jun 16, 2015	MedGen:CN517202	not provided	germline	16	89274958	CCCAGCTCACTCTACTCCTCTCCTCCTTCAGGAGAAGCTGATCGTATCCTGTGAGCAGGAG
770932296	205779	NM_000520.5(HEXA):c.806-7G>A	HEXA	Jul 02, 2014	MedGen:CN068774;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Gm2-gangliosidosis, chronic;Tay-Sachs disease	germline	15	72349266	ATTTGTGACACTCATATGGGGTTTTCTCTTGGCTTAGGTATCCCTGGATTACTGACTCCTT
104894409	32075	NM_004004.5(GJB2):c.250G>A (p.Val84Met)	GJB2	Jun 08, 2016	MedGen:C2675750,OMIM:601544;MedGen:C2673759,OMIM:220290;MedGen:CN043648,Orphanet:ORPHA87884;MedGen:CN517202	Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;not provided	germline;unknown	13	20189332	ATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGTCCACGCCAGCGCTCCTAGTGGCCATGC
104894310	21955	NM_003002.3(SDHD):c.14G>A (p.Trp5Ter)	SDHD	May 09, 2002	Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	Pheochromocytoma	germline	11	112086921	GAGCCCTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCCCTAGG
104894253	24198	NM_153767.3(KCNJ1):c.535G>A (p.Ala179Thr)	KCNJ1	Jan 01, 1997	MedGen:C1855849,OMIM:241200	Bartter syndrome, type 2, antenatal	germline	11	128839709	CGTGCCAAGACCATTACGTTCAGCAAGAACGCAGTGATCAGCAAACGGGGAGGGAAGCTTT
137853264	25865	NM_004463.2(FGD1):c.1565G>A (p.Arg522His)	FGD1	Nov 01, 2000	MedGen:C0175701,OMIM:305400,SNOMED CT:14921002	Aarskog syndrome	germline	X	54465522	ACATGCTGGAGCCTGTGCAGCGCATCCCCCGCTATGAGCTTCTTCTCAAGGACTATCTGTT
104886266	36037	NM_000495.4(COL4A5):c.3997G>A (p.Gly1333Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108680751	CCTGGTCTCCCTGGTGTTCCAGGATTCCCAGGTATTTGAAGGGATTTTTGTGGTTTCCCTT
150726175	45795	NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1	Aug 09, 2017	MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:193413001;MedGen:C1837873,OMIM:608553;MedGen:CN517202	Leber congenital amaurosis;Leber congenital amaurosis 9;not provided	germline;unknown	1	9982630	TACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGACAGGAATGCTGGGGTCATCC
1060501467	394977	NM_001369.2(DNAH5):c.13331G>A (p.Trp4444Ter)	DNAH5	Nov 30, 2016	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	5	13708130	GCATGTTTGATGCTAGAATCCCTGCTTGGTGGAAAAAAGTACGTATAAGCCTGCTGTTATT
143570767	22199	NM_000492.3(CFTR):c.3873+1G>A	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008	Cystic fibrosis	germline	7	117642594	TGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGC
137852899	17806	NM_024312.4(GNPTAB):c.2681G>A (p.Trp894Ter)	GNPTAB	May 10, 2012	MedGen:C2673377,OMIM:252500,Orphanet:ORPHA576	I cell disease	germline	12	101764236	ACACAGATAGTTACTTGGGCTTTTTGCCATGGGAGAAAAAAAAGTATTTCCAAGATCTTCT
121917982	366161	NM_001165963.1(SCN1A):c.235G>A (p.Asp79Asn)	SCN1A	Jun 22, 2017	MedGen:CN517202	not provided	germline	2	166073387	CCTCCAGAGATGGTGTCAGAGCCCCTGGAGGACCTGGACCCCTACTATATCAATAAGAAAG
137853285	166061	NM_000053.3(ATP7B):c.2128G>A (p.Gly710Ser)	ATP7B	Jun 01, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline	13	51958538	GCCTTCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTTCAGGCCTACA
-1	424395	NM_003136.3(SRP54):c.677G>A (p.Gly226Glu)	SRP54	Jul 14, 2017	MedGen:C0272170,OMIM:260400,Orphanet:ORPHA811,SNOMED CT:89454001	Shwachman syndrome	de novo	14	35013386	ACATTGTTTATGTGATGGATGCCTCCATTGGGCAGGCTTGTGAAGCCCAGGCTAAGGCTTT
193929358	34045	NM_000525.3(KCNJ11):c.1001G>A (p.Gly334Asp)	KCNJ11	Jul 05, 2011	MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885	Permanent neonatal diabetes mellitus	not provided	11	17387091	GACGTTACTCTGTGGACTACTCCAAGTTTGGCAACACCGTCAAAGTGCCCACACCACTCTG
868256749	107255	NM_173812.4(DPY19L2):c.1218+1G>A	DPY19L2	Mar 10, 2014	MedGen:C3151407,OMIM:613958	Spermatogenic failure 9	germline	12	63617303	TATTATTCTTCATCTTTGTTAATGACGTGGGTAAGTGTTTAGTTCATAAAGTTGGTTTTTT
587779654	107143	NM_000090.3(COL3A1):c.2870G>A (p.Gly957Asp)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	189004303	TTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCATGCCAGGTCC
372128852	260673	NM_000050.4(ASS1):c.970+5G>A	ASS1	Jul 14, 2017	MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187;MedGen:C0175683,OMIM:215700,Orphanet:ORPHA187	Citrullinemia type I;Citrullinemia type I	germline	9	130489469	GAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGC
397507510	48965	NM_002834.4(PTPN11):c.181G>A (p.Asp61Asn)	PTPN11	Aug 01, 2017	MedGen:CN074218,OMIM:151100;MedGen:C0041409,OMIM:163950;MedGen:C1860991,OMIM:609942;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	LEOPARD syndrome 1;Noonan syndrome 1;Noonan syndrome 3;Rasopathy;not provided	germline	12	112450361	GTCACCCACATCAAGATTCAGAACACTGGTGATTACTATGACCTGTATGGAGGGGAGAAAT
758609113	211421	NM_000507.3(FBP1):c.355G>A (p.Asp119Asn)	FBP1	Mar 27, 2017	MedGen:C0016756,OMIM:229700,Orphanet:ORPHA348,SNOMED CT:28183005;MedGen:CN517202	Fructose-biphosphatase deficiency;not provided	germline;not applicable	9	94617839	TGTGCTCAGGGTAAATATGTGGTCTGTTTTGATCCCCTTGATGGATCTTCCAACATCGATT
121908723	17007	NM_000022.3(ADA):c.646G>A (p.Gly216Arg)	ADA	Aug 27, 2017	MedGen:C1863236,OMIM:102700,Orphanet:ORPHA277;MedGen:CN517202	Severe combined immunodeficiency due to ADA deficiency;not provided	germline;unknown	20	44623039	AAGAGCGGCATTCACCGTACTGTCCACGCCGGGGAGGTGGGCTCGGCCGAAGTAGTAAAAG
-1	482137	NM_000088.3(COL1A1):c.3207+1G>A	COL1A1	Jan 10, 2018	MedGen:CN517202	not provided	germline	17	50188529	GCTGGCAAGAGTGGTGATCGTGGTGAGACTGTAAGTAGCTGGGCTCCAGTTCCCTGTACCT
137853579	29853	NM_001558.3(IL10RA):c.421G>A (p.Gly141Arg)	IL10RA	Nov 19, 2009	MedGen:C4016214	Inflammatory bowel disease 28	germline	11	117993294	AACCTAGAGATCCACAATGGCTTCATCCTCGGGAAGATTCAGCTACCCAGGCCCAAGATGG
1114167310	247346	NM_005267.4(GJA8):c.484G>A (p.Glu162Lys)	GJA8	Jul 29, 2016	Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Congenital cataract	inherited	1	147908439	ATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCC
199469631	106427	NM_017415.2(KLHL3):c.1295G>A (p.Ser432Asn)	KLHL3	-	Gene:7830,MedGen:C1449844,OMIM:145260,Orphanet:ORPHA757,SNOMED CT:15689008	Pseudohypoaldosteronism, type 2	germline	5	137637320	TCTTTGTGGCCCCGATGAACACGCGGCGGAGCAGTGTGGGTGTGGGCGTTGTGGAGGGTAA
398123169	98374	NM_000152.4(GAA):c.1465G>A (p.Asp489Asn)	GAA	Jun 30, 2017	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80110754	CAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGT
886037955	249190	NM_206876.1(PPP1CB):c.820G>A (p.Glu274Lys)	PPP1CB	May 31, 2017	MedGen:CN244048,OMIM:617506;MedGen:CN517202	Noonan syndrome-like disorder with loose anagen hair 2;not provided	germline	2	28793938	ACCTTATTTTCAGCCCCAAATTACTGTGGCGAGTTTGATAATGCTGGTGGAATGATGAGTG
36211723	45266	NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	MYBPC3	Oct 12, 2017	MedGen:CN230736;MedGen:C1861862,OMIM:115197;MedGen:C1861862,OMIM:115197;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C3715165,OMIM:615396;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10;Primary familial hypertrophic cardiomyopathy	germline;unknown	11	47338520	GACCAGGTCAACCTCACAGTCAAGGTCATCGGTGAGGCCGGCCGGGGTCCAAGCTGGAGAA
281875318	38818	NM_006907.3(PYCR1):c.769G>A (p.Ala257Thr)	PYCR1	Sep 01, 2009	MedGen:C3280799,OMIM:614438,Orphanet:ORPHA293633;MedGen:CN517202	Autosomal recessive cutis laxa type 3B;not provided	germline	17	81934354	AGTGGGGGCTTCCGCTCCCTGCTCATCAACGCTGTGGAGGCCTCCTGCATCCGCACACGGT
34716011	47251	NM_000518.4(HBB):c.48G>A (p.Trp16Ter)	HBB	Aug 12, 2017	MedGen:C0005283,OMIM:613985,Orphanet:ORPHA848,SNOMED CT:65959000;MedGen:CN517202	beta Thalassemia;not provided	germline	11	5226974	TGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGT
587776989	70463	NM_001142864.3(PIEZO1):c.6058G>A (p.Ala2020Thr)	PIEZO1	Feb 19, 2016	Gene:10774,MedGen:C0272051,OMIM:194380,Orphanet:ORPHA3202,SNOMED CT:87994004;MedGen:CN517202	Xerocytosis;not provided	germline	16	88720175	ATCCAGTTCAGTACCATGGTGGTTGACCGCGCCCTCTACCTGCGCAAGACCGTGCTGGGCA
67879854	441976	NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)	COL1A1	Jan 17, 2017	MedGen:CN517202	not provided	germline	17	50190578	CCTTGCTCTCAGGGTGAAAGTGGTCCCAGCGGCCCTGCTGGTCCCACTGGAGCTCGTGGTG
121918449	28601	NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr)	ITGB3	Aug 04, 2016	MedGen:C0040015,OMIM:273800,Orphanet:ORPHA849,SNOMED CT:32942005	Glanzmann thrombasthenia	germline	17	47291027	AAGAGTTGTCTCTATCCTTCAATGCCACCTGCCTCAACAATGAGGTCATCCCTGGCCTCAA
113994095	28535	NM_002693.2(POLG):c.1399G>A (p.Ala467Thr)	POLG	Oct 19, 2017	MedGen:C1834846,OMIM:157640;MedGen:C1834846,OMIM:157640;MedGen:C1850303,OMIM:258450,Orphanet:ORPHA254886;MedGen:C1850303,OMIM:258450,Orphanet:ORPHA254886;MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298;MedGen:C3150914,OMIM:613662;MedGen:C0751651,Orphanet:ORPHA68380;MedGen:C1843852;MedGen:CN239393;MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED CT:20415001;MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED CT:20415001;MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595;MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595;MedGen:CN517202	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial DNA depletion syndrome 4B, MNGIE type;Mitochondrial diseases;Myoclonic epilepsy myopathy sensory ataxia;POLG-Related Spectrum Disorders;Progressive sclerosing poliodystrophy;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;not provided	germline;maternal;unknown	15	89327201	CGGGAGATGAAGAAGTCGTTGATGGATCTGGCCAATGATGCCTGCCAGCTGCTCTCAGGAG
397516285	52316	NM_000260.3(MYO7A):c.141G>A (p.Trp47Ter)	MYO7A	May 14, 2012	MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169	Usher syndrome, type 1	germline	11	77147806	CTGACGTTCTGGCTCCCCGCAGGAACACTGGATCTCTCCGCAGAACGCAACGCACATCAAG
207459997	24717	m.15615G>A	MT-CYB	Sep 30, 1999	MedGen:C0241885	Exercise intolerance	germline	MT	15615	TTCTCCGATCCGTCCCTAACAAACTAGGAGGCGTCCTTGCCCTATTACTATCCATCCTCAT
387907062	39899	NM_001127464.2(ZNF469):c.10016G>A (p.Cys3339Tyr)	ZNF469	Jan 01, 2010	MedGen:C0268344,OMIM:229200,Orphanet:ORPHA90354,SNOMED CT:31798004	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	germline	16	88437570	CGGTGCACAGCCCGCAGCGCGTCTACCTGTGCCCCCGGTGCCCCCGGGTCTACCCCGAGCA
377767353	46838	NM_005359.5(SMAD4):c.1139G>A (p.Arg380Lys)	SMAD4	Dec 04, 2012	MedGen:C0345893,OMIM:174900,Orphanet:ORPHA329971,SNOMED CT:9273005	Juvenile polyposis syndrome	not provided	18	51065606	TCCACAGGACAGAAGCCATTGAGAGAGCAAGGTATTGATTGTATAGTCAGATAGTTACTTT
367543264	36621	NM_000155.3(GALT):c.904+5G>A	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649086	CTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAAC
397514350	36333	NM_000060.4(BTD):c.298G>A (p.Ala100Thr)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15635677	CTTGACATCTATGAACAGCAAGTGATGACTGCAGCCCAAAAGGCAAGAATGCTCCTCGGAA
61751281	104720	NM_000329.2(RPE65):c.118G>A (p.Gly40Ser)	RPE65	Aug 12, 2016	Human Phenotype Ontology:HP:0000547,MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009;MedGen:CN517202	Retinitis pigmentosa;not provided	germline	1	68446837	ATCACAGGCAGGATCCCCCTCTGGCTCACCGGCAGTCTCCTTCGATGTGGGCCAGGACTCT
121434419	21597	NM_001203.2(BMPR1B):c.1457G>A (p.Arg486Gln)	BMPR1B	Dec 01, 2006	Human Phenotype Ontology:HP:0009372,MedGen:C1832702,OMIM:112600,Orphanet:ORPHA93396	Type A2 brachydactyly	germline	4	95154621	ACAATCCTGCATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCCAAAATGTCAGA
-1	452054	NM_032638.4(GATA2):c.1187G>A (p.Arg396Gln)	GATA2	Jun 30, 2017	MedGen:C3280030,OMIM:614172,Orphanet:ORPHA228423;MedGen:C3279664,OMIM:614038,Orphanet:ORPHA3226	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Lymphedema, primary, with myelodysplasia	germline	3	128481275	TGACCATGAAGAAGGAAGGGATCCAGACTCGGAACCGGAAGATGTCCAACAAGTCCAAGAA
587781208	165763	NM_130838.1(UBE3A):c.1730G>A (p.Trp577Ter)	UBE3A	Feb 14, 2014	MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED CT:76880004	Angelman syndrome	germline	15	25356860	TCACATACGATGAATCTACAAAATTGTTTTGGTTTAATCCATCTTCTTTTGAAACTGAGGG
121909656	31306	NM_182925.4(FLT4):c.3316G>A (p.Glu1106Lys)	FLT4	Jan 01, 2006	MedGen:C1704423,OMIM:153100,Orphanet:ORPHA79452,SNOMED CT:399889006	Hereditary lymphedema type I	germline	5	180614083	GACGTGTGGTCCTTTGGGGTGCTTCTCTGGGAGATCTTCTCTCTGGGTGAGTGCAGGATGG
-1	442651	NM_000702.3(ATP1A2):c.1882G>A (p.Val628Met)	ATP1A2	Mar 13, 2017	MedGen:CN517202	not provided	germline	1	160134538	CCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTG
137853588	28665	NM_000294.2(PHKG2):c.566G>A (p.Gly189Glu)	PHKG2	Nov 01, 1996	MedGen:C2751643,OMIM:613027,Orphanet:ORPHA264580	Glycogen storage disease IXc	germline	16	30756191	ATCTTGGTCCTCTCTCCCCAGAGTTGTGTGGGACCCCAGGGTATCTAGCGCCAGAGATCCT
587780031	133196	NM_000465.3(BARD1):c.3G>A (p.Met1Ile)	BARD1	Nov 05, 2013	MedGen:CN517202	not provided	germline	2	214809567	GAGGAGCCTTTCATCCGAAGGCGGGACGATGCCGGATAATCGGCAGCCGAGGAACCGGCAG
727504247	172354	NM_001001430.2(TNNT2):c.860G>A (p.Trp287Ter)	TNNT2	May 16, 2017	MedGen:C1861864,OMIM:115195;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 2;Primary familial hypertrophic cardiomyopathy;not provided	germline	1	201359217	CCCGCGGGAAGGCTAAAGTCACCGGGCGCTGGAAATAGAGCCTGGCCTCCTTCACCAAAGA
766294940	359102	NM_002936.4(RNASEH1):c.424G>A (p.Val142Ile)	RNASEH1	Jul 29, 2015	MedGen:C4225312,OMIM:616479,Orphanet:ORPHA329336	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	germline	2	3550458	CTTCCTTTTCCCACAGGAGACTTCGTCGTCGTCTACACTGATGGCTGCTGCTCCAGTAATG
-1	440053	NM_002296.3(LBR):c.1174G>A (p.Gly392Arg)	LBR	Jun 01, 2017	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	maternal	1	225411351	GATCTCAAATACTTTTGTGAATTGCGCCCCGGATTGATTGGATGGGTATGTCTGGTTTTTT
104894365	27628	NM_004985.4(KRAS):c.40G>A (p.Val14Ile)	KRAS	Aug 29, 2017	Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006;MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:C1860991,OMIM:609942;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Endometrial carcinoma;Noonan syndrome;Noonan syndrome 3;Rasopathy;not provided	germline;somatic	12	25245345	TATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAGGCAAGAGTGCCTTGACGATACAGCTAA
-1	481864	NM_000494.3(COL17A1):c.662G>A (p.Trp221Ter)	COL17A1	Dec 05, 2017	MedGen:CN517202	not provided	germline	10	104064542	TCCTGGATGCCAACCTTCCCTCCCATGTGTGGTCCTCCACCCTGCCCGCGGGGTCCTCCAT
140599	465123	NM_000138.4(FBN1):c.3458G>A (p.Cys1153Tyr)	FBN1	Jan 27, 2017	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006;MedGen:CN118826,Orphanet:ORPHA91387	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	germline	15	48487317	GCCATCAGCTGTCCCCCAACATCTCCGCGTGTATCGGTAAGGAGAAAGACTTTCACACCAT
72653794	377106	NM_001171.5(ABCC6):c.2420G>A (p.Arg807Gln)	ABCC6	Sep 06, 2016	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005;MedGen:CN517202	Pseudoxanthoma elasticum;not provided	germline	16	16177622	GTAACTTCTACCCCTTCCCTGCCCAGACACGGATTCTCGTGACGCACGCACTCCACATCCT
121912798	32595	NM_001822.5(CHN1):c.937G>A (p.Glu313Lys)	CHN1	Aug 08, 2008	MedGen:C0751083,OMIM:604356	Duane syndrome type 2	germline	2	174811538	TACCGAGTATCAGGATTTAGTGACCTAATTGAAGATGTCAAGATGGCTTTCGACAGAGGTA
121913535	362847	NM_033360.3(KRAS):c.37G>A (p.Gly13Ser)	KRAS	Jul 14, 2015	MeSH:D015179,MedGen:CN236642;Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007	Colorectal Neoplasms;Neoplasm of the thyroid gland;Non-small cell lung cancer	somatic	12	25245348	GAATATAAACTTGTGGTAGTTGGAGCTGGTGGCGTAGGCAAGAGTGCCTTGACGATACAGC
1057517769	359954	NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp)	MYBPC3	Aug 12, 2015	MedGen:CN517202	not provided	germline	11	47332576	ACACTGCTATGCTCTGCTGTGCTGTCCGGGGTAGCCCCAAGGTAGGGAACTTTAGGCGCTG
137854484	31504	NM_000138.4(FBN1):c.3257G>A (p.Cys1086Tyr)	FBN1	Apr 15, 2007	MedGen:C4016054	Marfan syndrome, neonatal	unknown	15	48488193	TATCTCCTGACCTCTGTGGCAGAGGCCAGTGTGTGAACACCCCTGGGGACTTTGAATGCAA
28939081	20198	NM_020632.2(ATP6V0A4):c.2420G>A (p.Arg807Gln)	ATP6V0A4	Nov 01, 2002	MedGen:C1864499	Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss	germline	7	138709633	AGGGCCTCTCTGCTTTCCTGCACGCCCTGCGACTGCACTGGTAAGGATGGTTGTCCCCTGG
111033761	45901	NM_000155.3(GALT):c.777G>A (p.Arg259=)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34648851	GCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCT
766951273	237784	NM_012102.3(RERE):c.3466G>A (p.Gly1156Arg)	RERE	Jan 08, 2018	MedGen:C4310772,OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	germline	1	8359916	CGGACAGACCTGTACTTCATGCCTCTGGCCGGGTCCAAGCTGGCCAAGAAGAGGGAGGAGG
747009288	481828	NM_016023.3(OTUD6B):c.887+1G>A	OTUD6B	Jan 22, 2018	MedGen:CN517202	not provided	germline	8	91084115	AGAATATTCAAAAAAACCACTAATACTTGTGTAAGTACCTAGACATTTTTACTGTTTTATT
121918695	27594	NM_001128177.1(THRB):c.947G>A (p.Arg316His)	THRB	May 01, 1994	MedGen:C1840364,OMIM:145650,Orphanet:ORPHA165994	Thyroid hormone resistance, selective pituitary	germline	3	24127696	AAGGCTGCTGCATGGAGATCATGTCCCTTCGCGCTGCTGTGCGCTATGACCCAGAAAGTGA
794729216	198610	NM_002977.3(SCN9A):c.2690G>A (p.Trp897Ter)	SCN9A	Nov 26, 2013	MedGen:C1855739,OMIM:243000,Orphanet:ORPHA88642	Indifference to pain, congenital, autosomal recessive	germline	2	166277134	AGATCAATGATGACTGTACGCTCCCACGGTGGCACATGAACGACTTCTTCCACTCCTTCCT
727504317	49251	NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn)	MAP2K1	Sep 25, 2017	MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008;MedGen:C3809006,OMIM:615279;Human Phenotype Ontology:HP:0002861,MeSH:D008545,MedGen:C0025202,SNOMED CT:2092003;Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 3;Malignant melanoma;Non-small cell lung cancer;Rasopathy;not provided	germline;somatic	15	66435145	AAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTG
786202724	182676	NM_001127500.2(MET):c.3328G>A (p.Val1110Ile)	MET	May 13, 2016	Human Phenotype Ontology:HP:0030731,MeSH:D002277,MedGen:C0007097;MedGen:C0027672,SNOMED CT:699346009;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006	Carcinoma;Hereditary cancer-predisposing syndrome;Neoplasm	germline;somatic	7	116777403	TCTTTCTTTTGCACAGGGCATTTTGGTTGTGTATATCATGGGACTTTGTTGGACAATGATG
72559715	429199	NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg)	ABCC8	Jul 21, 2016	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline	11	17394379	CTGTTTTCAGATGCCATCATCACAGAAGGCGGGGAGAATTTCAGCCAGGGACAGAGGCAGC
387906521	28125	NM_000321.2(RB1):c.-198G>A	RB1	Jun 05, 2017	MedGen:C0027672,SNOMED CT:699346009;Human Phenotype Ontology:HP:0009919,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:ORPHA790	Hereditary cancer-predisposing syndrome;Retinoblastoma	germline	13	48303715	CGGGAGCCTCGCGGACGTGACGCCGCGGGCGGAAGTGACGTTTTCCCGCGGTTGGACGCGG
199473554	78675	NM_198056.2(SCN5A):c.311G>A (p.Arg104Gln)	SCN5A	May 22, 2016	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38630392	TCGTACTGAATAAAGGCAAGACCATCTTCCGGTTCAGTGCCACCAACGCCTTGTATGTCCT
748840480	183113	NM_000051.3(ATM):c.901+1G>A	ATM	May 18, 2017	MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED CT:68504005;MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009	Ataxia-telangiectasia syndrome;Ataxia-telangiectasia syndrome;Familial cancer of breast;Hereditary cancer-predisposing syndrome	germline;unknown	11	108245027	ATCCGAAAGGAGCCAAAACCCAAGAAAAAGGTATAAAGGAAATGTTTACTGTTTTGAATTT
104894661	18301	NM_000529.2(MC2R):c.319G>A (p.Asp107Asn)	MC2R	Apr 01, 1996	MedGen:C4049650,OMIM:202200	ACTH resistance	germline	18	13885200	AGTTTTGAAACCACAGCCGATGACATCATCGACTCCCTGTTTGTCCTCTCCCTGCTTGGCT
864621964	24260	NM_000435.2(NOTCH3):c.187G>A (p.Ala63Thr)	NOTCH3	Nov 22, 1997	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	germline	19	15197510	GGTCGTTGCACCCAGCTGCCCTCCCGGGAGGCTGCCTGCCTGTGAGTGCCTGGCTCAGAGC
371100799	187220	NM_012130.3(CLDN14):c.167G>A (p.Trp56Ter)	CLDN14	Feb 01, 2012	MedGen:C3279660,OMIM:614035	Deafness, autosomal recessive 29	germline	21	36461529	ACCTGAAAGGGCTCTGGATGGAGTGTGTGTGGCACAGCACAGGCATCTACCAGTGCCAGAT
587784289	169376	NM_000430.3(PAFAH1B1):c.851G>A (p.Trp284Ter)	PAFAH1B1	Feb 08, 2013	MedGen:C1843916,OMIM:607432	Lissencephaly 1	germline	17	2674239	AGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTC
864309501	215001	NM_007126.3(VCP):c.553G>A (p.Glu185Lys)	VCP	Nov 01, 2014	MedGen:C4225244,OMIM:616687,Orphanet:ORPHA435387	Charcot-Marie-Tooth disease, axonal, type 2y	germline	9	35065274	ATTGTTGCTCCAGACACAGTGATCCACTGCGAAGGGGAGCCTATCAAACGAGAGGTGAGTT
786205056	16258	NM_022089.3(ATP13A2):c.1306+5G>A	ATP13A2	Aug 26, 2011	MedGen:C1847640,OMIM:606693,Orphanet:ORPHA306674	Parkinson disease 9	germline	1	16996381	GTTTGTGGCTGCCCTCTCTGTCCTGGGTGAGTGGCCCCCTGCACCCTCCTCTGCCCATAGC
121913624	29126	NM_000257.3(MYH7):c.1208G>A (p.Arg403Gln)	MYH7	Aug 01, 2017	MedGen:C3495498,OMIM:192600;Human Phenotype Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005;MedGen:CN517202	Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	germline	14	23429278	CCGACCTGCTCAAGGGGCTGTGCCACCCTCGGGTGAAAGTGGGCAATGAGTACGTCACCAA
387906754	39031	NM_139125.3(MASP1):c.1997G>A (p.Gly666Glu)	MASP1	Mar 01, 2011	MedGen:C0796059,OMIM:257920	Michels syndrome	germline	3	187235874	GCAAAGACACGTGCCTTGGAGATAGCGGTGGGGCCTTTGTCATCTTTGATGACTTGAGCCA
587777418	137061	NM_139242.3(MTFMT):c.878G>A (p.Ser293Asn)	MTFMT	Mar 01, 2014	MedGen:C3554182,OMIM:614947,Orphanet:ORPHA319524	Combined oxidative phosphorylation deficiency 15	germline	15	65006127	TTAAACTTCTGGATTTGGTAGAAGTTAACAGTTCAGTCCTTGCTGGTACTAACTTTTGAAT
797044858	205338	NM_003159.2(CDKL5):c.514G>A (p.Val172Ile)	CDKL5	Sep 30, 2013	MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	germline	X	18584313	GAAGGCAATAATGCTAATTACACAGAGTACGTTGCCACCAGATGGTATCGGTCCCCAGAAC
1057518416	360548	NM_000116.4(TAZ):c.699+1G>A	TAZ	Nov 16, 2016	MedGen:CN517202	not provided	germline	X	154420265	AGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCT
397515435	48674	NM_194248.2(OTOF):c.1621G>A (p.Gly541Ser)	OTOF	Jul 01, 2017	MedGen:C1832828,OMIM:601071	Deafness, autosomal recessive 9	germline	2	26480968	ACACTGGGCCCAGCCTGGGTGAACATGTACGGCTCCACACGTAACTACACGCTGCTGGATG
199472720	67769	NM_000218.2(KCNQ1):c.776G>A (p.Arg259His)	KCNQ1	Aug 18, 2017	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome;not provided	germline	11	2572105	GGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAGGTGGGTGGCCCGGGTTAGGGGTGCGG
121434263	18310	NM_024529.4(CDC73):c.128G>A (p.Trp43Ter)	CDC73	Dec 01, 2002	Human Phenotype Ontology:HP:0006780,MedGen:C0687150,OMIM:608266,Orphanet:ORPHA143,SNOMED CT:255037004	Parathyroid carcinoma	somatic	1	193122328	CCAAGAATGTGAAGACCAACTATGTTGTTTGGGGGTAAGTCCGGCATGGCTGTGGCCCAGG
768996179	362490	NM_004181.4(UCHL1):c.533G>A (p.Arg178Gln)	UCHL1	Jan 24, 2018	MedGen:C3809665,OMIM:615491,Orphanet:ORPHA352654	Spastic paraplegia 79, autosomal recessive	germline	4	41264109	ACATGCCTGGCTTCTTTGTTACAGATGGACGAATGCCTTTTCCGGTGAACCATGGCGCCAG
370474706	223746	NM_000092.4(COL4A4):c.2986G>A (p.Gly996Arg)	COL4A4	Feb 02, 2016	MedGen:C0241908,OMIM:141200,SNOMED CT:236421001	Benign familial hematuria	de novo	2	227051141	CCAACTTCATCAGGTGATAAAGGAACTCCCGGGATGCAAGGGAGAAGAGGAGAGCCGGGAA
-1	430381	NM_032957.4(RTEL1):c.1207+1G>A	RTEL1	May 11, 2017	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED CT:74911008	Dyskeratosis congenita	germline	20	63679947	TGGACCAGATCATCCAGCACCTGGCAGGACGTGAGTGCTGGCACGGGGTCTTTGGTGCGGG
137853002	19974	NM_033056.3(PCDH15):c.785G>A (p.Gly262Asp)	PCDH15	Dec 15, 2003	MedGen:C1836027,OMIM:609533	Deafness, autosomal recessive 23	germline	10	54317362	CAGTGGATGTTCTGGATGGAGATGACTTGGGTCCAATGTTTCTTCCTTGTGTCCTTGTGCC
137853112	16047	NM_001031710.2(KLHL7):c.449G>A (p.Ser150Asn)	KLHL7	Jun 01, 2009	MedGen:C2751986,OMIM:612943	Retinitis pigmentosa 42	germline	7	23140775	CTTTTATTTTCTTTCTGTGTTTAGGTATAAGTGTGCTAGCGGAGTGTCTAGATTGTCCTGA
104894129	27501	NM_003289.3(TPM2):c.349G>A (p.Glu117Lys)	TPM2	Feb 28, 2017	MedGen:C0220662,OMIM:108120;MedGen:C1836447,OMIM:609285;MedGen:CN517202	Arthrogryposis multiplex congenita distal type 1;Nemaline myopathy 4;not provided	de novo;germline	9	35685672	GCTACAGCCCTGCAGAAGCTGGAGGAGGCCGAGAAGGCGGCTGATGAGAGCGAGAGGTGGT
1131692037	423091	NM_023936.1(MRPS34):c.37G>A (p.Glu13Lys)	MRPS34	Sep 16, 2017	MedGen:CN469327,OMIM:617664;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32;Leigh syndrome	germline;not applicable	16	1773083	CGGAAGAAGGTGCGTCCGCGGCTGATCGCGGAGCTGGCCCGCCGCGTGCGCGCCCTGCGGG
777162250	212124	NM_024753.4(TTC21B):c.684G>A (p.Trp228Ter)	TTC21B	Aug 31, 2015	MedGen:C0265275,Orphanet:ORPHA474,SNOMED CT:75049004	Jeune thoracic dystrophy	germline	2	165941053	AATGAAATTACAACTAGCCTTGCAGGATTGGGACCAGACAGTTGAGACAGCACAAAGGTTA
121434246	18379	NM_000348.3(SRD5A2):c.344G>A (p.Gly115Asp)	SRD5A2	Jun 12, 2017	MedGen:C0268297,OMIM:264600,Orphanet:ORPHA753,SNOMED CT:57514000	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	germline	2	31533704	GGCCTTATCCAGCTATACTCATTCTCAGAGGCACTGCCTTCTGCACTGGAAATGGAGTCCT
104894889	25992	NM_000475.4(NR0B1):c.704G>A (p.Trp235Ter)	NR0B1	Dec 15, 1994	MedGen:C0342482,OMIM:300200,SNOMED CT:237764004	Congenital adrenal hypoplasia, X-linked	germline	X	30308660	CGGCTCCGGAGGAGCGGCCGAGGGCCCCCTGGTGGGACACCTCCTCTGGTGCGCTGCGGCC
387907018	39759	NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys)	TMPRSS6	May 28, 2009	Human Phenotype Ontology:HP:0001935,MedGen:C0085576,OMIM:206200,Orphanet:ORPHA209981,SNOMED CT:234349007	Microcytic anemia	germline	22	37073550	GGGCAGCCTGATTGTCTCAACGGCAGCGACGAAGAGCAGTGCCAGGAAGGTAGGGCAGGCC
-1	445275	NM_130838.2(UBE3A):c.1548+1G>A	UBE3A	Mar 08, 2016	MedGen:CN517202	not provided	germline	15	25370565	GACCATATCATAGATGATGCACTTGTCCGGGTAAGTTGGGCTGCTAGATTAAAAACCTAAT
121917842	23142	NM_006261.4(PROP1):c.218G>A (p.Arg73His)	PROP1	Sep 01, 2001	MedGen:C0878683,OMIM:262600	Pituitary hormone deficiency, combined 2	germline	5	177994230	GGGGCCGCCCGCACTCCCGGCGCCGCCACCGCACCACCTTCAGCCCAGTGCAGTTGGAACA
386134200	36715	NM_003060.3(SLC22A5):c.652+1G>A	SLC22A5	Apr 24, 2017	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004	Renal carnitine transport defect	germline	5	132384302	TCTCCAACTATGTGGCAGCATTTGTCCTGGGTATGGCCATCAGGTTGGAGTTGAGTACTTG
768795323	434147	NM_174936.3(PCSK9):c.658G>A (p.Ala220Thr)	PCSK9	-	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	1	55052650	TCTCATGTGGTCCTTGTGTTCGTCGAGCAGGCCAGCAAGTGTGACAGTCATGGCACCCACC
121918011	28714	NM_000478.5(ALPL):c.407G>A (p.Arg136His)	ALPL	Jun 14, 2016	MedGen:C0220743,OMIM:241510,SNOMED CT:30174008;MedGen:C0020630,Orphanet:ORPHA436;Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002	Childhood hypophosphatasia;Hypophosphatasia;Infantile hypophosphatasia	germline;unknown	1	21563219	GCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCCAGGGGAACGA
121912829	32463	NM_000094.3(COL7A1):c.6118G>A (p.Gly2040Ser)	COL7A1	Apr 26, 1994	MedGen:C0432322,OMIM:131750,Orphanet:ORPHA231568	Generalized dominant dystrophic epidermolysis bullosa	germline	3	48575401	TCCGGCCTTGCCGGGGAGCCTGGAAAGCCTGGTATTCCCGGGCTCCCAGGCAGGGCTGGGG
74315407	28442	NM_000311.4(PRNP):c.628G>A (p.Val210Ile)	PRNP	Jun 13, 2017	MedGen:C0162534,Orphanet:ORPHA56970;MedGen:C1864112,OMIM:603218,Orphanet:ORPHA157941;MedGen:C0022336,OMIM:123400,Orphanet:ORPHA204,SNOMED CT:792004	Genetic prion diseases;Huntington disease-like 1;Jakob-Creutzfeldt disease	germline	20	4699848	GAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGA
1060501325	391443	NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter)	MUTYH	Oct 17, 2016	MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798	MYH-associated polyposis	germline	1	45331462	CAAGGCCCTGCTGCAGGAACTACAGCGTTGGGCTGGGCCCCTCCCAGCCACGCACCTCCGG
199474674	24596	m.5532G>A	MT-TW	Jun 01, 2004	MedGen:C4016629	Neurogastrointestinal syndrome, mitochondrial	germline	MT	5532	ATAATCTTATAGAAATTTAGGTTAAATACAGACCAAGAGCCTTCAAAGCCCTCAGTAAGTT
-1	481211	NM_078480.2(PUF60):c.389G>A (p.Arg130His)	PUF60	Oct 27, 2017	MedGen:C3810023,OMIM:615583	Verheij syndrome	de novo	8	143818494	AGCGGCAGCGGGCGCTGGCCATCATGTGCCGCGTCTACGTGGGCTCTATCTACTATGAGCT
387906949	39563	NM_000520.5(HEXA):c.173G>A (p.Cys58Tyr)	HEXA	Sep 21, 2011	MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000	Tay-Sachs disease	germline	15	72375800	ACGATGTCAGCTCGGCCGCGCAGCCCGGCTGCTCAGTCCTCGACGAGGCCTTCCAGCGCTA
387907023	39778	NM_017837.3(PIGV):c.467G>A (p.Cys156Tyr)	PIGV	Jul 07, 2016	MedGen:C1855923,OMIM:239300,Orphanet:ORPHA247262;MedGen:CN517202	Hyperphosphatasia with mental retardation syndrome 1;not provided	germline	1	26794501	ACCAGTCCTTTTATGCAGCTCTGCTTTTCTGTCTCAGCCCTGCCAATGTCTTCCTGGCAGC
397507997	67306	NM_000059.3(BRCA2):c.8632+1G>A	BRCA2	Jul 18, 2017	MedGen:C2675520,OMIM:612555;MedGen:C0027672,SNOMED CT:699346009	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	germline	13	32371101	AAATTCAGGAGGAATTTGAAGAACATGAAGGTAAAATTAGTTATATGGTACACATTGTTAT
104894126	27841	NM_004959.4(NR5A1):c.271G>A (p.Gly91Ser)	NR5A1	Mar 01, 2007	MedGen:C2751824,OMIM:612965,Orphanet:ORPHA98085	46,XY sex reversal, type 3	germline	9	124500689	ACAGCCGTGCGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAAGC
483352811	106555	NM_170707.3(LMNA):c.1620G>A (p.Met540Ile)	LMNA	Apr 30, 2016	MedGen:CN236772	Mandibuloacral dysplasia with type A lipodystrophy	germline	1	156137665	GGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTT
121908510	20697	NM_014946.3(SPAST):c.1343G>A (p.Cys448Tyr)	SPAST	Nov 01, 1999	MedGen:C1866855,OMIM:182601,Orphanet:ORPHA100985	Spastic paraplegia 4, autosomal dominant	germline	2	32136898	TTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAG
397514666	48778	NM_004625.3(WNT7A):c.214G>A (p.Glu72Lys)	WNT7A	Feb 01, 2011	MedGen:C1848651,OMIM:276820	Ulna and fibula absence of with severe limb deficiency	germline	3	13875031	ATAGGAGAAGGCTCACAAATGGGCCTGGACGAGTGTCAGTTTCAGTTCCGCAATGGCCGCT
879255134	246505	NM_000527.4(LDLR):c.2087G>A (p.Cys696Tyr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120469	AGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAG
386134210	36735	NM_003060.3(SLC22A5):c.845G>A (p.Arg282Gln)	SLC22A5	May 05, 2016	MedGen:C0342788,OMIM:212140,Orphanet:ORPHA158,SNOMED CT:21764004;MedGen:CN517202	Renal carnitine transport defect;not provided	germline	5	132387045	GTACTGCCAGGTTCATCCCTGAGTCCCCCCGATGGCTCATCTCTCAGGGACGATTTGAAGA
72657333	456971	NM_001277115.1(DNAH11):c.5778+1G>A	DNAH11	May 22, 2017	Human Phenotype Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244	Ciliary dyskinesia	germline	7	21687256	TTCAACTGTTCAGAGCAAATGGACTACAAAGTAAGTTAGTAAGAGAATAATGTGTAAAACT
1060501054	400627	NM_000138.4(FBN1):c.6695G>A (p.Cys2232Tyr)	FBN1	Jul 05, 2016	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48432910	TGAACACTTATGGGTCATATGAATGCAAATGTCCCGTGGGATATGTGCTCAGAGAAGACCG
193922525	44545	NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp)	CFTR	Mar 17, 2017	MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED CT:190905008;MedGen:CN236562	Cystic fibrosis;ivacaftor response - Efficacy	germline;unknown	7	117664770	TTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATC
28936688	23293	NM_000020.2(ACVRL1):c.1031G>A (p.Cys344Tyr)	ACVRL1	Jun 20, 2017	MedGen:C1838163,OMIM:600376;MedGen:C1832529;MedGen:CN169374	Hereditary hemorrhagic telangiectasia type 2;Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia;not specified	germline	12	51915483	GCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGG
-1	441316	NM_000368.4(TSC1):c.1264-1G>A	TSC1	Feb 28, 2017	MedGen:CN517202	not provided	germline	9	132907371	CTTGTGATATAAATGATACTTATCTTTTCAGGAAGAGAGAATGGATTCTGCAAGACCATGT
11146842	26351	NM_000033.3(ABCD1):c.1850G>A (p.Arg617His)	ABCD1	Apr 23, 2015	MedGen:C0162309,OMIM:300100,Orphanet:ORPHA43,SNOMED CT:65389002	Adrenoleukodystrophy	germline	X	153743056	GTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGC
121908260	28430	NM_000207.2(INS):c.137G>A (p.Arg46Gln)	INS	Apr 01, 2008	MedGen:C3150617,OMIM:613370	Maturity-onset diabetes of the young, type 10	germline	11	2160835	TGGAAGCTCTCTACCTAGTGTGCGGGGAACGAGGCTTCTTCTACACACCCAAGACCCGCCG
28935470	26795	NM_001110556.1(FLNA):c.760G>A (p.Glu254Lys)	FLNA	Feb 11, 2015	MedGen:C0265251,OMIM:311300,Orphanet:ORPHA90650,SNOMED CT:54036001;MedGen:C1844696,OMIM:304120,Orphanet:ORPHA90652,SNOMED CT:42432003;MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Oto-palato-digital syndrome, type I;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	germline	X	154367505	CCCGAGGAGATTGTGGACCCCAACGTGGACGAGCACTCTGTCATGACCTACCTGTCCCAGT
121909053	22128	NM_001122752.1(SERPINI1):c.1175G>A (p.Gly392Glu)	SERPINI1	May 25, 2016	MedGen:C1858680,OMIM:604218,Orphanet:ORPHA85110	Encephalopathy, familial, with neuroserpin inclusion bodies	de novo;germline	3	167825265	GAACCAATACAGGTACAATTCTATTCATGGGACGAGTCATGCATCCTGAAACAATGAACAC
886037942	432363	NM_004171.3(SLC1A2):c.244G>A (p.Gly82Arg)	SLC1A2	Sep 18, 2017	MedGen:C4310717,OMIM:617105	Epileptic encephalopathy, early infantile, 41	germline	11	35315089	CCTGATGTGGTTATGTTAATAGCCTTCCCAGGGGATATACTCATGAGGATGCTAAAAATGC
58760581	426805	NM_001171.5(ABCC6):c.4208+9G>A	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16154619	CTGACCGAGGCGAGGACCTGAGGTATGGTCGTCCCACCATGGCTGGGACCTGCAGGTGGGA
104894664	28476	NM_000371.3(TTR):c.133G>A (p.Ala45Thr)	TTR	May 01, 1992	MedGen:C2751492,OMIM:105210,SNOMED CT:43532007,SNOMED CT:442012008	Amyloidogenic transthyretin amyloidosis	germline	18	31592959	AAAGTTCTAGATGCTGTCCGAGGCAGTCCTGCCATCAATGTGGCCGTGCATGTGTTCAGAA
796052019	200253	NM_000282.3(PCCA):c.425G>A (p.Gly142Asp)	PCCA	Jul 29, 2016	Human Phenotype Ontology:HP:0003353,MedGen:C0268579,OMIM:606054,Orphanet:ORPHA35;MedGen:CN517202	Propionic acidemia;not provided	germline	13	100157297	TTTTTGCTTTCATTTCTAAGGTACATCCAGGTTATGGATTCCTTTCAGAAAACAAAGAATT
144292455	76986	NM_001059.2(TACR3):c.824G>A (p.Trp275Ter)	TACR3	Jun 14, 2016	MedGen:C3553844,OMIM:614840;MedGen:CN239347	Hypogonadotropic hypogonadism 11 with or without anosmia;Isolated GnRH Deficiency	germline	4	103656258	TTACATACACCATTGTTGGAATTACTCTCTGGGGAGGAGAAATCCCAGGAGATACCTGTGA
1035139364	20085	NM_015665.5(AAAS):c.1087+1G>A	AAAS	Nov 01, 2001	MedGen:C0271742,OMIM:231550,Orphanet:ORPHA869,SNOMED CT:45414006	Glucocorticoid deficiency with achalasia	germline	12	53308724	TTTACTCCCTGTCTTTTCCAGAACGTTGTGGTGAGTTAGGGCAACACTTCAGTATTTGGGG
886043399	270695	NM_000152.4(GAA):c.1754+1G>A	GAA	Mar 03, 2016	MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED CT:124462004,SNOMED CT:237967002	Glycogen storage disease, type II	germline	17	80112101	CGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCT
104886147	35802	NM_000495.4(COL4A5):c.1912G>A (p.Gly638Ser)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108598834	CCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGTGGCAGGAAATCCAGGCCAGCCAGGAA
397514535	48170	NM_001168272.1(ITPR1):c.4639G>A (p.Val1547Met)	ITPR1	Sep 17, 2012	MedGen:C1861732,OMIM:117360,Orphanet:ORPHA208513	Spinocerebellar ataxia 29	germline	3	4706193	GCAGCCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCT
111033547	32512	NM_000493.3(COL10A1):c.1953G>A (p.Trp651Ter)	COL10A1	Jan 01, 1995	MedGen:C0265289,OMIM:156500,Orphanet:ORPHA174,SNOMED CT:29248006	Metaphyseal chondrodysplasia, Schmid type	germline	6	116120163	CATCGATCTCACAGAAAATGACCAGGTGTGGCTCCAGCTTCCCAATGCCGAGTCAAATGGC
28941770	18935	NM_000520.5(HEXA):c.533G>A (p.Arg178His)	HEXA	Nov 08, 2017	na;MedGen:C0039373,OMIM:272800,Orphanet:ORPHA845,SNOMED CT:111385000;MedGen:C1848916;MedGen:CN517202	Hexa, dn allele;Tay-Sachs disease;Tay-Sachs disease, B1 variant;not provided	germline;paternal;unknown	15	72353105	CTCACCGGGGCTTGCTGTTGGATACATCTCGCCATTACCTGCCACTCTCTAGCATCCTGGA
386833596	15210	NM_000274.3(OAT):c.1172G>A (p.Trp391Ter)	OAT	Jun 01, 1992	Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004	Ornithine aminotransferase deficiency	germline	10	124398090	TTTACTATTTTTCTTTAGATTGGGATGCTTGGAAGGTGTGTCTACGACTTCGAGATAATGG
587783796	169966	NM_000252.2(MTM1):c.145G>A (p.Val49Ile)	MTM1	Feb 08, 2013	MedGen:C0410203,OMIM:310400,Orphanet:ORPHA596,SNOMED CT:46804001	Severe X-linked myotubular myopathy	germline	X	150598600	GGTACTTTTTTTATCTTAATAGACAAAGAAGTTATTTACATATGTCCTTTCAATGGCCCCA
387906613	38619	NM_005266.6(GJA5):c.253G>A (p.Val85Ile)	GJA5	Oct 01, 2010	MedGen:C3279693,OMIM:614049	Atrial fibrillation, familial, 11	germline	1	147758986	ATTCGCTACTGGGTGCTGCAGATCATCTTCGTCTCCACGCCCTCTCTGGTGTACATGGGCC
118204113	16511	NM_000190.3(HMBS):c.754G>A (p.Ala252Thr)	HMBS	Dec 01, 1993	MedGen:C0162565,OMIM:176000,Orphanet:ORPHA79276,SNOMED CT:234422006	Acute intermittent porphyria	germline	11	119092506	GAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGC
267607950	96065	NM_000251.2(MSH2):c.1276+1G>A	MSH2	Aug 10, 2017	MedGen:C0027672,SNOMED CT:699346009;MedGen:C0009405,Orphanet:ORPHA443090;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome	germline	2	47429942	ATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCT
137852589	485849	NM_000044.4(AR):c.2343G>A (p.Met781Ile)	AR	Mar 23, 2009	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004	Androgen resistance syndrome	germline	X	67721857	TCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTC
111033718	36537	NM_001258332.1(GALT):c.197G>A (p.Gly66Asp)	GALT	Feb 06, 2017	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006;MedGen:CN169374	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;not specified	germline	9	34648131	TCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCC
-1	429148	NM_004523.3(KIF11):c.2548-1G>A	KIF11	Mar 02, 2017	MedGen:C1835265,OMIM:152950,Orphanet:ORPHA2526	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	germline	10	92648211	AGTAATAAATATTTATTTGCATCATTTACAGGTTGTAAGCCAATGTTGTGAGGCTTCAAGT
72658176	32306	NM_000089.3(COL1A2):c.2251G>A (p.Gly751Ser)	COL1A2	Dec 21, 2017	MedGen:C0268362,OMIM:259420,Orphanet:ORPHA216812,SNOMED CT:385483009	Osteogenesis imperfecta type III	germline	7	94420604	AGAGGAGCCAAAGGGCCTAAGGGTGAAAACGGTGTTGTTGGTCCCACAGGCCCCGTTGGAG
79228041	33246	NM_000477.6(ALB):c.1780G>A (p.Glu594Lys)	ALB	Jun 06, 2012	na	ALBUMIN B	germline	4	73419634	AAGGCTGACGATAAGGAGACCTGCTTTGCCGAGGAGGTACTACAGTTCTCTTCATTTTAAT
121907896	18555	NM_144585.3(SLC22A12):c.269G>A (p.Arg90His)	SLC22A12	Jun 14, 2016	MedGen:C0473219,OMIM:220150,SNOMED CT:236478009	Familial renal hypouricemia	germline	11	64591825	GCCCCAACCAGAGGCCCCACCAGTGCCGCCGCTTCCGCCAGCCACAGTGGCAGCTCTTGGA
730880290	178428	NM_016373.3(WWOX):c.1005G>A (p.Trp335Ter)	WWOX	Jan 01, 2015	MedGen:C4015519,OMIM:616211	Epileptic encephalopathy, early infantile, 28	germline	16	78432701	TATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCG
727503725	172768	NM_206933.2(USH2A):c.6398G>A (p.Trp2133Ter)	USH2A	Apr 08, 2010	MedGen:C1848634,OMIM:276901	Usher syndrome, type 2A	germline	1	216000490	GCACACATGTGGGCTGTACAAACAGTTCCTGGGTCCTACTGTACACAGCACAGCTGCCACC
1064795282	409849	NM_016239.3(MYO15A):c.4032+1G>A	MYO15A	Mar 06, 2017	MedGen:CN517202	not provided	germline	17	18127166	ATGAACCAGAAACGGGAGGTCATGCAGCAGGTGAGTCTACCTGTCTCCCCAGGACCCTAGG
201869739	100267	NM_003494.3(DYSF):c.937+1G>A	DYSF	Dec 11, 2015	MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268;MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448	Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1	germline	2	71520209	TGGACGTGGGCACCATTTACAGAGAGCCCCGTGAGTTCTCACCACTTTGGCCGTATCCTTG
587777262	131951	NM_021978.3(ST14):c.2269+1G>A	ST14	Apr 01, 2009	MedGen:C1865595,OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	germline	11	130208685	TCACGGGCTGGGGACACACCCAGTATGGAGGTAAGCTTCGGGCTGACCTAGGGCTCCGCAG
121434638	23952	NM_006757.3(TNNT3):c.188G>A (p.Arg63His)	TNNT3	Jul 14, 2017	MedGen:CN233042;MedGen:C1834523,OMIM:601680,Orphanet:ORPHA1147;MedGen:CN517202	Arthyrgryposis, distal, type 2B;Distal arthrogryposis type 2B;not provided	de novo;germline	11	1933737	GCCCCTGCCCACAGGACATCCAGAAGAAGCGTCAGAACAAAGACCTAATGGAGCTCCAGGC
-1	457084	NM_000089.3(COL1A2):c.2756G>A (p.Gly919Asp)	COL1A2	Aug 08, 2017	MedGen:C0268335,OMIM:130000,Orphanet:ORPHA287,SNOMED CT:20766005,SNOMED CT:83470009;MedGen:C0023931,OMIM:166200,SNOMED CT:385482004	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	germline	7	94425199	CTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGATGTGAG
886039273	259378	NM_001242896.1(DEPDC5):c.4397G>A (p.Trp1466Ter)	DEPDC5	Apr 13, 2016	Gene:50987,MedGen:C1858477,OMIM:604364	Epilepsy, familial focal, with variable foci 1	germline	22	31901763	TCCTTTCAGGCTTTGAACCCGAAACGTACTGGGATCGAATGCACCTCTTCCAGGAAGCCAT
886042481	267027	NM_006950.3(SYN1):c.377G>A (p.Trp126Ter)	SYN1	Sep 01, 2015	MedGen:C1845343,OMIM:300491,Orphanet:ORPHA85294	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	germline	X	47619352	TGCTGGTCATCGACGAGCCGCACACCGACTGGTAAGCCACTGCCGCGGACGTCTCCCGTGG
1057519026	359036	NM_001733.4(C1R):c.890G>A (p.Gly297Asp)	C1R	Aug 23, 2016	Gene:791254,MedGen:C0268347,OMIM:130080,Orphanet:ORPHA75392,SNOMED CT:50869007	Ehlers-Danlos syndrome, type 8	germline	12	7088865	TCTTCACAGATGAGTCGGGGGACAGCCGGGGCTGGAAGCTGCGCTACACCACCGAGAGTAA
104894803	26753	NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter)	EFNB1	Jun 01, 2006	MedGen:C0220767,OMIM:304110	Craniofrontonasal dysplasia	germline	X	68829886	CGCTGGCCAAGAACCTGGAGCCCGTATCCTGGAGCTCCCTCAACCCCAAGTGAGTAACTTA
-1	434927	NM_000944.4(PPP3CA):c.1339G>A (p.Ala447Thr)	PPP3CA	Jan 22, 2018	MedGen:CN547334,OMIM:617711	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	germline	4	101032267	CTTTCTGGAGGGAAGCAAACCCTGCAAAGCGGTAAGCAGGCTGATGGGTATGACTGTGTGC
119103230	16949	NM_000411.6(HLCS):c.1741G>A (p.Gly581Ser)	HLCS	Nov 01, 2001	MedGen:C0268581,OMIM:253270,Orphanet:ORPHA79242	Holocarboxylase synthetase deficiency	germline	21	36759781	GATATTTATTACAGTGACCTCATGAAGATCGGCGGAGTTCTGGTTAACTCAACACTCATGG
796051855	16069	NM_020223.3(FAM20C):c.1446-1G>A	FAM20C	Nov 01, 2007	MedGen:C1850106,OMIM:259775,Orphanet:ORPHA1832	Raine syndrome	germline	7	258645	GCCCTTGACAATTCTGCTTTTCTTCTGGAAGGTTTGGGAAGTATTCGCACGACGAGCTCTC
121913586	204407	NM_000530.7(MPZ):c.499G>A (p.Gly167Arg)	MPZ	Mar 26, 2015	MedGen:C0270912,OMIM:118200,Orphanet:ORPHA101082,SNOMED CT:42986003	Charcot-Marie-Tooth disease, demyelinating, type 1b	germline	1	161306414	GTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCT
119485088	20069	NM_022041.3(GAN):c.1456G>A (p.Glu486Lys)	GAN	Nov 01, 2000	MedGen:C1850386,OMIM:256850,Orphanet:ORPHA643,SNOMED CT:128207002	Giant axonal neuropathy	germline	16	81365432	GTCCGAAGTCGTGAGGACGCCCAGGGTAGCGAGATGGTAACTTGCAAGTCCGAGTTCTACC
104894332	32875	NM_000486.5(AQP2):c.772G>A (p.Glu258Lys)	AQP2	Jul 01, 1998	MedGen:C4015885	Diabetes insipidus, nephrogenic, autosomal dominant	germline	12	49955564	GAGCGCGAGGTGCGACGGCGGCAGTCGGTGGAGCTGCACTCGCCGCAGAGCCTGCCACGGG
773048903	200772	NM_000709.3(BCKDHA):c.476G>A (p.Arg159Gln)	BCKDHA	Jan 01, 2012	MedGen:C0024776,OMIM:248600,SNOMED CT:27718001	Maple syrup urine disease	paternal	19	41414149	ACAACACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGTTTGGC
113994171	33871	NM_000018.3(ACADVL):c.1679-6G>A	ACADVL	Jun 26, 2017	MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005;MedGen:CN517202	Very long chain acyl-CoA dehydrogenase deficiency;not provided	germline;unknown	17	7224636	GCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCT
-1	488171	NM_004183.3(BEST1):c.910G>A (p.Asp304Asn)	BEST1	Jan 21, 2015	MedGen:C0339510,OMIM:153700,Orphanet:ORPHA1243,SNOMED CT:90036004	Vitelliform macular dystrophy type 2	germline	11	61959540	CTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGA
886043752	272127	NM_000070.2(CAPN3):c.1801-1G>A	CAPN3	May 12, 2016	MedGen:C1869123,OMIM:253600,Orphanet:ORPHA267	Limb-girdle muscular dystrophy, type 2A	germline	15	42408210	TTCCTTCCTGCCTCCTCCCTCCTCTCTCCAGCCCATCATCTTCGTTTCGGACAGAGCAAAC
-1	444935	NM_000545.6(HNF1A):c.527-1G>A	HNF1A	Nov 02, 2017	MedGen:CN517202	not provided	germline	12	120993519	GTACCCCACTCACGGCTTTCTGTGCCTGCAGAGTTCACCCATGCAGGGCAGGGAGGGCTGA
773204795	359192	NM_001010874.4(TECRL):c.587G>A (p.Arg196Gln)	TECRL	Dec 08, 2016	Gene:100653371,MedGen:C3151463,OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3	germline	4	64309896	CTTGCTTCTGTCATTGTATACACTACATCCGATACCTTTTGGAAACCTTATTTGTTCACAA
104894119	27835	NM_004959.4(NR5A1):c.275G>A (p.Arg92Gln)	NR5A1	May 24, 2017	MedGen:CN244002,OMIM:617480;MedGen:C2751824,OMIM:612965,Orphanet:ORPHA98085;MedGen:CN244003	46,XX sex reversal 4;46,XY sex reversal, type 3;ADRENAL INSUFFICIENCY, NR5A1-RELATED	not provided	9	124500685	CCGTGCGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAAGCGGGA
137852327	25425	NM_000402.4(G6PD):c.961G>A (p.Val321Met)	G6PD	Jun 15, 2017	MedGen:C2720289,OMIM:300908,Orphanet:ORPHA466026;na;na;MedGen:C0017758,Orphanet:ORPHA362	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD JAMMU;G6PD VIANGCHAN;Glucose 6 phosphate dehydrogenase deficiency	germline;unknown	X	154533122	TTCTCTCCCTTGGCTTTCTCTCAGGTCAAGGTGTTGAAATGCATCTCAGAGGTGCAGGCCA
104894842	25780	NM_000169.2(GLA):c.1020G>A (p.Trp340Ter)	GLA	Dec 01, 1993	Human Phenotype Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED CT:16652001	Fabry disease	germline	X	101398079	GGTTTTTCAGGGAGACAACTTTGAAGTGTGGGAACGACCTCTCTCAGGCTTAGCCTGGGCT
875989883	227925	NM_000444.5(PHEX):c.1735G>A (p.Gly579Arg)	PHEX	Apr 01, 2017	MeSH:D053098;MedGen:C0733682,OMIM:307800,Orphanet:ORPHA89936,SNOMED CT:82236004;MedGen:CN517202	Familial Hypophosphatemic Rickets;Familial X-linked hypophosphatemic vitamin D refractory rickets;not provided	de novo;germline	X	22219070	CTGAGTTATGGTGCTATAGGAGTAATTGTCGGACATGAATTTACACATGGATTTGATAATA
727502823	172197	NM_006796.2(AFG3L2):c.1875G>A (p.Met625Ile)	AFG3L2	Jan 01, 2015	MedGen:C3280977,OMIM:614487,Orphanet:ORPHA313772	Spastic ataxia 5, autosomal recessive	germline	18	12340306	CTATACCAAAGAGCAGCTCTTGGATAGGATGTGTATGACTTTAGGTGGTCGAGTCTCTGAA
397514434	47160	NM_000060.4(BTD):c.1158G>A (p.Trp386Ter)	BTD	Jun 14, 2016	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	unknown	3	15645014	GGAAGTCCACTGTGATGAGGCCACCAAGTGGAACGTGAATGCTCCTCCCACATTTCACTCT
28936686	23324	NM_033337.2(CAV3):c.277G>A (p.Ala93Thr)	CAV3	Jul 10, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007;MedGen:C4016724;MedGen:CN517202	Long QT syndrome;Rippling muscle disease 2, autosomal recessive;not provided	germline	3	8745688	CCACTGGCCCTGCTCTGGGGCTTCCTGTTCGCCTGCATCTCCTTCTGCCACATCTGGGCGG
886039344	260338	NM_001399.4(EDA):c.706+1G>A	EDA	Jun 05, 2017	MedGen:C0162359,OMIM:305100,SNOMED CT:239007005;MedGen:CN517202	Hypohidrotic X-linked ectodermal dysplasia;not provided	germline	X	70028037	AAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGG
34937870	205166	NM_000392.4(ABCC2):c.3741+1G>A	ABCC2	Dec 22, 2014	MedGen:C0022350,OMIM:237500,Orphanet:ORPHA234,SNOMED CT:44553005	Dubin-Johnson syndrome	germline	10	99842094	GTTGGCTTTGTTCTGTCCAATGCACTCAATGTGAGTTTGAAGGTTGGGAGTTTGGTTTCGT
119103284	17228	NM_207352.3(CYP4V2):c.1523G>A (p.Arg508His)	CYP4V2	Apr 12, 2012	MedGen:C1859486,OMIM:210370,Orphanet:ORPHA41751	Bietti crystalline corneoretinal dystrophy	germline	4	186210586	AGCTTGGTCTAGAAGGACAGTTGATTCTTCGTCCAAGTAATGGCATCTGGATCAAGTTGAA
794728486	197242	NM_000238.3(KCNH2):c.1943G>A (p.Gly648Asp)	KCNH2	Sep 09, 2011	MedGen:CN517202	not provided	germline	7	150951450	AGATCTTCTCCATCTGCGTCATGCTCATTGGCTGTGAGTGTGCCCAGGGGCGGGCGGCGGG
778653296	259654	NM_005529.6(HSPG2):c.7006+1G>A	HSPG2	Apr 28, 2017	MedGen:CN517202	not provided	germline	1	21851790	CTGGGACCCAGGGGGCCAACTTAGCCTACCGTGAGTGGGGCCACCAGGCTGGGCTGGGATG
756217590	264183	NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp)	COL7A1	Jun 06, 2016	MedGen:CN517202	not provided	germline	3	48583161	CTCTCACCCTCTCTCTTCAGGGTGACCGGGGCTTTCCAGGGCCCCTGGGTGAGGCTGGAGA
886037776	223668	NM_024757.4(EHMT1):c.3413G>A (p.Trp1138Ter)	EHMT1	Jan 20, 2016	MedGen:C1510586,Orphanet:ORPHA106;MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494	Autism spectrum disorders;Chromosome 9q deletion syndrome	de novo	9	137817477	TGCAGCTCTACCGGACGCGGGACATGGGCTGGGGCGTGCGGTCCCTGCAGGACATCCCACC
765411990	419517	NM_000179.2(MSH6):c.2910G>A (p.Trp970Ter)	MSH6	Mar 28, 2016	MedGen:C0027672,SNOMED CT:699346009;MedGen:C1333990,Orphanet:ORPHA144,SNOMED CT:315058005	Hereditary cancer-predisposing syndrome;Lynch syndrome	germline	2	47800893	CAGAATTGGCTGTAGGACCATAGTCTATTGGGGGATTGGTAGGAACCGTTACCAGCTGGAA
1135401732	263010	NM_031844.2(HNRNPU):c.1089G>A (p.Trp363Ter)	HNRNPU	Oct 26, 2016	Human Phenotype Ontology:HP:0200134,MedGen:C0543888	Epileptic encephalopathy	de novo	1	244859303	TATTGACATACATGAAGTTCGTATTGGCTGGTCACTAACTACAAGTGGAATGTTACTTGGT
111033791	36626	NM_000155.3(GALT):c.948G>A (p.Trp316Ter)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34649453	ATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTC
28939709	21330	NM_002335.3(LRP5):c.4099G>A (p.Glu1367Lys)	LRP5	Nov 01, 2004	MedGen:C4016839	Exudative vitreoretinopathy 4, autosomal recessive	germline	11	68436987	TCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGAGCCAGCTTCTGGCA
121908615	21100	NM_001136472.1(LITAF):c.430G>A (p.Val144Met)	LITAF	Oct 01, 2009	MedGen:C0270913,OMIM:601098,Orphanet:ORPHA101083,SNOMED CT:4183003	Charcot-Marie-Tooth disease, type 1C	germline	16	11549693	ATCCCCTTCTGCGTGGATGCCCTGCAGGACGTGGACCATTACTGTCCCAACTGCAGAGCTC
745688122	214308	NM_015631.5(TCTN3):c.3G>A (p.Met1Ile)	TCTN3	Feb 23, 2015	MedGen:C3553758,OMIM:614815	Joubert syndrome 18	unknown	10	95693897	CGTCGGACCCGGAGGCCCTGAATGCCCCATGCGCACCCCACAGCTCGCGCTCCTGCAAGTG
886041117	263880	NM_030813.5(CLPB):c.805G>A (p.Ala269Thr)	CLPB	Sep 14, 2016	MedGen:C4225393,OMIM:616271,Orphanet:ORPHA445038	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	germline	11	72358940	AACAACCGCGCCAGTTTCAAGGGCTGCACGGCCTTGCACTATGCTGTTCTTGCTGATGACT
864621973	204429	NM_001844.4(COL2A1):c.3301G>A (p.Gly1101Arg)	COL2A1	Apr 01, 2015	Human Phenotype Ontology:HP:0002655,MedGen:C0038015,OMIM:183900,Orphanet:ORPHA253	Spondyloepiphyseal dysplasia congenita	germline	12	47977128	CAGGGTGCACAAGGCCCCATGGGACCCTCAGGACCAGCTGGAGCCCGGGGAATCCAGGTGA
57802288	21876	NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)	KRT83	Mar 18, 2016	MedGen:C0546966,OMIM:158000,Orphanet:ORPHA573,SNOMED CT:69488000;MedGen:CN517202	Beaded hair;not provided	germline	12	52315936	GTGATGAACTCCAAGCTAGGCCTGGATATCGAGATCGCCACCTACAGGCGCCTGCTGGAGG
797045707	207647	NM_003829.4(MPDZ):c.755G>A (p.Trp252Ter)	MPDZ	Aug 22, 2014	MedGen:C3554691,OMIM:615219	Hydrocephalus, nonsyndromic, autosomal recessive 2	germline	9	13221493	TCATATATGAGCTTTGTTTGTAGGTTCACTGGCAACACATGGAAACGATTGAATTGGTGAA
183894680	15551	NM_020475.2(ANK1):c.-153G>A	ANK1	Dec 01, 2000	MedGen:CN068423	Spherocytosis, type 1, autosomal recessive	germline	8	41797691	CCCTCCGCCCGCCCGTGCCGGGAGCGCCCGGCCCGACAGCAAGCGCCTCTGGGGCCGATAA
80338827	29120	NM_002473.5(MYH9):c.2105G>A (p.Arg702His)	MYH9	Apr 05, 2011	MedGen:C0398641,OMIM:153650,SNOMED CT:234485006;MedGen:C0403445,OMIM:153640,SNOMED CT:236422008;MedGen:CN073381,Orphanet:ORPHA182050	Epstein syndrome;Fechtner syndrome;MYH9 related disorders	germline	22	36305984	TGCGCTGCAACGGTGTTCTCGAGGGCATCCGTATCTGCCGCCAGGGCTTCCCCAACAGGGT
28935494	245170	NM_000169.2(GLA):c.1081G>A (p.Gly361Arg)	GLA	Apr 23, 2015	MedGen:CN517202	not provided	germline	X	101398018	GTAGCTATGATAAACCGGCAGGAGATTGGTGGACCTCGCTCTTATACCATCGCAGTTGCTT
104886264	36023	NM_000495.4(COL4A5):c.3782G>A (p.Gly1261Glu)	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108668496	AAGGCAACCCTGGGCCCCAAGGTCCTCCTGGGAGACCAGGTATGTCCGTGAGTGGTAGGAG
200598755	226425	NM_033419.4(PGAP3):c.558-10G>A	PGAP3	May 17, 2017	MedGen:C3810354,OMIM:615716;MedGen:CN517202	Hyperphosphatasia with mental retardation syndrome 4;not provided	germline	17	39673660	GGGCCACCTGCCCTCTGAGCAACCCTGGACGGTGGGGCAGGACCGTGGGGCTGCAGCACCC
121909768	21834	NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln)	DHCR7	Sep 19, 2016	MedGen:C0175694,OMIM:270400,Orphanet:ORPHA818,SNOMED CT:43929004;MedGen:CN517202	Smith-Lemli-Opitz syndrome;not provided	germline;unknown	11	71435748	TGCTGGGCCTGGTGGGCTACTACATCTTCCGGGTGGCCAACCACCAGAAGGACCTGTTCCG
758069019	271601	NM_003742.2(ABCB11):c.3692G>A (p.Arg1231Gln)	ABCB11	May 02, 2016	MedGen:C2608083,OMIM:605479,Orphanet:ORPHA99961;MedGen:C1866138,OMIM:601847	Benign recurrent intrahepatic cholestasis 2;Progressive familial intrahepatic cholestasis 2	germline	2	168924730	GAGGGGAGAAACAACGCATTGCTATTGCTCGGGCCATTGTACGAGATCCTAAAATCTTGCT
1131692300	424530	NM_000280.4(PAX6):c.300G>A (p.Trp100Ter)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	de novo	11	31801618	TAAGCGGGAGTGCCCGTCCATCTTTGCTTGGGAAATCCGAGACAGATTACTGTCCGAGGGG
374299350	39136	NR_023343.1(RNU4ATAC):r.30G>A	RNU4ATAC	Apr 08, 2011	MedGen:C1859452,OMIM:210710,SNOMED CT:254102008	Osteodysplastic primordial dwarfism, type 1	germline	2	121530909	TAACCATCCTTTTCTTGGGGTTGCGCTACTGTCCAATGAGCGCATAGTGAGGGCAGTACTG
191312027	167786	NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg)	ATP7B	Jun 13, 2017	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009;MedGen:CN517202	Wilson disease;not provided	germline;unknown	13	51950132	GGAGAAGCCATGCCAGTCACTAAGAAACCCGGAAGCACTGTAATTGCGGGGTCTATAAATG
104893899	21929	NM_002495.3(NDUFS4):c.44G>A (p.Trp15Ter)	NDUFS4	Mar 01, 2001	MedGen:C1838979,OMIM:252010	Mitochondrial complex I deficiency	germline	5	53560706	CAATGTCAGTGGTACTGAGGCAGACGTTGTGGCGGAGAAGGGCAGTGGCTGTAGCTGCCCT
886042009	264621	NM_001844.4(COL2A1):c.2618G>A (p.Gly873Glu)	COL2A1	Sep 19, 2016	MedGen:CN517202	not provided	germline	12	47980561	CTGGTCCTCAGGGCCCCTCTGGAGCACCTGGGCCTCAGGTGGGTAACGCTGCACTCCAAGA
752626288	442602	NM_005518.3(HMGCS2):c.1162G>A (p.Gly388Arg)	HMGCS2	Oct 02, 2017	MedGen:CN517202	not provided	germline	1	119755452	AATGGGAACATGTACACCTCATCCCTGTACGGGTGCCTGGCCTCGCTTCTGTCCCAGTGAG
863224130	210991	NM_015560.2(OPA1):c.871-1G>A	OPA1	May 18, 2012	MedGen:CN517202	not provided	germline	3	193637951	TATGAATAAGTGTTCTTTGTTTTGTGGGAAGGTTGTTGTGGTTGGAGATCAGAGTGCTGGA
67077695	103205	NM_000531.5(OTC):c.77+1G>A	OTC	-	MedGen:CN517202	not provided	unknown	X	38352774	TGGTCACAACTTCATGGTTCGAAATTTTCGGTAAGTGATGGTCAGAGACTTGGGTTTGATT
886042036	264021	NM_006015.4(ARID1A):c.2988+1G>A	ARID1A	Oct 11, 2016	MedGen:CN517202	not provided	germline	1	26766567	GGGACACCCAAGACAGAATCCAAATCCAAGGTAGTGATTTTTGTCTTGACTCCTTTCAACT
128621202	26417	NM_000061.2(BTK):c.1559G>A (p.Arg520Gln)	BTK	Oct 01, 1994	MedGen:C0221026,OMIM:300755,Orphanet:ORPHA47,SNOMED CT:65880007	X-linked agammaglobulinemia	germline	X	101356059	AATACCTGGAGTCAAAGCAGTTCCTTCACCGAGACCTGGTGGGACCTTAGAAGGATTGGCC
368497893	264928	NM_003560.3(PLA2G6):c.1077G>A (p.Ser359=)	PLA2G6	Oct 13, 2016	MedGen:CN517202	not provided	germline	22	38132831	CGGCAACACCCCGCTGCACCTGGCCATGTCGGTGAGCCCAGGACCGCGTGTCCTGCCCTGT
137853078	22487	NM_000455.4(STK11):c.488G>A (p.Gly163Asp)	STK11	Apr 12, 2013	MedGen:C0027672,SNOMED CT:699346009;Gene:8093,MedGen:C0153594,OMIM:273300,SNOMED CT:363449006	Hereditary cancer-predisposing syndrome;Malignant tumor of testis	germline;somatic	19	1220396	CCCGCAGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTGCATAGCCAGGGCATTGT
111033829	36458	NM_000155.3(GALT):c.98G>A (p.Arg33His)	GALT	Dec 04, 2012	MedGen:C0268151,OMIM:230400,Orphanet:ORPHA79239,SNOMED CT:124354006	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	not provided	9	34647104	ACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCT
111033305	52666	NM_000441.1(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4	Jul 01, 2017	Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;Human Phenotype Ontology:HP:0011387,MedGen:C1863752,OMIM:600791;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED CT:70348004;MedGen:CN517202;MedGen:CN169374	Enlarged vestibular aqueduct;Enlarged vestibular aqueduct;Pendred's syndrome;Pendred's syndrome;not provided;not specified	germline;unknown	7	107690200	CTTGTTTTGTGGCCACCACTGCTCTTTCCCGCACGGCCGTCCAGGAGAGCACTGGAGGAAA
1064793480	411442	NM_000044.4(AR):c.2420G>A (p.Cys807Tyr)	AR	May 07, 2015	MedGen:CN517202	not provided	germline	X	67721934	GGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAG
180177122	132185	NM_024675.3(PALB2):c.2718G>A (p.Trp906Ter)	PALB2	Oct 18, 2017	MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:254843006;MedGen:C0027672,SNOMED CT:699346009;MedGen:CN517202	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	germline	16	23626266	TCTTTGGAAAGCTCTGGATGCTTGGCAGTGGGAAAAACTTTATACCTGGCACTTCGCAGAG
74315283	33109	NM_000029.3(AGT):c.1124G>A (p.Arg375Gln)	AGT	Sep 01, 2005	Human Phenotype Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED CT:204949001	Renal dysplasia	germline	1	230705933	CCCTCAACTGGATGAAGAAACTATCTCCCCGGTAGGAGCCTCCCGGTCTCCCCTGGAATGT
-1	426895	NM_001171.5(ABCC6):c.3124G>A (p.Gly1042Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16165805	CCCATCAGCTTCTTTGAGCGGACACCCATTGGTCACCTGCTAAACCGCTTCTCCAAGGAGA
137853119	16442	NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg)	TMPRSS6	May 28, 2009	Human Phenotype Ontology:HP:0001935,MedGen:C0085576,OMIM:206200,Orphanet:ORPHA209981,SNOMED CT:234349007	Microcytic anemia	germline	22	37075180	ATCAACTTCACCTCCCAGATCTCCCTCACCGGGCCCGGTGTGCGGGTGCACTATGGCTTGT
116840818	33933	NM_000166.5(GJB1):c.187G>A (p.Val63Ile)	GJB1	Mar 30, 2016	MedGen:C0393808,OMIM:302800,Orphanet:ORPHA101075,SNOMED CT:230552007;MedGen:CN517202	X-linked hereditary motor and sensory neuropathy;not provided	germline	X	71223894	TGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCC
28933093	29543	NM_170707.3(LMNA):c.481G>A (p.Glu161Lys)	LMNA	Sep 01, 2017	MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751;EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004;MedGen:CN517202	Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;not provided	germline	1	156130741	GCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCA
201637900	246481	NM_000527.4(LDLR):c.2042G>A (p.Cys681Tyr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11120424	CCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTC
1131691795	422402	NM_033380.2(COL4A5):c.3410G>A (p.Gly1137Asp)	COL4A5	May 18, 2017	MedGen:CN517202	not provided	germline	X	108665543	CAGGCCCTCCTGGACCAAAAGGTATTAGTGGCCCTCCTGGGAACCCCGGCCTTCCAGGAGA
786204004	185756	NM_014362.3(HIBCH):c.950G>A (p.Gly317Glu)	HIBCH	Dec 04, 2013	MedGen:C0342738,OMIM:250620,Orphanet:ORPHA88639,SNOMED CT:237958002	Beta-hydroxyisobutyryl-CoA deacylase deficiency	germline	2	190213017	TAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAAC
137853061	22069	NM_002454.2(MTRR):c.1459G>A (p.Gly487Arg)	MTRR	Nov 11, 2013	MedGen:C1856057,OMIM:236270,Orphanet:ORPHA2169;MeSH:D030342,MedGen:C0950123	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type;Inborn genetic diseases	germline	5	7892815	TCTACTGCCACAACAGAGGTTCTGCGGAAGGGAGTATGTACAGGCTGGCTGGCCTTGTTGG
112202622	51488	NM_000138.4(FBN1):c.2855-1G>A	FBN1	May 02, 2012	MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED CT:19346006	Marfan syndrome	germline	15	48490079	CTATTTAACCTCCCTTGATTCCCTCTGACAGATATCCGCCTGGAAACCTGCTTCCTGAGGT
886039917	260981	NM_001273.3(CHD4):c.3380G>A (p.Arg1127Gln)	CHD4	Jan 24, 2017	MedGen:C4310688,OMIM:617159	Sifrim-Hitz-Weiss syndrome	germline	12	6588383	CTCAGCAGTTCTGCTTCTTGCTTTCCACTCGAGCTGGGGGCCTTGGAATCAATCTGGCCAC
-1	426953	NM_001171.5(ABCC6):c.2248G>A (p.Gly750Ser)	ABCC6	-	MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,SNOMED CT:252246005	Pseudoxanthoma elasticum	germline	16	16178965	CTCAGGCCACTGTTCCTTTTGTGGCCACAGGGCATGAATCTCTCCGGAGGCCAGAAGCAGC
121913041	224758	NM_001257989.1(TYMP):c.605G>A (p.Arg202Lys)	TYMP	Jan 14, 2016	MedGen:C0872218,OMIM:603041,Orphanet:ORPHA298	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	germline	22	50527629	TTCCTGCGGACGGAATCCTATATGCAGCCAGAGATGTGACAGCCACCGTGGACAGCCTGCC
1131691117	420812	NM_000267.3(NF1):c.5546+1G>A	NF1	May 27, 2016	MedGen:C0027672,SNOMED CT:699346009	Hereditary cancer-predisposing syndrome	germline	17	31327840	TAATTTAGGCAGTTCTGACCCGAGTTTACGGTAGGTTTTTTAAAATTCTCTTCAGTTTGAT
113871730	107110	NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu)	COL3A1	-	MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED CT:17025000	Ehlers-Danlos syndrome, type 4	germline	2	188991697	AGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAG
199473623	78829	NM_198056.2(SCN5A):c.4886G>A (p.Arg1629Gln)	SCN5A	Apr 07, 2017	MedGen:C1142166,Orphanet:ORPHA130,SNOMED CT:418818005;MedGen:CN517202	Brugada syndrome;not provided	germline	3	38551486	CGACGCTCTTCCGAGTCATCCGCCTGGCCCGAATAGGCCGCATCCTCAGACTGATCCGAGG
121918487	28302	NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr)	FGFR2	Jul 25, 2017	Human Phenotype Ontology:HP:0004439,MeSH:D003394,MedGen:C0010273,OMIM:123500,SNOMED CT:28861008;MedGen:CN231480;MedGen:C1863356,OMIM:101600	Crouzon syndrome;FGFR2 related craniosynostosis;Pfeiffer syndrome	germline;somatic	10	121517378	TAACTTTTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTGGGATATCCTT
398122812	38883	NM_001110556.1(FLNA):c.7896G>A (p.Trp2632Ter)	FLNA	Jan 01, 2010	MedGen:C1848213,OMIM:300049,OMIM:300537,SNOMED CT:448227009	Periventricular nodular heterotopia 1	germline	X	154348897	CAAGGGGGAGTACACACTGGTGGTCAAATGGGGGGACGAGCACATCCCAGGCAGCCCCTAC
137852744	23839	NM_001204.6(BMPR2):c.1040G>A (p.Cys347Tyr)	BMPR2	Sep 01, 2000	MedGen:C0152171,OMIM:178600,SNOMED CT:26174007	Primary pulmonary hypertension	germline	2	202530866	GAAATGTCCTAGTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAG
1114167371	417659	NM_000091.4(COL4A3):c.1175G>A (p.Gly392Glu)	COL4A3	-	MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919	Alport syndrome, autosomal recessive	unknown	2	227263804	TCCAAGGATCATCAAGGCCTGGCCTCAGAGGAGCCCCTGGATGGCCAGGCCTGAAAGGAAG
-1	260331	NM_007075.3(WDR45):c.830+1G>A	WDR45	Oct 13, 2017	MedGen:C3550973,OMIM:300894,Orphanet:ORPHA329284;MedGen:CN517202	Neurodegeneration with brain iron accumulation 5;not provided	de novo;germline	X	49075363	CAAGGATACCCGCCTCAACCGCCGCTCCGCGTGAGTACCCCCTCCCCACCCTACCGTGTCC
797045035	205798	NM_000495.4(COL4A5):c.3998-1G>A	COL4A5	Nov 30, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	germline	X	108680884	TGCCATAAAACTGTATGTACCTTCTGTGCAGGCATGAAAGGACCCAGTGGAGTACCTGGAT
1131692306	424523	NM_000280.4(PAX6):c.467G>A (p.Trp156Ter)	PAX6	-	MedGen:C0344542,OMIM:106210	Aniridia 1	maternal	11	31800747	TAAGGATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCGGGGAC
-1	450839	NM_004369.3(COL6A3):c.6230G>A (p.Gly2077Asp)	COL6A3	May 16, 2017	MedGen:CN029274,OMIM:158810	Bethlem myopathy 1	germline	2	237360140	TCTCACAACAGGGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTG
587776404	36116	NM_000495.4(COL4A5):c.4803+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108694922	TCTCTGTGGATTGGTTATTCCTTCATGATGGTATTTTACACTCTTCCTTGCATTTGTCATC
587783527	169924	NM_178151.2(DCX):c.182G>A (p.Gly61Glu)	DCX	Feb 08, 2013	Human Phenotype Ontology:HP:0002282,MedGen:C0008519	Heterotopia	germline	X	111410217	AAGCCAAGAAGGTACGTTTCTACCGCAATGGGGACCGCTACTTCAAGGGGATTGTGTACGC
116840793	23329	NM_033337.2(CAV3):c.139G>A (p.Glu47Lys)	CAV3	Apr 15, 2012	MedGen:C1832560;MedGen:CN517202	Rippling muscle disease 2;not provided	germline	3	8745550	CTGCAGGTGGATTTTGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTGACGGCG
886041513	442143	NM_000435.2(NOTCH3):c.1364G>A (p.Cys455Tyr)	NOTCH3	Nov 12, 2014	MedGen:CN517202	not provided	germline	19	15189003	CGTGCCTCGACCGCATAGGCCAGTTCACCTGTATCTGTATGGCAGGTGGGTGGTGGGCGTG
515726164	132001	NM_021625.4(TRPV4):c.1875G>A (p.Met625Ile)	TRPV4	Apr 02, 2014	Human Phenotype Ontology:HP:0002652,MedGen:C0410528,SNOMED CT:105986008	Skeletal dysplasia	germline	12	109792379	CCGATTCCTGCTCGTCTACTTGCTCTTCATGATCGGCTACGCTTCAGGTGAGCTCTGGGTG
398122843	28783	NM_000316.2(PTH1R):c.1148G>A (p.Arg383Gln)	PTH1R	Jul 01, 1998	MedGen:C1859148,OMIM:215045,Orphanet:ORPHA50945	Chondrodysplasia Blomstrand type	germline	3	46901797	TCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAA
398122954	94559	NM_024582.4(FAT4):c.13193G>A (p.Cys4398Tyr)	FAT4	Dec 03, 2013	MedGen:C3809875,OMIM:615546	Van Maldergem syndrome 2	germline	4	125490015	CAAAAACAGATCCCTCAGTGAAGATTGGCTGCCGTGGCCCGAACATTTGTGCCAGCAACCC
879254506	362675	NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr)	LDLR	Mar 30, 2017	MedGen:C0020445,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000	Familial hypercholesterolemia	germline	19	11105289	ATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTC
145639028	359629	NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)	WFS1	Mar 06, 2015	MedGen:CN517202	not provided	germline	4	6289047	GACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGC
121918013	28716	NM_000478.5(ALPL):c.346G>A (p.Ala116Thr)	ALPL	Sep 26, 2016	MedGen:C0268413,OMIM:146300,Orphanet:ORPHA247676,SNOMED CT:20756002;MedGen:C0220743,OMIM:241510,SNOMED CT:30174008;MedGen:C0020630,Orphanet:ORPHA436;Human Phenotype Ontology:HP:0003239,MedGen:C0268412,OMIM:241500,Orphanet:ORPHA247651,SNOMED CT:55236002;MedGen:C1840322,Orphanet:ORPHA247685;MedGen:CN517202	Adult hypophosphatasia;Childhood hypophosphatasia;Hypophosphatasia;Infantile hypophosphatasia;Odontohypophosphatasia;not provided	germline;unknown	1	21563158	CAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGGGTGAAGGCCAATGAGG
-1	417089	NM_019098.4(CNGB3):c.1781+1G>A	CNGB3	Mar 27, 2017	MedGen:C1849792,OMIM:262300	Achromatopsia 3	germline	8	86604092	GAAAGCTGGGTCGGTGTTTGGAGAAATCAGGTATCTGAAAGATACTTCATAAATATTGAAG
794727337	192737	NM_006920.4(SCN1A):c.4191G>A (p.Trp1397Ter)	SCN1A	Mar 09, 2015	MedGen:C1858673,OMIM:604403;MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED CT:230437002	Generalized epilepsy with febrile seizures plus, type 2;Severe myoclonic epilepsy in infancy	germline	2	166002532	ACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGTA
267607023	21163	NM_001029.4(RPS26):c.97G>A (p.Asp33Asn)	RPS26	Feb 12, 2010	MedGen:C2750080,OMIM:613309	Diamond-Blackfan anemia 10	germline	12	56042518	TGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAA
28928905	29469	NM_000238.3(KCNH2):c.1468G>A (p.Ala490Thr)	KCNH2	Jan 23, 2012	MedGen:C1141890,Orphanet:ORPHA768,SNOMED CT:442917000;MedGen:CN070019;MedGen:CN517202	Congenital long QT syndrome;Long QT syndrome, bradycardia-induced;not provided	germline	7	150952514	GAGGAGGTGGTCAGCCACCCCGGCCGCATCGCCGTCCACTACTTCAAGGGCTGGTTCCTCA
886041035	106833	NM_006612.5(KIF1C):c.183G>A (p.Ser61=)	KIF1C	Jan 31, 2014	MedGen:C1969796,OMIM:611302,Orphanet:ORPHA397946	Ataxia, spastic, 2, autosomal recessive	germline	17	5000848	CTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGG
387906407	24125	NM_001287174.1(ABCC8):c.4310G>A (p.Arg1437Gln)	ABCC8	Sep 12, 2016	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline	11	17395610	AGGACCCCGTCCTCTTCAGCGGCACCATCCGGTGAGCCCCACCACCCCTCAGGCCCACCCA
863224195	211876	NM_017827.3(SARS2):c.589+1G>A	SARS2	Jan 31, 2014	MedGen:CN517202	not provided	germline	19	38921391	GAGTGCTCCACATGGTCGGAGACAAGCCAGGTGGGCCACACCCCAGGCCTGGGAGCTGACA
1057518207	360687	NM_004006.2(DMD):c.2168+1G>A	DMD	Jul 17, 2017	MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED CT:76670001;MedGen:CN517202	Duchenne muscular dystrophy;not provided	germline	X	32545158	GATTACTGTGGATTCTGAAATTAGGAAAAGGTGAGAGCATCTTAAGCTTTTATCTGCAAAT
398123422	99040	NM_000489.4(ATRX):c.189+1G>A	ATRX	Nov 01, 2012	MedGen:CN517202	not provided	germline	X	77698573	TCTGATATGATGGAAAACAGCAAGGAAGAGGTAAGGATAATTATTTAGAGATATTTGTTAG
587776934	48407	NM_005027.3(PIK3R2):c.1117G>A (p.Gly373Arg)	PIK3R2	May 12, 2017	MeSH:D030342,MedGen:C0950123;MedGen:C1865285,OMIM:602501;MedGen:C1863924,OMIM:603387,Orphanet:ORPHA83473;MedGen:CN517202	Inborn genetic diseases;Megalencephaly cutis marmorata telangiectatica congenita;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1;not provided	de novo;germline	19	18162974	CCGACACCCCTCTCCTCCCCCAGGAAAGGCGGGAACAATAAGCTGATCAAGGTCTTCCACC
112811136	49861	NM_006744.3(RBP4):c.111+1G>A	RBP4	Jan 01, 2012	MedGen:C3554593,OMIM:615147,Orphanet:ORPHA352718	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	germline	10	93600917	CGAGTCAAGGAGAACTTCGACAAGGCTCGCGTAGGTATCGGCCCAGGGGGCCCAGGCGGCC
121908474	20847	NM_139025.4(ADAMTS13):c.3638G>A (p.Cys1213Tyr)	ADAMTS13	Oct 04, 2001	MedGen:C1268935,OMIM:274150,Orphanet:ORPHA93583,SNOMED CT:373420004	Upshaw-Schulman syndrome	germline	9	133456138	TTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGA
28942076	18895	NM_000053.3(ATP7B):c.2827G>A (p.Gly943Ser)	ATP7B	Feb 16, 2016	MedGen:C0019202,OMIM:277900,Orphanet:ORPHA905,SNOMED CT:88518009	Wilson disease	germline	13	51949700	ACTTTGACGTTGGTGGTATGGATTGTAATCGGTTTTATCGATTTTGGTGTTGTTCAGAGAT
199422275	47889	NR_001566.1(TERC):n.178G>A	TERC	May 10, 2012	Human Phenotype Ontology:HP:0001915,MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	Aplastic anemia	not provided	3	169764883	CCACCGTTCATTCTAGAGCAAACAAAAAATGTCAGCTGCTGGCCCGTTCGCCCCTCCCGGG
121913495	30973	NM_000516.5(GNAS):c.602G>A (p.Arg201His)	GNAS	Sep 26, 2017	Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013;MedGen:C0278701;Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501;MeSH:D015179,MedGen:CN236642;MedGen:C1857451,OMIM:219080;MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001;MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004;MedGen:C0242292,OMIM:174800,Orphanet:ORPHA562;MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006;Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005;MedGen:CN495005,OMIM:617686;Human Phenotype Ontology:HP:0006725,MedGen:C0281361;MedGen:C0206724;MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037;MeSH:D002583,MedGen:CN236667	Adenocarcinoma of lung;Adenocarcinoma of stomach;Adrenocortical carcinoma;Colorectal Neoplasms;Cushing's syndrome;Hepatocellular carcinoma;Malignant melanoma of skin;McCune-Albright syndrome;Neoplasm;Neoplasm of the breast;PITUITARY ADENOMA 3, MULTIPLE TYPES;Pancreatic adenocarcinoma;Sex cord-stromal tumor;Squamous cell carcinoma of the head and neck;Uterine cervical neoplasms	germline;somatic	20	58909366	CAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAA
121965009	15276	NM_000398.6(CYB5R3):c.316G>A (p.Val106Met)	CYB5R3	May 01, 2008	MedGen:C2749559	Methemoglobinemia, type I	germline	22	42630899	CCCATCTCCAGCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTGAAGCCTCTGG
267606891	24754	m.10197G>A	MT-ND3	Feb 24, 2017	MedGen:C1839040,OMIM:500001;MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED CT:29570005;MedGen:C1838951;MedGen:CN169374	Leber hereditary optic neuropathy with dystonia;Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency;not specified	germline	MT	10197	TACGAGTGCGGCTTCGACCCTATATCCCCCGCCCGCGTCCCTTTCTCCATAAAATTCTTCT
1057516080	354028	NM_172107.3(KCNQ2):c.475G>A (p.Gly159Arg)	KCNQ2	Mar 31, 2016	MedGen:C1852587,OMIM:121200	Benign familial neonatal seizures 1	germline	20	63445277	GGCTGCTGCTGCCGGTACCGTGGCTGGAGGGGGCGGCTCAAGTTTGCCCGGAAACCGTTCT
786205007	187409	NM_005249.4(FOXG1):c.689G>A (p.Arg230His)	FOXG1	Feb 15, 2013	MedGen:C3150705,OMIM:613454	Rett syndrome, congenital variant	de novo	14	28767968	AGAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGTCCCTCAACAAGTGCTTCGT
121909062	22060	NM_005422.2(TECTA):c.6062G>A (p.Arg2021His)	TECTA	Aug 01, 2002	MedGen:C1832187,OMIM:601543	Deafness, autosomal dominant 12	germline	11	121187894	TCGAGGAGAATGCAGTCTCCCTGACCTGTCGCTTTCACGTCACCGTCTTTAAATTCATAGG
794727999	196426	NM_005045.3(RELN):c.9526G>A (p.Glu3176Lys)	RELN	Aug 27, 2015	MedGen:C4225327,OMIM:616436	Epilepsy, familial temporal lobe, 7	germline	7	103490747	AGCATTGGCTGCTCCCCTTTCCAGTTCCATGAAGCCACCATCTACAACTCTGTCAACAGCT
61749403	15330	NM_000552.4(VWF):c.4022G>A (p.Arg1341Gln)	VWF	May 01, 2010	MedGen:CN517202;MedGen:C1282971,Orphanet:ORPHA166087	not provided;von Willebrand disease, type 2b	germline	12	6019396	TCAAGGACCGGAAGCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGG
121918171	16004	NM_000275.2(OCA2):c.1182G>A (p.Met394Ile)	OCA2	Jan 01, 2005	MedGen:C0268495,OMIM:203200,Orphanet:ORPHA79432,SNOMED CT:26336006	Tyrosinase-positive oculocutaneous albinism	germline	15	27989601	TTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGC
184841813	187087	NM_000718.3(CACNA1B):c.4166G>A (p.Arg1389His)	CACNA1B	Mar 27, 2015	MedGen:C3538999,OMIM:614860,Orphanet:ORPHA420492	Dystonia 23	germline	9	138058108	ATGAGGAGCAGGGTCCAAGCCCTGGGTACCGCATGGAGCTGTCCATCTTCTACGTGGTCTA
397514352	36336	NM_000060.4(BTD):c.334G>A (p.Glu112Lys)	BTD	Dec 04, 2012	MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED CT:8808004	Biotinidase deficiency	not provided	3	15641932	TTTCAGGATGTACAGATTATAGTGTTTCCAGAAGATGGCATTCATGGATTCAACTTTACAA
104886446	35668	NM_000495.4(COL4A5):c.834+1G>A	COL4A5	Dec 04, 2012	MedGen:C1567742,OMIM:301050,Orphanet:ORPHA88917	Alport syndrome, X-linked recessive	not provided	X	108580587	CCTGGACCTCCAGGGATACGTGGTCCTCCAGTAAGTACCTAAAGTGCTTTAGCATCATTTA
80338707	22758	NM_000303.2(PMM2):c.691G>A (p.Val231Met)	PMM2	Aug 21, 2017	MedGen:C0349653,OMIM:212065,Orphanet:ORPHA79318,SNOMED CT:277893002	Carbohydrate-deficient glycoprotein syndrome type I	germline;unknown	16	8847775	TTCACAGACCCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCT
-1	456876	NM_000238.3(KCNH2):c.461G>A (p.Trp154Ter)	KCNH2	Feb 03, 2017	MeSH:D008133,MedGen:C0023976,SNOMED CT:9651007	Long QT syndrome	germline	7	150959583	ACACCAACCACCGGGGCCCCCCCACCAGCTGGCTGGCCCCAGGTAAGTGTACTTGCTTTAG
761749884	207858	NM_000352.4(ABCC8):c.331G>A (p.Gly111Arg)	ABCC8	Jun 07, 2016	MedGen:C1257959,OMIM:256450,SNOMED CT:360339005	Persistent hyperinsulinemic hypoglycemia of infancy	germline;unknown	11	17470182	TCCCACCATCTGCACCTGTACATGCCAGCCGGGATGGCGTTCATGGCTGCTGTCACCTCCG
104893816	27554	NM_003242.5(TGFBR2):c.1379G>A (p.Arg460His)	TGFBR2	Jan 09, 2017	MedGen:C2674876,OMIM:610168;MedGen:CN517202	Loeys-Dietz syndrome 2;not provided	germline	3	30674229	TGGCTCTGGTGCTCTGGGAAATGACATCTCGCTGTAATGCAGTGGGAGGTAGGTGTGGACC
569729547	437694	NM_001145112.1(PATL2):c.839G>A (p.Arg280Gln)	PATL2	Oct 24, 2017	MedGen:CN562785,OMIM:617743	OOCYTE MATURATION DEFECT 4	germline	15	44669814	TAGCTGTGTCGACATGCTTCAGCCCTCGCCGAGCTATTGATGCGGTACCCCATGGAACTCA
397517159	49176	NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys)	SOS1	Apr 03, 2017	MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN517202	Noonan syndrome;Rasopathy;not provided	de novo;germline	2	39007168	CCCAGATGTATTGTAGAAACTGAAAATTTAGAAGAAAGAGTAGCTGTGGTGAGTCGAATTA
864309698	214002	NM_000496.2(CRYBB2):c.355G>A (p.Gly119Arg)	CRYBB2	Jul 10, 2017	MedGen:C1832175,OMIM:601547;Human Phenotype Ontology:HP:0000519,MedGen:C1842324	Cataract 3, multiple types;Congenital cataract	de novo;germline	22	25229484	ATCATCCTCTATGAAAACCCCAACTTCACCGGGAAGAAGATGGAAATCATAGATGACGATG
104894815	25462	NM_002049.3(GATA1):c.613G>A (p.Val205Met)	GATA1	Apr 17, 2014	MedGen:C4016507;MedGen:C1845837,OMIM:300367,Orphanet:ORPHA67044	Dyserythropoietic anemia with thrombocytopenia;GATA-1-related thrombocytopenia with dyserythropoiesis	germline	X	48792337	CTCTCCACCCCACCAGAGGCCAGGGAGTGTGTGAACTGCGGAGCAACAGCCACTCCACTGT
80358261	23522	NM_006432.3(NPC2):c.115G>A (p.Val39Met)	NPC2	Jul 22, 2008	MedGen:C1843366,OMIM:607625	Niemann-Pick disease type C2	germline	14	74486404	TCTGTGGATGGAGTTATAAAGGAAGTGAATGTGAGCCCATGCCCCACCCAACCCTGCCAGC
876660979	232109	NM_000214.2(JAG1):c.694+1G>A	JAG1	Oct 26, 2015	MedGen:CN517202	not provided	germline	20	10658467	AAGGCTGGATGGGCCCCGAATGTAACAGAGGTATGTGTGTGTGTGTGCATGTGCACGTGTG
779232987	413199	NM_139284.2(LGI4):c.793G>A (p.Ala265Thr)	LGI4	May 02, 2017	MedGen:CN243956,OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	germline	19	35126853	CAGCGCTTCCGGCCCGAGGAAGAGCTGCCCGGTGAGCCCCCTCCCCGTCCTTCTGCCTGTC